Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-31102802-C-G c.-71-8C>G splice_region ADCYAP1R1 4 81056 4.93486E-5 40528 0 NA
7-31102802-C-T c.-71-8C>T splice_region ADCYAP1R1 1 81056 1.23371E-5 40528 0 NA
7-31102822-T-C c.-59T>C 5_prime_UTR_premature_start_codon_gain ADCYAP1R1 13 82278 1.58001E-4 41139 0 1.91192E-4
7-31102828-C-A c.-53C>A 5_prime_UTR_premature_start_codon_gain ADCYAP1R1 1 82434 1.21309E-5 41217 0 NA
7-31102837-C-T c.-44C>T 5_prime_UTR_premature_start_codon_gain ADCYAP1R1 3 82746 3.62555E-5 41373 0 5.973E-5
7-31102839-C-T c.-42C>T 5_prime_UTR_premature_start_codon_gain ADCYAP1R1 3 82800 3.62319E-5 41400 0 1.91083E-4
7-31102865-C-T c.-16C>T 5_prime_UTR_premature_start_codon_gain ADCYAP1R1 1 83070 1.2038E-5 41535 0 NA
7-31102893-G-A p.Val5Met missense ADCYAP1R1 2 83116 2.40628E-5 41558 0 3.18532E-5
7-31102898-C-T p.His6His synonymous ADCYAP1R1 2 83144 2.40547E-5 41572 0 5.76834E-5
7-31102903-C-T p.Ser8Phe missense ADCYAP1R1 2 83162 2.40494E-5 41581 0 3.29614E-5
7-31102914-C-G p.Leu12Val missense ADCYAP1R1 15 83172 1.80349E-4 41586 0 6.37064E-4
7-31102937-G-A c.51+6G>A splice_region ADCYAP1R1 1 83154 1.20259E-5 41577 0 3.97833E-6
7-31102938-G-A c.51+7G>A splice_region ADCYAP1R1 2 83138 2.40564E-5 41569 0 3.97852E-6
7-31104441-C-T c.52-6C>T splice_region ADCYAP1R1 264 82566 0.00319744 41283 1 0.0070086
7-31104456-A-T p.Met21Leu missense ADCYAP1R1 1 82796 1.20779E-5 41398 0 6.25E-4
7-31104476-C-G p.Phe27Leu missense ADCYAP1R1 2 82914 2.41214E-5 41457 0 NA
7-31104500-G-C p.Leu35Leu synonymous ADCYAP1R1 1 82886 1.20648E-5 41443 0 NA
7-31104520-A-G p.Asn42Ser missense ADCYAP1R1 278 82810 0.00335708 41405 3 0.00637424
7-31104524-G-A p.Glu43Glu synonymous ADCYAP1R1 1 82788 1.2079E-5 41394 0 NA
7-31104538-A-G p.Asn48Ser missense ADCYAP1R1 4 82678 4.83805E-5 41339 0 5.79455E-5
7-31104539-T-C p.Asn48Asn synonymous ADCYAP1R1 1 82674 1.20957E-5 41337 0 1.39733E-4
7-31104541-A-G p.Asp49Gly missense ADCYAP1R1 2 82636 2.42025E-5 41318 0 4.14329E-6
7-31104544-C-A p.Ser50Tyr missense ADCYAP1R1 1 82568 1.21112E-5 41284 0 NA
7-31104553-G-T c.157+1G>T splice_donor ADCYAP1R1 1 82422 1.21327E-5 41211 0 NA
7-31104555-G-A c.157+3G>A splice_region ADCYAP1R1 4 82390 4.85496E-5 41195 0 3.18471E-5
7-31117599-C-T c.158-7C>T splice_region ADCYAP1R1 9 82868 1.08606E-4 41434 0 3.20349E-4
7-31117601-C-T c.158-5C>T splice_region ADCYAP1R1 1 82926 1.20589E-5 41463 0 3.20041E-5
7-31117616-G-C p.Gly56Gly synonymous ADCYAP1R1 1 83098 1.2034E-5 41549 0 NA
7-31117618-T-C p.Met57Thr missense ADCYAP1R1 1 83098 1.2034E-5 41549 0 3.19857E-5
7-31117622-G-A p.Trp58* stop_gained ADCYAP1R1 1 83154 1.20259E-5 41577 0 3.19448E-5
7-31117634-G-A p.Thr62Thr synonymous ADCYAP1R1 265 83220 0.00318433 41610 0 0.0175
7-31117646-C-T p.Pro66Pro synonymous ADCYAP1R1 88 83258 0.00105696 41629 0 0.00453172
7-31117647-G-A p.Ala67Thr missense ADCYAP1R1 10 83246 1.20126E-4 41623 0 2.18168E-4
7-31117650-C-T p.His68Tyr missense ADCYAP1R1 1 83262 1.20103E-5 41631 0 6.25E-4
7-31117652-T-C p.His68His synonymous ADCYAP1R1 7 83274 8.40599E-5 41637 0 9.58711E-5
7-31117657-G-A p.Gly70Asp missense ADCYAP1R1 1 83260 1.20106E-5 41630 0 NA
7-31117669-T-G p.Leu74Arg missense+splice_region ADCYAP1R1 3 83268 3.60282E-5 41634 0 7.53516E-5
7-31117679-C-T p.Cys77Cys synonymous ADCYAP1R1 1 83260 1.20106E-5 41630 0 NA
7-31117684-A-G p.Glu79Gly missense ADCYAP1R1 1 83216 1.20169E-5 41608 0 NA
7-31117692-C-T p.Arg82* stop_gained ADCYAP1R1 1 83176 1.20227E-5 41588 0 4.00741E-6
7-31117693-G-A p.Arg82Gln missense ADCYAP1R1 1 83178 1.20224E-5 41589 0 6.25E-4
7-31117717-G-A c.265+4G>A splice_region ADCYAP1R1 4 82950 4.82218E-5 41475 0 2.55314E-4
7-31120224-T-G c.266-4T>G splice_region ADCYAP1R1 1 83222 1.20161E-5 41611 0 3.98877E-6
7-31120229-C-T p.Val89Val splice_region+synonymous ADCYAP1R1 1 83220 1.20163E-5 41610 0 1.59486E-5
7-31120237-C-T p.Thr92Ile missense ADCYAP1R1 1 83242 1.20132E-5 41621 0 NA
7-31120238-C-T p.Thr92Thr synonymous ADCYAP1R1 3 83242 3.60395E-5 41621 0 3.18715E-5
7-31120239-G-A p.Glu93Lys missense ADCYAP1R1 1 83232 1.20146E-5 41616 0 6.37349E-5
7-31120242-A-T p.Thr94Ser missense ADCYAP1R1 1 83250 1.2012E-5 41625 0 NA
7-31121337-AT-A p.Phe100fs frameshift ADCYAP1R1 2 83100 2.40674E-5 41550 0 3.18857E-5
7-31121343-G-C p.Gly101Ala missense ADCYAP1R1 3 83072 3.61133E-5 41536 0 8.30275E-6
7-31121347-C-T p.Asp102Asp synonymous ADCYAP1R1 4 83076 4.81487E-5 41538 0 NA
7-31121358-T-C p.Leu106Ser missense ADCYAP1R1 2 83002 2.40958E-5 41501 0 4.13291E-6
7-31121370-G-A c.328+1G>A splice_donor ADCYAP1R1 1 82924 1.20592E-5 41462 0 NA
7-31123753-C-T c.329-3C>T splice_region ADCYAP1R1 1 83296 1.20054E-5 41648 0 NA
7-31123757-C-A p.Asp110Glu missense+splice_region ADCYAP1R1 3 83312 3.60092E-5 41656 0 8.25151E-6
7-31123758-A-G p.Met111Val missense+splice_region ADCYAP1R1 4 83314 4.80111E-5 41657 1 2.4748E-5
7-31123759-T-C p.Met111Thr missense ADCYAP1R1 1 83320 1.20019E-5 41660 0 3.18593E-5
7-31123761-G-A p.Gly112Arg missense ADCYAP1R1 1 83322 1.20016E-5 41661 0 7.95912E-6
7-31123772-C-T p.Ser115Ser synonymous ADCYAP1R1 1 83334 1.19999E-5 41667 0 NA
7-31123784-G-A p.Thr119Thr synonymous ADCYAP1R1 26 83350 3.11938E-4 41675 0 0.00125
7-31123789-A-G p.Asp121Gly missense ADCYAP1R1 18 83352 2.15952E-4 41676 0 5.4147E-4
7-31123798-C-T p.Ser124Leu missense ADCYAP1R1 1 83358 1.19964E-5 41679 0 1.64832E-5
7-31123802-A-C p.Glu125Asp missense ADCYAP1R1 1 83368 1.1995E-5 41684 0 NA
7-31123803-C-T p.Pro126Ser missense ADCYAP1R1 1 83366 1.19953E-5 41683 0 8.24266E-6
7-31123846-A-G p.Glu140Gly missense ADCYAP1R1 1 83186 1.20213E-5 41593 0 7.95735E-6
7-31123854-A-G p.Thr143Ala missense ADCYAP1R1 5 83046 6.02076E-5 41523 0 0.0020141
7-31123859-G-A p.Gly144Gly synonymous ADCYAP1R1 1 82926 1.20589E-5 41463 0 NA
7-31123863-C-T p.Gln146* stop_gained ADCYAP1R1 1 82874 1.20665E-5 41437 0 8.28432E-6
7-31123868-GAG-AAA c.438+3_438+5delGAGinsAAA splice_region ADCYAP1R1 1 82764 1.20825E-5 41382 0 NA
7-31123870-G-C c.438+5G>C splice_region ADCYAP1R1 2 82756 2.41674E-5 41378 0 3.18674E-5
7-31124362-A-G p.Tyr150Cys missense ADCYAP1R1 1 83304 1.20042E-5 41652 0 NA
7-31124364-C-G p.Leu151Val missense ADCYAP1R1 2 83308 2.40073E-5 41654 0 NA
7-31124368-C-T p.Ser152Leu missense ADCYAP1R1 1 83308 1.20036E-5 41654 0 NA
7-31124376-G-T p.Ala155Ser missense ADCYAP1R1 89 83314 0.00106825 41657 0 8.56602E-4
7-31124378-C-T p.Ala155Ala synonymous ADCYAP1R1 3 83320 3.60058E-5 41660 0 1.27251E-4
7-31124387-G-A p.Thr158Thr synonymous ADCYAP1R1 6 83330 7.20029E-5 41665 0 3.18695E-5
7-31124417-C-T p.Leu168Leu synonymous ADCYAP1R1 3 83320 3.60058E-5 41660 0 1.59056E-5
7-31124438-T-C p.Leu175Leu synonymous ADCYAP1R1 1 83286 1.20068E-5 41643 0 8.2375E-6
7-31124442-C-T p.Arg177Cys missense ADCYAP1R1 1 83260 1.20106E-5 41630 0 3.29538E-5
7-31124443-G-A p.Arg177His missense ADCYAP1R1 9 83250 1.08108E-4 41625 0 6.76057E-5
7-31124446-T-G p.Phe178Cys missense ADCYAP1R1 3 83244 3.60386E-5 41622 0 1.98834E-5
7-31124447-C-G p.Phe178Leu missense+splice_region ADCYAP1R1 1 83236 1.2014E-5 41618 0 3.97681E-6
7-31124448-C-T p.Arg179Trp missense+splice_region ADCYAP1R1 2 83236 2.40281E-5 41618 0 5.03525E-4
7-31124449-G-A p.Arg179Gln missense+splice_region ADCYAP1R1 4 83226 4.80619E-5 41613 0 7.95412E-6
7-31124920-T-C c.537-5T>C splice_region ADCYAP1R1 4 83274 4.80342E-5 41637 0 3.18573E-5
7-31124925-G-A p.Arg179Arg splice_region+synonymous ADCYAP1R1 1 83292 1.2006E-5 41646 0 3.36259E-5
7-31124932-C-T p.His182Tyr missense ADCYAP1R1 1 83300 1.20048E-5 41650 0 NA
7-31124937-C-T p.Cys183Cys synonymous ADCYAP1R1 1 83298 1.20051E-5 41649 0 8.32847E-6
7-31124938-A-C p.Thr184Pro missense ADCYAP1R1 1 83302 1.20045E-5 41651 0 1.51326E-4
7-31124941-C-T p.Arg185Cys missense ADCYAP1R1 4 83308 4.80146E-5 41654 0 1.593E-5
7-31124956-A-G p.Met190Val missense ADCYAP1R1 1 83330 1.20005E-5 41665 0 NA
7-31124958-G-A p.Met190Ile missense ADCYAP1R1 8 83326 9.60085E-5 41663 0 9.55718E-5
7-31124973-G-C p.Ser195Ser synonymous ADCYAP1R1 1 83324 1.20013E-5 41662 0 3.97877E-6
7-31124977-A-G p.Met197Val missense ADCYAP1R1 1 83322 1.20016E-5 41661 0 NA
7-31124986-G-T p.Ala200Ser missense ADCYAP1R1 1 83310 1.20034E-5 41655 0 1.64957E-5
7-31124987-C-T p.Ala200Val missense ADCYAP1R1 2 83308 2.40073E-5 41654 0 3.18654E-5
7-31124988-G-C p.Ala200Ala synonymous ADCYAP1R1 2 83312 2.40061E-5 41656 0 2.47423E-5
7-31124994-C-T p.Ser202Ser synonymous ADCYAP1R1 14 83296 1.68075E-4 41648 0 1.7321E-4
7-31124995-G-A p.Val203Ile missense ADCYAP1R1 2 83300 2.40096E-5 41650 0 1.64959E-5
7-31125011-G-A p.Trp208* stop_gained ADCYAP1R1 1 83262 1.20103E-5 41631 0 3.97934E-6
7-31125023-C-T p.Ala212Val missense ADCYAP1R1 7 83230 8.41043E-5 41615 0 1.07526E-4
7-31125024-G-A p.Ala212Ala synonymous ADCYAP1R1 3 83222 3.60482E-5 41611 0 3.18492E-5
7-31125029-A-G p.Gln214Arg missense ADCYAP1R1 14 83204 1.68261E-4 41602 0 6.37064E-5
7-31125033-C-T p.Asp215Asp synonymous ADCYAP1R1 19 83170 2.28448E-4 41585 0 3.50408E-4
7-31125049-A-G p.Ile221Val missense ADCYAP1R1 1 83044 1.20418E-5 41522 0 NA
7-31125054-C-T p.Ser222Ser synonymous ADCYAP1R1 2 83000 2.40964E-5 41500 0 NA
7-31125056-C-G p.Thr223Ser missense+splice_region ADCYAP1R1 1 82964 1.20534E-5 41482 0 NA
7-31125998-G-A p.Val224Met missense+splice_region ADCYAP1R1 2 83160 2.405E-5 41580 0 NA
7-31126012-C-T p.Ala228Ala synonymous ADCYAP1R1 4 83244 4.80515E-5 41622 1 0.00125
7-31126013-G-A p.Val229Ile missense ADCYAP1R1 2 83240 2.40269E-5 41620 0 6.36943E-5
7-31126036-T-C p.Cys236Cys synonymous ADCYAP1R1 1 83290 1.20062E-5 41645 0 NA
7-31126066-C-T p.Ile246Ile synonymous ADCYAP1R1 2 83328 2.40015E-5 41664 0 5.41263E-4
7-31126066-C-A p.Ile246Ile synonymous ADCYAP1R1 1 83328 1.20008E-5 41664 0 1.19318E-5
7-31126088-C-T p.Leu254Leu synonymous ADCYAP1R1 2 83322 2.40033E-5 41661 0 3.97706E-6
7-31126108-C-T p.Phe260Phe synonymous ADCYAP1R1 2 83328 2.40015E-5 41664 0 2.26692E-4
7-31126120-A-G p.Arg264Arg synonymous ADCYAP1R1 1 83308 1.20036E-5 41654 0 NA
7-31126580-G-C p.Val283Leu missense ADCYAP1R1 61 83346 7.31889E-4 41673 0 0.00151057
7-31126582-G-A p.Val283Val synonymous ADCYAP1R1 2 83340 2.39981E-5 41670 0 1.64728E-5
7-31126590-C-T p.Thr286Met missense ADCYAP1R1 3 83336 3.59988E-5 41668 0 1.07073E-4
7-31126591-G-A p.Thr286Thr synonymous ADCYAP1R1 3 83334 3.59997E-5 41667 0 NA
7-31126598-C-T p.Leu289Phe missense ADCYAP1R1 1 83324 1.20013E-5 41662 0 NA
7-31126602-A-G p.Tyr290Cys missense ADCYAP1R1 1 83322 1.20016E-5 41661 0 NA
7-31126606-T-C p.Phe291Phe synonymous ADCYAP1R1 2 83320 2.40038E-5 41660 0 3.18532E-5
7-31126615-A-G p.Thr294Thr splice_region+synonymous ADCYAP1R1 1 83296 1.20054E-5 41648 0 3.97709E-6
7-31126617-G-A p.Gly295Asp missense+splice_region ADCYAP1R1 2 83298 2.40102E-5 41649 0 NA
7-31127251-A-T p.Met299Leu missense ADCYAP1R1 2 83328 2.40015E-5 41664 0 3.9795E-6
7-31127267-C-T p.Ala304Val missense ADCYAP1R1 2 83354 2.3994E-5 41677 0 2.47113E-5
7-31127274-G-A p.Trp306* stop_gained ADCYAP1R1 1 83362 1.19959E-5 41681 0 3.98023E-6
7-31127281-A-G p.Ile309Val missense ADCYAP1R1 2 83358 2.39929E-5 41679 0 NA
7-31127287-GG-TA p.Gly311Tyr missense ADCYAP1R1 1 83360 1.19962E-5 41680 0 NA
7-31127288-G-T p.Gly311Val missense ADCYAP1R1 1 83352 1.19973E-5 41676 0 8.23723E-6
7-31127295-G-A p.Val313Val synonymous ADCYAP1R1 8 83352 9.59785E-5 41676 0 6.36862E-5
7-31127298-T-G p.Val314Val synonymous ADCYAP1R1 2 83332 2.40004E-5 41666 0 8.23737E-6
7-31127307-C-T p.Ile317Ile synonymous ADCYAP1R1 2 83306 2.40079E-5 41653 0 3.18552E-5
7-31132248-TGC-T c.955-9_955-8delGC splice_region ADCYAP1R1 1 81332 1.22953E-5 40666 0 2.94053E-5
7-31132249-GCTC-TTTT c.955-9_955-6delGCTCinsTTTT splice_region ADCYAP1R1 1 80172 1.24732E-5 40086 0 NA
7-31132250-C-T c.955-8C>T splice_region ADCYAP1R1 1 80340 1.24471E-5 40170 0 0.005
7-31132250-C-A c.955-8C>A splice_region ADCYAP1R1 1 80344 1.24465E-5 40172 0 NA
7-31132251-T-TTTCC c.955-7_955-6insTTCC splice_region ADCYAP1R1 1 81066 1.23356E-5 40533 0 NA
7-31132252-C-T c.955-6C>T splice_region ADCYAP1R1 1 81254 1.23071E-5 40627 0 0.005
7-31132253-C-T c.955-5C>T splice_region ADCYAP1R1 1 81412 1.22832E-5 40706 0 0.003125
7-31132255-T-C c.955-3T>C splice_region ADCYAP1R1 1 81700 1.22399E-5 40850 0 6.25E-4
7-31132269-GC-G p.Leu323fs frameshift ADCYAP1R1 1 82622 1.21033E-5 41311 0 4.06138E-6
7-31132287-C-T p.Ile328Ile synonymous ADCYAP1R1 1 82870 1.20671E-5 41435 0 NA
7-31132288-G-T p.Val329Phe missense ADCYAP1R1 2 82788 2.41581E-5 41394 0 1.20155E-5
7-31132288-G-A p.Val329Ile missense ADCYAP1R1 5 82786 6.03967E-5 41393 0 6.4587E-5
7-31132296-T-A p.Leu331Leu synonymous ADCYAP1R1 1 82996 1.20488E-5 41498 0 NA
7-31132299-G-A p.Val332Val synonymous ADCYAP1R1 5 83014 6.02308E-5 41507 0 3.20472E-5
7-31132306-C-A p.Leu335Ile missense ADCYAP1R1 1 83014 1.20462E-5 41507 0 3.98839E-6
7-31132310-A-G p.Gln336Arg missense ADCYAP1R1 1 83032 1.20435E-5 41516 0 2.47239E-5
7-31132311-G-A p.Gln336Gln synonymous ADCYAP1R1 3 83040 3.61272E-5 41520 0 5.03525E-4
7-31132321-A-G p.Met340Val missense ADCYAP1R1 24 83044 2.89003E-4 41522 0 2.87485E-4
7-31132329-C-T p.Gly342Gly synonymous ADCYAP1R1 1 82972 1.20523E-5 41486 0 NA
7-31132333-G-A p.Glu344Lys missense ADCYAP1R1 1 82968 1.20528E-5 41484 0 7.98333E-6
7-31135281-AACAAAT-A p.Thr350_Asn351del conservative_inframe_deletion ADCYAP1R1 1 53614 1.86518E-5 26807 0 NA
7-31135295-C-T p.Pro354Leu missense ADCYAP1R1 3 53632 5.59368E-5 26816 0 1.19775E-4
7-31135296-G-A p.Pro354Pro synonymous ADCYAP1R1 1 53632 1.86456E-5 26816 0 5.97086E-5
7-31135297-C-T p.Arg355* stop_gained ADCYAP1R1 2 53640 3.72856E-5 26820 0 3.31332E-5
7-31135300-G-A p.Val356Ile missense ADCYAP1R1 1 53652 1.86386E-5 26826 0 1.32421E-5
7-31135301-T-TC p.Lys358fs frameshift ADCYAP1R1 1 53652 1.86386E-5 26826 0 3.18979E-5
7-31135315-C-T p.Arg361* stop_gained ADCYAP1R1 1 53672 1.86317E-5 26836 0 1.32335E-5
7-31135316-G-A p.Arg361Gln missense ADCYAP1R1 3 53672 5.58951E-5 26836 0 6.37024E-5
7-31135323-C-T p.Asp363Asp synonymous ADCYAP1R1 13 53670 2.42221E-4 26835 0 6.37105E-4
7-31135330-C-G p.Pro366Ala missense ADCYAP1R1 25 53670 4.6581E-4 26835 1 0.00162431
7-31135333-G-A p.Val367Met missense ADCYAP1R1 1 53672 1.86317E-5 26836 0 1.98279E-5
7-31135342-G-C p.Asp370His missense ADCYAP1R1 1 53670 1.86324E-5 26835 0 6.37064E-5
7-31135357-C-T p.Pro375Ser missense ADCYAP1R1 1 53664 1.86345E-5 26832 0 NA
7-31135358-C-T p.Pro375Leu missense ADCYAP1R1 1 53664 1.86345E-5 26832 0 NA
7-31135365-G-A c.1130+1G>A splice_donor ADCYAP1R1 1 53660 1.86359E-5 26830 0 6.37105E-5
7-31135369-G-T c.1130+5G>T splice_region ADCYAP1R1 3 53656 5.59117E-5 26828 1 0.00111542
7-31139747-C-T p.Cys351Cys synonymous ADCYAP1R1 1 76538 1.30654E-5 38269 0 1.34145E-5
7-31139748-G-A p.Val352Met missense ADCYAP1R1 4 76594 5.22234E-5 38297 0 0.00111857
7-31139749-T-G p.Val352Gly missense ADCYAP1R1 1 76662 1.30443E-5 38331 0 6.70574E-6
7-31139750-G-A p.Val352Val synonymous ADCYAP1R1 1 76724 1.30337E-5 38362 0 6.06943E-5
7-31139756-A-G p.Lys354Lys synonymous ADCYAP1R1 2 76908 2.60051E-5 38454 0 6.70322E-6
7-31139761-A-G p.Tyr356Cys missense ADCYAP1R1 1 77022 1.29833E-5 38511 0 NA
7-31139775-C-T p.Arg361Trp missense ADCYAP1R1 1 77226 1.2949E-5 38613 0 2.68118E-5
7-31139776-G-A p.Arg361Gln missense ADCYAP1R1 1 77226 1.2949E-5 38613 0 1.2063E-4
7-31139777-G-T p.Arg361Arg synonymous ADCYAP1R1 1 77268 1.2942E-5 38634 0 3.18593E-5
7-31139785-A-G p.Gln364Arg missense ADCYAP1R1 1 77318 1.29336E-5 38659 0 NA
7-31139790-T-C p.Ser366Pro missense ADCYAP1R1 3 77340 3.87898E-5 38670 0 NA
7-31139810-G-A p.Leu372Leu synonymous ADCYAP1R1 1 77380 1.29232E-5 38690 0 NA
7-31142845-C-T c.1047-6C>T splice_region ADCYAP1R1 8 83270 9.6073E-5 41635 0 3.18512E-5
7-31142846-G-C c.1047-5G>C splice_region ADCYAP1R1 1 83274 1.20085E-5 41637 0 NA
7-31142848-C-T c.1047-3C>T splice_region ADCYAP1R1 1 83278 1.2008E-5 41639 0 1.65328E-5
7-31142858-GC-G p.Arg353fs frameshift ADCYAP1R1 2 83288 2.40131E-5 41644 0 NA
7-31142861-C-T p.Arg353Trp missense ADCYAP1R1 1 83302 1.20045E-5 41651 0 8.24593E-6
7-31142862-G-A p.Arg353Gln missense ADCYAP1R1 2 83300 2.40096E-5 41650 0 8.2447E-6
7-31142867-A-C p.Thr355Pro missense ADCYAP1R1 3 83308 3.60109E-5 41654 0 NA
7-31142880-T-C p.Ile359Thr missense ADCYAP1R1 2 83346 2.39964E-5 41673 0 NA
7-31142882-C-T p.Pro360Ser missense ADCYAP1R1 1 83350 1.19976E-5 41675 0 NA
7-31142884-A-G p.Pro360Pro synonymous ADCYAP1R1 1 83350 1.19976E-5 41675 0 NA
7-31142890-C-T p.Phe362Phe synonymous ADCYAP1R1 1 83348 1.19979E-5 41674 0 7.9557E-6
7-31142891-G-A p.Gly363Arg missense ADCYAP1R1 1 83338 1.19993E-5 41669 0 3.97779E-6
7-31142903-A-G p.Thr367Ala missense ADCYAP1R1 1 83354 1.1997E-5 41677 0 3.1814E-5
7-31142928-A-G p.Asn375Ser missense ADCYAP1R1 1 83346 1.19982E-5 41673 0 NA
7-31142951-G-A p.Val383Met missense ADCYAP1R1 3 83330 3.60014E-5 41665 0 3.29533E-5
7-31142960-C-T p.Leu386Leu synonymous ADCYAP1R1 6 83346 7.19891E-5 41673 0 1.9885E-5
7-31142983-A-G c.1176+3A>G splice_region ADCYAP1R1 1 83318 1.20022E-5 41659 0 7.95564E-6
7-31142984-G-A c.1176+4G>A splice_region ADCYAP1R1 1 83316 1.20025E-5 41658 0 8.24987E-6
7-31142987-G-C c.1176+7G>C splice_region ADCYAP1R1 2 83304 2.40085E-5 41652 0 5.77624E-5
7-31146112-A-G p.Val407Val splice_region+synonymous ADCYAP1R1 3 82372 3.64201E-5 41186 0 2.65355E-5
7-31146112-A-T p.Val407Val splice_region+synonymous ADCYAP1R1 2 82372 2.42801E-5 41186 0 4.42259E-5
7-31146117-C-T p.Ala409Val missense ADCYAP1R1 4 82514 4.84766E-5 41257 0 2.20183E-4
7-31146118-G-A p.Ala409Ala synonymous ADCYAP1R1 50 82592 6.05386E-4 41296 1 0.00100705
7-31146123-T-C p.Ile411Thr missense ADCYAP1R1 1 82668 1.20966E-5 41334 0 NA
7-31146128-C-A p.Arg413Arg synonymous ADCYAP1R1 13 82732 1.57134E-4 41366 0 1.91205E-4
7-31146128-C-G p.Arg413Gly missense ADCYAP1R1 1 82732 1.20872E-5 41366 0 8.13206E-6
7-31146129-G-A p.Arg413Gln missense ADCYAP1R1 1 82782 1.20799E-5 41391 0 NA
7-31146138-G-A p.Arg416Gln missense ADCYAP1R1 1 82900 1.20627E-5 41450 0 0.00100705
7-31146143-T-C p.Trp418Arg missense ADCYAP1R1 1 83016 1.20459E-5 41508 0 NA
7-31146155-C-T p.Arg422Cys missense ADCYAP1R1 1 83152 1.20262E-5 41576 0 2.5071E-5
7-31146156-G-A p.Arg422His missense ADCYAP1R1 4 83190 4.80827E-5 41595 0 4.1732E-5
7-31146164-G-A p.Ala425Thr missense ADCYAP1R1 1 83234 1.20143E-5 41617 0 5.03525E-4
7-31146183-G-A p.Arg431Gln missense ADCYAP1R1 1 83286 1.20068E-5 41643 0 4.95827E-5
7-31146185-C-T p.His432Tyr missense ADCYAP1R1 8 83286 9.60546E-5 41643 0 6.25E-4
7-31146189-C-T p.Pro433Leu missense ADCYAP1R1 2 83298 2.40102E-5 41649 0 3.18573E-5
7-31146190-G-A p.Pro433Pro synonymous ADCYAP1R1 4 83298 4.80204E-5 41649 0 1.27413E-4
7-31146200-A-G p.Ser437Gly missense ADCYAP1R1 1 83306 1.20039E-5 41653 0 3.98743E-6
7-31146206-G-A p.Gly439Arg missense ADCYAP1R1 5 83296 6.00269E-5 41648 0 3.18613E-5
7-31146217-G-C p.Gly442Gly synonymous ADCYAP1R1 2 83250 2.4024E-5 41625 0 3.99202E-5
7-31146219-G-T p.Gly443Val missense ADCYAP1R1 9 83244 1.08116E-4 41622 0 NA
7-31146220-C-T p.Gly443Gly synonymous ADCYAP1R1 1 83238 1.20137E-5 41619 0 3.9917E-6
7-31146223-C-A p.Thr444Thr synonymous ADCYAP1R1 1709 83214 0.0205374 41607 26 0.04875
7-31146224-C-T p.Gln445* stop_gained ADCYAP1R1 1 83248 1.20123E-5 41624 0 6.37064E-5
7-31146253-C-G p.Ser454Ser synonymous ADCYAP1R1 3 83022 3.6135E-5 41511 0 8.6949E-6
7-31146256-A-G p.Gln455Gln synonymous ADCYAP1R1 1 82988 1.20499E-5 41494 0 NA
7-31146260-C-T p.Arg457Cys missense ADCYAP1R1 2 82878 2.41319E-5 41439 0 6.25E-4
7-31146289-G-A p.Leu466Leu synonymous ADCYAP1R1 1 82330 1.21462E-5 41165 0 NA
7-31146308-CCCT-C c.*21_*23delCTC splice_region ADCYAP1R1 3 81700 3.67197E-5 40850 0 5.88334E-4