Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
22-40742521-C-G c.-42C>G 5_prime_UTR_premature_start_codon_gain ADSL 1 78872 1.26788E-5 39436 0 NA
22-40742528-G-T c.-35G>T 5_prime_UTR_premature_start_codon_gain ADSL 1 79078 1.26457E-5 39539 0 3.45316E-5
22-40742551-C-T c.-12C>T 5_prime_UTR_premature_start_codon_gain ADSL 2 79576 2.51332E-5 39788 0 1.54736E-5
22-40742563-A-G p.Met1? start_lost ADSL 1 80142 1.24779E-5 40071 0 3.18939E-5
22-40742567-C-T p.Ala2Val missense ADSL 3 80190 3.74111E-5 40095 0 1.81247E-4
22-40742569-G-A p.Ala3Thr missense ADSL 2 80278 2.49134E-5 40139 0 3.18674E-5
22-40742577-C-T p.Gly5Gly synonymous ADSL 2 80200 2.49377E-5 40100 0 5.74284E-5
22-40742577-C-A p.Gly5Gly synonymous ADSL 1 80200 1.24688E-5 40100 0 1.43571E-5
22-40742578-G-C p.Asp6His missense ADSL 7 80380 8.70863E-5 40190 0 1.59307E-4
22-40742580-T-A p.Asp6Glu missense ADSL 1 80492 1.24236E-5 40246 0 3.18695E-5
22-40742585-G-T p.Gly8Val missense ADSL 1 80698 1.23919E-5 40349 0 4.28684E-6
22-40742585-G-C p.Gly8Ala missense ADSL 1 80698 1.23919E-5 40349 0 1.38897E-5
22-40742589-G-T p.Ser9Ser synonymous ADSL 14 80680 1.73525E-4 40340 0 4.14224E-4
22-40742590-C-G p.Pro10Ala missense ADSL 1 80740 1.23854E-5 40370 0 4.28478E-6
22-40742591-C-T p.Pro10Leu missense ADSL 1 80810 1.23747E-5 40405 0 NA
22-40742593-G-C p.Asp11His missense ADSL 3 80822 3.71186E-5 40411 0 NA
22-40742594-A-T p.Asp11Val missense ADSL 3 80802 3.71278E-5 40401 0 6.37389E-5
22-40742598-C-A p.Ser12Arg missense ADSL 1 81048 1.23384E-5 40524 0 1.31989E-5
22-40742602-C-T p.Arg14Cys missense ADSL 4 81170 4.92793E-5 40585 0 3.18593E-5
22-40742602-C-G p.Arg14Gly missense ADSL 1 81170 1.23198E-5 40585 0 NA
22-40742616-C-T p.Ala18Ala synonymous ADSL 3 81394 3.68578E-5 40697 0 3.18573E-5
22-40742635-G-T p.Glu25* stop_gained ADSL 1 81594 1.22558E-5 40797 0 1.08087E-5
22-40742656-G-T p.Asp32Tyr missense ADSL 1 81592 1.22561E-5 40796 0 NA
22-40742663-A-G p.Tyr34Cys missense ADSL 1 81542 1.22636E-5 40771 0 9.62279E-6
22-40742669-T-A p.Phe36Tyr missense ADSL 2 81424 2.45628E-5 40712 0 5.05561E-4
22-40742672-G-A p.Arg37Gln missense ADSL 1 81338 1.22944E-5 40669 0 NA
22-40742676-A-G p.Thr38Thr synonymous ADSL 1 81214 1.23131E-5 40607 0 4.8229E-5
22-40742686-C-T p.Leu42Leu synonymous ADSL 826 80608 0.0102471 40304 4 0.0100971
22-40742702-C-G p.Ala47Gly missense ADSL 4 78396 5.1023E-5 39198 0 0.169363
22-40742705-A-G p.Glu48Gly missense ADSL 6 78510 7.64234E-5 39255 0 0.0961538
22-40742715-G-A p.Gln51Gln splice_region+synonymous ADSL 1 79296 1.2611E-5 39648 0 6.37959E-5
22-40742722-G-A c.153+7G>A splice_region ADSL 2 79162 2.52646E-5 39581 0 3.18939E-5
22-40745839-T-C p.Leu53Leu synonymous ADSL 1 83220 1.20163E-5 41610 0 NA
22-40745848-C-G p.Pro56Ala missense ADSL 2 83266 2.40194E-5 41633 0 NA
22-40745851-A-G p.Ile57Val missense ADSL 1 83282 1.20074E-5 41641 0 1.66063E-5
22-40745871-G-A p.Gln63Gln synonymous ADSL 2 83340 2.39981E-5 41670 0 8.26679E-6
22-40745883-A-C p.Ser67Ser synonymous ADSL 2 83354 2.3994E-5 41677 0 3.97665E-6
22-40745887-C-G p.Leu69Val missense ADSL 1 83360 1.19962E-5 41680 0 8.25491E-6
22-40745898-C-T p.Ile72Ile synonymous ADSL 142 83366 0.00170333 41683 5 0.0051059
22-40745899-G-A p.Asp73Asn missense ADSL 1 83364 1.19956E-5 41682 0 8.24974E-6
22-40745906-A-G p.Lys75Arg missense ADSL 1 83372 1.19944E-5 41686 0 6.37146E-5
22-40745908-A-G p.Met76Val missense ADSL 1 83372 1.19944E-5 41686 0 NA
22-40745929-C-T p.Arg83Cys missense ADSL 13 83378 1.55916E-4 41689 0 1.91131E-4
22-40745930-G-A p.Arg83His missense ADSL 1 83374 1.19941E-5 41687 0 2.47264E-5
22-40745944-G-T p.Val88Leu missense ADSL 1 83370 1.19947E-5 41685 0 6.37064E-5
22-40745952-T-C p.Ala90Ala synonymous ADSL 12 83368 1.4394E-4 41684 0 3.82287E-4
22-40745953-C-G p.His91Asp missense ADSL 1 83370 1.19947E-5 41685 0 NA
22-40745956-G-A p.Val92Met missense ADSL 1 83354 1.1997E-5 41677 0 1.64802E-5
22-40746004-C-T p.Leu108Phe missense ADSL 1 83236 1.2014E-5 41618 0 NA
22-40746012-T-C p.Ala110Ala synonymous ADSL 1 83206 1.20184E-5 41603 0 NA
22-40746022-T-C p.Tyr114His missense ADSL 13 83172 1.56303E-4 41586 0 4.11991E-5
22-40746045-C-T c.357+6C>T splice_region ADSL 31 83002 3.73485E-4 41501 0 3.26685E-4
22-40746046-G-A c.357+7G>A splice_region ADSL 42 82972 5.06195E-4 41486 0 3.30751E-4
22-40749072-C-G c.358-5C>G splice_region ADSL 1 83208 1.20181E-5 41604 0 NA
22-40749072-C-T c.358-5C>T splice_region ADSL 4 83206 4.80735E-5 41603 0 7.15939E-5
22-40749073-G-A c.358-4G>A splice_region ADSL 596 83208 0.00716277 41604 16 0.0175942
22-40749073-G-C c.358-4G>C splice_region ADSL 1 83228 1.20152E-5 41614 0 NA
22-40749082-G-A p.Leu121Leu synonymous ADSL 51 83304 6.12215E-4 41652 0 0.0020141
22-40749121-G-GCTT c.402_402+1insCTT splice_donor ADSL 1 83330 1.20005E-5 41665 0 NA
22-40749357-C-A p.Gly126Gly synonymous ADSL 8 36530 2.18998E-4 18265 0 3.50497E-4
22-40749357-C-G p.Gly126Gly synonymous ADSL 1 36530 2.73748E-5 18265 0 7.65826E-6
22-40749358-G-A p.Val127Met missense ADSL 4 35886 1.11464E-4 17943 0 6.25E-4
22-40749361-A-G p.Ile128Val missense ADSL 1 34836 2.87059E-5 17418 0 NA
22-40749383-G-A p.Arg135His missense ADSL 1 25638 3.90046E-5 12819 0 3.1902E-5
22-40749392-G-A p.Gly138Asp missense ADSL 22 23002 9.56439E-4 11501 0 0.00121158
22-40749402-C-T p.Ser141Ser synonymous ADSL 311 20340 0.0152901 10170 5 0.0279656
22-40750247-T-C c.403-5T>C splice_region ADSL 1 83326 1.20011E-5 41663 0 NA
22-40750248-G-A c.403-4G>A splice_region ADSL 20 83328 2.40015E-4 41664 0 6.6879E-4
22-40750255-G-A p.Ala136Thr missense ADSL 1 83354 1.1997E-5 41677 0 6.37146E-5
22-40750257-C-T p.Ala136Ala synonymous ADSL 5 83358 5.99822E-5 41679 0 6.36983E-5
22-40750266-C-T p.Ile139Ile synonymous ADSL 4 83370 4.79789E-5 41685 0 7.95254E-6
22-40750270-C-T p.Arg141Trp missense ADSL 3 83362 3.59876E-5 41681 0 1.64728E-5
22-40750271-G-A p.Arg141Gln missense ADSL 1 83372 1.19944E-5 41686 0 3.97627E-6
22-40750276-G-T p.Ala143Ser missense ADSL 1 83342 1.19988E-5 41671 0 0.0040282
22-40750278-C-T p.Ala143Ala synonymous ADSL 1 83350 1.19976E-5 41675 0 3.18471E-5
22-40750279-G-A p.Asp144Asn missense ADSL 1 83336 1.19996E-5 41668 0 3.18532E-5
22-40750288-A-G p.Lys147Glu missense ADSL 1 83356 1.19967E-5 41678 0 2.47093E-5
22-40750289-A-T p.Lys147Met missense ADSL 529 83354 0.00634643 41677 15 0.0129945
22-40750294-C-T p.Arg149* stop_gained ADSL 1 83354 1.1997E-5 41677 0 NA
22-40750295-G-C p.Arg149Pro missense ADSL 1 83388 1.19921E-5 41694 0 NA
22-40750306-C-T p.Pro153Ser missense ADSL 1 83394 1.19913E-5 41697 0 NA
22-40750331-A-G p.Gln161Arg missense+splice_region ADSL 1 83366 1.19953E-5 41683 0 1.64728E-5
22-40750332-G-GCCTGCACAGCTGACCACAGTTGGGAAACGTTGCTGTCT c.482+1_482+2insCCTGCACAGCTGACCACAGTTGGGAAACGTTGCTGTCT splice_donor ADSL 1 83368 1.1995E-5 41684 0 NA
22-40754884-A-G p.Thr167Ala missense ADSL 1 83360 1.19962E-5 41680 0 3.97643E-6
22-40754897-G-A p.Arg171His missense ADSL 1 83356 1.19967E-5 41678 0 5.03525E-4
22-40754926-A-G p.Met181Val missense ADSL 1 83338 1.19993E-5 41669 0 6.25E-4
22-40754952-C-T p.Val189Val synonymous ADSL 2 83316 2.4005E-5 41658 0 3.18532E-5
22-40754964-G-C p.Leu193Leu synonymous ADSL 7 83316 8.40175E-5 41658 0 3.18471E-5
22-40754966-G-A p.Arg194His missense ADSL 2 83316 2.4005E-5 41658 0 8.23981E-6
22-40754972-G-A p.Arg196Gln missense ADSL 6 83316 7.2015E-5 41658 0 8.24008E-5
22-40754993-G-A p.Gly203Asp missense ADSL 1 83294 1.20057E-5 41647 0 NA
22-40755001-G-T p.Ala206Ser missense ADSL 78 83304 9.3633E-4 41652 1 0.00121011
22-40755017-T-A p.Leu211His missense ADSL 2 83290 2.40125E-5 41645 0 NA
22-40755018-C-G p.Leu211Leu synonymous ADSL 1 83296 1.20054E-5 41648 0 3.97785E-6
22-40755034-C-G p.His217Asp missense ADSL 8 83262 9.60822E-5 41631 0 9.19645E-4
22-40755273-CT-C p.Asp223fs frameshift ADSL 2 83366 2.39906E-5 41683 0 NA
22-40755297-G-T p.Ala230Ser missense ADSL 1 83378 1.19936E-5 41689 0 NA
22-40755303-T-G p.Phe232Val missense ADSL 1 83374 1.19941E-5 41687 0 NA
22-40755310-G-GAGCTTTCATCATCACAGGGCAGACATATACACGAAAA c.701_701+1insAGCTTTCATCATCACAGGGCAGACATATACACGAAAA splice_donor ADSL 2 83370 2.39894E-5 41685 0 NA
22-40756399-T-C c.702-7T>C splice_region ADSL 13 83222 1.56209E-4 41611 0 6.25782E-4
22-40756399-T-A c.702-7T>A splice_region ADSL 1 83222 1.20161E-5 41611 0 NA
22-40756404-A-G c.702-2A>G splice_acceptor ADSL 1 83256 1.20111E-5 41628 0 3.97668E-6
22-40756424-G-A p.Gly240Gly synonymous ADSL 1 83296 1.20054E-5 41648 0 1.64756E-5
22-40756438-G-A p.Arg245Gln missense ADSL 5 83308 6.00182E-5 41654 0 3.29533E-5
22-40756439-A-T p.Arg245Arg synonymous ADSL 10 83316 1.20025E-4 41658 0 1.59276E-4
22-40756440-A-G p.Lys246Glu missense ADSL 2 83314 2.40056E-5 41657 0 6.37064E-5
22-40756467-C-T p.Leu255Leu synonymous ADSL 1 83296 1.20054E-5 41648 0 6.37024E-5
22-40756473-A-G p.Ser257Gly missense ADSL 2 83284 2.40142E-5 41642 0 0.00125
22-40756484-A-C p.Ala260Ala synonymous ADSL 1 83222 1.20161E-5 41611 0 NA
22-40756491-C-T p.His263Tyr missense ADSL 1 83160 1.2025E-5 41580 0 NA
22-40756501-G-T c.792+5G>T splice_region ADSL 1 83054 1.20404E-5 41527 0 6.36862E-5
22-40756502-T-C c.792+6T>C splice_region ADSL 2 83052 2.40813E-5 41526 0 3.18796E-5
22-40756504-G-A c.792+8G>A splice_region ADSL 2 83014 2.40923E-5 41507 0 8.24511E-6
22-40757093-C-T n.208C>T splice_region ADSL 1 58746 1.70224E-5 29373 0 NA
22-40757272-C-A c.793-5C>A splice_region ADSL 2 83292 2.40119E-5 41646 0 1.59067E-5
22-40757272-C-G c.793-5C>G splice_region ADSL 1 83292 1.2006E-5 41646 0 NA
22-40757274-C-T c.793-3C>T splice_region ADSL 2 83314 2.40056E-5 41657 0 NA
22-40757290-T-C p.Ile269Thr missense ADSL 1 83306 1.20039E-5 41653 0 3.18593E-5
22-40757292-C-T p.Arg270Cys missense ADSL 1 83304 1.20042E-5 41652 0 6.36983E-5
22-40757293-G-A p.Arg270His missense ADSL 2 83306 2.40079E-5 41653 0 2.47109E-5
22-40757307-C-G p.Leu275Val missense ADSL 1 83308 1.20036E-5 41654 0 NA
22-40757326-C-G p.Pro281Arg missense ADSL 2 83306 2.40079E-5 41653 0 8.23723E-6
22-40757340-C-G p.Gln286Glu missense ADSL 2 83296 2.40108E-5 41648 0 6.36943E-5
22-40757492-G-C p.Gly288Ala missense+splice_region ADSL 3 83190 3.6062E-5 41595 0 1.64747E-5
22-40757502-G-A p.Ala291Ala synonymous ADSL 1 83234 1.20143E-5 41617 0 0.00125
22-40757503-A-T p.Met292Leu missense ADSL 2 83244 2.40258E-5 41622 0 NA
22-40757503-A-G p.Met292Val missense ADSL 1 83244 1.20129E-5 41622 0 1.64739E-5
22-40757509-T-C p.Tyr294His missense ADSL 15 83256 1.80167E-4 41628 0 0.00331147
22-40757514-G-A p.Lys295Lys synonymous ADSL 2 83274 2.40171E-5 41637 0 NA
22-40757515-C-T p.Arg296Trp missense ADSL 3 83280 3.60231E-5 41640 0 1.31794E-4
22-40757516-G-A p.Arg296Gln missense ADSL 1 83294 1.20057E-5 41647 0 6.25E-4
22-40757523-C-T p.Pro298Pro synonymous ADSL 1 83296 1.20054E-5 41648 0 1.64745E-5
22-40757524-A-G p.Met299Val missense ADSL 24 83300 2.88115E-4 41650 0 0.0020141
22-40757528-G-A p.Arg300His missense ADSL 1 83298 1.20051E-5 41649 0 3.97674E-6
22-40757536-C-T p.Arg303Cys missense ADSL 1 83314 1.20028E-5 41657 0 4.11868E-5
22-40757537-G-A p.Arg303His missense ADSL 1 83302 1.20045E-5 41651 0 3.18512E-5
22-40757555-G-A p.Arg309His missense ADSL 1 83322 1.20016E-5 41661 0 1.19308E-5
22-40757582-C-T p.Pro318Leu missense ADSL 3 83278 3.60239E-5 41639 0 2.47194E-5
22-40757583-GC-G p.Leu319fs frameshift ADSL 1 83268 1.20094E-5 41634 0 3.97769E-6
22-40757583-G-A p.Pro318Pro synonymous ADSL 2 83268 2.40188E-5 41634 0 1.64799E-5
22-40757591-C-T p.Thr321Ile missense ADSL 3 83254 3.60343E-5 41627 0 3.97766E-6
22-40757614-C-T p.Arg329Cys missense ADSL 1 83030 1.20438E-5 41515 0 3.29826E-5
22-40757616-C-T p.Arg329Arg synonymous ADSL 2 83002 2.40958E-5 41501 0 NA
22-40757619-A-G p.Thr330Thr synonymous ADSL 1 82984 1.20505E-5 41492 0 NA
22-40757623-G-C p.Asp332His missense ADSL 1 82924 1.20592E-5 41462 0 8.24933E-6
22-40758986-C-T p.Arg338Trp missense+splice_region ADSL 1 83314 1.20028E-5 41657 0 3.18512E-5
22-40758988-G-C p.Arg338Arg synonymous ADSL 1 83324 1.20013E-5 41662 0 3.97652E-6
22-40758990-T-A p.Ile339Asn missense ADSL 1 83328 1.20008E-5 41664 0 3.18451E-5
22-40759000-C-T p.Ala342Ala synonymous ADSL 3 83342 3.59963E-5 41671 0 3.97643E-6
22-40759014-C-A p.Thr347Asn missense ADSL 3 83350 3.59928E-5 41675 0 NA
22-40759027-A-G p.Ile351Met missense ADSL 2 83344 2.39969E-5 41672 0 3.18471E-5
22-40759034-A-G p.Thr354Ala missense ADSL 4 83330 4.80019E-5 41665 0 4.37404E-5
22-40759035-C-T p.Thr354Met missense ADSL 2 83332 2.40004E-5 41666 0 6.25E-4
22-40759036-G-A p.Thr354Thr synonymous ADSL 8 83330 9.60038E-5 41665 0 1.19294E-5
22-40759045-C-T p.Asn357Asn synonymous ADSL 1 83320 1.20019E-5 41660 0 7.95292E-6
22-40759055-G-A p.Gly361Arg missense ADSL 1 83306 1.20039E-5 41653 0 NA
22-40759063-C-T p.Val363Val synonymous ADSL 6 83266 7.20582E-5 41633 0 6.25E-4
22-40759064-G-A p.Val364Met missense ADSL 3 83256 3.60334E-5 41628 0 8.24008E-6
22-40759067-T-C p.Tyr365His missense ADSL 1 83246 1.20126E-5 41623 0 6.36902E-5
22-40760276-A-G c.1102-4A>G splice_region ADSL 2 83224 2.40315E-5 41612 0 6.37511E-5
22-40760283-A-C p.Ile369Leu missense ADSL 6 83266 7.20582E-5 41633 0 NA
22-40760289-C-T p.Arg371Trp missense ADSL 1 83280 1.20077E-5 41640 0 2.3876E-5
22-40760290-G-A p.Arg371Gln missense ADSL 2 83280 2.40154E-5 41640 0 5.96844E-5
22-40760292-C-A p.Arg372Ser missense ADSL 6 83284 7.20426E-5 41642 0 6.37227E-5
22-40760293-G-A p.Arg372His missense ADSL 10 83284 1.20071E-4 41642 0 1.00795E-4
22-40760295-A-C p.Ile373Leu missense ADSL 2 83290 2.40125E-5 41645 0 8.37998E-6
22-40760298-C-T p.Arg374Trp missense ADSL 1 83290 1.20062E-5 41645 0 6.25E-4
22-40760299-G-A p.Arg374Gln missense ADSL 1 83300 1.20048E-5 41650 0 1.27494E-4
22-40760318-G-A p.Met380Ile missense ADSL 2 83322 2.40033E-5 41661 0 3.97833E-6
22-40760343-A-G p.Met389Val missense ADSL 1 83294 1.20057E-5 41647 0 1.19353E-5
22-40760352-G-A p.Ala392Thr missense ADSL 1 83288 1.20065E-5 41644 0 3.98057E-6
22-40760365-G-A p.Arg396His missense ADSL 2 83250 2.4024E-5 41625 0 5.19229E-5
22-40760368-A-G p.Gln397Arg missense+splice_region ADSL 1 83244 1.20129E-5 41622 0 3.98587E-6
22-40760371-T-A c.1191+2T>A splice_donor ADSL 1 83236 1.2014E-5 41618 0 NA
22-40760374-G-C c.1191+5G>C splice_region ADSL 4 83218 4.80665E-5 41609 0 2.86716E-4
22-40760879-C-T c.1192-5C>T splice_region ADSL 1 83156 1.20256E-5 41578 0 6.36902E-5
22-40760886-T-C p.Asp398Asp splice_region+synonymous ADSL 2 83198 2.4039E-5 41599 0 3.18431E-5
22-40760899-A-C p.Ile403Leu missense ADSL 1 83306 1.20039E-5 41653 0 2.78377E-5
22-40760927-C-T p.Ser412Phe missense ADSL 3 83370 3.59842E-5 41685 0 3.1837E-5
22-40760943-A-G p.Glu417Glu synonymous ADSL 2 83402 2.39802E-5 41701 0 NA
22-40760945-G-A p.Gly418Glu missense ADSL 2 83406 2.39791E-5 41703 0 8.23642E-6
22-40760952-CAAT-C p.Asn421del conservative_inframe_deletion ADSL 1 83414 1.19884E-5 41707 0 NA
22-40760954-A-G p.Asn421Ser missense ADSL 5 83416 5.99405E-5 41708 0 5.76549E-5
22-40760956-G-T p.Asp422Tyr missense ADSL 3 83418 3.59635E-5 41709 0 1.98812E-5
22-40760962-A-G p.Ile424Val missense ADSL 3 83422 3.59617E-5 41711 0 8.23642E-6
22-40760963-T-C p.Ile424Thr missense ADSL 1 83422 1.19872E-5 41711 0 NA
22-40760965-G-A p.Glu425Lys missense ADSL 1 83426 1.19867E-5 41713 0 NA
22-40760968-C-T p.Arg426Cys missense ADSL 1 83430 1.19861E-5 41715 0 NA
22-40760969-G-A p.Arg426His missense ADSL 22 83432 2.63688E-4 41716 0 2.55329E-4
22-40760969-G-T p.Arg426Leu missense ADSL 2 83432 2.39716E-5 41716 0 NA
22-40760971-A-G p.Ile427Val missense ADSL 2 83434 2.3971E-5 41717 0 8.23642E-6
22-40760983-G-A p.Ala431Thr missense ADSL 15 83422 1.79809E-4 41711 0 1.47121E-4
22-40760993-GTCCCATTCAC-G p.Ile436fs frameshift ADSL 1 83424 1.1987E-5 41712 0 NA
22-40760997-C-T p.Pro435Pro synonymous ADSL 1 83420 1.19875E-5 41710 0 3.18431E-5
22-40761015-T-A p.Asp441Glu missense ADSL 2 83398 2.39814E-5 41699 0 NA
22-40761029-C-A p.Pro446His missense ADSL 5 83384 5.99635E-5 41692 0 0.0025
22-40761031-T-C p.Ser447Pro missense ADSL 3 83380 3.59799E-5 41690 0 1.64734E-5
22-40761034-T-C p.Ser448Pro missense ADSL 1 83368 1.1995E-5 41684 0 1.98821E-5
22-40761041-C-G p.Thr450Ser missense ADSL 3 83336 3.59988E-5 41668 0 4.11821E-5
22-40761044-G-T p.Gly451Val missense ADSL 1 83306 1.20039E-5 41653 0 3.97652E-6
22-40761046-C-G p.Arg452Gly missense ADSL 3 83310 3.60101E-5 41655 0 1.59058E-5
22-40761047-G-A p.Arg452His missense ADSL 2 83296 2.40108E-5 41648 0 3.29457E-5
22-40761066-CT-C c.1368+7delT splice_region ADSL 4 83112 4.81278E-5 41556 0 3.18451E-5
22-40762434-T-A c.1369-6T>A splice_region ADSL 1 83220 1.20163E-5 41610 0 NA
22-40762437-C-A c.1369-3C>A splice_region ADSL 1 83246 1.20126E-5 41623 0 3.97867E-6
22-40762441-T-C p.Val457Ala missense+splice_region ADSL 1 83272 1.20088E-5 41636 0 3.97817E-6
22-40762455-G-A p.Glu462Lys missense ADSL 1 83286 1.20068E-5 41643 0 3.97747E-6
22-40762487-T-C p.Ter22Argext*? stop_lost ADSL 3 83320 3.60058E-5 41660 0 1.19316E-5
22-40762495-T-A p.Val475Glu missense ADSL 1 83312 1.20031E-5 41656 0 NA
22-40762503-G-A n.1174+1G>A splice_donor ADSL 1 83308 1.20036E-5 41654 0 6.76154E-5
22-40762515-T-C p.Leu482Leu synonymous ADSL 1 83278 1.2008E-5 41639 0 7.95507E-6
22-40762983-TA-T c.*474delA splice_region ADSL 4 180 0.0222222 90 0 0.0134582
22-40763468-T-G n.1175-5T>G splice_region ADSL 2 43070 4.6436E-5 21535 0 1.59276E-4