8-24241838-A-G
|
c.-180A>G |
5_prime_UTR_premature_start_codon_gain |
ADAMDEC1 |
1 |
46522 |
2.14952E-5 |
23261 |
0 |
NA |
8-24241864-A-T
|
c.-154A>T |
5_prime_UTR_premature_start_codon_gain |
ADAMDEC1 |
1 |
60196 |
1.66124E-5 |
30098 |
0 |
NA |
8-24241887-T-G
|
c.-131T>G |
5_prime_UTR_premature_start_codon_gain |
ADAMDEC1 |
1 |
66900 |
1.49477E-5 |
33450 |
0 |
NA |
8-24241931-C-T
|
c.-87C>T |
5_prime_UTR_premature_start_codon_gain |
ADAMDEC1 |
1 |
75950 |
1.31666E-5 |
37975 |
0 |
6.25E-4 |
8-24241937-G-A
|
c.-81G>A |
5_prime_UTR_premature_start_codon_gain |
ADAMDEC1 |
3 |
76664 |
3.91318E-5 |
38332 |
0 |
NA |
8-24242024-C-T
|
p.Arg3Cys |
missense |
ADAMDEC1 |
1 |
80024 |
1.24963E-5 |
40012 |
0 |
1.24061E-5 |
8-24242027-G-A
|
p.Gly4Arg |
missense |
ADAMDEC1 |
2 |
80070 |
2.49781E-5 |
40035 |
0 |
4.11347E-6 |
8-24242028-G-A
|
p.Gly4Glu |
missense |
ADAMDEC1 |
3 |
80070 |
3.74672E-5 |
40035 |
0 |
3.36255E-5 |
8-24242029-G-T
|
p.Gly4Gly |
synonymous |
ADAMDEC1 |
2 |
80090 |
2.49719E-5 |
40045 |
0 |
3.1839E-5 |
8-24242031-T-C
|
p.Ile5Thr |
missense |
ADAMDEC1 |
4 |
80110 |
4.99313E-5 |
40055 |
0 |
4.39174E-5 |
8-24242031-T-G
|
p.Ile5Ser |
missense |
ADAMDEC1 |
1 |
80110 |
1.24828E-5 |
40055 |
0 |
1.09794E-5 |
8-24242032-C-T
|
p.Ile5Ile |
synonymous |
ADAMDEC1 |
2 |
80136 |
2.49576E-5 |
40068 |
0 |
NA |
8-24242049-T-G
|
p.Val11Gly |
missense |
ADAMDEC1 |
4 |
80282 |
4.98244E-5 |
40141 |
0 |
3.18471E-5 |
8-24242049-T-C
|
p.Val11Ala |
missense |
ADAMDEC1 |
1 |
80282 |
1.24561E-5 |
40141 |
0 |
NA |
8-24242054-A-G
|
p.Thr13Ala |
missense |
ADAMDEC1 |
2 |
80294 |
2.49085E-5 |
40147 |
0 |
0.0015121 |
8-24242068-C-T
|
p.Val17Val |
synonymous |
ADAMDEC1 |
1 |
80308 |
1.24521E-5 |
40154 |
0 |
3.18471E-5 |
8-24242084-T-C
|
p.Trp23Arg |
missense |
ADAMDEC1 |
1 |
80230 |
1.24642E-5 |
40115 |
0 |
NA |
8-24242087-C-T
|
p.Leu24Phe |
missense |
ADAMDEC1 |
1 |
80212 |
1.2467E-5 |
40106 |
0 |
NA |
8-24242089-C-G
|
c.-47C>G |
5_prime_UTR_premature_start_codon_gain |
ADAMDEC1 |
1 |
80166 |
1.24741E-5 |
40083 |
0 |
NA |
8-24242098-A-G
|
p.Gln27Gln |
synonymous |
ADAMDEC1 |
1 |
80094 |
1.24853E-5 |
40047 |
0 |
NA |
8-24242105-GGTAC-G
|
c.88+1_88+4delGTAC |
splice_donor |
ADAMDEC1 |
2 |
80022 |
2.49931E-5 |
40011 |
0 |
6.37308E-5 |
8-24242109-C-T
|
c.88+4C>T |
splice_region |
ADAMDEC1 |
1 |
79862 |
1.25216E-5 |
39931 |
0 |
3.18552E-5 |
8-24242110-G-A
|
c.88+5G>A |
splice_region |
ADAMDEC1 |
2 |
79838 |
2.50507E-5 |
39919 |
0 |
8.43419E-6 |
8-24247643-C-T
|
p.Ala30Ala |
splice_region+synonymous |
ADAMDEC1 |
2 |
24026 |
8.32432E-5 |
12013 |
0 |
0.00448263 |
8-24247654-C-T
|
p.Ala34Val |
missense |
ADAMDEC1 |
1 |
24574 |
4.06934E-5 |
12287 |
0 |
9.56145E-5 |
8-24247655-G-A
|
c.-226G>A |
5_prime_UTR_premature_start_codon_gain |
ADAMDEC1 |
2 |
24644 |
8.11557E-5 |
12322 |
0 |
9.55718E-5 |
8-24247669-G-C
|
p.Ser39Thr |
missense |
ADAMDEC1 |
1 |
26200 |
3.81679E-5 |
13100 |
0 |
7.88569E-6 |
8-24247674-C-T
|
p.Gln41* |
stop_gained |
ADAMDEC1 |
1 |
26852 |
3.72412E-5 |
13426 |
0 |
0.00112275 |
8-24247700-T-G
|
c.-181T>G |
5_prime_UTR_premature_start_codon_gain |
ADAMDEC1 |
2 |
28688 |
6.97156E-5 |
14344 |
0 |
2.79397E-4 |
8-24247722-A-G
|
c.-159A>G |
5_prime_UTR_premature_start_codon_gain |
ADAMDEC1 |
1 |
29106 |
3.43572E-5 |
14553 |
0 |
1.66667E-5 |
8-24247732-G-GT
|
c.*52+1_*52+2insT |
splice_donor |
ADAMDEC1 |
1 |
29020 |
3.4459E-5 |
14510 |
0 |
NA |
8-24247733-T-C
|
c.*52+2T>C |
splice_donor |
ADAMDEC1 |
1 |
29088 |
3.43784E-5 |
14544 |
0 |
3.18512E-5 |
8-24249777-A-G
|
p.Ile31Val |
missense+splice_region |
ADAMDEC1 |
1 |
79994 |
1.25009E-5 |
39997 |
0 |
1.67112E-5 |
8-24249778-T-A
|
p.Ile31Lys |
missense |
ADAMDEC1 |
2 |
80002 |
2.49994E-5 |
40001 |
0 |
2.50501E-5 |
8-24249781-C-T
|
p.Ala32Val |
missense |
ADAMDEC1 |
1 |
80080 |
1.24875E-5 |
40040 |
0 |
NA |
8-24249805-C-T
|
p.Thr40Met |
missense |
ADAMDEC1 |
161 |
80276 |
0.00200558 |
40138 |
0 |
0.00404536 |
8-24249806-G-A
|
p.Thr40Thr |
synonymous |
ADAMDEC1 |
1 |
80264 |
1.24589E-5 |
40132 |
0 |
6.62899E-5 |
8-24249817-T-G
|
p.Ile44Arg |
missense |
ADAMDEC1 |
252 |
80332 |
0.00313698 |
40166 |
3 |
0.00484076 |
8-24249833-A-T
|
p.Lys49Asn |
missense |
ADAMDEC1 |
2 |
80406 |
2.48738E-5 |
40203 |
0 |
NA |
8-24249839-C-T
|
p.His51His |
synonymous |
ADAMDEC1 |
1 |
80432 |
1.24329E-5 |
40216 |
0 |
4.13777E-5 |
8-24249868-A-C
|
p.Asn61Thr |
missense |
ADAMDEC1 |
1 |
80480 |
1.24254E-5 |
40240 |
0 |
2.48505E-5 |
8-24249875-A-G
|
p.Thr63Thr |
synonymous |
ADAMDEC1 |
4 |
80460 |
4.97141E-5 |
40230 |
0 |
1.27356E-4 |
8-24250767-G-T
|
c.208-8G>T |
splice_region |
ADAMDEC1 |
6 |
77262 |
7.76578E-5 |
38631 |
0 |
5.1428E-5 |
8-24250780-G-A
|
p.Arg71Arg |
synonymous |
ADAMDEC1 |
3 |
78162 |
3.83818E-5 |
39081 |
0 |
6.68282E-5 |
8-24250786-A-G
|
p.Glu73Glu |
synonymous |
ADAMDEC1 |
1 |
78358 |
1.27619E-5 |
39179 |
0 |
1.66592E-5 |
8-24250787-C-A
|
p.Pro74Thr |
missense |
ADAMDEC1 |
2 |
78300 |
2.55428E-5 |
39150 |
0 |
8.32639E-6 |
8-24250797-A-G
|
p.Gln77Arg |
missense |
ADAMDEC1 |
4 |
78572 |
5.09087E-5 |
39286 |
0 |
4.15524E-5 |
8-24250802-C-T
|
p.Gln79* |
stop_gained |
ADAMDEC1 |
2 |
78634 |
2.54343E-5 |
39317 |
0 |
2.49207E-5 |
8-24250809-T-C
|
p.Ile81Thr |
missense |
ADAMDEC1 |
883 |
78666 |
0.0112247 |
39333 |
33 |
0.0234226 |
8-24250823-G-T
|
p.Glu86* |
stop_gained |
ADAMDEC1 |
1 |
78572 |
1.27272E-5 |
39286 |
0 |
6.25E-4 |
8-24250832-C-G
|
p.Leu89Val |
missense |
ADAMDEC1 |
868 |
78402 |
0.0110711 |
39201 |
1 |
0.017522 |
8-24250834-C-A
|
p.Leu89Leu |
synonymous |
ADAMDEC1 |
1 |
78496 |
1.27395E-5 |
39248 |
0 |
NA |
8-24250840-A-G
|
p.Leu91Leu |
synonymous |
ADAMDEC1 |
3 |
78384 |
3.82731E-5 |
39192 |
0 |
NA |
8-24250841-C-T
|
p.Gln92* |
stop_gained |
ADAMDEC1 |
1 |
78370 |
1.276E-5 |
39185 |
0 |
3.32419E-5 |
8-24250858-T-G
|
c.284+7T>G |
splice_region |
ADAMDEC1 |
1 |
77770 |
1.28584E-5 |
38885 |
0 |
NA |
8-24251578-A-G
|
c.285-4A>G |
splice_region |
ADAMDEC1 |
1 |
79354 |
1.26018E-5 |
39677 |
0 |
8.30248E-6 |
8-24251583-C-A
|
p.His96Asn |
missense+splice_region |
ADAMDEC1 |
2 |
79482 |
2.51629E-5 |
39741 |
0 |
9.57717E-5 |
8-24251585-C-T
|
p.His96His |
synonymous |
ADAMDEC1 |
2 |
79530 |
2.51477E-5 |
39765 |
0 |
7.97989E-6 |
8-24251585-C-A
|
p.His96Gln |
missense |
ADAMDEC1 |
1 |
79530 |
1.25739E-5 |
39765 |
0 |
NA |
8-24251587-T-G
|
p.Leu97Arg |
missense |
ADAMDEC1 |
2 |
79548 |
2.51421E-5 |
39774 |
0 |
NA |
8-24251594-G-A
|
p.Gly99Gly |
synonymous |
ADAMDEC1 |
1 |
79668 |
1.25521E-5 |
39834 |
0 |
3.56356E-4 |
8-24251599-A-C
|
p.Asp101Ala |
missense |
ADAMDEC1 |
15 |
79694 |
1.8822E-4 |
39847 |
0 |
0.001875 |
8-24251605-C-T
|
p.Thr103Ile |
missense |
ADAMDEC1 |
1 |
79764 |
1.2537E-5 |
39882 |
0 |
8.28308E-6 |
8-24251614-T-C
|
p.Leu106Ser |
missense |
ADAMDEC1 |
1 |
79788 |
1.25332E-5 |
39894 |
0 |
5.97786E-5 |
8-24251623-C-T
|
p.Pro109Leu |
missense |
ADAMDEC1 |
1 |
79774 |
1.25354E-5 |
39887 |
0 |
3.98559E-6 |
8-24251644-C-T
|
p.Thr116Met |
missense |
ADAMDEC1 |
11 |
79616 |
1.38163E-4 |
39808 |
0 |
0.00103822 |
8-24251658-A-G
|
p.Met121Val |
missense+splice_region |
ADAMDEC1 |
1 |
79456 |
1.25856E-5 |
39728 |
0 |
NA |
8-24251659-T-C
|
p.Met121Thr |
missense+splice_region |
ADAMDEC1 |
981 |
79394 |
0.0123561 |
39697 |
37 |
0.0255447 |
8-24253237-A-T
|
p.His123Leu |
missense |
ADAMDEC1 |
1 |
79888 |
1.25175E-5 |
39944 |
0 |
NA |
8-24253246-A-G
|
p.Tyr126Cys |
missense |
ADAMDEC1 |
3 |
80024 |
3.74888E-5 |
40012 |
0 |
1.99494E-5 |
8-24253260-C-G
|
p.Leu131Val |
missense |
ADAMDEC1 |
1 |
80166 |
1.24741E-5 |
40083 |
0 |
NA |
8-24253271-G-T
|
p.Lys134Asn |
missense |
ADAMDEC1 |
1 |
80222 |
1.24654E-5 |
40111 |
0 |
3.98708E-6 |
8-24253290-A-G
|
p.Ser141Gly |
missense |
ADAMDEC1 |
20 |
80190 |
2.49408E-4 |
40095 |
0 |
2.23259E-4 |
8-24253299-G-A
|
p.Asp144Asn |
missense |
ADAMDEC1 |
2 |
80146 |
2.49545E-5 |
40073 |
0 |
2.39303E-5 |
8-24253301-C-T
|
p.Asp144Asp |
synonymous |
ADAMDEC1 |
3 |
80108 |
3.74494E-5 |
40054 |
0 |
1.65667E-5 |
8-24253302-G-A
|
p.Gly145Arg |
missense |
ADAMDEC1 |
1 |
80084 |
1.24869E-5 |
40042 |
0 |
1.1972E-5 |
8-24253307-G-A
|
p.Leu146Leu |
splice_region+synonymous |
ADAMDEC1 |
1 |
80046 |
1.24928E-5 |
40023 |
0 |
8.28816E-6 |
8-24253310-G-A
|
c.440+1G>A |
splice_donor |
ADAMDEC1 |
1 |
79964 |
1.25056E-5 |
39982 |
0 |
3.99425E-6 |
8-24254778-C-T
|
c.441-5C>T |
splice_region |
ADAMDEC1 |
1 |
80264 |
1.24589E-5 |
40132 |
0 |
8.09684E-6 |
8-24254779-C-A
|
c.441-4C>A |
splice_region |
ADAMDEC1 |
1 |
80276 |
1.2457E-5 |
40138 |
0 |
NA |
8-24254789-C-G
|
p.Tyr149* |
stop_gained |
ADAMDEC1 |
1 |
80340 |
1.24471E-5 |
40170 |
0 |
NA |
8-24254790-T-G
|
p.Phe150Val |
missense |
ADAMDEC1 |
3 |
80350 |
3.73367E-5 |
40175 |
0 |
NA |
8-24254800-A-T
|
p.His153Leu |
missense |
ADAMDEC1 |
1 |
80392 |
1.2439E-5 |
40196 |
0 |
NA |
8-24254813-C-A
|
p.Tyr157* |
stop_gained |
ADAMDEC1 |
1 |
80444 |
1.2431E-5 |
40222 |
0 |
NA |
8-24254818-T-C
|
p.Ile159Thr |
missense |
ADAMDEC1 |
1 |
80462 |
1.24282E-5 |
40231 |
0 |
2.79247E-5 |
8-24254829-A-G
|
p.Lys163Glu |
missense |
ADAMDEC1 |
4 |
80466 |
4.97104E-5 |
40233 |
0 |
6.25E-4 |
8-24254840-C-T
|
p.Asp166Asp |
synonymous |
ADAMDEC1 |
5 |
80472 |
6.21334E-5 |
40236 |
0 |
2.15268E-4 |
8-24254841-G-A
|
p.Glu167Lys |
missense |
ADAMDEC1 |
1 |
80476 |
1.24261E-5 |
40238 |
0 |
1.65254E-5 |
8-24254847-G-A
|
p.Glu169Lys |
missense |
ADAMDEC1 |
1 |
80500 |
1.24224E-5 |
40250 |
0 |
1.27564E-4 |
8-24254855-C-T
|
p.Ala171Ala |
synonymous |
ADAMDEC1 |
10 |
80474 |
1.24264E-4 |
40237 |
0 |
1.91095E-4 |
8-24254856-G-T
|
p.Val172Phe |
missense |
ADAMDEC1 |
8 |
80480 |
9.94036E-5 |
40240 |
0 |
9.96691E-5 |
8-24254856-G-A
|
p.Val172Ile |
missense |
ADAMDEC1 |
4 |
80480 |
4.97018E-5 |
40240 |
0 |
7.43777E-5 |
8-24254880-C-A
|
p.Gln180Lys |
missense |
ADAMDEC1 |
1 |
80462 |
1.24282E-5 |
40231 |
0 |
1.65407E-5 |
8-24254887-C-T
|
p.Pro182Leu |
missense |
ADAMDEC1 |
1 |
80456 |
1.24292E-5 |
40228 |
0 |
4.96303E-5 |
8-24254917-C-T
|
p.Thr192Ile |
missense |
ADAMDEC1 |
1 |
80344 |
1.24465E-5 |
40172 |
0 |
2.48451E-5 |
8-24254921-C-T
|
p.Asp193Asp |
synonymous |
ADAMDEC1 |
6 |
80320 |
7.47012E-5 |
40160 |
0 |
9.55536E-5 |
8-24254922-G-A
|
p.Gly194Arg |
missense |
ADAMDEC1 |
2 |
80310 |
2.49035E-5 |
40155 |
0 |
3.18532E-4 |
8-24254933-C-T
|
p.Gly197Gly |
synonymous |
ADAMDEC1 |
3 |
80246 |
3.7385E-5 |
40123 |
0 |
3.59416E-5 |
8-24254941-G-A
|
p.Arg200Gln |
missense |
ADAMDEC1 |
4 |
80176 |
4.98902E-5 |
40088 |
0 |
3.19714E-5 |
8-24254942-AATCTCTAG-A
|
p.Ser202fs |
frameshift |
ADAMDEC1 |
4 |
80176 |
4.98902E-5 |
40088 |
0 |
5.80595E-5 |
8-24254959-A-G
|
p.Lys206Arg |
missense |
ADAMDEC1 |
1 |
80012 |
1.24981E-5 |
40006 |
0 |
1.66016E-5 |
8-24254963-C-T
|
p.Ser207Ser |
synonymous |
ADAMDEC1 |
1 |
79960 |
1.25063E-5 |
39980 |
0 |
NA |
8-24254967-G-A
|
p.Glu209Lys |
missense+splice_region |
ADAMDEC1 |
1 |
79902 |
1.25153E-5 |
39951 |
0 |
3.18552E-5 |
8-24254974-A-G
|
c.627+5A>G |
splice_region |
ADAMDEC1 |
1 |
79810 |
1.25298E-5 |
39905 |
0 |
NA |
8-24255189-T-C
|
c.628-7T>C |
splice_region |
ADAMDEC1 |
1 |
79794 |
1.25323E-5 |
39897 |
0 |
NA |
8-24255196-AAAG-A
|
p.Glu211del |
disruptive_inframe_deletion |
ADAMDEC1 |
3 |
79860 |
3.75657E-5 |
39930 |
0 |
4.17509E-5 |
8-24255202-G-A
|
p.Asp212Asn |
missense |
ADAMDEC1 |
3 |
79872 |
3.75601E-5 |
39936 |
0 |
NA |
8-24255202-G-C
|
p.Asp212His |
missense |
ADAMDEC1 |
1 |
79872 |
1.252E-5 |
39936 |
0 |
1.66597E-5 |
8-24255211-C-T
|
p.Arg215Trp |
missense |
ADAMDEC1 |
6 |
79920 |
7.50751E-5 |
39960 |
0 |
0.001875 |
8-24255211-C-G
|
p.Arg215Gly |
missense |
ADAMDEC1 |
1 |
79920 |
1.25125E-5 |
39960 |
0 |
NA |
8-24255266-T-C
|
c.690+8T>C |
splice_region |
ADAMDEC1 |
1 |
79918 |
1.25128E-5 |
39959 |
0 |
3.18573E-5 |
8-24256004-T-G
|
p.Tyr234* |
stop_gained |
ADAMDEC1 |
1 |
79166 |
1.26317E-5 |
39583 |
0 |
NA |
8-24256007-T-A
|
p.Asn235Lys |
missense |
ADAMDEC1 |
73 |
79280 |
9.20787E-4 |
39640 |
0 |
0.00352467 |
8-24256014-C-T
|
p.Leu238Leu |
synonymous |
ADAMDEC1 |
1 |
79424 |
1.25907E-5 |
39712 |
0 |
4.05722E-6 |
8-24256024-T-A
|
p.Ile241Lys |
missense |
ADAMDEC1 |
3 |
79548 |
3.77131E-5 |
39774 |
0 |
NA |
8-24256031-C-G
|
p.Ser243Arg |
missense |
ADAMDEC1 |
1 |
79592 |
1.25641E-5 |
39796 |
0 |
NA |
8-24256044-G-A
|
p.Val248Met |
missense |
ADAMDEC1 |
2 |
79612 |
2.51218E-5 |
39806 |
0 |
1.33626E-4 |
8-24256052-C-T
|
p.Asn250Asn |
synonymous |
ADAMDEC1 |
2968 |
79388 |
0.037386 |
39694 |
120 |
0.0616617 |
8-24256389-A-T
|
p.Ile255Ile |
splice_region+synonymous |
ADAMDEC1 |
696 |
80046 |
0.008695 |
40023 |
16 |
0.0175467 |
8-24256390-T-C
|
p.Tyr256His |
missense |
ADAMDEC1 |
2 |
80076 |
2.49763E-5 |
40038 |
0 |
0.00100806 |
8-24256391-A-G
|
p.Tyr256Cys |
missense |
ADAMDEC1 |
2 |
80100 |
2.49688E-5 |
40050 |
0 |
0.00100806 |
8-24256405-G-A
|
p.Val261Ile |
missense |
ADAMDEC1 |
1 |
80186 |
1.2471E-5 |
40093 |
0 |
7.98231E-6 |
8-24256427-T-C
|
p.Met268Thr |
missense |
ADAMDEC1 |
2 |
80300 |
2.49066E-5 |
40150 |
0 |
3.98702E-6 |
8-24256429-G-A
|
p.Glu269Lys |
missense |
ADAMDEC1 |
1 |
80312 |
1.24514E-5 |
40156 |
0 |
NA |
8-24256446-G-C
|
p.Gly274Gly |
synonymous |
ADAMDEC1 |
1 |
80408 |
1.24366E-5 |
40204 |
0 |
8.25137E-6 |
8-24256457-A-T
|
p.Lys278Met |
missense |
ADAMDEC1 |
1 |
80394 |
1.24387E-5 |
40197 |
0 |
3.18532E-5 |
8-24256463-T-C
|
p.Val280Ala |
missense |
ADAMDEC1 |
4 |
80372 |
4.97686E-5 |
40186 |
0 |
2.54874E-4 |
8-24256465-C-T
|
p.Pro281Ser |
missense |
ADAMDEC1 |
2 |
80378 |
2.48824E-5 |
40189 |
0 |
6.37928E-5 |
8-24256470-C-T
|
p.Ser282Ser |
synonymous |
ADAMDEC1 |
31269 |
80072 |
0.390511 |
40036 |
6473 |
0.41375 |
8-24256471-G-A
|
p.Ala283Thr |
missense |
ADAMDEC1 |
2 |
80362 |
2.48874E-5 |
40181 |
0 |
NA |
8-24256482-G-A
|
p.Thr286Thr |
synonymous |
ADAMDEC1 |
9 |
80374 |
1.11977E-4 |
40187 |
0 |
5.41401E-4 |
8-24256483-T-G
|
p.Phe287Val |
missense |
ADAMDEC1 |
1 |
80376 |
1.24415E-5 |
40188 |
0 |
NA |
8-24256490-A-G
|
p.Asn289Ser |
missense |
ADAMDEC1 |
3 |
80370 |
3.73274E-5 |
40185 |
0 |
3.58935E-5 |
8-24256506-C-A
|
p.His294Gln |
missense |
ADAMDEC1 |
7 |
80360 |
8.7108E-5 |
40180 |
0 |
4.39122E-5 |
8-24256512-T-C
|
p.Ser296Ser |
synonymous |
ADAMDEC1 |
710 |
80312 |
0.00884052 |
40156 |
18 |
0.0174952 |
8-24256517-T-C
|
p.Leu298Pro |
missense |
ADAMDEC1 |
1 |
80328 |
1.2449E-5 |
40164 |
0 |
3.18532E-5 |
8-24256517-TG-T
|
p.Lys301fs |
frameshift |
ADAMDEC1 |
1 |
80328 |
1.2449E-5 |
40164 |
0 |
NA |
8-24256519-G-C
|
p.Gly299Arg |
missense |
ADAMDEC1 |
6 |
80330 |
7.46919E-5 |
40165 |
0 |
NA |
8-24256523-A-G
|
p.Lys300Arg |
missense |
ADAMDEC1 |
1 |
80320 |
1.24502E-5 |
40160 |
0 |
8.28295E-5 |
8-24256527-G-C
|
p.Lys301Asn |
missense |
ADAMDEC1 |
3 |
80298 |
3.73608E-5 |
40149 |
0 |
NA |
8-24256531-C-T
|
p.His303Tyr |
missense |
ADAMDEC1 |
6 |
80286 |
7.47328E-5 |
40143 |
0 |
4.80157E-5 |
8-24256533-C-T
|
p.His303His |
synonymous |
ADAMDEC1 |
7 |
80262 |
8.72144E-5 |
40131 |
0 |
0.00204708 |
8-24256535-A-G
|
p.Asp304Gly |
missense |
ADAMDEC1 |
4 |
80234 |
4.98542E-5 |
40117 |
0 |
6.25E-4 |
8-24256538-A-T
|
p.His305Leu |
missense |
ADAMDEC1 |
2 |
80258 |
2.49196E-5 |
40129 |
0 |
NA |
8-24256546-C-T
|
p.Leu308Phe |
missense |
ADAMDEC1 |
1 |
80212 |
1.2467E-5 |
40106 |
0 |
NA |
8-24256548-T-C
|
p.Leu308Leu |
synonymous |
ADAMDEC1 |
1 |
80202 |
1.24685E-5 |
40101 |
0 |
NA |
8-24256558-G-C
|
c.929+5G>C |
splice_region |
ADAMDEC1 |
1 |
80138 |
1.24785E-5 |
40069 |
0 |
NA |
8-24256898-T-C
|
c.930-8T>C |
splice_region |
ADAMDEC1 |
1 |
80776 |
1.23799E-5 |
40388 |
0 |
NA |
8-24256902-A-G
|
c.930-4A>G |
splice_region |
ADAMDEC1 |
6 |
80804 |
7.42538E-5 |
40402 |
0 |
5.17425E-5 |
8-24256928-C-T
|
p.Arg318Cys |
missense |
ADAMDEC1 |
3 |
80880 |
3.7092E-5 |
40440 |
0 |
7.95792E-6 |
8-24256929-G-T
|
p.Arg318Leu |
missense |
ADAMDEC1 |
1 |
80898 |
1.23612E-5 |
40449 |
0 |
NA |
8-24256929-G-A
|
p.Arg318His |
missense |
ADAMDEC1 |
2 |
80898 |
2.47225E-5 |
40449 |
0 |
4.94535E-5 |
8-24256930-T-C
|
p.Arg318Arg |
synonymous |
ADAMDEC1 |
228 |
80896 |
0.00281843 |
40448 |
1 |
0.0026118 |
8-24256950-A-G
|
p.Asn325Ser |
missense |
ADAMDEC1 |
1 |
80920 |
1.23579E-5 |
40460 |
0 |
NA |
8-24256953-C-T
|
p.Ser326Phe |
missense |
ADAMDEC1 |
1 |
80910 |
1.23594E-5 |
40455 |
0 |
NA |
8-24256953-C-G
|
p.Ser326Cys |
missense |
ADAMDEC1 |
2 |
80910 |
2.47188E-5 |
40455 |
0 |
3.18492E-5 |
8-24256968-C-T
|
p.Ser331Phe |
missense |
ADAMDEC1 |
6 |
80870 |
7.41932E-5 |
40435 |
0 |
1.64891E-5 |
8-24256969-T-C
|
p.Ser331Ser |
synonymous |
ADAMDEC1 |
1 |
80864 |
1.23664E-5 |
40432 |
0 |
8.24498E-6 |
8-24256971-C-T
|
p.Ser332Leu |
missense |
ADAMDEC1 |
2 |
80842 |
2.47396E-5 |
40421 |
0 |
2.78485E-5 |
8-24256972-G-A
|
p.Ser332Ser |
synonymous |
ADAMDEC1 |
2 |
80834 |
2.47421E-5 |
40417 |
0 |
3.18756E-5 |
8-24257676-T-C
|
c.1012-7T>C |
splice_region |
ADAMDEC1 |
1 |
79492 |
1.25799E-5 |
39746 |
0 |
NA |
8-24257678-T-C
|
c.1012-5T>C |
splice_region |
ADAMDEC1 |
3 |
79548 |
3.77131E-5 |
39774 |
0 |
4.59918E-5 |
8-24257679-C-G
|
c.1012-4C>G |
splice_region |
ADAMDEC1 |
3 |
79566 |
3.77045E-5 |
39783 |
0 |
NA |
8-24257685-TA-T
|
p.Lys341fs |
frameshift |
ADAMDEC1 |
1 |
79716 |
1.25445E-5 |
39858 |
0 |
1.70184E-4 |
8-24257687-A-G
|
p.Lys339Arg |
missense |
ADAMDEC1 |
1 |
79850 |
1.25235E-5 |
39925 |
0 |
NA |
8-24257690-A-G
|
p.Lys340Arg |
missense |
ADAMDEC1 |
1 |
79898 |
1.2516E-5 |
39949 |
0 |
NA |
8-24257705-C-T
|
p.Ala345Val |
missense |
ADAMDEC1 |
1 |
80180 |
1.24719E-5 |
40090 |
0 |
1.27516E-5 |
8-24257709-T-G
|
p.Leu346Leu |
synonymous |
ADAMDEC1 |
48 |
80384 |
5.97134E-4 |
40192 |
0 |
0.004375 |
8-24257731-C-G
|
p.Leu354Val |
missense |
ADAMDEC1 |
1 |
80630 |
1.24023E-5 |
40315 |
0 |
NA |
8-24257738-A-T
|
p.His356Leu |
missense |
ADAMDEC1 |
1 |
80664 |
1.23971E-5 |
40332 |
0 |
8.34543E-6 |
8-24257744-T-G
|
p.Leu358Arg |
missense |
ADAMDEC1 |
1 |
80698 |
1.23919E-5 |
40349 |
0 |
NA |
8-24257750-T-C
|
p.Met360Thr |
missense |
ADAMDEC1 |
1 |
80684 |
1.2394E-5 |
40342 |
0 |
NA |
8-24257760-T-A
|
p.Val363Val |
synonymous |
ADAMDEC1 |
1 |
80692 |
1.23928E-5 |
40346 |
0 |
NA |
8-24257768-A-T
|
p.Asn366Ile |
missense |
ADAMDEC1 |
5 |
80698 |
6.19594E-5 |
40349 |
0 |
1.27405E-4 |
8-24257771-CCA-C
|
p.Lys368fs |
frameshift |
ADAMDEC1 |
1 |
80688 |
1.23934E-5 |
40344 |
0 |
8.27513E-6 |
8-24257777-G-A
|
p.Cys369Tyr |
missense |
ADAMDEC1 |
8 |
80670 |
9.91695E-5 |
40335 |
0 |
3.18654E-5 |
8-24257787-C-T
|
p.Gly372Gly |
synonymous |
ADAMDEC1 |
1 |
80636 |
1.24014E-5 |
40318 |
0 |
NA |
8-24257789-G-C
|
p.Ser373Thr |
missense |
ADAMDEC1 |
1 |
80620 |
1.24039E-5 |
40310 |
0 |
4.01352E-6 |
8-24257792-G-T
|
p.Cys374Phe |
missense |
ADAMDEC1 |
1 |
80604 |
1.24063E-5 |
40302 |
0 |
NA |
8-24257805-G-A
|
p.Gln378Gln |
synonymous |
ADAMDEC1 |
4 |
80574 |
4.96438E-5 |
40287 |
0 |
6.25E-4 |
8-24257820-C-A
|
c.1142+7C>A |
splice_region |
ADAMDEC1 |
2 |
80314 |
2.49023E-5 |
40157 |
0 |
4.96862E-5 |
8-24259427-G-A
|
c.1143-1G>A |
splice_acceptor |
ADAMDEC1 |
1 |
79790 |
1.25329E-5 |
39895 |
0 |
8.5454E-6 |
8-24259454-C-T
|
p.Thr390Ile |
missense |
ADAMDEC1 |
2 |
80052 |
2.49838E-5 |
40026 |
0 |
1.66694E-5 |
8-24259462-C-T
|
p.Arg393Cys |
missense |
ADAMDEC1 |
3 |
80096 |
3.74551E-5 |
40048 |
0 |
3.18552E-5 |
8-24259471-T-C
|
p.Phe396Leu |
missense |
ADAMDEC1 |
1 |
80180 |
1.24719E-5 |
40090 |
0 |
NA |
8-24259479-A-C
|
p.Arg398Ser |
missense |
ADAMDEC1 |
1 |
80218 |
1.2466E-5 |
40109 |
0 |
1.65607E-5 |
8-24259482-C-T
|
p.Tyr399Tyr |
synonymous |
ADAMDEC1 |
16 |
80244 |
1.99392E-4 |
40122 |
0 |
3.18573E-5 |
8-24259482-C-A
|
p.Tyr399* |
stop_gained |
ADAMDEC1 |
2 |
80244 |
2.4924E-5 |
40122 |
0 |
3.18573E-5 |
8-24259499-CA-C
|
p.Lys406fs |
frameshift |
ADAMDEC1 |
1 |
80310 |
1.24517E-5 |
40155 |
0 |
NA |
8-24259507-C-T
|
p.Leu408Leu |
synonymous |
ADAMDEC1 |
3 |
80334 |
3.73441E-5 |
40167 |
0 |
4.78763E-5 |
8-24259508-T-C
|
p.Leu408Pro |
missense |
ADAMDEC1 |
2 |
80330 |
2.48973E-5 |
40165 |
0 |
7.97849E-6 |
8-24259516-G-T
|
p.Ala411Ser |
missense |
ADAMDEC1 |
2 |
80356 |
2.48892E-5 |
40178 |
0 |
NA |
8-24259521-T-C
|
p.Pro412Pro |
synonymous |
ADAMDEC1 |
2 |
80368 |
2.48855E-5 |
40184 |
0 |
NA |
8-24259522-A-G
|
p.Ile413Val |
missense |
ADAMDEC1 |
6 |
80378 |
7.46473E-5 |
40189 |
0 |
2.89132E-4 |
8-24259541-C-T
|
p.Thr419Ile |
missense |
ADAMDEC1 |
1 |
80392 |
1.2439E-5 |
40196 |
0 |
NA |
8-24259546-C-T
|
p.Pro421Ser |
missense |
ADAMDEC1 |
269 |
80392 |
0.0033461 |
40196 |
1 |
0.00340333 |
8-24259559-A-T
|
p.Asn425Ile |
missense |
ADAMDEC1 |
9 |
80388 |
1.11957E-4 |
40194 |
0 |
1.15651E-4 |
8-24259564-C-T
|
p.Leu427Phe |
missense |
ADAMDEC1 |
1 |
80382 |
1.24406E-5 |
40191 |
0 |
NA |
8-24259583-A-G
|
p.Asp433Gly |
missense |
ADAMDEC1 |
1 |
80354 |
1.24449E-5 |
40177 |
0 |
NA |
8-24259600-C-T
|
p.Pro439Ser |
missense |
ADAMDEC1 |
600 |
80266 |
0.00747515 |
40133 |
11 |
0.0145578 |
8-24259606-G-T
|
c.1320+1G>T |
splice_donor |
ADAMDEC1 |
1 |
80206 |
1.24679E-5 |
40103 |
0 |
NA |
8-24261517-AGT-A
|
p.Cys442fs |
frameshift |
ADAMDEC1 |
1 |
80782 |
1.2379E-5 |
40391 |
0 |
NA |
8-24261518-G-A
|
p.Glu441Glu |
splice_region+synonymous |
ADAMDEC1 |
707 |
80782 |
0.00875195 |
40391 |
18 |
0.0173689 |
8-24261526-A-G
|
p.Asn444Ser |
missense |
ADAMDEC1 |
31715 |
80524 |
0.393858 |
40262 |
6609 |
0.416875 |
8-24261526-A-T
|
p.Asn444Ile |
missense |
ADAMDEC1 |
1 |
80806 |
1.23753E-5 |
40403 |
0 |
8.26884E-6 |
8-24261536-T-A
|
p.Cys447* |
stop_gained |
ADAMDEC1 |
1 |
80836 |
1.23707E-5 |
40418 |
0 |
NA |
8-24261547-C-T
|
p.Thr451Met |
missense |
ADAMDEC1 |
538 |
80860 |
0.00665348 |
40430 |
4 |
0.00879597 |
8-24261565-G-C
|
p.Gly457Ala |
missense |
ADAMDEC1 |
1 |
80870 |
1.23655E-5 |
40435 |
0 |
NA |
8-24261575-CGGA-C
|
p.Gly462del |
disruptive_inframe_deletion |
ADAMDEC1 |
1 |
80820 |
1.23732E-5 |
40410 |
0 |
NA |
8-24261575-C-T
|
p.Cys460Cys |
synonymous |
ADAMDEC1 |
2 |
80820 |
2.47464E-5 |
40410 |
0 |
1.5941E-5 |
8-24261576-G-A
|
p.Gly461Arg |
missense |
ADAMDEC1 |
8 |
80818 |
9.89878E-5 |
40409 |
0 |
1.27437E-4 |
8-24261601-C-A
|
p.Thr469Lys |
missense+splice_region |
ADAMDEC1 |
2 |
80650 |
2.47985E-5 |
40325 |
0 |
1.20414E-5 |
8-24261602-G-C
|
c.1406+1G>C |
splice_donor |
ADAMDEC1 |
3 |
80626 |
3.72088E-5 |
40313 |
0 |
NA |
8-24261602-G-A
|
c.1406+1G>A |
splice_donor |
ADAMDEC1 |
4 |
80624 |
4.9613E-5 |
40312 |
0 |
6.37105E-5 |
8-24261604-A-G
|
c.1406+3A>G |
splice_region |
ADAMDEC1 |
1 |
80624 |
1.24033E-5 |
40312 |
0 |
8.44081E-6 |
8-24261608-C-A
|
c.1406+7C>A |
splice_region |
ADAMDEC1 |
1 |
80572 |
1.24113E-5 |
40286 |
0 |
NA |
8-24262800-A-G
|
c.1407-5A>G |
splice_region |
ADAMDEC1 |
20 |
80176 |
2.49451E-4 |
40088 |
0 |
5.42023E-4 |
8-24262804-G-A
|
c.1407-1G>A |
splice_acceptor |
ADAMDEC1 |
11 |
80208 |
1.37143E-4 |
40104 |
0 |
3.50832E-4 |
8-24262959-T-A
|
n.153+2T>A |
splice_donor |
ADAMDEC1 |
1 |
73602 |
1.35866E-5 |
36801 |
0 |
NA |
8-24263033-C-CT
|
n.154-5dupT |
splice_region |
ADAMDEC1 |
9 |
49726 |
1.80992E-4 |
24863 |
0 |
1.8997E-4 |
8-24263033-CT-C
|
n.154-5delT |
splice_region |
ADAMDEC1 |
1 |
49728 |
2.01094E-5 |
24864 |
0 |
NA |
8-24263046-G-C
|
n.154-1G>C |
splice_acceptor |
ADAMDEC1 |
2 |
44788 |
4.46548E-5 |
22394 |
0 |
NA |