1-4715217-C-T
|
c.-269C>T |
5_prime_UTR_premature_start_codon_gain |
AJAP1 |
1 |
5558 |
1.79921E-4 |
2779 |
0 |
7.50356E-5 |
1-4715458-C-T
|
c.-28C>T |
5_prime_UTR_premature_start_codon_gain |
AJAP1 |
30 |
40636 |
7.38262E-4 |
20318 |
0 |
0.00625782 |
1-4715480-G-T
|
c.-6G>T |
5_prime_UTR_premature_start_codon_gain |
AJAP1 |
1 |
41314 |
2.42049E-5 |
20657 |
0 |
NA |
1-4715489-T-C
|
p.Trp2Arg |
missense |
AJAP1 |
1 |
41330 |
2.41955E-5 |
20665 |
0 |
NA |
1-4771952-C-T
|
c.30-8C>T |
splice_region |
AJAP1 |
9 |
57428 |
1.56718E-4 |
28714 |
0 |
1.63048E-4 |
1-4771952-C-G
|
c.30-8C>G |
splice_region |
AJAP1 |
8 |
57428 |
1.39305E-4 |
28714 |
0 |
4.89143E-4 |
1-4771960-C-T
|
p.Ser10Ser |
splice_region+synonymous |
AJAP1 |
1 |
58650 |
1.70503E-5 |
29325 |
0 |
NA |
1-4771983-G-A
|
p.Gly18Asp |
missense |
AJAP1 |
2 |
62076 |
3.22186E-5 |
31038 |
0 |
6.6733E-5 |
1-4771986-G-A
|
p.Arg19His |
missense |
AJAP1 |
11 |
62428 |
1.76203E-4 |
31214 |
0 |
4.47885E-4 |
1-4771988-C-G
|
p.Pro20Ala |
missense |
AJAP1 |
5 |
63528 |
7.87055E-5 |
31764 |
0 |
3.10939E-4 |
1-4772003-G-C
|
p.Ala25Pro |
missense |
AJAP1 |
1 |
65192 |
1.53393E-5 |
32596 |
0 |
NA |
1-4772003-G-A
|
p.Ala25Thr |
missense |
AJAP1 |
1 |
65192 |
1.53393E-5 |
32596 |
0 |
9.2483E-6 |
1-4772004-C-T
|
p.Ala25Val |
missense |
AJAP1 |
2 |
65272 |
3.0641E-5 |
32636 |
0 |
NA |
1-4772009-A-T
|
p.Ile27Leu |
missense |
AJAP1 |
1 |
65376 |
1.52961E-5 |
32688 |
0 |
9.88572E-6 |
1-4772029-G-A
|
p.Gln33Gln |
synonymous |
AJAP1 |
1 |
64564 |
1.54885E-5 |
32282 |
0 |
3.19489E-5 |
1-4772032-C-T
|
p.Leu34Leu |
synonymous |
AJAP1 |
1 |
64190 |
1.55788E-5 |
32095 |
0 |
4.72688E-6 |
1-4772033-G-A
|
p.Ala35Thr |
missense |
AJAP1 |
1 |
63618 |
1.57188E-5 |
31809 |
0 |
9.3733E-6 |
1-4772034-C-T
|
p.Ala35Val |
missense |
AJAP1 |
165 |
63728 |
0.00258913 |
31864 |
1 |
0.0103306 |
1-4772035-C-A
|
p.Ala35Ala |
synonymous |
AJAP1 |
1 |
63476 |
1.5754E-5 |
31738 |
0 |
8.875E-6 |
1-4772036-G-T
|
p.Val36Leu |
missense |
AJAP1 |
3 |
63512 |
4.72352E-5 |
31756 |
0 |
2.65694E-5 |
1-4772042-C-T
|
p.Leu38Leu |
synonymous |
AJAP1 |
2 |
63148 |
3.16716E-5 |
31574 |
0 |
1.76407E-5 |
1-4772047-C-T
|
p.Pro39Pro |
synonymous |
AJAP1 |
2 |
62998 |
3.1747E-5 |
31499 |
0 |
3.51451E-5 |
1-4772047-C-G
|
p.Pro39Pro |
synonymous |
AJAP1 |
2 |
62998 |
3.1747E-5 |
31499 |
0 |
NA |
1-4772049-C-T
|
p.Ala40Val |
missense |
AJAP1 |
1 |
62830 |
1.5916E-5 |
31415 |
0 |
8.79507E-6 |
1-4772050-C-A
|
p.Ala40Ala |
synonymous |
AJAP1 |
128 |
62846 |
0.00203672 |
31423 |
2 |
0.0156446 |
1-4772053-T-C
|
p.Cys41Cys |
synonymous |
AJAP1 |
24087 |
60904 |
0.395491 |
30452 |
5304 |
0.461648 |
1-4772056-G-A
|
p.Glu42Glu |
synonymous |
AJAP1 |
1 |
62258 |
1.60622E-5 |
31129 |
0 |
NA |
1-4772060-C-T
|
p.Leu44Leu |
synonymous |
AJAP1 |
21 |
61682 |
3.40456E-4 |
30841 |
1 |
0.00111807 |
1-4772073-C-A
|
p.Pro48Gln |
missense |
AJAP1 |
2 |
59668 |
3.35188E-5 |
29834 |
0 |
NA |
1-4772074-G-A
|
p.Pro48Pro |
synonymous |
AJAP1 |
1 |
59656 |
1.67628E-5 |
29828 |
0 |
1.80541E-5 |
1-4772093-C-T
|
p.Arg55Trp |
missense |
AJAP1 |
5 |
56214 |
8.89458E-5 |
28107 |
0 |
6.37383E-5 |
1-4772097-CGCCGCCCCG-C
|
p.Pro60_Arg62del |
disruptive_inframe_deletion |
AJAP1 |
1 |
55216 |
1.81107E-5 |
27608 |
0 |
9.18729E-6 |
1-4772097-C-CGCCGCCCCG
|
p.Pro60_Arg62dup |
disruptive_inframe_insertion |
AJAP1 |
4 |
55216 |
7.24428E-5 |
27608 |
0 |
9.58834E-5 |
1-4772101-G-A
|
p.Pro57Pro |
synonymous |
AJAP1 |
2 |
54432 |
3.67431E-5 |
27216 |
0 |
1.27918E-4 |
1-4772109-C-T
|
p.Pro60Leu |
missense |
AJAP1 |
1 |
53756 |
1.86026E-5 |
26878 |
0 |
1.44797E-5 |
1-4772111-C-T
|
p.Pro61Ser |
missense |
AJAP1 |
2 |
53318 |
3.75108E-5 |
26659 |
0 |
1.94886E-5 |
1-4772113-C-T
|
p.Pro61Pro |
synonymous |
AJAP1 |
2 |
53484 |
3.73944E-5 |
26742 |
0 |
9.77135E-6 |
1-4772125-T-G
|
p.Ser65Arg |
missense |
AJAP1 |
1 |
52072 |
1.92042E-5 |
26036 |
0 |
NA |
1-4772147-C-T
|
p.Arg73Trp |
missense |
AJAP1 |
1 |
50460 |
1.98177E-5 |
25230 |
0 |
5.48878E-6 |
1-4772151-TCC-ACA
|
p.ValPro74AspThr |
missense |
AJAP1 |
1 |
50156 |
1.99378E-5 |
25078 |
0 |
NA |
1-4772154-C-T
|
p.Pro75Leu |
missense |
AJAP1 |
8 |
50088 |
1.59719E-4 |
25044 |
0 |
7.0743E-5 |
1-4772176-G-A
|
p.Arg82Arg |
synonymous |
AJAP1 |
1 |
49596 |
2.01629E-5 |
24798 |
0 |
3.22493E-5 |
1-4772194-G-T
|
p.Arg88Arg |
synonymous |
AJAP1 |
2 |
51156 |
3.90961E-5 |
25578 |
0 |
3.70083E-5 |
1-4772201-G-A
|
p.Gly91Arg |
missense |
AJAP1 |
2 |
51826 |
3.85907E-5 |
25913 |
0 |
1.90317E-5 |
1-4772220-G-A
|
p.Arg97Gln |
missense |
AJAP1 |
1 |
54056 |
1.84993E-5 |
27028 |
0 |
2.32899E-5 |
1-4772223-C-T
|
p.Ala98Val |
missense |
AJAP1 |
1 |
54630 |
1.8305E-5 |
27315 |
0 |
2.10695E-5 |
1-4772233-C-T
|
p.Ala101Ala |
synonymous |
AJAP1 |
1 |
56406 |
1.77286E-5 |
28203 |
0 |
NA |
1-4772253-C-G
|
p.Ala108Gly |
missense |
AJAP1 |
1 |
58774 |
1.70143E-5 |
29387 |
0 |
NA |
1-4772268-C-T
|
p.Pro113Leu |
missense |
AJAP1 |
1 |
63948 |
1.56377E-5 |
31974 |
0 |
5.60406E-6 |
1-4772280-T-C
|
p.Leu117Pro |
missense |
AJAP1 |
1 |
65904 |
1.51736E-5 |
32952 |
0 |
NA |
1-4772283-C-A
|
p.Ala118Asp |
missense |
AJAP1 |
1 |
66026 |
1.51455E-5 |
33013 |
0 |
3.19E-5 |
1-4772283-C-T
|
p.Ala118Val |
missense |
AJAP1 |
1 |
66026 |
1.51455E-5 |
33013 |
0 |
NA |
1-4772284-C-A
|
p.Ala118Ala |
synonymous |
AJAP1 |
3 |
66440 |
4.51535E-5 |
33220 |
0 |
NA |
1-4772291-C-T
|
p.Pro121Ser |
missense |
AJAP1 |
2 |
67934 |
2.94403E-5 |
33967 |
0 |
3.18898E-5 |
1-4772297-G-A
|
p.Ala123Thr |
missense |
AJAP1 |
25 |
69148 |
3.61543E-4 |
34574 |
0 |
4.1462E-4 |
1-4772318-C-T
|
p.Leu130Phe |
missense |
AJAP1 |
1 |
73486 |
1.3608E-5 |
36743 |
0 |
3.19101E-5 |
1-4772323-CTCTTCG-C
|
p.Ser133_Ser134del |
disruptive_inframe_deletion |
AJAP1 |
1 |
74304 |
1.34582E-5 |
37152 |
0 |
NA |
1-4772326-TTCGTCC-T
|
p.Ser138_Ser139del |
disruptive_inframe_deletion |
AJAP1 |
3 |
74662 |
4.01811E-5 |
37331 |
0 |
6.3857E-5 |
1-4772326-T-TTCGTCC
|
p.Ser138_Ser139dup |
disruptive_inframe_insertion |
AJAP1 |
2 |
74666 |
2.6786E-5 |
37333 |
0 |
2.19144E-5 |
1-4772328-C-T
|
p.Ser133Leu |
missense |
AJAP1 |
3 |
74756 |
4.01306E-5 |
37378 |
0 |
2.53794E-5 |
1-4772332-C-T
|
p.Ser134Ser |
synonymous |
AJAP1 |
1 |
75320 |
1.32767E-5 |
37660 |
0 |
NA |
1-4772332-C-G
|
p.Ser134Ser |
synonymous |
AJAP1 |
1 |
75320 |
1.32767E-5 |
37660 |
0 |
NA |
1-4772341-G-A
|
p.Ser137Ser |
synonymous |
AJAP1 |
3 |
75850 |
3.95517E-5 |
37925 |
0 |
3.19326E-5 |
1-4772341-G-T
|
p.Ser137Ser |
synonymous |
AJAP1 |
1 |
75852 |
1.31836E-5 |
37926 |
0 |
NA |
1-4772347-C-T
|
p.Ser139Ser |
synonymous |
AJAP1 |
11 |
76312 |
1.44145E-4 |
38156 |
0 |
9.57977E-5 |
1-4772348-G-A
|
p.Ala140Thr |
missense |
AJAP1 |
1 |
76152 |
1.31316E-5 |
38076 |
0 |
NA |
1-4772349-C-T
|
p.Ala140Val |
missense |
AJAP1 |
3 |
76364 |
3.92855E-5 |
38182 |
0 |
9.63453E-5 |
1-4772355-C-T
|
p.Ala142Val |
missense |
AJAP1 |
1 |
76426 |
1.30846E-5 |
38213 |
0 |
6.94782E-5 |
1-4772356-C-T
|
p.Ala142Ala |
synonymous |
AJAP1 |
1 |
76452 |
1.30801E-5 |
38226 |
0 |
8.19968E-6 |
1-4772357-G-A
|
p.Gly143Ser |
missense |
AJAP1 |
1 |
76362 |
1.30955E-5 |
38181 |
0 |
8.25587E-6 |
1-4772368-G-A
|
p.Pro146Pro |
synonymous |
AJAP1 |
2 |
76566 |
2.61213E-5 |
38283 |
0 |
NA |
1-4772374-G-A
|
p.Gln148Gln |
synonymous |
AJAP1 |
1 |
76754 |
1.30286E-5 |
38377 |
0 |
NA |
1-4772380-C-G
|
p.Ala150Ala |
synonymous |
AJAP1 |
10 |
76620 |
1.30514E-4 |
38310 |
0 |
0.0020284 |
1-4772388-G-T
|
p.Arg153Met |
missense |
AJAP1 |
1 |
76552 |
1.3063E-5 |
38276 |
0 |
4.90773E-5 |
1-4772390-AG-A
|
p.Gly155fs |
frameshift |
AJAP1 |
1 |
76384 |
1.30917E-5 |
38192 |
0 |
NA |
1-4772390-A-C
|
p.Arg154Arg |
synonymous |
AJAP1 |
1 |
76384 |
1.30917E-5 |
38192 |
0 |
NA |
1-4772412-G-A
|
p.Gly161Glu |
missense |
AJAP1 |
1 |
76628 |
1.30501E-5 |
38314 |
0 |
4.94609E-5 |
1-4772416-C-T
|
p.Asp162Asp |
synonymous |
AJAP1 |
21 |
76370 |
2.74977E-4 |
38185 |
0 |
0.00153061 |
1-4772431-C-A
|
p.Phe167Leu |
missense |
AJAP1 |
3 |
76888 |
3.90178E-5 |
38444 |
0 |
NA |
1-4772432-G-A
|
p.Asp168Asn |
missense |
AJAP1 |
1 |
76868 |
1.30093E-5 |
38434 |
0 |
NA |
1-4772434-C-T
|
p.Asp168Asp |
synonymous |
AJAP1 |
3 |
77058 |
3.89317E-5 |
38529 |
0 |
5.96161E-6 |
1-4772438-A-C
|
p.Arg170Arg |
synonymous |
AJAP1 |
4 |
77124 |
5.18645E-5 |
38562 |
0 |
7.28014E-5 |
1-4772447-C-T
|
p.Arg173Trp |
missense |
AJAP1 |
4 |
77228 |
5.17947E-5 |
38614 |
0 |
6.46194E-4 |
1-4772455-C-G
|
p.Thr175Thr |
synonymous |
AJAP1 |
1 |
77562 |
1.28929E-5 |
38781 |
0 |
NA |
1-4772462-A-T
|
p.Thr178Ser |
missense |
AJAP1 |
279 |
77740 |
0.00358889 |
38870 |
3 |
0.0079218 |
1-4772464-T-A
|
p.Thr178Thr |
synonymous |
AJAP1 |
1 |
77860 |
1.28436E-5 |
38930 |
0 |
2.05558E-5 |
1-4772467-G-T
|
p.Glu179Asp |
missense |
AJAP1 |
4 |
77926 |
5.13307E-5 |
38963 |
0 |
NA |
1-4772482-G-A
|
p.Gly184Gly |
synonymous |
AJAP1 |
1 |
78258 |
1.27782E-5 |
39129 |
0 |
4.71387E-5 |
1-4772490-G-A
|
p.Gly187Glu |
missense |
AJAP1 |
1 |
78368 |
1.27603E-5 |
39184 |
0 |
4.30037E-6 |
1-4772509-G-A
|
p.Glu193Glu |
synonymous |
AJAP1 |
8 |
78748 |
1.0159E-4 |
39374 |
0 |
9.5706E-5 |
1-4772513-A-G
|
p.Asn195Asp |
missense |
AJAP1 |
2 |
78746 |
2.53981E-5 |
39373 |
0 |
2.22504E-5 |
1-4772524-G-A
|
p.Pro198Pro |
synonymous |
AJAP1 |
3 |
78756 |
3.80923E-5 |
39378 |
0 |
6.38529E-5 |
1-4772527-C-A
|
p.Gly199Gly |
synonymous |
AJAP1 |
3 |
78742 |
3.80991E-5 |
39371 |
0 |
3.19203E-5 |
1-4772527-C-T
|
p.Gly199Gly |
synonymous |
AJAP1 |
3 |
78742 |
3.80991E-5 |
39371 |
0 |
NA |
1-4772533-C-T
|
p.Tyr201Tyr |
synonymous |
AJAP1 |
1 |
78798 |
1.26907E-5 |
39399 |
0 |
2.07693E-5 |
1-4772534-G-A
|
p.Gly202Ser |
missense |
AJAP1 |
1 |
78752 |
1.26981E-5 |
39376 |
0 |
2.06832E-5 |
1-4772535-G-A
|
p.Gly202Asp |
missense |
AJAP1 |
241 |
78754 |
0.00306016 |
39377 |
3 |
0.00715573 |
1-4772539-C-T
|
p.Pro203Pro |
synonymous |
AJAP1 |
1 |
78878 |
1.26778E-5 |
39439 |
0 |
1.2357E-5 |
1-4772556-T-C
|
p.Leu209Pro |
missense |
AJAP1 |
1 |
79064 |
1.2648E-5 |
39532 |
0 |
NA |
1-4772557-A-G
|
p.Leu209Leu |
synonymous |
AJAP1 |
1 |
79064 |
1.2648E-5 |
39532 |
0 |
NA |
1-4772564-C-T
|
p.Arg212Trp |
missense |
AJAP1 |
1 |
79046 |
1.26509E-5 |
39523 |
0 |
3.18817E-5 |
1-4772566-G-A
|
p.Arg212Arg |
synonymous |
AJAP1 |
2 |
79056 |
2.52985E-5 |
39528 |
0 |
NA |
1-4772567-A-G
|
p.Lys213Glu |
missense |
AJAP1 |
15 |
79068 |
1.8971E-4 |
39534 |
0 |
0.00302419 |
1-4772581-C-T
|
p.Ala217Ala |
synonymous |
AJAP1 |
2 |
78892 |
2.53511E-5 |
39446 |
0 |
2.87144E-5 |
1-4772582-GCCA-G
|
p.Thr225del |
disruptive_inframe_deletion |
AJAP1 |
52 |
75420 |
6.89472E-4 |
37710 |
0 |
0.026431 |
1-4772582-G-GCCA
|
p.Thr225dup |
disruptive_inframe_insertion |
AJAP1 |
245 |
78838 |
0.00310764 |
39419 |
0 |
0.00373447 |
1-4772582-G-A
|
p.Ala218Thr |
missense |
AJAP1 |
1 |
78848 |
1.26826E-5 |
39424 |
0 |
NA |
1-4772582-GCCACCA-G
|
p.Thr224_Thr225del |
disruptive_inframe_deletion |
AJAP1 |
10 |
78850 |
1.26823E-4 |
39425 |
0 |
1.07312E-4 |
1-4772582-GCCACCACCA-G
|
p.Thr223_Thr225del |
disruptive_inframe_deletion |
AJAP1 |
1 |
78850 |
1.26823E-5 |
39425 |
0 |
1.60968E-4 |
1-4772582-G-GCCACCA
|
p.Thr224_Thr225dup |
disruptive_inframe_insertion |
AJAP1 |
1 |
78850 |
1.26823E-5 |
39425 |
0 |
9.6581E-5 |
1-4772585-A-G
|
p.Thr219Ala |
missense |
AJAP1 |
49 |
78828 |
6.21607E-4 |
39414 |
0 |
0.00201613 |
1-4772587-C-T
|
p.Thr219Thr |
synonymous |
AJAP1 |
1 |
78956 |
1.26653E-5 |
39478 |
0 |
8.20789E-6 |
1-4772593-C-T
|
p.Thr221Thr |
synonymous |
AJAP1 |
1 |
78954 |
1.26656E-5 |
39477 |
0 |
1.22255E-5 |
1-4772618-A-G
|
p.Thr230Ala |
missense |
AJAP1 |
2 |
78792 |
2.53833E-5 |
39396 |
0 |
4.23937E-5 |
1-4772619-C-T
|
p.Thr230Met |
missense |
AJAP1 |
2 |
78816 |
2.53756E-5 |
39408 |
0 |
1.27445E-4 |
1-4772626-G-A
|
p.Gln232Gln |
synonymous |
AJAP1 |
2 |
78752 |
2.53962E-5 |
39376 |
0 |
8.42588E-6 |
1-4772635-G-A
|
p.Gly235Gly |
synonymous |
AJAP1 |
1 |
78590 |
1.27243E-5 |
39295 |
0 |
1.68155E-5 |
1-4772635-G-T
|
p.Gly235Gly |
synonymous |
AJAP1 |
1 |
78590 |
1.27243E-5 |
39295 |
0 |
8.15707E-6 |
1-4772642-G-A
|
p.Glu238Lys |
missense |
AJAP1 |
1 |
78488 |
1.27408E-5 |
39244 |
0 |
3.36236E-5 |
1-4772648-T-C
|
p.Leu240Leu |
synonymous |
AJAP1 |
4 |
78428 |
5.10022E-5 |
39214 |
0 |
1.68251E-5 |
1-4772654-C-A
|
p.Pro242Thr |
missense |
AJAP1 |
1 |
78298 |
1.27717E-5 |
39149 |
0 |
NA |
1-4772658-G-A
|
p.Arg243Gln |
missense |
AJAP1 |
8 |
78248 |
1.02239E-4 |
39124 |
0 |
5.07614E-4 |
1-4772665-G-T
|
p.Arg245Ser |
missense |
AJAP1 |
1 |
78160 |
1.27943E-5 |
39080 |
0 |
NA |
1-4772668-C-T
|
p.Ile246Ile |
synonymous |
AJAP1 |
1 |
78116 |
1.28015E-5 |
39058 |
0 |
NA |
1-4772669-C-T
|
p.Pro247Ser |
missense |
AJAP1 |
1 |
78114 |
1.28018E-5 |
39057 |
0 |
NA |
1-4772686-A-G
|
p.Thr252Thr |
synonymous |
AJAP1 |
1 |
77848 |
1.28455E-5 |
38924 |
0 |
NA |
1-4772688-C-A
|
p.Thr253Lys |
missense |
AJAP1 |
1 |
77842 |
1.28465E-5 |
38921 |
0 |
6.37592E-5 |
1-4772689-G-A
|
p.Thr253Thr |
synonymous |
AJAP1 |
1 |
77822 |
1.28498E-5 |
38911 |
0 |
NA |
1-4772693-C-A
|
p.Pro255Thr |
missense |
AJAP1 |
4 |
77754 |
5.14443E-5 |
38877 |
0 |
3.66697E-5 |
1-4772700-C-T
|
p.Thr257Ile |
missense |
AJAP1 |
5 |
77634 |
6.44048E-5 |
38817 |
0 |
3.20271E-4 |
1-4772703-G-C
|
p.Ser258Thr |
missense |
AJAP1 |
1 |
77564 |
1.28926E-5 |
38782 |
0 |
1.93512E-5 |
1-4772716-C-T
|
p.Asn262Asn |
synonymous |
AJAP1 |
803 |
77450 |
0.010368 |
38725 |
33 |
0.0232762 |
1-4772716-C-A
|
p.Asn262Lys |
missense |
AJAP1 |
1 |
77498 |
1.29036E-5 |
38749 |
0 |
NA |
1-4772717-G-A
|
p.Gly263Arg |
missense |
AJAP1 |
41282 |
74530 |
0.553898 |
37265 |
12203 |
0.603909 |
1-4772718-G-T
|
p.Gly263Val |
missense |
AJAP1 |
1 |
77470 |
1.29082E-5 |
38735 |
0 |
NA |
1-4772734-C-T
|
p.Pro268Pro |
synonymous |
AJAP1 |
2 |
77350 |
2.58565E-5 |
38675 |
0 |
3.66535E-5 |
1-4772734-C-G
|
p.Pro268Pro |
synonymous |
AJAP1 |
1 |
77350 |
1.29282E-5 |
38675 |
0 |
NA |
1-4772735-C-T
|
p.Pro269Ser |
missense |
AJAP1 |
1 |
77310 |
1.29349E-5 |
38655 |
0 |
NA |
1-4772744-C-T
|
p.Leu272Leu |
synonymous |
AJAP1 |
1 |
77352 |
1.29279E-5 |
38676 |
0 |
NA |
1-4772750-G-T
|
p.Glu274* |
stop_gained |
AJAP1 |
1 |
77436 |
1.29139E-5 |
38718 |
0 |
NA |
1-4829909-C-T
|
c.830-4C>T |
splice_region |
AJAP1 |
1 |
80614 |
1.24048E-5 |
40307 |
0 |
8.23683E-6 |
1-4829944-C-T
|
p.Thr287Thr |
synonymous |
AJAP1 |
2 |
80844 |
2.4739E-5 |
40422 |
0 |
2.47093E-5 |
1-4829963-A-G
|
p.Ile294Val |
missense |
AJAP1 |
67 |
80830 |
8.289E-4 |
40415 |
0 |
7.65987E-4 |
1-4832333-C-T
|
c.918-7C>T |
splice_region |
AJAP1 |
4 |
79198 |
5.05063E-5 |
39599 |
0 |
8.29366E-6 |
1-4832344-G-A
|
p.Ala308Thr |
missense |
AJAP1 |
1 |
79290 |
1.26119E-5 |
39645 |
0 |
NA |
1-4832355-G-A
|
p.Gly311Gly |
synonymous |
AJAP1 |
1 |
79584 |
1.25653E-5 |
39792 |
0 |
NA |
1-4832359-A-T
|
p.Thr313Ser |
missense |
AJAP1 |
1 |
79672 |
1.25515E-5 |
39836 |
0 |
2.00141E-5 |
1-4832363-G-A
|
p.Arg314His |
missense |
AJAP1 |
3 |
79704 |
3.76393E-5 |
39852 |
0 |
1.65213E-5 |
1-4832363-G-C
|
p.Arg314Pro |
missense |
AJAP1 |
2 |
79704 |
2.50928E-5 |
39852 |
0 |
3.18695E-5 |
1-4832366-G-A
|
p.Arg315Gln |
missense |
AJAP1 |
3 |
79774 |
3.76062E-5 |
39887 |
0 |
6.39923E-5 |
1-4832369-A-G
|
p.Asn316Ser |
missense |
AJAP1 |
5 |
79880 |
6.25939E-5 |
39940 |
0 |
1.65104E-5 |
1-4832370-C-T
|
p.Asn316Asn |
synonymous |
AJAP1 |
1 |
79874 |
1.25197E-5 |
39937 |
0 |
1.19899E-5 |
1-4832381-G-A
|
p.Arg320Gln |
missense |
AJAP1 |
15 |
80180 |
1.87079E-4 |
40090 |
0 |
3.29979E-5 |
1-4832404-A-G
|
p.Ser328Gly |
missense |
AJAP1 |
3 |
80512 |
3.72615E-5 |
40256 |
0 |
NA |
1-4832415-C-T
|
p.Asn331Asn |
synonymous |
AJAP1 |
2 |
80648 |
2.47991E-5 |
40324 |
0 |
1.64897E-5 |
1-4832421-G-A
|
p.Thr333Thr |
synonymous |
AJAP1 |
4 |
80660 |
4.95909E-5 |
40330 |
0 |
2.38787E-5 |
1-4832421-G-C
|
p.Thr333Thr |
synonymous |
AJAP1 |
1 |
80660 |
1.23977E-5 |
40330 |
0 |
NA |
1-4832432-C-T
|
p.Ser337Leu |
missense |
AJAP1 |
1 |
80732 |
1.23867E-5 |
40366 |
0 |
NA |
1-4832433-G-A
|
p.Ser337Ser |
synonymous |
AJAP1 |
9 |
80734 |
1.11477E-4 |
40367 |
0 |
6.3674E-5 |
1-4832437-C-T
|
p.Arg339Trp |
missense |
AJAP1 |
2 |
80778 |
2.47592E-5 |
40389 |
0 |
8.24429E-6 |
1-4832438-G-A
|
p.Arg339Gln |
missense |
AJAP1 |
1 |
80784 |
1.23787E-5 |
40392 |
0 |
5.03525E-4 |
1-4832445-C-T
|
p.Pro341Pro |
synonymous |
AJAP1 |
4 |
80822 |
4.94915E-5 |
40411 |
0 |
3.58018E-5 |
1-4832466-G-A
|
p.Thr348Thr |
synonymous |
AJAP1 |
6 |
80912 |
7.41546E-5 |
40456 |
0 |
2.38656E-5 |
1-4832470-T-C
|
p.Tyr350His |
missense |
AJAP1 |
1 |
80928 |
1.23567E-5 |
40464 |
0 |
NA |
1-4832475-C-T
|
p.Asn351Asn |
synonymous |
AJAP1 |
1 |
80920 |
1.23579E-5 |
40460 |
0 |
4.94535E-5 |
1-4832476-G-A
|
p.Glu352Lys |
missense |
AJAP1 |
1 |
80918 |
1.23582E-5 |
40459 |
0 |
3.9776E-6 |
1-4832482-C-T
|
p.Leu354Leu |
synonymous |
AJAP1 |
21 |
80934 |
2.59471E-4 |
40467 |
0 |
8.59818E-4 |
1-4832486-A-G
|
p.Gln355Arg |
missense |
AJAP1 |
5 |
80956 |
6.17619E-5 |
40478 |
1 |
2.78401E-5 |
1-4832497-G-A
|
p.Glu359Lys |
missense |
AJAP1 |
1 |
80952 |
1.2353E-5 |
40476 |
0 |
3.97735E-6 |
1-4832502-C-T
|
p.Cys360Cys |
synonymous |
AJAP1 |
3 |
80952 |
3.7059E-5 |
40476 |
0 |
2.78423E-5 |
1-4832503-G-A
|
p.Val361Ile |
missense |
AJAP1 |
1 |
80960 |
1.23518E-5 |
40480 |
0 |
6.25E-4 |
1-4832519-C-T
|
p.Pro366Leu |
missense |
AJAP1 |
1 |
80954 |
1.23527E-5 |
40477 |
0 |
NA |
1-4832520-C-T
|
p.Pro366Pro |
synonymous |
AJAP1 |
6 |
80954 |
7.41162E-5 |
40477 |
0 |
1.2734E-4 |
1-4832521-G-A
|
p.Val367Met |
missense |
AJAP1 |
14 |
80952 |
1.72942E-4 |
40476 |
0 |
1.59215E-4 |
1-4832522-T-G
|
p.Val367Gly |
missense |
AJAP1 |
1 |
80936 |
1.23554E-5 |
40468 |
0 |
NA |
1-4832529-C-T
|
p.Thr369Thr |
synonymous |
AJAP1 |
2 |
80942 |
2.47091E-5 |
40471 |
0 |
1.65101E-5 |
1-4832532-T-C
|
p.Asp370Asp |
synonymous |
AJAP1 |
7 |
80940 |
8.64838E-5 |
40470 |
0 |
9.55231E-5 |
1-4832538-G-A
|
p.Thr372Thr |
synonymous |
AJAP1 |
1 |
80918 |
1.23582E-5 |
40459 |
0 |
3.18451E-5 |
1-4832539-C-T
|
p.Leu373Leu |
synonymous |
AJAP1 |
1 |
80922 |
1.23576E-5 |
40461 |
0 |
NA |
1-4832547-G-A
|
p.Ser375Ser |
synonymous |
AJAP1 |
2 |
80892 |
2.47243E-5 |
40446 |
0 |
3.97877E-6 |
1-4832548-A-T
|
p.Thr376Ser |
missense |
AJAP1 |
2 |
80894 |
2.47237E-5 |
40447 |
0 |
7.95646E-6 |
1-4832549-C-T
|
p.Thr376Met |
missense |
AJAP1 |
26 |
80896 |
3.214E-4 |
40448 |
0 |
5.73139E-4 |
1-4832550-G-A
|
p.Thr376Thr |
synonymous |
AJAP1 |
2 |
80884 |
2.47268E-5 |
40442 |
0 |
6.25E-4 |
1-4832552-C-T
|
p.Thr377Met |
missense |
AJAP1 |
10 |
80884 |
1.23634E-4 |
40442 |
0 |
2.22944E-4 |
1-4832553-G-A
|
p.Thr377Thr |
synonymous |
AJAP1 |
3 |
80882 |
3.70911E-5 |
40441 |
0 |
5.79451E-5 |
1-4832569-A-C
|
p.Thr383Pro |
missense |
AJAP1 |
9 |
80766 |
1.11433E-4 |
40383 |
0 |
2.22958E-4 |
1-4832576-A-G
|
p.Asn385Ser |
missense |
AJAP1 |
2 |
80626 |
2.48059E-5 |
40313 |
0 |
2.3897E-5 |
1-4832585-G-A
|
p.Arg388Gln |
missense+splice_region |
AJAP1 |
2 |
80284 |
2.49116E-5 |
40142 |
0 |
NA |
1-4832593-C-T
|
c.1163+8C>T |
splice_region |
AJAP1 |
333 |
80016 |
0.00416167 |
40008 |
3 |
0.00687898 |
1-4834483-G-A
|
c.1164-4G>A |
splice_region |
AJAP1 |
4 |
80960 |
4.94071E-5 |
40480 |
0 |
3.18573E-5 |
1-4834491-T-G
|
p.Ser390Ala |
missense |
AJAP1 |
2 |
80994 |
2.46932E-5 |
40497 |
0 |
8.2371E-6 |
1-4834492-C-CCT
|
p.Ser392fs |
frameshift |
AJAP1 |
1 |
80996 |
1.23463E-5 |
40498 |
0 |
NA |
1-4834505-G-T
|
p.Arg394Arg |
synonymous |
AJAP1 |
2 |
81038 |
2.46798E-5 |
40519 |
0 |
NA |
1-4834507-A-G
|
p.His395Arg |
missense |
AJAP1 |
6 |
81030 |
7.40466E-5 |
40515 |
0 |
1.64737E-5 |
1-4834519-T-C
|
p.Val399Ala |
missense |
AJAP1 |
5 |
81034 |
6.17025E-5 |
40517 |
0 |
4.77152E-5 |
1-4834540-G-C
|
p.Trp406Ser |
missense |
AJAP1 |
1 |
81008 |
1.23445E-5 |
40504 |
0 |
NA |
1-4834617-C-T
|
c.*58C>T |
splice_region |
AJAP1 |
3 |
79834 |
3.7578E-5 |
39917 |
0 |
6.37349E-5 |
1-4834618-G-A
|
c.*59G>A |
splice_region |
AJAP1 |
1 |
79754 |
1.25386E-5 |
39877 |
0 |
NA |
1-4834618-G-C
|
c.*59G>C |
splice_region |
AJAP1 |
1 |
79754 |
1.25386E-5 |
39877 |
0 |
NA |
1-4834625-A-G
|
c.*59+7A>G |
splice_region |
AJAP1 |
2 |
79280 |
2.5227E-5 |
39640 |
0 |
NA |
1-4842598-CA-C
|
c.*60-6delA |
splice_region |
AJAP1 |
12 |
2824 |
0.00424929 |
1412 |
0 |
0.00239006 |