Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-207308507-G-A c.-84G>A 5_prime_UTR_premature_start_codon_gain ADAM23 2 15554 1.28584E-4 7777 0 5.51225E-4
2-207308522-C-T c.-69C>T 5_prime_UTR_premature_start_codon_gain ADAM23 1 20404 4.901E-5 10202 0 NA
2-207308608-C-T p.Ser6Ser synonymous ADAM23 1 30928 3.23332E-5 15464 0 NA
2-207308616-G-C p.Arg9Pro missense ADAM23 2 30960 6.45995E-5 15480 0 NA
2-207308622-C-T p.Pro11Leu missense ADAM23 6 31182 1.92419E-4 15591 1 NA
2-207308632-G-T p.Ala14Ala synonymous ADAM23 1 31434 3.18127E-5 15717 0 5.0813E-4
2-207308641-C-G p.Ser17Arg missense ADAM23 2 31862 6.27707E-5 15931 0 NA
2-207308655-C-T p.Ser22Phe missense ADAM23 1 32176 3.10791E-5 16088 0 NA
2-207308657-T-C p.Cys23Arg missense ADAM23 2 32308 6.19042E-5 16154 0 NA
2-207308668-A-G p.Gln26Gln synonymous ADAM23 1 32878 3.04155E-5 16439 0 6.74445E-5
2-207308669-C-T p.Arg27Cys missense ADAM23 2 32940 6.07165E-5 16470 0 2.01532E-4
2-207308677-C-T p.Pro29Pro synonymous ADAM23 1 33488 2.98614E-5 16744 0 NA
2-207308677-C-A p.Pro29Pro synonymous ADAM23 1 33488 2.98614E-5 16744 0 NA
2-207308678-G-A p.Ala30Thr missense ADAM23 2 33456 5.978E-5 16728 0 NA
2-207308695-C-G p.Ala35Ala synonymous ADAM23 2 35966 5.56081E-5 17983 0 NA
2-207308696-A-G p.Ser36Gly missense ADAM23 1 35888 2.78645E-5 17944 0 NA
2-207308699-G-T p.Ala37Ser missense ADAM23 1 36734 2.72227E-5 18367 0 5.24898E-5
2-207308700-C-T p.Ala37Val missense ADAM23 13 36936 3.5196E-4 18468 0 5.58696E-4
2-207308704-G-A p.Pro38Pro synonymous ADAM23 2 37138 5.38532E-5 18569 0 NA
2-207308706-C-G p.Ala39Gly missense ADAM23 2 37300 5.36193E-5 18650 0 NA
2-207308707-C-T p.Ala39Ala synonymous ADAM23 4 37366 1.07049E-4 18683 0 0.00315259
2-207308708-C-G p.Arg40Gly missense ADAM23 1 37386 2.6748E-5 18693 0 NA
2-207308711-A-C p.Thr41Pro missense ADAM23 1 37472 2.66866E-5 18736 0 NA
2-207308716-G-A p.Pro42Pro synonymous ADAM23 1 38186 2.61876E-5 19093 0 1.45717E-5
2-207308732-C-G p.Leu48Val missense ADAM23 3 39276 7.63825E-5 19638 0 NA
2-207308734-C-G p.Leu48Leu synonymous ADAM23 3 39364 7.62118E-5 19682 0 NA
2-207308777-C-T p.Arg63Cys missense ADAM23 1 39958 2.50263E-5 19979 0 3.20102E-5
2-207308780-G-T p.Ala64Ser missense ADAM23 1 39634 2.52309E-5 19817 0 3.20225E-5
2-207308789-G-C p.Ala67Pro missense ADAM23 1 39670 2.5208E-5 19835 0 NA
2-207310027-C-T c.215-4C>T splice_region ADAM23 4 83262 4.80411E-5 41631 0 3.98448E-6
2-207310035-G-A p.Pro73Pro synonymous ADAM23 2 83286 2.40136E-5 41643 0 3.18715E-5
2-207310055-A-G p.Glu80Gly missense ADAM23 2 83306 2.40079E-5 41653 0 3.29891E-5
2-207310062-T-A p.Asn82Lys missense ADAM23 1 83310 1.20034E-5 41655 0 1.64908E-5
2-207310064-T-C p.Leu83Ser missense ADAM23 1 83312 1.20031E-5 41656 0 3.1839E-5
2-207310078-G-A p.Asp88Asn missense ADAM23 1 83320 1.20019E-5 41660 0 NA
2-207310088-A-G p.Asn91Ser missense ADAM23 1 83314 1.20028E-5 41657 0 3.97668E-6
2-207310092-A-G p.Thr92Thr synonymous ADAM23 4 83314 4.80111E-5 41657 0 3.1841E-5
2-207310100-A-C p.Gln95Pro missense ADAM23 1 83308 1.20036E-5 41654 0 NA
2-207310101-G-T p.Gln95His missense ADAM23 1 83308 1.20036E-5 41654 0 1.98839E-5
2-207310135-A-G p.Met107Val missense ADAM23 125 83278 0.001501 41639 1 0.004375
2-207310147-A-G p.Ile111Val missense ADAM23 2 83224 2.40315E-5 41612 0 7.95475E-6
2-207310148-T-C p.Ile111Thr missense ADAM23 2 83226 2.4031E-5 41613 0 1.65076E-5
2-207310155-G-A p.Leu113Leu synonymous ADAM23 1 83204 1.20187E-5 41602 0 8.25655E-6
2-207310164-A-T p.Arg116Ser missense ADAM23 1 83186 1.20213E-5 41593 0 NA
2-207310167-C-T p.Leu117Leu synonymous ADAM23 3 83176 3.60681E-5 41588 0 2.4795E-5
2-207310170-A-G p.Ile118Met missense ADAM23 176 83174 0.00211605 41587 0 0.0025
2-207310175-A-G p.Tyr120Cys missense ADAM23 2 83134 2.40575E-5 41567 0 1.59148E-5
2-207310177-A-C p.Ile121Leu missense ADAM23 38 83128 4.57126E-4 41564 0 5.05288E-4
2-207310181-A-G p.Asn122Ser missense ADAM23 1 83100 1.20337E-5 41550 0 5.03525E-4
2-207310182-C-T p.Asn122Asn synonymous ADAM23 2 83100 2.40674E-5 41550 0 NA
2-207310189-T-G p.Ser125Ala missense ADAM23 544 83010 0.00655343 41505 5 0.0135952
2-207310189-TC-AT p.Ser125Met missense ADAM23 1 83030 1.20438E-5 41515 0 NA
2-207310190-C-T p.Ser125Leu missense ADAM23 2 83022 2.409E-5 41511 0 3.18552E-5
2-207310211-T-A p.Leu132His missense ADAM23 1 82838 1.20718E-5 41419 0 NA
2-207310230-C-G p.His138Gln missense ADAM23 1 82550 1.21139E-5 41275 0 6.37024E-5
2-207310241-A-T p.His142Leu missense ADAM23 1 82290 1.21521E-5 41145 0 NA
2-207345948-A-T c.433-8A>T splice_region ADAM23 1 82760 1.20831E-5 41380 0 8.38279E-6
2-207345952-A-G c.433-4A>G splice_region ADAM23 2 82764 2.41651E-5 41382 0 2.50937E-5
2-207345957-C-G p.Ala145Gly missense+splice_region ADAM23 6 82780 7.24813E-5 41390 0 3.50296E-4
2-207345962-C-T p.His147Tyr missense ADAM23 22 82796 2.65713E-4 41398 0 5.03525E-4
2-207345968-G-T p.Ala149Ser missense ADAM23 2 82776 2.41616E-5 41388 0 1.61892E-5
2-207345970-C-T p.Ala149Ala synonymous ADAM23 2 82786 2.41587E-5 41393 0 NA
2-207345989-G-C p.Glu156Gln missense ADAM23 1 82744 1.20855E-5 41372 0 NA
2-207345994-C-T p.Ala157Ala synonymous ADAM23 2 82748 2.41698E-5 41374 0 1.21693E-5
2-207345997-C-T p.Phe158Phe synonymous ADAM23 7 82746 8.45962E-5 41373 0 6.25E-4
2-207345998-G-A p.Gly159Ser missense ADAM23 38 82714 4.59414E-4 41357 1 0.00121035
2-207346009-C-T p.Phe162Phe synonymous ADAM23 1 82704 1.20913E-5 41352 0 NA
2-207395601-C-T c.510-8C>T splice_region ADAM23 2 82998 2.4097E-5 41499 0 1.5958E-5
2-207395605-G-A c.510-4G>A splice_region ADAM23 3 83018 3.61367E-5 41509 0 3.98756E-6
2-207395621-T-C p.Ser174Ser synonymous ADAM23 4 83116 4.81255E-5 41558 0 6.25E-4
2-207395631-G-A p.Val178Met missense ADAM23 2 83118 2.40622E-5 41559 0 5.03525E-4
2-207395641-A-G p.His181Arg missense ADAM23 1 83102 1.20334E-5 41551 0 4.77772E-5
2-207395666-C-T p.Tyr189Tyr synonymous ADAM23 1 83028 1.20441E-5 41514 0 NA
2-207395676-C-T c.573+4C>T splice_region ADAM23 26 82920 3.13555E-4 41460 0 3.19183E-5
2-207395677-G-A c.573+5G>A splice_region ADAM23 16 82908 1.92985E-4 41454 0 4.46942E-4
2-207395677-G-C c.573+5G>C splice_region ADAM23 1 82908 1.20616E-5 41454 0 NA
2-207406771-T-C c.574-5T>C splice_region ADAM23 1 83280 1.20077E-5 41640 0 NA
2-207406776-G-A p.Gly192Ser missense+splice_region ADAM23 1 83304 1.20042E-5 41652 0 NA
2-207406777-G-A p.Gly192Asp missense+splice_region ADAM23 1 83310 1.20034E-5 41655 0 3.9776E-6
2-207406814-C-G p.Gly204Gly synonymous ADAM23 1 83328 1.20008E-5 41664 0 NA
2-207406814-C-T p.Gly204Gly synonymous ADAM23 2 83328 2.40015E-5 41664 0 3.1837E-5
2-207406815-G-A p.Val205Ile missense ADAM23 2 83332 2.40004E-5 41666 0 1.98856E-5
2-207406819-A-C p.Lys206Thr missense ADAM23 2 83334 2.39998E-5 41667 0 NA
2-207406828-A-G p.Lys209Arg missense ADAM23 16 83332 1.92003E-4 41666 0 2.22859E-4
2-207406843-C-T p.Thr214Ile missense ADAM23 1 83330 1.20005E-5 41665 0 NA
2-207406844-C-T p.Thr214Thr synonymous ADAM23 1 83330 1.20005E-5 41665 0 NA
2-207407977-T-C p.His219His splice_region+synonymous ADAM23 1 83210 1.20178E-5 41605 0 3.97905E-6
2-207407981-A-T p.Met221Leu missense ADAM23 3 83218 3.60499E-5 41609 0 5.03525E-4
2-207407982-T-C p.Met221Thr missense ADAM23 2 83218 2.40333E-5 41609 0 1.65186E-5
2-207407989-A-G p.Glu223Glu synonymous ADAM23 1 83228 1.20152E-5 41614 0 NA
2-207408002-G-A p.Val228Met missense ADAM23 1 83234 1.20143E-5 41617 0 2.47664E-5
2-207408012-T-C p.Ile231Thr missense ADAM23 1 83242 1.20132E-5 41621 0 NA
2-207408024-A-C p.Glu235Ala missense ADAM23 5 83218 6.00832E-5 41609 0 1.91083E-4
2-207412145-T-C c.721-8T>C splice_region ADAM23 2 82956 2.41092E-5 41478 0 3.1837E-5
2-207412155-A-G p.Lys241Lys splice_region+synonymous ADAM23 4 83066 4.81545E-5 41533 0 1.20209E-5
2-207412158-C-T p.Ser242Ser synonymous ADAM23 1 83082 1.20363E-5 41541 0 3.30825E-5
2-207412166-G-A p.Arg245Gln missense ADAM23 1 83142 1.20276E-5 41571 0 7.99386E-6
2-207412174-A-G p.Ile248Val missense ADAM23 1 83174 1.2023E-5 41587 0 3.99122E-6
2-207412175-T-C p.Ile248Thr missense ADAM23 1 83174 1.2023E-5 41587 0 7.98136E-6
2-207412199-A-G p.Gln256Arg missense ADAM23 4 83176 4.80908E-5 41588 0 5.05051E-4
2-207412205-C-T p.Ser258Phe missense ADAM23 1 83176 1.20227E-5 41588 0 NA
2-207412216-A-G p.Lys262Glu missense ADAM23 3 83170 3.60707E-5 41585 0 3.9954E-6
2-207412222-C-T p.Leu264Phe missense ADAM23 1 83154 1.20259E-5 41577 0 3.99696E-6
2-207412223-T-C p.Leu264Pro missense+splice_region ADAM23 2 83156 2.40512E-5 41578 0 6.26566E-4
2-207413039-T-C p.Ser276Ser synonymous ADAM23 2 83290 2.40125E-5 41645 0 4.01133E-6
2-207413050-G-C p.Trp280Ser missense ADAM23 2 83306 2.40079E-5 41653 0 1.66094E-5
2-207413070-G-A p.Ala287Thr missense ADAM23 2 83312 2.40061E-5 41656 0 4.05377E-6
2-207413085-G-A c.867+7G>A splice_region ADAM23 1 83284 1.20071E-5 41642 0 8.33973E-6
2-207414814-C-T c.868-5C>T splice_region ADAM23 23 81924 2.80748E-4 40962 0 2.63095E-4
2-207414815-G-A c.868-4G>A splice_region ADAM23 1 81964 1.22005E-5 40982 0 4.16008E-5
2-207414820-C-T p.Pro290Leu missense+splice_region ADAM23 1 82216 1.21631E-5 41108 0 NA
2-207414825-C-T p.Arg292Cys missense ADAM23 1 82282 1.21533E-5 41141 0 6.25E-4
2-207414826-G-A p.Arg292His missense ADAM23 1 82316 1.21483E-5 41158 0 1.08965E-4
2-207414828-G-T p.Gly293Cys missense ADAM23 1 82378 1.21392E-5 41189 0 NA
2-207414862-T-G p.Met304Arg missense ADAM23 1 82540 1.21153E-5 41270 0 4.08844E-6
2-207414883-C-T p.Thr311Met missense+splice_region ADAM23 1 82428 1.21318E-5 41214 0 2.46958E-5
2-207414890-A-C c.933+6A>C splice_region ADAM23 2 82382 2.42771E-5 41191 0 NA
2-207422152-A-G p.Tyr312Cys missense+splice_region ADAM23 1 83204 1.20187E-5 41602 0 7.95653E-6
2-207422164-G-A p.Arg316His missense ADAM23 2 83198 2.4039E-5 41599 0 3.18512E-5
2-207422167-C-T p.Ser317Phe missense ADAM23 1 83210 1.20178E-5 41605 0 3.97817E-6
2-207422171-T-A p.Ser318Ser synonymous ADAM23 1 83204 1.20187E-5 41602 0 1.59165E-4
2-207422172-C-T p.His319Tyr missense ADAM23 4 83208 4.80723E-5 41604 0 1.19326E-5
2-207422182-C-T p.Thr322Ile missense ADAM23 1 83222 1.20161E-5 41611 0 NA
2-207422193-G-T p.Ala326Ser missense ADAM23 1 83226 1.20155E-5 41613 0 3.97769E-6
2-207422195-A-C p.Ala326Ala synonymous ADAM23 1 83214 1.20172E-5 41607 0 3.1837E-5
2-207424690-G-T p.Glu339Asp missense ADAM23 4 83276 4.8033E-5 41638 0 0.00100705
2-207424697-A-C p.Asn342His missense ADAM23 1 83284 1.20071E-5 41642 0 NA
2-207424705-G-C p.Arg344Ser missense ADAM23 1 83288 1.20065E-5 41644 0 3.98324E-6
2-207424744-T-A p.Asp357Glu missense ADAM23 1 83238 1.20137E-5 41619 0 3.97823E-6
2-207424748-A-G p.Ile359Val missense ADAM23 3 83242 3.60395E-5 41621 0 NA
2-207424752-A-G p.Asp360Gly missense ADAM23 3 83240 3.60404E-5 41620 0 3.18695E-5
2-207424761-C-G p.Thr363Ser missense ADAM23 1 83222 1.20161E-5 41611 0 NA
2-207424782-A-C p.His370Pro missense ADAM23 2 83190 2.40414E-5 41595 0 NA
2-207424799-C-T p.Arg376Trp missense ADAM23 12 83100 1.44404E-4 41550 0 6.3678E-5
2-207424800-G-A p.Arg376Gln missense ADAM23 2 83096 2.40685E-5 41548 0 7.43974E-5
2-207424804-G-A p.Gln377Gln synonymous ADAM23 2 83062 2.40784E-5 41531 0 NA
2-207424806-G-A p.Arg378His missense ADAM23 10 83048 1.20412E-4 41524 0 3.31532E-5
2-207424812-A-G p.Lys380Arg missense ADAM23 1 83034 1.20433E-5 41517 0 NA
2-207424818-A-C p.His382Pro missense ADAM23 1 82980 1.20511E-5 41490 0 NA
2-207424827-C-T p.Ala385Val missense ADAM23 2 82862 2.41365E-5 41431 0 NA
2-207424828-T-C p.Ala385Ala synonymous ADAM23 1 82872 1.20668E-5 41436 0 3.99393E-6
2-207424835-C-T p.Leu388Phe missense ADAM23 5 82782 6.03996E-5 41391 0 3.35734E-5
2-207424840-C-T p.Ile389Ile splice_region+synonymous ADAM23 1 82698 1.20922E-5 41349 0 8.43387E-5
2-207425854-G-A p.Arg391Gln missense+splice_region ADAM23 1 83158 1.20253E-5 41579 0 3.18979E-5
2-207425856-G-A p.Val392Met missense ADAM23 1 83160 1.2025E-5 41580 0 8.24892E-6
2-207425867-C-T p.His395His synonymous ADAM23 1 83202 1.20189E-5 41601 0 NA
2-207425900-T-C p.Gly406Gly synonymous ADAM23 1 83274 1.20085E-5 41637 0 NA
2-207425901-G-A p.Val407Ile missense ADAM23 2 83272 2.40177E-5 41636 0 NA
2-207425903-CTGTT-C p.Cys408fs frameshift ADAM23 1 83272 1.20088E-5 41636 0 NA
2-207425910-C-T p.Arg410Cys missense ADAM23 1 83268 1.20094E-5 41634 0 6.25E-4
2-207425911-G-A p.Arg410His missense ADAM23 3 83266 3.60291E-5 41633 0 7.41705E-5
2-207426939-A-G p.Met423Val missense ADAM23 1 83312 1.20031E-5 41656 0 NA
2-207426961-C-T p.Ser430Leu missense ADAM23 1 83292 1.2006E-5 41646 0 1.64769E-5
2-207426962-G-T p.Ser430Ser synonymous ADAM23 2 83290 2.40125E-5 41645 0 NA
2-207426962-G-A p.Ser430Ser synonymous ADAM23 1 83290 1.20062E-5 41645 0 1.19327E-5
2-207426992-A-G p.Gln440Gln synonymous ADAM23 1 83292 1.2006E-5 41646 0 8.23913E-6
2-207427013-G-A p.Lys447Lys synonymous ADAM23 1 83264 1.201E-5 41632 0 8.24375E-6
2-207429750-A-G p.Asp451Gly missense ADAM23 1 83218 1.20166E-5 41609 0 NA
2-207429763-C-T p.Ser455Ser synonymous ADAM23 1 83220 1.20163E-5 41610 0 1.64764E-5
2-207429775-C-T p.Cys459Cys synonymous ADAM23 1 83216 1.20169E-5 41608 0 NA
2-207429776-A-G p.Ile460Val missense ADAM23 1 83210 1.20178E-5 41605 0 NA
2-207429784-G-A p.Glu462Glu synonymous ADAM23 3 83216 3.60508E-5 41608 0 NA
2-207431942-C-T c.1395-5C>T splice_region ADAM23 1 83072 1.20378E-5 41536 0 4.00879E-6
2-207431947-G-A p.Gly465Gly splice_region+synonymous ADAM23 1 83118 1.20311E-5 41559 0 NA
2-207431950-G-A p.Val466Val synonymous ADAM23 2 83156 2.40512E-5 41578 0 3.18552E-5
2-207431961-G-A p.Arg470Gln missense ADAM23 3 83174 3.6069E-5 41587 0 3.18593E-5
2-207432021-C-G p.Ala490Gly missense ADAM23 1 83140 1.20279E-5 41570 0 3.98124E-6
2-207432041-A-G p.Thr497Ala missense ADAM23 6 83076 7.2223E-5 41538 0 4.96261E-5
2-207432043-A-G p.Thr497Thr synonymous ADAM23 1 83062 1.20392E-5 41531 0 NA
2-207435464-C-T p.Leu499Leu splice_region+synonymous ADAM23 2 83266 2.40194E-5 41633 0 8.24974E-6
2-207435464-C-G p.Leu499Val missense+splice_region ADAM23 2 83266 2.40194E-5 41633 0 NA
2-207435466-A-G p.Leu499Leu splice_region+synonymous ADAM23 3 83268 3.60282E-5 41634 0 3.29951E-5
2-207435474-C-T p.Pro502Leu missense ADAM23 11 83276 1.32091E-4 41638 0 1.64913E-4
2-207435476-A-T p.Thr503Ser missense ADAM23 2 83280 2.40154E-5 41640 0 8.24457E-6
2-207435477-C-T p.Thr503Met missense ADAM23 3 83282 3.60222E-5 41641 0 9.55353E-5
2-207435478-G-A p.Thr503Thr synonymous ADAM23 1 83286 1.20068E-5 41643 0 8.24416E-6
2-207435490-T-C p.Asn507Asn synonymous ADAM23 1 83304 1.20042E-5 41652 0 NA
2-207435493-A-T p.Gly508Gly synonymous ADAM23 1 83302 1.20045E-5 41651 0 NA
2-207435514-G-A p.Glu515Glu synonymous ADAM23 2 83310 2.40067E-5 41655 0 3.18471E-5
2-207435530-C-T p.His521Tyr missense ADAM23 1 83300 1.20048E-5 41650 0 NA
2-207436482-C-A p.Ser533Tyr missense ADAM23 12 83344 1.43982E-4 41672 1 2.47121E-5
2-207436483-C-T p.Ser533Ser synonymous ADAM23 2 83342 2.39975E-5 41671 0 NA
2-207436486-C-T p.Leu534Leu synonymous ADAM23 1 83354 1.1997E-5 41677 0 NA
2-207436488-C-T p.Ser535Phe missense ADAM23 1 83358 1.19964E-5 41679 0 NA
2-207436492-C-T p.Asn536Asn synonymous ADAM23 12 83362 1.4395E-4 41681 0 6.36943E-5
2-207436495-G-A p.Gly537Gly synonymous ADAM23 2 83372 2.39889E-5 41686 0 NA
2-207436508-G-A p.Asp542Asn missense ADAM23 1 83372 1.19944E-5 41686 0 3.18431E-5
2-207436510-C-T p.Asp542Asp synonymous ADAM23 2 83368 2.399E-5 41684 0 5.03525E-4
2-207436511-G-T p.Gly543Trp missense ADAM23 1 83370 1.19947E-5 41685 0 3.97671E-6
2-207436513-G-T p.Gly543Gly synonymous ADAM23 3 83370 3.59842E-5 41685 0 7.15774E-5
2-207436513-G-C p.Gly543Gly synonymous ADAM23 1 83370 1.19947E-5 41685 0 NA
2-207436527-A-G p.Asn548Ser missense ADAM23 2 83370 2.39894E-5 41685 0 3.97693E-6
2-207436529-A-G p.Thr549Ala missense ADAM23 1 83372 1.19944E-5 41686 0 3.97716E-6
2-207436545-GT-G c.1656+6delT splice_region ADAM23 1 83346 1.19982E-5 41673 0 NA
2-207437844-G-A p.Gln554Gln synonymous ADAM23 1 83336 1.19996E-5 41668 0 NA
2-207437846-C-T p.Pro555Leu missense ADAM23 2 83342 2.39975E-5 41671 0 7.95431E-6
2-207437854-T-C p.Tyr558His missense ADAM23 3 83340 3.59971E-5 41670 0 5.03525E-4
2-207437862-C-T p.Cys560Cys synonymous ADAM23 1 83352 1.19973E-5 41676 0 8.23642E-6
2-207437903-C-G p.Thr574Ser missense ADAM23 1 83346 1.19982E-5 41673 0 NA
2-207437924-G-A c.1737+5G>A splice_region ADAM23 2 83316 2.4005E-5 41658 0 9.55597E-5
2-207437926-C-T c.1737+7C>T splice_region ADAM23 11 83302 1.3205E-4 41651 2 2.23086E-4
2-207437927-G-A c.1737+8G>A splice_region ADAM23 2 83300 2.40096E-5 41650 0 1.27413E-4
2-207452041-T-C c.1738-8T>C splice_region ADAM23 2 82676 2.41908E-5 41338 0 4.01242E-6
2-207452046-C-T c.1738-3C>T splice_region ADAM23 1 82772 1.20814E-5 41386 0 8.25682E-6
2-207452056-C-T p.Pro582Leu missense ADAM23 1 82858 1.20688E-5 41429 0 8.25355E-6
2-207452058-A-C p.Asn583His missense ADAM23 3 82890 3.61925E-5 41445 0 8.02936E-6
2-207452061-C-A p.Leu584Ile missense ADAM23 1 82900 1.20627E-5 41450 0 6.37186E-5
2-207452075-C-T p.Asp588Asp synonymous ADAM23 15 82932 1.80871E-4 41466 0 7.01262E-4
2-207452089-A-G p.Asn593Ser missense ADAM23 3 82948 3.61672E-5 41474 0 3.18471E-5
2-207452091-C-G p.Gln594Glu missense ADAM23 2 82954 2.41097E-5 41477 0 NA
2-207452807-G-C c.1789-8G>C splice_region ADAM23 1 82850 1.207E-5 41425 0 NA
2-207452818-C-T p.Arg598Cys missense ADAM23 2 82904 2.41243E-5 41452 0 8.24076E-6
2-207452828-A-G p.Asn601Ser missense ADAM23 1 82920 1.20598E-5 41460 0 3.18492E-5
2-207452831-G-C p.Gly602Ala missense ADAM23 1 82922 1.20595E-5 41461 0 3.18552E-5
2-207452850-C-A p.Asp608Glu missense ADAM23 5 82878 6.03296E-5 41439 0 2.47268E-5
2-207452853-C-T p.Asn609Asn synonymous ADAM23 1 82862 1.20683E-5 41431 0 3.18492E-5
2-207452885-CG-C c.1852+8delG splice_region ADAM23 1 82662 1.20975E-5 41331 0 NA
2-207452886-G-C c.1852+8G>C splice_region ADAM23 2 82628 2.42049E-5 41314 0 8.2802E-6
2-207452886-G-A c.1852+8G>A splice_region ADAM23 5 82628 6.05122E-5 41314 0 6.36983E-5
2-207454128-A-G c.1853-5A>G splice_region ADAM23 1 82996 1.20488E-5 41498 0 NA
2-207454143-G-A p.Gly621Gly synonymous ADAM23 1 83074 1.20375E-5 41537 0 8.93033E-6
2-207454146-T-C p.Ser622Ser synonymous ADAM23 1 83086 1.20357E-5 41543 0 1.1976E-5
2-207454154-T-C p.Phe625Ser missense ADAM23 7 83108 8.42278E-5 41554 0 4.7848E-5
2-207454176-A-G p.Thr632Thr synonymous ADAM23 2 83206 2.40367E-5 41603 0 5.07451E-5
2-207454183-A-C p.Thr635Pro missense ADAM23 1 83208 1.20181E-5 41604 0 NA
2-207454200-C-T p.Cys640Cys synonymous ADAM23 15 83218 1.80249E-4 41609 0 8.65238E-4
2-207454206-G-A p.Lys642Lys synonymous ADAM23 1 83218 1.20166E-5 41609 0 NA
2-207454207-G-A p.Asp643Asn missense ADAM23 7 83230 8.41043E-5 41615 0 2.55728E-5
2-207454217-G-A p.Arg646Gln missense ADAM23 5 83238 6.00687E-5 41619 0 6.36821E-5
2-207454235-A-G p.Lys652Arg missense ADAM23 1 83184 1.20215E-5 41592 0 3.99763E-6
2-207454238-A-G p.His653Arg missense+splice_region ADAM23 2 83176 2.40454E-5 41588 0 3.1835E-5
2-207457334-T-C c.1959-7T>C splice_region ADAM23 1 83320 1.20019E-5 41660 0 4.12025E-5
2-207457335-G-T c.1959-6G>T splice_region ADAM23 2 83326 2.40021E-5 41663 0 NA
2-207457338-C-T c.1959-3C>T splice_region ADAM23 1 83328 1.20008E-5 41664 0 NA
2-207457363-C-T p.Leu661Phe missense ADAM23 2 83364 2.39912E-5 41682 0 NA
2-207457371-C-G p.Thr663Thr synonymous ADAM23 1 83370 1.19947E-5 41685 0 2.06002E-4
2-207457373-A-G p.Asn664Ser missense ADAM23 1 83364 1.19956E-5 41682 0 3.18695E-5
2-207457379-C-T p.Thr666Ile missense ADAM23 3 83356 3.59902E-5 41678 0 0.00100705
2-207457382-G-A p.Arg667Gln missense ADAM23 2 83362 2.39917E-5 41681 0 3.18959E-5
2-207457390-C-T p.Arg670Cys missense ADAM23 2 83364 2.39912E-5 41682 0 8.24076E-6
2-207457410-T-C p.Gly676Gly synonymous ADAM23 9 83370 1.07953E-4 41685 0 3.18512E-5
2-207457412-A-G p.Glu677Gly missense ADAM23 1 83366 1.19953E-5 41683 0 NA
2-207457435-C-T p.His685Tyr missense ADAM23 1 83362 1.19959E-5 41681 0 NA
2-207457440-A-T p.Gln686His missense ADAM23 1 83362 1.19959E-5 41681 0 NA
2-207457445-G-A p.Arg688Gln missense ADAM23 1 83356 1.19967E-5 41678 0 2.7856E-5
2-207457449-G-A p.Val689Val synonymous ADAM23 1 83346 1.19982E-5 41673 0 NA
2-207459461-T-C p.Ser693Ser splice_region+synonymous ADAM23 133 83270 0.00159721 41635 0 0.00331189
2-207459467-C-T p.Ala695Ala synonymous ADAM23 9500 83108 0.114309 41554 635 0.140738
2-207459481-A-G p.Asp700Gly missense ADAM23 2 83324 2.40027E-5 41662 0 3.98016E-6
2-207459488-T-C p.Asp702Asp synonymous ADAM23 3 83342 3.59963E-5 41671 0 3.9789E-6
2-207459491-G-A p.Thr703Thr synonymous ADAM23 2 83350 2.39952E-5 41675 0 3.97896E-5
2-207459508-A-G p.Glu709Gly missense ADAM23 1 83336 1.19996E-5 41668 0 6.36943E-5
2-207459517-C-T p.Thr712Met missense ADAM23 1 83338 1.19993E-5 41669 0 5.76644E-5
2-207459529-C-G p.Pro716Arg missense ADAM23 2 83320 2.40038E-5 41660 0 3.97912E-6
2-207459530-G-A p.Pro716Pro synonymous ADAM23 3 83324 3.6004E-5 41662 0 3.29506E-5
2-207459534-A-G p.Met718Val missense ADAM23 1 83326 1.20011E-5 41663 0 NA
2-207459547-A-G p.Asp722Gly missense ADAM23 1 83314 1.20028E-5 41657 0 NA
2-207459550-G-A p.Arg723Gln missense ADAM23 3 83306 3.60118E-5 41653 0 4.37661E-5
2-207459585-A-C p.Ser735Arg missense ADAM23 3 83316 3.60075E-5 41658 0 5.17195E-5
2-207459593-A-G p.Pro737Pro synonymous ADAM23 1 83320 1.20019E-5 41660 0 3.18674E-5
2-207459596-C-T p.Leu738Leu synonymous ADAM23 1 83328 1.20008E-5 41664 0 NA
2-207459608-T-C p.Gly742Gly synonymous ADAM23 3 83316 3.60075E-5 41658 0 1.64818E-5
2-207459620-G-A p.Ser746Ser synonymous ADAM23 15 83290 1.80094E-4 41645 0 0.00454087
2-207460775-G-A p.Val750Met missense+splice_region ADAM23 1 82712 1.20901E-5 41356 0 NA
2-207460782-G-A p.Ser752Asn missense ADAM23 1 82712 1.20901E-5 41356 0 NA
2-207460794-C-G p.Thr756Ser missense ADAM23 1 82748 1.20849E-5 41374 0 7.17715E-5
2-207460818-C-T p.Ala764Val missense ADAM23 4 82728 4.83512E-5 41364 0 1.6642E-5
2-207460832-A-G p.Ser769Gly missense ADAM23 2 82754 2.4168E-5 41377 0 3.98343E-6
2-207460838-C-T p.Arg771Trp missense ADAM23 1 82756 1.20837E-5 41378 0 4.16188E-5
2-207460839-G-A p.Arg771Gln missense ADAM23 2 82764 2.41651E-5 41382 0 2.4975E-5
2-207460855-C-A p.Asn776Lys missense ADAM23 3 82792 3.62354E-5 41396 0 4.1841E-5
2-207460860-A-AC p.Lys781fs frameshift ADAM23 1 82712 1.20901E-5 41356 0 6.22079E-4
2-207460860-A-C p.His778Pro missense ADAM23 3 82736 3.62599E-5 41368 0 NA
2-207460864-C-A p.Pro779Pro synonymous ADAM23 3 82788 3.62371E-5 41394 0 8.41793E-6
2-207460864-C-G p.Pro779Pro synonymous ADAM23 2 82788 2.41581E-5 41394 0 NA
2-207460865-C-G p.Pro780Ala missense ADAM23 265 82774 0.00320149 41387 0 0.020625
2-207460865-C-A p.Pro780Thr missense ADAM23 2 82784 2.41593E-5 41392 0 3.98562E-6
2-207460866-C-A p.Pro780His missense ADAM23 30 82780 3.62406E-4 41390 0 3.5043E-4
2-207460866-C-G p.Pro780Arg missense ADAM23 6 82780 7.24813E-5 41390 0 1.07608E-4
2-207460866-C-T p.Pro780Leu missense ADAM23 1 82780 1.20802E-5 41390 0 8.43939E-6
2-207460867-C-A p.Pro780Pro synonymous ADAM23 5 82792 6.03923E-5 41396 0 9.55779E-5
2-207460867-C-T p.Pro780Pro synonymous ADAM23 2 82792 2.41569E-5 41396 0 3.18593E-5
2-207460867-C-G p.Pro780Pro synonymous ADAM23 1 82792 1.20785E-5 41396 0 8.45066E-6
2-207460873-T-C p.Asp782Asp synonymous ADAM23 1 82768 1.2082E-5 41384 0 NA
2-207470506-C-T c.2360-8C>T splice_region ADAM23 1 48760 2.05086E-5 24380 0 NA
2-207470516-A-T p.Asn788Tyr missense+splice_region ADAM23 1 49362 2.02585E-5 24681 0 7.34624E-6
2-207470517-A-G p.Asn788Ser missense ADAM23 1 49394 2.02454E-5 24697 0 NA
2-207470529-G-A p.Ser792Asn missense ADAM23 1 49928 2.00288E-5 24964 0 NA
2-207470545-C-T p.Ala797Ala synonymous ADAM23 102 50840 0.00200629 25420 1 0.005625
2-207470546-G-A p.Val798Met missense ADAM23 4 51034 7.83791E-5 25517 0 5.21345E-5
2-207470551-C-T p.Ala799Ala synonymous ADAM23 2 51364 3.89378E-5 25682 0 6.36862E-5
2-207470552-G-A p.Gly800Ser missense ADAM23 4 51404 7.7815E-5 25702 0 0.00169018
2-207470553-G-A p.Gly800Asp missense ADAM23 1 51476 1.94265E-5 25738 0 NA
2-207470558-A-T p.Ile802Phe missense ADAM23 5 51760 9.65997E-5 25880 0 0.001875
2-207470570-G-T p.Gly806Trp missense ADAM23 4 52216 7.66049E-5 26108 0 5.62565E-5
2-207470572-G-A p.Gly806Gly synonymous ADAM23 1 52300 1.91205E-5 26150 0 8.18679E-6
2-207470595-G-A p.Trp814* stop_gained ADAM23 4 52616 7.60225E-5 26308 0 1.15801E-4
2-207470606-T-G c.2450+2T>G splice_donor ADAM23 3 52702 5.69238E-5 26351 0 1.09818E-4
2-207474653-C-T p.Leu793Leu synonymous ADAM23 3 82054 3.65613E-5 41027 0 NA
2-207474666-A-C p.Ile798Leu missense ADAM23 2 81986 2.43944E-5 40993 0 NA
2-207474668-C-T p.Ile798Ile synonymous ADAM23 9 81970 1.09796E-4 40985 0 5.55299E-5
2-207474696-G-A p.Val808Ile missense ADAM23 1 81760 1.22309E-5 40880 0 9.55657E-5
2-207474699-C-G p.Leu809Val missense ADAM23 1 81712 1.22381E-5 40856 0 NA
2-207482307-G-A p.Val819Ile missense ADAM23 2 82548 2.42283E-5 41274 0 3.34292E-5
2-207482308-T-C p.Val819Ala missense ADAM23 5 82556 6.0565E-5 41278 0 8.08029E-6
2-207482311-A-G p.Lys820Arg missense ADAM23 5 82606 6.05283E-5 41303 0 1.00137E-4
2-207482324-C-T p.Ser794Leu missense ADAM23 5 82760 6.04157E-5 41380 0 3.33311E-5
2-207482325-G-A p.Asp825Asn missense ADAM23 1 82774 1.20811E-5 41387 0 1.20506E-5
2-207482329-C-G p.Pro826Arg missense ADAM23 4 82834 4.82893E-5 41417 0 NA
2-207482344-C-G p.Pro831Arg missense ADAM23 1 82930 1.20584E-5 41465 0 NA
2-207482346-A-C p.Ile832Leu missense ADAM23 1 82944 1.20563E-5 41472 0 NA
2-207482360-C-T p.Ala806Val missense ADAM23 3 83004 3.61428E-5 41502 0 4.32272E-5
2-207482361-G-A p.Ala806Ala synonymous ADAM23 2 83016 2.40917E-5 41508 0 6.36902E-5
2-207482372-A-T p.His810Leu missense ADAM23 1 83080 1.20366E-5 41540 0 NA
2-207482374-C-T p.Arg811Cys missense ADAM23 1 83080 1.20366E-5 41540 0 3.7303E-5
2-207482389-G-A p.Asp816Asn missense ADAM23 1 83158 1.20253E-5 41579 0 NA
2-207482391-T-C p.Asp816Asp synonymous ADAM23 1 83164 1.20244E-5 41582 0 NA
2-207482399-A-G p.Tyr819Cys missense ADAM23 1 83150 1.20265E-5 41575 0 2.25342E-5
2-207482405-T-C p.Ile821Thr missense ADAM23 1 83134 1.20288E-5 41567 0 4.14199E-6
2-207482410-G-A p.Ala823Thr missense ADAM23 141 83148 0.00169577 41574 2 0.0032482
2-207482430-A-G p.Leu829Leu synonymous ADAM23 4 83064 4.81556E-5 41532 0 1.9941E-5
2-207482436-T-C p.Ser831Ser synonymous ADAM23 5 83004 6.02381E-5 41502 0 3.68444E-5
2-207482564-G-A c.*213G>A splice_region ADAM23 1 74126 1.34905E-5 37063 0 6.37633E-5