SNVfilter web server

Gene Symbol	OMIM	Phenotype	Mutation	rsID	Chromosome	Position	Ref	Alt	Info
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP DEL, 1078T	rs121908744	7	117540177	TT	T	dbSNP_138;TSA=deletion;E_Cited;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, ILE507DEL	rs121908745	7	117559589	CATC	C	dbSNP_138;TSA=deletion;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 2-BP DEL, 936TA	rs121908773	7	117536608	TAT	T	dbSNP_138;TSA=deletion;E_Cited;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 2-BP DEL, 1609CA	rs121908775	7	117559547	TCA	T	dbSNP_138;TSA=deletion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 2-BP DEL, 1677TA	rs121908776	7	117559615	ATA	A	dbSNP_138;TSA=deletion;E_Cited;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 22-BP DEL	rs121908804	7	117535387	TAGGGAGAATGATGATGAAGTAC	T	dbSNP_138;TSA=deletion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP DEL, 3659C	rs121908811	7	117627711	AC	A	dbSNP_138;TSA=deletion;E_Cited;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP DEL, 1213T	rs387906361	7	117540310	AT	A	dbSNP_138;TSA=deletion;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP DEL, 556A	rs387906363	7	117531048	CA	C	dbSNP_138;TSA=deletion;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP DEL, 557T	rs387906364	7	117531053	TT	T	dbSNP_138;TSA=deletion;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, 2-BP DEL, NT1221	rs387906365	7	117540322	TCT	T	dbSNP_138;TSA=deletion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, IVS6, 12-BP DEL	rs387906367	7	117536533	TTGATTGATTTAC	T	ClinVar_20131230;TSA=deletion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 18-BP DEL, NT591	rs387906371	7	117531083	GAATAGCTATGTTTAGTTT	G	ClinVar_20131230;TSA=deletion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 4-BP DEL, NT4010	rs387906373	7	117652845	GTATT	G	dbSNP_138;TSA=deletion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP DEL, 1215G	rs387906375	7	117540312	GG	G	dbSNP_138;TSA=deletion;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP DEL, 2423G	rs387906376	7	117592457	CG	C	dbSNP_138;TSA=deletion;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP DEL, 3293A	rs387906377	7	117611601	CA	C	dbSNP_138;TSA=deletion;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP INS, 2307A	rs121908787	7	117592341	A	AA	dbSNP_138;TSA=insertion;E_Multiple_observations;E_Cited;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP INS, 2869G	rs121908788	7	117603610	G	GG	dbSNP_138;TSA=insertion;E_Cited;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 2-BP INS, 2566AT	rs387906359	7	117592588	A	AAT	dbSNP_138;TSA=insertion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 2-BP INS, 1154TC	rs387906360	7	117540251	T	TTC	dbSNP_138;TSA=insertion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 5-BP DUP, NT3320	rs387906366	7	117611628	T	TCTATG	dbSNP_138;TSA=insertion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP INS, 3898C	rs387906370	7	117642486	G	GC	dbSNP_138;TSA=insertion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 4-BP INS, NT3667	rs387906378	7	117627587	A	ATCAA	dbSNP_138;TSA=insertion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP INS, 3622T	rs387906379	7	117627544	T	TT	dbSNP_138;TSA=insertion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP INS, 989A	rs387906380	7	117536663	A	AA	dbSNP_138;TSA=insertion;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 2-BP DEL, 394TT	rs121908769	7	117509130	TTT	T,TAA	dbSNP_138;TSA=sequence_alteration;E_Multiple_observations;E_Cited;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 84-BP DEL, NT1949	rs121908777	7	117591983	AAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC	A,AGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT	dbSNP_138;TSA=sequence_alteration;E_Multiple_observations;E_Cited;CLIN_pathogenic
CFTR	602421	CYSTIC FIBROSIS	CFTR, 1-BP DEL, 3876A	rs121908784	7	117642463	CA	C,CT	dbSNP_138;TSA=sequence_alteration;E_Multiple_observations;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY1244VAL AND SER912LEU	rs267606723	7	117642451	G	T	dbSNP_138;TSA=SNV;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY1244VAL AND SER912LEU	rs121909034	7	117603609	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_not_provided;CLIN_benign;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG1066CYS	rs78194216	7	117611637	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_not_provided;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY480CYS	rs79282516	7	117559509	G	T	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ALA1067THR	rs121909020	7	117611640	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_uncertain_significance;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG560THR	rs80055610	7	117587833	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG560LYS	rs80055610	7	117587833	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, TYR1092TER	rs121908761	7	117611717	C	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, TYR563ASN	rs121909006	7	117590360	T	A	dbSNP_138;TSA=SNV;CLIN_not_provided;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, LEU1065PRO	rs121909036	7	117611635	T	C	dbSNP_138;TSA=SNV;CLIN_not_provided;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, MET1101LYS (rs36210737)	rs36210737	7	117611743	T	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_Cited;CLIN_not_provided;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG553TER	rs74597325	7	117587811	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_ESP;CLIN_not_provided;CLIN_pathogenic;MA=T;MAF=0.000459137;MAC=1;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLN1352HIS	rs113857788	7	117664780	G	C	dbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;E_Cited;CLIN_likely_pathogenic;CLIN_pathogenic;MA=C;MAF=0.00367309;MAC=8;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ASP110HIS	rs113993958	7	117530953	G	C	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLU92LYS	rs121908751	7	117530899	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLU92TER	rs121908751	7	117530899	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, SER549ASN	rs121908755	7	117587800	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, SER549ILE	rs121908755	7	117587800	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG1066HIS	rs121909019	7	117611638	G	A	dbSNP_138;TSA=SNV;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLN1313TER	rs121909026	7	117652905	C	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_not_provided;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY85GLU	rs75961395	7	117509123	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_ESP;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, SER1255TER	rs76649725	7	117642484	C	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_ESP;CLIN_not_provided;CLIN_pathogenic;MA=T;MAF=0.000459137;MAC=1;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY1244VAL AND SER912LEU	rs267606723	7	117642451	G	A	dbSNP_138;TSA=SNV;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY1244VAL AND SER912LEU	rs121909034	7	117603609	C	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_not_provided;CLIN_benign;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG1066CYS	rs78194216	7	117611637	C	A	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_not_provided;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY480CYS	rs79282516	7	117559509	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ALA1067THR	rs121909020	7	117611640	G	C	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_uncertain_significance;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG560THR	rs80055610	7	117587833	G	C	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG560LYS	rs80055610	7	117587833	G	C	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, TYR1092TER	rs121908761	7	117611717	C	G	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, TYR563ASN	rs121909006	7	117590360	T	G	dbSNP_138;TSA=SNV;CLIN_not_provided;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, LEU1065PRO	rs121909036	7	117611635	T	G	dbSNP_138;TSA=SNV;CLIN_not_provided;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, MET1101LYS (rs36210737)	rs36210737	7	117611743	T	G	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_Cited;CLIN_not_provided;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG553TER	rs74597325	7	117587811	C	G	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_ESP;CLIN_not_provided;CLIN_pathogenic;MA=T;MAF=0.000459137;MAC=1;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLN1352HIS	rs113857788	7	117664780	G	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;E_Cited;CLIN_likely_pathogenic;CLIN_pathogenic;MA=C;MAF=0.00367309;MAC=8;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ASP110HIS	rs113993958	7	117530953	G	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLU92LYS	rs121908751	7	117530899	G	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLU92TER	rs121908751	7	117530899	G	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, SER549ASN	rs121908755	7	117587800	G	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, SER549ILE	rs121908755	7	117587800	G	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG1066HIS	rs121909019	7	117611638	G	T	dbSNP_138;TSA=SNV;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLN1313TER	rs121909026	7	117652905	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_not_provided;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY85GLU	rs75961395	7	117509123	G	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_ESP;CLIN_not_provided;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, SER1255TER	rs76649725	7	117642484	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_ESP;CLIN_not_provided;CLIN_pathogenic;MA=T;MAF=0.000459137;MAC=1;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, TRP1204TER	rs121908764	7	117627664	G	A	dbSNP_138;TSA=SNV;E_Cited;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, SER549ARG	rs121908757	7	117587799	A	C	dbSNP_138;TSA=SNV;E_Cited;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, ALA534GLU	rs121909022	7	117587815	C	A	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, TRP1204TER	rs121908765	7	117627665	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, SER549ARG	rs121909005	7	117587801	T	G	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, ALA534GLU	rs387906368	7	117587755	C	A	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY542TER	rs113993959	7	117587778	G	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY91ARG	rs121908750	7	117509140	G	A	dbSNP_138;TSA=SNV;E_Cited;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, LEU206TRP	rs121908752	7	117535285	T	G	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG352GLN	rs121908753	7	117540285	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, CYS524TER	rs121908754	7	117559643	C	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, PRO574HIS	rs121908758	7	117590394	C	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLN1238TER	rs121908766	7	117627765	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, TYR913CYS	rs121909008	7	117603612	A	G	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY458VAL	rs121909009	7	117548804	G	T	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, TRP1316TER	rs121909010	7	117652915	G	A	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG334TRP	rs121909011	7	117540230	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;CLIN_pathogenic;MA=T;MAF=0.000459137;MAC=1;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG851TER	rs121909012	7	117594990	C	T	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY551SER	rs121909013	7	117587805	G	A	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLN1291HIS	rs121909015	7	117642593	G	C	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, PHE311LEU	rs121909016	7	117540163	C	G	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, SER492PHE	rs121909017	7	117559546	C	T	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLU827TER	rs121909018	7	117592646	G	T	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ALA349VAL	rs121909021	7	117540276	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, LYS716TER	rs121909023	7	117592313	A	T	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, TRP57TER	rs121909025	7	117509040	G	A	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, PHE1286SER	rs121909028	7	117642577	T	C	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, TYR109CYS	rs121909031	7	117530951	A	G	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, ASP648VAL	rs121909033	7	117592110	A	T	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, HIS949TYR	rs121909035	7	117603719	C	T	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLN1071PRO	rs121909037	7	117611653	A	C	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY1249GLU	rs121909040	7	117642466	G	A	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, SER1255PRO	rs121909041	7	117642483	T	C	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, ASN1303HIS	rs121909042	7	117652875	A	C	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG553GLN	rs121909044	7	117587812	G	A	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLU7TER	rs121909045	7	117480113	G	T	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLU217GLY	rs121909046	7	117535318	A	G	dbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;E_ESP;CLIN_pathogenic;MA=G;MAF=0.00596878;MAC=13;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, ALA561GLU	rs121909047	7	117590355	C	A	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, IVS13, G-A, +1	rs141158996	7	117592658	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, IVS20, G-A, +1	rs143570767	7	117642594	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, THR1220ILE	rs1800123	7	117627712	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;E_Cited;E_ESP;CLIN_pathogenic;MA=T;MAF=0.000459137;MAC=1;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, TRP846TER	rs267606722	7	117594977	G	A	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, 3601, T-C, -20	rs373002889	7	117627502	T	C	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=T
CFTR	602421	CYSTIC FIBROSIS	CFTR, IVS19, A-G, +4	rs387906362	7	117627774	A	G	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, IVS19, G-A, -1	rs387906369	7	117642437	G	A	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, IVS3, A-G, +4	rs387906374	7	117509146	A	G	dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, SER1251ASN	rs74503330	7	117642472	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ALA455GLU	rs74551128	7	117548795	C	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, ARG1162TER	rs74767530	7	117627537	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_ESP;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, 3849+10KB, C-T	rs75039782	7	117639961	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, IVS16, G-A, +1	rs75096551	7	117606754	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_1000G;E_Cited;E_ESP;CLIN_pathogenic;MA=A;MAF=0.000459137;MAC=1;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, LYS710TER	rs75115087	7	117592295	A	T	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLY551ASP	rs75527207	7	117587806	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_Cited;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ALA559THR	rs75549581	7	117587829	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, ILE556VAL	rs75789129	7	117587820	A	G	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_1000G;CLIN_likely_pathogenic;CLIN_pathogenic;MA=G;MAF=0.0146924;MAC=32;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLN552TER	rs76554633	7	117587808	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, IVS10, G-A, -1	rs76713772	7	117587738	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_Cited;E_ESP;CLIN_pathogenic;MA=A;MAF=0.000459137;MAC=1;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, TRP1282TER	rs77010898	7	117642566	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_ESP;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLN493TER	rs77101217	7	117559548	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, THR338ILE	rs77409459	7	117540243	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, TRP1089TER	rs78802634	7	117611707	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=G
CFTR	602421	CYSTIC FIBROSIS	CFTR, GLN890TER	rs79633941	7	117603542	C	T	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=C
CFTR	602421	CYSTIC FIBROSIS	CFTR, HIS1085ARG	rs79635528	7	117611695	A	G	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=A
CFTR	602421	CYSTIC FIBROSIS	CFTR, ASN1303LYS	rs80034486	7	117652877	C	G	dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;MA=G;MAF=0.000459137;MAC=1;AA=C