Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
4	g.41746023_41746081del	CA2695199371	PHOX2B	c.671_729del (p.Pro224ArgfsTer?)	ClinVar
4	g.41746047_41746095del	CA2586973800	PHOX2B	c.663_711del (p.Gly222ArgfsTer?) n.484_532del
4	g.41746064_41746071dup	CA913189175	PHOX2B	c.691_698dup (p.Gly234AlafsTer?) n.512_519dup	ClinVar dbSNP
4	g.41746064_41746071del	CA2580616090	PHOX2B	c.691_698del (p.Gly231ArgfsTer?) n.512_519del	ClinVar dbSNP gnomAD v4
4	g.41746067_41746082dup	CA2586973808	PHOX2B	c.678_693dup (p.Pro232GlyfsTer?) n.499_514dup
4	g.41746067del	CA2670427168	PHOX2B	c.687del (p.Gly231AlafsTer?) n.508del	gnomAD v4
4	g.41746066G>A	CA356737396	PHOX2B	c.686C>T (p.Pro229Leu) n.507C>T	gnomAD v4
4	g.41746066G>C	CA356737395	PHOX2B	c.686C>G (p.Pro229Arg) n.507C>G
4	g.41746066G>T	CA356737393	PHOX2B	c.686C>A (p.Pro229His) n.507C>A	gnomAD v4
4	g.41746067G>A	CA356737398	PHOX2B	c.685C>T (p.Pro229Ser) n.506C>T	ClinVar gnomAD v4
4	g.41746067G>C	CA356737399	PHOX2B	c.685C>G (p.Pro229Ala) n.506C>G	gnomAD v4
4	g.41746067G>T	CA356737401	PHOX2B	c.685C>A (p.Pro229Thr) n.506C>A	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746068C>A	CA439142907	PHOX2B	c.684G>T (p.Gly228=) n.505G>T	gnomAD v4
4	g.41746068C>G	CA439142906	PHOX2B	c.684G>C (p.Gly228=) n.505G>C	gnomAD v4
4	g.41746068C>T	CA439142904	PHOX2B	c.684G>A (p.Gly228=) n.505G>A	gnomAD v4
4	g.41746071dup	CA2586973809	PHOX2B	c.684dup (p.Pro229AlafsTer?) n.505dup	ClinVar
4	g.41746071del	CA2670427169	PHOX2B	c.684del (p.Gly231AlafsTer?) n.505del	gnomAD v4
4	g.41746069C>A	CA356737403	PHOX2B	c.683G>T (p.Gly228Val) n.504G>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746069C>G	CA356737404	PHOX2B	c.683G>C (p.Gly228Ala) n.504G>C
4	g.41746069C>T	CA356737406	PHOX2B	c.683G>A (p.Gly228Glu) n.504G>A
4	g.41746078_41746109del	CA2580071010	PHOX2B	c.652_683del (p.Pro218AlafsTer?) n.473_504del	ClinVar gnomAD v4
4	g.41746070C>A	CA356737409	PHOX2B	c.682G>T (p.Gly228Trp) n.503G>T	gnomAD v4
4	g.41746070C>G	CA356737410	PHOX2B	c.682G>C (p.Gly228Arg) n.503G>C	ClinVar
4	g.41746070C>T	CA356737412	PHOX2B	c.682G>A (p.Gly228Arg) n.503G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746078_41746112del	CA2670427170	PHOX2B	c.648_682del (p.Gly217AlafsTer?) n.469_503del	gnomAD v4
4	g.41746078_41746115del	CA2670427171	PHOX2B	c.645_682del (p.Gly216AlafsTer?) n.466_503del	gnomAD v4
4	g.41746071C>A	CA439142911	PHOX2B	c.681G>T (p.Ala227=) n.502G>T	dbSNP gnomAD v4
4	g.41746071C>G	CA439142912	PHOX2B	c.681G>C (p.Ala227=) n.502G>C
4	g.41746071C>T	CA10582225	PHOX2B	c.681G>A (p.Ala227=) n.502G>A	ClinVar dbSNP gnomAD v4
4	g.41746072G>A	CA2901455	PHOX2B	c.680C>T (p.Ala227Val) n.501C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746072G>C	CA2901454	PHOX2B	c.680C>G (p.Ala227Gly) n.501C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746072G>T	CA2901453	PHOX2B	c.680C>A (p.Ala227Glu) n.501C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746072_41746073delinsAA	CA915943036	PHOX2B	c.679_680delinsTT (p.Ala227Leu) n.500_501delinsTT	ClinVar dbSNP
4	g.41746073C>A	CA2901456	PHOX2B	c.679G>T (p.Ala227Ser) n.500G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746073C>G	CA356737419	PHOX2B	c.679G>C (p.Ala227Pro) n.500G>C
4	g.41746073C>T	CA356737417	PHOX2B	c.679G>A (p.Ala227Thr) n.500G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746074C>A	CA439142919	PHOX2B	c.678G>T (p.Ala226=) n.499G>T	ClinVar dbSNP gnomAD v4
4	g.41746074C>G	CA439142918	PHOX2B	c.678G>C (p.Ala226=) n.499G>C	ClinVar dbSNP gnomAD v4
4	g.41746074C>T	CA439142917	PHOX2B	c.678G>A (p.Ala226=) n.499G>A	ClinVar gnomAD v4
4	g.41746075_41746076del	CA2670427172	PHOX2B	c.677_678del (p.Ala226GlyfsTer?) n.498_499del	gnomAD v4
4	g.41746075del	CA2670427173	PHOX2B	c.677del (p.Ala226GlyfsTer?) n.498del	gnomAD v4
4	g.41746075G>A	CA356737422	PHOX2B	c.677C>T (p.Ala226Val) n.498C>T	ClinVar dbSNP gnomAD v4 COSMIC
4	g.41746075G>C	CA356737425	PHOX2B	c.677C>G (p.Ala226Gly) n.498C>G	ClinVar gnomAD v4
4	g.41746075G>T	CA95828508	PHOX2B	c.677C>A (p.Ala226Glu) n.498C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746076C>A	CA356737426	PHOX2B	c.676G>T (p.Ala226Ser) n.497G>T	gnomAD v4
4	g.41746076C>G	CA356737427	PHOX2B	c.676G>C (p.Ala226Pro) n.497G>C	ClinVar dbSNP
4	g.41746076C>T	CA95828509	PHOX2B	c.676G>A (p.Ala226Thr) n.497G>A	ClinVar dbSNP gnomAD v4
4	g.41746080dup	CA2586973810	PHOX2B	c.676dup (p.Ala226GlyfsTer?) n.497dup	gnomAD v4
4	g.41746080del	CA2580071011	PHOX2B	c.676del (p.Ala226ArgfsTer?) n.497del	ClinVar gnomAD v4
4	g.41746077C>A	CA439142921	PHOX2B	c.675G>T (p.Gly225=) n.496G>T	ClinVar dbSNP gnomAD v4
4	g.41746077C>G	CA439142923	PHOX2B	c.675G>C (p.Gly225=) n.496G>C
4	g.41746077C>T	CA439142925	PHOX2B	c.675G>A (p.Gly225=) n.496G>A	ClinVar dbSNP gnomAD v4
4	g.41746078C>A	CA356737430	PHOX2B	c.674G>T (p.Gly225Val) n.495G>T	gnomAD v4
4	g.41746078C>G	CA356737432	PHOX2B	c.674G>C (p.Gly225Ala) n.495G>C
4	g.41746078C>T	CA356737434	PHOX2B	c.674G>A (p.Gly225Glu) n.495G>A	ClinVar
4	g.41746079C>A	CA356737436	PHOX2B	c.673G>T (p.Gly225Trp) n.494G>T	gnomAD v4
4	g.41746079C>G	CA356737438	PHOX2B	c.673G>C (p.Gly225Arg) n.494G>C	ClinVar
4	g.41746079C>T	CA95828512	PHOX2B	c.673G>A (p.Gly225Arg) n.494G>A	dbSNP gnomAD v4
4	g.41746081_41746115del	CA2901457	PHOX2B	c.639_673del (p.Gly217AlafsTer?) n.460_494del	dbSNP ExAC
4	g.41746081_41746118del	CA645526521	PHOX2B	c.636_673del (p.Gly216AlafsTer?) n.457_494del	COSMIC
4	g.41746080C>A	CA439142929	PHOX2B	c.672G>T (p.Pro224=) n.493G>T	ClinVar gnomAD v4
4	g.41746080C>G	CA439142930	PHOX2B	c.672G>C (p.Pro224=) n.493G>C	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746080C>T	CA439142931	PHOX2B	c.672G>A (p.Pro224=) n.493G>A	ClinVar dbSNP gnomAD v4
4	g.41746081G>A	CA356737444	PHOX2B	c.671C>T (p.Pro224Leu) n.492C>T	ClinVar dbSNP gnomAD v4
4	g.41746081G>C	CA356737443	PHOX2B	c.671C>G (p.Pro224Arg) n.492C>G	dbSNP
4	g.41746081G>T	CA356737441	PHOX2B	c.671C>A (p.Pro224Gln) n.492C>A	gnomAD v4 COSMIC
4	g.41746082_41746084del	CA2580071012	PHOX2B	c.669_671del (p.Pro224del) n.490_492del	ClinVar
4	g.41746082G>A	CA356737446	PHOX2B	c.670C>T (p.Pro224Ser) n.491C>T
4	g.41746082G>C	CA356737448	PHOX2B	c.670C>G (p.Pro224Ala) n.491C>G
4	g.41746082G>T	CA16611442	PHOX2B	c.670C>A (p.Pro224Thr) n.491C>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746083A>C	CA439142935	PHOX2B	c.669T>G (p.Ala223=) n.490T>G	ClinVar dbSNP
4	g.41746083A>G	CA439142936	PHOX2B	c.669T>C (p.Ala223=) n.490T>C	dbSNP gnomAD v4
4	g.41746083A>T	CA439142937	PHOX2B	c.669T>A (p.Ala223=) n.490T>A
4	g.41746083_41746103del	CA551141140	PHOX2B	c.649_669del (p.Gly217_Ala223del) n.470_490del	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746084G>A	CA356737450	PHOX2B	c.668C>T (p.Ala223Val) n.489C>T	gnomAD v4
4	g.41746084G>C	CA356737451	PHOX2B	c.668C>G (p.Ala223Gly) n.489C>G
4	g.41746084G>T	CA356737452	PHOX2B	c.668C>A (p.Ala223Asp) n.489C>A	gnomAD v4
4	g.41746085C>A	CA2901458	PHOX2B	c.667G>T (p.Ala223Ser) n.488G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4	g.41746085C>G	CA356737455	PHOX2B	c.667G>C (p.Ala223Pro) n.488G>C	COSMIC
4	g.41746085C>T	CA356737457	PHOX2B	c.667G>A (p.Ala223Thr) n.488G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746086_41746087del	CA2579987809	PHOX2B	c.666_667del (p.Ala223SerfsTer?) n.487_488del
4	g.41746086T>A	CA439142939	PHOX2B	c.666A>T (p.Gly222=) n.487A>T
4	g.41746086T>C	CA439142942	PHOX2B	c.666A>G (p.Gly222=) n.487A>G	gnomAD v4
4	g.41746086T>G	CA439142944	PHOX2B	c.666A>C (p.Gly222=) n.487A>C
4	g.41746087C>A	CA356737461	PHOX2B	c.665G>T (p.Gly222Val) n.486G>T
4	g.41746087C>G	CA2901459	PHOX2B	c.665G>C (p.Gly222Ala) n.486G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746087C>T	CA356737463	PHOX2B	c.665G>A (p.Gly222Glu) n.486G>A	COSMIC
4	g.41746088del	CA2670427174	PHOX2B	c.665del (p.Gly222GlufsTer?) n.486del	gnomAD v4
4	g.41746088C>A	CA356737467	PHOX2B	c.664G>T (p.Gly222Ter) n.485G>T
4	g.41746088C>G	CA356737466	PHOX2B	c.664G>C (p.Gly222Arg) n.485G>C
4	g.41746088C>T	CA356737465	PHOX2B	c.664G>A (p.Gly222Arg) n.485G>A	gnomAD v4 COSMIC
4	g.41746089A>C	CA439142948	PHOX2B	c.663T>G (p.Ala221=) n.484T>G	dbSNP
4	g.41746089A>G	CA439142949	PHOX2B	c.663T>C (p.Ala221=) n.484T>C	ClinVar gnomAD v4
4	g.41746089A>T	CA439142947	PHOX2B	c.663T>A (p.Ala221=) n.484T>A
4	g.41746089dup	CA2586973811	PHOX2B	c.663dup (p.Gly222TrpfsTer?) n.484dup
4	g.41746090G>A	CA2901460	PHOX2B	c.662C>T (p.Ala221Val) n.483C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746090G>C	CA356737468	PHOX2B	c.662C>G (p.Ala221Gly) n.483C>G
4	g.41746090G>T	CA356737469	PHOX2B	c.662C>A (p.Ala221Asp) n.483C>A	gnomAD v4
4	g.41746091C>A	CA356737470	PHOX2B	c.661G>T (p.Ala221Ser) n.482G>T	gnomAD v4
4	g.41746091C>G	CA356737471	PHOX2B	c.661G>C (p.Ala221Pro) n.482G>C	ClinVar dbSNP
4	g.41746091C>T	CA2901461	PHOX2B	c.661G>A (p.Ala221Thr) n.482G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746092C>A	CA439142954	PHOX2B	c.660G>T (p.Pro220=) n.481G>T	ClinVar gnomAD v4 COSMIC
4	g.41746092C>G	CA439142957	PHOX2B	c.660G>C (p.Pro220=) n.481G>C	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746092C>T	CA439142956	PHOX2B	c.660G>A (p.Pro220=) n.481G>A	ClinVar dbSNP gnomAD v4
4	g.41746093G>A	CA356737472	PHOX2B	c.659C>T (p.Pro220Leu) n.480C>T	ClinVar dbSNP gnomAD v4
4	g.41746093G>C	CA356737473	PHOX2B	c.659C>G (p.Pro220Arg) n.480C>G	ClinVar dbSNP gnomAD v4
4	g.41746093G>T	CA356737474	PHOX2B	c.659C>A (p.Pro220Gln) n.480C>A	ClinVar gnomAD v3 gnomAD v4
4	g.41746094G>A	CA356737475	PHOX2B	c.658C>T (p.Pro220Ser) n.479C>T	ClinVar dbSNP
4	g.41746094G>C	CA356737476	PHOX2B	c.658C>G (p.Pro220Ala) n.479C>G
4	g.41746094G>T	CA356737478	PHOX2B	c.658C>A (p.Pro220Thr) n.479C>A	ClinVar gnomAD v4
4	g.41746095G>A	CA439142961	PHOX2B	c.657C>T (p.Ser219=) n.478C>T	ClinVar gnomAD v4
4	g.41746095G>C	CA356737479	PHOX2B	c.657C>G (p.Ser219Arg) n.478C>G	ClinVar
4	g.41746095G>T	CA356737481	PHOX2B	c.657C>A (p.Ser219Arg) n.478C>A	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746096C>A	CA356737483	PHOX2B	c.656G>T (p.Ser219Ile) n.477G>T	gnomAD v4
4	g.41746096C>G	CA356737487	PHOX2B	c.656G>C (p.Ser219Thr) n.477G>C
4	g.41746096C>T	CA356737485	PHOX2B	c.656G>A (p.Ser219Asn) n.477G>A	ClinVar dbSNP gnomAD v4
4	g.41746097T>A	CA356737488	PHOX2B	c.655A>T (p.Ser219Cys) n.476A>T	dbSNP
4	g.41746097T>C	CA356737489	PHOX2B	c.655A>G (p.Ser219Gly) n.476A>G	ClinVar dbSNP gnomAD v4
4	g.41746097T>G	CA356737490	PHOX2B	c.655A>C (p.Ser219Arg) n.476A>C
4	g.41746098G>A	CA439142967	PHOX2B	c.654C>T (p.Pro218=) n.475C>T	ClinVar dbSNP gnomAD v4
4	g.41746098G>C	CA439142968	PHOX2B	c.654C>G (p.Pro218=) n.475C>G
4	g.41746098G>T	CA2901462	PHOX2B	c.654C>A (p.Pro218=) n.475C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746100del	CA2670427175	PHOX2B	c.654del (p.Ser219AlafsTer?) n.475del	gnomAD v4
4	g.41746099G>A	CA356737493	PHOX2B	c.653C>T (p.Pro218Leu) n.474C>T	gnomAD v4 COSMIC
4	g.41746099G>C	CA356737494	PHOX2B	c.653C>G (p.Pro218Arg) n.474C>G	ClinVar dbSNP
4	g.41746099G>T	CA356737496	PHOX2B	c.653C>A (p.Pro218His) n.474C>A
4	g.41746100G>A	CA356737497	PHOX2B	c.652C>T (p.Pro218Ser) n.473C>T	ClinVar gnomAD v4
4	g.41746100G>C	CA356737499	PHOX2B	c.652C>G (p.Pro218Ala) n.473C>G
4	g.41746100G>T	CA356737500	PHOX2B	c.652C>A (p.Pro218Thr) n.473C>A	gnomAD v4
4	g.41746101C>A	CA2901464	PHOX2B	c.651G>T (p.Gly217=) n.472G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746101C>G	CA439142976	PHOX2B	c.651G>C (p.Gly217=) n.472G>C
4	g.41746101C>T	CA439142977	PHOX2B	c.651G>A (p.Gly217=) n.472G>A	gnomAD v4
4	g.41746102C>A	CA356737509	PHOX2B	c.650G>T (p.Gly217Val) n.471G>T	gnomAD v4
4	g.41746102C>G	CA356737506	PHOX2B	c.650G>C (p.Gly217Ala) n.471G>C
4	g.41746102C>T	CA356737504	PHOX2B	c.650G>A (p.Gly217Glu) n.471G>A	ClinVar gnomAD v4
4	g.41746113_41746115dup	CA551141141	PHOX2B	c.648_650dup (p.Gly217_Pro218insGly) n.469_471dup	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746113_41746115del	CA2901463	PHOX2B	c.648_650del (p.Gly217del) n.469_471del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746103C>A	CA356737510	PHOX2B	c.649G>T (p.Gly217Trp) n.470G>T	ClinVar gnomAD v4
4	g.41746103C>G	CA356737512	PHOX2B	c.649G>C (p.Gly217Arg) n.470G>C	ClinVar dbSNP
4	g.41746103C>T	CA2901465	PHOX2B	c.649G>A (p.Gly217Arg) n.470G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746104G>A	CA439142984	PHOX2B	c.648C>T (p.Gly216=) n.469C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746104G>C	CA95828534	PHOX2B	c.648C>G (p.Gly216=) n.469C>G	dbSNP gnomAD v2 gnomAD v4
4	g.41746104G>T	CA439142985	PHOX2B	c.648C>A (p.Gly216=) n.469C>A	ClinVar dbSNP gnomAD v4
4	g.41746105C>A	CA356737515	PHOX2B	c.647G>T (p.Gly216Val) n.468G>T	gnomAD v4
4	g.41746105C>G	CA356737517	PHOX2B	c.647G>C (p.Gly216Ala) n.468G>C
4	g.41746105C>T	CA356737520	PHOX2B	c.647G>A (p.Gly216Asp) n.468G>A	gnomAD v4
4	g.41746106C>A	CA356737522	PHOX2B	c.646G>T (p.Gly216Cys) n.467G>T	ClinVar gnomAD v4
4	g.41746106C>G	CA356737525	PHOX2B	c.646G>C (p.Gly216Arg) n.467G>C
4	g.41746106C>T	CA356737528	PHOX2B	c.646G>A (p.Gly216Ser) n.467G>A	ClinVar dbSNP gnomAD v4
4	g.41746107_41746108del	CA2586973812	PHOX2B	c.645_646del (p.Gly216ArgfsTer?) n.466_467del
4	g.41746107G>A	CA439142989	PHOX2B	c.645C>T (p.Gly215=) n.466C>T	ClinVar dbSNP gnomAD v4 COSMIC
4	g.41746107G>C	CA439142990	PHOX2B	c.645C>G (p.Gly215=) n.466C>G
4	g.41746107G>T	CA439142991	PHOX2B	c.645C>A (p.Gly215=) n.466C>A	ClinVar
4	g.41746108C>A	CA356737529	PHOX2B	c.644G>T (p.Gly215Val) n.465G>T	gnomAD v4
4	g.41746108C>G	CA356737532	PHOX2B	c.644G>C (p.Gly215Ala) n.465G>C
4	g.41746108C>T	CA356737531	PHOX2B	c.644G>A (p.Gly215Asp) n.465G>A	ClinVar dbSNP gnomAD v4
4	g.41746109C>A	CA356737533	PHOX2B	c.643G>T (p.Gly215Cys) n.464G>T	dbSNP gnomAD v3 gnomAD v4
4	g.41746109C>G	CA356737534	PHOX2B	c.643G>C (p.Gly215Arg) n.464G>C	ClinVar gnomAD v4
4	g.41746109C>T	CA356737535	PHOX2B	c.643G>A (p.Gly215Ser) n.464G>A
4	g.41746110G>A	CA2901466	PHOX2B	c.642C>T (p.Gly214=) n.463C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4	g.41746110G>C	CA439142993	PHOX2B	c.642C>G (p.Gly214=) n.463C>G
4	g.41746110G>T	CA439142992	PHOX2B	c.642C>A (p.Gly214=) n.463C>A	ClinVar gnomAD v4
4	g.41746110_41746111delinsTT	CA2497074310	PHOX2B	c.641_642delinsAA (p.Gly214Glu) n.462_463delinsAA	ClinVar dbSNP
4	g.41746111C>A	CA356737543	PHOX2B	c.641G>T (p.Gly214Val) n.462G>T	ClinVar gnomAD v4
4	g.41746111C>G	CA356737539	PHOX2B	c.641G>C (p.Gly214Ala) n.462G>C	ClinVar dbSNP
4	g.41746111C>T	CA356737542	PHOX2B	c.641G>A (p.Gly214Asp) n.462G>A	gnomAD v4
4	g.41746113_41746118dup	CA658657381	PHOX2B	c.636_641dup (p.Gly214_Gly215insGlyGly) n.457_462dup	ClinVar dbSNP gnomAD v4
4	g.41746112C>A	CA356737546	PHOX2B	c.640G>T (p.Gly214Cys) n.461G>T	ClinVar dbSNP
4	g.41746112C>G	CA356737549	PHOX2B	c.640G>C (p.Gly214Arg) n.461G>C
4	g.41746112C>T	CA2901467	PHOX2B	c.640G>A (p.Gly214Ser) n.461G>A	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746113G>A	CA2901471	PHOX2B	c.639C>T (p.Gly213=) n.460C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746113G>C	CA2901468	PHOX2B	c.639C>G (p.Gly213=) n.460C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746113G>T	CA2901469	PHOX2B	c.639C>A (p.Gly213=) n.460C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746114C>A	CA356737559	PHOX2B	c.638G>T (p.Gly213Val) n.459G>T	ClinVar dbSNP
4	g.41746114C>G	CA356737562	PHOX2B	c.638G>C (p.Gly213Ala) n.459G>C
4	g.41746114C>T	CA356737564	PHOX2B	c.638G>A (p.Gly213Asp) n.459G>A	ClinVar dbSNP
4	g.41746116_41746118dup	CA2901470	PHOX2B	c.636_638dup (p.Gly213_Gly214insGly) n.457_459dup	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746115C>A	CA356737567	PHOX2B	c.637G>T (p.Gly213Cys) n.458G>T
4	g.41746115C>G	CA356737570	PHOX2B	c.637G>C (p.Gly213Arg) n.458G>C
4	g.41746115C>T	CA2901472	PHOX2B	c.637G>A (p.Gly213Ser) n.458G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746116T>A	CA439143001	PHOX2B	c.636A>T (p.Gly212=) n.457A>T	gnomAD v4
4	g.41746116T>C	CA439143003	PHOX2B	c.636A>G (p.Gly212=) n.457A>G	ClinVar gnomAD v4
4	g.41746116T>G	CA439143002	PHOX2B	c.636A>C (p.Gly212=) n.457A>C
4	g.41746117C>A	CA356737579	PHOX2B	c.635G>T (p.Gly212Val) n.456G>T	gnomAD v4
4	g.41746117C>G	CA356737574	PHOX2B	c.635G>C (p.Gly212Ala) n.456G>C	ClinVar dbSNP
4	g.41746117C>T	CA356737577	PHOX2B	c.635G>A (p.Gly212Glu) n.456G>A	gnomAD v4
4	g.41746118C>A	CA356737583	PHOX2B	c.634G>T (p.Gly212Ter) n.455G>T
4	g.41746118C>G	CA356737584	PHOX2B	c.634G>C (p.Gly212Arg) n.455G>C
4	g.41746118C>T	CA356737587	PHOX2B	c.634G>A (p.Gly212Arg) n.455G>A
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

Number of alleles fetched