Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
4	g.41745947_41746015del	CA2580070995	PHOX2B	c.738_806del (p.Ala247_Pro269del)	ClinVar gnomAD v4
4	g.41745958_41745963del	CA2670427135	PHOX2B	c.794_799del (p.Ala265_Ala266del)	gnomAD v4
4	g.41745956C>A	CA356737122	PHOX2B	c.796G>T (p.Ala266Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4	g.41745956C>G	CA356737124	PHOX2B	c.796G>C (p.Ala266Pro)
4	g.41745956C>T	CA356737123	PHOX2B	c.796G>A (p.Ala266Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
4	g.41745957C>A	CA439142962	PHOX2B	c.795G>T (p.Ala265=)	ClinVar dbSNP gnomAD v4
4	g.41745957C>G	CA439142963	PHOX2B	c.795G>C (p.Ala265=)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41745957C>T	CA439142964	PHOX2B	c.795G>A (p.Ala265=)	ClinVar dbSNP gnomAD v4
4	g.41745958G>A	CA356737125	PHOX2B	c.794C>T (p.Ala265Val)	ClinVar dbSNP gnomAD v4
4	g.41745958G>C	CA356737126	PHOX2B	c.794C>G (p.Ala265Gly)	ClinVar
4	g.41745958G>T	CA356737127	PHOX2B	c.794C>A (p.Ala265Glu)	gnomAD v4
4	g.41745959C>A	CA356737128	PHOX2B	c.793G>T (p.Ala265Ser)	gnomAD v4
4	g.41745959C>G	CA356737129	PHOX2B	c.793G>C (p.Ala265Pro)	gnomAD v4
4	g.41745959C>T	CA95828397	PHOX2B	c.793G>A (p.Ala265Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745960A>C	CA439142965	PHOX2B	c.792T>G (p.Ala264=)
4	g.41745960A>G	CA2901418	PHOX2B	c.792T>C (p.Ala264=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41745960A>T	CA439142966	PHOX2B	c.792T>A (p.Ala264=)
4	g.41745961G>A	CA356737130	PHOX2B	c.791C>T (p.Ala264Val)	gnomAD v4
4	g.41745961G>C	CA2901419	PHOX2B	c.791C>G (p.Ala264Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41745961G>T	CA356737131	PHOX2B	c.791C>A (p.Ala264Asp)	ClinVar gnomAD v4
4	g.41745962C>A	CA356737133	PHOX2B	c.790G>T (p.Ala264Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41745962C>G	CA356737134	PHOX2B	c.790G>C (p.Ala264Pro)
4	g.41745962C>T	CA356737132	PHOX2B	c.790G>A (p.Ala264Thr)	ClinVar dbSNP gnomAD v4
4	g.41745963C>A	CA439142969	PHOX2B	c.789G>T (p.Leu263=)	gnomAD v4
4	g.41745963C>G	CA439142970	PHOX2B	c.789G>C (p.Leu263=)	ClinVar
4	g.41745963C>T	CA439142971	PHOX2B	c.789G>A (p.Leu263=)	ClinVar dbSNP gnomAD v4
4	g.41745964A>C	CA356737135	PHOX2B	c.788T>G (p.Leu263Arg)	ClinVar
4	g.41745964A>G	CA356737136	PHOX2B	c.788T>C (p.Leu263Pro)	ClinVar dbSNP gnomAD v4
4	g.41745964A>T	CA356737137	PHOX2B	c.788T>A (p.Leu263Gln)
4	g.41745965G>A	CA439142972	PHOX2B	c.787C>T (p.Leu263=)	ClinVar dbSNP gnomAD v4
4	g.41745965G>C	CA2901420	PHOX2B	c.787C>G (p.Leu263Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41745965G>T	CA356737138	PHOX2B	c.787C>A (p.Leu263Met)	gnomAD v4
4	g.41745966G>A	CA439142975	PHOX2B	c.786C>T (p.Gly262=)	gnomAD v4
4	g.41745966G>C	CA439142974	PHOX2B	c.786C>G (p.Gly262=)
4	g.41745966G>T	CA439142973	PHOX2B	c.786C>A (p.Gly262=)	gnomAD v4
4	g.41745967C>A	CA2901421	PHOX2B	c.785G>T (p.Gly262Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745967C>G	CA356737139	PHOX2B	c.785G>C (p.Gly262Ala)
4	g.41745967C>T	CA356737140	PHOX2B	c.785G>A (p.Gly262Asp)	ClinVar dbSNP gnomAD v4
4	g.41745968C>A	CA356737141	PHOX2B	c.784G>T (p.Gly262Cys)	gnomAD v4
4	g.41745968C>G	CA356737142	PHOX2B	c.784G>C (p.Gly262Arg)
4	g.41745968C>T	CA356737143	PHOX2B	c.784G>A (p.Gly262Ser)	gnomAD v4
4	g.41745969T>A	CA439142978	PHOX2B	c.783A>T (p.Gly261=)
4	g.41745969T>C	CA439142979	PHOX2B	c.783A>G (p.Gly261=)	dbSNP gnomAD v4
4	g.41745969T>G	CA439142980	PHOX2B	c.783A>C (p.Gly261=)
4	g.41745970C>A	CA356737146	PHOX2B	c.782G>T (p.Gly261Val)
4	g.41745970C>G	CA356737145	PHOX2B	c.782G>C (p.Gly261Ala)	ClinVar
4	g.41745970C>T	CA356737144	PHOX2B	c.782G>A (p.Gly261Glu)	ClinVar dbSNP gnomAD v4
4	g.41745971del	CA2670427136	PHOX2B	c.782del (p.Gly261GlufsTer?)	gnomAD v4
4	g.41745971C>A	CA356737147	PHOX2B	c.781G>T (p.Gly261Ter)	gnomAD v4
4	g.41745971C>G	CA356737148	PHOX2B	c.781G>C (p.Gly261Arg)
4	g.41745971C>T	CA356737149	PHOX2B	c.781G>A (p.Gly261Arg)	gnomAD v4
4	g.41745972_41745980dup	CA2670427137	PHOX2B	c.773_781dup (p.Ala260_Gly261insAlaAlaAla)	gnomAD v4
4	g.41745972_41745986dup	CA2586973794	PHOX2B	c.767_781dup (p.Ala260_Gly261insAlaAlaAlaAlaAla)
4	g.41745972del	CA2761184237	PHOX2B	c.780del (p.Gly261GlufsTer?)
4	g.41745972A>C	CA439142981	PHOX2B	c.780T>G (p.Ala260=)	gnomAD v4
4	g.41745972A>G	CA439142982	PHOX2B	c.780T>C (p.Ala260=)	gnomAD v3 gnomAD v4
4	g.41745972A>T	CA439142983	PHOX2B	c.780T>A (p.Ala260=)
4	g.41745972dup	CA2586973795	PHOX2B	c.780dup (p.Gly261TrpfsTer?)
4	g.41745973G>A	CA16611539	PHOX2B	c.779C>T (p.Ala260Val)	ClinVar dbSNP gnomAD v4
4	g.41745973G>C	CA356737150	PHOX2B	c.779C>G (p.Ala260Gly)	gnomAD v3 gnomAD v4
4	g.41745973G>T	CA356737151	PHOX2B	c.779C>A (p.Ala260Asp)	gnomAD v4
4	g.41745983_41745984insCGCCGCTGCCGCCGC	CA1139658464	PHOX2B	c.779_780insGGCGGCGGCGGCAGC (p.Ala260_Gly261insAlaAlaAlaAlaAla)	ClinVar dbSNP
4	g.41745981_41745989dup	CA2670427138	PHOX2B	c.771_779dup (p.Ala260_Gly261insAlaAlaAla)	gnomAD v4
4	g.41745981_41745989del	CA2901423	PHOX2B	c.771_779del (p.Ala258_Ala260del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41745975_41745995del	CA2670427139	PHOX2B	c.759_779del (p.Ala254_Ala260del)	gnomAD v4
4	g.41745984_41745998dup	CA645369340	PHOX2B	c.765_779dup (p.Ala260_Gly261insAlaAlaAlaAlaAla)	ClinVar dbSNP gnomAD v4
4	g.41745984_41745998del	CA2901422	PHOX2B	c.765_779del (p.Ala256_Ala260del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745981_41746010dup	CA2573052328	PHOX2B	c.750_779dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	ClinVar dbSNP
4	g.41745981_41746010del	CA551141161	PHOX2B	c.750_779del (p.Ala251_Ala260del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745973_41745974insGCTGCCGCCGCTGCCGCTGCCGCCGCCGCC	CA2580070996	PHOX2B	c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC (p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro)	ClinVar
4	g.41745974C>A	CA356737152	PHOX2B	c.778G>T (p.Ala260Ser)	gnomAD v4
4	g.41745974C>G	CA356737153	PHOX2B	c.778G>C (p.Ala260Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745974C>T	CA356737154	PHOX2B	c.778G>A (p.Ala260Thr)	ClinVar dbSNP gnomAD v4
4	g.41745974_41745978del	CA2761184242	PHOX2B	c.774_778del (p.Ala259TrpfsTer?)
4	g.41745975T>A	CA439142986	PHOX2B	c.777A>T (p.Ala259=)	ClinVar
4	g.41745975T>C	CA439142987	PHOX2B	c.777A>G (p.Ala259=)	ClinVar gnomAD v4
4	g.41745975T>G	CA439142988	PHOX2B	c.777A>C (p.Ala259=)	ClinVar gnomAD v4
4	g.41745976G>A	CA356737157	PHOX2B	c.776C>T (p.Ala259Val)	gnomAD v4
4	g.41745976G>C	CA356737155	PHOX2B	c.776C>G (p.Ala259Gly)	ClinVar gnomAD v4
4	g.41745976G>T	CA356737156	PHOX2B	c.776C>A (p.Ala259Glu)	gnomAD v4
4	g.41745978_41745979insTCCGCTGCCGCTGCCGCCGCC	CA2580070997	PHOX2B	c.776_777insGGCGGCAGCGGCAGCGGAGGC (p.Ala259_Ala260insAlaAlaAlaAlaAlaGluAla)	ClinVar
4	g.41745981_41745983dup	CA551141163	PHOX2B	c.774_776dup (p.Ala259_Ala260insAla)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745981_41745983del	CA2670427141	PHOX2B	c.774_776del (p.Ala259del)	gnomAD v4
4	g.41745978_41745983del	CA2761184246	PHOX2B	c.771_776del (p.Ala258_Ala259del)
4	g.41745989_41745990insGGCCGCCGCCGCCGCTGCCGC	CA2580616089	PHOX2B	c.776_777insGGCGGCCGCGGCAGCGGCGGC (p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla)
4	g.41745984_41746001del	CA2578074972	PHOX2B	c.759_776del (p.Ala254_Ala259del)
4	g.41745990_41746010dup	CA658657380	PHOX2B	c.756_776dup (p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla)	ClinVar dbSNP gnomAD v4
4	g.41745990_41746010del	CA2901424	PHOX2B	c.756_776del (p.Ala253_Ala259del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745984_41746019del	CA551141162	PHOX2B	c.741_776del (p.Ala248_Ala259del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745981_41746022del	CA2670427140	PHOX2B	c.735_776del (p.Ala246_Ala259del)	gnomAD v4
4	g.41745987_41746025dup	CA95828409	PHOX2B	c.738_776dup (p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	ClinVar dbSNP
4	g.41745987_41746025del	CA2901425	PHOX2B	c.738_776del (p.Ala247_Ala259del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745976_41745977insGCCGCCGCTGCCGCTGCCGCC	CA2580070998	PHOX2B	c.775_776insGGCGGCAGCGGCAGCGGCGGC (p.Ala259delinsGlyArgGlnArgGlnArgArgPro)	ClinVar
4	g.41745977C>A	CA356737158	PHOX2B	c.775G>T (p.Ala259Ser)	gnomAD v4
4	g.41745977C>G	CA356737159	PHOX2B	c.775G>C (p.Ala259Pro)
4	g.41745977C>T	CA2901426	PHOX2B	c.775G>A (p.Ala259Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41745978C>A	CA439142995	PHOX2B	c.774G>T (p.Ala258=)	ClinVar
4	g.41745978C>G	CA439142994	PHOX2B	c.774G>C (p.Ala258=)	dbSNP gnomAD v4
4	g.41745978C>T	CA439142996	PHOX2B	c.774G>A (p.Ala258=)	ClinVar dbSNP gnomAD v4
4	g.41745979_41745983del	CA2670427142	PHOX2B	c.770_774del (p.Ala257GlyfsTer?)	gnomAD v4
4	g.41745979G>A	CA356737160	PHOX2B	c.773C>T (p.Ala258Val)	gnomAD v4
4	g.41745979G>C	CA356737161	PHOX2B	c.773C>G (p.Ala258Gly)
4	g.41745979G>T	CA2901428	PHOX2B	c.773C>A (p.Ala258Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745990_41745995dup	CA551141164	PHOX2B	c.768_773dup (p.Ala258_Ala259insAlaAla)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745990_41745995del	CA1061554524	PHOX2B	c.768_773del (p.Ala257_Ala258del)	dbSNP gnomAD v3 gnomAD v4
4	g.41745984_41746010dup	CA2582342653	PHOX2B	c.747_773dup (p.Ala258_Ala259insAlaAlaAlaAlaAlaAlaAlaAlaAla)	ClinVar
4	g.41745984_41746010del	CA2901427	PHOX2B	c.747_773del (p.Ala250_Ala258del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745984_41746016del	CA794914227	PHOX2B	c.741_773del (p.Ala248_Ala258del)	dbSNP gnomAD v4
4	g.41745980C>A	CA356737162	PHOX2B	c.772G>T (p.Ala258Ser)	gnomAD v4
4	g.41745980C>G	CA356737163	PHOX2B	c.772G>C (p.Ala258Pro)
4	g.41745980C>T	CA2901429	PHOX2B	c.772G>A (p.Ala258Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41745981C>A	CA2901431	PHOX2B	c.771G>T (p.Ala257=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41745981C>G	CA439142997	PHOX2B	c.771G>C (p.Ala257=)	ClinVar dbSNP gnomAD v4
4	g.41745981C>T	CA439142998	PHOX2B	c.771G>A (p.Ala257=)	gnomAD v4
4	g.41745982G>A	CA356737165	PHOX2B	c.770C>T (p.Ala257Val)	ClinVar dbSNP gnomAD v4
4	g.41745982G>C	CA356737166	PHOX2B	c.770C>G (p.Ala257Gly)
4	g.41745982G>T	CA356737164	PHOX2B	c.770C>A (p.Ala257Glu)	gnomAD v4
4	g.41745984_41745992del	CA2901430	PHOX2B	c.762_770del (p.Ala255_Ala257del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745987_41746028del	CA2670427143	PHOX2B	c.729_770del (p.Ala244_Ala257del)	gnomAD v4
4	g.41745983C>A	CA356737167	PHOX2B	c.769G>T (p.Ala257Ser)
4	g.41745983C>G	CA356737168	PHOX2B	c.769G>C (p.Ala257Pro)
4	g.41745983C>T	CA356737169	PHOX2B	c.769G>A (p.Ala257Thr)	gnomAD v4
4	g.41745984T>A	CA439142999	PHOX2B	c.768A>T (p.Ala256=)
4	g.41745984T>C	CA2901432	PHOX2B	c.768A>G (p.Ala256=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745984T>G	CA439143000	PHOX2B	c.768A>C (p.Ala256=)	ClinVar dbSNP gnomAD v4
4	g.41745985G>A	CA356737172	PHOX2B	c.767C>T (p.Ala256Val)	gnomAD v4
4	g.41745985G>C	CA356737171	PHOX2B	c.767C>G (p.Ala256Gly)
4	g.41745985G>T	CA356737170	PHOX2B	c.767C>A (p.Ala256Glu)	gnomAD v4
4	g.41745989_41745990insCGCCGCCGC	CA2670427144	PHOX2B	c.767_768insGGCGGCGGC (p.Ala256_Ala257insAlaAlaAla)	gnomAD v4
4	g.41745989_41745990insGGCCGCCGCCGCCGC	CA2504605725	PHOX2B	c.767_768insGGCGGCGGCCGCGGC (p.Ala256_Ala257insAlaAlaAlaAlaAla)
4	g.41745987_41745989dup	CA794914303	PHOX2B	c.765_767dup (p.Ala256_Ala257insAla)	dbSNP gnomAD v3 gnomAD v4
4	g.41745991_41745992insACGCCGCCGCCGCTG	CA2573137670	PHOX2B	c.767_768insGGCGGCGTCAGCGGC (p.Ala256_Ala257insAlaAlaSerAlaAla)	ClinVar dbSNP gnomAD v4
4	g.41745990_41745998del	CA1139532266	PHOX2B	c.759_767del (p.Ala254_Ala256del)
4	g.41745996_41746010dup	CA501224	PHOX2B	c.753_767dup (p.Ala256_Ala257insAlaAlaAlaAlaAla)	ClinVar dbSNP
4	g.41745996_41746010del	CA2901434	PHOX2B	c.753_767del (p.Ala252_Ala256del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745990_41746016del	CA551141165	PHOX2B	c.741_767del (p.Ala248_Ala256del)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41745990_41746019dup	CA2580071000	PHOX2B	c.738_767dup (p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	ClinVar
4	g.41745993_41746025dup	CA2580070999	PHOX2B	c.735_767dup (p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	ClinVar
4	g.41745993_41746025del	CA2901433	PHOX2B	c.735_767del (p.Ala246_Ala256del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745986C>A	CA356737173	PHOX2B	c.766G>T (p.Ala256Ser)	gnomAD v4
4	g.41745986C>G	CA356737174	PHOX2B	c.766G>C (p.Ala256Pro)	gnomAD v4
4	g.41745986C>T	CA2901435	PHOX2B	c.766G>A (p.Ala256Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41745987C>A	CA439143004	PHOX2B	c.765G>T (p.Ala255=)	gnomAD v4
4	g.41745987C>G	CA439143005	PHOX2B	c.765G>C (p.Ala255=)	ClinVar
4	g.41745987C>T	CA95828436	PHOX2B	c.765G>A (p.Ala255=)	dbSNP gnomAD v2 gnomAD v4
4	g.41745989_41746011del	CA2670427145	PHOX2B	c.743_765del (p.Ala248GlyfsTer?)	gnomAD v4
4	g.41745988G>A	CA356737177	PHOX2B	c.764C>T (p.Ala255Val)	gnomAD v4
4	g.41745988G>C	CA356737175	PHOX2B	c.764C>G (p.Ala255Gly)
4	g.41745988G>T	CA356737176	PHOX2B	c.764C>A (p.Ala255Glu)	ClinVar gnomAD v4 COSMIC
4	g.41745990_41745992del	CA2670427146	PHOX2B	c.762_764del (p.Ala255del)	gnomAD v4
4	g.41745990_41746007del	CA2901436	PHOX2B	c.747_764del (p.Ala250_Ala255del)	dbSNP ExAC
4	g.41745990_41746013del	CA2695239079	PHOX2B	c.741_764del (p.Ala248_Ala255del)
4	g.41745993_41746028dup	CA2580071002	PHOX2B	c.729_764dup (p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	ClinVar
4	g.41745993_41746028del	CA2497074302	PHOX2B	c.729_764del (p.Ala244_Ala255del)	ClinVar dbSNP gnomAD v4
4	g.41745993_41746031dup	CA2580071003	PHOX2B	c.726_764dup (p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	ClinVar
4	g.41745993_41746031del	CA2901437	PHOX2B	c.726_764del (p.Ala243_Ala255del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745989C>A	CA356737178	PHOX2B	c.763G>T (p.Ala255Ser)	gnomAD v4
4	g.41745989C>G	CA356737179	PHOX2B	c.763G>C (p.Ala255Pro)
4	g.41745989C>T	CA356737180	PHOX2B	c.763G>A (p.Ala255Thr)
4	g.41745990del	CA2578074973	PHOX2B	c.762del (p.Ala255ArgfsTer?)	gnomAD v4
4	g.41745990T>A	CA439143011	PHOX2B	c.762A>T (p.Ala254=)	gnomAD v4
4	g.41745990T>C	CA439143007	PHOX2B	c.762A>G (p.Ala254=)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41745990T>G	CA177628	PHOX2B	c.762A>C (p.Ala254=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745990T=	CA2573049304	PHOX2B	c.762A= (p.Ala254=)
4	g.41745991G>A	CA356737183	PHOX2B	c.761C>T (p.Ala254Val)	ClinVar gnomAD v4
4	g.41745991G>C	CA356737182	PHOX2B	c.761C>G (p.Ala254Gly)	gnomAD v4
4	g.41745991G>T	CA356737181	PHOX2B	c.761C>A (p.Ala254Glu)	gnomAD v4
4	g.41745998_41745999insTGCCGCGGCCGCCGC	CA2561460287	PHOX2B	c.761_762insCGCGGCAGCGGCGGC (p.Ala254_Ala255insAlaAlaAlaAlaAla)
4	g.41746002_41746004dup	CA95828446	PHOX2B	c.759_761dup (p.Ala254_Ala255insAla)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41745999_41746004dup	CA794914330	PHOX2B	c.756_761dup (p.Ala254_Ala255insAlaAla)	dbSNP gnomAD v3 gnomAD v4
4	g.41745996_41746004dup	CA1061554580	PHOX2B	c.753_761dup (p.Ala254_Ala255insAlaAlaAla)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746002_41746004del	CA551141167	PHOX2B	c.759_761del (p.Ala254del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745999_41746004del	CA551141166	PHOX2B	c.756_761del (p.Ala253_Ala254del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745996_41746004del	CA2670427147	PHOX2B	c.753_761del (p.Ala252_Ala254del)	gnomAD v4
4	g.41746002_41746022dup	CA2580071004	PHOX2B	c.741_761dup (p.Ala254_Ala255insAlaAlaAlaAlaAlaAlaAla)	ClinVar
4	g.41746002_41746022del	CA2901438	PHOX2B	c.741_761del (p.Ala248_Ala254del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745999_41746022del	CA2497074303	PHOX2B	c.738_761del (p.Ala247_Ala254del)	dbSNP gnomAD v4
4	g.41745996_41746022del	CA2901439	PHOX2B	c.735_761del (p.Ala246_Ala254del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745992C>A	CA356737184	PHOX2B	c.760G>T (p.Ala254Ser)	gnomAD v4
4	g.41745992C>G	CA356737185	PHOX2B	c.760G>C (p.Ala254Pro)
4	g.41745992C>T	CA2901440	PHOX2B	c.760G>A (p.Ala254Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745992_41745993del	CA2670427148	PHOX2B	c.759_760del (p.Ala254SerfsTer?)	gnomAD v4
4	g.41745993del	CA551141168	PHOX2B	c.760del (p.Ala254GlnfsTer?)	dbSNP gnomAD v2 gnomAD v4
4	g.41745993C>A	CA439143024	PHOX2B	c.759G>T (p.Ala253=)	gnomAD v4
4	g.41745993C>G	CA439143020	PHOX2B	c.759G>C (p.Ala253=)	ClinVar gnomAD v2 gnomAD v4
4	g.41745993C>T	CA95828452	PHOX2B	c.759G>A (p.Ala253=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746000_41746037dup	CA2580071005	PHOX2B	c.722_759dup (p.Ala254GlnfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746000_41746037del	CA1139658465	PHOX2B	c.722_759del (p.Ala241GlyfsTer?)	ClinVar dbSNP
4	g.41745994G>A	CA356737186	PHOX2B	c.758C>T (p.Ala253Val)	gnomAD v4
4	g.41745994G>C	CA356737187	PHOX2B	c.758C>G (p.Ala253Gly)
4	g.41745994G>T	CA356737188	PHOX2B	c.758C>A (p.Ala253Glu)	gnomAD v4
4	g.41745995_41745996insGGC	CA1061554608	PHOX2B	c.758_759insCGC (p.Ala253_Ala254insAla)	dbSNP gnomAD v3 gnomAD v4
4	g.41745995_41745996insTGC	CA2670427149	PHOX2B	c.758_759insAGC (p.Ala253_Ala254insAla)	gnomAD v4
4	g.41745998_41745999insGGCCGC	CA2578074974	PHOX2B	c.758_759insCGCGGC (p.Ala253_Ala254insAlaAla)	gnomAD v4
4	g.41745999_41746010del	CA2670427150	PHOX2B	c.747_758del (p.Ala250_Ala253del)	gnomAD v4
4	g.41746008_41746025dup	CA1139658466	PHOX2B	c.741_758dup (p.Ala253_Ala254insAlaAlaAlaAlaAlaAla)	ClinVar dbSNP
4	g.41746008_41746025del	CA2901441	PHOX2B	c.741_758del (p.Ala248_Ala253del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745995C>A	CA356737189	PHOX2B	c.757G>T (p.Ala253Ser)	gnomAD v4
4	g.41745995C>G	CA356737191	PHOX2B	c.757G>C (p.Ala253Pro)
4	g.41745995C>T	CA356737190	PHOX2B	c.757G>A (p.Ala253Thr)	gnomAD v4
4	g.41745995_41745996insTG	CA551141169	PHOX2B	c.756_757insCA (p.Ala253GlnfsTer?)	dbSNP gnomAD v2
4	g.41745996C>A	CA439143030	PHOX2B	c.756G>T (p.Ala252=)	dbSNP gnomAD v4
4	g.41745996C>G	CA439143029	PHOX2B	c.756G>C (p.Ala252=)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41745996C>T	CA2901442	PHOX2B	c.756G>A (p.Ala252=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746003_41746037del	CA645526518	PHOX2B	c.722_756del (p.Ala241GlyfsTer?)	COSMIC
4	g.41745997G>A	CA356737192	PHOX2B	c.755C>T (p.Ala252Val)	dbSNP gnomAD v3 gnomAD v4
4	g.41745997G>C	CA356737193	PHOX2B	c.755C>G (p.Ala252Gly)	dbSNP gnomAD v4
4	g.41745997G>T	CA356737194	PHOX2B	c.755C>A (p.Ala252Glu)	gnomAD v4
4	g.41746002_41746010del	CA2670427151	PHOX2B	c.747_755del (p.Ala250_Ala252del)	gnomAD v4
4	g.41746005_41746019dup	CA915943035	PHOX2B	c.741_755dup (p.Ala252_Ala253insAlaAlaAlaAlaAla)	ClinVar dbSNP
4	g.41746005_41746019del	CA202339	PHOX2B	c.741_755del (p.Ala248_Ala252del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41745999_41746025del	CA2901443	PHOX2B	c.729_755del (p.Ala244_Ala252del)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41745998C>A	CA356737195	PHOX2B	c.754G>T (p.Ala252Ser)	gnomAD v4
4	g.41745998C>G	CA356737196	PHOX2B	c.754G>C (p.Ala252Pro)
4	g.41745998C>T	CA356737197	PHOX2B	c.754G>A (p.Ala252Thr)	ClinVar gnomAD v4
4	g.41745999_41746000insACC	CA2670427152	PHOX2B	c.754_755insTGG (p.Ala251_Ala252insVal)	gnomAD v4
4	g.41745999C>A	CA439143039	PHOX2B	c.753G>T (p.Ala251=)	gnomAD v4
4	g.41745999C>G	CA439143041	PHOX2B	c.753G>C (p.Ala251=)	ClinVar
4	g.41745999C>T	CA2901444	PHOX2B	c.753G>A (p.Ala251=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746000G>A	CA356737198	PHOX2B	c.752C>T (p.Ala251Val)	ClinVar dbSNP gnomAD v4
4	g.41746000G>C	CA356737199	PHOX2B	c.752C>G (p.Ala251Gly)	gnomAD v4
4	g.41746000G>T	CA356737200	PHOX2B	c.752C>A (p.Ala251Glu)	gnomAD v4
4	g.41746005_41746010dup	CA2497074304	PHOX2B	c.747_752dup (p.Ala251_Ala252insAlaAla)	dbSNP gnomAD v4
4	g.41746005_41746016del	CA794914401	PHOX2B	c.741_752del (p.Ala248_Ala251del)	dbSNP gnomAD v4
4	g.41746001C>A	CA356737201	PHOX2B	c.751G>T (p.Ala251Ser)	ClinVar gnomAD v4
4	g.41746001C>G	CA356737203	PHOX2B	c.751G>C (p.Ala251Pro)
4	g.41746001C>T	CA356737202	PHOX2B	c.751G>A (p.Ala251Thr)
4	g.41746002C>A	CA439143048	PHOX2B	c.750G>T (p.Ala250=)	ClinVar dbSNP gnomAD v4
4	g.41746002C>G	CA439143050	PHOX2B	c.750G>C (p.Ala250=)	ClinVar gnomAD v4
4	g.41746002C>T	CA2901446	PHOX2B	c.750G>A (p.Ala250=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746003G>A	CA356737204	PHOX2B	c.749C>T (p.Ala250Val)	gnomAD v4
4	g.41746003G>C	CA2901447	PHOX2B	c.749C>G (p.Ala250Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746003G>T	CA356737205	PHOX2B	c.749C>A (p.Ala250Glu)	ClinVar dbSNP gnomAD v4
4	g.41746005_41746007dup	CA2670427153	PHOX2B	c.747_749dup (p.Ala250_Ala251insAla)	gnomAD v4
4	g.41746005_41746007del	CA2497074305	PHOX2B	c.747_749del (p.Ala250del)	dbSNP gnomAD v4
4	g.41746008_41746028dup	CA658796423	PHOX2B	c.729_749dup (p.Ala250_Ala251insAlaAlaAlaAlaAlaAlaAla)	ClinVar dbSNP gnomAD v4
4	g.41746008_41746028del	CA2901445	PHOX2B	c.729_749del (p.Ala244_Ala250del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746004C>A	CA356737206	PHOX2B	c.748G>T (p.Ala250Ser)	gnomAD v4
4	g.41746004C>G	CA356737207	PHOX2B	c.748G>C (p.Ala250Pro)	dbSNP
4	g.41746004C>T	CA356737208	PHOX2B	c.748G>A (p.Ala250Thr)
4	g.41746005T>A	CA439143056	PHOX2B	c.747A>T (p.Ala249=)	ClinVar
4	g.41746005T>C	CA439143058	PHOX2B	c.747A>G (p.Ala249=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
4	g.41746005T>G	CA439143059	PHOX2B	c.747A>C (p.Ala249=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746010_41746044del	CA2586973797	PHOX2B	c.713_747del (p.Lys238SerfsTer?)
4	g.41746006G>A	CA2901448	PHOX2B	c.746C>T (p.Ala249Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746006G>C	CA356737209	PHOX2B	c.746C>G (p.Ala249Gly)
4	g.41746006G>T	CA356737210	PHOX2B	c.746C>A (p.Ala249Glu)	gnomAD v4
4	g.41746008_41746010dup	CA95828470	PHOX2B	c.744_746dup (p.Ala249_Ala250insAla)	dbSNP gnomAD v4
4	g.41746011_41746016dup	CA2578074975	PHOX2B	c.741_746dup (p.Ala249_Ala250insAlaAla)	gnomAD v4
4	g.41746011_41746016del	CA2497074306	PHOX2B	c.741_746del (p.Ala248_Ala249del)	dbSNP
4	g.41746011_41746022dup	CA917175457	PHOX2B	c.735_746dup (p.Ala249_Ala250insAlaAlaAlaAla)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746008_41746022dup	CA2580071007	PHOX2B	c.732_746dup (p.Ala249_Ala250insAlaAlaAlaAlaAla)	ClinVar
4	g.41746011_41746022del	CA2580071006	PHOX2B	c.735_746del (p.Ala246_Ala249del)	ClinVar gnomAD v4
4	g.41746008_41746022del	CA551141170	PHOX2B	c.732_746del (p.Ala245_Ala249del)	gnomAD v2 gnomAD v4
4	g.41746006_41746007insGCCGCGGCCGCC	CA2580071008	PHOX2B	c.745_746insGGCGGCCGCGGC (p.Ala249delinsGlyArgProArgPro)	ClinVar
4	g.41746007C>A	CA356737211	PHOX2B	c.745G>T (p.Ala249Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746007C>G	CA356737212	PHOX2B	c.745G>C (p.Ala249Pro)	gnomAD v3 gnomAD v4
4	g.41746007C>T	CA356737213	PHOX2B	c.745G>A (p.Ala249Thr)	ClinVar dbSNP gnomAD v4
4	g.41746008C>A	CA439143062	PHOX2B	c.744G>T (p.Ala248=)	ClinVar gnomAD v4
4	g.41746008C>G	CA439143061	PHOX2B	c.744G>C (p.Ala248=)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746008C>T	CA2901449	PHOX2B	c.744G>A (p.Ala248=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4	g.41746009G>A	CA356737214	PHOX2B	c.743C>T (p.Ala248Val)	ClinVar dbSNP gnomAD v4
4	g.41746009G>C	CA356737215	PHOX2B	c.743C>G (p.Ala248Gly)	dbSNP
4	g.41746009G>T	CA356737216	PHOX2B	c.743C>A (p.Ala248Glu)	ClinVar dbSNP gnomAD v4
4	g.41746010_41746011insTGC	CA2497074307	PHOX2B	c.743_744insAGC (p.Ala248_Ala249insAla)	dbSNP
4	g.41746011_41746013del	CA794914448	PHOX2B	c.741_743del (p.Ala248del)	dbSNP gnomAD v4
4	g.41746011_41746028dup	CA2573052329	PHOX2B	c.726_743dup (p.Ala248_Ala249insAlaAlaAlaAlaAlaAla)	ClinVar dbSNP
4	g.41746011_41746028del	CA1061554672	PHOX2B	c.726_743del (p.Ala243_Ala248del)	dbSNP gnomAD v3 gnomAD v4
4	g.41746012_41746032del	CA16611540	PHOX2B	c.723_743del (p.Ala242_Ala248del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746010C>A	CA356737217	PHOX2B	c.742G>T (p.Ala248Ser)
4	g.41746010C>G	CA356737218	PHOX2B	c.742G>C (p.Ala248Pro)	ClinVar
4	g.41746010C>T	CA356737219	PHOX2B	c.742G>A (p.Ala248Thr)	ClinVar gnomAD v4 COSMIC
4	g.41746010_41746011insT	CA2670427154	PHOX2B	c.741_742insA (p.Ala248SerfsTer?)	gnomAD v4
4	g.41746011G>A	CA439143070	PHOX2B	c.741C>T (p.Ala247=)	ClinVar gnomAD v4
4	g.41746011G>C	CA95828475	PHOX2B	c.741C>G (p.Ala247=)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746011G>T	CA2901450	PHOX2B	c.741C>A (p.Ala247=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746012del	CA2578074976	PHOX2B	c.741del (p.Ala248ArgfsTer?)
4	g.41746011_41746012insCC	CA2670427159	PHOX2B	c.740_741insGG (p.Ala249ArgfsTer?)	gnomAD v4
4	g.41746012G>A	CA356737220	PHOX2B	c.740C>T (p.Ala247Val)	gnomAD v4
4	g.41746012G>C	CA356737221	PHOX2B	c.740C>G (p.Ala247Gly)	ClinVar
4	g.41746012G>T	CA356737222	PHOX2B	c.740C>A (p.Ala247Asp)	gnomAD v4
4	g.41746020_41746022dup	CA2497074308	PHOX2B	c.738_740dup (p.Ala247_Ala248insAla)	dbSNP gnomAD v4
4	g.41746017_41746022dup	CA2670427158	PHOX2B	c.735_740dup (p.Ala247_Ala248insAlaAla)	gnomAD v4
4	g.41746020_41746022del	CA2670427157	PHOX2B	c.738_740del (p.Ala247del)	gnomAD v4
4	g.41746014_41746031del	CA2670427156	PHOX2B	c.723_740del (p.Ala242_Ala247del)	gnomAD v4
4	g.41746018_41746037del	CA645526519	PHOX2B	c.721_740del (p.Ala241ArgfsTer?)	gnomAD v4 COSMIC
4	g.41746015_41746037del	CA2670427155	PHOX2B	c.718_740del (p.Gly240ArgfsTer?)	gnomAD v4
4	g.41746013C>A	CA356737223	PHOX2B	c.739G>T (p.Ala247Ser)	gnomAD v4
4	g.41746013C>G	CA356737224	PHOX2B	c.739G>C (p.Ala247Pro)
4	g.41746013C>T	CA356737225	PHOX2B	c.739G>A (p.Ala247Thr)	ClinVar dbSNP gnomAD v4
4	g.41746014_41746034dup	CA2580071009	PHOX2B	c.719_739dup (p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla)	ClinVar
4	g.41746014_41746034del	CA2670427160	PHOX2B	c.719_739del (p.Gly240_Ala246del)	gnomAD v4
4	g.41746014C>A	CA439143076	PHOX2B	c.738G>T (p.Ala246=)	gnomAD v4
4	g.41746014C>G	CA439143077	PHOX2B	c.738G>C (p.Ala246=)	ClinVar dbSNP gnomAD v4
4	g.41746014C>T	CA439143078	PHOX2B	c.738G>A (p.Ala246=)	ClinVar dbSNP gnomAD v4
4	g.41746021_41746037dup	CA2586973798	PHOX2B	c.722_738dup (p.Ala247GlnfsTer?)
4	g.41746021_41746037del	CA2586973799	PHOX2B	c.722_738del (p.Ala241GlyfsTer?)	gnomAD v4
4	g.41746015G>A	CA356737226	PHOX2B	c.737C>T (p.Ala246Val)	dbSNP gnomAD v2 gnomAD v4
4	g.41746015G>C	CA356737228	PHOX2B	c.737C>G (p.Ala246Gly)	dbSNP gnomAD v4
4	g.41746015G>T	CA356737227	PHOX2B	c.737C>A (p.Ala246Glu)	gnomAD v4
4	g.41746016C>A	CA356737229	PHOX2B	c.736G>T (p.Ala246Ser)	gnomAD v4
4	g.41746016C>G	CA356737231	PHOX2B	c.736G>C (p.Ala246Pro)
4	g.41746016C>T	CA356737230	PHOX2B	c.736G>A (p.Ala246Thr)	gnomAD v4
4	g.41746017C>A	CA439143081	PHOX2B	c.735G>T (p.Ala245=)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746017C>G	CA439143083	PHOX2B	c.735G>C (p.Ala245=)	ClinVar dbSNP gnomAD v4
4	g.41746017C>T	CA439143084	PHOX2B	c.735G>A (p.Ala245=)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746018G>A	CA356737232	PHOX2B	c.734C>T (p.Ala245Val)	ClinVar dbSNP gnomAD v4
4	g.41746018G>C	CA356737233	PHOX2B	c.734C>G (p.Ala245Gly)	ClinVar
4	g.41746018G>T	CA356737234	PHOX2B	c.734C>A (p.Ala245Glu)	gnomAD v4
4	g.41746019C>A	CA356737235	PHOX2B	c.733G>T (p.Ala245Ser)	gnomAD v4
4	g.41746019C>G	CA356737236	PHOX2B	c.733G>C (p.Ala245Pro)
4	g.41746019C>T	CA356737237	PHOX2B	c.733G>A (p.Ala245Thr)	ClinVar dbSNP gnomAD v4
4	g.41746019_41746020insG	CA95828479	PHOX2B	c.732_733insC (p.Ala245ArgfsTer?)	dbSNP
4	g.41746020C>A	CA439143092	PHOX2B	c.732G>T (p.Ala244=)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746020C>G	CA439143093	PHOX2B	c.732G>C (p.Ala244=)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746020C>T	CA439143094	PHOX2B	c.732G>A (p.Ala244=)	ClinVar dbSNP gnomAD v4
4	g.41746021_41746022insACG	CA2497074309	PHOX2B	c.732_733insTCG (p.Ala244_Ala245insSer)	ClinVar dbSNP
4	g.41746021G>A	CA356737238	PHOX2B	c.731C>T (p.Ala244Val)	ClinVar dbSNP gnomAD v4
4	g.41746021G>C	CA356737239	PHOX2B	c.731C>G (p.Ala244Gly)
4	g.41746021G>T	CA356737240	PHOX2B	c.731C>A (p.Ala244Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746029_41746031dup	CA2670427162	PHOX2B	c.729_731dup (p.Ala244_Ala245insAla)	gnomAD v4
4	g.41746029_41746031del	CA2670427161	PHOX2B	c.729_731del (p.Ala244del)	gnomAD v4
4	g.41746022C>A	CA356737242	PHOX2B	c.730G>T (p.Ala244Ser)	gnomAD v4
4	g.41746022C>G	CA16611542	PHOX2B	c.730G>C (p.Ala244Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746022C>T	CA356737241	PHOX2B	c.730G>A (p.Ala244Thr)
4	g.41746023T>A	CA439143097	PHOX2B	c.729A>T (p.Ala243=)	ClinVar
4	g.41746023T>C	CA2901451	PHOX2B	c.729A>G (p.Ala243=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746023T>G	CA95828483	PHOX2B	c.729A>C (p.Ala243=)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746023_41746081del	CA2695199371	PHOX2B	c.671_729del (p.Pro224ArgfsTer?)	ClinVar
4	g.41746024G>A	CA356737244	PHOX2B	c.728C>T (p.Ala243Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746024G>C	CA356737245	PHOX2B	c.728C>G (p.Ala243Gly)
4	g.41746024G>T	CA356737247	PHOX2B	c.728C>A (p.Ala243Glu)	gnomAD v4
4	g.41746025C>A	CA356737249	PHOX2B	c.727G>T (p.Ala243Ser)	gnomAD v4
4	g.41746025C>G	CA356737250	PHOX2B	c.727G>C (p.Ala243Pro)	gnomAD v4
4	g.41746025C>T	CA356737252	PHOX2B	c.727G>A (p.Ala243Thr)	gnomAD v4
4	g.41746026T>A	CA439143105	PHOX2B	c.726A>T (p.Ala242=)	ClinVar
4	g.41746026T>C	CA2901452	PHOX2B	c.726A>G (p.Ala242=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746026T>G	CA439143103	PHOX2B	c.726A>C (p.Ala242=)	ClinVar dbSNP
4	g.41746027G>A	CA356737255	PHOX2B	c.725C>T (p.Ala242Val)	ClinVar dbSNP gnomAD v4
4	g.41746027G>C	CA356737256	PHOX2B	c.725C>G (p.Ala242Gly)	gnomAD v4
4	g.41746027G>T	CA356737258	PHOX2B	c.725C>A (p.Ala242Glu)	gnomAD v4
4	g.41746028C>A	CA356737262	PHOX2B	c.724G>T (p.Ala242Ser)	gnomAD v4
4	g.41746028C>G	CA356737263	PHOX2B	c.724G>C (p.Ala242Pro)	gnomAD v4
4	g.41746028C>T	CA356737260	PHOX2B	c.724G>A (p.Ala242Thr)	gnomAD v4
4	g.41746029T>A	CA439143114	PHOX2B	c.723A>T (p.Ala241=)	ClinVar
4	g.41746029T>C	CA439143113	PHOX2B	c.723A>G (p.Ala241=)	ClinVar dbSNP gnomAD v4
4	g.41746029T>G	CA439143112	PHOX2B	c.723A>C (p.Ala241=)	ClinVar
4	g.41746029_41746030del	CA2670427163	PHOX2B	c.722_723del (p.Ala241GlyfsTer?)	gnomAD v4
4	g.41746030del	CA913189174	PHOX2B	c.722del (p.Ala241GlufsTer?)
4	g.41746030G>A	CA356737266	PHOX2B	c.722C>T (p.Ala241Val)	gnomAD v4
4	g.41746030G>C	CA356737268	PHOX2B	c.722C>G (p.Ala241Gly)
4	g.41746030G>T	CA356737269	PHOX2B	c.722C>A (p.Ala241Glu)	gnomAD v4
4	g.41746031C>A	CA356737271	PHOX2B	c.721G>T (p.Ala241Ser)	gnomAD v4
4	g.41746031C>G	CA356737273	PHOX2B	c.721G>C (p.Ala241Pro)	ClinVar gnomAD v4
4	g.41746031C>T	CA356737275	PHOX2B	c.721G>A (p.Ala241Thr)	ClinVar gnomAD v4
4	g.41746032G>A	CA439143123	PHOX2B	c.720C>T (p.Gly240=)	ClinVar dbSNP gnomAD v4
4	g.41746032G>C	CA439143125	PHOX2B	c.720C>G (p.Gly240=)	gnomAD v4
4	g.41746032G>T	CA439143124	PHOX2B	c.720C>A (p.Gly240=)	gnomAD v4
4	g.41746033C>A	CA356737277	PHOX2B	c.719G>T (p.Gly240Val) n.540G>T	gnomAD v4
4	g.41746033C>G	CA356737279	PHOX2B	c.719G>C (p.Gly240Ala) n.540G>C
4	g.41746033C>T	CA16611433	PHOX2B	c.719G>A (p.Gly240Asp) n.540G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746034C>A	CA356737280	PHOX2B	c.718G>T (p.Gly240Cys) n.539G>T	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746034C>G	CA356737281	PHOX2B	c.718G>C (p.Gly240Arg) n.539G>C	ClinVar gnomAD v4
4	g.41746034C>T	CA356737283	PHOX2B	c.718G>A (p.Gly240Ser) n.539G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746035G>A	CA439143130	PHOX2B	c.717C>T (p.Gly239=) n.538C>T	ClinVar gnomAD v4
4	g.41746035G>C	CA439143132	PHOX2B	c.717C>G (p.Gly239=) n.538C>G	ClinVar
4	g.41746035G>T	CA439143135	PHOX2B	c.717C>A (p.Gly239=) n.538C>A	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746036C>A	CA356737286	PHOX2B	c.716G>T (p.Gly239Val) n.537G>T	ClinVar dbSNP gnomAD v4
4	g.41746036C>G	CA356737288	PHOX2B	c.716G>C (p.Gly239Ala) n.537G>C
4	g.41746036C>T	CA356737285	PHOX2B	c.716G>A (p.Gly239Asp) n.537G>A	ClinVar dbSNP gnomAD v4
4	g.41746037C>A	CA356737289	PHOX2B	c.715G>T (p.Gly239Cys) n.536G>T	ClinVar dbSNP gnomAD v4
4	g.41746037C>G	CA356737290	PHOX2B	c.715G>C (p.Gly239Arg) n.536G>C	gnomAD v4
4	g.41746037C>T	CA356737292	PHOX2B	c.715G>A (p.Gly239Ser) n.536G>A	ClinVar dbSNP gnomAD v4
4	g.41746038C>A	CA356737294	PHOX2B	c.714G>T (p.Lys238Asn) n.535G>T	ClinVar dbSNP gnomAD v4
4	g.41746038C>G	CA356737295	PHOX2B	c.714G>C (p.Lys238Asn) n.535G>C
4	g.41746038C>T	CA439143144	PHOX2B	c.714G>A (p.Lys238=) n.535G>A	ClinVar dbSNP gnomAD v4
4	g.41746039_41746051dup	CA645526520	PHOX2B	c.702_714dup (p.Gly239ArgfsTer?) n.523_535dup	ClinVar COSMIC
4	g.41746039T>A	CA356737301	PHOX2B	c.713A>T (p.Lys238Met) n.534A>T	gnomAD v4
4	g.41746039T>C	CA356737297	PHOX2B	c.713A>G (p.Lys238Arg) n.534A>G	ClinVar dbSNP gnomAD v4
4	g.41746039T>G	CA356737299	PHOX2B	c.713A>C (p.Lys238Thr) n.534A>C
4	g.41746040T>A	CA356737303	PHOX2B	c.712A>T (p.Lys238Ter) n.533A>T	ClinVar
4	g.41746040T>C	CA356737304	PHOX2B	c.712A>G (p.Lys238Glu) n.533A>G	gnomAD v4
4	g.41746040T>G	CA356737307	PHOX2B	c.712A>C (p.Lys238Gln) n.533A>C	ClinVar
4	g.41746041G>A	CA439142846	PHOX2B	c.711C>T (p.Gly237=) n.532C>T	ClinVar dbSNP gnomAD v4
4	g.41746041G>C	CA439142847	PHOX2B	c.711C>G (p.Gly237=) n.532C>G	ClinVar
4	g.41746041G>T	CA439142849	PHOX2B	c.711C>A (p.Gly237=) n.532C>A	gnomAD v4
4	g.41746047_41746095del	CA2586973800	PHOX2B	c.663_711del (p.Gly222ArgfsTer?) n.484_532del
4	g.41746041_41746042insTCTCTTATA	CA2670427165	PHOX2B	c.710_711insTATAAGAGA (p.Gly237_Lys238insIleArgAsp) n.531_532insTATAAGAGA	gnomAD v4
4	g.41746041_41746042insTCTCTTATACA	CA2670427164	PHOX2B	c.710_711insTGTATAAGAGA (p.Lys238ValfsTer2) n.531_532insTGTATAAGAGA	gnomAD v4
4	g.41746042C>A	CA356737308	PHOX2B	c.710G>T (p.Gly237Val) n.531G>T	dbSNP gnomAD v2 gnomAD v4
4	g.41746042C>G	CA356737310	PHOX2B	c.710G>C (p.Gly237Ala) n.531G>C	ClinVar dbSNP gnomAD v4
4	g.41746042C>T	CA356737311	PHOX2B	c.710G>A (p.Gly237Asp) n.531G>A	ClinVar dbSNP gnomAD v4
4	g.41746043del	CA2586973802	PHOX2B	c.710del (p.Gly237AlafsTer?) n.531del
4	g.41746043C>A	CA356737317	PHOX2B	c.709G>T (p.Gly237Cys) n.530G>T	ClinVar dbSNP gnomAD v4
4	g.41746043C>G	CA356737316	PHOX2B	c.709G>C (p.Gly237Arg) n.530G>C	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746043C>T	CA356737314	PHOX2B	c.709G>A (p.Gly237Ser) n.530G>A	ClinVar dbSNP gnomAD v4
4	g.41746044G>A	CA95828493	PHOX2B	c.708C>T (p.Pro236=) n.529C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746044G>C	CA439142854	PHOX2B	c.708C>G (p.Pro236=) n.529C>G	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746044G>T	CA439142855	PHOX2B	c.708C>A (p.Pro236=) n.529C>A	gnomAD v4
4	g.41746045_41746046del	CA2586973803	PHOX2B	c.707_708del (p.Pro236ArgfsTer?) n.528_529del
4	g.41746044_41746059dup	CA2586973804	PHOX2B	c.693_708dup (p.Gly237ProfsTer?) n.514_529dup
4	g.41746045G>A	CA356737318	PHOX2B	c.707C>T (p.Pro236Leu) n.528C>T	ClinVar dbSNP gnomAD v4 COSMIC
4	g.41746045G>C	CA356737320	PHOX2B	c.707C>G (p.Pro236Arg) n.528C>G
4	g.41746045G>T	CA356737321	PHOX2B	c.707C>A (p.Pro236His) n.528C>A	gnomAD v4
4	g.41746045_41746046insT	CA2761184303	PHOX2B	c.706_707insA (p.Pro236HisfsTer?) n.527_528insA
4	g.41746046G>A	CA356737323	PHOX2B	c.706C>T (p.Pro236Ser) n.527C>T	dbSNP gnomAD v4
4	g.41746046G>C	CA356737325	PHOX2B	c.706C>G (p.Pro236Ala) n.527C>G
4	g.41746046G>T	CA356737326	PHOX2B	c.706C>A (p.Pro236Thr) n.527C>A	gnomAD v4
4	g.41746046_41746053del	CA2586973805	PHOX2B	c.699_706del (p.Gly234ArgfsTer?) n.520_527del
4	g.41746047T>A	CA356737330	PHOX2B	c.705A>T (p.Glu235Asp) n.526A>T
4	g.41746047T>C	CA439142859	PHOX2B	c.705A>G (p.Glu235=) n.526A>G	ClinVar gnomAD v4
4	g.41746047T>G	CA356737328	PHOX2B	c.705A>C (p.Glu235Asp) n.526A>C
4	g.41746048T>A	CA356737332	PHOX2B	c.704A>T (p.Glu235Val) n.525A>T
4	g.41746048T>C	CA356737333	PHOX2B	c.704A>G (p.Glu235Gly) n.525A>G	gnomAD v4
4	g.41746048T>G	CA356737335	PHOX2B	c.704A>C (p.Glu235Ala) n.525A>C
4	g.41746049C>A	CA356737336	PHOX2B	c.703G>T (p.Glu235Ter) n.524G>T	ClinVar dbSNP gnomAD v4
4	g.41746049C>G	CA356737338	PHOX2B	c.703G>C (p.Glu235Gln) n.524G>C	ClinVar
4	g.41746049C>T	CA356737339	PHOX2B	c.703G>A (p.Glu235Lys) n.524G>A	gnomAD v4
4	g.41746050G>A	CA439142862	PHOX2B	c.702C>T (p.Gly234=) n.523C>T	ClinVar gnomAD v4
4	g.41746050G>C	CA439142863	PHOX2B	c.702C>G (p.Gly234=) n.523C>G	ClinVar dbSNP gnomAD v4
4	g.41746050G>T	CA439142864	PHOX2B	c.702C>A (p.Gly234=) n.523C>A	ClinVar gnomAD v4
4	g.41746051C>A	CA356737341	PHOX2B	c.701G>T (p.Gly234Val) n.522G>T	gnomAD v4
4	g.41746051C>G	CA356737344	PHOX2B	c.701G>C (p.Gly234Ala) n.522G>C
4	g.41746051C>T	CA356737343	PHOX2B	c.701G>A (p.Gly234Asp) n.522G>A	dbSNP gnomAD v3 gnomAD v4
4	g.41746052C>A	CA356737347	PHOX2B	c.700G>T (p.Gly234Cys) n.521G>T	gnomAD v4
4	g.41746052C>G	CA356737349	PHOX2B	c.700G>C (p.Gly234Arg) n.521G>C
4	g.41746052C>T	CA356737350	PHOX2B	c.700G>A (p.Gly234Ser) n.521G>A	ClinVar dbSNP gnomAD v2
4	g.41746053_41746060del	CA2586973806	PHOX2B	c.693_700del (p.Pro232ArgfsTer?) n.514_521del
4	g.41746053T>A	CA439142870	PHOX2B	c.699A>T (p.Gly233=) n.520A>T	gnomAD v4
4	g.41746053T>C	CA439142872	PHOX2B	c.699A>G (p.Gly233=) n.520A>G	ClinVar dbSNP gnomAD v4
4	g.41746053T>G	CA439142873	PHOX2B	c.699A>C (p.Gly233=) n.520A>C
4	g.41746054C>A	CA356737352	PHOX2B	c.698G>T (p.Gly233Val) n.519G>T	gnomAD v4
4	g.41746054C>G	CA356737354	PHOX2B	c.698G>C (p.Gly233Ala) n.519G>C	ClinVar
4	g.41746054C>T	CA356737356	PHOX2B	c.698G>A (p.Gly233Glu) n.519G>A	gnomAD v4
4	g.41746056del	CA2670427166	PHOX2B	c.698del (p.Gly233GlufsTer?) n.519del	gnomAD v4
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.41746055C>A	CA356737357	PHOX2B	c.697G>T (p.Gly233Ter) n.518G>T	gnomAD v4
4	g.41746055C>G	CA356737358	PHOX2B	c.697G>C (p.Gly233Arg) n.518G>C
4	g.41746055C>T	CA356737360	PHOX2B	c.697G>A (p.Gly233Arg) n.518G>A	gnomAD v4
4	g.41746056C>A	CA439142877	PHOX2B	c.696G>T (p.Pro232=) n.517G>T	ClinVar gnomAD v4
4	g.41746056C>G	CA439142878	PHOX2B	c.696G>C (p.Pro232=) n.517G>C	ClinVar gnomAD v4
4	g.41746056C>T	CA439142879	PHOX2B	c.696G>A (p.Pro232=) n.517G>A	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched