Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-10472064-C-T c.-278+2C>T splice_donor AMPD3 10419 24170 0.431072 12085 2332 0.417229
11-10472262-C-T c.-307C>T 5_prime_UTR_premature_start_codon_gain AMPD3 1 24474 4.08597E-5 12237 0 NA
11-10472316-G-T c.-115+5G>T splice_region AMPD3 1 24772 4.03682E-5 12386 0 NA
11-10472406-C-T c.-163C>T 5_prime_UTR_premature_start_codon_gain AMPD3 1 31340 3.19081E-5 15670 0 NA
11-10472478-C-T c.-91C>T 5_prime_UTR_premature_start_codon_gain AMPD3 2 47022 4.25333E-5 23511 0 NA
11-10472499-A-T c.-70A>T 5_prime_UTR_premature_start_codon_gain AMPD3 21 52544 3.99665E-4 26272 0 1.92926E-4
11-10472542-C-T c.-27C>T 5_prime_UTR_premature_start_codon_gain AMPD3 5 56192 8.89806E-5 28096 0 2.82662E-5
11-10472569-A-T p.Met1? initiator_codon AMPD3 1 54406 1.83803E-5 27203 0 NA
11-10472570-T-A p.Met1? start_lost AMPD3 1 54414 1.83776E-5 27207 0 5.07496E-6
11-10472579-C-G p.Ser4Trp missense AMPD3 3 53862 5.56979E-5 26931 0 6.37877E-5
11-10472596-TGC-T c.22+7_22+8delGC splice_region AMPD3 1 51746 1.93252E-5 25873 0 NA
11-10472596-T-TGC c.22+6_22+7insGC splice_region AMPD3 6 51746 1.15951E-4 25873 0 4.25238E-4
11-10472598-C-G c.22+8C>G splice_region AMPD3 2 51458 3.88666E-5 25729 0 NA
11-10476885-A-C c.-114-2A>C splice_acceptor AMPD3 1 27192 3.67755E-5 13596 0 NA
11-10476908-T-C c.-93T>C 5_prime_UTR_premature_start_codon_gain AMPD3 1 27188 3.67809E-5 13594 0 NA
11-10476976-C-T c.-25C>T 5_prime_UTR_premature_start_codon_gain AMPD3 12 27056 4.43525E-4 13528 0 0.00121204
11-10476977-G-A c.-24G>A 5_prime_UTR_premature_start_codon_gain AMPD3 1 27080 3.69276E-5 13540 0 NA
11-10477738-C-T c.-196C>T 5_prime_UTR_premature_start_codon_gain AMPD3 2 46954 4.25949E-5 23477 0 NA
11-10477821-C-T c.-113C>T 5_prime_UTR_premature_start_codon_gain AMPD3 1 72556 1.37825E-5 36278 0 NA
11-10477847-C-T c.-87C>T 5_prime_UTR_premature_start_codon_gain AMPD3 11 77058 1.4275E-4 38529 0 1.59185E-4
11-10477851-C-T c.-83C>T 5_prime_UTR_premature_start_codon_gain AMPD3 22 77554 2.83673E-4 38777 0 9.23214E-4
11-10477939-G-T p.Glu2Asp missense AMPD3 113 81830 0.00138091 40915 1 0.0026113
11-10477941-C-T p.Pro3Leu missense AMPD3 2 81808 2.44475E-5 40904 0 4.02136E-6
11-10482921-C-T c.-56C>T 5_prime_UTR_premature_start_codon_gain AMPD3 188 78504 0.00239478 39252 2 0.0055414
11-10482971-G-T c.-6G>T splice_region AMPD3 2 80702 2.47825E-5 40351 0 2.86588E-4
11-10482975-G-C c.-6+4G>C splice_region AMPD3 1 80744 1.23848E-5 40372 0 5.09502E-5
11-10482976-G-T c.-6+5G>T splice_region AMPD3 261 80752 0.00323212 40376 1 0.00484262
11-10483056-T-G c.-5-6T>G splice_region AMPD3 4 82738 4.83454E-5 41369 0 1.57248E-4
11-10483071-C-T p.Pro2Leu missense AMPD3 15 82984 1.80758E-4 41492 0 2.54826E-4
11-10483072-G-A p.Pro2Pro synonymous AMPD3 2 82986 2.41005E-5 41493 0 3.1841E-5
11-10483073-C-T p.Arg3Trp missense AMPD3 1 82990 1.20496E-5 41495 0 1.65057E-5
11-10483074-G-A p.Arg3Gln missense AMPD3 1 83032 1.20435E-5 41516 0 7.96166E-6
11-10483078-G-A p.Gln4Gln synonymous AMPD3 1 83118 1.20311E-5 41559 0 NA
11-10483081-T-G p.Phe5Leu missense AMPD3 1 83138 1.20282E-5 41569 0 NA
11-10483085-A-G p.Lys7Glu missense AMPD3 2 83176 2.40454E-5 41588 0 NA
11-10483093-C-T p.Asn9Asn synonymous AMPD3 1 83250 1.2012E-5 41625 0 NA
11-10483097-T-G p.Ser11Ala missense AMPD3 1 83276 1.20083E-5 41638 0 NA
11-10483099-T-C p.Ser11Ser synonymous AMPD3 3 83276 3.60248E-5 41638 0 7.95425E-6
11-10483108-T-G p.Asp14Glu missense AMPD3 3 83306 3.60118E-5 41653 0 0.00125
11-10483112-C-G p.Gln16Glu missense AMPD3 12 83308 1.44044E-4 41654 0 0.00100705
11-10483128-C-G p.Ala21Gly missense AMPD3 1 83288 1.20065E-5 41644 0 8.23927E-6
11-10483129-G-A p.Ala21Ala synonymous AMPD3 28 83304 3.36118E-4 41652 0 6.68875E-4
11-10483142-G-T p.Ala26Ser missense AMPD3 3 83310 3.60101E-5 41655 0 8.23859E-6
11-10483144-T-C p.Ala26Ala synonymous AMPD3 1 83320 1.20019E-5 41660 0 NA
11-10483147-A-G p.Lys27Lys synonymous AMPD3 2 83320 2.40038E-5 41660 0 3.18471E-5
11-10483154-C-T p.Arg30* stop_gained AMPD3 1 83308 1.20036E-5 41654 0 3.18492E-5
11-10483155-G-A p.Arg30Gln missense AMPD3 1 83312 1.20031E-5 41656 0 5.03525E-4
11-10483167-G-T p.Ser34Ile missense AMPD3 1 83320 1.20019E-5 41660 0 NA
11-10483172-G-A p.Asp36Asn missense AMPD3 2 83328 2.40015E-5 41664 0 NA
11-10483176-C-T p.Ala37Val missense AMPD3 2 83328 2.40015E-5 41664 0 6.3674E-5
11-10483176-C-A p.Ala37Asp missense AMPD3 1 83328 1.20008E-5 41664 0 NA
11-10483213-C-T c.-126C>T 5_prime_UTR_premature_start_codon_gain AMPD3 5 83294 6.00283E-5 41647 0 1.59276E-4
11-10483214-G-A p.Gly50Arg missense AMPD3 1 83284 1.20071E-5 41642 0 8.31103E-6
11-10483218-A-T p.Gln51Leu missense AMPD3 1 83294 1.20057E-5 41647 0 NA
11-10483243-G-T p.Leu59Leu synonymous AMPD3 10 83230 1.20149E-4 41615 0 6.25E-4
11-10483252-G-A p.Glu62Glu synonymous AMPD3 2 83146 2.40541E-5 41573 0 7.99156E-6
11-10483255-G-T c.-84G>T 5_prime_UTR_premature_start_codon_gain AMPD3 1 83132 1.20291E-5 41566 0 NA
11-10483268-T-A p.Ser68Thr missense AMPD3 1 83010 1.20467E-5 41505 0 NA
11-10483275-A-G p.Glu70Gly missense AMPD3 30 82886 3.61943E-4 41443 0 5.04032E-4
11-10483279-C-T c.-60C>T 5_prime_UTR_premature_start_codon_gain AMPD3 6 82788 7.24743E-5 41394 0 9.65204E-5
11-10483282-A-T p.Ala72Ala synonymous AMPD3 1 82700 1.20919E-5 41350 0 NA
11-10483292-G-A c.221+5G>A splice_region AMPD3 1 82568 1.21112E-5 41284 0 NA
11-10500070-T-C c.222-3T>C splice_region AMPD3 1 83040 1.20424E-5 41520 0 NA
11-10500076-GAA-G p.Ser77fs frameshift AMPD3 2 83174 2.4046E-5 41587 0 7.97022E-6
11-10500084-T-A p.Phe78Tyr missense AMPD3 1 83224 1.20158E-5 41612 0 NA
11-10500123-C-T p.Pro91Leu missense AMPD3 2 83292 2.40119E-5 41646 0 1.19291E-5
11-10500124-G-A p.Pro91Pro synonymous AMPD3 2 83296 2.40108E-5 41648 0 1.11339E-4
11-10500134-G-A p.Asp95Asn missense AMPD3 105 83288 0.00126069 41644 0 9.70272E-4
11-10500136-T-C p.Asp95Asp synonymous AMPD3 2 83284 2.40142E-5 41642 0 8.24674E-6
11-10500136-T-A p.Asp95Glu missense AMPD3 1 83284 1.20071E-5 41642 0 NA
11-10500144-GC-G p.Pro100fs frameshift AMPD3 3 83272 3.60265E-5 41636 0 6.37308E-5
11-10500144-G-GC p.Ala101fs frameshift AMPD3 3 83258 3.60326E-5 41629 0 1.48534E-4
11-10500144-G-GCC p.Ala101fs frameshift AMPD3 1 83272 1.20088E-5 41636 0 NA
11-10500144-G-C p.Gly98Ala missense AMPD3 1 83272 1.20088E-5 41636 0 5.03525E-4
11-10500147-C-T p.Pro99Leu missense AMPD3 3 83294 3.6017E-5 41647 0 3.97655E-6
11-10500150-C-T p.Pro100Leu missense AMPD3 10 83276 1.20083E-4 41638 0 2.23001E-4
11-10500151-G-A p.Pro100Pro synonymous AMPD3 3 83272 3.60265E-5 41636 0 3.18492E-5
11-10500163-G-A p.Pro104Pro synonymous AMPD3 1 83304 1.20042E-5 41652 0 3.18634E-5
11-10500168-T-C p.Met106Thr missense AMPD3 1 83308 1.20036E-5 41654 0 NA
11-10500187-G-A p.Val112Val synonymous AMPD3 1 83314 1.20028E-5 41657 0 8.24144E-6
11-10500188-G-A p.Val113Ile missense AMPD3 1 83310 1.20034E-5 41655 0 3.18512E-5
11-10500191-AC-A p.Thr114fs frameshift AMPD3 1 83312 1.20031E-5 41656 0 3.97662E-6
11-10500196-A-G p.Gly115Gly synonymous AMPD3 1 83318 1.20022E-5 41659 0 NA
11-10500196-A-T p.Gly115Gly synonymous AMPD3 1 83318 1.20022E-5 41659 0 1.19298E-5
11-10500198-C-T p.Ala116Val missense AMPD3 1 83326 1.20011E-5 41663 0 3.18492E-5
11-10500211-C-T p.Pro120Pro synonymous AMPD3 1 83352 1.19973E-5 41676 0 NA
11-10500213-C-T p.Thr121Met missense AMPD3 10 83348 1.19979E-4 41674 0 6.25E-4
11-10500214-G-A p.Thr121Thr synonymous AMPD3 7 83338 8.39953E-5 41669 0 5.9664E-5
11-10500234-C-T p.Pro128Leu missense AMPD3 1 83364 1.19956E-5 41682 0 3.97924E-6
11-10500245-C-G p.Arg132Gly missense AMPD3 1 83348 1.19979E-5 41674 0 NA
11-10500246-G-A p.Arg132Gln missense AMPD3 2 83346 2.39964E-5 41673 0 0.00100705
11-10500259-C-T p.Ser136Ser synonymous AMPD3 13 83318 1.56029E-4 41659 0 0.00125
11-10500274-C-T p.Ala141Ala synonymous AMPD3 46 83244 5.52592E-4 41622 1 0.00209215
11-10500277-G-GATCACTTTGGAGGACTATGAGCAGGCAGCCAAGA c.426_426+1insATCACTTTGGAGGACTATGAGCAGGCAGCCAAGA splice_donor AMPD3 5 83240 6.00673E-5 41620 2 NA
11-10500278-G-T c.426+1G>T splice_donor AMPD3 1 83216 1.20169E-5 41608 0 2.01206E-5
11-10500284-C-A c.426+7C>A splice_region AMPD3 10 83160 1.2025E-4 41580 0 2.54826E-4
11-10500285-G-A c.426+8G>A splice_region AMPD3 159 83142 0.00191239 41571 0 0.00452316
11-10503610-A-G p.Ile143Val missense+splice_region AMPD3 1 83194 1.20201E-5 41597 0 1.98897E-5
11-10503611-T-A p.Ile143Asn missense+splice_region AMPD3 1 83222 1.20161E-5 41611 0 3.1839E-5
11-10503622-G-T p.Asp147Tyr missense AMPD3 3 83250 3.6036E-5 41625 0 0.00100705
11-10503642-GA-AG p.LysSer153LysGly missense AMPD3 1 83288 1.20065E-5 41644 0 NA
11-10503666-C-G p.Ile161Met missense AMPD3 2 83306 2.40079E-5 41653 0 NA
11-10503668-G-A p.Arg162Gln missense AMPD3 1 83302 1.20045E-5 41651 0 3.1841E-5
11-10503674-A-G p.Lys164Arg missense AMPD3 1 83298 1.20051E-5 41649 0 3.1837E-5
11-10503675-G-T p.Lys164Asn missense AMPD3 5 83298 6.00254E-5 41649 0 8.26064E-6
11-10503677-A-G p.Tyr165Cys missense AMPD3 1 83294 1.20057E-5 41647 0 7.55714E-5
11-10503680-C-T p.Ala166Val missense AMPD3 1 83280 1.20077E-5 41640 0 1.59123E-5
11-10503681-G-A p.Ala166Ala synonymous AMPD3 13 83282 1.56096E-4 41641 0 3.50296E-4
11-10503682-C-A p.Arg167Arg synonymous AMPD3 1 83278 1.2008E-5 41639 0 NA
11-10503683-G-T p.Arg167Leu missense AMPD3 6 83274 7.20513E-5 41637 0 1.90127E-4
11-10503687-C-T p.Leu168Leu synonymous AMPD3 5 83252 6.00586E-5 41626 0 3.18492E-5
11-10503688-G-A p.Ala169Thr missense AMPD3 1 83250 1.2012E-5 41625 0 NA
11-10503696-C-A p.His171Gln missense AMPD3 1 83254 1.20114E-5 41627 0 3.97909E-6
11-10503697-C-T p.Arg172Cys missense AMPD3 1 83252 1.20117E-5 41626 0 8.27993E-6
11-10503698-G-A p.Arg172His missense AMPD3 2 83230 2.40298E-5 41615 0 1.07666E-4
11-10503704-C-T p.Pro174Leu missense AMPD3 2 83208 2.40361E-5 41604 0 0.00100705
11-10503705-G-A p.Pro174Pro synonymous AMPD3 4 83154 4.81035E-5 41577 0 3.98096E-5
11-10503708-G-A p.Arg175Arg synonymous AMPD3 1 83132 1.20291E-5 41566 0 8.28693E-6
11-10503711-C-G p.Ile176Met missense AMPD3 1 83132 1.20291E-5 41566 0 NA
11-10503714-A-G n.526A>G splice_region AMPD3 1 83122 1.20305E-5 41561 0 NA
11-10503734-C-T p.Pro184Leu missense AMPD3 1 82998 1.20485E-5 41499 0 2.50125E-5
11-10503735-G-A p.Pro184Pro synonymous AMPD3 4 82992 4.81974E-5 41496 0 4.17049E-5
11-10503736-C-T p.Arg185Trp missense AMPD3 4931 82888 0.0594899 41444 188 0.0621854
11-10503737-G-A p.Arg185Gln missense AMPD3 1 82996 1.20488E-5 41498 0 3.98912E-6
11-10503740-C-T p.Ala186Val missense AMPD3 5 82944 6.02816E-5 41472 0 5.06073E-4
11-10503740-C-A p.Ala186Glu missense AMPD3 1 82944 1.20563E-5 41472 0 6.36943E-5
11-10503744-T-G p.Asp187Glu missense AMPD3 1 82900 1.20627E-5 41450 0 NA
11-10503745-A-T p.Thr188Ser missense AMPD3 3 82884 3.61952E-5 41442 0 NA
11-10503755-C-T p.Pro191Leu missense AMPD3 4 82772 4.83255E-5 41386 0 6.4433E-4
11-10503756-G-A p.Pro191Pro synonymous AMPD3 9460 82520 0.114639 41260 681 0.132065
11-10503775-A-G c.589+3A>G splice_region AMPD3 1 82096 1.21809E-5 41048 0 NA
11-10503780-G-C c.589+8G>C splice_region AMPD3 2 81910 2.4417E-5 40955 0 3.1837E-5
11-10506361-T-C c.590-6T>C splice_region AMPD3 1 80150 1.24766E-5 40075 0 4.02654E-6
11-10506363-G-T c.590-4G>T splice_region AMPD3 2 80164 2.49489E-5 40082 0 6.37349E-5
11-10506368-C-T p.Asp197Asp splice_region+synonymous AMPD3 1 80450 1.24301E-5 40225 0 4.14329E-4
11-10506370-TCCACCCTCCTCCACTG-T p.His199fs frameshift AMPD3 1 80610 1.24054E-5 40305 0 NA
11-10506377-T-G p.Pro200Pro synonymous AMPD3 1 80970 1.23503E-5 40485 0 8.41704E-5
11-10506387-C-T p.Pro204Ser missense AMPD3 1 81392 1.22862E-5 40696 0 NA
11-10506443-C-T p.Val222Val synonymous AMPD3 1 82914 1.20607E-5 41457 0 NA
11-10506446-C-T c.617-7C>T splice_region AMPD3 920 82932 0.0110934 41466 26 0.0177513
11-10506447-A-G p.Met224Val missense AMPD3 1 82956 1.20546E-5 41478 0 3.18735E-5
11-10506447-A-T p.Met224Leu missense AMPD3 1 82956 1.20546E-5 41478 0 NA
11-10506464-C-G p.Leu210Val missense AMPD3 1 83102 1.20334E-5 41551 0 NA
11-10506464-C-T p.Leu210Phe missense AMPD3 1 83102 1.20334E-5 41551 0 NA
11-10506464-CTT-C p.Phe230fs frameshift AMPD3 1 83102 1.20334E-5 41551 0 NA
11-10506479-C-T p.Asn234Asn synonymous AMPD3 2 83136 2.4057E-5 41568 0 3.18776E-5
11-10506483-A-G p.Lys236Glu missense AMPD3 1 83146 1.2027E-5 41573 0 3.97804E-6
11-10506497-C-T p.His240His synonymous AMPD3 1 83056 1.20401E-5 41528 0 NA
11-10506505-C-T p.Pro243Leu missense AMPD3 2 83044 2.40836E-5 41522 0 1.28041E-4
11-10506506-G-A p.Pro243Pro synonymous AMPD3 2 83018 2.40912E-5 41509 0 4.77677E-5
11-10506512-C-T p.Ser245Ser synonymous AMPD3 3 83002 3.61437E-5 41501 0 5.04032E-4
11-10506521-C-G p.Tyr248* stop_gained AMPD3 1 82958 1.20543E-5 41479 0 NA
11-10506522-C-G p.Pro249Ala missense AMPD3 3 82954 3.61646E-5 41477 0 NA
11-10506522-C-T p.Pro249Ser missense AMPD3 1 82954 1.20549E-5 41477 0 3.26435E-5
11-10506542-G-T p.Thr255Thr synonymous AMPD3 2 82660 2.41955E-5 41330 0 3.18593E-5
11-10506575-C-T p.Thr266Thr synonymous AMPD3 1 81966 1.22002E-5 40983 0 1.81623E-5
11-10506577-A-C p.Asp267Ala missense+splice_region AMPD3 1 81832 1.22202E-5 40916 0 NA
11-10506585-A-G p.Thr270Ala missense+splice_region AMPD3 4 81542 4.90545E-5 40771 0 NA
11-10506587-G-GAAAACC c.809+1_809+2insAAAACC splice_donor AMPD3 2 81372 2.45785E-5 40686 0 NA
11-10508778-G-T c.810-4G>T splice_region AMPD3 2 83374 2.39883E-5 41687 0 1.19289E-5
11-10508788-C-T p.Thr272Thr synonymous AMPD3 1 83392 1.19916E-5 41696 0 7.95241E-6
11-10508790-A-G p.Tyr273Cys missense AMPD3 3 83392 3.59747E-5 41696 0 6.36983E-5
11-10508790-A-C p.Tyr273Ser missense AMPD3 1 83392 1.19916E-5 41696 0 NA
11-10508804-C-T p.Leu278Leu synonymous AMPD3 3 83402 3.59704E-5 41701 1 NA
11-10508808-A-G p.Asn279Ser missense AMPD3 120 83390 0.00143902 41695 0 0.00130615
11-10508817-A-C p.Glu282Ala missense AMPD3 1 83398 1.19907E-5 41699 0 3.18471E-5
11-10508830-C-T p.Ser286Ser synonymous AMPD3 2 83412 2.39774E-5 41706 0 1.19287E-5
11-10508836-T-C p.His288His synonymous AMPD3 3 83412 3.5966E-5 41706 0 5.03525E-4
11-10508848-C-T p.Asn292Asn synonymous AMPD3 2 83414 2.39768E-5 41707 0 3.29506E-5
11-10508857-C-T p.Ser295Ser synonymous AMPD3 53 83416 6.3537E-4 41708 0 5.4372E-4
11-10508858-G-A p.Glu296Lys missense AMPD3 3 83418 3.59635E-5 41709 0 6.36862E-5
11-10508882-C-T p.Pro304Ser missense AMPD3 1 83420 1.19875E-5 41710 0 NA
11-10508888-C-T p.Arg306Trp missense AMPD3 68 83422 8.15133E-4 41711 0 0.0016242
11-10508902-C-T p.Asn310Asn synonymous AMPD3 7 83414 8.39188E-5 41707 0 6.25782E-4
11-10508903-G-T p.Val311Leu missense AMPD3 514 83402 0.00616292 41701 3 0.0073367
11-10508912-G-GTGGACACACACATCCA c.939+1_939+2insTGGACACACACATCCA splice_donor AMPD3 1 83406 1.19895E-5 41703 0 NA
11-10508913-T-C c.939+2T>C splice_donor AMPD3 1 83402 1.19901E-5 41701 0 NA
11-10514910-C-A p.Ile318Ile synonymous AMPD3 1 83156 1.20256E-5 41578 0 NA
11-10514911-C-T p.His319Tyr missense AMPD3 1 83164 1.20244E-5 41582 0 8.24633E-6
11-10514915-C-T p.Ala320Val missense AMPD3 4 83148 4.8107E-5 41574 0 3.18613E-5
11-10514915-C-A p.Ala320Glu missense AMPD3 2 83148 2.40535E-5 41574 0 NA
11-10514916-G-A p.Ala320Ala synonymous AMPD3 348 83144 0.00418551 41572 3 0.00831369
11-10514917-G-A p.Ala321Thr missense AMPD3 1 83164 1.20244E-5 41582 0 NA
11-10514919-C-T p.Ala321Ala synonymous AMPD3 1 83184 1.20215E-5 41592 0 5.03525E-4
11-10514930-A-G p.Asn325Ser missense AMPD3 73 83244 8.7694E-4 41622 0 0.001875
11-10514946-G-A p.Leu330Leu synonymous AMPD3 2 83270 2.40183E-5 41635 0 NA
11-10514947-C-T p.Arg331Cys missense AMPD3 2 83262 2.40206E-5 41631 0 2.1432E-4
11-10514961-C-G p.His335Gln missense AMPD3 1 83276 1.20083E-5 41638 0 NA
11-10514966-A-G p.Tyr337Cys missense AMPD3 1 83266 1.20097E-5 41633 0 8.24334E-6
11-10514967-C-G p.Tyr337* stop_gained AMPD3 1 83276 1.20083E-5 41638 0 1.90876E-4
11-10514972-C-T p.Thr339Met missense AMPD3 34 83272 4.08301E-4 41636 0 4.36919E-4
11-10514973-G-A p.Thr339Thr synonymous AMPD3 8 83272 9.60707E-5 41636 0 7.15797E-5
11-10514978-C-T p.Pro341Leu missense AMPD3 2 83274 2.40171E-5 41637 0 NA
11-10514987-C-A p.Thr344Asn missense AMPD3 2 83276 2.40165E-5 41638 0 NA
11-10515001-CG-C p.Gly350fs frameshift AMPD3 3 83246 3.60378E-5 41623 0 NA
11-10515001-C-T p.Arg349Trp missense AMPD3 1 83246 1.20126E-5 41623 0 7.15831E-5
11-10515002-G-A p.Arg349Gln missense AMPD3 3 83250 3.6036E-5 41625 0 4.12473E-5
11-10515006-C-A p.Gly350Gly synonymous AMPD3 1 83222 1.20161E-5 41611 0 NA
11-10515008-G-A p.Arg351Gln missense AMPD3 1 83218 1.20166E-5 41609 0 7.95425E-6
11-10515020-T-C p.Leu355Pro missense AMPD3 1 83132 1.20291E-5 41566 0 3.97839E-6
11-10515022-C-T p.Arg356Trp missense AMPD3 30 83136 3.60854E-4 41568 0 0.00100705
11-10515023-G-A p.Arg356Gln missense AMPD3 199 83134 0.00239373 41567 2 0.00548155
11-10515035-A-G p.Asp360Gly missense AMPD3 2 82908 2.41231E-5 41454 0 3.30573E-5
11-10515036-C-T p.Asp360Asp synonymous AMPD3 49 82888 5.91159E-4 41444 0 7.10791E-4
11-10515037-G-A p.Gly361Ser missense AMPD3 395 82838 0.00476834 41419 3 0.0085707
11-10515046-A-G p.Met364Val missense AMPD3 1 82730 1.20875E-5 41365 0 3.18573E-5
11-10515057-C-T p.Tyr367Tyr synonymous AMPD3 6 82336 7.28721E-5 41168 0 6.25E-4
11-10515061-C-T p.Leu369Phe missense AMPD3 3 82108 3.65372E-5 41054 0 NA
11-10515062-T-C p.Leu369Pro missense AMPD3 2 82016 2.43855E-5 41008 0 NA
11-10515087-C-T p.His377His synonymous AMPD3 392 80638 0.00486123 40319 3 0.00860092
11-10515088-G-A p.Ala378Thr missense+splice_region AMPD3 6 80538 7.4499E-5 40269 0 6.37024E-5
11-10515089-C-T p.Ala378Val missense+splice_region AMPD3 3 80500 3.72671E-5 40250 0 9.55536E-5
11-10515090-G-A p.Ala378Ala splice_region+synonymous AMPD3 1 80492 1.24236E-5 40246 0 5.04032E-4
11-10515112-T-G p.Cys67Gly missense AMPD3 3 79248 3.78558E-5 39624 0 3.36368E-5
11-10515115-C-T p.Arg68Cys missense AMPD3 1 78956 1.26653E-5 39478 0 3.49675E-5
11-10515116-G-A p.Arg68His missense AMPD3 3 78938 3.80045E-5 39469 0 6.25E-4
11-10515123-G-GA p.Thr71fs frameshift AMPD3 1 78824 1.26865E-5 39412 0 NA
11-10515137-C-T p.Ala75Val missense AMPD3 1 78000 1.28205E-5 39000 0 NA
11-10515146-C-A p.Ser78* stop_gained AMPD3 1 77384 1.29226E-5 38692 0 NA
11-10515163-A-G p.Thr84Ala missense AMPD3 4 75930 5.26801E-5 37965 0 9.55657E-5
11-10515172-G-A p.Val87Met missense AMPD3 1 75066 1.33216E-5 37533 0 NA
11-10515178-G-A p.Ala89Thr missense AMPD3 11 73852 1.48947E-4 36926 0 7.93708E-4
11-10515180-C-A p.Ala89Ala synonymous AMPD3 8 73194 1.09299E-4 36597 0 1.46231E-4
11-10515180-C-T p.Ala89Ala synonymous AMPD3 10 73194 1.36623E-4 36597 0 4.38693E-4
11-10515181-G-A p.Gly90Arg missense AMPD3 3 73166 4.10027E-5 36583 0 6.25E-4
11-10515188-G-A p.Cys92Tyr missense AMPD3 2 71298 2.80513E-5 35649 0 NA
11-10515192-C-T p.Tyr93Tyr synonymous AMPD3 11 70040 1.57053E-4 35020 0 4.38693E-4
11-10515193-G-A p.Gly94Arg missense AMPD3 2 69640 2.87191E-5 34820 0 6.83191E-6
11-10515198-C-T p.Ser95Ser synonymous AMPD3 1 67860 1.47362E-5 33930 0 7.00221E-6
11-10515212-A-G p.Tyr100Cys missense AMPD3 7 62298 1.12363E-4 31149 0 1.53233E-4
11-10515214-C-G p.Leu101Val missense AMPD3 3 61456 4.88154E-5 30728 0 7.83331E-5
11-10515215-T-G p.Leu101Arg missense AMPD3 1 61058 1.63779E-5 30529 0 3.18512E-5
11-10515227-C-T p.Ser105Leu missense AMPD3 1 55396 1.80518E-5 27698 0 7.59521E-6
11-10515231-C-T p.Cys106Cys synonymous AMPD3 2 52234 3.82892E-5 26117 0 3.18471E-5
11-10515232-G-A p.Gly107Ser missense AMPD3 1 51108 1.95664E-5 25554 0 5.34792E-5
11-10515234-C-T p.Gly107Gly synonymous AMPD3 3 49512 6.05914E-5 24756 0 2.29896E-5
11-10515246-A-G p.Ter111Ter stop_retained AMPD3 4 42880 9.32836E-5 21440 0 NA
11-10515248-A-G c.*2A>G splice_region AMPD3 2 41820 4.7824E-5 20910 0 NA
11-10516439-C-A c.1135-7C>A splice_region AMPD3 1 83294 1.20057E-5 41647 0 8.23723E-6
11-10516440-C-A c.1135-6C>A splice_region AMPD3 32 83300 3.84154E-4 41650 1 8.23134E-4
11-10516440-C-G c.1135-6C>G splice_region AMPD3 50 83298 6.00255E-4 41649 0 6.6896E-4
11-10516440-C-T c.1135-6C>T splice_region AMPD3 3 83300 3.60144E-5 41650 0 6.37105E-5
11-10516441-C-T c.1135-5C>T splice_region AMPD3 7 83302 8.40316E-5 41651 0 1.15317E-4
11-10516441-C-A c.1135-5C>A splice_region AMPD3 17 83302 2.04077E-4 41651 0 3.02216E-4
11-10516447-G-GC p.Arg380fs frameshift AMPD3 1 83324 1.20013E-5 41662 0 NA
11-10516449-C-T p.Arg380Trp missense AMPD3 1 83324 1.20013E-5 41662 0 0.00100705
11-10516462-A-C p.His384Pro missense AMPD3 1 83348 1.19979E-5 41674 0 NA
11-10516464-C-T p.Arg385Cys missense AMPD3 1 83348 1.19979E-5 41674 0 5.76587E-5
11-10516465-G-A p.Arg385His missense AMPD3 2 83354 2.3994E-5 41677 0 3.18552E-5
11-10516465-G-T p.Arg385Leu missense AMPD3 1 83354 1.1997E-5 41677 0 NA
11-10516469-TGACAA-T p.Asp387fs frameshift AMPD3 1 83352 1.19973E-5 41676 0 3.97624E-6
11-10516477-T-TGTATTC p.Phe389delinsLeuTyrSer disruptive_inframe_insertion AMPD3 1 83360 1.19962E-5 41680 0 3.97624E-6
11-10516486-A-G p.Lys392Arg missense AMPD3 1 83366 1.19953E-5 41683 0 1.19288E-5
11-10516502-G-T p.Gly397Gly synonymous AMPD3 1 83356 1.19967E-5 41678 0 8.23669E-6
11-10516503-G-A p.Ala398Thr missense AMPD3 1 83354 1.1997E-5 41677 0 8.23683E-6
11-10516514-G-T p.Leu401Leu synonymous AMPD3 1 83368 1.1995E-5 41684 0 1.19288E-5
11-10516516-G-A p.Arg402His missense AMPD3 5 83370 5.99736E-5 41685 0 8.23655E-6
11-10516526-T-C p.Tyr405Tyr synonymous AMPD3 3 83380 3.59799E-5 41690 0 NA
11-10516542-T-C p.Tyr411His missense AMPD3 3 83372 3.59833E-5 41686 0 NA
11-10516543-A-G p.Tyr411Cys missense AMPD3 1 83370 1.19947E-5 41685 0 3.29462E-5
11-10516566-C-T p.Arg419Trp missense AMPD3 3 83358 3.59893E-5 41679 0 5.16936E-5
11-10516567-G-A p.Arg419Gln missense AMPD3 5 83350 5.9988E-5 41675 0 1.48268E-4
11-10516582-G-A c.1266+5G>A splice_region AMPD3 2 83320 2.40038E-5 41660 0 1.64737E-5
11-10517114-C-T c.1267-3C>T splice_region AMPD3 10 82806 1.20764E-4 41403 0 4.78103E-4
11-10517117-G-C p.Glu423Gln missense+splice_region AMPD3 2 82844 2.41418E-5 41422 0 NA
11-10517120-G-T p.Val424Phe missense AMPD3 2 82856 2.41383E-5 41428 0 3.18289E-5
11-10517126-C-T p.Arg426Trp missense AMPD3 12 82940 1.44683E-4 41470 0 5.03525E-4
11-10517127-G-A p.Arg426Gln missense AMPD3 3 82958 3.61629E-5 41479 0 3.18776E-5
11-10517151-A-G p.Gln434Arg missense AMPD3 1 83064 1.20389E-5 41532 0 3.97817E-6
11-10517152-G-A p.Gln434Gln synonymous AMPD3 17 83062 2.04666E-4 41531 0 2.54907E-4
11-10517154-A-G p.Tyr435Cys missense AMPD3 4 83062 4.81568E-5 41531 0 3.18878E-5
11-10517165-C-T p.Arg439Trp missense AMPD3 3 83072 3.61133E-5 41536 0 3.97845E-6
11-10517170-C-G p.Leu440Leu synonymous AMPD3 1 83070 1.2038E-5 41535 0 NA
11-10517174-A-G p.Ile442Val missense AMPD3 1 83068 1.20383E-5 41534 0 NA
11-10517179-C-T c.*198C>T splice_region AMPD3 2 83086 2.40714E-5 41543 0 9.56145E-5
11-10517180-G-A p.Gly444Ser missense AMPD3 1 83086 1.20357E-5 41543 0 2.47807E-5
11-10517183-C-T p.Arg445Cys missense AMPD3 5 83072 6.01888E-5 41536 0 6.25E-4
11-10517184-G-A p.Arg445His missense AMPD3 1 83070 1.2038E-5 41535 0 1.27494E-4
11-10517186-A-C p.Ser446Arg missense AMPD3 2 83086 2.40714E-5 41543 0 3.18878E-5
11-10517190-C-T p.Pro447Leu missense AMPD3 1 83106 1.20328E-5 41553 0 NA
11-10517205-ACCTGGCCTACTGGTT-A p.Leu453_Phe457del conservative_inframe_deletion AMPD3 2 83118 2.40622E-5 41559 0 NA
11-10517206-C-T p.Asn452Asn synonymous AMPD3 1 83114 1.20317E-5 41557 0 NA
11-10517210-G-A p.Ala454Thr missense AMPD3 1 83114 1.20317E-5 41557 0 8.259E-6
11-10517213-T-C p.Tyr455His missense AMPD3 872 83132 0.0104893 41566 29 0.0192136
11-10517216-T-G p.Trp456Gly missense AMPD3 2 83146 2.40541E-5 41573 0 3.18634E-5
11-10517217-G-C p.Trp456Ser missense AMPD3 1 83148 1.20267E-5 41574 0 3.30415E-5
11-10517219-T-C p.Phe457Leu missense AMPD3 2 83148 2.40535E-5 41574 0 9.5645E-5
11-10517233-G-A p.Lys461Lys synonymous AMPD3 2 83190 2.40414E-5 41595 0 2.62549E-4
11-10517234-G-T p.Val462Phe missense AMPD3 1 83192 1.20204E-5 41596 0 3.97791E-6
11-10517243-C-A p.Pro465Thr missense AMPD3 11 83192 1.32224E-4 41596 0 0.001875
11-10517247-A-G p.Asn466Ser missense AMPD3 1 83196 1.20198E-5 41598 0 3.9776E-6
11-10517252-C-T p.Arg468Cys missense AMPD3 21 83196 2.52416E-4 41598 0 9.56023E-5
11-10517253-G-A p.Arg468His missense AMPD3 1 83190 1.20207E-5 41595 0 8.26747E-6
11-10517267-G-A p.Val473Met missense AMPD3 1 83154 1.20259E-5 41577 0 NA
11-10517271-C-T p.Pro474Leu missense AMPD3 1 83138 1.20282E-5 41569 0 NA
11-10517273-C-T p.Arg475Trp missense AMPD3 14 83152 1.68366E-4 41576 0 8.28542E-6
11-10517273-C-A p.Arg475Arg synonymous AMPD3 1 83152 1.20262E-5 41576 0 1.65708E-5
11-10517278-T-C p.Ile476Ile splice_region+synonymous AMPD3 1 83138 1.20282E-5 41569 0 NA
11-10518304-A-G c.*733-4A>G splice_region AMPD3 6 82936 7.23449E-5 41468 0 NA
11-10518351-TC-T c.1431-3delC splice_region AMPD3 10 83308 1.20036E-4 41654 0 1.27543E-4
11-10518352-C-T c.1431-7C>T splice_region AMPD3 2 83310 2.40067E-5 41655 0 4.94332E-5
11-10518354-C-T c.1431-5C>T splice_region AMPD3 1 83320 1.20019E-5 41660 0 2.47121E-5
11-10518356-C-T c.1431-3C>T splice_region AMPD3 12 83320 1.44023E-4 41660 0 2.23029E-4
11-10518373-C-T p.Ser482Leu missense AMPD3 45 83334 5.39996E-4 41667 0 3.57867E-4
11-10518380-G-A p.Lys484Lys synonymous AMPD3 2 83346 2.39964E-5 41673 0 1.64731E-5
11-10518399-A-G p.Lys491Glu missense AMPD3 1 83366 1.19953E-5 41683 0 NA
11-10518431-C-T p.Phe501Phe synonymous AMPD3 54 83350 6.4787E-4 41675 1 0.00219899
11-10518438-A-C p.Thr504Pro missense AMPD3 2 83340 2.39981E-5 41670 0 3.18918E-5
11-10518441-A-G p.Ile505Val missense AMPD3 15 83336 1.79994E-4 41668 0 2.06768E-4
11-10518446-C-T p.Asn506Asn synonymous AMPD3 7 83336 8.39973E-5 41668 0 6.58924E-5
11-10518446-C-G p.Asn506Lys missense AMPD3 2 83336 2.39992E-5 41668 0 NA
11-10518446-C-A p.Asn506Lys missense AMPD3 1 83336 1.19996E-5 41668 0 8.23655E-6
11-10518459-C-T p.Arg511* stop_gained AMPD3 8 83320 9.60154E-5 41660 0 1.07075E-4
11-10518460-G-A p.Arg511Gln missense AMPD3 13 83310 1.56044E-4 41655 0 5.05051E-4
11-10518461-A-G p.Arg511Arg synonymous AMPD3 1 83312 1.20031E-5 41656 0 NA
11-10518468-C-T p.His514Tyr missense AMPD3 2 83288 2.40131E-5 41644 0 6.37471E-5
11-10518478-T-G p.Leu517Arg missense AMPD3 2 83276 2.40165E-5 41638 0 1.55115E-4
11-10518482-A-G p.Lys518Lys synonymous AMPD3 5 83262 6.00514E-5 41631 0 2.47097E-5
11-10518489-A-G c.1557+4A>G splice_region AMPD3 3 83260 3.60317E-5 41630 0 NA
11-10521630-C-T c.1558-3C>T splice_region AMPD3 1 82834 1.20723E-5 41417 0 NA
11-10521637-C-T p.Thr521Met missense AMPD3 1 82840 1.20715E-5 41420 0 4.94641E-5
11-10521644-T-G p.Phe523Leu missense AMPD3 178 82962 0.00214556 41481 0 0.00181361
11-10521647-C-G p.Asp524Glu missense AMPD3 2 82988 2.40999E-5 41494 0 3.97741E-6
11-10521647-C-A p.Asp524Glu missense AMPD3 1 82988 1.20499E-5 41494 0 NA
11-10521650-C-T p.Ser525Ser synonymous AMPD3 3 82994 3.61472E-5 41497 0 3.18735E-5
11-10521674-C-T p.Ser533Ser synonymous AMPD3 3 83148 3.60802E-5 41574 0 1.64753E-5
11-10521675-G-A p.Asp534Asn missense AMPD3 1 83206 1.20184E-5 41603 0 6.37877E-5
11-10521680-CAT-C p.Met536fs frameshift AMPD3 1 83296 1.20054E-5 41648 0 1.1929E-5
11-10521689-C-T p.Ser538Ser synonymous AMPD3 6 83328 7.20046E-5 41664 0 4.11862E-5
11-10521690-G-A p.Asp539Asn missense AMPD3 2 83342 2.39975E-5 41671 0 8.2371E-6
11-10521692-C-T p.Asp539Asp synonymous AMPD3 1 83360 1.19962E-5 41680 0 3.97627E-6
11-10521695-G-C p.Lys540Asn missense AMPD3 1 83372 1.19944E-5 41686 0 8.23683E-6
11-10521700-C-T p.Pro542Leu missense AMPD3 1 83382 1.1993E-5 41691 0 1.64737E-5
11-10521706-C-T p.Pro544Leu missense AMPD3 2 83394 2.39825E-5 41697 0 6.25E-4
11-10521707-G-T p.Pro544Pro synonymous AMPD3 1 83392 1.19916E-5 41696 0 NA
11-10521707-G-A p.Pro544Pro synonymous AMPD3 1 83392 1.19916E-5 41696 0 6.37105E-5
11-10521710-C-T p.Asp545Asp synonymous AMPD3 11 83390 1.3191E-4 41695 0 1.27429E-4
11-10521713-C-T p.Val546Val synonymous AMPD3 2 83394 2.39825E-5 41697 0 8.23655E-6
11-10521718-C-T p.Thr548Ile missense AMPD3 2 83398 2.39814E-5 41699 0 8.23655E-6
11-10521719-C-A p.Thr548Thr synonymous AMPD3 1 83398 1.19907E-5 41699 0 NA
11-10521737-C-G p.Pro554Pro synonymous AMPD3 1 83374 1.19941E-5 41687 0 NA
11-10521737-C-T p.Pro554Pro synonymous AMPD3 2 83374 2.39883E-5 41687 0 NA
11-10521749-C-T p.Tyr558Tyr synonymous AMPD3 2162 83348 0.0259394 41674 37 0.0422961
11-10521750-C-T p.Leu559Leu synonymous AMPD3 2 83368 2.399E-5 41684 0 5.03525E-4
11-10521764-T-C p.Tyr563Tyr synonymous AMPD3 30526 82578 0.369663 41289 6015 0.41877
11-10521764-TG-CA p.TyrAla563TyrThr missense AMPD3 1 83356 1.19967E-5 41678 0 NA
11-10521777-G-A p.Val568Met missense AMPD3 1 83308 1.20036E-5 41654 0 3.97668E-6
11-10521788-C-A p.Asn571Lys missense AMPD3 1 83292 1.2006E-5 41646 0 NA
11-10521792-C-T p.Arg573Cys missense AMPD3 6 83258 7.20651E-5 41629 0 3.22129E-4
11-10521793-G-A p.Arg573His missense AMPD3 1 83254 1.20114E-5 41627 0 1.64791E-5
11-10521795-A-G p.Arg574Gly missense+splice_region AMPD3 1 83246 1.20126E-5 41623 0 NA
11-10521800-C-T c.1721+4C>T splice_region AMPD3 1 83224 1.20158E-5 41612 0 NA
11-10521801-G-A c.1721+5G>A splice_region AMPD3 1 83208 1.20181E-5 41604 0 3.18471E-5
11-10523013-A-G c.1722-4A>G splice_region AMPD3 1 82142 1.2174E-5 41071 0 NA
11-10523021-C-T p.Arg576Cys missense AMPD3 2 82252 2.43155E-5 41126 0 3.99508E-6
11-10523022-G-A p.Arg576His missense AMPD3 2 82264 2.4312E-5 41132 0 3.18735E-5
11-10523023-C-T p.Arg576Arg synonymous AMPD3 48 82276 5.83402E-4 41138 0 6.69301E-4
11-10523023-CG-C p.Gly577fs frameshift AMPD3 2 82278 2.43078E-5 41139 0 1.19795E-5
11-10523024-G-A p.Gly577Ser missense AMPD3 2 82310 2.42984E-5 41155 0 1.27559E-4
11-10523026-C-G p.Gly577Gly synonymous AMPD3 1 82394 1.21368E-5 41197 0 8.37872E-6
11-10523026-C-A p.Gly577Gly synonymous AMPD3 1 82394 1.21368E-5 41197 0 NA
11-10523031-G-A p.Ser579Asn missense AMPD3 2 82488 2.4246E-5 41244 0 8.35631E-6
11-10523034-C-T p.Thr580Met missense AMPD3 16 82562 1.93794E-4 41281 0 4.78149E-5
11-10523035-G-A p.Thr580Thr synonymous AMPD3 1 82606 1.21057E-5 41303 0 1.19515E-5
11-10523045-C-T p.Arg584Trp missense AMPD3 3 82758 3.62503E-5 41379 0 1.66448E-5
11-10523046-G-A p.Arg584Gln missense AMPD3 1 82768 1.2082E-5 41384 0 1.19436E-5
11-10523049-C-T p.Pro585Leu missense AMPD3 1 82846 1.20706E-5 41423 0 3.18735E-5
11-10523050-G-A p.Pro585Pro synonymous AMPD3 6 82832 7.24358E-5 41416 0 3.18756E-5
11-10523056-TG-T p.Glu589fs frameshift AMPD3 1 82924 1.20592E-5 41462 0 NA
11-10523061-A-C p.Glu589Ala missense AMPD3 1 82948 1.20557E-5 41474 0 NA
11-10523065-C-T p.Ala590Ala synonymous AMPD3 16 83028 1.92706E-4 41514 0 1.3924E-4
11-10523066-G-A p.Gly591Ser missense AMPD3 9 83040 1.08382E-4 41520 0 5.10041E-4
11-10523070-C-T p.Ser592Phe missense AMPD3 1 83108 1.20325E-5 41554 0 8.27965E-6
11-10523072-A-G p.Ile593Val missense AMPD3 2 83112 2.40639E-5 41556 0 3.9775E-5
11-10523117-C-T p.His608Tyr missense AMPD3 1 83184 1.20215E-5 41592 0 NA
11-10523119-C-T p.His608His synonymous AMPD3 9 83174 1.08207E-4 41587 0 0.00100705
11-10523120-G-A p.Gly609Arg missense AMPD3 1 83170 1.20236E-5 41585 0 3.97753E-6
11-10523139-T-C c.1842+2T>C splice_donor AMPD3 1 83062 1.20392E-5 41531 0 NA
11-10523143-C-G c.1842+6C>G splice_region AMPD3 3 83038 3.6128E-5 41519 0 8.2661E-6
11-10524271-C-T p.Pro616Ser missense AMPD3 1 83416 1.19881E-5 41708 0 NA
11-10524272-C-T p.Pro616Leu missense AMPD3 6 83414 7.19304E-5 41707 0 2.38624E-5
11-10524273-G-C p.Pro616Pro synonymous AMPD3 4 83416 4.79524E-5 41708 0 NA
11-10524295-C-G p.Leu624Val missense AMPD3 1 83428 1.19864E-5 41714 0 NA
11-10524307-C-A p.Pro628Thr missense AMPD3 2 83430 2.39722E-5 41715 0 1.2734E-4
11-10524310-A-G p.Ile629Val missense AMPD3 1 83432 1.19858E-5 41716 0 1.64728E-5
11-10524316-A-C p.Met631Leu missense AMPD3 1 83428 1.19864E-5 41714 0 NA
11-10524316-ATG-A p.Met631fs frameshift AMPD3 1 83428 1.19864E-5 41714 0 NA
11-10524317-T-C p.Met631Thr missense AMPD3 2 83428 2.39728E-5 41714 0 1.64728E-5
11-10524327-T-C c.187-3T>C splice_region AMPD3 1 83422 1.19872E-5 41711 0 NA
11-10524365-C-T p.Pro647Leu missense AMPD3 1 83408 1.19893E-5 41704 0 NA
11-10524378-C-G p.Phe651Leu missense AMPD3 1 83398 1.19907E-5 41699 0 NA
11-10524389-G-T p.Gly655Val missense AMPD3 1 83396 1.1991E-5 41698 0 NA
11-10524394-C-G p.His657Asp missense AMPD3 2 83388 2.39843E-5 41694 0 3.1841E-5
11-10524397-G-A p.Val658Ile missense AMPD3 1 83386 1.19924E-5 41693 0 NA
11-10524408-C-T p.His89Tyr missense AMPD3 1 83380 1.19933E-5 41690 0 6.37064E-5
11-10524411-C-T p.Arg90* stop_gained AMPD3 1 83368 1.1995E-5 41684 0 8.23723E-6
11-10524412-G-A p.Asp663Asn missense AMPD3 1 83366 1.19953E-5 41683 0 8.23764E-6
11-10524424-C-A p.Gln667Lys missense AMPD3 1 83332 1.20002E-5 41666 0 NA
11-10524432-C-T p.His669His synonymous AMPD3 2 83288 2.40131E-5 41644 0 9.55353E-5
11-10524438-G-A p.Thr671Thr synonymous AMPD3 2 83256 2.40223E-5 41628 0 8.24742E-6
11-10524449-C-T c.2016+8C>T splice_region AMPD3 3 83174 3.6069E-5 41587 0 2.47709E-5
11-10526088-G-T c.2017-8G>T splice_region AMPD3 6 83314 7.20167E-5 41657 0 9.14586E-5
11-10526099-G-A p.Ala674Thr missense AMPD3 1 83346 1.19982E-5 41673 0 NA
11-10526100-C-G p.Ala674Gly missense AMPD3 1 83346 1.19982E-5 41673 0 NA
11-10526107-G-A p.Met676Ile missense AMPD3 4 83354 4.79881E-5 41677 0 NA
11-10526114-T-G p.Tyr679Asp missense AMPD3 2 83350 2.39952E-5 41675 0 1.64728E-5
11-10526118-C-G p.Ala680Gly missense AMPD3 1 83344 1.19985E-5 41672 0 3.97652E-6
11-10526119-C-T c.2017-8C>T splice_region AMPD3 4 83342 4.7995E-5 41671 0 8.23655E-6
11-10526135-T-TG p.Lys687fs frameshift AMPD3 1 83334 1.19999E-5 41667 0 3.97643E-6
11-10526152-C-T p.Cys691Cys synonymous AMPD3 2 83316 2.4005E-5 41658 0 1.98828E-5
11-10526153-G-A p.Asp692Asn missense AMPD3 2 83316 2.4005E-5 41658 0 NA
11-10526167-C-T p.Ile696Ile synonymous AMPD3 10 83272 1.20088E-4 41636 1 1.59077E-5
11-10526167-C-A p.Ile696Ile synonymous AMPD3 3 83272 3.60265E-5 41636 0 3.18573E-5
11-10526170-C-G p.Ala697Ala synonymous AMPD3 1 83262 1.20103E-5 41631 0 NA
11-10526180-G-A p.Val701Met missense AMPD3 2 83216 2.40338E-5 41608 0 3.18573E-5
11-10526180-G-T p.Val701Leu missense AMPD3 1 83216 1.20169E-5 41608 0 1.64753E-5
11-10526191-C-T p.Ser704Ser synonymous AMPD3 1 83104 1.20331E-5 41552 0 3.18695E-5
11-10526199-C-T p.Ser707Leu missense AMPD3 1 83014 1.20462E-5 41507 0 3.29544E-5
11-10526200-G-A p.Ser707Ser synonymous AMPD3 1 82964 1.20534E-5 41482 0 6.37064E-5
11-10526207-G-GAAAAGCAAAAGTTTCTGGGACAAAAT c.2127+1_2127+2insAAAAGCAAAAGTTTCTGGGACAAAAT splice_donor AMPD3 3 82826 3.62205E-5 41413 1 NA
11-10526207-G-C c.2127+1G>C splice_donor AMPD3 2 82828 2.41464E-5 41414 0 NA
11-10526212-G-A c.2127+6G>A splice_region AMPD3 1 82686 1.20939E-5 41343 0 1.07141E-4
11-10527280-A-G p.Asn718Ser missense AMPD3 2 83312 2.40061E-5 41656 0 NA
11-10527288-A-G p.Lys721Glu missense AMPD3 1 83322 1.20016E-5 41661 0 NA
11-10527315-C-T p.Arg730* stop_gained AMPD3 2 83314 2.40056E-5 41657 0 3.29908E-5
11-10527316-G-A p.Arg730Gln missense AMPD3 1 83316 1.20025E-5 41658 0 2.47431E-5
11-10527318-A-C p.Lys731Gln missense AMPD3 2 83304 2.40085E-5 41652 0 NA
11-10527320-G-A p.Lys731Lys synonymous AMPD3 1 83300 1.20048E-5 41650 0 NA
11-10527339-C-T p.Arg738Trp missense AMPD3 2 83268 2.40188E-5 41634 0 0.00100705
11-10527340-G-A p.Arg738Gln missense AMPD3 2 83270 2.40183E-5 41635 0 1.64929E-5
11-10527350-C-T p.Phe741Phe synonymous AMPD3 1 83264 1.201E-5 41632 0 NA
11-10527352-G-A p.Arg742Gln missense AMPD3 1 83262 1.20103E-5 41631 0 3.97814E-6
11-10527365-A-G p.Leu746Leu synonymous AMPD3 2 83236 2.40281E-5 41618 0 1.9891E-5
11-10527374-G-A p.Glu749Glu synonymous AMPD3 250 83220 0.00300409 41610 1 0.00544447
11-10527384-C-T p.Leu753Leu synonymous AMPD3 1 83192 1.20204E-5 41596 0 8.24688E-6
11-10527394-C-G p.Ala756Gly missense AMPD3 4 83134 4.81151E-5 41567 0 6.3674E-5
11-10527410-G-A p.Glu761Glu synonymous AMPD3 3 83052 3.61219E-5 41526 0 NA
11-10527411-A-T p.Ile762Phe missense AMPD3 5 83058 6.01989E-5 41529 0 7.96115E-6
11-10527415-C-A p.Thr763Asn missense AMPD3 1 83026 1.20444E-5 41513 0 NA
11-10527416-C-T p.Thr763Thr synonymous AMPD3 6 83012 7.22787E-5 41506 0 5.03525E-4
11-10527417-G-A p.Ala764Thr missense AMPD3 3 83012 3.61394E-5 41506 0 3.29935E-5
11-10527422-G-A p.Leu765Leu synonymous AMPD3 1 83010 1.20467E-5 41505 0 NA
11-10527429-T-G p.Ter768Gluext*? stop_lost AMPD3 2 82990 2.40993E-5 41495 0 NA
11-10527438-C-G c.*320C>G splice_region AMPD3 1 82990 1.20496E-5 41495 0 3.18555E-5
11-10528564-A-G c.*1133A>G splice_region AMPD3 6 42740 1.40384E-4 21370 0 NA