Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
4	g.41746236C>A	CA439143377	PHOX2B	c.516G>T (p.Ser172=) n.337G>T	ClinVar dbSNP
4	g.41746236C>G	CA439143376	PHOX2B	c.516G>C (p.Ser172=) n.337G>C	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746236C>T	CA439143370	PHOX2B	c.516G>A (p.Ser172=) n.337G>A
4	g.41746237G>A	CA356738403	PHOX2B	c.515C>T (p.Ser172Leu) n.336C>T	ClinVar dbSNP
4	g.41746237G>C	CA356738406	PHOX2B	c.515C>G (p.Ser172Trp) n.336C>G	ClinVar dbSNP gnomAD v4
4	g.41746237G>T	CA356738408	PHOX2B	c.515C>A (p.Ser172Ter) n.336C>A
4	g.41746238A>C	CA356738411	PHOX2B	c.514T>G (p.Ser172Ala) n.335T>G
4	g.41746238A>G	CA2901483	PHOX2B	c.514T>C (p.Ser172Pro) n.335T>C	dbSNP ExAC gnomAD v2
4	g.41746238A>T	CA356738417	PHOX2B	c.514T>A (p.Ser172Thr) n.335T>A
4	g.41746239G>A	CA439143385	PHOX2B	c.513C>T (p.Ser171=) n.334C>T	ClinVar
4	g.41746239G>C	CA439143383	PHOX2B	c.513C>G (p.Ser171=) n.334C>G
4	g.41746239G>T	CA439143382	PHOX2B	c.513C>A (p.Ser171=) n.334C>A	COSMIC
4	g.41746240G>A	CA356738419	PHOX2B	c.512C>T (p.Ser171Phe) n.333C>T	ClinVar dbSNP
4	g.41746240G>C	CA356738424	PHOX2B	c.512C>G (p.Ser171Cys) n.333C>G	ClinVar dbSNP
4	g.41746240G>T	CA356738420	PHOX2B	c.512C>A (p.Ser171Tyr) n.333C>A	gnomAD v4
4	g.41746241A>C	CA356738427	PHOX2B	c.511T>G (p.Ser171Ala) n.332T>G
4	g.41746241A>G	CA356738430	PHOX2B	c.511T>C (p.Ser171Pro) n.332T>C	ClinVar dbSNP
4	g.41746241A>T	CA356738428	PHOX2B	c.511T>A (p.Ser171Thr) n.332T>A
4	g.41746242G>A	CA439143400	PHOX2B	c.510C>T (p.Gly170=) n.331C>T	ClinVar dbSNP gnomAD v4
4	g.41746242G>C	CA439143404	PHOX2B	c.510C>G (p.Gly170=) n.331C>G
4	g.41746242G>T	CA439143401	PHOX2B	c.510C>A (p.Gly170=) n.331C>A
4	g.41746243C>A	CA356738432	PHOX2B	c.509G>T (p.Gly170Val) n.330G>T	ClinVar
4	g.41746243C>G	CA356738435	PHOX2B	c.509G>C (p.Gly170Ala) n.330G>C
4	g.41746243C>T	CA356738436	PHOX2B	c.509G>A (p.Gly170Asp) n.330G>A	ClinVar gnomAD v4
4	g.41746244C>A	CA356738439	PHOX2B	c.508G>T (p.Gly170Cys) n.329G>T	ClinVar dbSNP gnomAD v4
4	g.41746244C>G	CA2901484	PHOX2B	c.508G>C (p.Gly170Arg) n.329G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746244C>T	CA356738444	PHOX2B	c.508G>A (p.Gly170Ser) n.329G>A	ClinVar dbSNP gnomAD v4
4	g.41746245G>A	CA439143417	PHOX2B	c.507C>T (p.Asn169=) n.328C>T	ClinVar gnomAD v4
4	g.41746245G>C	CA356738449	PHOX2B	c.507C>G (p.Asn169Lys) n.328C>G
4	g.41746245G>T	CA356738452	PHOX2B	c.507C>A (p.Asn169Lys) n.328C>A	ClinVar dbSNP
4	g.41746246T>A	CA356738456	PHOX2B	c.506A>T (p.Asn169Ile) n.327A>T
4	g.41746246T>C	CA356738458	PHOX2B	c.506A>G (p.Asn169Ser) n.327A>G
4	g.41746246T>G	CA356738461	PHOX2B	c.506A>C (p.Asn169Thr) n.327A>C
4	g.41746247T>A	CA356738469	PHOX2B	c.505A>T (p.Asn169Tyr) n.326A>T
4	g.41746247T>C	CA356738466	PHOX2B	c.505A>G (p.Asn169Asp) n.326A>G	COSMIC
4	g.41746247T>G	CA356738467	PHOX2B	c.505A>C (p.Asn169His) n.326A>C
4	g.41746248C>A	CA356738473	PHOX2B	c.504G>T (p.Lys168Asn) n.325G>T
4	g.41746248C>G	CA356738476	PHOX2B	c.504G>C (p.Lys168Asn) n.325G>C
4	g.41746248C>T	CA95828617	PHOX2B	c.504G>A (p.Lys168=) n.325G>A	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
4	g.41746249T>A	CA356738478	PHOX2B	c.503A>T (p.Lys168Met) n.324A>T
4	g.41746249T>C	CA2901485	PHOX2B	c.503A>G (p.Lys168Arg) n.324A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746249T>G	CA356738483	PHOX2B	c.503A>C (p.Lys168Thr) n.324A>C
4	g.41746250T>A	CA356738486	PHOX2B	c.502A>T (p.Lys168Ter) n.323A>T
4	g.41746250T>C	CA356738488	PHOX2B	c.502A>G (p.Lys168Glu) n.323A>G	gnomAD v4
4	g.41746250T>G	CA356738492	PHOX2B	c.502A>C (p.Lys168Gln) n.323A>C
4	g.41746251G>A	CA439143441	PHOX2B	c.501C>T (p.Ala167=) n.322C>T
4	g.41746251G>C	CA439143442	PHOX2B	c.501C>G (p.Ala167=) n.322C>G	gnomAD v4
4	g.41746251G>T	CA439143443	PHOX2B	c.501C>A (p.Ala167=) n.322C>A	dbSNP
4	g.41746257_41746262dup	CA2497074311	PHOX2B	c.496_501dup (p.Ala167_Lys168insAlaAla) n.317_322dup	ClinVar dbSNP
4	g.41746251_41746268dup	CA2573137671	PHOX2B	c.484_501dup (p.Ala167_Lys168insAlaAlaAlaAlaAlaAla) n.305_322dup	ClinVar dbSNP
4	g.41746252G>A	CA356738495	PHOX2B	c.500C>T (p.Ala167Val) n.321C>T	ClinVar
4	g.41746252G>C	CA356738498	PHOX2B	c.500C>G (p.Ala167Gly) n.321C>G
4	g.41746252G>T	CA356738501	PHOX2B	c.500C>A (p.Ala167Asp) n.321C>A
4	g.41746257_41746274dup	CA658780103	PHOX2B	c.483_500dup (p.Ala167_Lys168insAlaAlaAlaAlaAlaAla) n.304_321dup	dbSNP gnomAD v4
4	g.41746253C>A	CA356738507	PHOX2B	c.499G>T (p.Ala167Ser) n.320G>T
4	g.41746253C>G	CA356738510	PHOX2B	c.499G>C (p.Ala167Pro) n.320G>C
4	g.41746253C>T	CA356738504	PHOX2B	c.499G>A (p.Ala167Thr) n.320G>A	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
4	g.41746254C>A	CA2901486	PHOX2B	c.498G>T (p.Ala166=) n.319G>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746254C>G	CA439143453	PHOX2B	c.498G>C (p.Ala166=) n.319G>C
4	g.41746254C>T	CA439143455	PHOX2B	c.498G>A (p.Ala166=) n.319G>A	ClinVar dbSNP gnomAD v4
4	g.41746255G>A	CA2901487	PHOX2B	c.497C>T (p.Ala166Val) n.318C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4	g.41746255G>C	CA356738522	PHOX2B	c.497C>G (p.Ala166Gly) n.318C>G
4	g.41746255G>T	CA356738525	PHOX2B	c.497C>A (p.Ala166Glu) n.318C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746257_41746268dup	CA2497074312	PHOX2B	c.486_497dup (p.Ala166_Ala167insAlaAlaAlaAla) n.307_318dup	ClinVar dbSNP
4	g.41746256C>A	CA356738529	PHOX2B	c.496G>T (p.Ala166Ser) n.317G>T
4	g.41746256C>G	CA356738530	PHOX2B	c.496G>C (p.Ala166Pro) n.317G>C
4	g.41746256C>T	CA356738533	PHOX2B	c.496G>A (p.Ala166Thr) n.317G>A	ClinVar dbSNP gnomAD v4 COSMIC
4	g.41746257G>A	CA439143462	PHOX2B	c.495C>T (p.Ala165=) n.316C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746257G>C	CA439143463	PHOX2B	c.495C>G (p.Ala165=) n.316C>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746257G>T	CA439143461	PHOX2B	c.495C>A (p.Ala165=) n.316C>A
4	g.41746258G>A	CA356738537	PHOX2B	c.494C>T (p.Ala165Val) n.315C>T
4	g.41746258G>C	CA356738541	PHOX2B	c.494C>G (p.Ala165Gly) n.315C>G
4	g.41746258G>T	CA356738538	PHOX2B	c.494C>A (p.Ala165Asp) n.315C>A
4	g.41746267_41746278dup	CA2573137672	PHOX2B	c.483_494dup (p.Ala165_Ala166insAlaAlaAlaAla) n.304_315dup	ClinVar dbSNP gnomAD v4
4	g.41746267_41746278del	CA794915032	PHOX2B	c.483_494del (p.Ala162_Ala165del) n.304_315del	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.41746259C>A	CA356738543	PHOX2B	c.493G>T (p.Ala165Ser) n.314G>T
4	g.41746259C>G	CA356738546	PHOX2B	c.493G>C (p.Ala165Pro) n.314G>C
4	g.41746259C>T	CA356738548	PHOX2B	c.493G>A (p.Ala165Thr) n.314G>A
4	g.41746260C>A	CA439143474	PHOX2B	c.492G>T (p.Ala164=) n.313G>T	gnomAD v4
4	g.41746260C>G	CA439143472	PHOX2B	c.492G>C (p.Ala164=) n.313G>C	ClinVar
4	g.41746260C>T	CA2901488	PHOX2B	c.492G>A (p.Ala164=) n.313G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4	g.41746261G>A	CA356738551	PHOX2B	c.491C>T (p.Ala164Val) n.312C>T	gnomAD v4
4	g.41746261G>C	CA356738557	PHOX2B	c.491C>G (p.Ala164Gly) n.312C>G	ClinVar
4	g.41746261G>T	CA356738553	PHOX2B	c.491C>A (p.Ala164Glu) n.312C>A	dbSNP gnomAD v2
4	g.41746266_41746271dup	CA2670427177	PHOX2B	c.486_491dup (p.Ala164_Ala165insAlaAla) n.307_312dup	gnomAD v4
4	g.41746262C>A	CA356738560	PHOX2B	c.490G>T (p.Ala164Ser) n.311G>T
4	g.41746262C>G	CA356738562	PHOX2B	c.490G>C (p.Ala164Pro) n.311G>C
4	g.41746262C>T	CA356738565	PHOX2B	c.490G>A (p.Ala164Thr) n.311G>A
4	g.41746262dup	CA645526523	PHOX2B	c.490dup (p.Ala164GlyfsTer14) n.311dup	COSMIC
4	g.41746263T>A	CA439143483	PHOX2B	c.489A>T (p.Ala163=) n.310A>T
4	g.41746263T>C	CA439143486	PHOX2B	c.489A>G (p.Ala163=) n.310A>G	ClinVar gnomAD v4
4	g.41746263T>G	CA439143485	PHOX2B	c.489A>C (p.Ala163=) n.310A>C
4	g.41746264G>A	CA356738569	PHOX2B	c.488C>T (p.Ala163Val) n.309C>T
4	g.41746264G>C	CA356738572	PHOX2B	c.488C>G (p.Ala163Gly) n.309C>G
4	g.41746264G>T	CA356738575	PHOX2B	c.488C>A (p.Ala163Glu) n.309C>A
4	g.41746265C>A	CA356738578	PHOX2B	c.487G>T (p.Ala163Ser) n.308G>T	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746265C>G	CA356738580	PHOX2B	c.487G>C (p.Ala163Pro) n.308G>C
4	g.41746265C>T	CA2901489	PHOX2B	c.487G>A (p.Ala163Thr) n.308G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4	g.41746266G>A	CA2901490	PHOX2B	c.486C>T (p.Ala162=) n.307C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746266G>C	CA439143497	PHOX2B	c.486C>G (p.Ala162=) n.307C>G
4	g.41746266G>T	CA2901491	PHOX2B	c.486C>A (p.Ala162=) n.307C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746267G>A	CA356738588	PHOX2B	c.485C>T (p.Ala162Val) n.306C>T	COSMIC
4	g.41746267G>C	CA356738593	PHOX2B	c.485C>G (p.Ala162Gly) n.306C>G	dbSNP gnomAD v2 gnomAD v4
4	g.41746267G>T	CA356738591	PHOX2B	c.485C>A (p.Ala162Asp) n.306C>A
4	g.41746268C>A	CA356738595	PHOX2B	c.484G>T (p.Ala162Ser) n.305G>T
4	g.41746268C>G	CA356738600	PHOX2B	c.484G>C (p.Ala162Pro) n.305G>C
4	g.41746268C>T	CA356738597	PHOX2B	c.484G>A (p.Ala162Thr) n.305G>A
4	g.41746269T>A	CA439143518	PHOX2B	c.483A>T (p.Ala161=) n.304A>T
4	g.41746269T>C	CA439143520	PHOX2B	c.483A>G (p.Ala161=) n.304A>G
4	g.41746269T>G	CA2901492	PHOX2B	c.483A>C (p.Ala161=) n.304A>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746270G>A	CA356738606	PHOX2B	c.482C>T (p.Ala161Val) n.303C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746270G>C	CA356738608	PHOX2B	c.482C>G (p.Ala161Gly) n.303C>G
4	g.41746270G>T	CA356738610	PHOX2B	c.482C>A (p.Ala161Glu) n.303C>A
4	g.41746271C>A	CA356738613	PHOX2B	c.481G>T (p.Ala161Ser) n.302G>T
4	g.41746271C>G	CA95828640	PHOX2B	c.481G>C (p.Ala161Pro) n.302G>C	dbSNP
4	g.41746271C>T	CA356738618	PHOX2B	c.481G>A (p.Ala161Thr) n.302G>A
4	g.41746272del	CA2586973824	PHOX2B	c.481del (p.Ala161GlnfsTer?) n.302del
4	g.41746272C>A	CA439143525	PHOX2B	c.480G>T (p.Ala160=) n.301G>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746272C>G	CA2901493	PHOX2B	c.480G>C (p.Ala160=) n.301G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746272C>T	CA439143527	PHOX2B	c.480G>A (p.Ala160=) n.301G>A	ClinVar dbSNP gnomAD v4
4	g.41746273_41746274dup	CA2739270047	PHOX2B	c.479_480dup (p.Ala161ArgfsTer?) n.300_301dup	ClinVar
4	g.41746273G>A	CA356738625	PHOX2B	c.479C>T (p.Ala160Val) n.300C>T	ClinVar dbSNP gnomAD v4
4	g.41746273G>C	CA356738628	PHOX2B	c.479C>G (p.Ala160Gly) n.300C>G	ClinVar dbSNP gnomAD v4
4	g.41746273G>T	CA356738630	PHOX2B	c.479C>A (p.Ala160Glu) n.300C>A
4	g.41746274C>A	CA356738634	PHOX2B	c.478G>T (p.Ala160Ser) n.299G>T
4	g.41746274C>G	CA356738640	PHOX2B	c.478G>C (p.Ala160Pro) n.299G>C
4	g.41746274C>T	CA356738641	PHOX2B	c.478G>A (p.Ala160Thr) n.299G>A
4	g.41746275T>A	CA439143528	PHOX2B	c.477A>T (p.Ala159=) n.298A>T
4	g.41746275T>C	CA439143531	PHOX2B	c.477A>G (p.Ala159=) n.298A>G
4	g.41746275T>G	CA439143533	PHOX2B	c.477A>C (p.Ala159=) n.298A>C	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746276G>A	CA356738644	PHOX2B	c.476C>T (p.Ala159Val) n.297C>T	ClinVar dbSNP gnomAD v4
4	g.41746276G>C	CA356738649	PHOX2B	c.476C>G (p.Ala159Gly) n.297C>G
4	g.41746276G>T	CA356738647	PHOX2B	c.476C>A (p.Ala159Glu) n.297C>A
4	g.41746277C>A	CA356738652	PHOX2B	c.475G>T (p.Ala159Ser) n.296G>T	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.41746277C>G	CA356738655	PHOX2B	c.475G>C (p.Ala159Pro) n.296G>C	dbSNP
4	g.41746277C>T	CA356738657	PHOX2B	c.475G>A (p.Ala159Thr) n.296G>A	ClinVar
4	g.41746278G>A	CA439143547	PHOX2B	c.474C>T (p.Arg158=) n.295C>T
4	g.41746278G>C	CA439143552	PHOX2B	c.474C>G (p.Arg158=) n.295C>G
4	g.41746278G>T	CA439143554	PHOX2B	c.474C>A (p.Arg158=) n.295C>A	ClinVar
4	g.41746279C>A	CA356738660	PHOX2B	c.473G>T (p.Arg158Leu) n.294G>T
4	g.41746279C>G	CA356738663	PHOX2B	c.473G>C (p.Arg158Pro) n.294G>C
4	g.41746279C>T	CA356738666	PHOX2B	c.473G>A (p.Arg158His) n.294G>A	COSMIC
4	g.41746280G>A	CA356738671	PHOX2B	c.472C>T (p.Arg158Cys) n.293C>T	COSMIC
4	g.41746280G>C	CA356738673	PHOX2B	c.472C>G (p.Arg158Gly) n.293C>G
4	g.41746280G>T	CA356738674	PHOX2B	c.472C>A (p.Arg158Ser) n.293C>A
4	g.41746281C>A	CA356738676	PHOX2B	c.471G>T (p.Glu157Asp) n.292G>T	gnomAD v4
4	g.41746281C>G	CA356738678	PHOX2B	c.471G>C (p.Glu157Asp) n.292G>C	gnomAD v4
4	g.41746281C>T	CA439143560	PHOX2B	c.471G>A (p.Glu157=) n.292G>A
4	g.41746282T>A	CA356738681	PHOX2B	c.470A>T (p.Glu157Val) n.291A>T
4	g.41746282T>C	CA356738686	PHOX2B	c.470A>G (p.Glu157Gly) n.291A>G	ClinVar
4	g.41746282T>G	CA356738684	PHOX2B	c.470A>C (p.Glu157Ala) n.291A>C
4	g.41746283C>A	CA356738689	PHOX2B	c.469G>T (p.Glu157Ter) n.290G>T
4	g.41746283C>G	CA356738691	PHOX2B	c.469G>C (p.Glu157Gln) n.290G>C	ClinVar
4	g.41746283C>T	CA356738693	PHOX2B	c.469G>A (p.Glu157Lys) n.290G>A
4	g.41746284C>A	CA356738694	PHOX2B	c.468G>T (p.Gln156His) n.289G>T	dbSNP
4	g.41746284C>G	CA356738697	PHOX2B	c.468G>C (p.Gln156His) n.289G>C
4	g.41746284C>T	CA439143570	PHOX2B	c.468G>A (p.Gln156=) n.289G>A
4	g.41746285T>A	CA356738700	PHOX2B	c.467A>T (p.Gln156Leu) n.288A>T
4	g.41746285T>C	CA356738703	PHOX2B	c.467A>G (p.Gln156Arg) n.288A>G
4	g.41746285T>G	CA356738708	PHOX2B	c.467A>C (p.Gln156Pro) n.288A>C
4	g.41746286G>A	CA356738712	PHOX2B	c.466C>T (p.Gln156Ter) n.287C>T	ClinVar
4	g.41746286G>C	CA356738714	PHOX2B	c.466C>G (p.Gln156Glu) n.287C>G	ClinVar gnomAD v4
4	g.41746286G>T	CA356738717	PHOX2B	c.466C>A (p.Gln156Lys) n.287C>A
4	g.41746287C>A	CA356738723	PHOX2B	c.465G>T (p.Lys155Asn) n.286G>T	dbSNP gnomAD v2
4	g.41746287C>G	CA356738721	PHOX2B	c.465G>C (p.Lys155Asn) n.286G>C
4	g.41746287C>T	CA2901494	PHOX2B	c.465G>A (p.Lys155=) n.286G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746288T>A	CA356738726	PHOX2B	c.464A>T (p.Lys155Met) n.285A>T
4	g.41746288T>C	CA356738728	PHOX2B	c.464A>G (p.Lys155Arg) n.285A>G
4	g.41746288T>G	CA356738731	PHOX2B	c.464A>C (p.Lys155Thr) n.285A>C
4	g.41746289T>A	CA356738734	PHOX2B	c.463A>T (p.Lys155Ter) n.284A>T
4	g.41746289T>C	CA356738737	PHOX2B	c.463A>G (p.Lys155Glu) n.284A>G
4	g.41746289T>G	CA356738740	PHOX2B	c.463A>C (p.Lys155Gln) n.284A>C
4	g.41746290G>A	CA439143593	PHOX2B	c.462C>T (p.Arg154=) n.283C>T	ClinVar
4	g.41746290G>C	CA439143595	PHOX2B	c.462C>G (p.Arg154=) n.283C>G
4	g.41746290G>T	CA439143594	PHOX2B	c.462C>A (p.Arg154=) n.283C>A
4	g.41746291C>A	CA356738744	PHOX2B	c.461G>T (p.Arg154Leu) n.282G>T	dbSNP gnomAD v4
4	g.41746291C>G	CA356738747	PHOX2B	c.461G>C (p.Arg154Pro) n.282G>C
4	g.41746291C>T	CA356738750	PHOX2B	c.461G>A (p.Arg154His) n.282G>A	COSMIC
4	g.41746292G>A	CA95828649	PHOX2B	c.460C>T (p.Arg154Cys) n.281C>T	dbSNP
4	g.41746292G>C	CA356738752	PHOX2B	c.460C>G (p.Arg154Gly) n.281C>G
4	g.41746292G>T	CA356738754	PHOX2B	c.460C>A (p.Arg154Ser) n.281C>A
4	g.41746293A>C	CA356738757	PHOX2B	c.459T>G (p.Phe153Leu) n.280T>G
4	g.41746293A>G	CA439143610	PHOX2B	c.459T>C (p.Phe153=) n.280T>C
4	g.41746293A>T	CA356738756	PHOX2B	c.459T>A (p.Phe153Leu) n.280T>A
4	g.41746294A>C	CA356738759	PHOX2B	c.458T>G (p.Phe153Cys) n.279T>G
4	g.41746294A>G	CA356738761	PHOX2B	c.458T>C (p.Phe153Ser) n.279T>C
4	g.41746294A>T	CA356738763	PHOX2B	c.458T>A (p.Phe153Tyr) n.279T>A
4	g.41746295A>C	CA356738766	PHOX2B	c.457T>G (p.Phe153Val) n.278T>G
4	g.41746295A>G	CA356738767	PHOX2B	c.457T>C (p.Phe153Leu) n.278T>C	dbSNP gnomAD v2
4	g.41746295A>T	CA356738769	PHOX2B	c.457T>A (p.Phe153Ile) n.278T>A
4	g.41746296C>A	CA356738774	PHOX2B	c.456G>T (p.Lys152Asn) n.277G>T
4	g.41746296C>G	CA356738772	PHOX2B	c.456G>C (p.Lys152Asn) n.277G>C
4	g.41746296C>T	CA439142761	PHOX2B	c.456G>A (p.Lys152=) n.277G>A
4	g.41746297T>A	CA356738776	PHOX2B	c.455A>T (p.Lys152Met) n.276A>T
4	g.41746297T>C	CA356738778	PHOX2B	c.455A>G (p.Lys152Arg) n.276A>G	ClinVar
4	g.41746297T>G	CA356738780	PHOX2B	c.455A>C (p.Lys152Thr) n.276A>C
4	g.41746298T>A	CA356738782	PHOX2B	c.454A>T (p.Lys152Ter) n.275A>T
4	g.41746298T>C	CA356738783	PHOX2B	c.454A>G (p.Lys152Glu) n.275A>G
4	g.41746298T>G	CA356738785	PHOX2B	c.454A>C (p.Lys152Gln) n.275A>C
4	g.41746299G>A	CA439142764	PHOX2B	c.453C>T (p.Ala151=) n.274C>T	ClinVar dbSNP
4	g.41746299G>C	CA439142765	PHOX2B	c.453C>G (p.Ala151=) n.274C>G
4	g.41746299G>T	CA439142766	PHOX2B	c.453C>A (p.Ala151=) n.274C>A	ClinVar
4	g.41746300G>A	CA356738790	PHOX2B	c.452C>T (p.Ala151Val) n.273C>T	ClinVar
4	g.41746300G>C	CA356738786	PHOX2B	c.452C>G (p.Ala151Gly) n.273C>G
4	g.41746300G>T	CA356738788	PHOX2B	c.452C>A (p.Ala151Asp) n.273C>A
4	g.41746301C>A	CA356738792	PHOX2B	c.451G>T (p.Ala151Ser) n.272G>T
4	g.41746301C>G	CA356738794	PHOX2B	c.451G>C (p.Ala151Pro) n.272G>C
4	g.41746301C>T	CA356738795	PHOX2B	c.451G>A (p.Ala151Thr) n.272G>A	gnomAD v4 COSMIC
4	g.41746302G>A	CA439142770	PHOX2B	c.450C>T (p.Arg150=) n.271C>T	ClinVar dbSNP gnomAD v4
4	g.41746302G>C	CA2901495	PHOX2B	c.450C>G (p.Arg150=) n.271C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746302G>T	CA439142771	PHOX2B	c.450C>A (p.Arg150=) n.271C>A	ClinVar dbSNP
4	g.41746303C>A	CA356738799	PHOX2B	c.449G>T (p.Arg150Leu) n.270G>T
4	g.41746303C>G	CA356738801	PHOX2B	c.449G>C (p.Arg150Pro) n.270G>C
4	g.41746303C>T	CA356738803	PHOX2B	c.449G>A (p.Arg150His) n.270G>A	gnomAD v4
4	g.41746304G>A	CA356738805	PHOX2B	c.448C>T (p.Arg150Cys) n.269C>T
4	g.41746304G>C	CA356738807	PHOX2B	c.448C>G (p.Arg150Gly) n.269C>G
4	g.41746304G>T	CA356738808	PHOX2B	c.448C>A (p.Arg150Ser) n.269C>A
4	g.41746305G>A	CA439142774	PHOX2B	c.447C>T (p.Arg149=) n.268C>T
4	g.41746305G>C	CA439142775	PHOX2B	c.447C>G (p.Arg149=) n.268C>G
4	g.41746305G>T	CA439142777	PHOX2B	c.447C>A (p.Arg149=) n.268C>A
4	g.41746305_41746306delinsAA	CA2586973825	PHOX2B	c.446_447delinsTT (p.Arg149Leu) n.267_268delinsTT
4	g.41746306C>A	CA356738810	PHOX2B	c.446G>T (p.Arg149Leu) n.267G>T	ClinVar dbSNP
4	g.41746306C>G	CA356738812	PHOX2B	c.446G>C (p.Arg149Pro) n.267G>C
4	g.41746306C>T	CA356738814	PHOX2B	c.446G>A (p.Arg149His) n.267G>A	ClinVar
4	g.41746307G>A	CA356738815	PHOX2B	c.445C>T (p.Arg149Cys) n.266C>T
4	g.41746307G>C	CA356738818	PHOX2B	c.445C>G (p.Arg149Gly) n.266C>G	ClinVar dbSNP
4	g.41746307G>T	CA356738816	PHOX2B	c.445C>A (p.Arg149Ser) n.266C>A
4	g.41746308G>A	CA439142780	PHOX2B	c.444C>T (p.Asn148=) n.265C>T
4	g.41746308G>C	CA356738820	PHOX2B	c.444C>G (p.Asn148Lys) n.265C>G
4	g.41746308G>T	CA356738822	PHOX2B	c.444C>A (p.Asn148Lys) n.265C>A
4	g.41746309T>A	CA356738823	PHOX2B	c.443A>T (p.Asn148Ile) n.264A>T
4	g.41746309T>C	CA356738825	PHOX2B	c.443A>G (p.Asn148Ser) n.264A>G	COSMIC
4	g.41746309T>G	CA356738827	PHOX2B	c.443A>C (p.Asn148Thr) n.264A>C
4	g.41746310T>A	CA356738829	PHOX2B	c.442A>T (p.Asn148Tyr) n.263A>T
4	g.41746310T>C	CA356738831	PHOX2B	c.442A>G (p.Asn148Asp) n.263A>G
4	g.41746310T>G	CA356738833	PHOX2B	c.442A>C (p.Asn148His) n.263A>C
4	g.41746311C>A	CA356738834	PHOX2B	c.441G>T (p.Gln147His) n.262G>T
4	g.41746311C>G	CA356738835	PHOX2B	c.441G>C (p.Gln147His) n.262G>C
4	g.41746311C>T	CA439142785	PHOX2B	c.441G>A (p.Gln147=) n.262G>A
4	g.41746312T>A	CA356738837	PHOX2B	c.440A>T (p.Gln147Leu) n.261A>T
4	g.41746312T>C	CA356738839	PHOX2B	c.440A>G (p.Gln147Arg) n.261A>G	ClinVar dbSNP
4	g.41746312T>G	CA356738841	PHOX2B	c.440A>C (p.Gln147Pro) n.261A>C
4	g.41746313G>A	CA356738844	PHOX2B	c.439C>T (p.Gln147Ter) n.260C>T
4	g.41746313G>C	CA356738847	PHOX2B	c.439C>G (p.Gln147Glu) n.260C>G
4	g.41746313G>T	CA356738846	PHOX2B	c.439C>A (p.Gln147Lys) n.260C>A
4	g.41746314G>A	CA439142789	PHOX2B	c.438C>T (p.Phe146=) n.259C>T	dbSNP
4	g.41746314G>C	CA356738849	PHOX2B	c.438C>G (p.Phe146Leu) n.259C>G
4	g.41746314G>T	CA356738853	PHOX2B	c.438C>A (p.Phe146Leu) n.259C>A
4	g.41746315A>C	CA356738855	PHOX2B	c.437T>G (p.Phe146Cys) n.258T>G	COSMIC
4	g.41746315A>G	CA356738857	PHOX2B	c.437T>C (p.Phe146Ser) n.258T>C
4	g.41746315A>T	CA356738858	PHOX2B	c.437T>A (p.Phe146Tyr) n.258T>A
4	g.41746316A>C	CA356738859	PHOX2B	c.436T>G (p.Phe146Val) n.257T>G
4	g.41746316A>G	CA356738861	PHOX2B	c.436T>C (p.Phe146Leu) n.257T>C
4	g.41746316A>T	CA356738863	PHOX2B	c.436T>A (p.Phe146Ile) n.257T>A
4	g.41746317C>A	CA356738865	PHOX2B	c.435G>T (p.Trp145Cys) n.256G>T
4	g.41746317C>G	CA356738867	PHOX2B	c.435G>C (p.Trp145Cys) n.256G>C
4	g.41746317C>T	CA356738869	PHOX2B	c.435G>A (p.Trp145Ter) n.256G>A
4	g.41746318C>A	CA356738874	PHOX2B	c.434G>T (p.Trp145Leu) n.255G>T
4	g.41746318C>G	CA356738873	PHOX2B	c.434G>C (p.Trp145Ser) n.255G>C
4	g.41746318C>T	CA356738871	PHOX2B	c.434G>A (p.Trp145Ter) n.255G>A
4	g.41746319A>C	CA356738879	PHOX2B	c.433T>G (p.Trp145Gly) n.254T>G
4	g.41746319A>G	CA356738877	PHOX2B	c.433T>C (p.Trp145Arg) n.254T>C
4	g.41746319A>T	CA356738880	PHOX2B	c.433T>A (p.Trp145Arg) n.254T>A
4	g.41746319_41746320delinsGA	CA2580071017	PHOX2B	c.432_433delinsTC (p.Trp145Arg) n.253_254delinsTC	ClinVar
4	g.41746320C>A	CA439142790	PHOX2B	c.432G>T (p.Val144=) n.253G>T	COSMIC
4	g.41746320C>G	CA439142791	PHOX2B	c.432G>C (p.Val144=) n.253G>C
4	g.41746320C>T	CA439142794	PHOX2B	c.432G>A (p.Val144=) n.253G>A	gnomAD v4
4	g.41746321A>C	CA356738882	PHOX2B	c.431T>G (p.Val144Gly) n.252T>G
4	g.41746321A>G	CA356738886	PHOX2B	c.431T>C (p.Val144Ala) n.252T>C
4	g.41746321A>T	CA356738884	PHOX2B	c.431T>A (p.Val144Glu) n.252T>A
4	g.41746322C>A	CA356738888	PHOX2B	c.430G>T (p.Val144Leu) n.251G>T
4	g.41746322C>G	CA356738891	PHOX2B	c.430G>C (p.Val144Leu) n.251G>C
4	g.41746322C>T	CA356738889	PHOX2B	c.430G>A (p.Val144Met) n.251G>A
4	g.41746323C>A	CA356738894	PHOX2B	c.430-1G>T (n.430-1G>T) n.251-1G>T
4	g.41746323C>G	CA356738895	PHOX2B	c.430-1G>C (n.430-1G>C) n.251-1G>C
4	g.41746323C>T	CA356738896	PHOX2B	c.430-1G>A (n.430-1G>A) n.251-1G>A
4	g.41746324T>A	CA356738898	PHOX2B	c.430-2A>T (n.430-2A>T) n.251-2A>T
4	g.41746324T>C	CA356738900	PHOX2B	c.430-2A>G (n.430-2A>G) n.251-2A>G	ClinVar dbSNP
4	g.41746324T>G	CA356738902	PHOX2B	c.430-2A>C (n.430-2A>C) n.251-2A>C
4	g.41746325G>A	CA2580071018	PHOX2B	c.430-3C>T (n.430-3C>T) n.251-3C>T	ClinVar gnomAD v4
4	g.41746326G>A	CA2670427178	PHOX2B	c.430-4C>T (n.430-4C>T) n.251-4C>T	gnomAD v4
4	g.41746326G>T	CA2670427179	PHOX2B	c.430-4C>A (n.430-4C>A) n.251-4C>A	gnomAD v4
4	g.41746327C>G	CA2670427180	PHOX2B	c.430-5G>C (n.430-5G>C) n.251-5G>C	gnomAD v4
4	g.41746327C>T	CA2901496	PHOX2B	c.430-5G>A (n.430-5G>A) n.251-5G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746328C>G	CA95828659	PHOX2B	c.430-6G>C (n.430-6G>C) n.251-6G>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.41746329C>G	CA2580071019	PHOX2B	c.430-7G>C (n.430-7G>C) n.251-7G>C	ClinVar gnomAD v4
4	g.41746329C>T	CA2580071020	PHOX2B	c.430-7G>A (n.430-7G>A) n.251-7G>A	ClinVar
4	g.41746330A>C	CA2499217212	PHOX2B	c.430-8T>G (n.430-8T>G) n.251-8T>G	ClinVar dbSNP gnomAD v4
4	g.41746330A>G	CA2499217213	PHOX2B	c.430-8T>C (n.430-8T>C) n.251-8T>C	ClinVar dbSNP gnomAD v4
4	g.41746333A>G	CA2578074978	PHOX2B	c.430-11T>C (n.430-11T>C) n.251-11T>C	ClinVar
4	g.41746334C>T	CA794915167	PHOX2B	c.430-12G>A (n.430-12G>A) n.251-12G>A	ClinVar dbSNP gnomAD v4
4	g.41746335G>A	CA2580071021	PHOX2B	c.430-13C>T (n.430-13C>T) n.251-13C>T	ClinVar gnomAD v4
4	g.41746335G>C	CA2901497	PHOX2B	c.430-13C>G (n.430-13C>G) n.251-13C>G	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.41746336G>T	CA2670427181	PHOX2B	c.430-14C>A (n.430-14C>A) n.251-14C>A	gnomAD v4

Number of alleles fetched