Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.47448084G>A	CA5976772	RAPSN	c.259C>T (p.Leu87=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47448084G>C	CA380334874	RAPSN	c.259C>G (p.Leu87Val)	gnomAD v4
11	g.47448084G=	CA1969378576	RAPSN	c.259C= (p.Leu87=)
11	g.47448084G>T	CA380334875	RAPSN	c.259C>A (p.Leu87Met)
11	g.47448085G>A	CA474430522	RAPSN	c.258C>T (p.Tyr86=)	ClinVar COSMIC
11	g.47448085G>C	CA380334876	RAPSN	c.258C>G (p.Tyr86Ter)
11	g.47448085G>T	CA380334877	RAPSN	c.258C>A (p.Tyr86Ter)
11	g.47448086T>A	CA380334881	RAPSN	c.257A>T (p.Tyr86Phe)
11	g.47448086T>C	CA380334883	RAPSN	c.257A>G (p.Tyr86Cys)
11	g.47448086T>G	CA380334887	RAPSN	c.257A>C (p.Tyr86Ser)
11	g.47448087A=	CA1969378583	RAPSN	c.256T= (p.Tyr86=)
11	g.47448087A>C	CA380334889	RAPSN	c.256T>G (p.Tyr86Asp)
11	g.47448087A>G	CA5976773	RAPSN	c.256T>C (p.Tyr86His)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47448087A>T	CA380334898	RAPSN	c.256T>A (p.Tyr86Asn)
11	g.47448088G>A	CA474430524	RAPSN	c.255C>T (p.Ser85=)
11	g.47448088G>C	CA380334900	RAPSN	c.255C>G (p.Ser85Arg)
11	g.47448088G>T	CA380334904	RAPSN	c.255C>A (p.Ser85Arg)
11	g.47448089C>A	CA380334907	RAPSN	c.254G>T (p.Ser85Ile)
11	g.47448089C=	CA1969378588	RAPSN	c.254G= (p.Ser85=)
11	g.47448089C>G	CA380334909	RAPSN	c.254G>C (p.Ser85Thr)	dbSNP
11	g.47448089C>T	CA380334916	RAPSN	c.254G>A (p.Ser85Asn)
11	g.47448090T>A	CA380334920	RAPSN	c.253A>T (p.Ser85Cys)
11	g.47448090T>C	CA380334922	RAPSN	c.253A>G (p.Ser85Gly)
11	g.47448090T>G	CA380334933	RAPSN	c.253A>C (p.Ser85Arg)
11	g.47448091C>A	CA380334935	RAPSN	c.252G>T (p.Glu84Asp)
11	g.47448091C>G	CA380334937	RAPSN	c.252G>C (p.Glu84Asp)
11	g.47448091C>T	CA474430526	RAPSN	c.252G>A (p.Glu84=)
11	g.47448092T>A	CA380334939	RAPSN	c.251A>T (p.Glu84Val)
11	g.47448092T>C	CA380334941	RAPSN	c.251A>G (p.Glu84Gly)
11	g.47448092T>G	CA380334945	RAPSN	c.251A>C (p.Glu84Ala)	ClinVar dbSNP gnomAD v4
11	g.47448093C>A	CA380334957	RAPSN	c.250G>T (p.Glu84Ter)
11	g.47448093C=	CA1969378591	RAPSN	c.250G= (p.Glu84=)
11	g.47448093C>G	CA380334958	RAPSN	c.250G>C (p.Glu84Gln)	dbSNP gnomAD v3 gnomAD v4
11	g.47448093C>T	CA380334959	RAPSN	c.250G>A (p.Glu84Lys)	dbSNP gnomAD v4
11	g.47448093_47448094insACCGTCCTTGGA	CA1969378594	RAPSN	c.249_250insTCCAAGGACGGT (p.Leu83_Glu84insSerLysAspGly)	dbSNP
11	g.47448094C>A	CA474430530	RAPSN	c.249G>T (p.Leu83=)
11	g.47448094C=	CA1969378595	RAPSN	c.249G= (p.Leu83=)
11	g.47448094C>G	CA474430531	RAPSN	c.249G>C (p.Leu83=)
11	g.47448094C>T	CA474430532	RAPSN	c.249G>A (p.Leu83=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448095A=	CA1969378598	RAPSN	c.248T= (p.Leu83=)
11	g.47448095A>C	CA380334960	RAPSN	c.248T>G (p.Leu83Arg)
11	g.47448095A>G	CA380334961	RAPSN	c.248T>C (p.Leu83Pro)	dbSNP gnomAD v3 gnomAD v4
11	g.47448095A>T	CA380334962	RAPSN	c.248T>A (p.Leu83Gln)	ClinVar dbSNP gnomAD v4
11	g.47448096G>A	CA474430533	RAPSN	c.247C>T (p.Leu83=)
11	g.47448096G>C	CA380334964	RAPSN	c.247C>G (p.Leu83Val)
11	g.47448096G=	CA1969378601	RAPSN	c.247C= (p.Leu83=)
11	g.47448096G>T	CA380334966	RAPSN	c.247C>A (p.Leu83Met)	dbSNP
11	g.47448096_47448097insCGGGGCAGCCTTCTGCCACGCATC	CA1969378609	RAPSN	c.246_247insGATGCGTGGCAGAAGGCTGCCCCG (p.Leu82_Leu83insAspAlaTrpGlnLysAlaAlaPro)	dbSNP
11	g.47448097G>A	CA5976774	RAPSN	c.246C>T (p.Leu82=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448097G>C	CA5976775	RAPSN	c.246C>G (p.Leu82=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47448097G=	CA1969378610	RAPSN	c.246C= (p.Leu82=)
11	g.47448097G>T	CA474430538	RAPSN	c.246C>A (p.Leu82=)
11	g.47448098A=	CA1969378613	RAPSN	c.245T= (p.Leu82=)
11	g.47448098A>C	CA380335003	RAPSN	c.245T>G (p.Leu82Arg)
11	g.47448098A>G	CA380335004	RAPSN	c.245T>C (p.Leu82Pro)	ClinVar
11	g.47448098A>T	CA380335001	RAPSN	c.245T>A (p.Leu82His)
11	g.47448098_47448099insTCGCCTGC	CA1969378617	RAPSN	c.244_245insGCAGGCGA (p.Leu82ArgfsTer9)	dbSNP
11	g.47448099G>A	CA380335012	RAPSN	c.244C>T (p.Leu82Phe)
11	g.47448099G>C	CA380335018	RAPSN	c.244C>G (p.Leu82Val)
11	g.47448099G>T	CA380335015	RAPSN	c.244C>A (p.Leu82Ile)
11	g.47448100G>A	CA474430540	RAPSN	c.243C>T (p.Phe81=)	COSMIC
11	g.47448100G>C	CA380335020	RAPSN	c.243C>G (p.Phe81Leu)
11	g.47448100G=	CA1969378619	RAPSN	c.243C= (p.Phe81=)
11	g.47448100G>T	CA380335026	RAPSN	c.243C>A (p.Phe81Leu)
11	g.47448100_47448101insCACCTGGTCGGAGTAGTAGT	CA1969378620	RAPSN	c.242_243insACTACTACTCCGACCAGGTG (p.Phe81LeufsTer14)	dbSNP
11	g.47448101A>C	CA380335029	RAPSN	c.242T>G (p.Phe81Cys)
11	g.47448101A>G	CA380335035	RAPSN	c.242T>C (p.Phe81Ser)
11	g.47448101A>T	CA380335037	RAPSN	c.242T>A (p.Phe81Tyr)
11	g.47448102A=	CA1969378626	RAPSN	c.241T= (p.Phe81=)
11	g.47448102A>C	CA380335041	RAPSN	c.241T>G (p.Phe81Val)
11	g.47448102A>G	CA5976776	RAPSN	c.241T>C (p.Phe81Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448102A>T	CA380335045	RAPSN	c.241T>A (p.Phe81Ile)
11	g.47448103G>A	CA474430542	RAPSN	c.240C>T (p.Asp80=)	gnomAD v4
11	g.47448103G>C	CA380335048	RAPSN	c.240C>G (p.Asp80Glu)
11	g.47448103G>T	CA380335057	RAPSN	c.240C>A (p.Asp80Glu)	gnomAD v4
11	g.47448104T>A	CA380335063	RAPSN	c.239A>T (p.Asp80Val)
11	g.47448104T>C	CA380335067	RAPSN	c.239A>G (p.Asp80Gly)
11	g.47448104T>G	CA380335074	RAPSN	c.239A>C (p.Asp80Ala)
11	g.47448107_47448108insTCTCGG	CA2791335802	RAPSN	c.239_240insGACCGA (p.Ala79_Asp80insGluThr)
11	g.47448105C>A	CA380335079	RAPSN	c.238G>T (p.Asp80Tyr)
11	g.47448105C=	CA1969378631	RAPSN	c.238G= (p.Asp80=)
11	g.47448105C>G	CA380335078	RAPSN	c.238G>C (p.Asp80His)	COSMIC
11	g.47448105C>T	CA5976777	RAPSN	c.238G>A (p.Asp80Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.47448106G>A	CA221722344	RAPSN	c.237C>T (p.Ala79=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448106G>C	CA474430545	RAPSN	c.237C>G (p.Ala79=)	gnomAD v4
11	g.47448106G=	CA1969378633	RAPSN	c.237C= (p.Ala79=)
11	g.47448106G>T	CA474430544	RAPSN	c.237C>A (p.Ala79=)
11	g.47448107G>A	CA380335080	RAPSN	c.236C>T (p.Ala79Val)
11	g.47448107G>C	CA380335081	RAPSN	c.236C>G (p.Ala79Gly)	gnomAD v4
11	g.47448107G>T	CA380335083	RAPSN	c.236C>A (p.Ala79Asp)
11	g.47448108C>A	CA380335085	RAPSN	c.235G>T (p.Ala79Ser)
11	g.47448108C>G	CA380335088	RAPSN	c.235G>C (p.Ala79Pro)
11	g.47448108C>T	CA380335090	RAPSN	c.235G>A (p.Ala79Thr)
11	g.47448109A=	CA1969378635	RAPSN	c.234T= (p.Asp78=)
11	g.47448109A>C	CA380335093	RAPSN	c.234T>G (p.Asp78Glu)	dbSNP gnomAD v2 gnomAD v4
11	g.47448109A>G	CA474430549	RAPSN	c.234T>C (p.Asp78=)
11	g.47448109A>T	CA380335095	RAPSN	c.234T>A (p.Asp78Glu)
11	g.47448110T>A	CA221722350	RAPSN	c.233A>T (p.Asp78Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.47448110T>C	CA380335100	RAPSN	c.233A>G (p.Asp78Gly)
11	g.47448110T>G	CA380335105	RAPSN	c.233A>C (p.Asp78Ala)
11	g.47448110T=	CA1969378639	RAPSN	c.233A= (p.Asp78=)
11	g.47448111C>A	CA380335112	RAPSN	c.232G>T (p.Asp78Tyr)	dbSNP gnomAD v3 gnomAD v4
11	g.47448111C=	CA1969378642	RAPSN	c.232G= (p.Asp78=)
11	g.47448111C>G	CA380335109	RAPSN	c.232G>C (p.Asp78His)
11	g.47448111C>T	CA380335107	RAPSN	c.232G>A (p.Asp78Asn)	ClinVar dbSNP gnomAD v4
11	g.47448112C>A	CA380335115	RAPSN	c.231G>T (p.Glu77Asp)
11	g.47448112C>G	CA380335118	RAPSN	c.231G>C (p.Glu77Asp)
11	g.47448112C>T	CA474430552	RAPSN	c.231G>A (p.Glu77=)
11	g.47448113T>A	CA380335123	RAPSN	c.230A>T (p.Glu77Val)	gnomAD v4
11	g.47448113T>C	CA380335125	RAPSN	c.230A>G (p.Glu77Gly)
11	g.47448113T>G	CA380335127	RAPSN	c.230A>C (p.Glu77Ala)
11	g.47448114C>A	CA380335132	RAPSN	c.229G>T (p.Glu77Ter)
11	g.47448114C=	CA1969378648	RAPSN	c.229G= (p.Glu77=)
11	g.47448114C>G	CA380335135	RAPSN	c.229G>C (p.Glu77Gln)
11	g.47448114C>T	CA380335139	RAPSN	c.229G>A (p.Glu77Lys)	dbSNP gnomAD v2
11	g.47448115C>A	CA474430556	RAPSN	c.228G>T (p.Leu76=)
11	g.47448115C>G	CA474430554	RAPSN	c.228G>C (p.Leu76=)
11	g.47448115C>T	CA474430555	RAPSN	c.228G>A (p.Leu76=)	ClinVar dbSNP gnomAD v4
11	g.47448116A>C	CA380335145	RAPSN	c.227T>G (p.Leu76Arg)
11	g.47448116A>G	CA380335147	RAPSN	c.227T>C (p.Leu76Pro)	gnomAD v4
11	g.47448116A>T	CA380335149	RAPSN	c.227T>A (p.Leu76Gln)
11	g.47448117G>A	CA474430558	RAPSN	c.226C>T (p.Leu76=)	ClinVar gnomAD v4
11	g.47448117G>C	CA380335154	RAPSN	c.226C>G (p.Leu76Val)
11	g.47448117G>T	CA380335157	RAPSN	c.226C>A (p.Leu76Met)	gnomAD v4
11	g.47448118C>A	CA380335168	RAPSN	c.225G>T (p.Glu75Asp)
11	g.47448118C=	CA1969378649	RAPSN	c.225G= (p.Glu75=)
11	g.47448118C>G	CA380335174	RAPSN	c.225G>C (p.Glu75Asp)
11	g.47448118C>T	CA5976778	RAPSN	c.225G>A (p.Glu75=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448119del	CA2724182691	RAPSN	c.224del (p.Glu75GlyfsTer13)	dbSNP
11	g.47448119T>A	CA380335180	RAPSN	c.224A>T (p.Glu75Val)
11	g.47448119T>C	CA380335183	RAPSN	c.224A>G (p.Glu75Gly)
11	g.47448119T>G	CA380335184	RAPSN	c.224A>C (p.Glu75Ala)
11	g.47448120C>A	CA380335188	RAPSN	c.223G>T (p.Glu75Ter)
11	g.47448120C>G	CA380335190	RAPSN	c.223G>C (p.Glu75Gln)
11	g.47448120C>T	CA380335198	RAPSN	c.223G>A (p.Glu75Lys)	COSMIC
11	g.47448121C>A	CA474430561	RAPSN	c.222G>T (p.Arg74=)
11	g.47448121C>G	CA474430562	RAPSN	c.222G>C (p.Arg74=)
11	g.47448121C>T	CA474430563	RAPSN	c.222G>A (p.Arg74=)	gnomAD v4
11	g.47448122C>A	CA380335201	RAPSN	c.221G>T (p.Arg74Leu)
11	g.47448122C=	CA1969378654	RAPSN	c.221G= (p.Arg74=)
11	g.47448122C>G	CA380335204	RAPSN	c.221G>C (p.Arg74Pro)
11	g.47448122C>T	CA5976779	RAPSN	c.221G>A (p.Arg74Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448123G>A	CA5976780	RAPSN	c.220C>T (p.Arg74Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448123G>C	CA380335210	RAPSN	c.220C>G (p.Arg74Gly)
11	g.47448123G=	CA1969378661	RAPSN	c.220C= (p.Arg74=)
11	g.47448123G>T	CA474430564	RAPSN	c.220C>A (p.Arg74=)	gnomAD v4
11	g.47448124G>A	CA474430565	RAPSN	c.219C>T (p.Ala73=)
11	g.47448124G>C	CA474430566	RAPSN	c.219C>G (p.Ala73=)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.47448124G=	CA1969378664	RAPSN	c.219C= (p.Ala73=)
11	g.47448124G>T	CA474430567	RAPSN	c.219C>A (p.Ala73=)
11	g.47448125G>A	CA380335217	RAPSN	c.218C>T (p.Ala73Val)	gnomAD v4
11	g.47448125G>C	CA380335221	RAPSN	c.218C>G (p.Ala73Gly)
11	g.47448125G>T	CA380335213	RAPSN	c.218C>A (p.Ala73Asp)
11	g.47448126C>A	CA380335223	RAPSN	c.217G>T (p.Ala73Ser)
11	g.47448126C>G	CA380335227	RAPSN	c.217G>C (p.Ala73Pro)
11	g.47448126C>T	CA380335236	RAPSN	c.217G>A (p.Ala73Thr)	gnomAD v4 COSMIC
11	g.47448127C>A	CA474430571	RAPSN	c.216G>T (p.Thr72=)
11	g.47448127C=	CA1969378670	RAPSN	c.216G= (p.Thr72=)
11	g.47448127C>G	CA474430572	RAPSN	c.216G>C (p.Thr72=)	dbSNP gnomAD v2 gnomAD v4
11	g.47448127C>T	CA5976781	RAPSN	c.216G>A (p.Thr72=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448128G>A	CA5976782	RAPSN	c.215C>T (p.Thr72Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448128G>C	CA380335255	RAPSN	c.215C>G (p.Thr72Arg)
11	g.47448128G=	CA1969378675	RAPSN	c.215C= (p.Thr72=)
11	g.47448128G>T	CA380335257	RAPSN	c.215C>A (p.Thr72Lys)	gnomAD v4
11	g.47448129T>A	CA380335261	RAPSN	c.214A>T (p.Thr72Ser)
11	g.47448129T>C	CA380335267	RAPSN	c.214A>G (p.Thr72Ala)	dbSNP gnomAD v2 gnomAD v4
11	g.47448129T>G	CA380335263	RAPSN	c.214A>C (p.Thr72Pro)	gnomAD v4
11	g.47448129T=	CA1969378682	RAPSN	c.214A= (p.Thr72=)
11	g.47448130G>A	CA474430573	RAPSN	c.213C>T (p.Asp71=)
11	g.47448130G>C	CA380335271	RAPSN	c.213C>G (p.Asp71Glu)
11	g.47448130G>T	CA380335273	RAPSN	c.213C>A (p.Asp71Glu)	gnomAD v4
11	g.47448131T>A	CA380335276	RAPSN	c.212A>T (p.Asp71Val)
11	g.47448131T>C	CA380335279	RAPSN	c.212A>G (p.Asp71Gly)
11	g.47448131T>G	CA380335282	RAPSN	c.212A>C (p.Asp71Ala)
11	g.47448132C>A	CA380335292	RAPSN	c.211G>T (p.Asp71Tyr)	gnomAD v4
11	g.47448132C=	CA1969378687	RAPSN	c.211G= (p.Asp71=)
11	g.47448132C>G	CA380335297	RAPSN	c.211G>C (p.Asp71His)	dbSNP gnomAD v2 gnomAD v4
11	g.47448132C>T	CA221722376	RAPSN	c.211G>A (p.Asp71Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.47448132_47448133delinsCG	CA1969378685	RAPSN	c.210_211delinsCG (p.Ile70=)
11	g.47448133del	CA5976783	RAPSN	c.210del (p.Ile70MetfsTer18)	ClinVar dbSNP ExAC
11	g.47448133G>A	CA5976784	RAPSN	c.210C>T (p.Ile70=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11	g.47448133G>C	CA380335302	RAPSN	c.210C>G (p.Ile70Met)	dbSNP gnomAD v4
11	g.47448133G=	CA1969378690	RAPSN	c.210C= (p.Ile70=)
11	g.47448133G>T	CA474430575	RAPSN	c.210C>A (p.Ile70=)	ClinVar gnomAD v4
11	g.47448134del	CA380335317	RAPSN	c.209del (p.Ile70ThrfsTer18)
11	g.47448134A>C	CA380335307	RAPSN	c.209T>G (p.Ile70Ser)
11	g.47448134A>G	CA380335311	RAPSN	c.209T>C (p.Ile70Thr)
11	g.47448134A>T	CA380335313	RAPSN	c.209T>A (p.Ile70Asn)
11	g.47448135T>A	CA380335320	RAPSN	c.208A>T (p.Ile70Phe)
11	g.47448135T>C	CA380335323	RAPSN	c.208A>G (p.Ile70Val)	gnomAD v4
11	g.47448135T>G	CA380335326	RAPSN	c.208A>C (p.Ile70Leu)
11	g.47448136C>A	CA380335329	RAPSN	c.207G>T (p.Gln69His)
11	g.47448136C=	CA1969378693	RAPSN	c.207G= (p.Gln69=)
11	g.47448136C>G	CA380335332	RAPSN	c.207G>C (p.Gln69His)	dbSNP gnomAD v3 gnomAD v4
11	g.47448136C>T	CA474430577	RAPSN	c.207G>A (p.Gln69=)	gnomAD v4
11	g.47448137T>A	CA380335342	RAPSN	c.206A>T (p.Gln69Leu)
11	g.47448137T>C	CA10605840	RAPSN	c.206A>G (p.Gln69Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448137T>G	CA380335343	RAPSN	c.206A>C (p.Gln69Pro)
11	g.47448137T=	CA1969378696	RAPSN	c.206A= (p.Gln69=)
11	g.47448138G>A	CA380335347	RAPSN	c.205C>T (p.Gln69Ter)
11	g.47448138G>C	CA380335350	RAPSN	c.205C>G (p.Gln69Glu)	ClinVar dbSNP
11	g.47448138G=	CA1969378702	RAPSN	c.205C= (p.Gln69=)
11	g.47448138G>T	CA380335356	RAPSN	c.205C>A (p.Gln69Lys)	gnomAD v4
11	g.47448139G>A	CA474430579	RAPSN	c.204C>T (p.Val68=)
11	g.47448139G>C	CA474430580	RAPSN	c.204C>G (p.Val68=)
11	g.47448139G=	CA1969378706	RAPSN	c.204C= (p.Val68=)
11	g.47448139G>T	CA5976785	RAPSN	c.204C>A (p.Val68=)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47448140A>C	CA380335360	RAPSN	c.203T>G (p.Val68Gly)
11	g.47448140A>G	CA380335363	RAPSN	c.203T>C (p.Val68Ala)
11	g.47448140A>T	CA380335364	RAPSN	c.203T>A (p.Val68Asp)
11	g.47448140_47448141delinsAC	CA1969378708	RAPSN	c.202_203delinsGT (p.Val68=)
11	g.47448141C>A	CA380335365	RAPSN	c.202G>T (p.Val68Phe)
11	g.47448141C=	CA1969378710	RAPSN	c.202G= (p.Val68=)
11	g.47448141C>G	CA380335367	RAPSN	c.202G>C (p.Val68Leu)
11	g.47448141C>T	CA5976786	RAPSN	c.202G>A (p.Val68Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448142del	CA937669747	RAPSN	c.202del (p.Val68SerfsTer20)	dbSNP gnomAD v3 gnomAD v4
11	g.47448141_47448155delinsCCACAGCGAACTGCA	CA1969378713	RAPSN	c.193-5_202delinsTGCAGTTCGCTGTGG
11	g.47448142C>A	CA474430582	RAPSN	c.201G>T (p.Val67=)
11	g.47448142C=	CA1969378720	RAPSN	c.201G= (p.Val67=)
11	g.47448142C>G	CA474430584	RAPSN	c.201G>C (p.Val67=)
11	g.47448142C>T	CA474430583	RAPSN	c.201G>A (p.Val67=)	dbSNP gnomAD v2 gnomAD v4
11	g.47448150_47448163dup	CA1969378719	RAPSN	c.193-5_201dup	dbSNP
11	g.47448150_47448163del	CA1969378718	RAPSN	c.193-5_201del	ClinVar dbSNP
11	g.47448143A>C	CA380335375	RAPSN	c.200T>G (p.Val67Gly)
11	g.47448143A>G	CA380335377	RAPSN	c.200T>C (p.Val67Ala)
11	g.47448143A>T	CA380335381	RAPSN	c.200T>A (p.Val67Glu)
11	g.47448144C>A	CA380335399	RAPSN	c.199G>T (p.Val67Leu)
11	g.47448144C=	CA1969378723	RAPSN	c.199G= (p.Val67=)
11	g.47448144C>G	CA380335391	RAPSN	c.199G>C (p.Val67Leu)
11	g.47448144C>T	CA5976787	RAPSN	c.199G>A (p.Val67Met)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47448145A=	CA1969378729	RAPSN	c.198T= (p.Ala66=)
11	g.47448145A>C	CA5976788	RAPSN	c.198T>G (p.Ala66=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47448145A>G	CA221722425	RAPSN	c.198T>C (p.Ala66=)	dbSNP gnomAD v4
11	g.47448145A>T	CA474430587	RAPSN	c.198T>A (p.Ala66=)
11	g.47448146G>A	CA380335412	RAPSN	c.197C>T (p.Ala66Val)
11	g.47448146G>C	CA380335423	RAPSN	c.197C>G (p.Ala66Gly)
11	g.47448146G>T	CA380335428	RAPSN	c.197C>A (p.Ala66Asp)	gnomAD v4
11	g.47448147C>A	CA380335431	RAPSN	c.196G>T (p.Ala66Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448147C=	CA1969378732	RAPSN	c.196G= (p.Ala66=)
11	g.47448147C>G	CA380335435	RAPSN	c.196G>C (p.Ala66Pro)
11	g.47448147C>T	CA5976789	RAPSN	c.196G>A (p.Ala66Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448148G>A	CA5976790	RAPSN	c.195C>T (p.Phe65=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.47448148G>C	CA380335443	RAPSN	c.195C>G (p.Phe65Leu)
11	g.47448148G=	CA1969378736	RAPSN	c.195C= (p.Phe65=)
11	g.47448148G>T	CA380335444	RAPSN	c.195C>A (p.Phe65Leu)	gnomAD v4
11	g.47448149A>C	CA380335447	RAPSN	c.194T>G (p.Phe65Cys)
11	g.47448149A>G	CA380335454	RAPSN	c.194T>C (p.Phe65Ser)
11	g.47448149A>T	CA380335451	RAPSN	c.194T>A (p.Phe65Tyr)
11	g.47448150A>C	CA380335456	RAPSN	c.193T>G (p.Phe65Val)
11	g.47448150A>G	CA380335461	RAPSN	c.193T>C (p.Phe65Leu)	gnomAD v4
11	g.47448150A>T	CA380335459	RAPSN	c.193T>A (p.Phe65Ile)
11	g.47448156_47448221del	CA2613408250	RAPSN	c.193-65_193del	gnomAD v4
11	g.47448151C>A	CA380335465	RAPSN	c.193-1G>T (n.193-1G>T)
11	g.47448151C=	CA1969378739	RAPSN	c.193-1G= (n.193-1G=)
11	g.47448151C>G	CA380335471	RAPSN	c.193-1G>C (n.193-1G>C)
11	g.47448151C>T	CA380335467	RAPSN	c.193-1G>A (n.193-1G>A)	dbSNP
11	g.47448152T>A	CA380335476	RAPSN	c.193-2A>T (n.193-2A>T)
11	g.47448152T>C	CA380335481	RAPSN	c.193-2A>G (n.193-2A>G)
11	g.47448152T>G	CA380335478	RAPSN	c.193-2A>C (n.193-2A>C)	ClinVar dbSNP
11	g.47448152T=	CA1969378741	RAPSN	c.193-2A= (n.193-2A=)
11	g.47448153G>A	CA599374691	RAPSN	c.193-3C>T (n.193-3C>T)	dbSNP gnomAD v2 gnomAD v4
11	g.47448153G=	CA1969378743	RAPSN	c.193-3C= (n.193-3C=)
11	g.47448154C>A	CA2613408252	RAPSN	c.193-4G>T (n.193-4G>T)	gnomAD v4
11	g.47448154C>T	CA2580084294	RAPSN	c.193-4G>A (n.193-4G>A)	ClinVar gnomAD v4
11	g.47448155A=	CA1969378745	RAPSN	c.193-5T= (n.193-5T=)
11	g.47448155A>C	CA5976791	RAPSN	c.193-5T>G (n.193-5T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47448156C=	CA1969378746	RAPSN	c.193-6G= (n.193-6G=)
11	g.47448156C>T	CA913591499	RAPSN	c.193-6G>A (n.193-6G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448157A=	CA1969378748	RAPSN	c.193-7T= (n.193-7T=)
11	g.47448157A>G	CA599374692	RAPSN	c.193-7T>C (n.193-7T>C)	dbSNP gnomAD v2 gnomAD v4
11	g.47448158C>A	CA2574817224	RAPSN	c.193-8G>T (n.193-8G>T)	ClinVar gnomAD v4
11	g.47448158C>G	CA2613408261	RAPSN	c.193-8G>C (n.193-8G>C)	gnomAD v4
11	g.47448159del	CA2574817225	RAPSN	c.193-9del (n.193-9del)
11	g.47448160G>A	CA2499221053	RAPSN	c.193-10C>T (n.193-10C>T)	ClinVar dbSNP gnomAD v4
11	g.47448160G>T	CA2613408263	RAPSN	c.193-10C>A (n.193-10C>A)	gnomAD v4
11	g.47448161C=	CA1969378750	RAPSN	c.193-11G= (n.193-11G=)
11	g.47448161C>T	CA5976792	RAPSN	c.193-11G>A (n.193-11G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448162G>A	CA599374693	RAPSN	c.193-12C>T (n.193-12C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.47448162G=	CA1969378751	RAPSN	c.193-12C= (n.193-12C=)
11	g.47448162G>T	CA2613408267	RAPSN	c.193-12C>A (n.193-12C>A)	gnomAD v4
11	g.47448164C=	CA1969378754	RAPSN	c.193-14G= (n.193-14G=)
11	g.47448164C>T	CA5976793	RAPSN	c.193-14G>A (n.193-14G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448165G>A	CA5976794	RAPSN	c.193-15C>T (n.193-15C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448165G>C	CA2581004887	RAPSN	c.193-15C>G (n.193-15C>G)
11	g.47448165G=	CA1630848701	RAPSN	c.193-15C= (n.193-15C=)
11	g.47448165G>T	CA212887	RAPSN	c.193-15C>A (n.193-15C>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.47448166G>A	CA221722492	RAPSN	c.193-16C>T (n.193-16C>T)	ClinVar dbSNP gnomAD v4 COSMIC
11	g.47448166G=	CA1969378760	RAPSN	c.193-16C= (n.193-16C=)
11	g.47448166G>T	CA599374694	RAPSN	c.193-16C>A (n.193-16C>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448167T>G	CA2740093719	RAPSN	c.193-17A>C (n.193-17A>C)	ClinVar
11	g.47448168G>A	CA2580084295	RAPSN	c.193-18C>T (n.193-18C>T)	ClinVar
11	g.47448169G>T	CA2613408280	RAPSN	c.193-19C>A (n.193-19C>A)	gnomAD v4
11	g.47448171C=	CA1969378761	RAPSN	c.193-21G= (n.193-21G=)
11	g.47448171C>G	CA599374695	RAPSN	c.193-21G>C (n.193-21G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448171C>T	CA2613408283	RAPSN	c.193-21G>A (n.193-21G>A)	gnomAD v4
11	g.47448172del	CA2613408285	RAPSN	c.193-22del (n.193-22del)	gnomAD v4
11	g.47448172A>G	CA2574817226	RAPSN	c.193-22T>C (n.193-22T>C)
11	g.47448172A>T	CA2613408286	RAPSN	c.193-22T>A (n.193-22T>A)	gnomAD v4
11	g.47448173G>A	CA2613408287	RAPSN	c.193-23C>T (n.193-23C>T)	gnomAD v4
11	g.47448173G>C	CA2574817227	RAPSN	c.193-23C>G (n.193-23C>G)
11	g.47448174G>A	CA2613408289	RAPSN	c.193-24C>T (n.193-24C>T)	gnomAD v4
11	g.47448174G>T	CA2613408291	RAPSN	c.193-24C>A (n.193-24C>A)	gnomAD v4
11	g.47448175T>G	CA2613408294	RAPSN	c.193-25A>C (n.193-25A>C)	gnomAD v4
11	g.47448176G>A	CA599374696	RAPSN	c.193-26C>T (n.193-26C>T)	dbSNP gnomAD v2 gnomAD v4
11	g.47448176G=	CA1969378763	RAPSN	c.193-26C= (n.193-26C=)
11	g.47448176G>T	CA2613408318	RAPSN	c.193-26C>A (n.193-26C>A)	gnomAD v4
11	g.47448177G>C	CA1969378764	RAPSN	c.193-27C>G (n.193-27C>G)	dbSNP
11	g.47448177G=	CA1969378765	RAPSN	c.193-27C= (n.193-27C=)
11	g.47448177G>T	CA2613408321	RAPSN	c.193-27C>A (n.193-27C>A)	gnomAD v4
11	g.47448178T>G	CA2613408323	RAPSN	c.193-28A>C (n.193-28A>C)	gnomAD v4
11	g.47448178_47448183delinsTGCTCA	CA1969378766	RAPSN	c.193-33_193-28delinsTGAGCA (n.193-33_193-28delinsTGAGCA)
11	g.47448179G>A	CA2574817228	RAPSN	c.193-29C>T (n.193-29C>T)	gnomAD v4
11	g.47448179G>C	CA1969378768	RAPSN	c.193-29C>G (n.193-29C>G)	dbSNP
11	g.47448179G=	CA1969378767	RAPSN	c.193-29C= (n.193-29C=)
11	g.47448179G>T	CA2613408327	RAPSN	c.193-29C>A (n.193-29C>A)	gnomAD v4
11	g.47448181_47448185del	CA5976795	RAPSN	c.193-33_193-29del (n.193-33_193-29del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448180C>A	CA2574817229	RAPSN	c.193-30G>T (n.193-30G>T)	gnomAD v4
11	g.47448180C=	CA1969378770	RAPSN	c.193-30G= (n.193-30G=)
11	g.47448180C>T	CA677014540	RAPSN	c.193-30G>A (n.193-30G>A)	dbSNP gnomAD v3 gnomAD v4
11	g.47448182C>A	CA677014542	RAPSN	c.193-32G>T (n.193-32G>T)	dbSNP gnomAD v4
11	g.47448182C=	CA1969378772	RAPSN	c.193-32G= (n.193-32G=)
11	g.47448182C>T	CA221722511	RAPSN	c.193-32G>A (n.193-32G>A)	dbSNP gnomAD v3 gnomAD v4
11	g.47448183A>G	CA2613408335	RAPSN	c.193-33T>C (n.193-33T>C)	gnomAD v4
11	g.47448184G>T	CA2613408336	RAPSN	c.193-34C>A (n.193-34C>A)	gnomAD v4

Number of alleles fetched