Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
4	g.41746119_41746132del	CA2586973813	PHOX2B	c.621_634del (p.Ser207ArgfsTer?) n.442_455del
4	g.41746119A>C	CA16611436	PHOX2B	c.633T>G (p.Asn211Lys) n.454T>G	ClinVar dbSNP
4	g.41746119A>G	CA439143006	PHOX2B	c.633T>C (p.Asn211=) n.454T>C	ClinVar gnomAD v4
4	g.41746119A>T	CA356737590	PHOX2B	c.633T>A (p.Asn211Lys) n.454T>A	gnomAD v4
4	g.41746120T>A	CA356737593	PHOX2B	c.632A>T (p.Asn211Ile) n.453A>T	ClinVar
4	g.41746120T>C	CA356737595	PHOX2B	c.632A>G (p.Asn211Ser) n.453A>G	ClinVar dbSNP gnomAD v4
4	g.41746120T>G	CA356737596	PHOX2B	c.632A>C (p.Asn211Thr) n.453A>C	dbSNP gnomAD v3 gnomAD v4
4	g.41746121T>A	CA356737598	PHOX2B	c.631A>T (p.Asn211Tyr) n.452A>T
4	g.41746121T>C	CA356737603	PHOX2B	c.631A>G (p.Asn211Asp) n.452A>G
4	g.41746121T>G	CA356737600	PHOX2B	c.631A>C (p.Asn211His) n.452A>C
4	g.41746122C>A	CA2901473	PHOX2B	c.630G>T (p.Ala210=) n.451G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746122C>G	CA439143013	PHOX2B	c.630G>C (p.Ala210=) n.451G>C
4	g.41746122C>T	CA439143015	PHOX2B	c.630G>A (p.Ala210=) n.451G>A	gnomAD v4 COSMIC
4	g.41746123G>A	CA356737607	PHOX2B	c.629C>T (p.Ala210Val) n.450C>T	dbSNP gnomAD v2 gnomAD v4 COSMIC
4	g.41746123G>C	CA356737608	PHOX2B	c.629C>G (p.Ala210Gly) n.450C>G
4	g.41746123G>T	CA356737622	PHOX2B	c.629C>A (p.Ala210Glu) n.450C>A	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746124C>A	CA356737626	PHOX2B	c.628G>T (p.Ala210Ser) n.449G>T	dbSNP gnomAD v2 gnomAD v4
4	g.41746124C>G	CA356737630	PHOX2B	c.628G>C (p.Ala210Pro) n.449G>C	ClinVar dbSNP
4	g.41746124C>T	CA356737628	PHOX2B	c.628G>A (p.Ala210Thr) n.449G>A
4	g.41746125C>A	CA439143023	PHOX2B	c.627G>T (p.Gly209=) n.448G>T	ClinVar gnomAD v4
4	g.41746125C>G	CA439143019	PHOX2B	c.627G>C (p.Gly209=) n.448G>C
4	g.41746125C>T	CA439143021	PHOX2B	c.627G>A (p.Gly209=) n.448G>A
4	g.41746126C>A	CA356737632	PHOX2B	c.626G>T (p.Gly209Val) n.447G>T	gnomAD v4
4	g.41746126C>G	CA356737634	PHOX2B	c.626G>C (p.Gly209Ala) n.447G>C
4	g.41746126C>T	CA356737637	PHOX2B	c.626G>A (p.Gly209Glu) n.447G>A	ClinVar dbSNP
4	g.41746127C>A	CA356737640	PHOX2B	c.625G>T (p.Gly209Trp) n.446G>T
4	g.41746127C>G	CA356737643	PHOX2B	c.625G>C (p.Gly209Arg) n.446G>C
4	g.41746127C>T	CA356737644	PHOX2B	c.625G>A (p.Gly209Arg) n.446G>A
4	g.41746128G>A	CA16611443	PHOX2B	c.624C>T (p.Cys208=) n.445C>T	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
4	g.41746128G>C	CA356737647	PHOX2B	c.624C>G (p.Cys208Trp) n.445C>G	ClinVar
4	g.41746128G>T	CA356737650	PHOX2B	c.624C>A (p.Cys208Ter) n.445C>A	gnomAD v4 COSMIC
4	g.41746129C>A	CA356737653	PHOX2B	c.623G>T (p.Cys208Phe) n.444G>T
4	g.41746129C>G	CA356737656	PHOX2B	c.623G>C (p.Cys208Ser) n.444G>C
4	g.41746129C>T	CA356737658	PHOX2B	c.623G>A (p.Cys208Tyr) n.444G>A
4	g.41746130A>C	CA356737665	PHOX2B	c.622T>G (p.Cys208Gly) n.443T>G
4	g.41746130A>G	CA356737660	PHOX2B	c.622T>C (p.Cys208Arg) n.443T>C
4	g.41746130A>T	CA356737662	PHOX2B	c.622T>A (p.Cys208Ser) n.443T>A
4	g.41746131G>A	CA439143034	PHOX2B	c.621C>T (p.Ser207=) n.442C>T	ClinVar
4	g.41746131G>C	CA356737667	PHOX2B	c.621C>G (p.Ser207Arg) n.442C>G
4	g.41746131G>T	CA356737673	PHOX2B	c.621C>A (p.Ser207Arg) n.442C>A
4	g.41746132C>A	CA356737676	PHOX2B	c.620G>T (p.Ser207Ile) n.441G>T	ClinVar gnomAD v4 COSMIC
4	g.41746132C>G	CA356737677	PHOX2B	c.620G>C (p.Ser207Thr) n.441G>C
4	g.41746132C>T	CA356737680	PHOX2B	c.620G>A (p.Ser207Asn) n.441G>A
4	g.41746133T>A	CA356737683	PHOX2B	c.619A>T (p.Ser207Cys) n.440A>T
4	g.41746133T>C	CA356737685	PHOX2B	c.619A>G (p.Ser207Gly) n.440A>G	ClinVar dbSNP gnomAD v4
4	g.41746133T>G	CA356737688	PHOX2B	c.619A>C (p.Ser207Arg) n.440A>C	gnomAD v4
4	g.41746138_41746143dup	CA2578074977	PHOX2B	c.614_619dup (p.Pro206_Ser207insThrPro) n.435_440dup	ClinVar
4	g.41746134G>A	CA439143045	PHOX2B	c.618C>T (p.Pro206=) n.439C>T	ClinVar gnomAD v4
4	g.41746134G>C	CA439143046	PHOX2B	c.618C>G (p.Pro206=) n.439C>G
4	g.41746134G>T	CA439143047	PHOX2B	c.618C>A (p.Pro206=) n.439C>A
4	g.41746134_41746138del	CA2586973815	PHOX2B	c.614_618del (p.Thr205LysfsTer?) n.435_439del
4	g.41746138dup	CA253678	PHOX2B	c.618dup (p.Ser207GlnfsTer?) n.439dup	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746138del	CA915943037	PHOX2B	c.618del (p.Ser207AlafsTer?) n.439del	ClinVar dbSNP gnomAD v4
4	g.41746136_41746143del	CA2586973814	PHOX2B	c.611_618del (p.Pro204GlnfsTer?) n.432_439del
4	g.41746134_41746135insA	CA2586973816	PHOX2B	c.617_618insT (p.Ser207GlnfsTer?) n.438_439insT
4	g.41746135G>A	CA356737694	PHOX2B	c.617C>T (p.Pro206Leu) n.438C>T	ClinVar dbSNP gnomAD v4
4	g.41746135G>C	CA161478	PHOX2B	c.617C>G (p.Pro206Arg) n.438C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746135G>T	CA356737697	PHOX2B	c.617C>A (p.Pro206His) n.438C>A	dbSNP gnomAD v2
4	g.41746135_41746136insA	CA2586973817	PHOX2B	c.616_617insT (p.Pro206LeufsTer?) n.437_438insT
4	g.41746136G>A	CA2901474	PHOX2B	c.616C>T (p.Pro206Ser) n.437C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746136G>C	CA356737702	PHOX2B	c.616C>G (p.Pro206Ala) n.437C>G
4	g.41746136G>T	CA356737712	PHOX2B	c.616C>A (p.Pro206Thr) n.437C>A
4	g.41746137G>A	CA439143051	PHOX2B	c.615C>T (p.Thr205=) n.436C>T	ClinVar
4	g.41746137G>C	CA439143052	PHOX2B	c.615C>G (p.Thr205=) n.436C>G
4	g.41746137G>T	CA439143053	PHOX2B	c.615C>A (p.Thr205=) n.436C>A
4	g.41746138G>A	CA356737716	PHOX2B	c.614C>T (p.Thr205Ile) n.435C>T	ClinVar gnomAD v4
4	g.41746138G>C	CA356737721	PHOX2B	c.614C>G (p.Thr205Ser) n.435C>G	ClinVar gnomAD v4
4	g.41746138G>T	CA356737718	PHOX2B	c.614C>A (p.Thr205Asn) n.435C>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746139T>A	CA356737724	PHOX2B	c.613A>T (p.Thr205Ser) n.434A>T
4	g.41746139T>C	CA356737727	PHOX2B	c.613A>G (p.Thr205Ala) n.434A>G
4	g.41746139T>G	CA356737731	PHOX2B	c.613A>C (p.Thr205Pro) n.434A>C	ClinVar dbSNP
4	g.41746140G>A	CA439143069	PHOX2B	c.612C>T (p.Pro204=) n.433C>T	ClinVar
4	g.41746140G>C	CA439143068	PHOX2B	c.612C>G (p.Pro204=) n.433C>G
4	g.41746140G>T	CA439143066	PHOX2B	c.612C>A (p.Pro204=) n.433C>A
4	g.41746141G>A	CA356737735	PHOX2B	c.611C>T (p.Pro204Leu) n.432C>T	dbSNP
4	g.41746141G>C	CA356737737	PHOX2B	c.611C>G (p.Pro204Arg) n.432C>G
4	g.41746141G>T	CA356737740	PHOX2B	c.611C>A (p.Pro204His) n.432C>A	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746142G>A	CA356737743	PHOX2B	c.610C>T (p.Pro204Ser) n.431C>T	ClinVar dbSNP
4	g.41746142G>C	CA356737746	PHOX2B	c.610C>G (p.Pro204Ala) n.431C>G	ClinVar dbSNP gnomAD v4
4	g.41746142G>T	CA356737748	PHOX2B	c.610C>A (p.Pro204Thr) n.431C>A	ClinVar dbSNP gnomAD v4
4	g.41746142_41746143delinsT	CA2586973818	PHOX2B	c.609_610delinsA (p.Asn203LysfsTer?) n.430_431delinsA	ClinVar
4	g.41746143G>A	CA439143079	PHOX2B	c.609C>T (p.Asn203=) n.430C>T	COSMIC
4	g.41746143G>C	CA356737750	PHOX2B	c.609C>G (p.Asn203Lys) n.430C>G
4	g.41746143G>T	CA356737753	PHOX2B	c.609C>A (p.Asn203Lys) n.430C>A	ClinVar gnomAD v4
4	g.41746144T>A	CA356737759	PHOX2B	c.608A>T (p.Asn203Ile) n.429A>T	ClinVar dbSNP
4	g.41746144T>C	CA2901475	PHOX2B	c.608A>G (p.Asn203Ser) n.429A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746144T>G	CA356737755	PHOX2B	c.608A>C (p.Asn203Thr) n.429A>C	ClinVar dbSNP gnomAD v4
4	g.41746145dup	CA2586973819	PHOX2B	c.608dup (p.Asn203LysfsTer?) n.429dup
4	g.41746150_41746155dup	CA2580616091	PHOX2B	c.603_608dup (p.Asn203_Pro204insProAsn) n.424_429dup	ClinVar
4	g.41746145T>A	CA356737768	PHOX2B	c.607A>T (p.Asn203Tyr) n.428A>T
4	g.41746145T>C	CA356737763	PHOX2B	c.607A>G (p.Asn203Asp) n.428A>G	dbSNP
4	g.41746145T>G	CA356737765	PHOX2B	c.607A>C (p.Asn203His) n.428A>C
4	g.41746146G>A	CA439143089	PHOX2B	c.606C>T (p.Pro202=) n.427C>T	ClinVar
4	g.41746146G>C	CA439143091	PHOX2B	c.606C>G (p.Pro202=) n.427C>G
4	g.41746146G>T	CA439143090	PHOX2B	c.606C>A (p.Pro202=) n.427C>A	gnomAD v4
4	g.41746147G>A	CA2901477	PHOX2B	c.605C>T (p.Pro202Leu) n.426C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4	g.41746147G>C	CA2901476	PHOX2B	c.605C>G (p.Pro202Arg) n.426C>G	ClinVar dbSNP ExAC gnomAD v4
4	g.41746147G>T	CA356737769	PHOX2B	c.605C>A (p.Pro202His) n.426C>A
4	g.41746148G>A	CA356737771	PHOX2B	c.604C>T (p.Pro202Ser) n.425C>T
4	g.41746148G>C	CA356737772	PHOX2B	c.604C>G (p.Pro202Ala) n.425C>G	ClinVar
4	g.41746148G>T	CA356737774	PHOX2B	c.604C>A (p.Pro202Thr) n.425C>A
4	g.41746149A>C	CA356737776	PHOX2B	c.603T>G (p.Asn201Lys) n.424T>G
4	g.41746149A>G	CA439143096	PHOX2B	c.603T>C (p.Asn201=) n.424T>C
4	g.41746149A>T	CA356737778	PHOX2B	c.603T>A (p.Asn201Lys) n.424T>A	ClinVar dbSNP gnomAD v4
4	g.41746150T>A	CA356737782	PHOX2B	c.602A>T (p.Asn201Ile) n.423A>T
4	g.41746150T>C	CA95828571	PHOX2B	c.602A>G (p.Asn201Ser) n.423A>G	ClinVar dbSNP gnomAD v4
4	g.41746150T>G	CA356737788	PHOX2B	c.602A>C (p.Asn201Thr) n.423A>C
4	g.41746151T>A	CA356737795	PHOX2B	c.601A>T (p.Asn201Tyr) n.422A>T
4	g.41746151T>C	CA356737791	PHOX2B	c.601A>G (p.Asn201Asp) n.422A>G	dbSNP
4	g.41746151T>G	CA356737793	PHOX2B	c.601A>C (p.Asn201His) n.422A>C
4	g.41746152G>A	CA439143107	PHOX2B	c.600C>T (p.Pro200=) n.421C>T	ClinVar gnomAD v4
4	g.41746152G>C	CA439143109	PHOX2B	c.600C>G (p.Pro200=) n.421C>G	ClinVar dbSNP
4	g.41746152G>T	CA439143111	PHOX2B	c.600C>A (p.Pro200=) n.421C>A	gnomAD v4
4	g.41746154del	CA2586973820	PHOX2B	c.600del (p.Asn201IlefsTer?) n.421del
4	g.41746153G>A	CA95828574	PHOX2B	c.599C>T (p.Pro200Leu) n.420C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746153G>C	CA356737800	PHOX2B	c.599C>G (p.Pro200Arg) n.420C>G
4	g.41746153G>T	CA356737802	PHOX2B	c.599C>A (p.Pro200His) n.420C>A	ClinVar dbSNP gnomAD v4
4	g.41746154G>A	CA356737806	PHOX2B	c.598C>T (p.Pro200Ser) n.419C>T
4	g.41746154G>C	CA356737809	PHOX2B	c.598C>G (p.Pro200Ala) n.419C>G
4	g.41746154G>T	CA356737812	PHOX2B	c.598C>A (p.Pro200Thr) n.419C>A	gnomAD v4
4	g.41746155A>C	CA439143117	PHOX2B	c.597T>G (p.Gly199=) n.418T>G
4	g.41746155A>G	CA439143119	PHOX2B	c.597T>C (p.Gly199=) n.418T>C
4	g.41746155A>T	CA439143121	PHOX2B	c.597T>A (p.Gly199=) n.418T>A
4	g.41746156C>A	CA356737818	PHOX2B	c.596G>T (p.Gly199Val) n.417G>T	COSMIC
4	g.41746156C>G	CA356737820	PHOX2B	c.596G>C (p.Gly199Ala) n.417G>C
4	g.41746156C>T	CA356737823	PHOX2B	c.596G>A (p.Gly199Asp) n.417G>A
4	g.41746158_41746166del	CA2670427176	PHOX2B	c.588_596del (p.Gly197_Gly199del) n.409_417del	gnomAD v4
4	g.41746157C>A	CA356737826	PHOX2B	c.595G>T (p.Gly199Cys) n.416G>T
4	g.41746157C>G	CA356737828	PHOX2B	c.595G>C (p.Gly199Arg) n.416G>C
4	g.41746157C>T	CA356737831	PHOX2B	c.595G>A (p.Gly199Ser) n.416G>A	gnomAD v4
4	g.41746158T>A	CA439143131	PHOX2B	c.594A>T (p.Pro198=) n.415A>T
4	g.41746158T>C	CA439143133	PHOX2B	c.594A>G (p.Pro198=) n.415A>G
4	g.41746158T>G	CA439143136	PHOX2B	c.594A>C (p.Pro198=) n.415A>C
4	g.41746159G>A	CA356737839	PHOX2B	c.593C>T (p.Pro198Leu) n.414C>T
4	g.41746159G>C	CA356737842	PHOX2B	c.593C>G (p.Pro198Arg) n.414C>G	gnomAD v4
4	g.41746159G>T	CA356737836	PHOX2B	c.593C>A (p.Pro198Gln) n.414C>A	ClinVar
4	g.41746160G>A	CA356737845	PHOX2B	c.592C>T (p.Pro198Ser) n.413C>T	ClinVar
4	g.41746160G>C	CA356737849	PHOX2B	c.592C>G (p.Pro198Ala) n.413C>G
4	g.41746160G>T	CA356737847	PHOX2B	c.592C>A (p.Pro198Thr) n.413C>A
4	g.41746161G>A	CA95828577	PHOX2B	c.591C>T (p.Gly197=) n.412C>T	ClinVar dbSNP
4	g.41746161G>C	CA2901478	PHOX2B	c.591C>G (p.Gly197=) n.412C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746161G>T	CA439143146	PHOX2B	c.591C>A (p.Gly197=) n.412C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746162C>A	CA356737854	PHOX2B	c.590G>T (p.Gly197Val) n.411G>T	ClinVar dbSNP gnomAD v4
4	g.41746162C>G	CA356737857	PHOX2B	c.590G>C (p.Gly197Ala) n.411G>C
4	g.41746162C>T	CA117908	PHOX2B	c.590G>A (p.Gly197Asp) n.411G>A	ClinVar dbSNP
4	g.41746166dup	CA2586973821	PHOX2B	c.590dup (p.Gly199ArgfsTer?) n.411dup
4	g.41746166del	CA645526522	PHOX2B	c.590del (p.Gly197AlafsTer?) n.411del	gnomAD v4 COSMIC
4	g.41746163C>A	CA356737859	PHOX2B	c.589G>T (p.Gly197Cys) n.410G>T
4	g.41746163C>G	CA356737860	PHOX2B	c.589G>C (p.Gly197Arg) n.410G>C
4	g.41746163C>T	CA356737862	PHOX2B	c.589G>A (p.Gly197Ser) n.410G>A
4	g.41746164C>A	CA439143151	PHOX2B	c.588G>T (p.Gly196=) n.409G>T
4	g.41746164C>G	CA439143152	PHOX2B	c.588G>C (p.Gly196=) n.409G>C	gnomAD v4
4	g.41746164C>T	CA439143154	PHOX2B	c.588G>A (p.Gly196=) n.409G>A
4	g.41746165C>A	CA356737865	PHOX2B	c.587G>T (p.Gly196Val) n.408G>T
4	g.41746165C>G	CA356737868	PHOX2B	c.587G>C (p.Gly196Ala) n.408G>C	gnomAD v4
4	g.41746165C>T	CA356737875	PHOX2B	c.587G>A (p.Gly196Glu) n.408G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746166C>A	CA356737878	PHOX2B	c.586G>T (p.Gly196Trp) n.407G>T
4	g.41746166C>G	CA356737881	PHOX2B	c.586G>C (p.Gly196Arg) n.407G>C
4	g.41746166C>T	CA356737884	PHOX2B	c.586G>A (p.Gly196Arg) n.407G>A	ClinVar
4	g.41746167A>C	CA439143160	PHOX2B	c.585T>G (p.Thr195=) n.406T>G
4	g.41746167A>G	CA439143157	PHOX2B	c.585T>C (p.Thr195=) n.406T>C
4	g.41746167A>T	CA439143158	PHOX2B	c.585T>A (p.Thr195=) n.406T>A	gnomAD v4
4	g.41746168G>A	CA356737889	PHOX2B	c.584C>T (p.Thr195Ile) n.405C>T
4	g.41746168G>C	CA356737885	PHOX2B	c.584C>G (p.Thr195Ser) n.405C>G
4	g.41746168G>T	CA356737887	PHOX2B	c.584C>A (p.Thr195Asn) n.405C>A	ClinVar
4	g.41746169T>A	CA356737890	PHOX2B	c.583A>T (p.Thr195Ser) n.404A>T
4	g.41746169T>C	CA356737891	PHOX2B	c.583A>G (p.Thr195Ala) n.404A>G
4	g.41746169T>G	CA356737892	PHOX2B	c.583A>C (p.Thr195Pro) n.404A>C
4	g.41746169_41746175delinsGTGCGGGG	CA2586973822	PHOX2B	c.577_583delinsCCCCGCAC (p.Asp193ProfsTer?) n.398_404delinsCCCCGCAC
4	g.41746170G>A	CA439143162	PHOX2B	c.582C>T (p.Ser194=) n.403C>T
4	g.41746170G>C	CA356737893	PHOX2B	c.582C>G (p.Ser194Arg) n.403C>G
4	g.41746170G>T	CA356737894	PHOX2B	c.582C>A (p.Ser194Arg) n.403C>A	ClinVar gnomAD v4
4	g.41746171C>A	CA356737896	PHOX2B	c.581G>T (p.Ser194Ile) n.402G>T
4	g.41746171C>G	CA356737897	PHOX2B	c.581G>C (p.Ser194Thr) n.402G>C
4	g.41746171C>T	CA356737899	PHOX2B	c.581G>A (p.Ser194Asn) n.402G>A	ClinVar
4	g.41746172T>A	CA356737901	PHOX2B	c.580A>T (p.Ser194Cys) n.401A>T
4	g.41746172T>C	CA356737905	PHOX2B	c.580A>G (p.Ser194Gly) n.401A>G
4	g.41746172T>G	CA356737907	PHOX2B	c.580A>C (p.Ser194Arg) n.401A>C
4	g.41746173G>A	CA439143168	PHOX2B	c.579C>T (p.Asp193=) n.400C>T	ClinVar
4	g.41746173G>C	CA356737913	PHOX2B	c.579C>G (p.Asp193Glu) n.400C>G	ClinVar dbSNP
4	g.41746173G>T	CA356737910	PHOX2B	c.579C>A (p.Asp193Glu) n.400C>A	ClinVar dbSNP
4	g.41746174T>A	CA356737916	PHOX2B	c.578A>T (p.Asp193Val) n.399A>T
4	g.41746174T>C	CA356737918	PHOX2B	c.578A>G (p.Asp193Gly) n.399A>G
4	g.41746174T>G	CA356737921	PHOX2B	c.578A>C (p.Asp193Ala) n.399A>C
4	g.41746175C>A	CA356737923	PHOX2B	c.577G>T (p.Asp193Tyr) n.398G>T
4	g.41746175C>G	CA356737926	PHOX2B	c.577G>C (p.Asp193His) n.398G>C	ClinVar dbSNP gnomAD v4
4	g.41746175C>T	CA356737928	PHOX2B	c.577G>A (p.Asp193Asn) n.398G>A
4	g.41746176del	CA2580071014	PHOX2B	c.577del (p.Asp193ThrfsTer?) n.398del	ClinVar
4	g.41746176C>A	CA439143174	PHOX2B	c.576G>T (p.Pro192=) n.397G>T
4	g.41746176C>G	CA439143176	PHOX2B	c.576G>C (p.Pro192=) n.397G>C
4	g.41746176C>T	CA439143180	PHOX2B	c.576G>A (p.Pro192=) n.397G>A	ClinVar dbSNP gnomAD v4
4	g.41746177G>A	CA356737935	PHOX2B	c.575C>T (p.Pro192Leu) n.396C>T	ClinVar dbSNP
4	g.41746177G>C	CA356737931	PHOX2B	c.575C>G (p.Pro192Arg) n.396C>G
4	g.41746177G>T	CA356737933	PHOX2B	c.575C>A (p.Pro192Gln) n.396C>A
4	g.41746179del	CA2580071015	PHOX2B	c.575del (p.Pro192ArgfsTer?) n.396del	ClinVar
4	g.41746178G>A	CA356737936	PHOX2B	c.574C>T (p.Pro192Ser) n.395C>T
4	g.41746178G>C	CA356737937	PHOX2B	c.574C>G (p.Pro192Ala) n.395C>G
4	g.41746178G>T	CA356737939	PHOX2B	c.574C>A (p.Pro192Thr) n.395C>A
4	g.41746179G>A	CA439143185	PHOX2B	c.573C>T (p.Asp191=) n.394C>T	dbSNP
4	g.41746179G>C	CA356737941	PHOX2B	c.573C>G (p.Asp191Glu) n.394C>G
4	g.41746179G>T	CA356737942	PHOX2B	c.573C>A (p.Asp191Glu) n.394C>A
4	g.41746180T>A	CA356737943	PHOX2B	c.572A>T (p.Asp191Val) n.393A>T
4	g.41746180T>C	CA356737949	PHOX2B	c.572A>G (p.Asp191Gly) n.393A>G
4	g.41746180T>G	CA356737947	PHOX2B	c.572A>C (p.Asp191Ala) n.393A>C
4	g.41746181C>A	CA356737955	PHOX2B	c.571G>T (p.Asp191Tyr) n.392G>T
4	g.41746181C>G	CA356737958	PHOX2B	c.571G>C (p.Asp191His) n.392G>C	ClinVar
4	g.41746181C>T	CA356737960	PHOX2B	c.571G>A (p.Asp191Asn) n.392G>A
4	g.41746182A>C	CA439143197	PHOX2B	c.570T>G (p.Thr190=) n.391T>G
4	g.41746182A>G	CA439143198	PHOX2B	c.570T>C (p.Thr190=) n.391T>C	ClinVar
4	g.41746182A>T	CA439143199	PHOX2B	c.570T>A (p.Thr190=) n.391T>A
4	g.41746183G>A	CA356737962	PHOX2B	c.569C>T (p.Thr190Ile) n.390C>T	ClinVar dbSNP
4	g.41746183G>C	CA356737963	PHOX2B	c.569C>G (p.Thr190Ser) n.390C>G
4	g.41746183G>T	CA356737967	PHOX2B	c.569C>A (p.Thr190Asn) n.390C>A
4	g.41746184T>A	CA356737970	PHOX2B	c.568A>T (p.Thr190Ser) n.389A>T	ClinVar
4	g.41746184T>C	CA356737973	PHOX2B	c.568A>G (p.Thr190Ala) n.389A>G	dbSNP
4	g.41746184T>G	CA356737976	PHOX2B	c.568A>C (p.Thr190Pro) n.389A>C
4	g.41746185G>A	CA439143204	PHOX2B	c.567C>T (p.Ser189=) n.388C>T
4	g.41746185G>C	CA356737978	PHOX2B	c.567C>G (p.Ser189Arg) n.388C>G	ClinVar
4	g.41746185G>T	CA356737980	PHOX2B	c.567C>A (p.Ser189Arg) n.388C>A
4	g.41746186C>A	CA356737997	PHOX2B	c.566G>T (p.Ser189Ile) n.387G>T
4	g.41746186C>G	CA356737989	PHOX2B	c.566G>C (p.Ser189Thr) n.387G>C
4	g.41746186C>T	CA356737985	PHOX2B	c.566G>A (p.Ser189Asn) n.387G>A
4	g.41746187T>A	CA356738005	PHOX2B	c.565A>T (p.Ser189Cys) n.386A>T
4	g.41746187T>C	CA356738007	PHOX2B	c.565A>G (p.Ser189Gly) n.386A>G
4	g.41746187T>G	CA356738011	PHOX2B	c.565A>C (p.Ser189Arg) n.386A>C
4	g.41746188C>A	CA356738014	PHOX2B	c.564G>T (p.Lys188Asn) n.385G>T	ClinVar
4	g.41746188C>G	CA356738025	PHOX2B	c.564G>C (p.Lys188Asn) n.385G>C	ClinVar dbSNP
4	g.41746188C>T	CA439143208	PHOX2B	c.564G>A (p.Lys188=) n.385G>A	ClinVar
4	g.41746189T>A	CA356738033	PHOX2B	c.563A>T (p.Lys188Met) n.384A>T
4	g.41746189T>C	CA356738030	PHOX2B	c.563A>G (p.Lys188Arg) n.384A>G
4	g.41746189T>G	CA356738028	PHOX2B	c.563A>C (p.Lys188Thr) n.384A>C
4	g.41746190T>A	CA356738044	PHOX2B	c.562A>T (p.Lys188Ter) n.383A>T
4	g.41746190T>C	CA356738047	PHOX2B	c.562A>G (p.Lys188Glu) n.383A>G
4	g.41746190T>G	CA356738051	PHOX2B	c.562A>C (p.Lys188Gln) n.383A>C	dbSNP
4	g.41746191G>A	CA439143222	PHOX2B	c.561C>T (p.Ala187=) n.382C>T	COSMIC
4	g.41746191G>C	CA439143223	PHOX2B	c.561C>G (p.Ala187=) n.382C>G
4	g.41746191G>T	CA439143224	PHOX2B	c.561C>A (p.Ala187=) n.382C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746192G>A	CA356738055	PHOX2B	c.560C>T (p.Ala187Val) n.381C>T	ClinVar dbSNP
4	g.41746192G>C	CA356738061	PHOX2B	c.560C>G (p.Ala187Gly) n.381C>G
4	g.41746192G>T	CA356738065	PHOX2B	c.560C>A (p.Ala187Asp) n.381C>A	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746193C>A	CA356738078	PHOX2B	c.559G>T (p.Ala187Ser) n.380G>T
4	g.41746193C>G	CA356738070	PHOX2B	c.559G>C (p.Ala187Pro) n.380G>C
4	g.41746193C>T	CA356738075	PHOX2B	c.559G>A (p.Ala187Thr) n.380G>A	dbSNP gnomAD v2 gnomAD v4
4	g.41746194C>A	CA356738080	PHOX2B	c.558G>T (p.Glu186Asp) n.379G>T
4	g.41746194C>G	CA356738086	PHOX2B	c.558G>C (p.Glu186Asp) n.379G>C
4	g.41746194C>T	CA439143232	PHOX2B	c.558G>A (p.Glu186=) n.379G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746195T>A	CA356738091	PHOX2B	c.557A>T (p.Glu186Val) n.378A>T
4	g.41746195T>C	CA356738093	PHOX2B	c.557A>G (p.Glu186Gly) n.378A>G	dbSNP
4	g.41746195T>G	CA356738100	PHOX2B	c.557A>C (p.Glu186Ala) n.378A>C
4	g.41746196C>A	CA356738103	PHOX2B	c.556G>T (p.Glu186Ter) n.377G>T
4	g.41746196C>G	CA356738109	PHOX2B	c.556G>C (p.Glu186Gln) n.377G>C	gnomAD v4
4	g.41746196C>T	CA356738112	PHOX2B	c.556G>A (p.Glu186Lys) n.377G>A	ClinVar dbSNP gnomAD v4
4	g.41746197T>A	CA356738115	PHOX2B	c.555A>T (p.Lys185Asn) n.376A>T
4	g.41746197T>C	CA439143237	PHOX2B	c.555A>G (p.Lys185=) n.376A>G
4	g.41746197T>G	CA356738117	PHOX2B	c.555A>C (p.Lys185Asn) n.376A>C
4	g.41746198T>A	CA356738121	PHOX2B	c.554A>T (p.Lys185Ile) n.375A>T
4	g.41746198T>C	CA356738124	PHOX2B	c.554A>G (p.Lys185Arg) n.375A>G
4	g.41746198T>G	CA356738127	PHOX2B	c.554A>C (p.Lys185Thr) n.375A>C
4	g.41746199T>A	CA356738129	PHOX2B	c.553A>T (p.Lys185Ter) n.374A>T
4	g.41746199T>C	CA356738139	PHOX2B	c.553A>G (p.Lys185Glu) n.374A>G	ClinVar dbSNP gnomAD v4
4	g.41746199T>G	CA356738136	PHOX2B	c.553A>C (p.Lys185Gln) n.374A>C
4	g.41746200G>A	CA2901479	PHOX2B	c.552C>T (p.Ser184=) n.373C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746200G>C	CA356738149	PHOX2B	c.552C>G (p.Ser184Arg) n.373C>G
4	g.41746200G=	CA2581415995	PHOX2B	c.552C= (p.Ser184=) n.373C=
4	g.41746200G>T	CA356738153	PHOX2B	c.552C>A (p.Ser184Arg) n.373C>A
4	g.41746201C>A	CA356738157	PHOX2B	c.551G>T (p.Ser184Ile) n.372G>T
4	g.41746201C>G	CA356738161	PHOX2B	c.551G>C (p.Ser184Thr) n.372G>C
4	g.41746201C>T	CA356738164	PHOX2B	c.551G>A (p.Ser184Asn) n.372G>A	gnomAD v4
4	g.41746202T>A	CA356738168	PHOX2B	c.550A>T (p.Ser184Cys) n.371A>T
4	g.41746202T>C	CA356738171	PHOX2B	c.550A>G (p.Ser184Gly) n.371A>G	ClinVar dbSNP gnomAD v4
4	g.41746202T>G	CA356738174	PHOX2B	c.550A>C (p.Ser184Arg) n.371A>C
4	g.41746203C>A	CA356738176	PHOX2B	c.549G>T (p.Glu183Asp) n.370G>T
4	g.41746203C>G	CA356738178	PHOX2B	c.549G>C (p.Glu183Asp) n.370G>C	gnomAD v4
4	g.41746203C>T	CA2901480	PHOX2B	c.549G>A (p.Glu183=) n.370G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746204T>A	CA356738194	PHOX2B	c.548A>T (p.Glu183Val) n.369A>T
4	g.41746204T>C	CA356738188	PHOX2B	c.548A>G (p.Glu183Gly) n.369A>G
4	g.41746204T>G	CA356738191	PHOX2B	c.548A>C (p.Glu183Ala) n.369A>C
4	g.41746205C>A	CA356738201	PHOX2B	c.547G>T (p.Glu183Ter) n.368G>T	ClinVar dbSNP
4	g.41746205C>G	CA356738206	PHOX2B	c.547G>C (p.Glu183Gln) n.368G>C
4	g.41746205C>T	CA356738208	PHOX2B	c.547G>A (p.Glu183Lys) n.368G>A	ClinVar gnomAD v4
4	g.41746206G>A	CA439143269	PHOX2B	c.546C>T (p.Asp182=) n.367C>T	ClinVar gnomAD v4
4	g.41746206G>C	CA356738210	PHOX2B	c.546C>G (p.Asp182Glu) n.367C>G
4	g.41746206G>T	CA356738214	PHOX2B	c.546C>A (p.Asp182Glu) n.367C>A	ClinVar dbSNP
4	g.41746207T>A	CA356738216	PHOX2B	c.545A>T (p.Asp182Val) n.366A>T
4	g.41746207T>C	CA356738219	PHOX2B	c.545A>G (p.Asp182Gly) n.366A>G	ClinVar
4	g.41746207T>G	CA356738221	PHOX2B	c.545A>C (p.Asp182Ala) n.366A>C	ClinVar dbSNP COSMIC
4	g.41746208C>A	CA356738223	PHOX2B	c.544G>T (p.Asp182Tyr) n.365G>T	dbSNP gnomAD v2
4	g.41746208C>G	CA356738224	PHOX2B	c.544G>C (p.Asp182His) n.365G>C	dbSNP gnomAD v2 gnomAD v4
4	g.41746208C>T	CA356738229	PHOX2B	c.544G>A (p.Asp182Asn) n.365G>A	ClinVar dbSNP gnomAD v4 COSMIC
4	g.41746209G>A	CA2901481	PHOX2B	c.543C>T (p.Asp181=) n.364C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746209G>C	CA356738235	PHOX2B	c.543C>G (p.Asp181Glu) n.364C>G	ClinVar
4	g.41746209G>T	CA356738234	PHOX2B	c.543C>A (p.Asp181Glu) n.364C>A
4	g.41746210T>A	CA356738238	PHOX2B	c.542A>T (p.Asp181Val) n.363A>T
4	g.41746210T>C	CA356738248	PHOX2B	c.542A>G (p.Asp181Gly) n.363A>G
4	g.41746210T>G	CA356738247	PHOX2B	c.542A>C (p.Asp181Ala) n.363A>C
4	g.41746211C>A	CA356738250	PHOX2B	c.541G>T (p.Asp181Tyr) n.362G>T
4	g.41746211C>G	CA356738255	PHOX2B	c.541G>C (p.Asp181His) n.362G>C	gnomAD v4
4	g.41746211C>T	CA356738253	PHOX2B	c.541G>A (p.Asp181Asn) n.362G>A
4	g.41746212C>A	CA95828601	PHOX2B	c.540G>T (p.Arg180Ser) n.361G>T	dbSNP
4	g.41746212C>G	CA95828598	PHOX2B	c.540G>C (p.Arg180Ser) n.361G>C	dbSNP
4	g.41746212C>T	CA439143289	PHOX2B	c.540G>A (p.Arg180=) n.361G>A	gnomAD v4
4	g.41746213C>A	CA356738262	PHOX2B	c.539G>T (p.Arg180Met) n.360G>T
4	g.41746213C>G	CA356738264	PHOX2B	c.539G>C (p.Arg180Thr) n.360G>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746213C>T	CA356738267	PHOX2B	c.539G>A (p.Arg180Lys) n.360G>A	gnomAD v4
4	g.41746214T>A	CA356738271	PHOX2B	c.538A>T (p.Arg180Trp) n.359A>T	ClinVar
4	g.41746214T>C	CA356738273	PHOX2B	c.538A>G (p.Arg180Gly) n.359A>G
4	g.41746214T>G	CA439143299	PHOX2B	c.538A>C (p.Arg180=) n.359A>C
4	g.41746215G>A	CA439143301	PHOX2B	c.537C>T (p.Ser179=) n.358C>T
4	g.41746215G>C	CA439143304	PHOX2B	c.537C>G (p.Ser179=) n.358C>G	ClinVar
4	g.41746215G>T	CA439143303	PHOX2B	c.537C>A (p.Ser179=) n.358C>A	ClinVar dbSNP gnomAD v4
4	g.41746216G>A	CA356738280	PHOX2B	c.536C>T (p.Ser179Phe) n.357C>T
4	g.41746216G>C	CA356738276	PHOX2B	c.536C>G (p.Ser179Cys) n.357C>G
4	g.41746216G>T	CA356738279	PHOX2B	c.536C>A (p.Ser179Tyr) n.357C>A
4	g.41746217A>C	CA356738282	PHOX2B	c.535T>G (p.Ser179Ala) n.356T>G
4	g.41746217A>G	CA356738284	PHOX2B	c.535T>C (p.Ser179Pro) n.356T>C
4	g.41746217A>T	CA356738286	PHOX2B	c.535T>A (p.Ser179Thr) n.356T>A
4	g.41746218A>C	CA439143311	PHOX2B	c.534T>G (p.Ser178=) n.355T>G
4	g.41746218A>G	CA439143312	PHOX2B	c.534T>C (p.Ser178=) n.355T>C
4	g.41746218A>T	CA439143314	PHOX2B	c.534T>A (p.Ser178=) n.355T>A	dbSNP
4	g.41746219G>A	CA356738287	PHOX2B	c.533C>T (p.Ser178Phe) n.354C>T	ClinVar dbSNP
4	g.41746219G>C	CA356738289	PHOX2B	c.533C>G (p.Ser178Cys) n.354C>G
4	g.41746219G>T	CA356738298	PHOX2B	c.533C>A (p.Ser178Tyr) n.354C>A

Number of alleles fetched