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 |