1-145471549-A-C
|
c.-894-4A>C |
splice_region |
ANKRD34A |
994 |
994 |
1.0 |
497 |
497 |
1.0 |
1-145471780-G-GT
|
c.-667_-667+1insT |
splice_donor |
ANKRD34A |
1 |
2956 |
3.38295E-4 |
1478 |
0 |
NA |
1-145472183-G-A
|
c.-605G>A |
5_prime_UTR_premature_start_codon_gain |
ANKRD34A |
4 |
2946 |
0.00135777 |
1473 |
0 |
1.59246E-4 |
1-145472280-T-C
|
c.-508T>C |
5_prime_UTR_premature_start_codon_gain |
ANKRD34A |
1 |
2952 |
3.38753E-4 |
1476 |
0 |
3.18735E-5 |
1-145473295-C-T
|
c.-34C>T |
5_prime_UTR_premature_start_codon_gain |
ANKRD34A |
2 |
77664 |
2.5752E-5 |
38832 |
0 |
3.85368E-5 |
1-145473313-C-T
|
c.-16C>T |
5_prime_UTR_premature_start_codon_gain |
ANKRD34A |
1 |
78522 |
1.27353E-5 |
39261 |
0 |
NA |
1-145473340-C-T
|
p.Thr4Thr |
synonymous |
ANKRD34A |
3 |
79446 |
3.77615E-5 |
39723 |
0 |
3.72342E-5 |
1-145473351-C-G
|
p.Ala8Gly |
missense |
ANKRD34A |
1 |
79724 |
1.25433E-5 |
39862 |
0 |
NA |
1-145473367-G-A
|
p.Val13Val |
synonymous |
ANKRD34A |
1 |
79966 |
1.25053E-5 |
39983 |
0 |
NA |
1-145473373-G-T
|
p.Gln15His |
missense |
ANKRD34A |
1 |
80004 |
1.24994E-5 |
40002 |
0 |
NA |
1-145473376-T-C
|
p.Gly16Gly |
synonymous |
ANKRD34A |
1 |
79998 |
1.25003E-5 |
39999 |
0 |
NA |
1-145473471-C-T
|
p.Ala48Val |
missense |
ANKRD34A |
3 |
80166 |
3.74223E-5 |
40083 |
0 |
8.47357E-6 |
1-145473481-C-G
|
p.Asp51Glu |
missense |
ANKRD34A |
1 |
80234 |
1.24635E-5 |
40117 |
0 |
NA |
1-145473493-C-CA
|
p.Ala57fs |
frameshift |
ANKRD34A |
1 |
80292 |
1.24545E-5 |
40146 |
0 |
NA |
1-145473501-G-T
|
p.Arg58Leu |
missense |
ANKRD34A |
1 |
80290 |
1.24549E-5 |
40145 |
0 |
NA |
1-145473509-C-G
|
p.Arg61Gly |
missense |
ANKRD34A |
1 |
80296 |
1.24539E-5 |
40148 |
0 |
1.0376E-4 |
1-145473523-G-A
|
p.Glu65Glu |
synonymous |
ANKRD34A |
1 |
80304 |
1.24527E-5 |
40152 |
0 |
6.3743E-5 |
1-145473529-C-G
|
p.Gly67Gly |
synonymous |
ANKRD34A |
21 |
80262 |
2.61643E-4 |
40131 |
0 |
2.8688E-4 |
1-145473562-C-T
|
p.Arg78Arg |
synonymous |
ANKRD34A |
1 |
79998 |
1.25003E-5 |
39999 |
0 |
NA |
1-145473567-C-G
|
p.Ala80Gly |
missense |
ANKRD34A |
9 |
79898 |
1.12644E-4 |
39949 |
0 |
4.61055E-6 |
1-145473592-TG-T
|
p.Gly90fs |
frameshift |
ANKRD34A |
1 |
79208 |
1.2625E-5 |
39604 |
0 |
4.72451E-6 |
1-145473597-G-A
|
p.Gly90Asp |
missense |
ANKRD34A |
1 |
79124 |
1.26384E-5 |
39562 |
0 |
3.30807E-5 |
1-145473598-C-A
|
p.Gly90Gly |
synonymous |
ANKRD34A |
5 |
79108 |
6.32047E-5 |
39554 |
0 |
1.38172E-4 |
1-145473598-C-T
|
p.Gly90Gly |
synonymous |
ANKRD34A |
1 |
79108 |
1.26409E-5 |
39554 |
0 |
9.44796E-6 |
1-145473604-G-A
|
p.Ala92Ala |
synonymous |
ANKRD34A |
2 |
79118 |
2.52787E-5 |
39559 |
0 |
3.18918E-5 |
1-145473604-G-T
|
p.Ala92Ala |
synonymous |
ANKRD34A |
1 |
79118 |
1.26393E-5 |
39559 |
0 |
NA |
1-145473631-C-G
|
p.Gly101Gly |
synonymous |
ANKRD34A |
1 |
78748 |
1.26987E-5 |
39374 |
0 |
NA |
1-145473633-C-G
|
p.Ala102Gly |
missense |
ANKRD34A |
1 |
78754 |
1.26978E-5 |
39377 |
0 |
NA |
1-145473638-C-T
|
p.Pro104Ser |
missense |
ANKRD34A |
1 |
78856 |
1.26813E-5 |
39428 |
0 |
NA |
1-145473640-C-T
|
p.Pro104Pro |
synonymous |
ANKRD34A |
1 |
78846 |
1.2683E-5 |
39423 |
0 |
NA |
1-145473653-C-A
|
p.His109Asn |
missense |
ANKRD34A |
5 |
78806 |
6.34469E-5 |
39403 |
0 |
NA |
1-145473661-C-T
|
p.Gly111Gly |
synonymous |
ANKRD34A |
1 |
78674 |
1.27107E-5 |
39337 |
0 |
NA |
1-145473686-G-C
|
p.Asp120His |
missense |
ANKRD34A |
1 |
78926 |
1.26701E-5 |
39463 |
0 |
8.57574E-6 |
1-145473693-G-C
|
p.Gly122Ala |
missense |
ANKRD34A |
2 |
79000 |
2.53165E-5 |
39500 |
0 |
NA |
1-145473712-C-T
|
p.Ala128Ala |
synonymous |
ANKRD34A |
1 |
79466 |
1.2584E-5 |
39733 |
0 |
NA |
1-145473722-G-A
|
p.Asp132Asn |
missense |
ANKRD34A |
1 |
79582 |
1.25657E-5 |
39791 |
0 |
4.00901E-6 |
1-145473725-G-A
|
p.Ala133Thr |
missense |
ANKRD34A |
1 |
79598 |
1.25631E-5 |
39799 |
0 |
NA |
1-145473725-G-C
|
p.Ala133Pro |
missense |
ANKRD34A |
1 |
79598 |
1.25631E-5 |
39799 |
0 |
NA |
1-145473730-C-T
|
p.Cys134Cys |
synonymous |
ANKRD34A |
3 |
79806 |
3.75912E-5 |
39903 |
0 |
4.00275E-6 |
1-145473751-C-G
|
p.Val141Val |
synonymous |
ANKRD34A |
2 |
80244 |
2.4924E-5 |
40122 |
0 |
3.18979E-5 |
1-145473826-A-C
|
p.Pro166Pro |
synonymous |
ANKRD34A |
7 |
80584 |
8.68659E-5 |
40292 |
0 |
3.51191E-4 |
1-145473848-G-A
|
p.Ala174Thr |
missense |
ANKRD34A |
1 |
80566 |
1.24122E-5 |
40283 |
0 |
NA |
1-145473863-G-C
|
p.Gly179Arg |
missense |
ANKRD34A |
1 |
80588 |
1.24088E-5 |
40294 |
0 |
NA |
1-145473865-G-T
|
p.Gly179Gly |
synonymous |
ANKRD34A |
2 |
80592 |
2.48164E-5 |
40296 |
0 |
NA |
1-145473871-C-T
|
p.Cys181Cys |
synonymous |
ANKRD34A |
1 |
80588 |
1.24088E-5 |
40294 |
0 |
NA |
1-145473874-G-T
|
p.Thr182Thr |
synonymous |
ANKRD34A |
1 |
80578 |
1.24103E-5 |
40289 |
0 |
1.19512E-5 |
1-145473877-G-A
|
p.Ser183Ser |
synonymous |
ANKRD34A |
1 |
80574 |
1.2411E-5 |
40287 |
0 |
1.65579E-5 |
1-145473883-G-T
|
p.Ser185Ser |
synonymous |
ANKRD34A |
1 |
80624 |
1.24033E-5 |
40312 |
0 |
NA |
1-145473892-A-G
|
p.Gln188Gln |
synonymous |
ANKRD34A |
1 |
80676 |
1.23953E-5 |
40338 |
0 |
0.00100705 |
1-145473904-T-C
|
p.Ala192Ala |
synonymous |
ANKRD34A |
2 |
80704 |
2.47819E-5 |
40352 |
0 |
1.65418E-5 |
1-145473904-TGGA-T
|
p.Gly196del |
disruptive_inframe_deletion |
ANKRD34A |
3 |
80702 |
3.71738E-5 |
40351 |
0 |
3.18857E-5 |
1-145473949-A-G
|
p.Glu207Glu |
synonymous |
ANKRD34A |
10 |
80748 |
1.23842E-4 |
40374 |
0 |
3.18878E-5 |
1-145473962-G-A
|
p.Asp212Asn |
missense |
ANKRD34A |
1 |
80602 |
1.24066E-5 |
40301 |
0 |
NA |
1-145473973-A-G
|
p.Glu215Glu |
synonymous |
ANKRD34A |
1 |
80608 |
1.24057E-5 |
40304 |
0 |
NA |
1-145474034-C-T
|
p.Arg236Cys |
missense |
ANKRD34A |
1 |
80696 |
1.23922E-5 |
40348 |
0 |
1.66276E-5 |
1-145474050-C-A
|
p.Pro241Gln |
missense |
ANKRD34A |
19 |
80744 |
2.35312E-4 |
40372 |
0 |
4.1425E-4 |
1-145474086-T-G
|
p.Val253Gly |
missense |
ANKRD34A |
1 |
80372 |
1.24421E-5 |
40186 |
0 |
NA |
1-145474088-G-A
|
p.Ala254Thr |
missense |
ANKRD34A |
5 |
80306 |
6.22618E-5 |
40153 |
0 |
1.276E-4 |
1-145474093-T-C
|
p.Pro255Pro |
synonymous |
ANKRD34A |
1 |
80404 |
1.24372E-5 |
40202 |
0 |
8.33375E-6 |
1-145474100-C-T
|
p.Pro258Ser |
missense |
ANKRD34A |
1 |
80340 |
1.24471E-5 |
40170 |
0 |
NA |
1-145474104-T-C
|
p.Val259Ala |
missense |
ANKRD34A |
1 |
80294 |
1.24542E-5 |
40147 |
0 |
8.33653E-6 |
1-145474112-A-C
|
p.Thr262Pro |
missense |
ANKRD34A |
1 |
80320 |
1.24502E-5 |
40160 |
0 |
3.98702E-6 |
1-145474124-C-G
|
p.Pro266Ala |
missense |
ANKRD34A |
10 |
80212 |
1.2467E-4 |
40106 |
0 |
2.23115E-4 |
1-145474124-C-A
|
p.Pro266Thr |
missense |
ANKRD34A |
1 |
80212 |
1.2467E-5 |
40106 |
0 |
3.98785E-6 |
1-145474126-G-C
|
p.Pro266Pro |
synonymous |
ANKRD34A |
2 |
80222 |
2.49308E-5 |
40111 |
0 |
0.00100705 |
1-145474131-T-C
|
p.Ile268Thr |
missense |
ANKRD34A |
1 |
80154 |
1.2476E-5 |
40077 |
0 |
9.57426E-5 |
1-145474136-C-T
|
p.Arg270Cys |
missense |
ANKRD34A |
3 |
80066 |
3.74691E-5 |
40033 |
0 |
2.50225E-5 |
1-145474145-G-A
|
p.Ala273Thr |
missense |
ANKRD34A |
2 |
79998 |
2.50006E-5 |
39999 |
0 |
0.00100705 |
1-145474171-C-T
|
p.Thr281Thr |
synonymous |
ANKRD34A |
3 |
79972 |
3.75131E-5 |
39986 |
0 |
0.00100705 |
1-145474172-G-T
|
p.Gly282Cys |
missense |
ANKRD34A |
2 |
79974 |
2.50081E-5 |
39987 |
0 |
NA |
1-145474172-G-A
|
p.Gly282Ser |
missense |
ANKRD34A |
2 |
79974 |
2.50081E-5 |
39987 |
0 |
6.37389E-5 |
1-145474180-C-T
|
p.Pro284Pro |
synonymous |
ANKRD34A |
1 |
80084 |
1.24869E-5 |
40042 |
0 |
NA |
1-145474180-C-G
|
p.Pro284Pro |
synonymous |
ANKRD34A |
1 |
80084 |
1.24869E-5 |
40042 |
0 |
NA |
1-145474181-C-G
|
p.Arg285Gly |
missense |
ANKRD34A |
7 |
80110 |
8.73799E-5 |
40055 |
0 |
3.19857E-5 |
1-145474182-G-A
|
p.Arg285His |
missense |
ANKRD34A |
1 |
80106 |
1.24835E-5 |
40053 |
0 |
NA |
1-145474189-C-T
|
p.Ser287Ser |
synonymous |
ANKRD34A |
1 |
80172 |
1.24732E-5 |
40086 |
0 |
NA |
1-145474194-G-A
|
p.Arg289His |
missense |
ANKRD34A |
1 |
80210 |
1.24673E-5 |
40105 |
0 |
NA |
1-145474204-C-G
|
p.Thr292Thr |
synonymous |
ANKRD34A |
2 |
80318 |
2.4901E-5 |
40159 |
0 |
NA |
1-145474210-C-A
|
p.Gly294Gly |
synonymous |
ANKRD34A |
10 |
80382 |
1.24406E-4 |
40191 |
0 |
1.00854E-4 |
1-145474211-C-T
|
p.Pro295Ser |
missense |
ANKRD34A |
1 |
80430 |
1.24332E-5 |
40215 |
0 |
8.40209E-6 |
1-145474219-C-T
|
p.Asp297Asp |
synonymous |
ANKRD34A |
2 |
80448 |
2.48608E-5 |
40224 |
0 |
2.23058E-4 |
1-145474240-A-G
|
p.Lys304Lys |
synonymous |
ANKRD34A |
1 |
80674 |
1.23956E-5 |
40337 |
0 |
3.18654E-5 |
1-145474243-G-A
|
p.Val305Val |
synonymous |
ANKRD34A |
1 |
80690 |
1.23931E-5 |
40345 |
0 |
NA |
1-145474249-C-T
|
p.Ser307Ser |
synonymous |
ANKRD34A |
1 |
80698 |
1.23919E-5 |
40349 |
0 |
8.37549E-6 |
1-145474250-G-C
|
p.Gly308Arg |
missense |
ANKRD34A |
1 |
80724 |
1.23879E-5 |
40362 |
0 |
7.5276E-5 |
1-145474259-C-G
|
p.Leu311Val |
missense |
ANKRD34A |
1 |
80760 |
1.23824E-5 |
40380 |
0 |
0.00151057 |
1-145474260-T-A
|
p.Leu311His |
missense |
ANKRD34A |
1 |
80754 |
1.23833E-5 |
40377 |
0 |
NA |
1-145474282-A-G
|
p.Pro318Pro |
synonymous |
ANKRD34A |
1 |
80824 |
1.23726E-5 |
40412 |
0 |
NA |
1-145474283-G-C
|
p.Glu319Gln |
missense |
ANKRD34A |
2 |
80818 |
2.4747E-5 |
40409 |
0 |
NA |
1-145474295-T-C
|
p.Ser323Pro |
missense |
ANKRD34A |
2 |
80818 |
2.4747E-5 |
40409 |
0 |
4.14051E-5 |
1-145474300-T-G
|
p.Gly324Gly |
synonymous |
ANKRD34A |
1 |
80816 |
1.23738E-5 |
40408 |
0 |
NA |
1-145474301-C-A
|
p.Pro325Thr |
missense |
ANKRD34A |
5 |
80834 |
6.18552E-5 |
40417 |
0 |
8.28089E-5 |
1-145474303-C-G
|
p.Pro325Pro |
synonymous |
ANKRD34A |
3 |
80840 |
3.71103E-5 |
40420 |
0 |
1.19393E-5 |
1-145474306-T-G
|
p.Pro326Pro |
synonymous |
ANKRD34A |
2 |
80836 |
2.47415E-5 |
40418 |
0 |
5.03525E-4 |
1-145474314-T-C
|
p.Leu329Pro |
missense |
ANKRD34A |
1 |
80806 |
1.23753E-5 |
40403 |
0 |
NA |
1-145474332-G-T
|
p.Arg335Leu |
missense |
ANKRD34A |
4 |
80694 |
4.957E-5 |
40347 |
0 |
1.40759E-4 |
1-145474340-C-G
|
p.Pro338Ala |
missense |
ANKRD34A |
1 |
80646 |
1.23999E-5 |
40323 |
0 |
NA |
1-145474342-A-C
|
p.Pro338Pro |
synonymous |
ANKRD34A |
4 |
80626 |
4.96118E-5 |
40313 |
0 |
3.31356E-5 |
1-145474342-A-G
|
p.Pro338Pro |
synonymous |
ANKRD34A |
1 |
80626 |
1.24029E-5 |
40313 |
0 |
NA |
1-145474371-G-A
|
p.Cys348Tyr |
missense |
ANKRD34A |
1 |
79918 |
1.25128E-5 |
39959 |
0 |
NA |
1-145474374-C-T
|
p.Pro349Leu |
missense |
ANKRD34A |
1 |
79860 |
1.25219E-5 |
39930 |
0 |
NA |
1-145474403-C-T
|
p.Leu359Leu |
synonymous |
ANKRD34A |
2 |
79534 |
2.51465E-5 |
39767 |
0 |
NA |
1-145474425-C-G
|
p.Ala366Gly |
missense |
ANKRD34A |
1 |
79578 |
1.25663E-5 |
39789 |
0 |
1.66738E-5 |
1-145474431-C-G
|
p.Pro368Arg |
missense |
ANKRD34A |
1 |
79504 |
1.2578E-5 |
39752 |
0 |
1.79649E-5 |
1-145474444-T-G
|
p.Pro372Pro |
synonymous |
ANKRD34A |
3 |
79056 |
3.79478E-5 |
39528 |
0 |
8.66829E-6 |
1-145474446-C-T
|
p.Pro373Leu |
missense |
ANKRD34A |
1 |
79086 |
1.26445E-5 |
39543 |
0 |
9.49523E-6 |
1-145474470-G-A
|
p.Arg381His |
missense |
ANKRD34A |
2 |
77976 |
2.56489E-5 |
38988 |
0 |
NA |
1-145474488-T-G
|
p.Leu387Arg |
missense |
ANKRD34A |
1 |
77484 |
1.29059E-5 |
38742 |
0 |
NA |
1-145474500-T-C
|
p.Val391Ala |
missense |
ANKRD34A |
1 |
76820 |
1.30174E-5 |
38410 |
0 |
NA |
1-145474501-A-G
|
p.Val391Val |
synonymous |
ANKRD34A |
2 |
76726 |
2.60668E-5 |
38363 |
0 |
NA |
1-145474504-T-A
|
p.Ser392Ser |
synonymous |
ANKRD34A |
1 |
76556 |
1.30623E-5 |
38278 |
0 |
6.37105E-5 |
1-145474516-A-C
|
p.Gly396Gly |
synonymous |
ANKRD34A |
1 |
75714 |
1.32076E-5 |
37857 |
0 |
NA |
1-145474517-A-G
|
p.Arg397Gly |
missense |
ANKRD34A |
2 |
75688 |
2.64243E-5 |
37844 |
0 |
1.48894E-5 |
1-145474527-G-A
|
p.Ser400Asn |
missense |
ANKRD34A |
10 |
74642 |
1.33973E-4 |
37321 |
0 |
1.27988E-4 |
1-145474532-G-A
|
p.Gly402Arg |
missense |
ANKRD34A |
1 |
74184 |
1.348E-5 |
37092 |
0 |
NA |
1-145474532-G-C
|
p.Gly402Arg |
missense |
ANKRD34A |
1 |
74184 |
1.348E-5 |
37092 |
0 |
NA |
1-145474561-G-C
|
p.Thr411Thr |
synonymous |
ANKRD34A |
1 |
71712 |
1.39447E-5 |
35856 |
0 |
1.91707E-5 |
1-145474570-G-A
|
p.Leu414Leu |
synonymous |
ANKRD34A |
1 |
71656 |
1.39556E-5 |
35828 |
0 |
NA |
1-145474588-G-A
|
p.Thr420Thr |
synonymous |
ANKRD34A |
28 |
70694 |
3.96073E-4 |
35347 |
0 |
0.00114657 |
1-145474624-C-T
|
p.Pro432Pro |
synonymous |
ANKRD34A |
1 |
71034 |
1.40778E-5 |
35517 |
0 |
NA |
1-145474629-C-T
|
p.Pro434Leu |
missense |
ANKRD34A |
1 |
71260 |
1.40331E-5 |
35630 |
0 |
NA |
1-145474632-C-G
|
p.Pro435Arg |
missense |
ANKRD34A |
2 |
71472 |
2.7983E-5 |
35736 |
0 |
NA |
1-145474652-C-T
|
p.Gln442* |
stop_gained |
ANKRD34A |
1 |
73000 |
1.36986E-5 |
36500 |
0 |
NA |
1-145474675-G-A
|
p.Ser449Ser |
synonymous |
ANKRD34A |
6 |
75444 |
7.95292E-5 |
37722 |
1 |
2.86953E-4 |
1-145474677-T-C
|
p.Leu450Ser |
missense |
ANKRD34A |
1 |
75962 |
1.31645E-5 |
37981 |
0 |
4.03301E-6 |
1-145474679-C-T
|
p.Pro451Ser |
missense |
ANKRD34A |
1 |
76024 |
1.31537E-5 |
38012 |
0 |
NA |
1-145474681-T-C
|
p.Pro451Pro |
synonymous |
ANKRD34A |
6 |
76494 |
7.84375E-5 |
38247 |
0 |
1.61232E-5 |
1-145474682-G-A
|
p.Ala452Thr |
missense |
ANKRD34A |
1 |
76512 |
1.30698E-5 |
38256 |
0 |
8.71961E-6 |
1-145474686-C-T
|
p.Pro453Leu |
missense |
ANKRD34A |
1 |
76950 |
1.29955E-5 |
38475 |
0 |
3.18654E-5 |
1-145474693-T-C
|
p.Tyr455Tyr |
synonymous |
ANKRD34A |
5 |
77304 |
6.46797E-5 |
38652 |
0 |
5.03525E-4 |
1-145474700-G-A
|
p.Ala458Thr |
missense |
ANKRD34A |
4 |
77418 |
5.16676E-5 |
38709 |
0 |
0.00151057 |
1-145474707-G-T
|
p.Gly460Val |
missense |
ANKRD34A |
3 |
78028 |
3.84477E-5 |
39014 |
0 |
2.81556E-5 |
1-145474717-G-A
|
p.Arg463Arg |
synonymous |
ANKRD34A |
3 |
78544 |
3.81952E-5 |
39272 |
0 |
2.61078E-5 |
1-145474720-C-T
|
p.Thr464Thr |
synonymous |
ANKRD34A |
2 |
78638 |
2.5433E-5 |
39319 |
1 |
8.0349E-6 |
1-145474725-G-A
|
p.Arg466His |
missense |
ANKRD34A |
1 |
78760 |
1.26968E-5 |
39380 |
0 |
0.00100705 |
1-145474736-A-G
|
p.Arg470Gly |
missense |
ANKRD34A |
1 |
78962 |
1.26643E-5 |
39481 |
0 |
NA |
1-145474765-C-T
|
p.Ile479Ile |
synonymous |
ANKRD34A |
2 |
79154 |
2.52672E-5 |
39577 |
0 |
NA |
1-145474766-C-T
|
p.Arg480Cys |
missense |
ANKRD34A |
4 |
79102 |
5.05676E-5 |
39551 |
0 |
6.25E-4 |
1-145474767-G-A
|
p.Arg480His |
missense |
ANKRD34A |
1 |
79102 |
1.26419E-5 |
39551 |
0 |
9.66034E-6 |
1-145474773-TG-T
|
p.Gly484fs |
frameshift |
ANKRD34A |
1 |
79056 |
1.26493E-5 |
39528 |
0 |
2.968E-5 |
1-145474789-T-C
|
p.Ser487Ser |
synonymous |
ANKRD34A |
1 |
79088 |
1.26441E-5 |
39544 |
0 |
3.20082E-5 |