Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.94380906A>C	CA390848374	SERPINA1	c.882T>G (p.Asp294Glu)
14	g.94380906A>G	CA487840939	SERPINA1	c.882T>C (p.Asp294=)	gnomAD v4
14	g.94380906A>T	CA390848375	SERPINA1	c.882T>A (p.Asp294Glu)
14	g.94380907T>A	CA390848378	SERPINA1	c.881A>T (p.Asp294Val)
14	g.94380907T>C	CA390848377	SERPINA1	c.881A>G (p.Asp294Gly)	gnomAD v4
14	g.94380907T>G	CA390848376	SERPINA1	c.881A>C (p.Asp294Ala)
14	g.94380908C>A	CA390848379	SERPINA1	c.880G>T (p.Asp294Tyr)	gnomAD v4
14	g.94380908C=	CA2155953850	SERPINA1	c.880G= (p.Asp294=)
14	g.94380908C>G	CA390848380	SERPINA1	c.880G>C (p.Asp294His)
14	g.94380908C>T	CA7327385	SERPINA1	c.880G>A (p.Asp294Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380909G>A	CA265863749	SERPINA1	c.879C>T (p.His293=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
14	g.94380909G>C	CA349696	SERPINA1	c.879C>G (p.His293Gln)	ClinVar dbSNP
14	g.94380909G=	CA2155953851	SERPINA1	c.879C= (p.His293=)
14	g.94380909G>T	CA7327386	SERPINA1	c.879C>A (p.His293Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380910_94380912del	CA2550231306	SERPINA1	c.877_879del (p.His293del)
14	g.94380910T>A	CA390848381	SERPINA1	c.878A>T (p.His293Leu)
14	g.94380910T>C	CA390848383	SERPINA1	c.878A>G (p.His293Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380910T>G	CA390848382	SERPINA1	c.878A>C (p.His293Pro)
14	g.94380910T=	CA2155953852	SERPINA1	c.878A= (p.His293=)
14	g.94380911G>A	CA390848384	SERPINA1	c.877C>T (p.His293Tyr)
14	g.94380911G>C	CA390848385	SERPINA1	c.877C>G (p.His293Asp)	gnomAD v4
14	g.94380911G>T	CA390848386	SERPINA1	c.877C>A (p.His293Asn)
14	g.94380912G>A	CA487840943	SERPINA1	c.876C>T (p.Thr292=)	ClinVar gnomAD v4
14	g.94380912G>C	CA487840946	SERPINA1	c.876C>G (p.Thr292=)
14	g.94380912G>T	CA487840945	SERPINA1	c.876C>A (p.Thr292=)
14	g.94380913G>A	CA7327387	SERPINA1	c.875C>T (p.Thr292Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380913G>C	CA390848387	SERPINA1	c.875C>G (p.Thr292Ser)
14	g.94380913G=	CA2155953853	SERPINA1	c.875C= (p.Thr292=)
14	g.94380913G>T	CA390848388	SERPINA1	c.875C>A (p.Thr292Asn)
14	g.94380914T>A	CA390848389	SERPINA1	c.874A>T (p.Thr292Ser)
14	g.94380914T>C	CA7327388	SERPINA1	c.874A>G (p.Thr292Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380914T>G	CA390848390	SERPINA1	c.874A>C (p.Thr292Pro)
14	g.94380914T=	CA2155953854	SERPINA1	c.874A= (p.Thr292=)
14	g.94380915G>A	CA7327389	SERPINA1	c.873C>T (p.Leu291=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14	g.94380915G>C	CA487840949	SERPINA1	c.873C>G (p.Leu291=)	gnomAD v4
14	g.94380915G=	CA2155953855	SERPINA1	c.873C= (p.Leu291=)
14	g.94380915G>T	CA487840950	SERPINA1	c.873C>A (p.Leu291=)
14	g.94380916del	CA2513064073	SERPINA1	c.872del (p.Leu291ProfsTer?) c.872del (p.Leu291ProfsTer21)
14	g.94380916A>C	CA390848391	SERPINA1	c.872T>G (p.Leu291Arg)
14	g.94380916A>G	CA390848393	SERPINA1	c.872T>C (p.Leu291Pro)
14	g.94380916A>T	CA390848392	SERPINA1	c.872T>A (p.Leu291His)
14	g.94380917G>A	CA390848394	SERPINA1	c.871C>T (p.Leu291Phe)	dbSNP gnomAD v4
14	g.94380917G>C	CA390848396	SERPINA1	c.871C>G (p.Leu291Val)
14	g.94380917G=	CA2155953856	SERPINA1	c.871C= (p.Leu291=)
14	g.94380917G>T	CA390848395	SERPINA1	c.871C>A (p.Leu291Ile)
14	g.94380918T>A	CA390848397	SERPINA1	c.870A>T (p.Glu290Asp)
14	g.94380918T>C	CA487840952	SERPINA1	c.870A>G (p.Glu290=)
14	g.94380918T>G	CA390848398	SERPINA1	c.870A>C (p.Glu290Asp)
14	g.94380918_94380919insCGCCGTA	CA2567443188	SERPINA1	c.869_870insTACGGCG (p.Glu290AspfsTer16)
14	g.94380919T>A	CA390848399	SERPINA1	c.869A>T (p.Glu290Val)
14	g.94380919T>C	CA390848401	SERPINA1	c.869A>G (p.Glu290Gly)
14	g.94380919T>G	CA390848400	SERPINA1	c.869A>C (p.Glu290Ala)
14	g.94380920C>A	CA390848402	SERPINA1	c.868G>T (p.Glu290Ter)
14	g.94380920C=	CA2155953857	SERPINA1	c.868G= (p.Glu290=)
14	g.94380920C>G	CA390848403	SERPINA1	c.868G>C (p.Glu290Gln)
14	g.94380920C>T	CA390848404	SERPINA1	c.868G>A (p.Glu290Lys)
14	g.94380921A=	CA2155953858	SERPINA1	c.867T= (p.Asn289=)
14	g.94380921A>C	CA390848405	SERPINA1	c.867T>G (p.Asn289Lys)
14	g.94380921A>G	CA487840956	SERPINA1	c.867T>C (p.Asn289=)
14	g.94380921A>T	CA390848406	SERPINA1	c.867T>A (p.Asn289Lys)
14	g.94380922T>A	CA390848407	SERPINA1	c.866A>T (p.Asn289Ile)
14	g.94380922T>C	CA390848408	SERPINA1	c.866A>G (p.Asn289Ser)
14	g.94380922T>G	CA390848409	SERPINA1	c.866A>C (p.Asn289Thr)
14	g.94380925dup	CA645509532	SERPINA1	c.866dup (p.Asn289LysfsTer2)	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.94380925_94380941del	CA2695219657	SERPINA1	c.850_866del (p.Leu284Ter)
14	g.94380923T>A	CA390848410	SERPINA1	c.865A>T (p.Asn289Tyr)
14	g.94380923T>C	CA390848411	SERPINA1	c.865A>G (p.Asn289Asp)
14	g.94380923T>G	CA7327390	SERPINA1	c.865A>C (p.Asn289His)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.94380923T=	CA2155953859	SERPINA1	c.865A= (p.Asn289=)
14	g.94380924T>A	CA390848412	SERPINA1	c.864A>T (p.Glu288Asp)
14	g.94380924T>C	CA487840960	SERPINA1	c.864A>G (p.Glu288=)
14	g.94380924T>G	CA390848413	SERPINA1	c.864A>C (p.Glu288Asp)
14	g.94380924_94380932del	CA2515417830	SERPINA1	c.856_864del (p.His286_Glu288del)
14	g.94380925T>A	CA127679	SERPINA1	c.863A>T (p.Glu288Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.[94380925T>A;94382636T>C]	CA645511342	SERPINA1	c.[602A>G;863A>T] (p.[Asp201Gly;Glu288Val])
14	g.[94380925T>A;94383048G>T]	CA645511343	SERPINA1	c.[190C>A;863A>T] (p.[Gln64Lys;Glu288Val])
14	g.94380925T>C	CA390848415	SERPINA1	c.863A>G (p.Glu288Gly)
14	g.94380925T>G	CA390848414	SERPINA1	c.863A>C (p.Glu288Ala)
14	g.94380925T=	CA1630856180	SERPINA1	c.863A= (p.Glu288=)
14	g.94380926C>A	CA390848416	SERPINA1	c.862G>T (p.Glu288Ter)
14	g.94380926C>G	CA390848417	SERPINA1	c.862G>C (p.Glu288Gln)
14	g.94380926C>T	CA390848418	SERPINA1	c.862G>A (p.Glu288Lys)
14	g.94380927C>A	CA487840963	SERPINA1	c.861G>T (p.Leu287=)
14	g.94380927C=	CA2155953860	SERPINA1	c.861G= (p.Leu287=)
14	g.94380927C>G	CA487840961	SERPINA1	c.861G>C (p.Leu287=)
14	g.94380927C>T	CA487840962	SERPINA1	c.861G>A (p.Leu287=)	ClinVar dbSNP gnomAD v2 gnomAD v4
14	g.94380928A=	CA2155953861	SERPINA1	c.860T= (p.Leu287=)
14	g.94380928A>C	CA390848419	SERPINA1	c.860T>G (p.Leu287Arg)
14	g.94380928A>G	CA390848420	SERPINA1	c.860T>C (p.Leu287Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
14	g.94380928A>T	CA390848421	SERPINA1	c.860T>A (p.Leu287Gln)
14	g.94380929G>A	CA487840965	SERPINA1	c.859C>T (p.Leu287=)
14	g.94380929G>C	CA390848422	SERPINA1	c.859C>G (p.Leu287Val)
14	g.94380929G>T	CA390848423	SERPINA1	c.859C>A (p.Leu287Met)
14	g.94380930G>A	CA487840966	SERPINA1	c.858C>T (p.His286=)	dbSNP gnomAD v2 gnomAD v4
14	g.94380930G>C	CA390848424	SERPINA1	c.858C>G (p.His286Gln)
14	g.94380930G=	CA2155953862	SERPINA1	c.858C= (p.His286=)
14	g.94380930G>T	CA390848425	SERPINA1	c.858C>A (p.His286Gln)
14	g.94380931T>A	CA390848428	SERPINA1	c.857A>T (p.His286Leu)
14	g.94380931T>C	CA390848427	SERPINA1	c.857A>G (p.His286Arg)
14	g.94380931T>G	CA390848426	SERPINA1	c.857A>C (p.His286Pro)
14	g.94380932G>A	CA7327391	SERPINA1	c.856C>T (p.His286Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380932G>C	CA390848429	SERPINA1	c.856C>G (p.His286Asp)
14	g.94380932G=	CA2155953863	SERPINA1	c.856C= (p.His286=)
14	g.94380932G>T	CA390848430	SERPINA1	c.856C>A (p.His286Asn)
14	g.94380932_94380933insAAAAAA	CA2528267626	SERPINA1	c.855_856insTTTTTT (p.Gln285_His286insPhePhe)
14	g.94380933C>A	CA390848431	SERPINA1	c.855G>T (p.Gln285His)
14	g.94380933C=	CA2155953864	SERPINA1	c.855G= (p.Gln285=)
14	g.94380933C>G	CA390848432	SERPINA1	c.855G>C (p.Gln285His)
14	g.94380933C>T	CA487840970	SERPINA1	c.855G>A (p.Gln285=)	dbSNP COSMIC
14	g.94380934T>A	CA390848433	SERPINA1	c.854A>T (p.Gln285Leu)
14	g.94380934T>C	CA390848434	SERPINA1	c.854A>G (p.Gln285Arg)
14	g.94380934T>G	CA390848435	SERPINA1	c.854A>C (p.Gln285Pro)	COSMIC
14	g.94380935G>A	CA390848436	SERPINA1	c.853C>T (p.Gln285Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
14	g.94380935G>C	CA390848438	SERPINA1	c.853C>G (p.Gln285Glu)
14	g.94380935G=	CA2155953865	SERPINA1	c.853C= (p.Gln285=)
14	g.94380935G>T	CA390848437	SERPINA1	c.853C>A (p.Gln285Lys)
14	g.94380936T>A	CA487840975	SERPINA1	c.852A>T (p.Leu284=)
14	g.94380936T>C	CA265863754	SERPINA1	c.852A>G (p.Leu284=)	dbSNP gnomAD v4
14	g.94380936T>G	CA487840976	SERPINA1	c.852A>C (p.Leu284=)
14	g.94380936T=	CA2155953866	SERPINA1	c.852A= (p.Leu284=)
14	g.94380937A>C	CA390848439	SERPINA1	c.851T>G (p.Leu284Arg)
14	g.94380937A>G	CA390848440	SERPINA1	c.851T>C (p.Leu284Pro)	dbSNP
14	g.94380937A>T	CA390848441	SERPINA1	c.851T>A (p.Leu284Gln)
14	g.94380938G>A	CA7327392	SERPINA1	c.850C>T (p.Leu284=)	dbSNP ExAC
14	g.94380938G>C	CA390848443	SERPINA1	c.850C>G (p.Leu284Val)
14	g.94380938G=	CA2155953867	SERPINA1	c.850C= (p.Leu284=)
14	g.94380938G>T	CA390848442	SERPINA1	c.850C>A (p.Leu284Ile)
14	g.94380939T>A	CA390848444	SERPINA1	c.849A>T (p.Lys283Asn)
14	g.94380939T>C	CA487840977	SERPINA1	c.849A>G (p.Lys283=)
14	g.94380939T>G	CA390848445	SERPINA1	c.849A>C (p.Lys283Asn)
14	g.94380941del	CA487840978	SERPINA1	c.849del (p.Lys283AsnfsTer?) c.849del (p.Lys283AsnfsTer29)	COSMIC
14	g.94380940T>A	CA348043	SERPINA1	c.848A>T (p.Lys283Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
14	g.94380940T>C	CA390848446	SERPINA1	c.848A>G (p.Lys283Arg)
14	g.94380940T>G	CA390848447	SERPINA1	c.848A>C (p.Lys283Thr)
14	g.94380940T=	CA2155953868	SERPINA1	c.848A= (p.Lys283=)
14	g.94380941T>A	CA390848448	SERPINA1	c.847A>T (p.Lys283Ter)	ClinVar dbSNP gnomAD v4
14	g.94380941T>C	CA390848449	SERPINA1	c.847A>G (p.Lys283Glu)
14	g.94380941T>G	CA390848450	SERPINA1	c.847A>C (p.Lys283Gln)
14	g.94380941T=	CA2155953869	SERPINA1	c.847A= (p.Lys283=)
14	g.94380942C>A	CA7327393	SERPINA1	c.846G>T (p.Gly282=)	dbSNP ExAC gnomAD v2
14	g.94380942C=	CA2155953870	SERPINA1	c.846G= (p.Gly282=)
14	g.94380942C>G	CA487840980	SERPINA1	c.846G>C (p.Gly282=)
14	g.94380942C>T	CA487840979	SERPINA1	c.846G>A (p.Gly282=)	gnomAD v4
14	g.94380943C>A	CA390848451	SERPINA1	c.845G>T (p.Gly282Val)
14	g.94380943C>G	CA390848452	SERPINA1	c.845G>C (p.Gly282Ala)	gnomAD v4
14	g.94380943C>T	CA390848453	SERPINA1	c.845G>A (p.Gly282Glu)	gnomAD v4
14	g.94380944C>A	CA390848455	SERPINA1	c.844G>T (p.Gly282Trp)
14	g.94380944C=	CA2155953871	SERPINA1	c.844G= (p.Gly282=)
14	g.94380944C>G	CA390848454	SERPINA1	c.844G>C (p.Gly282Arg)
14	g.94380944C>T	CA7327394	SERPINA1	c.844G>A (p.Gly282Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380945C>A	CA390848456	SERPINA1	c.843G>T (p.Glu281Asp)
14	g.94380945C=	CA2155953872	SERPINA1	c.843G= (p.Glu281=)
14	g.94380945C>G	CA390848457	SERPINA1	c.843G>C (p.Glu281Asp)
14	g.94380945C>T	CA487840981	SERPINA1	c.843G>A (p.Glu281=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380946T>A	CA390848458	SERPINA1	c.842A>T (p.Glu281Val)
14	g.94380946T>C	CA390848459	SERPINA1	c.842A>G (p.Glu281Gly)
14	g.94380946T>G	CA390848460	SERPINA1	c.842A>C (p.Glu281Ala)
14	g.94380947C>A	CA390848462	SERPINA1	c.841G>T (p.Glu281Ter)	ClinVar dbSNP
14	g.94380947C=	CA2155953874	SERPINA1	c.841G= (p.Glu281=)
14	g.94380947C>G	CA390848461	SERPINA1	c.841G>C (p.Glu281Gln)
14	g.94380947C>T	CA7327395	SERPINA1	c.841G>A (p.Glu281Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.94380947_94380949delinsCAT	CA2155953873	SERPINA1	c.839_841delinsATG (p.Asp280=)
14	g.94380948A=	CA2155953875	SERPINA1	c.840T= (p.Asp280=)
14	g.94380948A>C	CA390848463	SERPINA1	c.840T>G (p.Asp280Glu)	dbSNP
14	g.94380948A>G	CA177903	SERPINA1	c.840T>C (p.Asp280=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380948A>T	CA390848464	SERPINA1	c.840T>A (p.Asp280Glu)	dbSNP gnomAD v3 gnomAD v4
14	g.94380948_94380949delinsG	CA919481991	SERPINA1	c.839_840delinsC (p.Asp280AlafsTer?)	dbSNP
14	g.94380948_94380949delinsAT	CA2155953876	SERPINA1	c.839_840delinsAT (p.Asp280=)
14	g.94380949del	CA919481992	SERPINA1	c.839del (p.Asp280ValfsTer?)	dbSNP
14	g.94380949T>A	CA127689	SERPINA1	c.839A>T (p.Asp280Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380949T>C	CA390848465	SERPINA1	c.839A>G (p.Asp280Gly)	gnomAD v4
14	g.94380949T>G	CA390848466	SERPINA1	c.839A>C (p.Asp280Ala)
14	g.94380949T=	CA2155953877	SERPINA1	c.839A= (p.Asp280=)
14	g.94380950C>A	CA390848469	SERPINA1	c.838G>T (p.Asp280Tyr)
14	g.94380950C>G	CA390848467	SERPINA1	c.838G>C (p.Asp280His)
14	g.94380950C>T	CA390848468	SERPINA1	c.838G>A (p.Asp280Asn)
14	g.94380951A>C	CA487840982	SERPINA1	c.837T>G (p.Pro279=)
14	g.94380951A>G	CA487840983	SERPINA1	c.837T>C (p.Pro279=)
14	g.94380951A>T	CA487840984	SERPINA1	c.837T>A (p.Pro279=)
14	g.94380952G>A	CA390848470	SERPINA1	c.836C>T (p.Pro279Leu)
14	g.94380952G>C	CA390848472	SERPINA1	c.836C>G (p.Pro279Arg)
14	g.94380952G>T	CA390848473	SERPINA1	c.836C>A (p.Pro279His)
14	g.94380953G>A	CA390848475	SERPINA1	c.835C>T (p.Pro279Ser)	gnomAD v4
14	g.94380953G>C	CA390848476	SERPINA1	c.835C>G (p.Pro279Ala)
14	g.94380953G=	CA2155953878	SERPINA1	c.835C= (p.Pro279=)
14	g.94380953G>T	CA7327396	SERPINA1	c.835C>A (p.Pro279Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380954C>A	CA487840985	SERPINA1	c.834G>T (p.Leu278=)
14	g.94380954C>G	CA487840987	SERPINA1	c.834G>C (p.Leu278=)
14	g.94380954C>T	CA487840986	SERPINA1	c.834G>A (p.Leu278=)	gnomAD v4
14	g.94380955A=	CA2155953879	SERPINA1	c.833T= (p.Leu278=)
14	g.94380955A>C	CA390848479	SERPINA1	c.833T>G (p.Leu278Arg)
14	g.94380955A>G	CA390848480	SERPINA1	c.833T>C (p.Leu278Pro)	ClinVar dbSNP gnomAD v4
14	g.94380955A>T	CA390848481	SERPINA1	c.833T>A (p.Leu278Gln)
14	g.94380956G>A	CA487840988	SERPINA1	c.832C>T (p.Leu278=)
14	g.94380956G>C	CA390848483	SERPINA1	c.832C>G (p.Leu278Val)
14	g.94380956G>T	CA390848485	SERPINA1	c.832C>A (p.Leu278Met)
14	g.94380957G>A	CA487840989	SERPINA1	c.831C>T (p.Phe277=)	gnomAD v4 COSMIC
14	g.94380957G>C	CA390848487	SERPINA1	c.831C>G (p.Phe277Leu)
14	g.94380957G>T	CA390848488	SERPINA1	c.831C>A (p.Phe277Leu)
14	g.94380962_94380964del	CA2626309433	SERPINA1	c.829_831del (p.Phe277del)	gnomAD v4
14	g.94380958A>C	CA390848489	SERPINA1	c.830T>G (p.Phe277Cys)
14	g.94380958A>G	CA390848492	SERPINA1	c.830T>C (p.Phe277Ser)
14	g.94380958A>T	CA390848490	SERPINA1	c.830T>A (p.Phe277Tyr)
14	g.94380959A>C	CA390848494	SERPINA1	c.829T>G (p.Phe277Val)
14	g.94380959A>G	CA390848496	SERPINA1	c.829T>C (p.Phe277Leu)
14	g.94380959A>T	CA390848497	SERPINA1	c.829T>A (p.Phe277Ile)
14	g.94380960G>A	CA487840990	SERPINA1	c.828C>T (p.Phe276=)	ClinVar dbSNP COSMIC
14	g.94380960G>C	CA390848499	SERPINA1	c.828C>G (p.Phe276Leu)
14	g.94380960G=	CA2155953880	SERPINA1	c.828C= (p.Phe276=)
14	g.94380960G>T	CA390848501	SERPINA1	c.828C>A (p.Phe276Leu)	dbSNP
14	g.94380961A>C	CA390848502	SERPINA1	c.827T>G (p.Phe276Cys)
14	g.94380961A>G	CA390848503	SERPINA1	c.827T>C (p.Phe276Ser)
14	g.94380961A>T	CA390848504	SERPINA1	c.827T>A (p.Phe276Tyr)
14	g.94380962A>C	CA390848506	SERPINA1	c.826T>G (p.Phe276Val)
14	g.94380962A>G	CA390848508	SERPINA1	c.826T>C (p.Phe276Leu)
14	g.94380962A>T	CA390848509	SERPINA1	c.826T>A (p.Phe276Ile)
14	g.94380963G>A	CA487840992	SERPINA1	c.825C>T (p.Ile275=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380963G>C	CA390848510	SERPINA1	c.825C>G (p.Ile275Met)
14	g.94380963G=	CA2155953881	SERPINA1	c.825C= (p.Ile275=)
14	g.94380963G>T	CA487840991	SERPINA1	c.825C>A (p.Ile275=)
14	g.94380964A>C	CA390848515	SERPINA1	c.824T>G (p.Ile275Ser)
14	g.94380964A>G	CA390848514	SERPINA1	c.824T>C (p.Ile275Thr)	gnomAD v4
14	g.94380964A>T	CA390848512	SERPINA1	c.824T>A (p.Ile275Asn)
14	g.94380965T>A	CA390848517	SERPINA1	c.823A>T (p.Ile275Phe)	dbSNP gnomAD v2 gnomAD v4
14	g.94380965T>C	CA390848518	SERPINA1	c.823A>G (p.Ile275Val)
14	g.94380965T>G	CA390848520	SERPINA1	c.823A>C (p.Ile275Leu)
14	g.94380965T=	CA2155953882	SERPINA1	c.823A= (p.Ile275=)
14	g.94380966G>A	CA7327397	SERPINA1	c.822C>T (p.Ala274=)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.94380966G>C	CA487840993	SERPINA1	c.822C>G (p.Ala274=)
14	g.94380966G=	CA2155953883	SERPINA1	c.822C= (p.Ala274=)
14	g.94380966G>T	CA487840994	SERPINA1	c.822C>A (p.Ala274=)
14	g.94380967G>A	CA390848522	SERPINA1	c.821C>T (p.Ala274Val)
14	g.94380967G>C	CA390848523	SERPINA1	c.821C>G (p.Ala274Gly)
14	g.94380967G>T	CA390848525	SERPINA1	c.821C>A (p.Ala274Asp)
14	g.94380968C>A	CA7327399	SERPINA1	c.820G>T (p.Ala274Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380968C=	CA2155953884	SERPINA1	c.820G= (p.Ala274=)
14	g.94380968C>G	CA390848528	SERPINA1	c.820G>C (p.Ala274Pro)
14	g.94380968C>T	CA7327398	SERPINA1	c.820G>A (p.Ala274Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14	g.94380969G>A	CA7327400	SERPINA1	c.819C>T (p.Thr273=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380969G>C	CA7327401	SERPINA1	c.819C>G (p.Thr273=)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.94380969G=	CA2155953885	SERPINA1	c.819C= (p.Thr273=)
14	g.94380969G>T	CA487840995	SERPINA1	c.819C>A (p.Thr273=)	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.94380970G>A	CA390848532	SERPINA1	c.818C>T (p.Thr273Ile)
14	g.94380970G>C	CA390848534	SERPINA1	c.818C>G (p.Thr273Ser)	gnomAD v4
14	g.94380970G>T	CA390848533	SERPINA1	c.818C>A (p.Thr273Asn)
14	g.94380971T>A	CA390848536	SERPINA1	c.817A>T (p.Thr273Ser)
14	g.94380971T>C	CA390848540	SERPINA1	c.817A>G (p.Thr273Ala)	gnomAD v4
14	g.94380971T>G	CA390848538	SERPINA1	c.817A>C (p.Thr273Pro)
14	g.94380972G>A	CA487840996	SERPINA1	c.816C>T (p.Ala272=)	gnomAD v4
14	g.94380972G>C	CA487840997	SERPINA1	c.816C>G (p.Ala272=)
14	g.94380972G>T	CA487840998	SERPINA1	c.816C>A (p.Ala272=)	gnomAD v4
14	g.94380973G>A	CA390848541	SERPINA1	c.815C>T (p.Ala272Val)	gnomAD v4
14	g.94380973G>C	CA390848544	SERPINA1	c.815C>G (p.Ala272Gly)
14	g.94380973G=	CA2155953886	SERPINA1	c.815C= (p.Ala272=)
14	g.94380973G>T	CA265863761	SERPINA1	c.815C>A (p.Ala272Asp)	dbSNP gnomAD v4
14	g.94380974C>A	CA390848546	SERPINA1	c.814G>T (p.Ala272Ser)
14	g.94380974C>G	CA390848547	SERPINA1	c.814G>C (p.Ala272Pro)
14	g.94380974C>T	CA390848549	SERPINA1	c.814G>A (p.Ala272Thr)
14	g.94380975A>C	CA390848551	SERPINA1	c.813T>G (p.Asn271Lys)
14	g.94380975A>G	CA487840999	SERPINA1	c.813T>C (p.Asn271=)
14	g.94380975A>T	CA390848553	SERPINA1	c.813T>A (p.Asn271Lys)	gnomAD v4
14	g.94380976T>A	CA390848555	SERPINA1	c.812A>T (p.Asn271Ile)
14	g.94380976T>C	CA390848556	SERPINA1	c.812A>G (p.Asn271Ser)
14	g.94380976T>G	CA390848557	SERPINA1	c.812A>C (p.Asn271Thr)
14	g.94380977T>A	CA390848558	SERPINA1	c.811A>T (p.Asn271Tyr)	gnomAD v4
14	g.94380977T>C	CA7327402	SERPINA1	c.811A>G (p.Asn271Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94380977T>G	CA390848560	SERPINA1	c.811A>C (p.Asn271His)
14	g.94380977T=	CA2155953887	SERPINA1	c.811A= (p.Asn271=)
14	g.94380978G>A	CA487841000	SERPINA1	c.810C>T (p.Gly270=)
14	g.94380978G>C	CA487841001	SERPINA1	c.810C>G (p.Gly270=)
14	g.94380978G>T	CA487841002	SERPINA1	c.810C>A (p.Gly270=)	gnomAD v4
14	g.94380979C>A	CA390848565	SERPINA1	c.809G>T (p.Gly270Val)
14	g.94380979C=	CA2155953888	SERPINA1	c.809G= (p.Gly270=)
14	g.94380979C>G	CA390848561	SERPINA1	c.809G>C (p.Gly270Ala)
14	g.94380979C>T	CA390848563	SERPINA1	c.809G>A (p.Gly270Asp)	dbSNP gnomAD v3 gnomAD v4
14	g.94380980C>A	CA390848566	SERPINA1	c.808G>T (p.Gly270Cys)
14	g.94380980C>G	CA390848568	SERPINA1	c.808G>C (p.Gly270Arg)
14	g.94380980C>T	CA390848570	SERPINA1	c.808G>A (p.Gly270Ser)
14	g.94380981C>A	CA487841003	SERPINA1	c.807G>T (p.Leu269=)
14	g.94380981C=	CA2155953889	SERPINA1	c.807G= (p.Leu269=)
14	g.94380981C>G	CA487841004	SERPINA1	c.807G>C (p.Leu269=)	dbSNP gnomAD v2 gnomAD v4
14	g.94380981C>T	CA487841005	SERPINA1	c.807G>A (p.Leu269=)
14	g.94380982A>C	CA390848571	SERPINA1	c.806T>G (p.Leu269Arg)
14	g.94380982A>G	CA390848573	SERPINA1	c.806T>C (p.Leu269Pro)
14	g.94380982A>T	CA390848575	SERPINA1	c.806T>A (p.Leu269Gln)
14	g.94380983G>A	CA487841006	SERPINA1	c.805C>T (p.Leu269=)	ClinVar dbSNP
14	g.94380983G>C	CA390848577	SERPINA1	c.805C>G (p.Leu269Val)
14	g.94380983G>T	CA390848579	SERPINA1	c.805C>A (p.Leu269Met)
14	g.94380984G>A	CA487841007	SERPINA1	c.804C>T (p.Tyr268=)	dbSNP gnomAD v2 gnomAD v4
14	g.94380984G>C	CA390848580	SERPINA1	c.804C>G (p.Tyr268Ter)
14	g.94380984G=	CA2155953890	SERPINA1	c.804C= (p.Tyr268=)
14	g.94380984G>T	CA390848582	SERPINA1	c.804C>A (p.Tyr268Ter)
14	g.94380985T>A	CA390848584	SERPINA1	c.803A>T (p.Tyr268Phe)	COSMIC
14	g.94380985T>C	CA390848585	SERPINA1	c.803A>G (p.Tyr268Cys)
14	g.94380985T>G	CA390848583	SERPINA1	c.803A>C (p.Tyr268Ser)
14	g.94380986A>C	CA390848586	SERPINA1	c.802T>G (p.Tyr268Asp)
14	g.94380986A>G	CA390848587	SERPINA1	c.802T>C (p.Tyr268His)
14	g.94380986A>T	CA390848588	SERPINA1	c.802T>A (p.Tyr268Asn)
14	g.94380987T>A	CA390848590	SERPINA1	c.801A>T (p.Lys267Asn)
14	g.94380987T>C	CA487841008	SERPINA1	c.801A>G (p.Lys267=)	gnomAD v4
14	g.94380987T>G	CA390848591	SERPINA1	c.801A>C (p.Lys267Asn)	dbSNP
14	g.94380987T=	CA2155953891	SERPINA1	c.801A= (p.Lys267=)
14	g.94380988T>A	CA390848593	SERPINA1	c.800A>T (p.Lys267Ile)
14	g.94380988T>C	CA390848594	SERPINA1	c.800A>G (p.Lys267Arg)	COSMIC
14	g.94380988T>G	CA390848596	SERPINA1	c.800A>C (p.Lys267Thr)
14	g.94380989T>A	CA390848597	SERPINA1	c.799A>T (p.Lys267Ter)
14	g.94380989T>C	CA390848598	SERPINA1	c.799A>G (p.Lys267Glu)
14	g.94380989T>G	CA390848599	SERPINA1	c.799A>C (p.Lys267Gln)	gnomAD v4
14	g.94380990C>A	CA390848601	SERPINA1	c.798G>T (p.Met266Ile)
14	g.94380990C>G	CA390848602	SERPINA1	c.798G>C (p.Met266Ile)
14	g.94380990C>T	CA390848600	SERPINA1	c.798G>A (p.Met266Ile)
14	g.94380991A=	CA2155953892	SERPINA1	c.797T= (p.Met266=)
14	g.94380991A>C	CA390848604	SERPINA1	c.797T>G (p.Met266Arg)
14	g.94380991A>G	CA7327403	SERPINA1	c.797T>C (p.Met266Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.94380991A>T	CA390848606	SERPINA1	c.797T>A (p.Met266Lys)
14	g.94380992T>A	CA390848607	SERPINA1	c.796A>T (p.Met266Leu)
14	g.94380992T>C	CA390848609	SERPINA1	c.796A>G (p.Met266Val)
14	g.94380992T>G	CA390848611	SERPINA1	c.796A>C (p.Met266Leu)
14	g.94380993C>A	CA487841011	SERPINA1	c.795G>T (p.Leu265=)
14	g.94380993C=	CA2155953893	SERPINA1	c.795G= (p.Leu265=)
14	g.94380993C>G	CA487841012	SERPINA1	c.795G>C (p.Leu265=)
14	g.94380993C>T	CA7327404	SERPINA1	c.795G>A (p.Leu265=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14	g.94380994A>C	CA390848613	SERPINA1	c.794T>G (p.Leu265Arg)
14	g.94380994A>G	CA390848614	SERPINA1	c.794T>C (p.Leu265Pro)
14	g.94380994A>T	CA390848616	SERPINA1	c.794T>A (p.Leu265Gln)
14	g.94380995G>A	CA7327405	SERPINA1	c.793C>T (p.Leu265=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14	g.94380995G>C	CA390848618	SERPINA1	c.793C>G (p.Leu265Val)	dbSNP gnomAD v3 gnomAD v4
14	g.94380995G=	CA2155953894	SERPINA1	c.793C= (p.Leu265=)
14	g.94380995G>T	CA390848620	SERPINA1	c.793C>A (p.Leu265Met)
14	g.94380996C>A	CA487841014	SERPINA1	c.792G>T (p.Leu264=)
14	g.94380996C=	CA2155953895	SERPINA1	c.792G= (p.Leu264=)
14	g.94380996C>G	CA487841015	SERPINA1	c.792G>C (p.Leu264=)
14	g.94380996C>T	CA487841017	SERPINA1	c.792G>A (p.Leu264=)	ClinVar dbSNP gnomAD v2
14	g.94380997A>C	CA390848625	SERPINA1	c.791T>G (p.Leu264Arg)
14	g.94380997A>G	CA390848623	SERPINA1	c.791T>C (p.Leu264Pro)
14	g.94380997A>T	CA390848622	SERPINA1	c.791T>A (p.Leu264Gln)
14	g.94380998G>A	CA487841018	SERPINA1	c.790C>T (p.Leu264=)
14	g.94380998G>C	CA390848627	SERPINA1	c.790C>G (p.Leu264Val)
14	g.94380998G>T	CA390848629	SERPINA1	c.790C>A (p.Leu264Met)
14	g.94380999C>A	CA487841019	SERPINA1	c.789G>T (p.Val263=)
14	g.94380999C>G	CA487841020	SERPINA1	c.789G>C (p.Val263=)
14	g.94380999C>T	CA487841021	SERPINA1	c.789G>A (p.Val263=)
14	g.94381000A>C	CA390848630	SERPINA1	c.788T>G (p.Val263Gly)
14	g.94381000A>G	CA390848632	SERPINA1	c.788T>C (p.Val263Ala)
14	g.94381000A>T	CA390848634	SERPINA1	c.788T>A (p.Val263Glu)
14	g.94381000_94381001delinsAC	CA2155953896	SERPINA1	c.787_788delinsGT (p.Val263=)
14	g.94381001C>A	CA390848636	SERPINA1	c.787G>T (p.Val263Leu)
14	g.94381001C>G	CA390848637	SERPINA1	c.787G>C (p.Val263Leu)
14	g.94381001C>T	CA390848638	SERPINA1	c.787G>A (p.Val263Met)
14	g.94381003del	CA616114856	SERPINA1	c.787del (p.Val263CysfsTer3)	ClinVar dbSNP gnomAD v2
14	g.94381002C>A	CA390848640	SERPINA1	c.786G>T (p.Trp262Cys)	dbSNP gnomAD v2 gnomAD v4
14	g.94381002C=	CA2155953897	SERPINA1	c.786G= (p.Trp262=)
14	g.94381002C>G	CA390848642	SERPINA1	c.786G>C (p.Trp262Cys)
14	g.94381002C>T	CA390848644	SERPINA1	c.786G>A (p.Trp262Ter)
14	g.94381003C>A	CA390848645	SERPINA1	c.785G>T (p.Trp262Leu)	gnomAD v4
14	g.94381003C>G	CA390848647	SERPINA1	c.785G>C (p.Trp262Ser)
14	g.94381003C>T	CA390848648	SERPINA1	c.785G>A (p.Trp262Ter)
14	g.94381004A>C	CA390848653	SERPINA1	c.784T>G (p.Trp262Gly)
14	g.94381004A>G	CA390848650	SERPINA1	c.784T>C (p.Trp262Arg)
14	g.94381004A>T	CA390848651	SERPINA1	c.784T>A (p.Trp262Arg)
14	g.94381005G>A	CA487841025	SERPINA1	c.783C>T (p.Ser261=)
14	g.94381005G>C	CA390848655	SERPINA1	c.783C>G (p.Ser261Arg)
14	g.94381005G>T	CA390848657	SERPINA1	c.783C>A (p.Ser261Arg)
14	g.94381006C>A	CA7327406	SERPINA1	c.782G>T (p.Ser261Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.94381006C=	CA2155953898	SERPINA1	c.782G= (p.Ser261=)
14	g.94381006C>G	CA390848658	SERPINA1	c.782G>C (p.Ser261Thr)	gnomAD v4
14	g.94381006C>T	CA390848660	SERPINA1	c.782G>A (p.Ser261Asn)

Number of alleles fetched