14-96858492-A-G
|
p.Met1? |
start_lost |
AK7 |
1 |
79594 |
1.25638E-5 |
39797 |
0 |
8.32293E-6 |
14-96858493-T-A
|
p.Met1? |
start_lost |
AK7 |
2 |
79680 |
2.51004E-5 |
39840 |
0 |
3.18674E-5 |
14-96858493-T-C
|
p.Met1? |
start_lost |
AK7 |
1 |
79680 |
1.25502E-5 |
39840 |
0 |
NA |
14-96858503-AGAG-A
|
p.Glu6del |
disruptive_inframe_deletion |
AK7 |
1 |
80048 |
1.24925E-5 |
40024 |
0 |
NA |
14-96858521-C-T
|
p.Leu10Leu |
synonymous |
AK7 |
2 |
80278 |
2.49134E-5 |
40139 |
0 |
6.37105E-5 |
14-96858524-G-C
|
p.Thr11Thr |
synonymous |
AK7 |
3 |
80290 |
3.73646E-5 |
40145 |
0 |
NA |
14-96858527-G-A
|
p.Glu12Glu |
synonymous |
AK7 |
1 |
80338 |
1.24474E-5 |
40169 |
0 |
NA |
14-96858542-C-A
|
p.Thr17Thr |
synonymous |
AK7 |
302 |
80348 |
0.00375865 |
40174 |
4 |
0.00888988 |
14-96858545-G-A
|
p.Gln18Gln |
synonymous |
AK7 |
1 |
80370 |
1.24425E-5 |
40185 |
0 |
1.65459E-5 |
14-96858557-A-C
|
p.Ile22Ile |
synonymous |
AK7 |
1 |
80294 |
1.24542E-5 |
40147 |
0 |
NA |
14-96858579-A-G
|
p.Ser30Gly |
missense |
AK7 |
1 |
79948 |
1.25081E-5 |
39974 |
0 |
4.99143E-5 |
14-96858590-C-A
|
p.Ile33Ile |
synonymous |
AK7 |
1 |
79778 |
1.25348E-5 |
39889 |
0 |
9.55901E-5 |
14-96858591-G-C
|
p.Gly34Arg |
missense |
AK7 |
1 |
79718 |
1.25442E-5 |
39859 |
0 |
8.40407E-6 |
14-96858599-G-GAGCGGC
|
c.105+3_105+4insAGCGGC |
splice_region |
AK7 |
1 |
79508 |
1.25774E-5 |
39754 |
0 |
1.99947E-4 |
14-96858600-A-AGCGGCG
|
c.105+4_105+5insGCGGCG |
splice_region |
AK7 |
2 |
79424 |
2.51813E-5 |
39712 |
0 |
8.54161E-6 |
14-96858600-A-AGCG
|
c.105+4_105+5insGCG |
splice_region |
AK7 |
1 |
79424 |
1.25907E-5 |
39712 |
0 |
NA |
14-96858603-G-A
|
c.105+7G>A |
splice_region |
AK7 |
2 |
79288 |
2.52245E-5 |
39644 |
0 |
4.42243E-5 |
14-96864404-C-T
|
c.106-8C>T |
splice_region |
AK7 |
2 |
80892 |
2.47243E-5 |
40446 |
0 |
NA |
14-96864431-T-A
|
p.Val42Asp |
missense |
AK7 |
2 |
80998 |
2.4692E-5 |
40499 |
0 |
NA |
14-96864440-C-T
|
p.Ser45Leu |
missense |
AK7 |
2 |
81002 |
2.46907E-5 |
40501 |
0 |
3.2963E-5 |
14-96864441-G-A
|
p.Ser45Ser |
synonymous |
AK7 |
4 |
80998 |
4.93839E-5 |
40499 |
0 |
3.1837E-5 |
14-96864455-CAGAGGAAGAGGA-C
|
p.Glu53_Glu56del |
disruptive_inframe_deletion |
AK7 |
52 |
81022 |
6.41801E-4 |
40511 |
0 |
5.73139E-4 |
14-96864455-CAGAGGA-C
|
p.Glu55_Glu56del |
disruptive_inframe_deletion |
AK7 |
3 |
81022 |
3.7027E-5 |
40511 |
0 |
1.27364E-4 |
14-96864455-C-CAGAGGA
|
p.Glu55_Glu56dup |
disruptive_inframe_insertion |
AK7 |
1 |
81022 |
1.23423E-5 |
40511 |
0 |
6.36821E-5 |
14-96864457-G-A
|
p.Glu51Lys |
missense |
AK7 |
2 |
81014 |
2.46871E-5 |
40507 |
0 |
7.95488E-6 |
14-96864459-G-A
|
p.Glu51Glu |
synonymous |
AK7 |
2 |
81014 |
2.46871E-5 |
40507 |
0 |
3.1837E-5 |
14-96864465-G-C
|
p.Glu53Asp |
missense |
AK7 |
2 |
81020 |
2.46853E-5 |
40510 |
0 |
3.97703E-6 |
14-96864474-A-G
|
p.Glu56Glu |
synonymous |
AK7 |
4 |
81024 |
4.93681E-5 |
40512 |
0 |
3.1837E-5 |
14-96864490-G-A
|
p.Ala62Thr |
missense |
AK7 |
2 |
81010 |
2.46883E-5 |
40505 |
0 |
1.64737E-5 |
14-96864491-C-T
|
p.Ala62Val |
missense |
AK7 |
1 |
81006 |
1.23448E-5 |
40503 |
0 |
3.97643E-6 |
14-96864504-T-G
|
p.Ala66Ala |
synonymous |
AK7 |
10 |
81010 |
1.23442E-4 |
40505 |
0 |
0.0020141 |
14-96864507-C-T
|
p.Ser67Ser |
synonymous |
AK7 |
2 |
81016 |
2.46865E-5 |
40508 |
0 |
3.97649E-6 |
14-96864511-A-T
|
p.Thr69Ser |
missense |
AK7 |
5 |
81004 |
6.17253E-5 |
40502 |
0 |
1.59175E-4 |
14-96864529-A-C
|
p.Thr75Pro |
missense |
AK7 |
12 |
80980 |
1.48185E-4 |
40490 |
0 |
5.03525E-4 |
14-96864531-A-G
|
p.Thr75Thr |
synonymous |
AK7 |
2 |
80978 |
2.46981E-5 |
40489 |
0 |
NA |
14-96864539-T-C
|
p.Ile78Thr |
missense |
AK7 |
3 |
80974 |
3.70489E-5 |
40487 |
0 |
2.38588E-5 |
14-96864539-T-G
|
p.Ile78Ser |
missense |
AK7 |
1 |
80974 |
1.23496E-5 |
40487 |
0 |
NA |
14-96864545-G-A
|
p.Gly80Asp |
missense |
AK7 |
3 |
80972 |
3.70498E-5 |
40486 |
0 |
3.97681E-6 |
14-96864548-C-T
|
p.Thr81Met |
missense |
AK7 |
8 |
80964 |
9.88093E-5 |
40482 |
0 |
9.94218E-5 |
14-96864549-G-A
|
p.Thr81Thr |
synonymous |
AK7 |
4 |
80958 |
4.94083E-5 |
40479 |
0 |
2.47141E-5 |
14-96864554-C-G
|
p.Ser83Cys |
missense |
AK7 |
1 |
80940 |
1.23548E-5 |
40470 |
0 |
6.25E-4 |
14-96864570-G-A
|
p.Pro88Pro |
synonymous |
AK7 |
2 |
80880 |
2.4728E-5 |
40440 |
0 |
3.18532E-5 |
14-96864571-C-T
|
p.Arg89Trp |
missense |
AK7 |
1 |
80872 |
1.23652E-5 |
40436 |
0 |
4.94397E-5 |
14-96864572-G-T
|
p.Arg89Leu |
missense |
AK7 |
1 |
80854 |
1.2368E-5 |
40427 |
0 |
NA |
14-96864572-G-A
|
p.Arg89Gln |
missense |
AK7 |
1 |
80854 |
1.2368E-5 |
40427 |
0 |
8.23995E-6 |
14-96864574-C-T
|
p.Pro90Ser |
missense |
AK7 |
1 |
80844 |
1.23695E-5 |
40422 |
0 |
3.29614E-5 |
14-96864579-C-T
|
p.Asp91Asp |
synonymous |
AK7 |
2 |
80820 |
2.47464E-5 |
40410 |
0 |
1.64845E-5 |
14-96864583-G-A
|
p.Ala93Thr |
missense |
AK7 |
1 |
80772 |
1.23805E-5 |
40386 |
0 |
3.97937E-6 |
14-96864584-C-T
|
p.Ala93Val |
missense |
AK7 |
4 |
80750 |
4.95356E-5 |
40375 |
0 |
3.29745E-5 |
14-96864585-G-C
|
p.Ala93Ala |
synonymous |
AK7 |
4 |
80740 |
4.95417E-5 |
40370 |
0 |
1.64883E-5 |
14-96864585-G-A
|
p.Ala93Ala |
synonymous |
AK7 |
5 |
80740 |
6.19272E-5 |
40370 |
0 |
5.03525E-4 |
14-96864591-G-C
|
p.Glu95Asp |
missense |
AK7 |
2 |
80668 |
2.4793E-5 |
40334 |
0 |
1.59219E-5 |
14-96864594-G-A
|
p.Thr96Thr |
synonymous |
AK7 |
6 |
80582 |
7.44583E-5 |
40291 |
0 |
2.54826E-4 |
14-96864598-T-C
|
p.Ser98Pro |
missense+splice_region |
AK7 |
1 |
80524 |
1.24187E-5 |
40262 |
0 |
3.18573E-5 |
14-96864609-C-T
|
p.Pro101Pro |
synonymous |
AK7 |
2 |
80280 |
2.49128E-5 |
40140 |
0 |
9.09061E-5 |
14-96864616-T-C
|
p.Ser104Pro |
missense |
AK7 |
3 |
80156 |
3.7427E-5 |
40078 |
0 |
5.1806E-5 |
14-96871090-T-C
|
c.295-4T>C |
splice_region |
AK7 |
1 |
79918 |
1.25128E-5 |
39959 |
0 |
6.36983E-5 |
14-96871097-A-C
|
p.Ile100Leu |
missense |
AK7 |
1 |
80190 |
1.24704E-5 |
40095 |
0 |
NA |
14-96871104-G-A
|
p.Arg102Gln |
missense |
AK7 |
19052 |
79628 |
0.239263 |
39814 |
2335 |
0.22624 |
14-96871107-A-C
|
p.Glu103Ala |
missense |
AK7 |
2 |
80416 |
2.48707E-5 |
40208 |
0 |
NA |
14-96871109-G-T
|
p.Asp104Tyr |
missense |
AK7 |
5 |
80430 |
6.21659E-5 |
40215 |
0 |
1.59327E-4 |
14-96871121-C-A
|
p.Arg108Ser |
missense |
AK7 |
1 |
80502 |
1.24221E-5 |
40251 |
0 |
8.24416E-6 |
14-96871121-C-T
|
p.Arg108Cys |
missense |
AK7 |
1 |
80502 |
1.24221E-5 |
40251 |
0 |
1.64883E-5 |
14-96871122-G-A
|
p.Arg108His |
missense |
AK7 |
4 |
80508 |
4.96845E-5 |
40254 |
0 |
0.00101937 |
14-96871138-T-C
|
p.Asp113Asp |
synonymous |
AK7 |
1 |
80578 |
1.24103E-5 |
40289 |
0 |
8.24348E-6 |
14-96871145-A-G
|
p.Ile116Val |
missense |
AK7 |
1 |
80560 |
1.24131E-5 |
40280 |
0 |
6.25E-4 |
14-96871147-T-C
|
p.Ile116Ile |
synonymous |
AK7 |
3 |
80592 |
3.72245E-5 |
40296 |
0 |
2.47292E-5 |
14-96871154-A-C
|
p.Ile119Leu |
missense |
AK7 |
1 |
80526 |
1.24183E-5 |
40263 |
0 |
2.47292E-5 |
14-96871155-T-C
|
p.Ile119Thr |
missense |
AK7 |
1 |
80508 |
1.24211E-5 |
40254 |
0 |
NA |
14-96871179-A-C
|
p.Glu127Ala |
missense |
AK7 |
1 |
80444 |
1.2431E-5 |
40222 |
0 |
3.18532E-5 |
14-96871187-A-T
|
p.Ile130Phe |
missense |
AK7 |
1 |
80384 |
1.24403E-5 |
40192 |
0 |
NA |
14-96871201-T-C
|
p.Ser134Ser |
splice_region+synonymous |
AK7 |
4 |
80134 |
4.99164E-5 |
40067 |
0 |
1.19467E-5 |
14-96871208-T-C
|
c.403+6T>C |
splice_region |
AK7 |
2 |
79958 |
2.50131E-5 |
39979 |
0 |
NA |
14-96871209-G-A
|
c.403+7G>A |
splice_region |
AK7 |
2 |
79922 |
2.50244E-5 |
39961 |
0 |
NA |
14-96875176-C-T
|
c.404-8C>T |
splice_region |
AK7 |
2 |
81016 |
2.46865E-5 |
40508 |
0 |
9.57488E-5 |
14-96875178-C-G
|
c.404-6C>G |
splice_region |
AK7 |
2 |
81028 |
2.46828E-5 |
40514 |
0 |
NA |
14-96875178-C-T
|
c.404-6C>T |
splice_region |
AK7 |
1 |
81028 |
1.23414E-5 |
40514 |
0 |
NA |
14-96875206-C-T
|
p.His142His |
synonymous |
AK7 |
2 |
81070 |
2.467E-5 |
40535 |
0 |
3.18309E-5 |
14-96875215-G-A
|
p.Lys145Lys |
synonymous |
AK7 |
1 |
81072 |
1.23347E-5 |
40536 |
0 |
1.98831E-5 |
14-96875224-A-ATT
|
p.Ile150fs |
frameshift |
AK7 |
1 |
81072 |
1.23347E-5 |
40536 |
0 |
NA |
14-96875235-T-C
|
p.Leu152Pro |
missense |
AK7 |
27 |
81068 |
3.33054E-4 |
40534 |
0 |
0.00108232 |
14-96875245-G-T
|
p.Val155Val |
synonymous |
AK7 |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
NA |
14-96875247-T-C
|
p.Met156Thr |
missense |
AK7 |
2 |
81074 |
2.46688E-5 |
40537 |
0 |
NA |
14-96875262-C-T
|
p.Ser161Phe |
missense |
AK7 |
1 |
81060 |
1.23365E-5 |
40530 |
0 |
NA |
14-96875275-C-T
|
p.Asp165Asp |
synonymous |
AK7 |
1 |
81038 |
1.23399E-5 |
40519 |
0 |
NA |
14-96875278-C-T
|
p.Pro166Pro |
splice_region+synonymous |
AK7 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
3.18532E-5 |
14-96875279-G-A
|
c.498+1G>A |
splice_donor |
AK7 |
3 |
81034 |
3.70215E-5 |
40517 |
0 |
2.48369E-5 |
14-96875285-A-T
|
c.498+7A>T |
splice_region |
AK7 |
4 |
81030 |
4.93644E-5 |
40515 |
0 |
4.38509E-5 |
14-96875286-G-A
|
c.498+8G>A |
splice_region |
AK7 |
20 |
81028 |
2.46828E-4 |
40514 |
0 |
1.15509E-4 |
14-96875286-G-C
|
c.498+8G>C |
splice_region |
AK7 |
3 |
81028 |
3.70242E-5 |
40514 |
0 |
6.3674E-5 |
14-96887151-T-C
|
c.499-8T>C |
splice_region |
AK7 |
169 |
79968 |
0.00211335 |
39984 |
1 |
0.00496847 |
14-96887154-A-G
|
c.499-5A>G |
splice_region |
AK7 |
4 |
80116 |
4.99276E-5 |
40058 |
0 |
9.55353E-5 |
14-96887155-A-G
|
c.499-4A>G |
splice_region |
AK7 |
1 |
80156 |
1.24757E-5 |
40078 |
0 |
NA |
14-96887167-T-C
|
p.Ser169Ser |
synonymous |
AK7 |
51 |
80416 |
6.34202E-4 |
40208 |
1 |
4.54687E-4 |
14-96887189-G-C
|
p.Asp177His |
missense |
AK7 |
1 |
80566 |
1.24122E-5 |
40283 |
0 |
NA |
14-96887196-G-A
|
p.Arg179Gln |
missense |
AK7 |
1 |
80576 |
1.24106E-5 |
40288 |
0 |
8.24974E-6 |
14-96887227-C-A
|
p.Asp189Glu |
missense |
AK7 |
1 |
80612 |
1.24051E-5 |
40306 |
0 |
3.98099E-6 |
14-96887228-C-T
|
p.His190Tyr |
missense |
AK7 |
7 |
80618 |
8.68292E-5 |
40309 |
0 |
3.98222E-6 |
14-96887235-A-G
|
p.Asn192Ser |
missense |
AK7 |
1 |
80552 |
1.24143E-5 |
40276 |
0 |
3.18471E-5 |
14-96887248-G-T
|
p.Met196Ile |
missense |
AK7 |
4 |
80502 |
4.96882E-5 |
40251 |
0 |
3.18492E-5 |
14-96887256-A-G
|
p.Lys199Arg |
missense |
AK7 |
5 |
80418 |
6.21751E-5 |
40209 |
0 |
3.34471E-4 |
14-96887268-AG-A
|
p.Phe200fs |
frameshift |
AK7 |
1 |
80228 |
1.24645E-5 |
40114 |
0 |
4.38548E-5 |
14-96904164-T-C
|
c.610-8T>C |
splice_region |
AK7 |
1 |
80028 |
1.24956E-5 |
40014 |
0 |
4.11218E-6 |
14-96904185-C-A
|
p.Ala208Glu |
missense |
AK7 |
1 |
80374 |
1.24418E-5 |
40187 |
0 |
NA |
14-96904193-G-A
|
p.Val211Ile |
missense |
AK7 |
1 |
80432 |
1.24329E-5 |
40216 |
0 |
1.32481E-4 |
14-96904196-G-T
|
p.Val212Phe |
missense |
AK7 |
1 |
80498 |
1.24227E-5 |
40249 |
0 |
1.65788E-5 |
14-96904201-T-C
|
p.Ala213Ala |
synonymous |
AK7 |
1 |
80570 |
1.24116E-5 |
40285 |
0 |
8.28157E-6 |
14-96904204-T-G
|
p.Ala214Ala |
synonymous |
AK7 |
1 |
80586 |
1.24091E-5 |
40293 |
0 |
NA |
14-96904210-C-T
|
p.Leu216Leu |
synonymous |
AK7 |
2 |
80608 |
2.48114E-5 |
40304 |
0 |
NA |
14-96904219-A-G
|
p.Gly219Gly |
synonymous |
AK7 |
1 |
80606 |
1.2406E-5 |
40303 |
0 |
NA |
14-96904221-C-T
|
p.Ala220Val |
missense |
AK7 |
43 |
80588 |
5.33578E-4 |
40294 |
0 |
6.85542E-4 |
14-96904222-G-A
|
p.Ala220Ala |
synonymous |
AK7 |
15 |
80596 |
1.86113E-4 |
40298 |
0 |
3.50341E-4 |
14-96904229-G-A
|
p.Gly223Ser |
missense |
AK7 |
1 |
80606 |
1.2406E-5 |
40303 |
0 |
NA |
14-96904232-A-G
|
p.Met224Val |
missense |
AK7 |
1 |
80586 |
1.24091E-5 |
40293 |
0 |
3.18431E-5 |
14-96904243-A-T
|
p.Thr227Thr |
synonymous |
AK7 |
27 |
80518 |
3.35329E-4 |
40259 |
0 |
4.46059E-4 |
14-96909063-T-G
|
c.691-4T>G |
splice_region |
AK7 |
1 |
80654 |
1.23986E-5 |
40327 |
0 |
NA |
14-96909081-C-T
|
p.Gly235Gly |
synonymous |
AK7 |
2 |
80802 |
2.47519E-5 |
40401 |
0 |
3.97649E-5 |
14-96909082-G-A
|
p.Glu236Lys |
missense |
AK7 |
3 |
80810 |
3.71241E-5 |
40405 |
0 |
1.27397E-4 |
14-96909100-G-A
|
p.Val242Ile |
missense |
AK7 |
1 |
80858 |
1.23674E-5 |
40429 |
0 |
NA |
14-96909108-C-T
|
p.Gly244Gly |
synonymous |
AK7 |
1 |
80830 |
1.23716E-5 |
40415 |
0 |
NA |
14-96909108-C-A
|
p.Gly244Gly |
synonymous |
AK7 |
1 |
80830 |
1.23716E-5 |
40415 |
0 |
8.23655E-6 |
14-96909109-G-A
|
p.Asp245Asn |
missense |
AK7 |
1 |
80842 |
1.23698E-5 |
40421 |
0 |
1.64731E-5 |
14-96909109-G-T
|
p.Asp245Tyr |
missense |
AK7 |
1 |
80842 |
1.23698E-5 |
40421 |
0 |
NA |
14-96909125-T-C
|
p.Ile250Thr |
missense |
AK7 |
1 |
80784 |
1.23787E-5 |
40392 |
0 |
NA |
14-96909151-G-C
|
p.Ala259Pro |
missense |
AK7 |
2 |
80678 |
2.47899E-5 |
40339 |
0 |
7.95444E-6 |
14-96909158-A-G
|
c.779+3A>G |
splice_region |
AK7 |
2 |
80620 |
2.48077E-5 |
40310 |
0 |
9.55414E-5 |
14-96912860-A-G
|
p.Ile262Met |
missense |
AK7 |
1 |
80994 |
1.23466E-5 |
40497 |
0 |
8.23778E-6 |
14-96912866-C-T
|
p.Asn264Asn |
synonymous |
AK7 |
1 |
80992 |
1.23469E-5 |
40496 |
0 |
6.37227E-5 |
14-96912867-G-T
|
p.Val265Phe |
missense |
AK7 |
2 |
80996 |
2.46926E-5 |
40498 |
0 |
3.29506E-5 |
14-96912867-G-A
|
p.Val265Ile |
missense |
AK7 |
2 |
80996 |
2.46926E-5 |
40498 |
0 |
0.001875 |
14-96912870-A-G
|
p.Ile266Val |
missense |
AK7 |
10 |
81010 |
1.23442E-4 |
40505 |
0 |
6.25E-4 |
14-96912878-C-T
|
p.His268His |
synonymous |
AK7 |
2 |
81022 |
2.46847E-5 |
40511 |
0 |
1.19299E-5 |
14-96912892-A-G
|
p.His273Arg |
missense |
AK7 |
9 |
81030 |
1.1107E-4 |
40515 |
0 |
4.77951E-4 |
14-96912912-G-A
|
p.Glu280Lys |
missense |
AK7 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
1.19294E-5 |
14-96912917-T-C
|
p.Ser281Ser |
synonymous |
AK7 |
2 |
81008 |
2.46889E-5 |
40504 |
0 |
NA |
14-96912937-T-C
|
p.Ile288Thr |
missense |
AK7 |
1 |
80966 |
1.23509E-5 |
40483 |
0 |
6.37064E-5 |
14-96912940-T-G
|
p.Val289Gly |
missense |
AK7 |
1 |
80966 |
1.23509E-5 |
40483 |
0 |
NA |
14-96912950-G-A
|
c.870+6G>A |
splice_region |
AK7 |
1 |
80942 |
1.23545E-5 |
40471 |
0 |
2.47321E-5 |
14-96912951-T-C
|
c.870+7T>C |
splice_region |
AK7 |
1 |
80936 |
1.23554E-5 |
40468 |
0 |
1.64878E-5 |
14-96916141-T-C
|
p.Cys291Cys |
splice_region+synonymous |
AK7 |
2 |
80474 |
2.48527E-5 |
40237 |
0 |
2.9779E-5 |
14-96916152-A-C
|
p.Asn295Thr |
missense |
AK7 |
1 |
80594 |
1.24079E-5 |
40297 |
0 |
NA |
14-96916163-G-C
|
p.Gly299Arg |
missense |
AK7 |
1 |
80610 |
1.24054E-5 |
40305 |
0 |
NA |
14-96916164-G-A
|
p.Gly299Glu |
missense |
AK7 |
2 |
80606 |
2.4812E-5 |
40303 |
1 |
4.02739E-6 |
14-96916165-G-A
|
p.Gly299Gly |
synonymous |
AK7 |
31 |
80604 |
3.84596E-4 |
40302 |
0 |
2.25472E-4 |
14-96916195-A-G
|
p.Ala309Ala |
synonymous |
AK7 |
4 |
80536 |
4.96672E-5 |
40268 |
0 |
3.21647E-5 |
14-96916204-C-T
|
p.Thr312Thr |
synonymous |
AK7 |
1 |
80506 |
1.24214E-5 |
40253 |
0 |
9.09041E-6 |
14-96916215-C-T
|
p.Thr316Met |
missense+splice_region |
AK7 |
1 |
80044 |
1.24931E-5 |
40022 |
0 |
3.69379E-5 |
14-96916220-A-C
|
c.948+4A>C |
splice_region |
AK7 |
1 |
80116 |
1.24819E-5 |
40058 |
0 |
9.82511E-6 |
14-96917758-C-G
|
p.Gln317Glu |
missense+splice_region |
AK7 |
2 |
79900 |
2.50313E-5 |
39950 |
0 |
1.71857E-5 |
14-96917764-T-C
|
p.Cys319Arg |
missense |
AK7 |
1 |
79934 |
1.25103E-5 |
39967 |
0 |
3.1837E-5 |
14-96917765-G-A
|
p.Cys319Tyr |
missense |
AK7 |
1 |
80102 |
1.24841E-5 |
40051 |
0 |
6.37105E-5 |
14-96917779-C-T
|
p.Leu324Leu |
synonymous |
AK7 |
2 |
80164 |
2.49489E-5 |
40082 |
0 |
6.25E-4 |
14-96917791-A-G
|
p.Arg328Gly |
missense |
AK7 |
1 |
80382 |
1.24406E-5 |
40191 |
0 |
4.22883E-6 |
14-96917801-C-T
|
p.Ala331Val |
missense |
AK7 |
6 |
80494 |
7.45397E-5 |
40247 |
0 |
1.65695E-5 |
14-96917802-G-A
|
p.Ala331Ala |
synonymous |
AK7 |
4 |
80498 |
4.96907E-5 |
40249 |
0 |
2.48386E-4 |
14-96917805-C-G
|
p.Leu332Leu |
synonymous |
AK7 |
1 |
80546 |
1.24153E-5 |
40273 |
0 |
8.27499E-6 |
14-96917809-G-A
|
p.Val334Met |
missense |
AK7 |
1 |
80512 |
1.24205E-5 |
40256 |
0 |
3.18471E-5 |
14-96917816-A-C
|
p.Glu336Ala |
missense |
AK7 |
1 |
80526 |
1.24183E-5 |
40263 |
0 |
NA |
14-96917825-A-G
|
p.Asn339Ser |
missense |
AK7 |
2 |
80690 |
2.47862E-5 |
40345 |
0 |
6.36943E-5 |
14-96917828-T-C
|
p.Ile340Thr |
missense |
AK7 |
3 |
80686 |
3.71812E-5 |
40343 |
0 |
NA |
14-96917830-C-T
|
p.Arg341* |
stop_gained |
AK7 |
1 |
80674 |
1.23956E-5 |
40337 |
0 |
3.18512E-5 |
14-96917831-G-A
|
p.Arg341Gln |
missense |
AK7 |
4 |
80654 |
4.95946E-5 |
40327 |
0 |
6.36943E-5 |
14-96917867-A-C
|
p.Asn353Thr |
missense |
AK7 |
1 |
80528 |
1.2418E-5 |
40264 |
0 |
5.03525E-4 |
14-96917868-C-T
|
p.Asn353Asn |
synonymous |
AK7 |
1 |
80500 |
1.24224E-5 |
40250 |
0 |
NA |
14-96917871-T-C
|
p.Thr354Thr |
synonymous |
AK7 |
1 |
80332 |
1.24483E-5 |
40166 |
0 |
8.27705E-5 |
14-96917877-C-T
|
p.Leu356Leu |
synonymous |
AK7 |
13 |
80150 |
1.62196E-4 |
40075 |
0 |
7.47471E-5 |
14-96917880-G-A
|
p.Lys357Lys |
synonymous |
AK7 |
15 |
80140 |
1.87172E-4 |
40070 |
0 |
6.25E-4 |
14-96917885-A-G
|
p.Tyr359Cys |
missense |
AK7 |
1 |
79542 |
1.2572E-5 |
39771 |
0 |
NA |
14-96917886-C-A
|
p.Tyr359* |
stop_gained |
AK7 |
1 |
79538 |
1.25726E-5 |
39769 |
0 |
NA |
14-96917887-A-G
|
p.Lys360Glu |
missense |
AK7 |
80 |
79516 |
0.00100609 |
39758 |
0 |
0.00175137 |
14-96917902-T-C
|
p.Leu365Leu |
synonymous |
AK7 |
1 |
78408 |
1.27538E-5 |
39204 |
0 |
4.76095E-6 |
14-96917905-A-T
|
p.Met366Leu |
missense+splice_region |
AK7 |
1 |
78294 |
1.27724E-5 |
39147 |
0 |
4.84308E-6 |
14-96917913-T-C
|
c.1098+6T>C |
splice_region |
AK7 |
1 |
77736 |
1.28641E-5 |
38868 |
0 |
2.5425E-5 |
14-96922687-A-T
|
p.Ile368Phe |
missense |
AK7 |
1 |
80936 |
1.23554E-5 |
40468 |
0 |
NA |
14-96922708-C-T
|
p.Pro375Ser |
missense |
AK7 |
1 |
80966 |
1.23509E-5 |
40483 |
0 |
2.78563E-5 |
14-96922728-C-A
|
p.Ser381Ser |
synonymous |
AK7 |
1 |
80986 |
1.23478E-5 |
40493 |
0 |
NA |
14-96922729-A-G
|
p.Ser382Gly |
missense |
AK7 |
1 |
80976 |
1.23493E-5 |
40488 |
0 |
3.29674E-5 |
14-96922738-A-G
|
p.Lys385Glu |
missense |
AK7 |
1008 |
80972 |
0.0124487 |
40486 |
39 |
0.0270839 |
14-96922745-T-C
|
p.Leu387Ser |
missense |
AK7 |
1 |
81006 |
1.23448E-5 |
40503 |
0 |
3.97697E-6 |
14-96922750-A-G
|
p.Asn389Asp |
missense |
AK7 |
1 |
81006 |
1.23448E-5 |
40503 |
0 |
3.97719E-6 |
14-96922751-A-G
|
p.Asn389Ser |
missense |
AK7 |
1 |
81008 |
1.23445E-5 |
40504 |
0 |
3.18552E-5 |
14-96922752-C-G
|
p.Asn389Lys |
missense |
AK7 |
69579 |
80782 |
0.861318 |
40391 |
30108 |
0.903827 |
14-96922758-C-T
|
p.Tyr391Tyr |
synonymous |
AK7 |
2 |
80986 |
2.46956E-5 |
40493 |
0 |
NA |
14-96922759-A-G
|
p.Lys392Glu |
missense |
AK7 |
1 |
80988 |
1.23475E-5 |
40494 |
0 |
NA |
14-96922766-A-G
|
p.His394Arg |
missense |
AK7 |
71 |
80990 |
8.76651E-4 |
40495 |
1 |
0.00288355 |
14-96922771-A-G
|
p.Ile396Val |
missense |
AK7 |
4 |
80986 |
4.93913E-5 |
40493 |
0 |
3.18532E-5 |
14-96922783-G-A
|
p.Asp400Asn |
missense |
AK7 |
2 |
80964 |
2.47023E-5 |
40482 |
0 |
3.98153E-6 |
14-96922810-C-T
|
p.Leu409Leu |
splice_region+synonymous |
AK7 |
3 |
80886 |
3.70892E-5 |
40443 |
0 |
4.96623E-5 |
14-96924413-T-C
|
c.1228-7T>C |
splice_region |
AK7 |
2 |
77472 |
2.58158E-5 |
38736 |
0 |
NA |
14-96924425-G-A
|
p.Ala411Ala |
synonymous |
AK7 |
2 |
77636 |
2.57612E-5 |
38818 |
0 |
3.18735E-5 |
14-96924433-C-T
|
p.Ala414Val |
missense |
AK7 |
1 |
77646 |
1.2879E-5 |
38823 |
0 |
4.02346E-6 |
14-96924440-C-T
|
p.Asn416Asn |
synonymous |
AK7 |
5 |
77616 |
6.44197E-5 |
38808 |
0 |
3.21831E-5 |
14-96924441-G-A
|
p.Asp417Asn |
missense |
AK7 |
3 |
77614 |
3.86528E-5 |
38807 |
0 |
1.65006E-5 |
14-96924447-G-A
|
p.Gly419Arg |
missense |
AK7 |
4 |
77610 |
5.15398E-5 |
38805 |
0 |
3.30044E-5 |
14-96924454-GAGA-G
|
p.Glu424del |
disruptive_inframe_deletion |
AK7 |
1 |
77526 |
1.28989E-5 |
38763 |
0 |
5.20833E-4 |
14-96924454-G-A
|
p.Gly421Glu |
missense |
AK7 |
1 |
77526 |
1.28989E-5 |
38763 |
0 |
8.04751E-6 |
14-96924468-G-A
|
p.Glu426Lys |
missense |
AK7 |
3 |
77286 |
3.88169E-5 |
38643 |
0 |
3.30458E-5 |
14-96924476-A-AGAGGAG
|
p.Glu431_Glu432dup |
conservative_inframe_insertion |
AK7 |
1 |
77200 |
1.29534E-5 |
38600 |
0 |
NA |
14-96924476-A-G
|
p.Glu428Glu |
synonymous |
AK7 |
1 |
77200 |
1.29534E-5 |
38600 |
0 |
8.26282E-6 |
14-96924486-G-A
|
p.Glu432Lys |
missense |
AK7 |
1 |
77068 |
1.29756E-5 |
38534 |
0 |
NA |
14-96924503-A-G
|
p.Ala437Ala |
synonymous |
AK7 |
13 |
76954 |
1.68932E-4 |
38477 |
0 |
4.77829E-4 |
14-96924510-C-T
|
p.Leu440Phe |
missense |
AK7 |
1 |
76924 |
1.29998E-5 |
38462 |
0 |
NA |
14-96924519-G-A
|
p.Gly443Ser |
missense |
AK7 |
1 |
76886 |
1.30063E-5 |
38443 |
0 |
8.27349E-6 |
14-96924528-G-A
|
p.Glu446Lys |
missense |
AK7 |
1 |
76908 |
1.30025E-5 |
38454 |
0 |
0.00125 |
14-96924532-G-T
|
p.Ser447Ile |
missense |
AK7 |
2 |
76900 |
2.60078E-5 |
38450 |
0 |
1.61186E-5 |
14-96924534-A-G
|
p.Met448Val |
missense |
AK7 |
2 |
76896 |
2.60092E-5 |
38448 |
0 |
8.28061E-6 |
14-96924548-A-G
|
p.Ala452Ala |
splice_region+synonymous |
AK7 |
4 |
76748 |
5.21186E-5 |
38374 |
0 |
6.37227E-5 |
14-96937825-C-T
|
p.Asp456Asp |
synonymous |
AK7 |
71 |
79084 |
8.9778E-4 |
39542 |
0 |
0.001664 |
14-96937826-G-A
|
p.Asp457Asn |
missense |
AK7 |
1 |
79220 |
1.26231E-5 |
39610 |
0 |
6.40328E-5 |
14-96937843-A-G
|
p.Arg462Arg |
synonymous |
AK7 |
1 |
79986 |
1.25022E-5 |
39993 |
0 |
NA |
14-96937875-G-T
|
p.Cys473Phe |
missense |
AK7 |
2 |
80346 |
2.48923E-5 |
40173 |
0 |
2.48221E-5 |
14-96937903-A-T
|
p.Gly482Gly |
synonymous |
AK7 |
1 |
80434 |
1.24326E-5 |
40217 |
0 |
8.26078E-6 |
14-96937906-C-A
|
p.Phe483Leu |
missense |
AK7 |
1 |
80426 |
1.24338E-5 |
40213 |
0 |
NA |
14-96937908-C-T
|
p.Pro484Leu |
missense |
AK7 |
5 |
80424 |
6.21705E-5 |
40212 |
0 |
NA |
14-96937909-A-G
|
p.Pro484Pro |
synonymous |
AK7 |
63 |
80426 |
7.83329E-4 |
40213 |
0 |
0.00139616 |
14-96937917-A-G
|
p.Tyr487Cys |
missense |
AK7 |
6 |
80358 |
7.46659E-5 |
40179 |
0 |
1.72354E-5 |
14-96937933-C-T
|
p.Asp492Asp |
synonymous |
AK7 |
3 |
80140 |
3.74345E-5 |
40070 |
0 |
1.66008E-5 |
14-96937938-T-A
|
p.Phe494Tyr |
missense |
AK7 |
1 |
79770 |
1.2536E-5 |
39885 |
0 |
NA |
14-96937941-A-G
|
p.Asn495Ser |
missense+splice_region |
AK7 |
2 |
79606 |
2.51237E-5 |
39803 |
0 |
8.32737E-6 |
14-96939031-TGAG-T
|
p.Glu502del |
disruptive_inframe_deletion |
AK7 |
6 |
80508 |
7.45268E-5 |
40254 |
0 |
7.9583E-6 |
14-96939059-A-G
|
p.Arg508Gly |
missense |
AK7 |
2 |
80526 |
2.48367E-5 |
40263 |
0 |
3.18532E-5 |
14-96939062-A-G
|
p.Met509Val |
missense |
AK7 |
1 |
80490 |
1.24239E-5 |
40245 |
0 |
NA |
14-96939068-C-G
|
p.Pro511Ala |
missense |
AK7 |
1 |
80498 |
1.24227E-5 |
40249 |
0 |
NA |
14-96939095-A-G
|
c.1555+3A>G |
splice_region |
AK7 |
1 |
80212 |
1.2467E-5 |
40106 |
0 |
5.09407E-5 |
14-96939098-T-C
|
c.1555+6T>C |
splice_region |
AK7 |
1 |
80170 |
1.24735E-5 |
40085 |
0 |
NA |
14-96944799-C-T
|
c.1556-3C>T |
splice_region |
AK7 |
1 |
80420 |
1.24347E-5 |
40210 |
0 |
NA |
14-96944807-G-A
|
p.Val521Ile |
missense |
AK7 |
211 |
80434 |
0.00262327 |
40217 |
1 |
0.005 |
14-96944807-G-T
|
p.Val521Phe |
missense |
AK7 |
3 |
80436 |
3.72967E-5 |
40218 |
0 |
8.2371E-6 |
14-96944809-T-C
|
p.Val521Val |
synonymous |
AK7 |
2 |
80478 |
2.48515E-5 |
40239 |
0 |
8.23696E-6 |
14-96944812-T-A
|
p.Cys522* |
stop_gained |
AK7 |
1 |
80486 |
1.24245E-5 |
40243 |
0 |
NA |
14-96944826-C-T
|
p.Ser527Leu |
missense |
AK7 |
2 |
80680 |
2.47893E-5 |
40340 |
0 |
6.25E-4 |
14-96944827-G-T
|
p.Ser527Ser |
synonymous |
AK7 |
1 |
80734 |
1.23864E-5 |
40367 |
0 |
NA |
14-96944827-G-A
|
p.Ser527Ser |
synonymous |
AK7 |
2 |
80734 |
2.47727E-5 |
40367 |
0 |
3.18715E-5 |
14-96944830-T-A
|
p.Asp528Glu |
missense |
AK7 |
2 |
80758 |
2.47653E-5 |
40379 |
0 |
NA |
14-96944838-T-C
|
p.Leu531Pro |
missense |
AK7 |
2 |
80896 |
2.47231E-5 |
40448 |
1 |
1.98883E-5 |
14-96944843-G-A
|
p.Glu533Lys |
missense |
AK7 |
11 |
80990 |
1.35819E-4 |
40495 |
0 |
0.00100705 |
14-96944847-G-A
|
p.Arg534His |
missense |
AK7 |
6 |
81022 |
7.4054E-5 |
40511 |
0 |
5.16997E-5 |
14-96944872-C-T
|
p.Ile542Ile |
synonymous |
AK7 |
10 |
81078 |
1.23338E-4 |
40539 |
0 |
7.41278E-5 |
14-96944873-G-A
|
p.Val543Met |
missense |
AK7 |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
1.5906E-5 |
14-96944874-T-C
|
p.Val543Ala |
missense |
AK7 |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
NA |
14-96944878-G-A
|
p.Ala544Ala |
synonymous |
AK7 |
3486 |
81022 |
0.0430254 |
40511 |
80 |
0.0532093 |
14-96944878-G-C
|
p.Ala544Ala |
synonymous |
AK7 |
1 |
81072 |
1.23347E-5 |
40536 |
0 |
3.97678E-6 |
14-96944900-C-T
|
p.Arg552* |
stop_gained |
AK7 |
2 |
81076 |
2.46682E-5 |
40538 |
0 |
1.64737E-5 |
14-96944901-G-A
|
p.Arg552Gln |
missense |
AK7 |
6 |
81076 |
7.40046E-5 |
40538 |
0 |
5.03525E-4 |
14-96944903-T-A
|
p.Phe553Ile |
missense |
AK7 |
8 |
81074 |
9.86753E-5 |
40537 |
0 |
3.50252E-4 |
14-96944909-C-T
|
p.Arg555Trp |
missense |
AK7 |
3 |
81070 |
3.70051E-5 |
40535 |
0 |
6.25E-4 |
14-96944910-G-C
|
p.Arg555Pro |
missense |
AK7 |
2 |
81070 |
2.467E-5 |
40535 |
0 |
3.97671E-6 |
14-96944910-G-A
|
p.Arg555Gln |
missense |
AK7 |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
3.1839E-5 |
14-96944922-A-G
|
p.Asn559Ser |
missense |
AK7 |
3 |
81064 |
3.70078E-5 |
40532 |
0 |
6.25E-4 |
14-96944927-C-T
|
p.Arg561Trp |
missense |
AK7 |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
6.25E-4 |
14-96944928-G-C
|
p.Arg561Pro |
missense |
AK7 |
1 |
81072 |
1.23347E-5 |
40536 |
0 |
3.97655E-6 |
14-96944928-G-A
|
p.Arg561Gln |
missense |
AK7 |
1 |
81072 |
1.23347E-5 |
40536 |
0 |
8.2371E-6 |
14-96944941-C-T
|
p.Ile565Ile |
synonymous |
AK7 |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
6.36862E-5 |
14-96944944-C-T
|
p.Asp566Asp |
synonymous |
AK7 |
6 |
81068 |
7.40119E-5 |
40534 |
0 |
1.91071E-4 |
14-96944947-T-C
|
p.Asp567Asp |
synonymous |
AK7 |
3 |
81064 |
3.70078E-5 |
40532 |
0 |
NA |
14-96944952-C-A
|
p.Thr569Asn |
missense |
AK7 |
2 |
81058 |
2.46737E-5 |
40529 |
0 |
6.36983E-5 |
14-96944953-T-C
|
p.Thr569Thr |
synonymous |
AK7 |
1 |
81062 |
1.23362E-5 |
40531 |
0 |
3.97665E-6 |
14-96944955-T-C
|
p.Val570Ala |
missense |
AK7 |
1 |
81060 |
1.23365E-5 |
40530 |
0 |
1.64818E-5 |
14-96944967-T-C
|
p.Phe574Ser |
missense |
AK7 |
1 |
81034 |
1.23405E-5 |
40517 |
0 |
0.00100705 |
14-96944969-G-A
|
p.Asp575Asn |
missense |
AK7 |
1 |
81026 |
1.23417E-5 |
40513 |
0 |
NA |
14-96944973-A-G
|
p.Glu576Gly |
missense |
AK7 |
2 |
81010 |
2.46883E-5 |
40505 |
0 |
NA |
14-96944975-C-T
|
p.Leu577Phe |
missense |
AK7 |
1 |
81016 |
1.23432E-5 |
40508 |
0 |
3.29935E-5 |
14-96944977-T-G
|
p.Leu577Leu |
synonymous |
AK7 |
1 |
81004 |
1.23451E-5 |
40502 |
0 |
4.77236E-5 |
14-96944988-C-T
|
p.Pro581Leu |
missense |
AK7 |
2 |
80964 |
2.47023E-5 |
40482 |
0 |
3.3066E-5 |
14-96944989-G-A
|
p.Pro581Pro |
synonymous |
AK7 |
49 |
80942 |
6.05372E-4 |
40471 |
0 |
6.69131E-4 |
14-96944992-A-G
|
p.Ile582Met |
missense |
AK7 |
1 |
80932 |
1.23561E-5 |
40466 |
0 |
8.2765E-6 |
14-96949324-T-C
|
p.Leu2Pro |
missense |
AK7 |
1 |
80892 |
1.23622E-5 |
40446 |
0 |
1.66467E-5 |
14-96949330-T-G
|
p.Phe4Cys |
missense |
AK7 |
1 |
80898 |
1.23612E-5 |
40449 |
0 |
NA |
14-96949332-A-G
|
p.Lys5Glu |
missense |
AK7 |
2 |
80914 |
2.47176E-5 |
40457 |
0 |
NA |
14-96949353-G-A
|
p.Asp591Asn |
missense |
AK7 |
2 |
80954 |
2.47054E-5 |
40477 |
0 |
NA |
14-96949369-T-C
|
p.Leu596Pro |
missense |
AK7 |
1 |
80968 |
1.23506E-5 |
40484 |
0 |
NA |
14-96949399-G-C
|
p.Gly606Ala |
missense |
AK7 |
1 |
80944 |
1.23542E-5 |
40472 |
0 |
NA |
14-96949403-G-A
|
p.Glu607Glu |
synonymous |
AK7 |
1 |
80946 |
1.23539E-5 |
40473 |
0 |
8.24266E-6 |
14-96949407-C-T
|
p.Arg609* |
stop_gained |
AK7 |
2 |
80934 |
2.47115E-5 |
40467 |
0 |
8.24253E-6 |
14-96949408-G-A
|
p.Arg609Gln |
missense |
AK7 |
1 |
80930 |
1.23564E-5 |
40465 |
0 |
4.1214E-5 |
14-96949414-A-G
|
p.Tyr611Cys |
missense |
AK7 |
2 |
80926 |
2.47139E-5 |
40463 |
0 |
NA |
14-96949415-T-C
|
p.Tyr611Tyr |
synonymous |
AK7 |
1 |
80922 |
1.23576E-5 |
40461 |
0 |
NA |
14-96949423-C-T
|
p.Thr614Ile |
missense |
AK7 |
1 |
80908 |
1.23597E-5 |
40454 |
0 |
NA |
14-96949427-C-A
|
p.Asp615Glu |
missense |
AK7 |
5 |
80910 |
6.17971E-5 |
40455 |
0 |
3.1841E-5 |
14-96949427-C-T
|
p.Asp615Asp |
synonymous |
AK7 |
5 |
80910 |
6.17971E-5 |
40455 |
0 |
5.77148E-5 |
14-96949428-G-A
|
p.Glu616Lys |
missense |
AK7 |
10 |
80898 |
1.23612E-4 |
40449 |
0 |
2.90466E-4 |
14-96949434-A-C
|
p.Lys618Gln |
missense |
AK7 |
1 |
80890 |
1.23625E-5 |
40445 |
0 |
8.2496E-6 |
14-96949447-A-G
|
p.Glu622Gly |
missense |
AK7 |
3 |
80868 |
3.70975E-5 |
40434 |
0 |
NA |
14-96949449-C-T
|
p.Arg623Trp |
missense |
AK7 |
9 |
80846 |
1.11323E-4 |
40423 |
0 |
1.59266E-4 |
14-96949450-G-A
|
p.Arg623Gln |
missense |
AK7 |
4 |
80850 |
4.94743E-5 |
40425 |
0 |
4.77688E-5 |
14-96949455-G-A
|
p.Ala625Thr |
missense |
AK7 |
2 |
80828 |
2.47439E-5 |
40414 |
0 |
1.65931E-5 |
14-96949459-C-T
|
p.Ala626Val |
missense |
AK7 |
4 |
80782 |
4.9516E-5 |
40391 |
0 |
2.38983E-5 |
14-96949460-G-A
|
p.Ala626Ala |
synonymous |
AK7 |
3 |
80786 |
3.71351E-5 |
40393 |
0 |
6.25E-4 |
14-96949467-C-T
|
p.Arg629Trp |
missense |
AK7 |
1 |
80760 |
1.23824E-5 |
40380 |
0 |
7.96787E-6 |
14-96949468-G-A
|
p.Arg629Gln |
missense |
AK7 |
7 |
80762 |
8.66744E-5 |
40381 |
0 |
1.03597E-4 |
14-96949469-G-A
|
p.Arg629Arg |
synonymous |
AK7 |
3 |
80750 |
3.71517E-5 |
40375 |
0 |
1.59422E-5 |
14-96949476-A-G
|
p.Arg632Gly |
missense |
AK7 |
3 |
80716 |
3.71674E-5 |
40358 |
0 |
1.27495E-4 |
14-96949481-G-C
|
p.Glu633Asp |
missense |
AK7 |
1 |
80686 |
1.23937E-5 |
40343 |
0 |
NA |
14-96949487-T-G
|
p.Ala635Ala |
synonymous |
AK7 |
1 |
80636 |
1.24014E-5 |
40318 |
0 |
8.68342E-6 |
14-96949489-A-C
|
p.Glu636Ala |
missense |
AK7 |
1 |
80626 |
1.24029E-5 |
40313 |
0 |
1.99776E-5 |
14-96949490-G-A
|
p.Glu636Glu |
synonymous |
AK7 |
1 |
80656 |
1.23983E-5 |
40328 |
0 |
NA |
14-96949500-C-T
|
p.Arg640Cys |
missense |
AK7 |
1 |
80522 |
1.2419E-5 |
40261 |
0 |
2.80831E-5 |
14-96949501-G-T
|
p.Arg640Leu |
missense |
AK7 |
1 |
80492 |
1.24236E-5 |
40246 |
0 |
3.18756E-5 |
14-96949518-G-A
|
p.Val646Met |
missense |
AK7 |
29 |
80348 |
3.6093E-4 |
40174 |
0 |
0.0015121 |
14-96949518-G-T
|
p.Val646Leu |
missense |
AK7 |
1 |
80354 |
1.24449E-5 |
40177 |
0 |
NA |
14-96949519-T-A
|
p.Val646Glu |
missense |
AK7 |
1 |
80326 |
1.24493E-5 |
40163 |
0 |
1.06685E-5 |
14-96949521-G-A
|
p.Glu647Lys |
missense |
AK7 |
1 |
80330 |
1.24486E-5 |
40165 |
0 |
NA |
14-96949524-A-G
|
p.Met648Val |
missense |
AK7 |
1 |
80262 |
1.24592E-5 |
40131 |
0 |
NA |
14-96949535-G-T
|
p.Lys651Asn |
missense |
AK7 |
1 |
79984 |
1.25025E-5 |
39992 |
0 |
0.00125156 |
14-96949542-C-T
|
p.Arg654Cys |
missense |
AK7 |
2 |
79410 |
2.51857E-5 |
39705 |
0 |
1.38141E-5 |
14-96953237-T-A
|
p.Asn659Lys |
missense+splice_region |
AK7 |
1 |
80920 |
1.23579E-5 |
40460 |
0 |
3.9867E-6 |
14-96953240-A-G
|
p.Lys660Lys |
synonymous |
AK7 |
1 |
80944 |
1.23542E-5 |
40472 |
0 |
3.19224E-5 |
14-96953242-G-A
|
p.Arg661Gln |
missense |
AK7 |
1 |
80946 |
1.23539E-5 |
40473 |
0 |
0.00100705 |
14-96953278-T-C
|
p.Leu673Pro |
missense |
AK7 |
127 |
81022 |
0.00156748 |
40511 |
0 |
0.00167694 |
14-96953282-G-T
|
p.Glu674Asp |
missense |
AK7 |
1 |
81020 |
1.23426E-5 |
40510 |
0 |
NA |
14-96953284-C-T
|
p.Ala675Val |
missense |
AK7 |
7 |
81024 |
8.63942E-5 |
40512 |
0 |
3.30278E-5 |
14-96953314-T-A
|
p.Met685Lys |
missense |
AK7 |
2 |
81052 |
2.46755E-5 |
40526 |
0 |
3.97655E-6 |
14-96953316-A-C
|
p.Thr686Pro |
missense |
AK7 |
1 |
81054 |
1.23375E-5 |
40527 |
0 |
NA |
14-96953318-C-T
|
p.Thr686Thr |
synonymous |
AK7 |
3 |
81054 |
3.70124E-5 |
40527 |
0 |
9.146E-5 |
14-96953330-A-G
|
p.Pro690Pro |
synonymous |
AK7 |
1 |
81062 |
1.23362E-5 |
40531 |
0 |
5.76853E-5 |
14-96953335-T-G
|
p.Leu692Arg |
missense |
AK7 |
6 |
81058 |
7.40211E-5 |
40529 |
0 |
8.24131E-6 |
14-96953344-G-A
|
p.Gly695Asp |
missense |
AK7 |
2 |
81052 |
2.46755E-5 |
40526 |
0 |
NA |
14-96953351-T-A
|
p.Asn697Lys |
missense |
AK7 |
3 |
81052 |
3.70133E-5 |
40526 |
0 |
1.64823E-5 |
14-96953355-T-C
|
p.Cys699Arg |
missense |
AK7 |
2 |
81052 |
2.46755E-5 |
40526 |
0 |
3.97665E-6 |
14-96953363-C-T
|
p.Asn701Asn |
synonymous |
AK7 |
2 |
81034 |
2.4681E-5 |
40517 |
0 |
3.19264E-5 |
14-96953364-G-A
|
p.Val702Ile |
missense |
AK7 |
35 |
81030 |
4.31939E-4 |
40515 |
0 |
1.94879E-4 |
14-96953367-C-T
|
p.Arg703* |
stop_gained |
AK7 |
1 |
81032 |
1.23408E-5 |
40516 |
0 |
2.47325E-5 |
14-96953368-G-A
|
p.Arg703Gln |
missense |
AK7 |
1 |
81030 |
1.23411E-5 |
40515 |
0 |
NA |
14-96953372-C-T
|
p.Pro704Pro |
synonymous |
AK7 |
1 |
81030 |
1.23411E-5 |
40515 |
0 |
3.9781E-6 |
14-96953398-CAT-C
|
c.2133+6_2133+7delAT |
splice_region |
AK7 |
1 |
80996 |
1.23463E-5 |
40498 |
0 |
3.1998E-5 |
14-96954306-A-C
|
p.Gln136His |
missense |
AK7 |
19 |
12642 |
0.00150293 |
6321 |
0 |
0.00172139 |
14-96954316-C-T
|
p.Leu140Phe |
missense |
AK7 |
2 |
13720 |
1.45773E-4 |
6860 |
0 |
1.59276E-4 |
14-96954318-C-T
|
p.Leu140Leu |
synonymous |
AK7 |
2 |
13926 |
1.43616E-4 |
6963 |
0 |
3.18634E-5 |
14-96954319-G-A
|
p.Gly141Ser |
missense |
AK7 |
1 |
13274 |
7.53352E-5 |
6637 |
0 |
6.37877E-5 |
14-96954320-G-T
|
p.Gly141Val |
missense |
AK7 |
1 |
14258 |
7.01361E-5 |
7129 |
0 |
NA |
14-96954334-C-T
|
p.Pro146Ser |
missense |
AK7 |
2 |
15878 |
1.2596E-4 |
7939 |
0 |
NA |
14-96954342-C-T
|
p.Pro148Pro |
synonymous |
AK7 |
1 |
16678 |
5.99592E-5 |
8339 |
0 |
5.48149E-5 |
14-96954342-C-G
|
p.Pro148Pro |
synonymous |
AK7 |
1 |
16678 |
5.99592E-5 |
8339 |
0 |
1.0963E-5 |
14-96954640-A-G
|
c.2134-2A>G |
splice_acceptor |
AK7 |
1 |
80350 |
1.24456E-5 |
40175 |
0 |
3.98594E-6 |
14-96954651-CTCT-C
|
p.Phe716del |
conservative_inframe_deletion |
AK7 |
5 |
80434 |
6.21628E-5 |
40217 |
0 |
6.36943E-5 |
14-96954654-T-C
|
p.Phe716Leu |
missense |
AK7 |
1 |
80462 |
1.24282E-5 |
40231 |
0 |
2.22942E-4 |
14-96954667-C-T
|
p.Pro720Leu |
missense |
AK7 |
1 |
80452 |
1.24298E-5 |
40226 |
0 |
3.98121E-6 |
14-96954674-A-G
|
p.Ala722Ala |
synonymous |
AK7 |
1 |
80432 |
1.24329E-5 |
40216 |
0 |
6.3674E-5 |
14-96954676-A-G
|
p.Gln723Arg |
missense |
AK7 |
1 |
80416 |
1.24353E-5 |
40208 |
0 |
8.25491E-6 |