ATAVDB

Variant

Variant ID	Consequence	Effect	Gene	AC	AN	AF	NS	NHOM	maxEAF
7-48211089-T-C	p.His3His	synonymous	ABCA13	16	78444	2.03967E-4	39222	0	7.6438E-4
7-48211090-G-A	p.Ala4Thr	missense	ABCA13	24	78452	3.0592E-4	39226	0	2.5481E-4
7-48211091-C-T	p.Ala4Val	missense	ABCA13	1	78448	1.27473E-5	39224	0	NA
7-48211092-C-T	p.Ala4Ala	synonymous	ABCA13	2	78486	2.54823E-5	39243	0	2.11652E-5
7-48211092-CG-C	p.Cys6fs	frameshift	ABCA13	1	78486	1.27411E-5	39243	0	NA
7-48211097-G-A	p.Cys6Tyr	missense	ABCA13	5	78576	6.36327E-5	39288	0	5.80114E-5
7-48211097-GC-G	p.Gln7fs	frameshift	ABCA13	1	78576	1.27265E-5	39288	0	NA
7-48211098-C-A	p.Cys6*	stop_gained	ABCA13	7	78582	8.90789E-5	39291	0	1.27462E-4
7-48211099-CAGT-C	p.Gln7_Phe8delinsLeu	disruptive_inframe_deletion	ABCA13	2	78592	2.54479E-5	39296	0	1.15996E-4
7-48211101-G-C	p.Gln7His	missense	ABCA13	2	78612	2.54414E-5	39306	0	7.05099E-6
7-48211110-C-T	p.Ala10Ala	synonymous	ABCA13	1	78688	1.27084E-5	39344	0	3.18552E-5
7-48211148-C-T	p.Pro23Leu	missense+splice_region	ABCA13	1	78568	1.27278E-5	39284	0	5.81531E-5
7-48211149-G-A	p.Pro23Pro	splice_region+synonymous	ABCA13	3	78542	3.81961E-5	39271	0	2.23029E-4
7-48211156-G-A	c.69+7G>A	splice_region	ABCA13	1	78448	1.27473E-5	39224	0	NA
7-48232552-C-T	c.70-4C>T	splice_region	ABCA13	2	77434	2.58284E-5	38717	0	6.99689E-4
7-48232559-C-G	p.Leu25Val	missense	ABCA13	1	77962	1.28268E-5	38981	0	3.39732E-5
7-48232580-T-C	p.Trp32Arg	missense	ABCA13	155	78338	0.00197861	39169	2	0.00452166
7-48232596-T-C	p.Phe37Ser	missense	ABCA13	1	78498	1.27392E-5	39249	0	6.37796E-5
7-48232616-C-T	p.Arg44Cys	missense	ABCA13	3	78478	3.82273E-5	39239	0	6.52533E-5
7-48232617-G-A	p.Arg44His	missense	ABCA13	6	78458	7.6474E-5	39229	0	7.94591E-5
7-48232617-G-C	p.Arg44Pro	missense	ABCA13	1	78458	1.27457E-5	39229	0	2.62502E-4
7-48232626-A-C	p.Glu47Ala	missense	ABCA13	1	78424	1.27512E-5	39212	0	NA
7-48232645-C-T	p.Asp53Asp	synonymous	ABCA13	3	78280	3.8324E-5	39140	0	3.19081E-5
7-48232656-T-G	c.163+7T>G	splice_region	ABCA13	13	78034	1.66594E-4	39017	0	6.28931E-4
7-48237825-TA-T	c.164-8delA	splice_region	ABCA13	2	80242	2.49246E-5	40121	0	0.00134138
7-48237829-TCTAGG-T	p.Cys55fs	frameshift	ABCA13	2	80280	2.49128E-5	40140	0	0.00147634
7-48237838-T-A	p.Tyr56*	stop_gained	ABCA13	2	80288	2.49103E-5	40144	0	0.00244347
7-48237839-T-TGA	p.Leu57fs	frameshift	ABCA13	2	80304	2.49054E-5	40152	0	0.00258978
7-48237840-T-C	p.Leu57Ser	missense	ABCA13	13	80346	1.618E-4	40173	0	1.98539E-4
7-48237840-T-TACG	p.Leu57_Gln58insArg	disruptive_inframe_insertion	ABCA13	2	80320	2.49004E-5	40160	0	0.00246188
7-48237842-C-A	p.Gln58Lys	missense	ABCA13	2	80320	2.49004E-5	40160	0	NA
7-48237842-C-CG	p.Gln58fs	frameshift	ABCA13	1	80292	1.24545E-5	40146	0	0.00265344
7-48237844-G-C	p.Gln58His	missense	ABCA13	1	80302	1.2453E-5	40151	0	0.00339464
7-48237846-C-A	p.Pro59His	missense	ABCA13	1	80334	1.2448E-5	40167	0	0.00366123
7-48237848-C-T	p.Arg60*	stop_gained	ABCA13	3	80390	3.73181E-5	40195	0	5.1254E-5
7-48237853-T-G	p.Asp61Glu	missense	ABCA13	4	80400	4.97512E-5	40200	0	6.37146E-5
7-48237857-C-T	p.Pro63Ser	missense	ABCA13	1	80422	1.24344E-5	40211	0	8.04887E-6
7-48237866-G-A	p.Gly66Ser	missense	ABCA13	1	80438	1.24319E-5	40219	0	NA
7-48237867-G-A	p.Gly66Asp	missense	ABCA13	1	80438	1.24319E-5	40219	0	0.00125
7-48237870-T-G	p.Val67Gly	missense	ABCA13	1	80438	1.24319E-5	40219	0	8.47903E-6
7-48237878-T-C	p.Phe70Leu	missense	ABCA13	2	80438	2.48639E-5	40219	0	1.69374E-5
7-48237904-T-C	p.Thr78Thr	synonymous	ABCA13	1	80426	1.24338E-5	40213	0	6.36862E-5
7-48237905-G-T	p.Gly79*	stop_gained	ABCA13	1	80426	1.24338E-5	40213	0	4.21443E-5
7-48237906-G-C	p.Gly79Ala	missense	ABCA13	12	80410	1.49235E-4	40205	0	2.54793E-4
7-48237919-G-A	p.Arg83Arg	synonymous	ABCA13	34	80396	4.22907E-4	40198	0	8.68041E-4
7-48237951-A-G	p.His94Arg	missense	ABCA13	8	80336	9.95818E-5	40168	0	5.03525E-4
7-48237957-G-A	p.Arg96His	missense+splice_region	ABCA13	1	80322	1.24499E-5	40161	0	6.37064E-5
7-48258950-G-C	c.288-1G>C	splice_acceptor	ABCA13	8	80130	9.98378E-5	40065	0	2.22973E-4
7-48258979-C-T	p.Pro106Ser	missense	ABCA13	1	80302	1.2453E-5	40151	0	8.32584E-6
7-48258990-C-T	p.Val109Val	synonymous	ABCA13	1	80336	1.24477E-5	40168	0	2.42041E-5
7-48259001-C-A	p.Ala113Asp	missense	ABCA13	2	80344	2.4893E-5	40172	0	NA
7-48259002-C-T	p.Ala113Ala	synonymous	ABCA13	2	80348	2.48917E-5	40174	0	NA
7-48259002-C-G	p.Ala113Ala	synonymous	ABCA13	2	80348	2.48917E-5	40174	0	NA
7-48259014-G-A	p.Glu117Glu	synonymous	ABCA13	5	80342	6.2234E-5	40171	0	1.40964E-4
7-48259040-A-G	p.His126Arg	missense	ABCA13	3	80274	3.7372E-5	40137	0	2.48591E-5
7-48259051-G-A	p.Asp130Asn	missense	ABCA13	3	80238	3.73888E-5	40119	0	3.18756E-5
7-48259056-G-A	p.Lys131Lys	synonymous	ABCA13	1	80236	1.24632E-5	40118	0	NA
7-48259057-G-A	p.Ala132Thr	missense	ABCA13	9	80218	1.12194E-4	40109	0	2.8997E-4
7-48259058-C-G	p.Ala132Gly	missense	ABCA13	1	80208	1.24676E-5	40104	0	3.19061E-5
7-48259067-T-G	p.Leu135*	stop_gained	ABCA13	1	80178	1.24722E-5	40089	0	NA
7-48259072-AGACTTTGGGTAG-A	p.Arg137_Glu141delinsLys	disruptive_inframe_deletion	ABCA13	11	80162	1.37222E-4	40081	0	1.24267E-4
7-48259073-G-T	p.Arg137Ile	missense	ABCA13	6	80164	7.48466E-5	40082	0	1.69242E-4
7-48259082-T-C	p.Val140Ala	missense	ABCA13	1	80124	1.24807E-5	40062	0	8.28583E-6
7-48259086-A-G	p.Glu141Glu	synonymous	ABCA13	2	80106	2.49669E-5	40053	0	3.18552E-5
7-48259087-C-T	p.Arg142*	stop_gained	ABCA13	4	80082	4.99488E-5	40041	0	7.45712E-5
7-48259088-G-A	p.Arg142Gln	missense	ABCA13	7	80062	8.74322E-5	40031	0	0.00352467
7-48259102-G-A	p.Asp147Asn	missense+splice_region	ABCA13	1	80018	1.24972E-5	40009	0	NA
7-48259106-A-G	c.439+4A>G	splice_region	ABCA13	1	79996	1.25006E-5	39998	0	NA
7-48260884-C-T	p.Ser149Phe	missense	ABCA13	1	75822	1.31888E-5	37911	0	1.4246E-5
7-48260894-C-T	p.Ser152Ser	synonymous	ABCA13	31	75808	4.08928E-4	37904	0	8.28184E-4
7-48260896-G-GT	p.Thr156fs	frameshift	ABCA13	1	75762	1.31992E-5	37881	0	3.18654E-5
7-48260906-A-G	p.Thr156Thr	splice_region+synonymous	ABCA13	1	75760	1.31996E-5	37880	0	1.43287E-5
7-48266869-A-G	p.Asn160Ser	missense	ABCA13	34	79974	4.25138E-4	39987	0	6.69643E-4
7-48266873-G-A	p.Lys161Lys	synonymous	ABCA13	23	80010	2.87464E-4	40005	0	0.0025
7-48266876-C-A	p.Thr162Thr	synonymous	ABCA13	997	79994	0.0124634	39997	9	0.0594159
7-48266876-C-T	p.Thr162Thr	synonymous	ABCA13	2	80018	2.49944E-5	40009	0	5.79691E-5
7-48266877-G-A	p.Glu163Lys	missense	ABCA13	5	80050	6.2461E-5	40025	0	2.87301E-4
7-48266881-A-C	p.Glu164Ala	missense	ABCA13	2	80086	2.49732E-5	40043	0	6.37959E-5
7-48266883-G-A	p.Val165Ile	missense	ABCA13	1	80098	1.24847E-5	40049	0	8.28144E-6
7-48266889-T-C	p.Leu167Leu	synonymous	ABCA13	1	80140	1.24782E-5	40070	0	8.28157E-6
7-48266910-C-T	p.Gln174*	stop_gained	ABCA13	2	80202	2.4937E-5	40101	0	NA
7-48266937-C-A	p.Leu183Ile	missense	ABCA13	1	80060	1.24906E-5	40030	0	9.2329E-4
7-48266939-T-G	p.Leu183Leu	synonymous	ABCA13	1	80060	1.24906E-5	40030	0	8.53116E-4
7-48266940-T-A	p.Leu184Ile	missense	ABCA13	1	80060	1.24906E-5	40030	0	8.59912E-4
7-48266944-T-G	p.Leu185Arg	missense	ABCA13	1	80042	1.24934E-5	40021	0	9.67867E-4
7-48266945-G-GCGACCA	p.Leu185_Pro186insArgPro	disruptive_inframe_insertion	ABCA13	1	80046	1.24928E-5	40023	0	0.00106635
7-48266947-C-T	p.Pro186Leu	missense	ABCA13	1	80150	1.24766E-5	40075	0	2.4853E-5
7-48266948-G-A	p.Pro186Pro	synonymous	ABCA13	7	80150	8.73362E-5	40075	0	1.16487E-4
7-48266951-A-AT	p.Leu188fs	frameshift	ABCA13	1	80036	1.24944E-5	40018	0	0.00136936
7-48266968-A-G	p.Asp193Gly	missense	ABCA13	1	80178	1.24722E-5	40089	0	8.28803E-6
7-48266974-T-G	p.Val195Gly	missense	ABCA13	1	80176	1.24726E-5	40088	0	NA
7-48266974-T-A	p.Val195Glu	missense	ABCA13	2	80176	2.49451E-5	40088	0	NA
7-48266976-G-A	p.Glu196Lys	missense	ABCA13	18	80176	2.24506E-4	40088	1	0.003125
7-48266977-A-C	p.Glu196Ala	missense	ABCA13	1	80178	1.24722E-5	40089	0	NA
7-48266990-T-A	p.Asp200Glu	missense	ABCA13	3	80132	3.74382E-5	40066	1	8.03258E-6
7-48267010-A-G	p.Gln207Arg	missense	ABCA13	1	79998	1.25003E-5	39999	0	3.1837E-5
7-48269416-T-G	c.633-6T>G	splice_region	ABCA13	1	80242	1.24623E-5	40121	0	NA
7-48269418-C-G	c.633-4C>G	splice_region	ABCA13	1	80252	1.24607E-5	40126	0	NA
7-48269432-TC-T	p.Leu216fs	frameshift	ABCA13	1	80328	1.2449E-5	40164	0	NA
7-48269433-C-T	p.Ser215Phe	missense	ABCA13	1	80332	1.24483E-5	40166	0	NA
7-48269438-G-A	p.Glu217Lys	missense	ABCA13	6	80334	7.46882E-5	40167	1	7.45527E-5
7-48269440-A-T	p.Glu217Asp	missense	ABCA13	2	80318	2.4901E-5	40159	0	NA
7-48269456-C-A	p.Pro223Thr	missense	ABCA13	1	80362	1.24437E-5	40181	0	NA
7-48269463-A-G	p.Asn225Ser	missense	ABCA13	41	80398	5.09963E-4	40199	0	5.03525E-4
7-48269468-AC-A	p.Thr227fs	frameshift	ABCA13	1	80410	1.24363E-5	40205	0	NA
7-48269482-T-A	p.Val231Val	synonymous	ABCA13	19	80424	2.36248E-4	40212	0	2.22902E-4
7-48269496-T-C	p.Leu236Pro	missense	ABCA13	1	80444	1.2431E-5	40222	0	NA
7-48269501-G-C	p.Val238Leu	missense	ABCA13	1	80452	1.24298E-5	40226	0	NA
7-48269511-C-T	p.Ser241Leu	missense	ABCA13	6	80430	7.4599E-5	40215	0	1.59226E-4
7-48269517-T-C	p.Leu243Pro	missense	ABCA13	1	80438	1.24319E-5	40219	0	3.1841E-5
7-48269519-A-G	p.Thr244Ala	missense	ABCA13	2	80432	2.48657E-5	40216	0	2.40807E-5
7-48269523-T-A	p.Phe245Tyr	missense	ABCA13	2	80418	2.48701E-5	40209	0	8.28185E-6
7-48269538-G-T	p.Gly250Val	missense	ABCA13	1	80396	1.24384E-5	40198	0	NA
7-48269548-C-A	p.Val253Val	synonymous	ABCA13	1	80380	1.24409E-5	40190	0	8.29201E-6
7-48269551-C-T	p.Thr254Thr	splice_region+synonymous	ABCA13	1	80358	1.24443E-5	40179	0	6.43439E-5
7-48269552-G-A	p.Glu255Lys	missense+splice_region	ABCA13	3	80358	3.73329E-5	40179	0	1.60918E-5
7-48273616-G-C	p.Glu255Asp	missense+splice_region	ABCA13	2	80388	2.48793E-5	40194	0	NA
7-48273622-T-G	p.Val257Val	synonymous	ABCA13	85	80400	0.00105721	40200	1	0.00553877
7-48273630-T-C	p.Leu260Pro	missense	ABCA13	1	80422	1.24344E-5	40211	0	4.01407E-6
7-48273631-G-T	p.Leu260Leu	synonymous	ABCA13	1	80424	1.24341E-5	40212	0	4.01361E-6
7-48273638-C-A	p.Gln263Lys	missense	ABCA13	2	80420	2.48694E-5	40210	0	3.18451E-5
7-48273651-GGGA-G	p.Trp267_Asp268delinsCys	disruptive_inframe_deletion	ABCA13	6	80432	7.45972E-5	40216	0	4.98331E-5
7-48273652-G-C	p.Trp267Cys	missense	ABCA13	1	80426	1.24338E-5	40213	0	NA
7-48273662-A-G	p.Lys271Glu	missense	ABCA13	1	80438	1.24319E-5	40219	0	4.01204E-6
7-48273664-A-C	p.Lys271Asn	missense	ABCA13	2	80440	2.48633E-5	40220	0	9.55353E-5
7-48273682-A-C	p.Lys277Asn	missense	ABCA13	1	80446	1.24307E-5	40223	0	NA
7-48273685-C-A	p.Ser278Ser	synonymous	ABCA13	5	80436	6.21612E-5	40218	0	5.79816E-5
7-48273685-C-T	p.Ser278Ser	synonymous	ABCA13	1	80436	1.24322E-5	40218	0	1.65662E-5
7-48273690-T-A	p.Phe280Tyr	missense	ABCA13	1	80444	1.2431E-5	40222	0	NA
7-48273697-T-A	p.Phe282Leu	missense	ABCA13	1	80452	1.24298E-5	40226	0	8.02375E-6
7-48273705-T-C	p.Leu285Pro	missense	ABCA13	1	80436	1.24322E-5	40218	0	NA
7-48273711-C-T	p.Thr287Met	missense	ABCA13	8	80424	9.94728E-5	40212	0	1.20373E-5
7-48273712-G-A	p.Thr287Thr	synonymous	ABCA13	5	80424	6.21705E-5	40212	0	0.00100705
7-48273726-A-G	p.Asn292Ser	missense	ABCA13	1	80386	1.244E-5	40193	0	6.37389E-5
7-48273735-C-T	p.Ala295Val	missense	ABCA13	1	80336	1.24477E-5	40168	0	NA
7-48273747-A-T	p.Glu299Val	missense+splice_region	ABCA13	1	80268	1.24583E-5	40134	0	5.03525E-4
7-48273749-G-T	c.897+1G>T	splice_donor	ABCA13	2	80260	2.4919E-5	40130	0	4.01381E-6
7-48273753-A-G	p.His301Arg	missense	ABCA13	1	80216	1.24663E-5	40108	0	NA
7-48273772-A-G	p.Ser307Ser	synonymous	ABCA13	810	79966	0.0101293	39983	15	0.0222668
7-48273776-C-T	p.Arg309Cys	missense	ABCA13	2	79910	2.50282E-5	39955	0	4.96985E-5
7-48273777-G-A	p.Arg309His	missense	ABCA13	9	79862	1.12694E-4	39931	0	4.97034E-5
7-48273799-G-C	p.Trp316Cys	missense	ABCA13	1	79464	1.25843E-5	39732	0	3.18451E-5
7-48273823-G-A	c.*18G>A	splice_region	ABCA13	20	78784	2.53859E-4	39392	0	2.22859E-4
7-48273830-C-T	c.*19+6C>T	splice_region	ABCA13	23	78340	2.93592E-4	39170	0	7.32484E-4
7-48273831-G-A	c.*19+7G>A	splice_region	ABCA13	2	78312	2.55389E-5	39156	0	1.22389E-5
7-48278835-C-T	c.*20-3C>T	splice_region	ABCA13	1	80176	1.24726E-5	40088	0	NA
7-48278853-TC-T	p.Leu306fs	frameshift	ABCA13	2	80244	2.4924E-5	40122	0	6.37146E-5
7-48278867-G-T	p.Met309Ile	missense	ABCA13	69	80274	8.59556E-4	40137	0	7.0086E-4
7-48278890-C-T	p.Thr317Ile	missense	ABCA13	7	80328	8.71427E-5	40164	0	6.36821E-5
7-48278891-A-C	p.Thr317Thr	synonymous	ABCA13	3	80326	3.73478E-5	40163	0	4.01294E-6
7-48278897-G-T	p.Glu319Asp	missense	ABCA13	4	80334	4.97921E-5	40167	0	NA
7-48278913-T-C	p.Trp325Arg	missense	ABCA13	2	80342	2.48936E-5	40171	0	8.29848E-6
7-48278916-G-A	p.Gly326Ser	missense	ABCA13	26	80354	3.23568E-4	40177	0	0.001875
7-48278917-G-GCAGC	p.His327fs	frameshift	ABCA13	1	80350	1.24456E-5	40175	0	NA
7-48278919-C-T	p.His327Tyr	missense	ABCA13	2	80348	2.48917E-5	40174	0	2.49041E-5
7-48278921-C-T	p.His327His	synonymous	ABCA13	3	80338	3.73422E-5	40169	0	6.64231E-5
7-48278922-G-A	p.Val328Ile	missense	ABCA13	3	80340	3.73413E-5	40170	0	2.22859E-4
7-48278954-C-T	p.Ala338Ala	synonymous	ABCA13	1	80408	1.24366E-5	40204	0	6.37511E-5
7-48278988-C-T	p.Arg350*	stop_gained	ABCA13	2	80412	2.48719E-5	40206	0	9.5584E-5
7-48278997-C-CGGTA	p.Gln353fs	frameshift	ABCA13	26	80420	3.23303E-4	40210	0	2.32686E-4
7-48278999-A-G	p.Gln353Gln	synonymous	ABCA13	1	80424	1.24341E-5	40212	0	NA
7-48279000-C-A	p.Gln354Lys	missense+splice_region	ABCA13	1	80414	1.24356E-5	40207	0	1.7304E-5
7-48280464-G-T	p.Val355Leu	missense+splice_region	ABCA13	6	78184	7.6742E-5	39092	0	2.22902E-4
7-48280473-C-T	p.Gln358*	stop_gained	ABCA13	3	78532	3.8201E-5	39266	0	3.82958E-5
7-48280508-C-T	p.Leu369Leu	synonymous	ABCA13	85	80158	0.00106041	40079	1	0.00210164
7-48280512-G-T	p.Gly371Cys	missense	ABCA13	1	80254	1.24604E-5	40127	0	NA
7-48280522-A-G	p.His374Arg	missense	ABCA13	1	80264	1.24589E-5	40132	0	NA
7-48280533-G-C	p.Ala378Pro	missense	ABCA13	17	80252	2.11833E-4	40126	0	5.03525E-4
7-48280543-A-G	p.Asn381Ser	missense	ABCA13	3	80244	3.7386E-5	40122	0	8.29655E-6
7-48280547-G-T	p.Gln382His	missense	ABCA13	4	80220	4.98629E-5	40110	0	6.36618E-5
7-48280549-T-C	p.Phe383Ser	missense	ABCA13	2	80214	2.49333E-5	40107	0	8.04085E-6
7-48280551-G-A	p.Glu384Lys	missense	ABCA13	16	80224	1.99442E-4	40112	0	5.09489E-4
7-48280556-A-G	p.Glu385Glu	synonymous	ABCA13	1	80228	1.24645E-5	40114	0	1.20608E-5
7-48280558-A-C	p.Glu386Ala	missense	ABCA13	34	80234	4.23761E-4	40117	0	0.00105075
7-48280559-G-C	p.Glu386Asp	missense	ABCA13	2	80234	2.49271E-5	40117	0	8.2861E-6
7-48280560-A-G	p.Ser387Gly	missense	ABCA13	1	80228	1.24645E-5	40114	0	NA
7-48280564-A-G	p.Lys388Arg	missense	ABCA13	1	80214	1.24667E-5	40107	0	NA
7-48280593-A-C	p.Thr398Pro	missense	ABCA13	1	80240	1.24626E-5	40120	0	3.1839E-5
7-48280598-A-C	p.Ala399Ala	synonymous	ABCA13	2	80244	2.4924E-5	40122	0	3.1841E-5
7-48280633-G-A	p.Gly411Asp	missense	ABCA13	1	80220	1.24657E-5	40110	0	NA
7-48280649-T-C	p.His416His	synonymous	ABCA13	1	80190	1.24704E-5	40095	0	1.65659E-5
7-48280652-A-G	p.Thr417Thr	synonymous	ABCA13	4	80178	4.9889E-5	40089	0	NA
7-48280659-A-G	p.Lys420Glu	missense	ABCA13	1	80132	1.24794E-5	40066	0	NA
7-48280670-C-T	c.*384+7C>T	splice_region	ABCA13	203	79992	0.00253775	39996	1	0.010625
7-48280671-G-A	c.*384+8G>A	splice_region	ABCA13	1	79994	1.25009E-5	39997	0	8.28789E-6
7-48284168-C-G	c.*482-5C>G	splice_region	ABCA13	691	79500	0.00869182	39750	3	0.00752415
7-48284171-A-G	c.*482-2A>G	splice_acceptor	ABCA13	1	79578	1.25663E-5	39789	0	4.05091E-6
7-48284173-A-AT	p.Leu422fs	frameshift	ABCA13	2	79586	2.513E-5	39793	0	3.18552E-5
7-48284179-G-A	p.Gln423Gln	synonymous	ABCA13	28	79668	3.51459E-4	39834	0	0.0020141
7-48284184-T-A	p.Leu425Gln	missense	ABCA13	791	79668	0.0099287	39834	21	0.0217156
7-48284185-G-T	p.Leu425Leu	synonymous	ABCA13	3	79692	3.76449E-5	39846	0	8.55915E-6
7-48284199-G-A	p.Ser430Asn	missense	ABCA13	1	79788	1.25332E-5	39894	0	4.02706E-6
7-48284204-C-T	p.Leu432Leu	synonymous	ABCA13	5	79804	6.26535E-5	39902	0	3.1841E-5
7-48284212-C-A	p.Asn434Lys	missense	ABCA13	10	79856	1.25225E-4	39928	0	0.00100705
7-48284213-C-T	p.Leu435Leu	synonymous	ABCA13	1	79850	1.25235E-5	39925	0	NA
7-48284219-C-G	p.Gln437Glu	missense	ABCA13	1	79890	1.25172E-5	39945	0	4.02327E-6
7-48284222-T-A	p.Trp438Arg	missense	ABCA13	3	79910	3.75422E-5	39955	0	3.1841E-5
7-48284226-C-T	p.Pro439Leu	missense	ABCA13	1	79936	1.251E-5	39968	0	5.83042E-5
7-48284227-G-A	p.Pro439Pro	synonymous	ABCA13	1	79934	1.25103E-5	39967	0	1.66531E-5
7-48284229-C-T	p.Ala440Val	missense	ABCA13	1	79948	1.25081E-5	39974	0	NA
7-48284233-G-GA	p.Arg443fs	frameshift	ABCA13	1	79960	1.25063E-5	39980	0	4.02317E-6
7-48284238-G-T	p.Arg443Ile	missense	ABCA13	1	79992	1.25013E-5	39996	0	8.05082E-6
7-48284247-A-G	p.Gln446Arg	missense	ABCA13	1	80016	1.24975E-5	40008	0	NA
7-48284250-T-C	p.Leu447Pro	missense	ABCA13	1	80026	1.24959E-5	40013	0	NA
7-48284254-T-C	p.Asp448Asp	synonymous	ABCA13	133	80032	0.00166184	40016	0	0.00305655
7-48284271-C-T	p.Ala454Val	missense	ABCA13	1	80064	1.249E-5	40032	0	NA
7-48284272-G-C	p.Ala454Ala	synonymous	ABCA13	1	80068	1.24894E-5	40034	0	4.06802E-6
7-48284273-A-G	p.Ile455Val	missense	ABCA13	1	80070	1.24891E-5	40035	0	3.18552E-5
7-48284275-A-G	p.Ile455Met	missense	ABCA13	4	80072	4.9955E-5	40036	0	NA
7-48284297-C-G	p.Gln463Glu	missense	ABCA13	1	80142	1.24779E-5	40071	0	NA
7-48285071-ACCTTAGGTGAATAATAATCAATTTGTCTACTTTG-A	c.610-37_610-4delCCTTAGGTGAATAATAATCAATTTGTCTACTTTG	splice_region	ABCA13	1	78580	1.27259E-5	39290	0	NA
7-48285114-C-T	p.Leu466Phe	missense	ABCA13	1	79600	1.25628E-5	39800	0	NA
7-48285123-C-T	p.Leu469Leu	synonymous	ABCA13	2	79728	2.50853E-5	39864	0	0.00125
7-48285153-T-C	p.Phe479Leu	missense	ABCA13	31	79890	3.88034E-4	39945	0	1.91107E-4
7-48285167-A-G	p.Gln483Gln	synonymous	ABCA13	1026	79912	0.0128391	39956	10	0.0594159
7-48285168-T-C	p.Leu484Leu	synonymous	ABCA13	2	79924	2.50238E-5	39962	0	0.00151057
7-48285182-G-A	p.Lys488Lys	synonymous	ABCA13	1	79936	1.251E-5	39968	0	NA
7-48285188-G-A	p.Val490Val	synonymous	ABCA13	3	79928	3.75338E-5	39964	0	8.10747E-6
7-48285208-A-G	p.Gln497Arg	missense+splice_region	ABCA13	2	79802	2.5062E-5	39901	0	NA
7-48285215-G-A	c.*710+6G>A	splice_region	ABCA13	1	79710	1.25455E-5	39855	0	NA
7-48285467-C-T	p.Ala500Val	missense	ABCA13	25	80026	3.12398E-4	40013	0	9.55901E-4
7-48285468-G-A	p.Ala500Ala	synonymous	ABCA13	14	80040	1.74913E-4	40020	0	9.5584E-5
7-48285473-A-G	p.Asn502Ser	missense	ABCA13	1	80062	1.24903E-5	40031	0	1.70891E-5
7-48285485-C-T	p.Pro506Leu	missense	ABCA13	31566	79872	0.395207	39936	6372	0.448958
7-48285489-T-C	p.Asn507Asn	synonymous	ABCA13	1	80106	1.24835E-5	40053	0	2.50217E-5
7-48285493-C-A	p.Arg509Ser	missense	ABCA13	2	80120	2.49626E-5	40060	0	NA
7-48285507-G-T	p.Lys513Asn	missense	ABCA13	1	80134	1.24791E-5	40067	0	3.18512E-5
7-48285509-A-G	p.Glu514Gly	missense	ABCA13	4	80136	4.99151E-5	40068	0	NA
7-48285513-C-G	p.Val515Val	synonymous	ABCA13	2	80148	2.49538E-5	40074	0	NA
7-48285519-G-A	p.Leu517Leu	synonymous	ABCA13	1	80124	1.24807E-5	40062	0	3.19366E-5
7-48285522-G-A	p.Pro518Pro	synonymous	ABCA13	3	80116	3.74457E-5	40058	0	0.00125
7-48285522-G-T	p.Pro518Pro	synonymous	ABCA13	1	80116	1.24819E-5	40058	0	4.02269E-6
7-48285532-T-G	p.Ser522Ala	missense	ABCA13	1	80144	1.24775E-5	40072	0	NA
7-48285550-C-T	p.Leu528Phe	missense	ABCA13	1	80104	1.24838E-5	40052	0	NA
7-48285555-G-A	p.Gln529Gln	synonymous	ABCA13	1	80092	1.24856E-5	40046	0	4.01748E-6
7-48285558-A-G	p.Gly530Gly	synonymous	ABCA13	45	80068	5.62022E-4	40034	0	0.00101969
7-48285560-T-G	p.Leu531Arg	missense	ABCA13	1	80072	1.24888E-5	40036	0	1.674E-5
7-48285583-GA-TT	p.Glu539Leu	missense	ABCA13	2	80016	2.4995E-5	40008	0	NA
7-48285584-A-C	p.Glu539Ala	missense	ABCA13	2	80014	2.49956E-5	40007	0	NA
7-48285585-G-A	p.Glu539Glu	synonymous	ABCA13	2	80000	2.5E-5	40000	0	4.01845E-6
7-48285587-C-T	p.Thr540Met	missense	ABCA13	2	79970	2.50094E-5	39985	0	3.18674E-5
7-48285591-T-G	p.Ser541Arg	missense	ABCA13	1	79980	1.25031E-5	39990	0	4.01936E-6
7-48285604-C-A	p.Leu546Ile	missense	ABCA13	1	79958	1.25066E-5	39979	0	8.54E-6
7-48285606-A-G	p.Leu546Leu	synonymous	ABCA13	2	79950	2.50156E-5	39975	0	4.42414E-5
7-48285627-T-C	p.Ala553Ala	splice_region+synonymous	ABCA13	2	79830	2.50532E-5	39915	0	NA
7-48285628-G-C	c.*878+1G>C	splice_donor	ABCA13	1	79816	1.25288E-5	39908	0	8.85269E-6
7-48287831-T-C	c.*879-5T>C	splice_region	ABCA13	2	79538	2.51452E-5	39769	0	9.41957E-6
7-48287839-C-T	p.Arg555Cys	missense	ABCA13	1	79622	1.25593E-5	39811	0	NA
7-48287840-G-A	p.Arg555His	missense	ABCA13	10758	78924	0.136308	39462	725	0.17582
7-48287849-A-G	p.Gln558Arg	missense	ABCA13	1	79706	1.25461E-5	39853	0	4.0282E-6
7-48287853-G-A	p.Glu559Glu	synonymous	ABCA13	2	79736	2.50828E-5	39868	0	NA
7-48287857-A-G	p.Ile561Val	missense	ABCA13	14	79756	1.75535E-4	39878	0	6.46635E-4
7-48287861-C-T	p.Thr562Ile	missense	ABCA13	1	79760	1.25376E-5	39880	0	NA
7-48287872-AAT-A	p.Met567fs	frameshift	ABCA13	1	79830	1.25266E-5	39915	0	NA
7-48287897-A-T	p.Glu574Val	missense	ABCA13	2	79906	2.50294E-5	39953	0	4.01732E-6
7-48287902-T-C	p.Leu576Leu	synonymous	ABCA13	1	79930	1.25109E-5	39965	0	5.03525E-4
7-48287911-C-T	p.Gln579*	stop_gained	ABCA13	1	79924	1.25119E-5	39962	0	NA
7-48287914-G-A	p.Glu580Lys	missense	ABCA13	2	79898	2.50319E-5	39949	0	3.3184E-5
7-48287939-C-A	p.Ala588Glu	missense	ABCA13	1	79884	1.25182E-5	39942	0	1.60715E-5
7-48287956-C-T	p.Arg594Trp	missense	ABCA13	14	79910	1.75197E-4	39955	0	9.64343E-5
7-48287969-T-A	p.Leu598Gln	missense	ABCA13	1	79914	1.25135E-5	39957	0	NA
7-48287970-G-A	p.Leu598Leu	synonymous	ABCA13	4	79914	5.00538E-5	39957	0	3.31912E-5
7-48287973-G-A	p.Leu599Leu	synonymous	ABCA13	1	79904	1.2515E-5	39952	0	NA
7-48287988-TC-T	p.Pro605fs	frameshift	ABCA13	2	79832	2.50526E-5	39916	0	NA
7-48287991-T-G	p.Pro605Pro	synonymous	ABCA13	1	79792	1.25326E-5	39896	0	NA
7-48288001-G-A	p.Val609Ile	missense	ABCA13	2	79678	2.5101E-5	39839	0	NA
7-48288002-TC-T	p.Ser611fs	frameshift	ABCA13	1	79672	1.25515E-5	39836	0	NA
7-48288028-C-G	p.Leu618Val	missense	ABCA13	2	79248	2.52372E-5	39624	0	5.04032E-4
7-48288802-A-T	c.*1085-7A>T	splice_region	ABCA13	2	79612	2.51218E-5	39806	0	1.68112E-5
7-48288807-A-G	c.*1085-2A>G	splice_acceptor	ABCA13	1	79730	1.25423E-5	39865	0	NA
7-48288817-A-G	p.His625Arg	missense	ABCA13	1	79868	1.25207E-5	39934	0	2.01732E-5
7-48288820-C-T	p.Thr626Ile	missense	ABCA13	1	79876	1.25194E-5	39938	0	9.5645E-5
7-48288829-A-G	p.Lys629Arg	missense	ABCA13	1	79992	1.25013E-5	39996	0	NA
7-48288831-A-G	p.Thr630Ala	missense	ABCA13	2	80004	2.49987E-5	40002	0	8.06452E-6
7-48288868-C-T	p.Ala642Val	missense	ABCA13	2	80134	2.49582E-5	40067	0	1.66014E-5
7-48288882-A-G	p.Ile647Val	missense	ABCA13	1	80192	1.24701E-5	40096	0	2.48868E-5
7-48288897-G-A	p.Glu652Lys	missense	ABCA13	414	80196	0.00516235	40098	7	0.0101625
7-48288900-G-A	p.Val653Met	missense	ABCA13	1	80218	1.2466E-5	40109	0	1.65815E-5
7-48288904-C-T	p.Ala654Val	missense	ABCA13	1	80204	1.24682E-5	40102	0	6.37186E-5
7-48288912-G-A	p.Val657Ile	missense	ABCA13	1	80208	1.24676E-5	40104	0	1.6061E-5
7-48288920-G-T	p.Met659Ile	missense	ABCA13	17	80174	2.12039E-4	40087	0	1.16057E-4
7-48288926-G-C	p.Glu661Asp	missense	ABCA13	1	80168	1.24738E-5	40084	0	4.1447E-5
7-48288928-G-A	p.Ser662Asn	missense	ABCA13	1	80154	1.2476E-5	40077	0	NA
7-48288946-T-C	p.Leu668Ser	missense+splice_region	ABCA13	1	80078	1.24878E-5	40039	0	3.21611E-5
7-48308587-G-A	p.Glu672Glu	synonymous	ABCA13	2	76612	2.61056E-5	38306	0	1.24437E-5
7-48308588-G-A	p.Glu673Lys	missense	ABCA13	28	76722	3.64954E-4	38361	0	1.60318E-4
7-48308592-C-T	p.Ser674Phe	missense	ABCA13	11	76956	1.42939E-4	38478	0	1.27885E-4
7-48308598-G-GT	p.Glu678fs	frameshift	ABCA13	1	77216	1.29507E-5	38608	0	NA
7-48308607-A-C	p.Glu679Ala	missense	ABCA13	1	77568	1.28919E-5	38784	0	9.57365E-5
7-48308612-A-G	p.Met681Val	missense	ABCA13	1	77750	1.28617E-5	38875	0	6.3804E-5
7-48308659-C-T	p.Asn696Asn	synonymous	ABCA13	1	77358	1.29269E-5	38679	0	5.26793E-5
7-48308659-C-G	p.Asn696Lys	missense	ABCA13	1	77358	1.29269E-5	38679	0	NA
7-48311383-G-A	c.*1340-1G>A	splice_acceptor	ABCA13	2	75260	2.65745E-5	37630	0	NA
7-48311384-G-A	p.Arg707Arg	splice_region+synonymous	ABCA13	1	75290	1.3282E-5	37645	0	7.13674E-5
7-48311386-C-T	p.Ala708Val	missense+splice_region	ABCA13	1	76134	1.31347E-5	38067	0	7.92833E-6
7-48311390-A-C	p.Leu709Phe	missense	ABCA13	2	76530	2.61335E-5	38265	0	7.77532E-6
7-48311405-C-A	p.His714Gln	missense	ABCA13	1	78674	1.27107E-5	39337	0	NA
7-48311412-A-C	p.Met717Leu	missense	ABCA13	1	79120	1.2639E-5	39560	0	6.21157E-6
7-48311415-A-G	p.Met718Val	missense	ABCA13	1	79242	1.26196E-5	39621	0	NA
7-48311417-G-A	p.Met718Ile	missense	ABCA13	1	79288	1.26122E-5	39644	0	3.19366E-5
7-48311432-C-T	p.His723His	synonymous	ABCA13	1	79758	1.25379E-5	39879	0	5.3408E-6
7-48311434-C-T	p.Thr724Ile	missense	ABCA13	2	79866	2.50419E-5	39933	0	NA
7-48311434-C-A	p.Thr724Asn	missense	ABCA13	1	79866	1.2521E-5	39933	0	NA
7-48311436-C-T	p.Leu725Phe	missense	ABCA13	1	79892	1.25169E-5	39946	0	NA
7-48311441-G-A	p.Glu726Glu	synonymous	ABCA13	1	79956	1.25069E-5	39978	0	3.05008E-5
7-48311450-A-G	p.Gln729Gln	synonymous	ABCA13	1	80012	1.24981E-5	40006	0	4.60126E-6
7-48311450-A-T	p.Gln729His	missense	ABCA13	1	80012	1.24981E-5	40006	0	NA
7-48311454-A-C	p.Asn731His	missense	ABCA13	1	80040	1.24938E-5	40020	0	6.97512E-5
7-48311477-A-AT	p.Glu741fs	frameshift	ABCA13	1	80096	1.2485E-5	40048	0	NA
7-48311478-T-G	p.Phe739Val	missense	ABCA13	2	80106	2.49669E-5	40053	0	NA
7-48311481-T-C	p.Phe740Leu	missense	ABCA13	7	80112	8.73777E-5	40056	0	0.00100705
7-48311485-A-C	p.Glu741Ala	missense	ABCA13	139	80110	0.00173511	40055	4	0.00669736
7-48311495-G-A	p.Leu744Leu	synonymous	ABCA13	4	80136	4.99151E-5	40068	0	9.50137E-6
7-48311531-T-C	p.Ser756Ser	synonymous	ABCA13	3	80170	3.74205E-5	40085	0	NA
7-48311533-T-G	p.Phe757Cys	missense	ABCA13	10	80166	1.24741E-4	40083	0	2.4908E-4
7-48311535-C-T	p.His758Tyr	missense	ABCA13	1	80164	1.24744E-5	40082	0	NA
7-48311550-C-A	p.Leu763Ile	missense	ABCA13	1	80142	1.24779E-5	40071	0	NA
7-48311550-C-G	p.Leu763Val	missense	ABCA13	2	80142	2.49557E-5	40071	0	NA
7-48311552-C-T	p.Leu763Leu	synonymous	ABCA13	2	80134	2.49582E-5	40067	0	NA
7-48311563-T-G	p.Ile767Ser	missense	ABCA13	12291	79916	0.153799	39958	956	0.17406
7-48311572-T-C	p.Ile770Thr	missense	ABCA13	13	80144	1.62208E-4	40072	0	1.42252E-4
7-48311584-G-C	p.Trp774Ser	missense	ABCA13	3	80128	3.74401E-5	40064	0	6.37552E-5
7-48311584-G-A	p.Trp774*	stop_gained	ABCA13	1	80128	1.248E-5	40064	0	NA
7-48311585-G-A	p.Trp774*	stop_gained	ABCA13	3	80106	3.74504E-5	40053	0	0.00125
7-48311587-C-A	p.Thr775Lys	missense	ABCA13	2	80114	2.49644E-5	40057	0	NA
7-48311598-A-C	p.Lys779Gln	missense	ABCA13	12	80092	1.49828E-4	40046	0	0.00302115
7-48311601-A-C	p.Ser780Arg	missense	ABCA13	1	80096	1.2485E-5	40048	0	NA
7-48311602-G-A	p.Ser780Asn	missense	ABCA13	1037	80084	0.0129489	40042	10	0.0579053
7-48311611-G-C	p.Arg783Thr	missense	ABCA13	1	80094	1.24853E-5	40047	0	3.18756E-5
7-48311632-C-T	p.Ala790Val	missense	ABCA13	1	80100	1.24844E-5	40050	0	4.02013E-6
7-48311641-T-G	p.Leu793Arg	missense	ABCA13	10	80130	1.24797E-4	40065	0	5.86921E-4
7-48311641-T-C	p.Leu793Pro	missense	ABCA13	1	80130	1.24797E-5	40065	0	NA
7-48311653-G-A	p.Gly797Asp	missense	ABCA13	2	80150	2.49532E-5	40075	0	2.09055E-4
7-48311657-C-T	p.Asn798Asn	synonymous	ABCA13	1	80150	1.24766E-5	40075	0	4.18186E-5
7-48311658-G-A	p.Glu799Lys	missense	ABCA13	3057	80116	0.0381572	40058	65	0.0475
7-48311658-G-C	p.Glu799Gln	missense	ABCA13	2	80150	2.49532E-5	40075	0	2.50954E-5
7-48311666-T-C	p.Ile801Ile	synonymous	ABCA13	2	80156	2.49513E-5	40078	0	2.01055E-5
7-48311669-GA-G	p.Met804fs	frameshift	ABCA13	1	80152	1.24763E-5	40076	0	8.04272E-6
7-48311670-A-C	p.Lys803Gln	missense	ABCA13	4	80160	4.99002E-5	40080	0	NA
7-48311681-T-G	p.Thr806Thr	synonymous	ABCA13	1	80176	1.24726E-5	40088	0	8.38462E-6
7-48311684-C-T	p.Leu807Leu	synonymous	ABCA13	27	80150	3.36868E-4	40075	0	0.00274165
7-48311685-G-A	p.Gly808Arg	missense	ABCA13	4	80144	4.99102E-5	40072	0	3.18756E-5
7-48311701-G-A	p.Arg813Lys	missense	ABCA13	1	80158	1.24754E-5	40079	0	8.42119E-6
7-48311707-A-G	p.Glu815Gly	missense	ABCA13	2	80152	2.49526E-5	40076	0	3.18471E-5
7-48311710-C-A	p.Pro816Gln	missense	ABCA13	1	80150	1.24766E-5	40075	0	NA
7-48311715-A-C	p.Asn818His	missense	ABCA13	1	80150	1.24766E-5	40075	0	3.18512E-5
7-48311777-G-A	p.Trp838*	stop_gained	ABCA13	1	79984	1.25025E-5	39992	0	8.56384E-6
7-48311790-T-A	p.Ser843Thr	missense	ABCA13	1	79942	1.25091E-5	39971	0	4.06997E-6
7-48311797-G-GA	p.Arg847fs	frameshift	ABCA13	1	79934	1.25103E-5	39967	0	NA
7-48311803-G-T	p.Arg847Ile	missense	ABCA13	73	79914	9.13482E-4	39957	3	0.00193402
7-48311833-T-A	p.Leu857*	stop_gained	ABCA13	14	79812	1.75412E-4	39906	0	0.00125
7-48311836-A-T	p.Asn858Ile	missense	ABCA13	1	79788	1.25332E-5	39894	0	NA
7-48311844-G-A	p.Val861Ile	missense	ABCA13	2	79760	2.50752E-5	39880	0	NA
7-48311858-G-A	p.Glu865Glu	synonymous	ABCA13	1	79760	1.25376E-5	39880	0	NA
7-48311868-A-G	p.Thr869Ala	missense	ABCA13	1	79744	1.25401E-5	39872	0	3.1837E-5
7-48311872-G-A	p.Ser870Asn	missense	ABCA13	2	79734	2.50834E-5	39867	0	9.55597E-5
7-48311883-T-C	p.Ser874Pro	missense	ABCA13	1	79666	1.25524E-5	39833	0	NA
7-48311884-C-T	p.Ser874Phe	missense	ABCA13	107	79660	0.00134321	39830	1	0.00235759
7-48311885-C-G	p.Ser874Ser	synonymous	ABCA13	2	79668	2.51042E-5	39834	0	NA
7-48311897-T-C	p.His878His	synonymous	ABCA13	5	79608	6.28078E-5	39804	0	9.12439E-5
7-48311903-T-A	p.Asp880Glu	missense	ABCA13	7	79548	8.79972E-5	39774	0	3.1835E-4
7-48311907-C-T	p.Pro882Ser	missense	ABCA13	14	79502	1.76096E-4	39751	0	9.65111E-5
7-48311915-A-G	p.Ser884Ser	synonymous	ABCA13	16	79484	2.01298E-4	39742	0	3.61981E-4
7-48311916-C-T	p.Pro885Ser	missense	ABCA13	1	79468	1.25837E-5	39734	0	4.02191E-6
7-48311930-A-G	p.Ile889Met	missense	ABCA13	1	79410	1.25929E-5	39705	0	8.28912E-6
7-48311937-G-A	p.Val892Ile	missense	ABCA13	1	79352	1.26021E-5	39676	0	4.02363E-6
7-48311940-C-T	p.Arg893Cys	missense	ABCA13	4	79342	5.04147E-5	39671	0	6.37105E-5
7-48311941-G-A	p.Arg893His	missense	ABCA13	34	79326	4.28611E-4	39663	0	8.28765E-4
7-48311953-C-T	p.Ala897Val	missense	ABCA13	1	79356	1.26014E-5	39678	0	4.02405E-6
7-48311955-A-G	p.Ile898Val	missense	ABCA13	2	79350	2.52048E-5	39675	0	8.29036E-6
7-48311958-A-G	p.Ile899Val	missense	ABCA13	1	79394	1.25954E-5	39697	0	3.18552E-5
7-48311969-C-G	p.Leu902Leu	synonymous	ABCA13	5	79400	6.29723E-5	39700	0	1.27445E-4
7-48312006-G-A	p.Glu915Lys	missense	ABCA13	1	79688	1.25489E-5	39844	0	8.29559E-6
7-48312023-C-G	p.Val920Val	synonymous	ABCA13	1	79776	1.25351E-5	39888	0	NA
7-48312026-C-T	p.Tyr921Tyr	synonymous	ABCA13	1	79794	1.25323E-5	39897	0	6.25E-4
7-48312027-G-A	p.Ala922Thr	missense	ABCA13	1162	79772	0.0145665	39886	41	0.0316843
7-48312027-G-T	p.Ala922Ser	missense	ABCA13	1	79790	1.25329E-5	39895	0	NA
7-48312028-C-T	p.Ala922Val	missense	ABCA13	1	79802	1.2531E-5	39901	0	NA
7-48312030-A-C	p.Ile923Leu	missense	ABCA13	1	79804	1.25307E-5	39902	0	8.04233E-6
7-48312039-G-A	p.Ala926Thr	missense	ABCA13	2	79790	2.50658E-5	39895	0	NA
7-48312052-T-C	p.Phe930Ser	missense	ABCA13	1	79774	1.25354E-5	39887	0	1.60884E-5
7-48312056-A-C	p.Ser931Ser	synonymous	ABCA13	8	79764	1.00296E-4	39882	0	0.0020141
7-48312066-G-A	p.Glu935Lys	missense	ABCA13	1	79708	1.25458E-5	39854	0	NA
7-48312084-G-C	p.Val941Leu	missense	ABCA13	4377	79610	0.0549805	39805	139	0.07
7-48312096-T-C	p.Leu945Leu	synonymous	ABCA13	14	79644	1.75782E-4	39822	0	3.18492E-5
7-48312101-T-A	p.Thr946Thr	synonymous	ABCA13	1	79626	1.25587E-5	39813	0	8.3051E-6
7-48312104-C-T	p.His947His	synonymous	ABCA13	1	79644	1.25559E-5	39822	0	2.41392E-5
7-48312105-A-G	p.Ile948Val	missense	ABCA13	2	79634	2.51149E-5	39817	0	8.3062E-6
7-48312109-A-G	p.His949Arg	missense	ABCA13	1	79632	1.25578E-5	39816	0	NA
7-48312111-C-G	p.Leu950Val	missense	ABCA13	1	79598	1.25631E-5	39799	0	NA
7-48312164-A-G	p.Ser967Ser	synonymous	ABCA13	1	79418	1.25916E-5	39709	0	1.59317E-4
7-48312171-C-T	p.Arg970*	stop_gained	ABCA13	2	79388	2.51927E-5	39694	0	2.50505E-5
7-48312172-G-A	p.Arg970Gln	missense	ABCA13	3	79390	3.77881E-5	39695	0	5.01245E-5
7-48312196-T-G	p.Ile978Ser	missense	ABCA13	1	79258	1.2617E-5	39629	0	8.06712E-6
7-48312200-G-C	p.Gln979His	missense	ABCA13	221	79236	0.00278914	39618	1	0.0119048
7-48312207-G-GGCTCTT	p.Ser983_Ser984insCysSer	disruptive_inframe_insertion	ABCA13	6	79178	7.57786E-5	39589	0	6.36862E-5
7-48312214-C-T	p.Ser984Leu	missense	ABCA13	1	79152	1.26339E-5	39576	0	8.57736E-6
7-48312215-G-A	p.Ser984Ser	synonymous	ABCA13	405	79138	0.00511764	39569	0	0.00956697
7-48312222-T-C	p.Phe987Leu	missense	ABCA13	1	79132	1.26371E-5	39566	0	NA
7-48312230-A-G	p.Thr989Thr	synonymous	ABCA13	1	79086	1.26445E-5	39543	0	NA
7-48312245-C-A	p.His994Gln	missense	ABCA13	2	79010	2.53133E-5	39505	0	3.18471E-5
7-48312246-A-G	p.Ile995Val	missense	ABCA13	5	79014	6.32799E-5	39507	0	NA
7-48312246-A-T	p.Ile995Phe	missense	ABCA13	1	79014	1.2656E-5	39507	0	NA
7-48312252-G-T	p.Asp997Tyr	missense	ABCA13	2	79002	2.53158E-5	39501	0	NA
7-48312252-G-C	p.Asp997His	missense	ABCA13	4	79002	5.06316E-5	39501	0	8.99345E-5
7-48312259-T-C	p.Ile999Thr	missense	ABCA13	1	79118	1.26393E-5	39559	0	2.84722E-5
7-48312260-A-G	p.Ile999Met	missense	ABCA13	18	79126	2.27485E-4	39563	0	1.91071E-4
7-48312262-A-T	p.Lys1000Ile	missense	ABCA13	11	79146	1.38984E-4	39573	0	0.00125
7-48312264-C-T	p.Gln1001*	stop_gained	ABCA13	1	79140	1.26358E-5	39570	0	NA
7-48312268-T-A	p.Phe1002Tyr	missense	ABCA13	1	79184	1.26288E-5	39592	0	3.1841E-5
7-48312291-G-A	p.Ala1010Thr	missense	ABCA13	1	79424	1.25907E-5	39712	0	3.18613E-5
7-48312297-G-A	p.Ala1012Thr	missense	ABCA13	7	79476	8.80769E-5	39738	0	9.69161E-5
7-48312298-C-A	p.Ala1012Glu	missense	ABCA13	3	79486	3.77425E-5	39743	0	3.18634E-5
7-48312302-T-C	p.Phe1013Phe	synonymous	ABCA13	1	79534	1.25732E-5	39767	0	3.90839E-5
7-48312321-G-C	p.Val1020Leu	missense	ABCA13	2	79746	2.50796E-5	39873	0	NA
7-48312326-TG-T	p.Gly1023fs	frameshift	ABCA13	2	79782	2.50683E-5	39891	0	NA
7-48312354-C-G	p.Gln1031Glu	missense	ABCA13	3	79914	3.75404E-5	39957	0	6.37064E-5
7-48312360-T-C	p.Leu1033Leu	synonymous	ABCA13	1	79930	1.25109E-5	39965	0	NA
7-48312369-A-G	p.Ile1036Val	missense	ABCA13	3	79930	3.75328E-5	39965	0	1.10884E-5
7-48312392-G-A	p.Gln1043Gln	synonymous	ABCA13	1	79936	1.251E-5	39968	0	1.13368E-5
7-48312404-CAT-C	p.Met1048fs	frameshift	ABCA13	1	79890	1.25172E-5	39945	0	3.18451E-5
7-48312412-C-T	p.Thr1050Ile	missense	ABCA13	1	79868	1.25207E-5	39934	0	3.39328E-5
7-48312432-G-A	p.Val1057Met	missense	ABCA13	1	79856	1.25225E-5	39928	0	3.1839E-5
7-48312432-G-T	p.Val1057Leu	missense	ABCA13	34	79856	4.25766E-4	39928	1	0.00117122
7-48312445-C-T	p.Thr1061Ile	missense	ABCA13	1	79852	1.25232E-5	39926	0	5.03525E-4
7-48312453-GGCCTCAAACAGCT-G	p.Leu1065fs	frameshift	ABCA13	2	79870	2.50407E-5	39935	0	NA
7-48312454-G-A	p.Gly1064Asp	missense	ABCA13	1	79860	1.25219E-5	39930	0	NA
7-48312456-C-T	p.Leu1065Phe	missense	ABCA13	1	79866	1.2521E-5	39933	0	NA
7-48312461-A-G	p.Lys1066Lys	synonymous	ABCA13	1	79862	1.25216E-5	39931	0	NA
7-48312485-T-C	p.Asp1074Asp	synonymous	ABCA13	3	79878	3.75573E-5	39939	0	NA
7-48312489-C-T	p.Arg1076Cys	missense	ABCA13	1	79894	1.25166E-5	39947	0	2.11439E-5
7-48312490-G-A	p.Arg1076His	missense	ABCA13	1038	79864	0.0129971	39932	10	0.0589124
7-48312498-T-G	p.Leu1079Val	missense	ABCA13	3	79900	3.75469E-5	39950	0	NA
7-48312503-T-C	p.Phe1080Phe	synonymous	ABCA13	2	79918	2.50257E-5	39959	0	2.01203E-5
7-48312504-C-A	p.Gln1081Lys	missense	ABCA13	2	79916	2.50263E-5	39958	0	NA
7-48312514-G-A	p.Ser1084Asn	missense	ABCA13	1	79936	1.251E-5	39968	0	NA
7-48312517-A-C	p.Gln1085Pro	missense	ABCA13	2	79956	2.50138E-5	39978	0	9.5124E-6
7-48312518-ATTC-A	p.Phe1087del	conservative_inframe_deletion	ABCA13	1	79952	1.25075E-5	39976	0	NA
7-48312534-G-T	p.Val1091Leu	missense	ABCA13	1	79962	1.25059E-5	39981	0	NA
7-48312543-C-T	p.Leu1094Leu	synonymous	ABCA13	1	79946	1.25084E-5	39973	0	NA
7-48312555-A-G	p.Lys1098Glu	missense	ABCA13	1	79932	1.25106E-5	39966	0	4.03242E-6
7-48312559-G-A	p.Cys1099Tyr	missense	ABCA13	1	79914	1.25135E-5	39957	0	NA
7-48312585-T-C	p.Ser1108Pro	missense	ABCA13	1	79848	1.25238E-5	39924	0	3.40588E-5
7-48312588-TC-T	p.Val1110fs	frameshift	ABCA13	1	79840	1.2525E-5	39920	0	3.18593E-5
7-48312590-C-T	c.*2546C>T	splice_region	ABCA13	36	79824	4.50992E-4	39912	0	4.83438E-4
7-48312591-G-A	p.Val1110Ile	missense	ABCA13	18	79812	2.2553E-4	39906	0	0.00251762
7-48312598-A-G	p.Tyr1112Cys	missense	ABCA13	1	79802	1.2531E-5	39901	0	8.43298E-6
7-48312603-A-G	p.Thr1114Ala	missense	ABCA13	3	79754	3.76157E-5	39877	0	9.55475E-5
7-48312603-A-T	p.Thr1114Ser	missense	ABCA13	1	79754	1.25386E-5	39877	0	NA
7-48312606-AG-A	p.Ser1115fs	frameshift	ABCA13	1	79720	1.25439E-5	39860	0	1.20801E-5
7-48312607-G-C	p.Ser1115Thr	missense	ABCA13	1	79708	1.25458E-5	39854	0	4.02693E-6
7-48312630-C-G	p.Pro1123Ala	missense	ABCA13	1	79566	1.25682E-5	39783	0	3.18573E-5
7-48312637-C-A	p.Ala1125Glu	missense	ABCA13	3	79554	3.77102E-5	39777	0	2.54891E-4
7-48312649-C-T	p.Ser1129Leu	missense	ABCA13	2	79600	2.51256E-5	39800	0	2.23571E-4
7-48312651-A-G	p.Asn1130Asp	missense	ABCA13	2	79602	2.5125E-5	39801	0	NA
7-48312656-C-T	p.Leu1131Leu	synonymous	ABCA13	2	79648	2.51105E-5	39824	0	6.25E-4
7-48312657-T-TCAG	p.Ala1133dup	conservative_inframe_insertion	ABCA13	1	79646	1.25556E-5	39823	0	NA
7-48312660-G-A	p.Ala1133Thr	missense	ABCA13	1	79648	1.25552E-5	39824	0	NA
7-48312674-G-A	p.Val1137Val	synonymous	ABCA13	39823	79450	0.501233	39725	9927	0.538335
7-48312679-A-G	p.Asn1139Ser	missense	ABCA13	1	79772	1.25357E-5	39886	0	4.02198E-6
7-48312679-A-C	p.Asn1139Thr	missense	ABCA13	1	79772	1.25357E-5	39886	0	NA
7-48312703-C-T	p.Thr1147Ile	missense	ABCA13	2	79888	2.5035E-5	39944	0	4.01978E-6
7-48312704-C-T	p.Thr1147Thr	synonymous	ABCA13	1	79884	1.25182E-5	39942	0	6.64033E-5
7-48312705-G-A	p.Val1148Ile	missense	ABCA13	1	79888	1.25175E-5	39944	0	5.03525E-4
7-48312708-T-C	p.Ser1149Pro	missense	ABCA13	2	79888	2.5035E-5	39944	0	4.01936E-6
7-48312711-T-C	p.Trp1150Arg	missense	ABCA13	1	79906	1.25147E-5	39953	0	4.01913E-6
7-48312723-T-G	p.Trp1154Gly	missense	ABCA13	122	79900	0.00152691	39950	0	0.00215825
7-48312735-T-C	p.Trp1158Arg	missense	ABCA13	2	79868	2.50413E-5	39934	0	NA
7-48312743-C-G	p.Thr1160Thr	synonymous	ABCA13	2	79858	2.50445E-5	39929	0	NA
7-48312752-A-G	p.Gln1163Gln	synonymous	ABCA13	14	79858	1.75311E-4	39929	0	2.22987E-4
7-48312770-GA-G	p.Asn1170fs	frameshift	ABCA13	2	79816	2.50576E-5	39908	0	2.49256E-5
7-48312771-A-T	p.Asn1170Tyr	missense	ABCA13	3	79802	3.7593E-5	39901	0	3.18492E-5
7-48312774-G-A	p.Val1171Ile	missense	ABCA13	2	79790	2.50658E-5	39895	0	NA
7-48312783-T-G	p.Ser1174Ala	missense	ABCA13	1	79810	1.25298E-5	39905	0	NA
7-48312819-T-C	p.Leu1186Leu	synonymous	ABCA13	3	79868	3.7562E-5	39934	0	5.04032E-4
7-48312819-T-A	p.Leu1186Met	missense	ABCA13	1	79868	1.25207E-5	39934	0	4.02126E-6
7-48312820-T-A	p.Leu1186*	stop_gained	ABCA13	3	79868	3.7562E-5	39934	0	1.60871E-5
7-48312823-A-C	p.Glu1187Ala	missense	ABCA13	1	79842	1.25247E-5	39921	0	2.01081E-5
7-48312837-G-A	p.Val1192Ile	missense	ABCA13	7	79846	8.76688E-5	39923	0	1.27405E-4
7-48312851-C-T	p.Cys1196Cys	synonymous	ABCA13	1	79730	1.25423E-5	39865	0	NA
7-48312855-G-T	p.Gly1198Cys	missense	ABCA13	1	79692	1.25483E-5	39846	0	NA
7-48312860-A-G	p.Ile1199Met	missense	ABCA13	2	79668	2.51042E-5	39834	0	1.66867E-5
7-48312871-A-G	p.His1203Arg	missense	ABCA13	1	79574	1.25669E-5	39787	0	8.3492E-6
7-48312888-A-G	p.Ile1209Val	missense	ABCA13	5	79386	6.29834E-5	39693	0	6.85523E-5
7-48312907-A-G	p.Asn1215Ser	missense	ABCA13	1	79334	1.26049E-5	39667	0	NA
7-48312911-A-G	p.Val1216Val	synonymous	ABCA13	1	79308	1.26091E-5	39654	0	4.0333E-6
7-48312915-C-G	p.Gln1218Glu	missense	ABCA13	2	79308	2.52181E-5	39654	0	8.08636E-6
7-48312915-C-A	p.Gln1218Lys	missense	ABCA13	1	79310	1.26088E-5	39655	0	5.04032E-4
7-48312918-G-A	p.Ala1219Thr	missense	ABCA13	1	79352	1.26021E-5	39676	0	NA
7-48312922-A-G	p.Asn1220Ser	missense	ABCA13	2	79396	2.51902E-5	39698	0	8.38068E-6
7-48312923-TG-T	p.Asp1221fs	frameshift	ABCA13	24	79406	3.02244E-4	39703	0	5.09619E-4
7-48312937-G-A	p.Trp1225*	stop_gained	ABCA13	1	79434	1.25891E-5	39717	0	NA
7-48312939-G-A	p.Glu1226Lys	missense	ABCA13	2	79450	2.51731E-5	39725	0	8.05575E-6
7-48312969-G-A	p.Val1236Ile	missense	ABCA13	9	79392	1.13362E-4	39696	0	1.27584E-4
7-48312983-T-C	p.Asn1240Asn	synonymous	ABCA13	1	79346	1.2603E-5	39673	0	8.06413E-6
7-48312986-A-T	p.Ala1241Ala	synonymous	ABCA13	1	79318	1.26075E-5	39659	0	NA
7-48312990-G-A	p.Val1243Ile	missense	ABCA13	3	79264	3.78482E-5	39632	0	9.55657E-5
7-48312997-T-TA	p.Leu1248fs	frameshift	ABCA13	1	79190	1.26279E-5	39595	0	NA
7-48312999-A-G	p.Lys1246Glu	missense	ABCA13	3	79160	3.78979E-5	39580	0	1.74605E-5
7-48313000-A-G	p.Lys1246Arg	missense	ABCA13	37	79156	4.67431E-4	39578	0	4.68452E-4
7-48313003-A-T	p.Lys1247Ile	missense	ABCA13	25	79130	3.15936E-4	39565	0	5.73504E-4
7-48313005-C-G	p.Leu1248Val	missense	ABCA13	1	79114	1.264E-5	39557	0	3.18674E-5
7-48313020-G-A	p.Val1253Met	missense	ABCA13	2	78872	2.53575E-5	39436	0	3.63418E-5
7-48313022-G-C	p.Val1253Val	synonymous	ABCA13	1	78822	1.26868E-5	39411	0	4.05337E-6
7-48313025-G-C	p.Glu1254Asp	missense	ABCA13	1	78752	1.26981E-5	39376	0	NA
7-48313033-T-A	p.Leu1257His	missense	ABCA13	3	78660	3.81388E-5	39330	0	3.18756E-5
7-48313053-C-A	p.Leu1264Met	missense	ABCA13	1	78542	1.2732E-5	39271	0	NA
7-48313070-A-G	p.Thr1269Thr	synonymous	ABCA13	3	78668	3.81349E-5	39334	0	NA
7-48313084-A-G	p.Glu1274Gly	missense	ABCA13	4	78804	5.07588E-5	39402	0	7.30873E-4
7-48313084-A-C	p.Glu1274Ala	missense	ABCA13	3	78804	3.80691E-5	39402	0	1.30629E-5
7-48313091-A-C	p.Thr1276Thr	synonymous	ABCA13	1739	78902	0.02204	39451	73	0.0422378
7-48313098-G-T	p.Glu1279*	stop_gained	ABCA13	1	79004	1.26576E-5	39502	0	NA
7-48313105-T-A	p.Leu1281*	stop_gained	ABCA13	6	79116	7.5838E-5	39558	0	1.81932E-4
7-48313119-G-A	p.Glu1286Lys	missense	ABCA13	1	79292	1.26116E-5	39646	0	1.95626E-5
7-48313126-T-C	p.Phe1288Ser	missense	ABCA13	1	79356	1.26014E-5	39678	0	3.75629E-5
7-48313129-T-C	p.Ile1289Thr	missense	ABCA13	2	79398	2.51896E-5	39699	0	3.18573E-5
7-48313138-G-A	p.Ser1292Asn	missense	ABCA13	1	79448	1.25868E-5	39724	0	NA
7-48313139-C-T	p.Ser1292Ser	synonymous	ABCA13	1	79446	1.25872E-5	39723	0	5.03875E-6
7-48313144-C-T	p.Thr1294Ile	missense	ABCA13	1	79464	1.25843E-5	39732	0	9.56145E-5
7-48313155-A-G	p.Ile1298Val	missense	ABCA13	1749	79500	0.022	39750	72	0.0422616
7-48313156-T-C	p.Ile1298Thr	missense	ABCA13	2	79528	2.51484E-5	39764	0	5.06088E-6
7-48313157-A-G	p.Ile1298Met	missense	ABCA13	2	79522	2.51503E-5	39761	0	1.51243E-5
7-48313167-C-T	p.Leu1302Leu	synonymous	ABCA13	12	79514	1.50917E-4	39757	0	5.04541E-4
7-48313180-A-G	p.Asn1306Ser	missense	ABCA13	1	79460	1.25849E-5	39730	0	NA
7-48313193-AAAT-A	p.Asn1312del	conservative_inframe_deletion	ABCA13	1	79374	1.25986E-5	39687	0	3.18552E-5
7-48313213-G-A	p.Gly1317Glu	missense	ABCA13	2	79136	2.52729E-5	39568	0	NA
7-48313231-T-A	p.Ile1323Asn	missense	ABCA13	1	78896	1.26749E-5	39448	0	NA
7-48313244-A-G	p.Leu1327Leu	synonymous	ABCA13	5	78788	6.34614E-5	39394	0	3.18512E-5
7-48313256-A-G	p.Ile1331Met	missense	ABCA13	1029	78766	0.013064	39383	10	0.0589124
7-48313274-A-G	p.Val1337Val	synonymous	ABCA13	15	78896	1.90124E-4	39448	0	0.00100705
7-48313279-A-T	p.His1339Leu	missense	ABCA13	1	78924	1.26704E-5	39462	0	3.18451E-5
7-48313284-C-T	p.Arg1341*	stop_gained	ABCA13	2	78936	2.5337E-5	39468	0	6.30549E-5
7-48313285-G-A	p.Arg1341Gln	missense	ABCA13	1	78964	1.2664E-5	39482	0	1.22609E-5
7-48313302-G-C	p.Ala1347Pro	missense	ABCA13	1	79276	1.26142E-5	39638	0	3.18593E-5
7-48313303-CTGA-C	p.Asp1348del	conservative_inframe_deletion	ABCA13	1	79292	1.26116E-5	39646	0	NA
7-48313320-G-C	p.Val1353Leu	missense	ABCA13	1	79570	1.25676E-5	39785	0	NA
7-48313330-G-A	p.Cys1356Tyr	missense	ABCA13	33	79690	4.14105E-4	39845	0	4.55818E-4
7-48313341-G-A	p.Asp1360Asn	missense	ABCA13	118	79842	0.00147792	39921	0	0.00152973
7-48313342-A-T	p.Asp1360Val	missense	ABCA13	1	79864	1.25213E-5	39932	0	4.10769E-6
7-48313362-A-G	p.Thr1367Ala	missense	ABCA13	1	80034	1.24947E-5	40017	0	NA
7-48313362-A-T	p.Thr1367Ser	missense	ABCA13	1	80034	1.24947E-5	40017	0	NA
7-48313374-A-C	p.Met1371Leu	missense	ABCA13	1	80088	1.24863E-5	40044	0	3.18532E-5
7-48313379-A-T	p.Leu1372Phe	missense	ABCA13	3	80106	3.74504E-5	40053	0	9.91552E-5
7-48313380-C-T	p.Arg1373Cys	missense	ABCA13	3	80106	3.74504E-5	40053	0	3.18634E-5
7-48313381-G-T	p.Arg1373Leu	missense	ABCA13	5	80118	6.24079E-5	40059	0	4.14092E-4
7-48313381-G-A	p.Arg1373His	missense	ABCA13	9	80118	1.12334E-4	40059	0	1.59266E-4
7-48313390-A-G	p.Asp1376Gly	missense	ABCA13	1	80112	1.24825E-5	40056	0	NA
7-48313393-C-T	p.Thr1377Met	missense	ABCA13	12	80122	1.49772E-4	40061	0	8.16073E-5
7-48313407-T-C	p.Phe1382Leu	missense	ABCA13	1	80126	1.24803E-5	40063	0	4.06808E-6
7-48313418-G-A	p.Glu1385Glu	synonymous	ABCA13	2	80148	2.49538E-5	40074	0	4.06342E-6
7-48313427-TAGC-T	p.Ser1390del	disruptive_inframe_deletion	ABCA13	12	80144	1.4973E-4	40072	0	2.54826E-4
7-48313429-G-A	p.Ser1389Asn	missense	ABCA13	2	80132	2.49588E-5	40066	0	NA
7-48313451-A-G	p.Val1396Val	synonymous	ABCA13	1	80148	1.24769E-5	40074	0	NA
7-48313481-G-C	p.Leu1406Phe	missense	ABCA13	2	80132	2.49588E-5	40066	0	4.04217E-6
7-48313484-G-A	p.Leu1407Leu	synonymous	ABCA13	1	80116	1.24819E-5	40058	0	2.42546E-5
7-48313504-A-C	p.Gln1414Pro	missense	ABCA13	1	80110	1.24828E-5	40055	0	NA
7-48313509-C-T	p.His1416Tyr	missense	ABCA13	10	80110	1.24828E-4	40055	0	6.25E-4
7-48313510-A-G	p.His1416Arg	missense	ABCA13	25117	79894	0.314379	39947	4124	0.353831
7-48313516-A-C	p.Gln1418Pro	missense	ABCA13	1	80132	1.24794E-5	40066	0	NA
7-48313534-T-C	p.Phe1424Ser	missense	ABCA13	1	80126	1.24803E-5	40063	0	NA
7-48313548-A-G	p.Asn1429Asp	missense	ABCA13	3	80124	3.7442E-5	40062	0	NA
7-48313563-A-G	p.Ile1434Val	missense	ABCA13	1035	80096	0.012922	40048	10	0.0579637
7-48313575-G-GT	p.Thr1439fs	frameshift	ABCA13	1	80078	1.24878E-5	40039	0	NA
7-48313578-A-G	p.Thr1439Ala	missense	ABCA13	2	80084	2.49738E-5	40042	0	8.11939E-6
7-48313594-TA-T	p.Lys1446fs	frameshift	ABCA13	3	80060	3.74719E-5	40030	0	3.1904E-5
7-48313599-A-AGCCATCTTCT	p.Lys1446fs	frameshift	ABCA13	1	80064	1.249E-5	40032	0	NA
7-48313600-A-T	p.Lys1446Ile	missense	ABCA13	4	80056	4.9965E-5	40028	0	4.06474E-6
7-48313601-A-C	p.Lys1446Asn	missense	ABCA13	1	80052	1.24919E-5	40026	0	8.52079E-6
7-48313605-CTT-C	p.Cys1449fs	frameshift	ABCA13	2	80052	2.49838E-5	40026	0	4.06431E-6
7-48313617-A-G	p.Asn1452Asp	missense	ABCA13	4	80018	4.99888E-5	40009	0	1.62153E-5
7-48313635-T-A	p.Cys1458Ser	missense	ABCA13	1	79984	1.25025E-5	39992	0	8.61237E-6
7-48313638-G-T	p.Val1459Phe	missense	ABCA13	1	79978	1.25034E-5	39989	0	NA
7-48313650-T-C	p.Leu1463Leu	synonymous	ABCA13	2	79926	2.50231E-5	39963	0	1.74929E-5
7-48313652-G-C	p.Leu1463Phe	missense	ABCA13	1	79928	1.25113E-5	39964	0	1.75193E-5
7-48313682-A-G	p.Val1473Val	synonymous	ABCA13	1	79848	1.25238E-5	39924	0	4.10324E-6
7-48313689-A-G	p.Thr1476Ala	missense	ABCA13	6	79844	7.51465E-5	39922	0	9.11195E-6
7-48313692-G-A	p.Val1477Ile	missense	ABCA13	2	79834	2.5052E-5	39917	0	3.18776E-5
7-48313698-G-A	p.Glu1479Lys	missense	ABCA13	2	79808	2.50601E-5	39904	0	NA
7-48313757-G-A	p.Lys1498Lys	synonymous	ABCA13	5875	79784	0.0736363	39892	229	0.102823
7-48313758-C-T	p.Gln1499*	stop_gained	ABCA13	1	79868	1.25207E-5	39934	0	9.2785E-6
7-48313768-T-A	p.Met1502Lys	missense	ABCA13	7	79868	8.76446E-5	39934	0	2.94475E-4
7-48313771-G-A	p.Ser1503Asn	missense	ABCA13	1	79870	1.25203E-5	39935	0	3.18634E-5
7-48313775-C-G	p.Ile1504Met	missense	ABCA13	3	79876	3.75582E-5	39938	0	3.18674E-5
7-48313778-C-T	p.Asn1505Asn	synonymous	ABCA13	13	79900	1.62703E-4	39950	0	2.23044E-4
7-48313779-A-C	p.Asn1506His	missense	ABCA13	2	79904	2.503E-5	39952	0	NA
7-48313786-C-A	p.Thr1508Lys	missense	ABCA13	6	79928	7.50676E-5	39964	0	1.27486E-4
7-48313788-A-G	p.Thr1509Ala	missense	ABCA13	1	79922	1.25122E-5	39961	0	4.0627E-6
7-48313789-C-A	p.Thr1509Lys	missense	ABCA13	1	79914	1.25135E-5	39957	0	3.18654E-5
7-48313804-C-T	p.Ala1514Val	missense	ABCA13	4	79898	5.00638E-5	39949	0	7.25401E-4
7-48313809-C-G	p.Gln1516Glu	missense	ABCA13	1	79914	1.25135E-5	39957	0	NA
7-48313814-C-T	p.Ser1517Ser	synonymous	ABCA13	1	79914	1.25135E-5	39957	0	NA
7-48313816-A-G	p.Asn1518Ser	missense	ABCA13	1	79918	1.25128E-5	39959	0	8.78009E-6
7-48313825-AT-A	p.Phe1522fs	frameshift	ABCA13	1	79902	1.25153E-5	39951	0	NA
7-48313833-G-A	p.Glu1524Lys	missense	ABCA13	2	79924	2.50238E-5	39962	0	NA
7-48313846-G-C	p.Arg1528Thr	missense	ABCA13	2	79914	2.50269E-5	39957	0	NA
7-48313848-C-G	p.Pro1529Ala	missense	ABCA13	1	79930	1.25109E-5	39965	0	2.5572E-5
7-48313852-T-A	p.Ile1530Lys	missense	ABCA13	1	79934	1.25103E-5	39967	0	NA
7-48313854-G-A	p.Glu1531Lys	missense	ABCA13	121	79928	0.00151386	39964	0	0.00121035
7-48313859-G-A	p.Met1532Ile	missense	ABCA13	4	79948	5.00325E-5	39974	0	3.18613E-5
7-48313881-T-C	p.Phe1540Leu	missense	ABCA13	5940	79916	0.074328	39958	235	0.10423
7-48313885-A-G	p.Gln1541Arg	missense	ABCA13	1	79992	1.25013E-5	39996	0	NA
7-48313893-T-C	p.Trp1544Arg	missense	ABCA13	1	80028	1.24956E-5	40014	0	8.05873E-5
7-48313895-G-A	p.Trp1544*	stop_gained	ABCA13	1	80026	1.24959E-5	40013	0	3.34661E-5
7-48313898-T-C	p.Leu1545Leu	synonymous	ABCA13	2	80036	2.49888E-5	40018	0	3.18492E-5
7-48313901-T-C	p.His1546His	synonymous	ABCA13	2	80060	2.49813E-5	40030	0	3.1841E-5
7-48313909-C-T	p.Thr1549Ile	missense	ABCA13	1	80080	1.24875E-5	40040	0	NA
7-48313919-G-T	p.Lys1552Asn	missense	ABCA13	1	80114	1.24822E-5	40057	0	1.61151E-5
7-48313927-A-G	p.Gln1555Arg	missense	ABCA13	7	80116	8.73733E-5	40058	0	3.1839E-4
7-48313942-G-T	p.Gly1560Val	missense	ABCA13	2	80120	2.49626E-5	40060	0	8.0588E-6
7-48313949-C-T	p.Tyr1562Tyr	synonymous	ABCA13	8704	79962	0.108852	39981	510	0.128689
7-48313950-T-G	p.Phe1563Val	missense	ABCA13	4	80128	4.99201E-5	40064	0	NA
7-48313993-T-A	p.Leu1577*	stop_gained	ABCA13	1	80050	1.24922E-5	40025	0	NA
7-48313997-A-T	p.Leu1578Phe	missense	ABCA13	1	80038	1.24941E-5	40019	0	NA
7-48313998-A-G	p.Asn1579Asp	missense	ABCA13	1	80038	1.24941E-5	40019	0	6.66433E-5
7-48314003-AT-A	p.Phe1581fs	frameshift	ABCA13	1	80006	1.24991E-5	40003	0	NA
7-48314008-C-T	p.Ala1582Val	missense	ABCA13	1	80014	1.24978E-5	40007	0	NA
7-48314014-G-C	p.Ser1584Thr	missense	ABCA13	1	79996	1.25006E-5	39998	0	6.3678E-5
7-48314027-G-A	p.Lys1588Lys	synonymous	ABCA13	1	79978	1.25034E-5	39989	0	0.00100705
7-48314030-T-G	p.Asp1589Glu	missense	ABCA13	1	79944	1.25088E-5	39972	0	8.312E-6
7-48314037-A-G	p.Ser1592Gly	missense	ABCA13	2	79890	2.50344E-5	39945	0	NA
7-48314041-T-C	p.Val1593Ala	missense	ABCA13	1	79858	1.25222E-5	39929	0	8.30579E-6
7-48314050-C-T	p.Ser1596Phe	missense	ABCA13	2	79784	2.50677E-5	39892	0	8.30634E-6
7-48314050-C-G	p.Ser1596Cys	missense	ABCA13	1	79784	1.25338E-5	39892	0	3.18492E-5
7-48314053-T-TCTGACATTTCTA	p.Ile1597_Tyr1598insTerHisPheTyr	stop_gained	ABCA13	1	79750	1.25392E-5	39875	0	NA
7-48314065-C-A	p.Ala1601Asp	missense	ABCA13	1	79562	1.25688E-5	39781	0	8.30551E-6
7-48314078-C-T	p.Ala1605Ala	synonymous	ABCA13	1	79382	1.25973E-5	39691	0	4.02453E-6
7-48314089-C-G	p.Ser1609Cys	missense	ABCA13	2	79082	2.52902E-5	39541	0	NA
7-48314096-C-A	p.Asp1611Glu	missense	ABCA13	1	78600	1.27226E-5	39300	0	2.0133E-5
7-48314109-C-T	p.Pro1616Ser	missense	ABCA13	13	77468	1.67811E-4	38734	0	3.65491E-4
7-48314114-A-T	p.Lys1617Asn	missense	ABCA13	3	77082	3.89196E-5	38541	0	8.30537E-6
7-48314133-A-T	p.Ile1624Leu	missense	ABCA13	1	76712	1.30358E-5	38356	0	6.63967E-5
7-48314143-C-T	p.Ala1627Val	missense	ABCA13	1	76696	1.30385E-5	38348	0	0.00125
7-48314151-C-G	p.Leu1630Val	missense	ABCA13	475	76686	0.00619409	38343	1	0.006875
7-48314158-T-G	p.Ile1632Ser	missense	ABCA13	1	76784	1.30235E-5	38392	0	NA
7-48314160-C-A	p.Gln1633Lys	missense	ABCA13	1	76782	1.30239E-5	38391	0	2.01522E-5
7-48314170-G-A	p.Arg1636Lys	missense	ABCA13	1	77210	1.29517E-5	38605	0	6.37064E-5
7-48314171-G-A	p.Arg1636Arg	synonymous	ABCA13	3	77232	3.8844E-5	38616	0	8.05685E-6
7-48314200-T-C	p.Val1646Ala	missense	ABCA13	2	79098	2.52851E-5	39549	0	NA
7-48314209-C-G	p.Thr1649Ser	missense	ABCA13	1	79306	1.26094E-5	39653	0	NA
7-48314212-G-T	p.Ser1650Ile	missense	ABCA13	2	79358	2.52022E-5	39679	0	NA
7-48314227-G-C	p.Gly1655Ala	missense	ABCA13	1	79614	1.25606E-5	39807	0	1.65653E-5
7-48314227-G-A	p.Gly1655Asp	missense	ABCA13	1	79614	1.25606E-5	39807	0	4.01916E-6
7-48314232-A-G	p.Met1657Val	missense	ABCA13	2	79698	2.50947E-5	39849	0	4.018E-6
7-48314248-A-C	p.Lys1662Thr	missense	ABCA13	1	79884	1.25182E-5	39942	0	NA
7-48314266-G-A	p.Arg1668His	missense	ABCA13	4	80054	4.99663E-5	40027	0	9.93772E-5
7-48314279-G-A	p.Lys1672Lys	synonymous	ABCA13	12266	79926	0.153467	39963	951	0.173789
7-48314284-A-G	p.Asp1674Gly	missense	ABCA13	1	80152	1.24763E-5	40076	0	NA
7-48314286-A-G	p.Ile1675Val	missense	ABCA13	1	80156	1.24757E-5	40078	0	8.28116E-6
7-48314287-T-C	p.Ile1675Thr	missense	ABCA13	1	80156	1.24757E-5	40078	0	8.02781E-6
7-48314291-C-T	p.Asp1676Asp	synonymous	ABCA13	1	80160	1.2475E-5	40080	0	NA
7-48314298-G-A	p.Val1679Met	missense	ABCA13	12	80200	1.49626E-4	40100	0	9.93838E-5
7-48314302-A-G	p.Asp1680Gly	missense	ABCA13	2	80204	2.49364E-5	40102	0	1.20403E-5
7-48314303-T-C	p.Asp1680Asp	synonymous	ABCA13	1	80208	1.24676E-5	40104	0	8.28226E-6
7-48314309-T-C	p.Leu1682Leu	synonymous	ABCA13	1	80228	1.24645E-5	40114	0	NA
7-48314318-T-C	p.Val1685Val	synonymous	ABCA13	1	80258	1.24598E-5	40129	0	1.20383E-5
7-48314330-A-G	p.Leu1689Leu	synonymous	ABCA13	1042	80302	0.012976	40151	10	0.0599194
7-48314347-A-G	p.Asn1695Ser	missense	ABCA13	4	80336	4.97909E-5	40168	0	3.1835E-5
7-48314355-A-T	p.Ser1698Cys	missense	ABCA13	3	80360	3.7332E-5	40180	0	9.55231E-5
7-48314356-G-C	p.Ser1698Thr	missense	ABCA13	3	80372	3.73264E-5	40186	0	8.42649E-5
7-48314359-T-C	p.Val1699Ala	missense	ABCA13	1	80362	1.24437E-5	40181	0	8.28391E-6
7-48314389-T-C	p.Leu1709Pro	missense	ABCA13	140	80424	0.00174077	40212	0	0.00353571
7-48314403-G-T	p.Glu1714*	stop_gained	ABCA13	1	80428	1.24335E-5	40214	0	8.02542E-6
7-48314412-GCAGACAGCTCA-G	p.Asp1718fs	frameshift	ABCA13	1	80414	1.24356E-5	40207	0	NA
7-48314436-G-A	p.Val1725Ile	missense	ABCA13	1	80388	1.24397E-5	40194	0	8.28459E-6
7-48314460-C-T	p.Arg1733Cys	missense	ABCA13	9	80322	1.12049E-4	40161	0	9.94266E-5
7-48314462-C-T	p.Arg1733Arg	synonymous	ABCA13	2	80318	2.4901E-5	40159	0	2.48562E-5
7-48314466-T-C	p.Phe1735Leu	missense	ABCA13	1	80304	1.24527E-5	40152	0	8.02555E-6
7-48314476-ATGT-A	p.Val1740del	disruptive_inframe_deletion	ABCA13	1	80274	1.24573E-5	40137	0	NA
7-48314482-T-C	p.Val1740Ala	missense	ABCA13	1	80264	1.24589E-5	40132	0	NA
7-48314529-C-CTCCT	p.Gln1758fs	frameshift	ABCA13	1	80302	1.2453E-5	40151	0	NA
7-48314532-C-T	p.Leu1757Leu	synonymous	ABCA13	8	80286	9.96438E-5	40143	0	9.55475E-5
7-48314534-G-T	p.Leu1757Leu	synonymous	ABCA13	1	80292	1.24545E-5	40146	0	NA
7-48314549-T-C	p.Gly1762Gly	synonymous	ABCA13	1	80294	1.24542E-5	40147	0	NA
7-48314561-T-C	p.Thr1766Thr	synonymous	ABCA13	1	80312	1.24514E-5	40156	0	8.29119E-6
7-48314578-TCTACAGCTTCACA-T	p.Tyr1773fs	frameshift	ABCA13	1	80304	1.24527E-5	40152	0	3.21177E-5
7-48314582-C-T	p.Tyr1773Tyr	synonymous	ABCA13	1	80300	1.24533E-5	40150	0	4.01487E-6
7-48314584-G-C	p.Ser1774Thr	missense	ABCA13	1	80312	1.24514E-5	40156	0	NA
7-48314591-A-C	p.Thr1776Thr	synonymous	ABCA13	2	80308	2.49041E-5	40154	0	2.49087E-5
7-48314592-C-T	p.Leu1777Phe	missense	ABCA13	10	80312	1.24514E-4	40156	0	5.03525E-4
7-48314593-T-G	p.Leu1777Arg	missense	ABCA13	1	80308	1.24521E-5	40154	0	NA
7-48314604-A-T	p.Ile1781Leu	missense	ABCA13	1	80276	1.2457E-5	40138	0	8.32113E-6
7-48314612-T-C	p.Ile1783Ile	synonymous	ABCA13	1	80260	1.24595E-5	40130	0	1.66856E-5
7-48314621-C-T	p.Ile1786Ile	synonymous	ABCA13	1	80186	1.2471E-5	40093	0	8.37802E-6
7-48314636-C-A	p.Phe1791Leu	missense	ABCA13	1	80134	1.24791E-5	40067	0	3.38501E-5
7-48314636-C-T	p.Phe1791Phe	synonymous	ABCA13	1	80134	1.24791E-5	40067	0	4.23126E-5
7-48314637-G-A	p.Ala1792Thr	missense	ABCA13	1	80106	1.24835E-5	40053	0	6.37064E-5
7-48314658-T-C	p.Leu1799Leu	synonymous	ABCA13	1	79986	1.25022E-5	39993	0	1.61803E-5
7-48314659-TG-T	p.Asp1800fs	frameshift	ABCA13	1	79984	1.25025E-5	39992	0	NA
7-48314667-A-G	p.Ile1802Val	missense	ABCA13	4	79952	5.003E-5	39976	0	8.54993E-6
7-48314670-G-A	p.Glu1803Lys	missense	ABCA13	3	79942	3.75272E-5	39971	0	8.55945E-6
7-48314676-G-A	p.Val1805Ile	missense	ABCA13	1	79942	1.25091E-5	39971	0	1.21635E-5
7-48314678-A-G	p.Val1805Val	synonymous	ABCA13	1	79942	1.25091E-5	39971	0	6.3674E-5
7-48314679-T-A	p.Ser1806Thr	missense	ABCA13	2	79928	2.50225E-5	39964	0	3.42747E-5
7-48314687-G-A	p.Lys1808Lys	synonymous	ABCA13	1	79882	1.25185E-5	39941	0	3.43247E-5
7-48314694-A-G	p.Ile1811Val	missense	ABCA13	1	79954	1.25072E-5	39977	0	8.10038E-6
7-48314702-A-T	p.Ser1813Ser	synonymous	ABCA13	10	79998	1.25003E-4	39999	0	7.71182E-5
7-48314707-C-T	p.Ala1815Val	missense	ABCA13	1	79990	1.25016E-5	39995	0	NA
7-48314708-T-A	p.Ala1815Ala	synonymous	ABCA13	1	80002	1.24997E-5	40001	0	8.55769E-6
7-48314718-TTTCCTGTG-T	p.Phe1819fs	frameshift	ABCA13	1	80066	1.24897E-5	40033	0	4.02937E-6
7-48314732-G-T	p.Trp1823Cys	missense	ABCA13	4	80112	4.99301E-5	40056	1	NA
7-48314733-T-C	p.Cys1824Arg	missense	ABCA13	1	80120	1.24813E-5	40060	0	8.44181E-6
7-48314736-T-C	p.Trp1825Arg	missense	ABCA13	1	80128	1.248E-5	40064	0	4.01936E-6
7-48314760-C-T	p.Arg1833Trp	missense	ABCA13	12	80186	1.49652E-4	40093	0	5.03525E-4
7-48314761-G-A	p.Arg1833Gln	missense	ABCA13	6	80180	7.48316E-5	40090	0	4.16889E-5
7-48314775-A-G	p.Ile1838Val	missense	ABCA13	7	80204	8.72774E-5	40102	0	1.49708E-4
7-48314798-G-T	p.Gly1845Gly	synonymous	ABCA13	26201	79854	0.328111	39927	4400	0.341875
7-48314809-C-A	p.Ser1849Tyr	missense	ABCA13	1	80074	1.24884E-5	40037	0	8.03284E-6
7-48314819-T-G	p.Tyr1852*	stop_gained	ABCA13	1	80028	1.24956E-5	40014	0	8.29655E-6
7-48314834-T-C	p.Ser1857Ser	synonymous	ABCA13	1	79940	1.25094E-5	39970	0	8.29449E-6
7-48314834-T-G	p.Ser1857Arg	missense	ABCA13	1	79940	1.25094E-5	39970	0	NA
7-48314844-C-T	p.His1861Tyr	missense	ABCA13	1	79894	1.25166E-5	39947	0	3.18532E-5
7-48314876-A-C	p.Ser1871Ser	synonymous	ABCA13	795	79802	0.00996216	39901	23	0.0212183
7-48314880-T-A	p.Cys1873Ser	missense	ABCA13	1	79810	1.25298E-5	39905	0	NA
7-48314896-C-T	p.Ser1878Phe	missense	ABCA13	101	79862	0.00126468	39931	0	0.00185883
7-48314898-C-T	p.Arg1879*	stop_gained	ABCA13	2	79878	2.50382E-5	39939	0	4.82377E-5
7-48314899-G-A	p.Arg1879Gln	missense	ABCA13	1	79878	1.25191E-5	39939	0	3.21626E-5
7-48314907-A-T	p.Ile1882Leu	missense	ABCA13	1	79956	1.25069E-5	39978	0	8.29807E-6
7-48314911-C-T	p.Thr1883Ile	missense	ABCA13	4	79956	5.00275E-5	39978	0	4.019E-6
7-48314924-C-T	p.Val1887Val	synonymous	ABCA13	1	80034	1.24947E-5	40017	0	5.03525E-4
7-48314926-G-T	p.Cys1888Phe	missense	ABCA13	1	80050	1.24922E-5	40025	0	NA
7-48314929-T-A	p.Ile1889Lys	missense	ABCA13	1042	80064	0.0130146	40032	10	0.0589124
7-48314934-C-A	p.His1891Asn	missense	ABCA13	1	80084	1.24869E-5	40042	0	1.20518E-5
7-48314949-T-G	p.Trp1896Gly	missense	ABCA13	1	80146	1.24772E-5	40073	0	NA
7-48314958-A-G	p.Ile1899Val	missense	ABCA13	1	80158	1.24754E-5	40079	0	3.1841E-5
7-48314967-G-C	p.Glu1902Gln	missense	ABCA13	3	80160	3.74252E-5	40080	0	2.00781E-5
7-48314972-C-T	p.Leu1903Leu	synonymous	ABCA13	15	80174	1.87093E-4	40087	0	2.2293E-4
7-48314999-T-A	p.Ser1912Ser	synonymous	ABCA13	3	80104	3.74513E-5	40052	0	9.64157E-5
7-48315003-G-A	p.Val1914Met	missense	ABCA13	3	80078	3.74635E-5	40039	0	1.60729E-4
7-48315007-A-G	p.Lys1915Arg	missense	ABCA13	1	80042	1.24934E-5	40021	0	NA
7-48315015-C-G	p.Gln1918Glu	missense	ABCA13	1	80018	1.24972E-5	40009	0	NA
7-48315028-A-G	p.His1922Arg	missense	ABCA13	2	80000	2.5E-5	40000	0	8.03878E-6
7-48315034-T-G	p.Ile1924Arg	missense	ABCA13	3	79974	3.75122E-5	39987	0	1.66439E-5
7-48315040-C-T	p.Pro1926Leu	missense	ABCA13	2	79964	2.50113E-5	39982	0	9.55414E-5
7-48315040-C-A	p.Pro1926Gln	missense	ABCA13	1	79964	1.25056E-5	39982	0	NA
7-48315041-G-A	p.Pro1926Pro	synonymous	ABCA13	219	79942	0.00273949	39971	0	0.00251762
7-48315047-C-T	p.Val1928Val	synonymous	ABCA13	1	79940	1.25094E-5	39970	0	NA
7-48315048-C-T	p.Pro1929Ser	missense	ABCA13	1	79946	1.25084E-5	39973	0	8.3221E-6
7-48315054-T-C	p.Ser1931Pro	missense	ABCA13	3	79968	3.7515E-5	39984	0	8.04253E-6
7-48315061-A-G	p.Asn1933Ser	missense	ABCA13	2	79934	2.50206E-5	39967	0	8.32348E-6
7-48315105-A-G	p.Ile1948Val	missense	ABCA13	3	79720	3.76317E-5	39860	0	2.49767E-5
7-48315110-G-A	p.Lys1949Lys	synonymous	ABCA13	1	79688	1.25489E-5	39844	0	NA
7-48315115-T-C	p.Val1951Ala	missense	ABCA13	1	79648	1.25552E-5	39824	0	NA
7-48315117-G-A	p.Ala1952Thr	missense	ABCA13	1	79616	1.25603E-5	39808	0	4.02421E-6
7-48315130-T-C	p.Ile1956Thr	missense	ABCA13	1	79606	1.25619E-5	39803	0	NA
7-48315131-A-G	p.Ile1956Met	missense	ABCA13	1	79594	1.25638E-5	39797	0	NA
7-48315142-A-G	p.Lys1960Arg	missense	ABCA13	3	79552	3.77112E-5	39776	0	5.04549E-5
7-48315167-A-G	p.Thr1968Thr	synonymous	ABCA13	2	79482	2.51629E-5	39741	0	NA
7-48315184-T-G	p.Leu1974Arg	missense	ABCA13	1	79448	1.25868E-5	39724	0	NA
7-48315197-T-C	p.Ser1978Ser	synonymous	ABCA13	1	79438	1.25884E-5	39719	0	1.01053E-5
7-48315202-T-C	p.Leu1980Ser	missense	ABCA13	18	79438	2.26592E-4	39719	0	4.77616E-4
7-48315205-A-G	p.Asn1981Ser	missense	ABCA13	1	79476	1.25824E-5	39738	0	NA
7-48315212-C-A	p.Ile1983Ile	synonymous	ABCA13	4	79438	5.03537E-5	39719	0	1.68077E-5
7-48315212-C-T	p.Ile1983Ile	synonymous	ABCA13	1	79438	1.25884E-5	39719	0	1.68077E-5
7-48315219-A-G	p.Ile1986Val	missense	ABCA13	1	79440	1.25881E-5	39720	0	0.00125
7-48315229-A-G	p.Asp1989Gly	missense	ABCA13	7	79420	8.8139E-5	39710	0	3.44053E-5
7-48315250-ATAT-A	p.Ile1998del	conservative_inframe_deletion	ABCA13	3	79418	3.77748E-5	39709	0	NA
7-48315253-T-C	p.Ile1997Thr	missense	ABCA13	1	79442	1.25878E-5	39721	0	4.43668E-6
7-48315264-A-C	p.Asn2001His	missense	ABCA13	1	79446	1.25872E-5	39723	0	1.25335E-5
7-48315274-G-A	p.Arg2004Lys	missense	ABCA13	2	79504	2.5156E-5	39752	0	8.93519E-6
7-48315277-C-T	p.Thr2005Ile	missense	ABCA13	2	79532	2.51471E-5	39766	0	NA
7-48315286-T-C	p.Leu2008Ser	missense	ABCA13	2	79598	2.51263E-5	39799	0	NA
7-48315291-T-C	p.Ser2010Pro	missense	ABCA13	1	79630	1.25581E-5	39815	0	4.49301E-6
7-48315295-AAGAC-A	p.Glu2011fs	frameshift	ABCA13	1	79630	1.25581E-5	39815	0	NA
7-48315309-G-A	p.Glu2016Lys	missense	ABCA13	3	79716	3.76336E-5	39858	0	9.57304E-5
7-48315319-C-T	p.Thr2019Met	missense	ABCA13	4	79758	5.01517E-5	39879	0	1.13105E-4
7-48315320-G-A	p.Thr2019Thr	synonymous	ABCA13	4	79740	5.0163E-5	39870	0	7.5077E-5
7-48315323-T-C	p.His2020His	synonymous	ABCA13	2	79780	2.50689E-5	39890	0	4.29934E-6
7-48315332-CT-C	p.Ser2024fs	frameshift	ABCA13	10	79868	1.25207E-4	39934	0	8.9172E-4
7-48315334-C-G	p.Ser2024Cys	missense	ABCA13	1	79898	1.2516E-5	39949	0	2.39843E-5
7-48315334-CT-C	p.Leu2025fs	frameshift	ABCA13	1	79898	1.2516E-5	39949	0	NA
7-48315341-C-T	p.Phe2026Phe	synonymous	ABCA13	2	79950	2.50156E-5	39975	0	1.17528E-5
7-48315348-C-G	p.Leu2029Val	missense	ABCA13	1	79950	1.25078E-5	39975	0	1.14695E-5
7-48315360-A-G	p.Asn2033Asp	missense	ABCA13	2736	79976	0.0342103	39988	72	0.0441117
7-48315363-G-A	p.Val2034Ile	missense	ABCA13	1	80020	1.24969E-5	40010	0	NA
7-48315400-T-C	p.Ile2046Thr	missense	ABCA13	1	80016	1.24975E-5	40008	0	5.84044E-5
7-48315425-C-T	p.Asn2054Asn	synonymous	ABCA13

Data Browser hg19

41,066

Gene: ABCA13

Variant