7-73150866-G-A
|
c.*298C>T |
splice_region |
ABHD11 |
4 |
78008 |
5.12768E-5 |
39004 |
0 |
1.12939E-4 |
7-73150888-CTT-C
|
p.Ter316fs |
frameshift |
ABHD11 |
4 |
78074 |
5.12334E-5 |
39037 |
0 |
8.04156E-6 |
7-73150895-C-T
|
c.*389G>A |
splice_region |
ABHD11 |
4 |
78062 |
5.12413E-5 |
39031 |
0 |
9.55718E-5 |
7-73150905-C-T
|
p.Arg311Gln |
missense |
ABHD11 |
1 |
78068 |
1.28093E-5 |
39034 |
0 |
3.18634E-5 |
7-73150906-G-A
|
p.Arg311* |
stop_gained |
ABHD11 |
1 |
78066 |
1.28097E-5 |
39033 |
0 |
0.00103199 |
7-73150908-A-G
|
p.Ile310Thr |
missense |
ABHD11 |
6 |
78068 |
7.68561E-5 |
39034 |
0 |
3.18634E-5 |
7-73150914-G-T
|
p.Ala308Asp |
missense |
ABHD11 |
1 |
78074 |
1.28084E-5 |
39037 |
0 |
NA |
7-73150917-A-T
|
p.Ile307Lys |
missense |
ABHD11 |
2 |
78070 |
2.5618E-5 |
39035 |
0 |
NA |
7-73150928-T-C
|
p.Pro303Pro |
synonymous |
ABHD11 |
1 |
78062 |
1.28103E-5 |
39031 |
0 |
4.0169E-6 |
7-73150932-C-T
|
p.Arg302His |
missense |
ABHD11 |
1 |
78048 |
1.28126E-5 |
39024 |
0 |
6.3743E-5 |
7-73150932-C-G
|
p.Arg302Pro |
missense |
ABHD11 |
1 |
78048 |
1.28126E-5 |
39024 |
0 |
8.23737E-6 |
7-73150933-G-A
|
p.Arg302Cys |
missense |
ABHD11 |
2 |
78050 |
2.56246E-5 |
39025 |
0 |
3.18471E-5 |
7-73150934-G-A
|
p.Asp301Asp |
synonymous |
ABHD11 |
168 |
78054 |
0.00215236 |
39027 |
0 |
0.00165574 |
7-73150958-G-A
|
p.Asn293Asn |
synonymous |
ABHD11 |
1 |
78030 |
1.28156E-5 |
39015 |
0 |
4.01613E-6 |
7-73150962-G-A
|
p.Pro292Leu |
missense |
ABHD11 |
2 |
78018 |
2.56351E-5 |
39009 |
0 |
3.61466E-5 |
7-73150963-G-A
|
p.Pro292Ser |
missense |
ABHD11 |
1 |
78010 |
1.28189E-5 |
39005 |
0 |
1.64775E-5 |
7-73150981-C-A
|
p.Ala286Ser |
missense |
ABHD11 |
1 |
78008 |
1.28192E-5 |
39004 |
0 |
8.03477E-6 |
7-73150983-C-G
|
p.Arg285Pro |
missense |
ABHD11 |
2 |
77984 |
2.56463E-5 |
38992 |
0 |
3.18654E-5 |
7-73150984-G-A
|
p.Arg285Trp |
missense |
ABHD11 |
6 |
78010 |
7.69132E-5 |
39005 |
0 |
4.12126E-5 |
7-73150988-G-A
|
p.Phe283Phe |
synonymous |
ABHD11 |
1 |
78016 |
1.28179E-5 |
39008 |
0 |
4.01723E-6 |
7-73150995-C-T
|
p.Arg281Gln |
missense |
ABHD11 |
2 |
77986 |
2.56456E-5 |
38993 |
0 |
2.41101E-5 |
7-73150996-G-A
|
p.Arg281Trp |
missense |
ABHD11 |
4 |
77982 |
5.12939E-5 |
38991 |
0 |
3.18492E-5 |
7-73150999-T-G
|
p.Met280Leu |
missense |
ABHD11 |
1 |
78000 |
1.28205E-5 |
39000 |
0 |
NA |
7-73150999-T-A
|
p.Met280Leu |
missense |
ABHD11 |
1 |
78000 |
1.28205E-5 |
39000 |
0 |
NA |
7-73151012-G-A
|
p.Pro158Ser |
missense |
ABHD11 |
1 |
78000 |
1.28205E-5 |
39000 |
0 |
NA |
7-73151263-C-T
|
p.Val271Met |
missense |
ABHD11 |
1 |
80710 |
1.239E-5 |
40355 |
0 |
8.30965E-6 |
7-73151264-G-A
|
p.Phe270Phe |
synonymous |
ABHD11 |
5 |
80740 |
6.19272E-5 |
40370 |
0 |
6.64E-5 |
7-73151276-TCCA-T
|
p.Gly266del |
disruptive_inframe_deletion |
ABHD11 |
2 |
80916 |
2.4717E-5 |
40458 |
0 |
9.56511E-5 |
7-73151285-G-A
|
p.Leu263Leu |
synonymous |
ABHD11 |
6 |
80990 |
7.40832E-5 |
40495 |
0 |
2.47836E-5 |
7-73151289-AAG-A
|
p.Phe262fs |
frameshift |
ABHD11 |
2 |
81014 |
2.46871E-5 |
40507 |
0 |
8.2575E-6 |
7-73151297-T-C
|
p.Pro259Pro |
synonymous |
ABHD11 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
NA |
7-73151300-C-A
|
p.Gly258Gly |
synonymous |
ABHD11 |
205 |
81016 |
0.00253036 |
40508 |
0 |
0.00273891 |
7-73151303-G-A
|
p.Leu257Leu |
synonymous |
ABHD11 |
1 |
81028 |
1.23414E-5 |
40514 |
0 |
1.99073E-5 |
7-73151322-T-C
|
p.Gln251Arg |
missense |
ABHD11 |
4 |
81052 |
4.9351E-5 |
40526 |
0 |
6.37836E-5 |
7-73151335-A-T
|
p.Leu247Met |
missense |
ABHD11 |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
NA |
7-73151370-T-C
|
p.Asn235Ser |
missense |
ABHD11 |
1 |
81032 |
1.23408E-5 |
40516 |
0 |
3.18878E-5 |
7-73151383-C-T
|
p.Val231Met |
missense |
ABHD11 |
3 |
81020 |
3.70279E-5 |
40510 |
0 |
3.18593E-5 |
7-73151384-G-A
|
p.Phe230Phe |
synonymous |
ABHD11 |
6 |
81020 |
7.40558E-5 |
40510 |
0 |
5.03525E-4 |
7-73151385-A-G
|
p.Phe230Ser |
missense |
ABHD11 |
6 |
81020 |
7.40558E-5 |
40510 |
0 |
6.36522E-5 |
7-73151388-C-T
|
p.Arg229His |
missense |
ABHD11 |
1 |
81004 |
1.23451E-5 |
40502 |
0 |
2.4728E-5 |
7-73151392-C-T
|
p.Gly228Arg |
missense |
ABHD11 |
3 |
81006 |
3.70343E-5 |
40503 |
0 |
7.5605E-5 |
7-73151399-C-G
|
p.Glu225Asp |
missense |
ABHD11 |
1 |
81004 |
1.23451E-5 |
40502 |
0 |
8.24321E-6 |
7-73151400-T-C
|
p.Glu225Gly |
missense |
ABHD11 |
11 |
81004 |
1.35796E-4 |
40502 |
0 |
0.00125 |
7-73151404-C-T
|
p.Trp183* |
stop_gained |
ABHD11 |
1 |
80990 |
1.23472E-5 |
40495 |
0 |
8.24362E-6 |
7-73151408-G-A
|
p.Thr182Ile |
missense |
ABHD11 |
1 |
80994 |
1.23466E-5 |
40497 |
0 |
3.18471E-5 |
7-73151414-G-A
|
p.Ser180Leu |
missense |
ABHD11 |
1 |
80964 |
1.23512E-5 |
40482 |
0 |
NA |
7-73151420-G-A
|
p.Thr178Ile |
missense |
ABHD11 |
40 |
80960 |
4.94071E-4 |
40480 |
0 |
0.00100705 |
7-73151431-C-T
|
p.Val215Met |
missense |
ABHD11 |
3 |
80910 |
3.70782E-5 |
40455 |
0 |
1.19559E-5 |
7-73151432-G-A
|
p.Pro174Leu |
missense |
ABHD11 |
1 |
80906 |
1.236E-5 |
40453 |
0 |
NA |
7-73151433-G-A
|
p.Ala214Val |
missense |
ABHD11 |
5 |
80902 |
6.18032E-5 |
40451 |
0 |
5.18308E-5 |
7-73151439-TCCTGTGGGGGTGCAGCAGTTGGGGGAGGTTCCTTGTGCGGTCTGGGGGTGCCACTCTTCCCTTGACAGGTCCTGGTCTACAATACCATCCGGGGCACCTTGGGTGTATCA-T
|
p.Asp212fs |
frameshift |
ABHD11 |
1 |
80860 |
1.23671E-5 |
40430 |
0 |
NA |
7-73151444-TG-T
|
p.His170fs |
frameshift |
ABHD11 |
1 |
80848 |
1.23689E-5 |
40424 |
0 |
3.18857E-5 |
7-73151446-G-A
|
c.634-6C>T |
splice_region |
ABHD11 |
1 |
80844 |
1.23695E-5 |
40422 |
0 |
3.98998E-6 |
7-73151449-G-A
|
p.His168His |
synonymous |
ABHD11 |
6 |
80808 |
7.42501E-5 |
40404 |
0 |
3.30306E-5 |
7-73151458-T-C
|
p.Gln165Gln |
synonymous |
ABHD11 |
1 |
80762 |
1.23821E-5 |
40381 |
0 |
3.19081E-5 |
7-73151462-G-T
|
p.Pro164His |
missense |
ABHD11 |
3 |
80716 |
3.71674E-5 |
40358 |
0 |
5.19186E-5 |
7-73151463-G-A
|
p.Pro164Ser |
missense |
ABHD11 |
2 |
80734 |
2.47727E-5 |
40367 |
0 |
9.58474E-5 |
7-73151466-G-A
|
p.Leu163Phe |
missense |
ABHD11 |
1 |
80706 |
1.23907E-5 |
40353 |
0 |
3.30426E-5 |
7-73151468-T-C
|
p.Asn162Ser |
missense |
ABHD11 |
3 |
80670 |
3.71885E-5 |
40335 |
0 |
6.37349E-5 |
7-73151477-C-T
|
p.Arg159His |
missense |
ABHD11 |
15 |
80526 |
1.86275E-4 |
40263 |
0 |
1.1202E-4 |
7-73151478-G-A
|
p.Arg159Cys |
missense |
ABHD11 |
3 |
80522 |
3.72569E-5 |
40261 |
0 |
6.37227E-5 |
7-73151480-T-A
|
p.Asp158Val |
missense |
ABHD11 |
1 |
80490 |
1.24239E-5 |
40245 |
0 |
NA |
7-73151484-G-C
|
p.Pro157Ala |
missense |
ABHD11 |
1 |
80422 |
1.24344E-5 |
40211 |
0 |
3.9991E-6 |
7-73151489-G-T
|
p.Ala155Glu |
missense |
ABHD11 |
1 |
80338 |
1.24474E-5 |
40169 |
0 |
NA |
7-73151491-C-T
|
p.Val154Val |
synonymous |
ABHD11 |
1 |
80366 |
1.24431E-5 |
40183 |
0 |
NA |
7-73151520-A-G
|
p.Cys145Arg |
missense |
ABHD11 |
3 |
80250 |
3.73832E-5 |
40125 |
0 |
NA |
7-73151522-TACCATCCGGGGC-T
|
p.Cys140_Trp143del |
disruptive_inframe_deletion |
ABHD11 |
1 |
80230 |
1.24642E-5 |
40115 |
0 |
NA |
7-73151528-C-A
|
p.Gly142Val |
missense |
ABHD11 |
2 |
80212 |
2.49339E-5 |
40106 |
0 |
1.65074E-5 |
7-73151529-C-T
|
p.Gly142Arg |
missense |
ABHD11 |
16 |
80180 |
1.99551E-4 |
40090 |
0 |
1.07686E-4 |
7-73151543-T-C
|
p.His137Arg |
missense |
ABHD11 |
1 |
80226 |
1.24648E-5 |
40113 |
0 |
3.98371E-6 |
7-73151568-G-GCTGTTCAT
|
p.Leu206fs |
frameshift |
ABHD11 |
1 |
80460 |
1.24285E-5 |
40230 |
0 |
8.24429E-6 |
7-73151578-C-T
|
p.Ala202Ala |
synonymous |
ABHD11 |
7 |
80520 |
8.69349E-5 |
40260 |
0 |
5.03525E-4 |
7-73151580-C-A
|
p.Ala202Ser |
missense |
ABHD11 |
4 |
80520 |
4.96771E-5 |
40260 |
0 |
1.64859E-5 |
7-73151583-G-C
|
p.Leu201Val |
missense |
ABHD11 |
1 |
80568 |
1.24119E-5 |
40284 |
0 |
NA |
7-73151585-T-TG
|
p.Lys200fs |
frameshift |
ABHD11 |
1 |
80572 |
1.24113E-5 |
40286 |
0 |
8.24212E-6 |
7-73151586-T-TTCA
|
p.Arg199_Lys200insTer |
stop_gained |
ABHD11 |
1 |
80582 |
1.24097E-5 |
40291 |
0 |
8.24198E-6 |
7-73151588-C-T
|
p.Arg199Gln |
missense |
ABHD11 |
3 |
80560 |
3.72393E-5 |
40280 |
0 |
6.37064E-5 |
7-73151589-G-A
|
p.Arg199* |
stop_gained |
ABHD11 |
2 |
80570 |
2.48231E-5 |
40285 |
0 |
8.24266E-6 |
7-73151594-C-T
|
p.Arg197His |
missense |
ABHD11 |
1 |
80536 |
1.24168E-5 |
40268 |
0 |
3.29669E-5 |
7-73151600-C-T
|
p.Arg195His |
missense |
ABHD11 |
8 |
80536 |
9.93345E-5 |
40268 |
0 |
1.87081E-4 |
7-73151601-G-A
|
p.Arg195Cys |
missense |
ABHD11 |
1 |
80558 |
1.24134E-5 |
40279 |
0 |
8.24144E-6 |
7-73151614-T-G
|
p.Ala190Ala |
synonymous |
ABHD11 |
1 |
80554 |
1.2414E-5 |
40277 |
0 |
3.18492E-5 |
7-73151616-C-T
|
p.Ala190Thr |
missense |
ABHD11 |
3 |
80502 |
3.72662E-5 |
40251 |
0 |
0.0025 |
7-73151617-G-A
|
p.Ile189Ile |
synonymous |
ABHD11 |
2 |
80526 |
2.48367E-5 |
40263 |
0 |
3.18492E-5 |
7-73151617-G-C
|
p.Ile189Met |
missense |
ABHD11 |
1 |
80526 |
1.24183E-5 |
40263 |
0 |
NA |
7-73151621-T-C
|
p.Asn188Ser |
missense |
ABHD11 |
3 |
80508 |
3.72634E-5 |
40254 |
0 |
1.59172E-5 |
7-73151643-C-T
|
p.Val181Met |
missense |
ABHD11 |
926 |
80188 |
0.0115479 |
40094 |
22 |
0.0346399 |
7-73151643-CA-TG
|
p.TyrVal180TyrMet |
missense |
ABHD11 |
435 |
80218 |
0.00542272 |
40109 |
30 |
NA |
7-73151644-A-G
|
p.Met119Thr |
missense |
ABHD11 |
43541 |
79224 |
0.549594 |
39612 |
12576 |
0.635 |
7-73151652-C-T
|
p.Ala178Thr |
missense |
ABHD11 |
1 |
80142 |
1.24779E-5 |
40071 |
0 |
NA |
7-73151664-C-T
|
p.Val174Ile |
missense |
ABHD11 |
2 |
79862 |
2.50432E-5 |
39931 |
0 |
0.00151057 |
7-73151676-C-T
|
p.Trp108* |
stop_gained |
ABHD11 |
1 |
79542 |
1.2572E-5 |
39771 |
0 |
NA |
7-73151682-G-T
|
p.Pro168Thr |
missense |
ABHD11 |
1 |
79376 |
1.25983E-5 |
39688 |
0 |
NA |
7-73151694-CA-C
|
p.Val164fs |
frameshift |
ABHD11 |
1 |
79144 |
1.26352E-5 |
39572 |
0 |
8.29215E-6 |
7-73151699-A-G
|
p.Ile162Thr |
missense |
ABHD11 |
1 |
79030 |
1.26534E-5 |
39515 |
0 |
NA |
7-73151727-G-A
|
c.463-6C>T |
splice_region |
ABHD11 |
2 |
78758 |
2.53942E-5 |
39379 |
0 |
NA |
7-73151884-C-T
|
c.462+8G>A |
splice_region |
ABHD11 |
1 |
79286 |
1.26126E-5 |
39643 |
0 |
3.06724E-5 |
7-73151884-CG-C
|
c.462+7delC |
splice_region |
ABHD11 |
1 |
79286 |
1.26126E-5 |
39643 |
0 |
NA |
7-73151886-G-A
|
c.462+6C>T |
splice_region |
ABHD11 |
1 |
79302 |
1.261E-5 |
39651 |
0 |
NA |
7-73151888-T-TACA
|
c.462+3_462+4insTGT |
splice_region |
ABHD11 |
1 |
79400 |
1.25945E-5 |
39700 |
0 |
NA |
7-73151889-C-T
|
c.462+3G>A |
splice_region |
ABHD11 |
439 |
79440 |
0.00552618 |
39720 |
1 |
0.00857179 |
7-73151898-T-C
|
c.*359A>G |
splice_region |
ABHD11 |
1 |
79674 |
1.25511E-5 |
39837 |
0 |
2.73324E-5 |
7-73151901-T-C
|
p.Ala151Ala |
synonymous |
ABHD11 |
1 |
79684 |
1.25496E-5 |
39842 |
0 |
3.63042E-5 |
7-73151907-C-T
|
p.Leu149Leu |
synonymous |
ABHD11 |
5 |
79748 |
6.26975E-5 |
39874 |
0 |
8.99766E-6 |
7-73151908-AG-CC
|
p.Leu149Gly |
missense |
ABHD11 |
1 |
79788 |
1.25332E-5 |
39894 |
0 |
NA |
7-73151915-C-A
|
p.Ala147Ser |
missense |
ABHD11 |
1 |
79894 |
1.25166E-5 |
39947 |
0 |
NA |
7-73151919-C-T
|
p.Lys145Lys |
synonymous |
ABHD11 |
2 |
79954 |
2.50144E-5 |
39977 |
0 |
3.23549E-5 |
7-73151926-C-T
|
p.Gly143Glu |
missense |
ABHD11 |
5 |
80026 |
6.24797E-5 |
40013 |
0 |
6.37186E-5 |
7-73151946-G-A
|
p.Val136Val |
synonymous |
ABHD11 |
4 |
80158 |
4.99014E-5 |
40079 |
0 |
8.39342E-5 |
7-73151948-C-T
|
p.Val136Ile |
missense |
ABHD11 |
3 |
80176 |
3.74177E-5 |
40088 |
0 |
1.59884E-5 |
7-73151955-C-T
|
p.Val133Val |
synonymous |
ABHD11 |
9 |
80238 |
1.12166E-4 |
40119 |
0 |
6.39131E-5 |
7-73151957-C-T
|
p.Val133Met |
missense |
ABHD11 |
1 |
80264 |
1.24589E-5 |
40132 |
0 |
NA |
7-73151958-C-T
|
p.Leu132Leu |
synonymous |
ABHD11 |
1 |
80272 |
1.24576E-5 |
40136 |
0 |
NA |
7-73151959-A-C
|
p.Leu132Arg |
missense |
ABHD11 |
2 |
80264 |
2.49178E-5 |
40132 |
0 |
NA |
7-73151971-G-T
|
p.Pro128His |
missense |
ABHD11 |
1 |
80318 |
1.24505E-5 |
40159 |
0 |
NA |
7-73152000-G-A
|
n.746C>T |
splice_region |
ABHD11 |
2 |
80484 |
2.48497E-5 |
40242 |
0 |
1.99216E-5 |
7-73152001-A-G
|
p.Ile118Thr |
missense |
ABHD11 |
1 |
80484 |
1.24248E-5 |
40242 |
0 |
3.9846E-6 |
7-73152002-T-G
|
p.Ile118Leu |
missense |
ABHD11 |
1 |
80474 |
1.24264E-5 |
40237 |
0 |
NA |
7-73152003-C-A
|
p.Glu117Asp |
missense |
ABHD11 |
2 |
80484 |
2.48497E-5 |
40242 |
0 |
8.32945E-6 |
7-73152024-G-A
|
p.His110His |
synonymous |
ABHD11 |
2 |
80460 |
2.48571E-5 |
40230 |
0 |
NA |
7-73152026-G-A
|
p.His110Tyr |
missense |
ABHD11 |
1 |
80478 |
1.24258E-5 |
40239 |
0 |
7.9848E-6 |
7-73152030-G-A
|
p.Ser108Ser |
synonymous |
ABHD11 |
9 |
80424 |
1.11907E-4 |
40212 |
0 |
0.00100705 |
7-73152033-G-C
|
p.Asp107Glu |
missense |
ABHD11 |
7 |
80428 |
8.70344E-5 |
40214 |
0 |
5.03525E-4 |
7-73152041-G-C
|
p.His105Asp |
missense |
ABHD11 |
3 |
80356 |
3.73339E-5 |
40178 |
0 |
6.02013E-5 |
7-73152046-C-T
|
p.Arg103His |
missense |
ABHD11 |
1 |
80258 |
1.24598E-5 |
40129 |
0 |
6.25E-4 |
7-73152047-G-A
|
p.Arg103Cys |
missense |
ABHD11 |
3 |
80220 |
3.73972E-5 |
40110 |
0 |
3.18532E-5 |
7-73152058-G-C
|
p.Thr99Arg |
missense |
ABHD11 |
1 |
80062 |
1.24903E-5 |
40031 |
0 |
2.44487E-5 |
7-73152065-C-CCCTACGGCCTGTCTG
|
c.289-1_289insCAGACAGGCCGTAGG |
splice_acceptor |
ABHD11 |
1 |
79898 |
1.2516E-5 |
39949 |
0 |
NA |
7-73152072-A-T
|
c.289-7T>A |
splice_region |
ABHD11 |
1 |
79626 |
1.25587E-5 |
39813 |
0 |
NA |
7-73152073-G-A
|
c.289-8C>T |
splice_region |
ABHD11 |
2 |
79628 |
2.51168E-5 |
39814 |
0 |
6.95894E-5 |
7-73152200-C-T
|
n.323+6G>A |
splice_region |
ABHD11 |
4 |
77796 |
5.14165E-5 |
38898 |
0 |
6.37389E-5 |
7-73152205-CCTAGGAGG-C
|
n.316_323delCCTCCTAG |
splice_region |
ABHD11 |
1 |
77650 |
1.28783E-5 |
38825 |
0 |
NA |
7-73152208-A-G
|
n.321T>C |
splice_region |
ABHD11 |
2 |
77550 |
2.57898E-5 |
38775 |
0 |
NA |
7-73152406-G-A
|
c.259-4C>T |
splice_region |
ABHD11 |
1 |
70432 |
1.41981E-5 |
35216 |
0 |
1.95559E-5 |
7-73152653-C-T
|
c.288+5G>A |
splice_region |
ABHD11 |
1 |
78376 |
1.2759E-5 |
39188 |
0 |
1.95783E-5 |
7-73152664-G-C
|
p.Gly94Gly |
splice_region+synonymous |
ABHD11 |
3 |
78790 |
3.80759E-5 |
39395 |
0 |
6.02352E-5 |
7-73152665-C-T
|
p.Gly94Asp |
missense+splice_region |
ABHD11 |
1 |
78822 |
1.26868E-5 |
39411 |
0 |
3.19591E-5 |
7-73152666-C-A
|
p.Gly94Cys |
missense |
ABHD11 |
2 |
78908 |
2.5346E-5 |
39454 |
0 |
1.88462E-5 |
7-73152666-C-G
|
p.Gly94Arg |
missense |
ABHD11 |
1 |
78908 |
1.2673E-5 |
39454 |
0 |
1.60499E-5 |
7-73152671-T-A
|
p.Gln92Leu |
missense |
ABHD11 |
1 |
79016 |
1.26557E-5 |
39508 |
0 |
NA |
7-73152675-G-C
|
p.Gln91Glu |
missense |
ABHD11 |
1 |
79092 |
1.26435E-5 |
39546 |
0 |
NA |
7-73152689-G-A
|
p.Ala86Val |
missense |
ABHD11 |
1 |
79320 |
1.26072E-5 |
39660 |
0 |
9.29005E-6 |
7-73152694-G-A
|
p.Ser84Ser |
synonymous |
ABHD11 |
1 |
79420 |
1.25913E-5 |
39710 |
0 |
4.47161E-4 |
7-73152698-T-C
|
p.Asn83Ser |
missense |
ABHD11 |
1 |
79426 |
1.25903E-5 |
39713 |
0 |
9.36224E-6 |
7-73152705-T-C
|
p.Asn81Asp |
missense |
ABHD11 |
3 |
79498 |
3.77368E-5 |
39749 |
0 |
0.00100908 |
7-73152706-A-C
|
p.Thr80Thr |
synonymous |
ABHD11 |
1 |
79502 |
1.25783E-5 |
39751 |
0 |
NA |
7-73152712-G-C
|
p.Ser78Arg |
missense |
ABHD11 |
1 |
79500 |
1.25786E-5 |
39750 |
0 |
NA |
7-73152715-G-A
|
p.Gly77Gly |
synonymous |
ABHD11 |
1 |
79466 |
1.2584E-5 |
39733 |
0 |
4.02781E-6 |
7-73152727-G-A
|
p.His73His |
synonymous |
ABHD11 |
7 |
79476 |
8.80769E-5 |
39738 |
0 |
1.21474E-5 |
7-73152739-G-A
|
p.Val69Val |
synonymous |
ABHD11 |
9 |
79358 |
1.1341E-4 |
39679 |
0 |
4.11184E-6 |
7-73152745-C-T
|
p.Pro67Pro |
synonymous |
ABHD11 |
1 |
79232 |
1.26212E-5 |
39616 |
0 |
1.06598E-5 |
7-73152751-G-A
|
p.Ala65Ala |
synonymous |
ABHD11 |
14 |
79266 |
1.7662E-4 |
39633 |
0 |
2.5481E-4 |
7-73152763-G-A
|
p.Asp61Asp |
synonymous |
ABHD11 |
82 |
79120 |
0.0010364 |
39560 |
3 |
0.00406676 |
7-73152767-A-G
|
p.Leu60Pro |
missense |
ABHD11 |
10 |
79146 |
1.26349E-4 |
39573 |
0 |
0.00151515 |
7-73152773-C-T
|
c.153-1G>A |
splice_acceptor |
ABHD11 |
2 |
79208 |
2.525E-5 |
39604 |
0 |
4.13777E-6 |
7-73152790-C-G
|
p.Pro52Pro |
synonymous |
ABHD11 |
1 |
79014 |
1.2656E-5 |
39507 |
0 |
NA |
7-73152795-T-TC
|
c.153-3_153-2insG |
splice_region |
ABHD11 |
2 |
78974 |
2.53248E-5 |
39487 |
0 |
NA |
7-73152796-G-A
|
c.153-3C>T |
splice_region |
ABHD11 |
928 |
78904 |
0.0117611 |
39452 |
7 |
0.0130163 |
7-73152995-G-T
|
p.Arg45Arg |
synonymous |
ABHD11 |
1 |
74958 |
1.33408E-5 |
37479 |
0 |
NA |
7-73153001-C-T
|
p.Gly43Ser |
missense |
ABHD11 |
6 |
75564 |
7.94029E-5 |
37782 |
0 |
9.5761E-5 |
7-73153001-CGCT-C
|
p.Ser42del |
conservative_inframe_deletion |
ABHD11 |
1 |
75558 |
1.32349E-5 |
37779 |
0 |
1.16996E-4 |
7-73153009-C-A
|
p.Ser40Ile |
missense |
ABHD11 |
1 |
76028 |
1.3153E-5 |
38014 |
0 |
3.18837E-5 |
7-73153020-G-A
|
p.Val36Val |
synonymous |
ABHD11 |
1 |
76352 |
1.30972E-5 |
38176 |
0 |
3.18939E-5 |
7-73153028-C-A
|
p.Val34Leu |
missense |
ABHD11 |
1 |
76586 |
1.30572E-5 |
38293 |
0 |
4.45659E-5 |
7-73153032-C-A
|
p.Ala32Ala |
synonymous |
ABHD11 |
2 |
76644 |
2.60947E-5 |
38322 |
0 |
3.18979E-5 |
7-73153042-G-A
|
p.Pro29Leu |
missense |
ABHD11 |
2 |
77142 |
2.59262E-5 |
38571 |
0 |
NA |
7-73153055-C-T
|
p.Gly25Ser |
missense |
ABHD11 |
6 |
77454 |
7.74653E-5 |
38727 |
0 |
8.12536E-5 |
7-73153056-G-T
|
p.Leu24Leu |
synonymous |
ABHD11 |
1 |
77574 |
1.28909E-5 |
38787 |
0 |
6.38203E-5 |
7-73153069-G-C
|
p.Pro20Arg |
missense |
ABHD11 |
1 |
77990 |
1.28222E-5 |
38995 |
0 |
NA |
7-73153073-G-C
|
p.Leu19Val |
missense |
ABHD11 |
1 |
78118 |
1.28011E-5 |
39059 |
0 |
6.25E-4 |
7-73153084-C-T
|
p.Arg15Gln |
missense |
ABHD11 |
1 |
78258 |
1.27782E-5 |
39129 |
0 |
2.03455E-5 |
7-73153084-C-G
|
p.Arg15Pro |
missense |
ABHD11 |
1 |
78258 |
1.27782E-5 |
39129 |
0 |
NA |
7-73153085-G-T
|
p.Arg15Arg |
synonymous |
ABHD11 |
2 |
78290 |
2.5546E-5 |
39145 |
0 |
0.00100908 |
7-73153086-G-T
|
p.Thr14Thr |
synonymous |
ABHD11 |
90 |
78294 |
0.00114951 |
39147 |
0 |
7.84048E-4 |
7-73153089-C-G
|
p.Trp13Cys |
missense |
ABHD11 |
1 |
78270 |
1.27763E-5 |
39135 |
0 |
4.12735E-5 |
7-73153098-C-A
|
p.Met10Ile |
missense |
ABHD11 |
1 |
78424 |
1.27512E-5 |
39212 |
0 |
2.00373E-5 |
7-73153100-T-C
|
p.Met10Val |
missense |
ABHD11 |
2 |
78478 |
2.54848E-5 |
39239 |
0 |
6.38774E-5 |
7-73153102-C-T
|
p.Ser9Asn |
missense |
ABHD11 |
1 |
78430 |
1.27502E-5 |
39215 |
0 |
5.03941E-5 |
7-73153114-T-C
|
p.Gln5Arg |
missense |
ABHD11 |
1 |
78304 |
1.27707E-5 |
39152 |
0 |
1.04919E-5 |
7-73153116-G-A
|
p.Gly4Gly |
synonymous |
ABHD11 |
3 |
78242 |
3.83426E-5 |
39121 |
0 |
2.11385E-5 |
7-73153123-C-T
|
p.Arg2Gln |
missense |
ABHD11 |
1 |
77912 |
1.2835E-5 |
38956 |
0 |
1.08861E-5 |
7-73153124-G-A
|
p.Arg2* |
stop_gained |
ABHD11 |
2 |
77826 |
2.56984E-5 |
38913 |
0 |
NA |
7-73153167-T-A
|
c.-40A>T |
5_prime_UTR_premature_start_codon_gain |
ABHD11 |
2 |
75566 |
2.64669E-5 |
37783 |
0 |
3.20862E-5 |
7-73153191-G-A
|
c.-64C>T |
5_prime_UTR_premature_start_codon_gain |
ABHD11 |
4 |
74012 |
5.40453E-5 |
37006 |
0 |
NA |