7-128864877-A-T
|
c.-41A>T |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
2 |
75108 |
2.66283E-5 |
37554 |
0 |
2.02648E-4 |
7-128864895-C-T
|
c.-23C>T |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
8 |
75304 |
1.06236E-4 |
37652 |
0 |
6.25782E-4 |
7-128864924-G-C
|
p.Val3Leu |
missense |
AHCYL2 |
1 |
75360 |
1.32696E-5 |
37680 |
0 |
NA |
7-128864928-A-G
|
p.Gln4Arg |
missense |
AHCYL2 |
1 |
75382 |
1.32658E-5 |
37691 |
0 |
2.38243E-5 |
7-128864929-G-A
|
p.Gln4Gln |
synonymous |
AHCYL2 |
1 |
75426 |
1.3258E-5 |
37713 |
0 |
NA |
7-128864931-T-C
|
p.Val5Ala |
missense |
AHCYL2 |
1 |
75394 |
1.32637E-5 |
37697 |
0 |
1.84412E-5 |
7-128864937-C-T
|
p.Ser7Leu |
missense |
AHCYL2 |
1 |
75354 |
1.32707E-5 |
37677 |
0 |
4.61335E-6 |
7-128864940-C-G
|
p.Ala8Gly |
missense |
AHCYL2 |
10 |
75376 |
1.32668E-4 |
37688 |
0 |
0.00102354 |
7-128864941-C-T
|
p.Ala8Ala |
synonymous |
AHCYL2 |
1 |
75354 |
1.32707E-5 |
37677 |
0 |
NA |
7-128864944-G-A
|
p.Ala9Ala |
synonymous |
AHCYL2 |
1 |
75344 |
1.32725E-5 |
37672 |
0 |
9.13476E-6 |
7-128864961-C-G
|
p.Pro15Arg |
missense |
AHCYL2 |
1 |
75308 |
1.32788E-5 |
37654 |
0 |
NA |
7-128864974-G-A
|
p.Leu19Leu |
synonymous |
AHCYL2 |
9 |
75218 |
1.19652E-4 |
37609 |
0 |
NA |
7-128864997-C-A
|
p.Ala27Glu |
missense |
AHCYL2 |
3 |
74832 |
4.00898E-5 |
37416 |
0 |
NA |
7-128864997-C-T
|
p.Ala27Val |
missense |
AHCYL2 |
1 |
74832 |
1.33633E-5 |
37416 |
0 |
1.8761E-5 |
7-128864998-G-A
|
p.Ala27Ala |
synonymous |
AHCYL2 |
1 |
74856 |
1.3359E-5 |
37428 |
0 |
0.00255102 |
7-128865007-A-G
|
p.Gln30Gln |
synonymous |
AHCYL2 |
1 |
74762 |
1.33758E-5 |
37381 |
0 |
1.95274E-5 |
7-128865010-A-G
|
p.Leu31Leu |
synonymous |
AHCYL2 |
1 |
74714 |
1.33844E-5 |
37357 |
0 |
NA |
7-128865015-T-A
|
p.Leu33Gln |
missense |
AHCYL2 |
11 |
74602 |
1.47449E-4 |
37301 |
0 |
5.1282E-4 |
7-128865027-C-T
|
p.Ala37Val |
missense |
AHCYL2 |
1 |
74310 |
1.34571E-5 |
37155 |
0 |
NA |
7-128865033-G-A
|
p.Gly39Asp |
missense |
AHCYL2 |
1 |
74288 |
1.34611E-5 |
37144 |
0 |
NA |
7-128865041-G-GC
|
p.Ala45fs |
frameshift |
AHCYL2 |
2 |
74052 |
2.7008E-5 |
37026 |
0 |
6.1654E-5 |
7-128865042-C-T
|
p.Ala42Val |
missense |
AHCYL2 |
1 |
74068 |
1.35011E-5 |
37034 |
0 |
4.09679E-5 |
7-128865047-C-G
|
p.Pro44Ala |
missense |
AHCYL2 |
1 |
73906 |
1.35307E-5 |
36953 |
0 |
3.25288E-5 |
7-128865047-C-A
|
p.Pro44Thr |
missense |
AHCYL2 |
1 |
73906 |
1.35307E-5 |
36953 |
0 |
NA |
7-128865048-C-A
|
p.Pro44Gln |
missense |
AHCYL2 |
1 |
73796 |
1.35509E-5 |
36898 |
0 |
NA |
7-128865050-G-A
|
p.Ala45Thr |
missense |
AHCYL2 |
2 |
73678 |
2.71451E-5 |
36839 |
0 |
7.30034E-6 |
7-128865064-C-T
|
p.Asp49Asp |
synonymous |
AHCYL2 |
1 |
72998 |
1.3699E-5 |
36499 |
0 |
NA |
7-128865066-C-G
|
p.Pro50Arg |
missense |
AHCYL2 |
2 |
72834 |
2.74597E-5 |
36417 |
0 |
1.91685E-5 |
7-128865080-C-G
|
p.Pro55Ala |
missense |
AHCYL2 |
5 |
71102 |
7.03215E-5 |
35551 |
0 |
3.25945E-5 |
7-128865084-C-A
|
p.Ala56Asp |
missense |
AHCYL2 |
1 |
70442 |
1.41961E-5 |
35221 |
0 |
6.93481E-4 |
7-128865085-C-T
|
p.Ala56Ala |
synonymous |
AHCYL2 |
2 |
70294 |
2.84519E-5 |
35147 |
0 |
1.42183E-5 |
7-128865086-G-T
|
p.Ala57Ser |
missense |
AHCYL2 |
1 |
70138 |
1.42576E-5 |
35069 |
0 |
6.93481E-4 |
7-128865089-G-C
|
p.Glu58Gln |
missense |
AHCYL2 |
2 |
69894 |
2.86148E-5 |
34947 |
0 |
6.90608E-4 |
7-128865095-C-T
|
p.Pro60Ser |
missense |
AHCYL2 |
2 |
69102 |
2.89427E-5 |
34551 |
0 |
0.0011139 |
7-128865098-C-T
|
p.Pro61Ser |
missense |
AHCYL2 |
1 |
68896 |
1.45146E-5 |
34448 |
0 |
1.56755E-5 |
7-128865099-C-T
|
p.Pro61Leu |
missense |
AHCYL2 |
1 |
68594 |
1.45785E-5 |
34297 |
0 |
NA |
7-128865100-G-A
|
p.Pro61Pro |
synonymous |
AHCYL2 |
4 |
68604 |
5.83056E-5 |
34302 |
0 |
NA |
7-128865107-G-T
|
p.Gly64Cys |
missense |
AHCYL2 |
1 |
67892 |
1.47293E-5 |
33946 |
0 |
NA |
7-128865110-C-T
|
p.Pro65Ser |
missense |
AHCYL2 |
5 |
67588 |
7.39776E-5 |
33794 |
0 |
6.53509E-5 |
7-128865112-G-T
|
p.Pro65Pro |
synonymous |
AHCYL2 |
1 |
67514 |
1.48117E-5 |
33757 |
0 |
NA |
7-128865123-C-T
|
p.Pro69Leu |
missense |
AHCYL2 |
1 |
67508 |
1.48131E-5 |
33754 |
0 |
3.25119E-5 |
7-128865130-C-T
|
p.Ala71Ala |
synonymous |
AHCYL2 |
18992 |
66194 |
0.286914 |
33097 |
2647 |
0.34273 |
7-128865140-C-G
|
p.Pro75Ala |
missense |
AHCYL2 |
8 |
67876 |
1.17862E-4 |
33938 |
0 |
6.45494E-5 |
7-128865147-C-T
|
p.Ala77Val |
missense |
AHCYL2 |
39 |
67742 |
5.75714E-4 |
33871 |
0 |
0.00154819 |
7-128865154-G-A
|
p.Lys79Lys |
synonymous |
AHCYL2 |
1 |
68118 |
1.46804E-5 |
34059 |
0 |
9.6637E-5 |
7-128865162-A-C
|
p.Gln82Pro |
missense |
AHCYL2 |
1 |
68582 |
1.45811E-5 |
34291 |
0 |
4.56955E-5 |
7-128865164-G-A
|
p.Ala83Thr |
missense |
AHCYL2 |
31 |
68578 |
4.5204E-4 |
34289 |
0 |
3.21792E-4 |
7-128865172-C-T
|
p.Ala85Ala |
synonymous |
AHCYL2 |
3 |
69340 |
4.32651E-5 |
34670 |
0 |
9.74089E-5 |
7-128865212-C-T
|
p.Arg99Cys |
missense |
AHCYL2 |
3 |
72222 |
4.15386E-5 |
36111 |
0 |
6.40943E-5 |
7-128865227-G-T
|
p.Ala104Ser |
missense |
AHCYL2 |
1 |
73006 |
1.36975E-5 |
36503 |
0 |
NA |
7-128865234-T-G
|
p.Val106Gly |
missense |
AHCYL2 |
1 |
73218 |
1.36578E-5 |
36609 |
0 |
8.67799E-6 |
7-128865244-C-T
|
p.Asp109Asp |
synonymous |
AHCYL2 |
2 |
73494 |
2.72131E-5 |
36747 |
0 |
2.62794E-5 |
7-128865245-G-A
|
p.Gly110Ser |
missense |
AHCYL2 |
1 |
73518 |
1.36021E-5 |
36759 |
0 |
3.19877E-5 |
7-128865250-C-G
|
p.Thr111Thr |
synonymous |
AHCYL2 |
1 |
73570 |
1.35925E-5 |
36785 |
0 |
NA |
7-128865251-G-A
|
p.Val112Ile |
missense |
AHCYL2 |
11 |
73588 |
1.49481E-4 |
36794 |
0 |
0.00593972 |
7-128865259-G-A
|
p.Glu114Glu |
synonymous |
AHCYL2 |
2 |
73704 |
2.71356E-5 |
36852 |
0 |
8.02568E-4 |
7-128923236-C-G
|
p.Leu4Leu |
synonymous |
AHCYL2 |
1 |
8094 |
1.23548E-4 |
4047 |
0 |
3.18573E-5 |
7-128923254-T-A
|
p.Phe10Leu |
missense |
AHCYL2 |
1 |
8092 |
1.23579E-4 |
4046 |
0 |
NA |
7-129008002-C-T
|
c.-334C>T |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
1 |
33646 |
2.97212E-5 |
16823 |
0 |
1.2738E-4 |
7-129008095-C-T
|
c.-241C>T |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
1 |
63326 |
1.57913E-5 |
31663 |
0 |
NA |
7-129008130-C-T
|
c.-206C>T |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
5 |
68112 |
7.34085E-5 |
34056 |
0 |
3.18532E-5 |
7-129008155-T-C
|
c.-181T>C |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
1 |
73774 |
1.35549E-5 |
36887 |
0 |
NA |
7-129008161-A-G
|
c.-175A>G |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
2 |
74862 |
2.67158E-5 |
37431 |
0 |
NA |
7-129008174-T-G
|
c.-162T>G |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
1 |
76282 |
1.31093E-5 |
38141 |
0 |
NA |
7-129008179-C-T
|
c.-157C>T |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
2 |
76810 |
2.60383E-5 |
38405 |
0 |
1.59307E-4 |
7-129008229-C-T
|
c.-107C>T |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
1 |
79140 |
1.26358E-5 |
39570 |
0 |
NA |
7-129008302-T-C
|
c.-34T>C |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
1 |
80282 |
1.24561E-5 |
40141 |
0 |
NA |
7-129008350-C-T
|
p.Asp5Asp |
synonymous |
AHCYL2 |
5 |
80296 |
6.22696E-5 |
40148 |
0 |
6.83071E-5 |
7-129008350-C-A
|
p.Asp5Glu |
missense |
AHCYL2 |
1 |
80296 |
1.24539E-5 |
40148 |
0 |
NA |
7-129008351-G-A
|
p.Gly6Ser |
missense |
AHCYL2 |
4 |
80296 |
4.98157E-5 |
40148 |
0 |
6.25E-4 |
7-129008369-G-C
|
p.Ala12Pro |
missense |
AHCYL2 |
8 |
80294 |
9.96338E-5 |
40147 |
0 |
5.03525E-4 |
7-129008370-C-G
|
p.Ala12Gly |
missense |
AHCYL2 |
1 |
80294 |
1.24542E-5 |
40147 |
0 |
8.03568E-6 |
7-129008375-C-G
|
p.His14Asp |
missense |
AHCYL2 |
1 |
80294 |
1.24542E-5 |
40147 |
0 |
8.31421E-6 |
7-129008380-G-A
|
p.Met15Ile |
missense |
AHCYL2 |
1 |
80292 |
1.24545E-5 |
40146 |
0 |
8.31449E-6 |
7-129008387-T-G
|
p.Trp18Gly |
missense |
AHCYL2 |
1 |
80284 |
1.24558E-5 |
40142 |
0 |
8.31463E-6 |
7-129008388-G-A
|
p.Trp18* |
stop_gained |
AHCYL2 |
1 |
80284 |
1.24558E-5 |
40142 |
0 |
6.36943E-5 |
7-129015519-A-G
|
c.-192A>G |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
1 |
57352 |
1.74362E-5 |
28676 |
0 |
3.18451E-5 |
7-129015691-G-A
|
c.-20G>A |
5_prime_UTR_premature_start_codon_gain |
AHCYL2 |
26 |
74540 |
3.48806E-4 |
37270 |
0 |
2.86606E-4 |
7-129015716-G-A
|
p.Leu2Leu |
synonymous |
AHCYL2 |
1 |
74624 |
1.34005E-5 |
37312 |
0 |
3.18471E-5 |
7-129015720-A-C
|
p.Ser4Arg |
missense |
AHCYL2 |
3 |
74624 |
4.02015E-5 |
37312 |
0 |
5.20191E-5 |
7-129015724-A-G
|
p.Lys5Arg |
missense |
AHCYL2 |
1 |
74634 |
1.33987E-5 |
37317 |
0 |
3.18471E-5 |
7-129015724-A-C
|
p.Lys5Thr |
missense |
AHCYL2 |
1 |
74634 |
1.33987E-5 |
37317 |
0 |
3.18471E-5 |
7-129015731-A-G
|
p.Lys7Lys |
synonymous |
AHCYL2 |
3 |
74656 |
4.01843E-5 |
37328 |
0 |
3.18471E-5 |
7-129015734-C-A
|
p.Tyr8* |
stop_gained |
AHCYL2 |
1 |
74646 |
1.33966E-5 |
37323 |
0 |
NA |
7-129015743-TG-T
|
p.Gly12fs |
frameshift |
AHCYL2 |
1 |
74626 |
1.34002E-5 |
37313 |
0 |
NA |
7-129015745-G-A
|
p.Gly12Asp |
missense |
AHCYL2 |
2 |
74616 |
2.68039E-5 |
37308 |
0 |
0.00132626 |
7-129015749-C-T
|
p.Asn13Asn |
synonymous |
AHCYL2 |
1 |
74622 |
1.34009E-5 |
37311 |
0 |
NA |
7-129015750-T-G
|
p.Ser14Ala |
missense |
AHCYL2 |
9 |
74612 |
1.20624E-4 |
37306 |
0 |
5.94628E-5 |
7-129017385-A-G
|
p.Lys15Arg |
missense+splice_region |
AHCYL2 |
1 |
53244 |
1.87815E-5 |
26622 |
0 |
NA |
7-129017410-A-G
|
p.Ser10Ser |
synonymous |
AHCYL2 |
15 |
53350 |
2.81162E-4 |
26675 |
0 |
0.00261535 |
7-129017423-G-A
|
p.Val15Ile |
missense |
AHCYL2 |
2 |
53372 |
3.74728E-5 |
26686 |
0 |
7.03334E-5 |
7-129017436-A-G
|
p.His19Arg |
missense |
AHCYL2 |
9 |
53394 |
1.68558E-4 |
26697 |
0 |
1.27413E-4 |
7-129017440-A-G
|
p.Gln20Gln |
synonymous |
AHCYL2 |
5 |
53394 |
9.36435E-5 |
26697 |
0 |
7.30418E-6 |
7-129017448-T-A
|
p.Ile23Asn |
missense |
AHCYL2 |
1 |
53380 |
1.87336E-5 |
26690 |
0 |
7.03829E-5 |
7-129017451-T-C
|
p.Phe24Ser |
missense |
AHCYL2 |
2 |
53386 |
3.7463E-5 |
26693 |
0 |
NA |
7-129017455-A-T
|
p.Leu25Phe |
missense |
AHCYL2 |
1 |
53392 |
1.87294E-5 |
26696 |
0 |
7.30396E-6 |
7-129019476-T-C
|
c.364-3T>C |
splice_region |
AHCYL2 |
1 |
80452 |
1.24298E-5 |
40226 |
0 |
NA |
7-129019478-G-A
|
c.364-1G>A |
splice_acceptor |
AHCYL2 |
1 |
80460 |
1.24285E-5 |
40230 |
0 |
1.24267E-4 |
7-129019492-C-T
|
p.Ala126Val |
missense |
AHCYL2 |
1 |
80556 |
1.24137E-5 |
40278 |
0 |
NA |
7-129019496-C-G
|
p.Asp127Glu |
missense |
AHCYL2 |
2 |
80574 |
2.48219E-5 |
40287 |
0 |
6.37389E-5 |
7-129019499-G-A
|
p.Gln128Gln |
synonymous |
AHCYL2 |
2 |
80592 |
2.48164E-5 |
40296 |
0 |
8.31628E-6 |
7-129019505-A-G
|
p.Gln130Gln |
synonymous |
AHCYL2 |
2 |
80606 |
2.4812E-5 |
40303 |
0 |
3.98181E-6 |
7-129019523-C-T
|
p.Pro136Pro |
synonymous |
AHCYL2 |
1 |
80592 |
1.24082E-5 |
40296 |
0 |
3.18715E-5 |
7-129019530-A-G
|
p.Ile139Val |
missense |
AHCYL2 |
2 |
80584 |
2.48188E-5 |
40292 |
0 |
4.13887E-5 |
7-129019552-G-A
|
p.Arg146His |
missense |
AHCYL2 |
1 |
80510 |
1.24208E-5 |
40255 |
0 |
8.29807E-6 |
7-129019558-T-A
|
p.Ile148Asn |
missense |
AHCYL2 |
1 |
80442 |
1.24313E-5 |
40221 |
0 |
3.98311E-6 |
7-129019577-C-A
|
p.Asp154Glu |
missense |
AHCYL2 |
2 |
80314 |
2.49023E-5 |
40157 |
0 |
NA |
7-129019584-A-T
|
p.Ser157Cys |
missense |
AHCYL2 |
4 |
80204 |
4.98728E-5 |
40102 |
0 |
NA |
7-129019589-A-G
|
p.Ser158Ser |
splice_region+synonymous |
AHCYL2 |
1 |
80122 |
1.2481E-5 |
40061 |
0 |
1.68626E-5 |
7-129019590-G-GCGGCTTCATATACAGATAGCTCTGATGATGAGACATCGCCCA
|
c.475_475+1insCGGCTTCATATACAGATAGCTCTGATGATGAGACATCGCCCA |
splice_donor |
AHCYL2 |
2 |
80124 |
2.49613E-5 |
40062 |
1 |
NA |
7-129019594-A-C
|
c.475+4A>C |
splice_region |
AHCYL2 |
2 |
80050 |
2.49844E-5 |
40025 |
0 |
8.01912E-6 |
7-129028897-C-T
|
p.Ala159Val |
missense+splice_region |
AHCYL2 |
1 |
80682 |
1.23943E-5 |
40341 |
0 |
9.60123E-5 |
7-129028898-G-T
|
p.Ala159Ala |
splice_region+synonymous |
AHCYL2 |
3 |
80676 |
3.71858E-5 |
40338 |
0 |
8.25832E-6 |
7-129028898-G-A
|
p.Ala159Ala |
splice_region+synonymous |
AHCYL2 |
2 |
80676 |
2.47905E-5 |
40338 |
0 |
2.09291E-5 |
7-129028909-C-T
|
p.Thr163Ile |
missense |
AHCYL2 |
1 |
80680 |
1.23946E-5 |
40340 |
0 |
NA |
7-129028910-A-G
|
p.Thr163Thr |
synonymous |
AHCYL2 |
2 |
80690 |
2.47862E-5 |
40345 |
0 |
1.59775E-5 |
7-129028913-T-C
|
p.Asp164Asp |
synonymous |
AHCYL2 |
1 |
80696 |
1.23922E-5 |
40348 |
0 |
3.98886E-6 |
7-129028931-A-G
|
p.Thr170Thr |
synonymous |
AHCYL2 |
2 |
80774 |
2.47604E-5 |
40387 |
0 |
NA |
7-129028934-G-A
|
p.Ser171Ser |
synonymous |
AHCYL2 |
2 |
80762 |
2.47641E-5 |
40381 |
0 |
5.77053E-5 |
7-129028943-C-G
|
p.Asp174Glu |
missense |
AHCYL2 |
6 |
80834 |
7.42262E-5 |
40417 |
0 |
4.37982E-5 |
7-129028963-A-G
|
p.Lys181Arg |
missense |
AHCYL2 |
2 |
80898 |
2.47225E-5 |
40449 |
0 |
3.18532E-5 |
7-129028969-G-A
|
p.Ser183Asn |
missense |
AHCYL2 |
2 |
80910 |
2.47188E-5 |
40455 |
0 |
8.24212E-6 |
7-129028988-G-A
|
p.Lys189Lys |
synonymous |
AHCYL2 |
1 |
80920 |
1.23579E-5 |
40460 |
0 |
8.24239E-6 |
7-129028992-A-G
|
p.Ile191Val |
missense |
AHCYL2 |
1 |
80930 |
1.23564E-5 |
40465 |
0 |
3.18512E-5 |
7-129028995-A-G
|
p.Lys192Glu |
missense |
AHCYL2 |
1 |
80930 |
1.23564E-5 |
40465 |
0 |
3.97912E-6 |
7-129029027-A-T
|
p.Glu202Asp |
missense |
AHCYL2 |
2 |
80948 |
2.47072E-5 |
40474 |
0 |
NA |
7-129029040-G-GAAATGCCT
|
c.619_619+1insAAATGCCT |
splice_donor |
AHCYL2 |
1 |
80908 |
1.23597E-5 |
40454 |
0 |
NA |
7-129029040-G-GAAATGCCTGCATTGATGGCTTTGA
|
c.619_619+1insAAATGCCTGCATTGATGGCTTTGA |
splice_donor |
AHCYL2 |
2 |
80908 |
2.47194E-5 |
40454 |
1 |
NA |
7-129029040-G-GAAATGCCTGCATTGATGGCTTTGAGGAAGAGA
|
c.619_619+1insAAATGCCTGCATTGATGGCTTTGAGGAAGAGA |
splice_donor |
AHCYL2 |
2 |
80908 |
2.47194E-5 |
40454 |
1 |
NA |
7-129029042-T-G
|
c.619+2T>G |
splice_donor |
AHCYL2 |
1 |
80888 |
1.23628E-5 |
40444 |
0 |
NA |
7-129029500-G-A
|
p.Arg215Arg |
synonymous |
AHCYL2 |
1 |
80520 |
1.24193E-5 |
40260 |
0 |
8.33194E-6 |
7-129029504-A-C
|
p.Arg217Arg |
synonymous |
AHCYL2 |
1 |
80540 |
1.24162E-5 |
40270 |
0 |
NA |
7-129029542-C-T
|
p.Ile229Ile |
synonymous |
AHCYL2 |
9 |
80586 |
1.11682E-4 |
40293 |
0 |
6.37227E-5 |
7-129029543-G-A
|
p.Val230Met |
missense |
AHCYL2 |
2 |
80584 |
2.48188E-5 |
40292 |
0 |
3.98572E-6 |
7-129029566-T-C
|
p.Ala237Ala |
synonymous |
AHCYL2 |
4 |
80496 |
4.96919E-5 |
40248 |
0 |
2.40612E-4 |
7-129029578-G-GCTTATGGAAACTCTGGGTGCTCTGGGGGCCCAGTGCCGATGGGCTGCC
|
c.720+3_720+4insCTTATGGAAACTCTGGGTGCTCTGGGGGCCCAGTGCCGATGGGCTGCC |
splice_region |
AHCYL2 |
2 |
80360 |
2.4888E-5 |
40180 |
1 |
NA |
7-129029578-G-GCTTATGGAAACTCTGGGTGCTCTGGGGGCCC
|
c.720+3_720+4insCTTATGGAAACTCTGGGTGCTCTGGGGGCCC |
splice_region |
AHCYL2 |
2 |
80360 |
2.4888E-5 |
40180 |
1 |
NA |
7-129029583-C-A
|
c.720+8C>A |
splice_region |
AHCYL2 |
2 |
80266 |
2.49171E-5 |
40133 |
0 |
8.60237E-6 |
7-129037056-A-C
|
c.721-7A>C |
splice_region |
AHCYL2 |
2 |
80828 |
2.47439E-5 |
40414 |
0 |
8.25955E-6 |
7-129037102-C-T
|
p.Arg254* |
stop_gained |
AHCYL2 |
1 |
80766 |
1.23814E-5 |
40383 |
0 |
NA |
7-129037103-G-A
|
p.Arg254Gln |
missense |
AHCYL2 |
1 |
80766 |
1.23814E-5 |
40383 |
0 |
0.00151057 |
7-129037104-A-C
|
p.Arg254Arg |
synonymous |
AHCYL2 |
7 |
80774 |
8.66616E-5 |
40387 |
0 |
0.00125 |
7-129037105-T-C
|
p.Trp255Arg |
missense |
AHCYL2 |
1 |
80770 |
1.23808E-5 |
40385 |
0 |
NA |
7-129037119-C-T
|
p.Asn259Asn |
synonymous |
AHCYL2 |
1 |
80698 |
1.23919E-5 |
40349 |
0 |
3.1841E-5 |
7-129037146-T-A
|
p.Ala268Ala |
synonymous |
AHCYL2 |
1 |
80536 |
1.24168E-5 |
40268 |
0 |
NA |
7-129037150-G-A
|
p.Ala270Thr |
missense |
AHCYL2 |
1 |
80500 |
1.24224E-5 |
40250 |
0 |
NA |
7-129037165-G-GGATTTCCTGTTTTTGCCTGGAAGGGAGA
|
c.823_823+1insGATTTCCTGTTTTTGCCTGGAAGGGAGA |
splice_donor |
AHCYL2 |
2 |
80398 |
2.48762E-5 |
40199 |
1 |
NA |
7-129037166-G-GA
|
c.823+1_823+2insA |
splice_donor |
AHCYL2 |
4 |
80370 |
4.97698E-5 |
40185 |
2 |
NA |
7-129040126-C-T
|
c.824-5C>T |
splice_region |
AHCYL2 |
1 |
80942 |
1.23545E-5 |
40471 |
0 |
9.78218E-5 |
7-129040153-G-A
|
p.Lys282Lys |
synonymous |
AHCYL2 |
466 |
81014 |
0.00575209 |
40507 |
5 |
0.00479423 |
7-129040159-G-A
|
p.Glu182Glu |
splice_region+synonymous |
AHCYL2 |
2 |
81024 |
2.4684E-5 |
40512 |
0 |
3.29489E-5 |
7-129040186-C-T
|
p.Ile293Ile |
synonymous |
AHCYL2 |
1 |
81040 |
1.23396E-5 |
40520 |
0 |
3.18939E-5 |
7-129040189-T-C
|
p.Asp294Asp |
synonymous |
AHCYL2 |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
2.47101E-5 |
7-129040195-T-C
|
p.Cys296Cys |
synonymous |
AHCYL2 |
2 |
81040 |
2.46792E-5 |
40520 |
0 |
NA |
7-129040225-G-GATCTTGGATGATGGAGGGGATCTTACCCACT
|
c.918_918+1insATCTTGGATGATGGAGGGGATCTTACCCACT |
splice_donor |
AHCYL2 |
2 |
80980 |
2.46975E-5 |
40490 |
1 |
NA |
7-129040225-G-GATCTT
|
c.918_918+1insATCTT |
splice_donor |
AHCYL2 |
2 |
80980 |
2.46975E-5 |
40490 |
1 |
NA |
7-129040225-G-GATCTTGGATGATGGAGGGGATCTTACCCACTGGATTTATAAAAA
|
c.918_918+1insATCTTGGATGATGGAGGGGATCTTACCCACTGGATTTATAAAAA |
splice_donor |
AHCYL2 |
2 |
80980 |
2.46975E-5 |
40490 |
1 |
NA |
7-129043213-A-G
|
c.919-7A>G |
splice_region |
AHCYL2 |
4 |
80422 |
4.97376E-5 |
40211 |
0 |
3.18512E-5 |
7-129043249-C-T
|
p.His316His |
synonymous |
AHCYL2 |
1 |
80830 |
1.23716E-5 |
40415 |
0 |
NA |
7-129043254-T-C
|
p.Ile318Thr |
missense |
AHCYL2 |
2 |
80832 |
2.47427E-5 |
40416 |
0 |
4.808E-5 |
7-129043274-A-G
|
p.Met325Val |
missense |
AHCYL2 |
1 |
80872 |
1.23652E-5 |
40436 |
0 |
8.27061E-6 |
7-129043282-G-A
|
p.Lys327Lys |
synonymous |
AHCYL2 |
1 |
80882 |
1.23637E-5 |
40441 |
0 |
NA |
7-129043295-A-G
|
p.Ile332Val |
missense |
AHCYL2 |
1 |
80864 |
1.23664E-5 |
40432 |
0 |
4.00753E-6 |
7-129043295-A-T
|
p.Ile332Leu |
missense |
AHCYL2 |
1 |
80864 |
1.23664E-5 |
40432 |
0 |
4.00753E-6 |
7-129043298-G-A
|
p.Val333Ile |
missense |
AHCYL2 |
1 |
80858 |
1.23674E-5 |
40429 |
0 |
2.23862E-4 |
7-129043315-T-G
|
p.Thr338Thr |
synonymous |
AHCYL2 |
3 |
80776 |
3.71397E-5 |
40388 |
0 |
8.33875E-6 |
7-129043327-G-GC
|
c.1025+1_1025+2insC |
splice_donor |
AHCYL2 |
4 |
80612 |
4.96204E-5 |
40306 |
1 |
NA |
7-129045019-C-A
|
p.Asp369Glu |
missense |
AHCYL2 |
1 |
80742 |
1.23851E-5 |
40371 |
0 |
NA |
7-129045044-A-G
|
p.Ile378Val |
missense |
AHCYL2 |
1 |
80584 |
1.24094E-5 |
40292 |
0 |
4.1448E-6 |
7-129045054-G-GACTTAAAAGGACAACAGACATGATGTTTGGTGGAAAGCAA
|
c.1142_1142+1insACTTAAAAGGACAACAGACATGATGTTTGGTGGAAAGCAA |
splice_donor |
AHCYL2 |
4 |
80430 |
4.97327E-5 |
40215 |
1 |
NA |
7-129045054-G-GACTTAAAAGGACAACAGACATGAT
|
c.1142_1142+1insACTTAAAAGGACAACAGACATGAT |
splice_donor |
AHCYL2 |
2 |
80430 |
2.48663E-5 |
40215 |
1 |
NA |
7-129045054-G-GACTTAAAAGGACAACAGACATGATGTTTGGTGGAAAGCAAGT
|
c.1142_1142+1insACTTAAAAGGACAACAGACATGATGTTTGGTGGAAAGCAAGT |
splice_donor |
AHCYL2 |
1 |
80430 |
1.24332E-5 |
40215 |
0 |
NA |
7-129045058-A-G
|
c.1142+4A>G |
splice_region |
AHCYL2 |
8 |
80340 |
9.95768E-5 |
40170 |
0 |
6.80627E-4 |
7-129045669-T-C
|
c.1143-8T>C |
splice_region |
AHCYL2 |
1 |
80320 |
1.24502E-5 |
40160 |
0 |
2.14221E-4 |
7-129045695-C-T
|
p.Asp387Asp |
synonymous |
AHCYL2 |
1 |
80792 |
1.23775E-5 |
40396 |
0 |
NA |
7-129045700-T-C
|
p.Met389Thr |
missense |
AHCYL2 |
1 |
80808 |
1.2375E-5 |
40404 |
0 |
NA |
7-129045742-T-A
|
c.1206+2T>A |
splice_donor |
AHCYL2 |
1 |
80778 |
1.23796E-5 |
40389 |
0 |
NA |
7-129045746-GTTTAACC-G
|
c.1206+7_1206+13delTTTAACC |
splice_region |
AHCYL2 |
1 |
80734 |
1.23864E-5 |
40367 |
0 |
NA |
7-129046233-C-T
|
p.Cys407Cys |
synonymous |
AHCYL2 |
1 |
80632 |
1.2402E-5 |
40316 |
0 |
3.18573E-5 |
7-129046259-C-T
|
p.Ser416Phe |
missense |
AHCYL2 |
1 |
80776 |
1.23799E-5 |
40388 |
0 |
NA |
7-129046261-A-G
|
p.Ile417Val |
missense |
AHCYL2 |
1 |
80758 |
1.23827E-5 |
40379 |
0 |
NA |
7-129046266-G-A
|
p.Val418Val |
synonymous |
AHCYL2 |
2 |
80782 |
2.4758E-5 |
40391 |
0 |
NA |
7-129046268-A-G
|
p.Tyr419Cys |
missense |
AHCYL2 |
5 |
80776 |
6.18996E-5 |
40388 |
0 |
NA |
7-129046284-C-T
|
p.Asp424Asp |
synonymous |
AHCYL2 |
2 |
80748 |
2.47684E-5 |
40374 |
0 |
NA |
7-129046295-C-T
|
p.Ala428Val |
missense |
AHCYL2 |
1 |
80700 |
1.23916E-5 |
40350 |
0 |
NA |
7-129046296-C-T
|
p.Ala428Ala |
synonymous |
AHCYL2 |
2 |
80696 |
2.47844E-5 |
40348 |
0 |
3.29478E-5 |
7-129046304-C-CCTGTATGGATGGATTTCGA
|
p.Ile423fs |
frameshift |
AHCYL2 |
2 |
80652 |
2.47979E-5 |
40326 |
1 |
NA |
7-129049311-C-T
|
c.1296-6C>T |
splice_region |
AHCYL2 |
1 |
80638 |
1.24011E-5 |
40319 |
0 |
3.59152E-5 |
7-129049333-C-G
|
p.Leu438Val |
missense |
AHCYL2 |
1 |
80726 |
1.23876E-5 |
40363 |
0 |
NA |
7-129049334-T-C
|
p.Leu438Pro |
missense |
AHCYL2 |
2 |
80738 |
2.47715E-5 |
40369 |
0 |
3.18451E-5 |
7-129049358-G-A
|
p.Arg446Gln |
missense |
AHCYL2 |
2 |
80742 |
2.47703E-5 |
40371 |
0 |
NA |
7-129049360-C-A
|
p.Gln447Lys |
missense |
AHCYL2 |
2 |
80746 |
2.4769E-5 |
40373 |
0 |
NA |
7-129049364-T-G
|
p.Val448Gly |
missense |
AHCYL2 |
1 |
80732 |
1.23867E-5 |
40366 |
0 |
NA |
7-129053441-A-G
|
p.Lys458Arg |
missense |
AHCYL2 |
1 |
80786 |
1.23784E-5 |
40393 |
0 |
8.24103E-6 |
7-129053444-A-G
|
p.Asn459Ser |
missense |
AHCYL2 |
1 |
80782 |
1.2379E-5 |
40391 |
0 |
3.97826E-6 |
7-129053450-T-C
|
p.Val461Ala |
missense |
AHCYL2 |
3 |
80830 |
3.71149E-5 |
40415 |
0 |
8.23995E-6 |
7-129053470-C-T
|
p.Arg468Cys |
missense |
AHCYL2 |
1 |
80866 |
1.23661E-5 |
40433 |
0 |
NA |
7-129053471-G-A
|
p.Arg468His |
missense |
AHCYL2 |
1 |
80866 |
1.23661E-5 |
40433 |
0 |
1.64772E-5 |
7-129053475-G-T
|
p.Met469Ile |
missense |
AHCYL2 |
2 |
80898 |
2.47225E-5 |
40449 |
0 |
NA |
7-129053483-G-A
|
p.Ser472Asn |
missense |
AHCYL2 |
1 |
80882 |
1.23637E-5 |
40441 |
0 |
3.9781E-6 |
7-129053490-C-T
|
p.Ile474Ile |
synonymous |
AHCYL2 |
3 |
80870 |
3.70966E-5 |
40435 |
0 |
6.36862E-5 |
7-129053491-G-A
|
p.Val475Ile |
missense |
AHCYL2 |
1 |
80858 |
1.23674E-5 |
40429 |
0 |
3.2956E-5 |
7-129053505-A-C
|
p.Gly479Gly |
synonymous |
AHCYL2 |
8 |
80826 |
9.89781E-5 |
40413 |
0 |
9.06379E-5 |
7-129053522-T-C
|
p.Ile485Thr |
missense |
AHCYL2 |
1 |
80700 |
1.23916E-5 |
40350 |
0 |
8.24375E-6 |
7-129053526-C-T
|
p.Asp486Asp |
synonymous |
AHCYL2 |
2 |
80666 |
2.47936E-5 |
40333 |
0 |
3.18552E-5 |
7-129053526-C-G
|
p.Asp486Glu |
missense |
AHCYL2 |
1 |
80666 |
1.23968E-5 |
40333 |
0 |
3.98029E-6 |
7-129053527-G-A
|
p.Val487Met |
missense+splice_region |
AHCYL2 |
1 |
80646 |
1.23999E-5 |
40323 |
0 |
NA |
7-129053529-G-GGCGA
|
c.1461_1461+1insGCGA |
splice_donor |
AHCYL2 |
1 |
80650 |
1.23993E-5 |
40325 |
0 |
NA |
7-129053529-G-GGCGAGTCTGCGGACACCAGAACTGACCTGGGAGCGA
|
c.1461_1461+1insGCGAGTCTGCGGACACCAGAACTGACCTGGGAGCGA |
splice_donor |
AHCYL2 |
1 |
80650 |
1.23993E-5 |
40325 |
0 |
NA |
7-129062682-C-T
|
p.Ala488Val |
missense+splice_region |
AHCYL2 |
3 |
80794 |
3.71315E-5 |
40397 |
0 |
3.58586E-5 |
7-129062683-G-A
|
p.Ala488Ala |
splice_region+synonymous |
AHCYL2 |
1 |
80800 |
1.23762E-5 |
40400 |
0 |
3.98222E-5 |
7-129062722-A-G
|
p.Arg501Arg |
synonymous |
AHCYL2 |
1 |
80858 |
1.23674E-5 |
40429 |
0 |
NA |
7-129062728-A-G
|
p.Gln503Gln |
synonymous |
AHCYL2 |
1 |
80860 |
1.23671E-5 |
40430 |
0 |
3.18471E-5 |
7-129062730-T-C
|
p.Val504Ala |
missense |
AHCYL2 |
1 |
80848 |
1.23689E-5 |
40424 |
0 |
3.97779E-6 |
7-129062761-G-A
|
p.Arg514Arg |
synonymous |
AHCYL2 |
2 |
80648 |
2.47991E-5 |
40324 |
0 |
8.24769E-6 |
7-129062768-C-T
|
p.Leu517Leu |
synonymous |
AHCYL2 |
1 |
80520 |
1.24193E-5 |
40260 |
0 |
NA |
7-129062772-T-C
|
p.Leu518Pro |
missense |
AHCYL2 |
1 |
80444 |
1.2431E-5 |
40222 |
0 |
NA |
7-129062773-G-T
|
p.Leu518Leu |
synonymous |
AHCYL2 |
2 |
80426 |
2.48676E-5 |
40213 |
0 |
NA |
7-129062784-G-A
|
c.1560+5G>A |
splice_region |
AHCYL2 |
1 |
80078 |
1.24878E-5 |
40039 |
0 |
3.18492E-5 |
7-129064709-C-T
|
c.1561-6C>T |
splice_region |
AHCYL2 |
1 |
80290 |
1.24549E-5 |
40145 |
0 |
NA |
7-129064712-T-C
|
c.1561-3T>C |
splice_region |
AHCYL2 |
1 |
80388 |
1.24397E-5 |
40194 |
0 |
1.98875E-5 |
7-129064718-C-T
|
p.Arg522Cys |
missense |
AHCYL2 |
1 |
80546 |
1.24153E-5 |
40273 |
0 |
3.97741E-6 |
7-129064719-G-A
|
p.Arg522His |
missense |
AHCYL2 |
1 |
80610 |
1.24054E-5 |
40305 |
0 |
8.23805E-6 |
7-129064730-C-T
|
p.Leu526Phe |
missense |
AHCYL2 |
3 |
80840 |
3.71103E-5 |
40420 |
0 |
3.29506E-5 |
7-129064748-C-A
|
p.Pro532Thr |
missense |
AHCYL2 |
2 |
80970 |
2.47005E-5 |
40485 |
0 |
8.23723E-6 |
7-129064753-A-T
|
p.Thr533Thr |
synonymous |
AHCYL2 |
6 |
80994 |
7.40796E-5 |
40497 |
0 |
1.2747E-4 |
7-129064766-A-G
|
p.Ile538Val |
missense |
AHCYL2 |
1 |
80996 |
1.23463E-5 |
40498 |
0 |
3.18492E-5 |
7-129064771-T-C
|
p.Thr539Thr |
synonymous |
AHCYL2 |
1 |
81008 |
1.23445E-5 |
40504 |
0 |
8.23778E-6 |
7-129064781-CAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTCAGACCCACCAGGTTTCACTTGCTTGGGTAGATTGCCATGAATGGCACATCAGCATCCATCTCTCTGCTTTTCT-C
|
p.Gln543fs |
frameshift |
AHCYL2 |
7 |
81022 |
8.63963E-5 |
40511 |
0 |
NA |
7-129064784-G-A
|
c.1629+1G>A |
splice_donor |
AHCYL2 |
1 |
81018 |
1.23429E-5 |
40509 |
0 |
NA |
7-129064789-G-A
|
c.1629+6G>A |
splice_region |
AHCYL2 |
4 |
81000 |
4.93827E-5 |
40500 |
0 |
3.29516E-5 |
7-129064789-G-T
|
c.1629+6G>T |
splice_region |
AHCYL2 |
1 |
81000 |
1.23457E-5 |
40500 |
0 |
NA |
7-129064927-C-T
|
p.Tyr551Tyr |
synonymous |
AHCYL2 |
11 |
80938 |
1.35906E-4 |
40469 |
0 |
4.77737E-4 |
7-129064933-T-C
|
p.Ala553Ala |
synonymous |
AHCYL2 |
1 |
80944 |
1.23542E-5 |
40472 |
0 |
NA |
7-129064944-G-A
|
p.Arg557His |
missense |
AHCYL2 |
1 |
80916 |
1.23585E-5 |
40458 |
0 |
3.18451E-5 |
7-129064952-C-T
|
p.Gln560* |
stop_gained |
AHCYL2 |
1 |
80908 |
1.23597E-5 |
40454 |
0 |
NA |
7-129064960-C-T
|
p.Val562Val |
synonymous |
AHCYL2 |
2 |
80882 |
2.47274E-5 |
40441 |
0 |
NA |
7-129066277-G-C
|
c.1709-7G>C |
splice_region |
AHCYL2 |
2 |
81012 |
2.46877E-5 |
40506 |
0 |
8.23805E-6 |
7-129066384-C-T
|
p.Pro603Pro |
synonymous |
AHCYL2 |
1 |
81008 |
1.23445E-5 |
40504 |
0 |
NA |
7-129066393-T-G
|
p.Pro606Pro |
synonymous |
AHCYL2 |
7 |
80984 |
8.64368E-5 |
40492 |
0 |
1.27453E-4 |
7-129066406-T-TATTAAGTTCCTGTAACTCAAACCAGAATTTTTAAGGAATAGAACTCCAA
|
c.1829+2_1829+3insATTAAGTTCCTGTAACTCAAACCAGAATTTTTAAGGAATAGAACTCCAA |
splice_region |
AHCYL2 |
3 |
80946 |
3.70617E-5 |
40473 |
1 |
NA |
7-129066873-C-T
|
c.1830-7C>T |
splice_region |
AHCYL2 |
1 |
79372 |
1.25989E-5 |
39686 |
0 |
NA |
7-129066876-C-G
|
c.1830-4C>G |
splice_region |
AHCYL2 |
1 |
79402 |
1.25941E-5 |
39701 |
0 |
3.18776E-5 |
7-129067050-C-G
|
c.*164C>G |
splice_region |
AHCYL2 |
3 |
68510 |
4.37892E-5 |
34255 |
0 |
NA |
7-129067053-T-C
|
c.*167T>C |
splice_region |
AHCYL2 |
18670 |
64802 |
0.288108 |
32401 |
2390 |
0.311697 |