Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-43622887-C-T c.-559C>T 5_prime_UTR_premature_start_codon_gain ADAL 107 63246 0.00169181 31623 0 0.00156091
15-43622890-T-C c.-556T>C 5_prime_UTR_premature_start_codon_gain ADAL 1 62814 1.592E-5 31407 0 NA
15-43622916-C-T c.-530C>T 5_prime_UTR_premature_start_codon_gain ADAL 8892 53212 0.167105 26606 219 0.275136
15-43622917-G-A c.-529G>A 5_prime_UTR_premature_start_codon_gain ADAL 4 57800 6.92042E-5 28900 0 NA
15-43622928-T-G c.-417T>G 5_prime_UTR_premature_start_codon_gain ADAL 1 55474 1.80265E-5 27737 0 3.18573E-5
15-43622946-C-T c.-399C>T 5_prime_UTR_premature_start_codon_gain ADAL 5 50390 9.9226E-5 25195 0 3.18593E-5
15-43622988-C-T c.-357C>T 5_prime_UTR_premature_start_codon_gain ADAL 1 34298 2.91562E-5 17149 0 NA
15-43623058-G-A c.-288+1G>A splice_donor ADAL 24 9352 0.0025663 4676 0 0.00159317
15-43625618-GA-G c.-165delA splice_region ADAL 1 4 0.25 2 0 0.205359
15-43627157-A-T c.-149A>T 5_prime_UTR_premature_start_codon_gain ADAL 1 59794 1.67241E-5 29897 0 NA
15-43627240-C-A c.-66C>A 5_prime_UTR_premature_start_codon_gain ADAL 1 81138 1.23247E-5 40569 0 3.18634E-5
15-43627254-A-G c.-52A>G 5_prime_UTR_premature_start_codon_gain ADAL 1 81984 1.21975E-5 40992 0 NA
15-43627276-G-A c.-30G>A 5_prime_UTR_premature_start_codon_gain ADAL 1 82658 1.2098E-5 41329 0 9.5584E-5
15-43627291-T-G c.-15T>G 5_prime_UTR_premature_start_codon_gain ADAL 1 82742 1.20858E-5 41371 0 7.98448E-6
15-43627327-C-T p.Gln8* stop_gained ADAL 1 82186 1.21675E-5 41093 0 8.26023E-6
15-43627331-C-A p.Pro9His missense ADAL 3 82078 3.65506E-5 41039 0 6.37024E-5
15-43627341-A-G p.Thr12Thr synonymous ADAL 1 81840 1.2219E-5 40920 0 1.20023E-5
15-43627342-G-A p.Asp13Asn missense ADAL 2 81814 2.44457E-5 40907 0 4.00029E-6
15-43627351-T-C p.Ser16Pro missense ADAL 6 81630 7.35024E-5 40815 0 4.4049E-5
15-43627362-A-C p.Pro19Pro synonymous ADAL 2 81352 2.45845E-5 40676 0 8.26651E-6
15-43627917-A-C p.Gly29Gly synonymous ADAL 1 83308 1.20036E-5 41654 0 4.00157E-6
15-43627928-C-T p.Ser33Phe missense ADAL 1 83318 1.20022E-5 41659 0 NA
15-43627948-A-G p.Ile40Val missense ADAL 1 83324 1.20013E-5 41662 0 6.25E-4
15-43627964-A-G p.Asp45Gly missense ADAL 2 83338 2.39987E-5 41669 0 NA
15-43627969-A-G p.Lys47Glu missense ADAL 1 83344 1.19985E-5 41672 0 3.1835E-5
15-43627978-G-T p.Asp50Tyr missense ADAL 1 83324 1.20013E-5 41662 0 3.98004E-6
15-43628014-A-G p.Thr62Ala missense ADAL 1 83302 1.20045E-5 41651 0 NA
15-43628016-T-A p.Thr62Thr synonymous ADAL 1 83298 1.20051E-5 41649 0 NA
15-43628023-G-A p.Glu65Lys missense+splice_region ADAL 1 83288 1.20065E-5 41644 0 3.18492E-5
15-43628024-A-G p.Glu65Gly missense+splice_region ADAL 1 83282 1.20074E-5 41641 0 NA
15-43628026-T-TA c.194+2_194+3insA splice_region ADAL 1 83266 1.20097E-5 41633 0 4.01078E-6
15-43628029-G-A c.194+5G>A splice_region ADAL 1 83272 1.20088E-5 41636 0 6.25E-4
15-43628823-G-C c.195-1G>C splice_acceptor ADAL 2 81676 2.4487E-5 40838 0 3.18695E-5
15-43628825-T-G p.Cys66Gly missense+splice_region ADAL 2 81710 2.44768E-5 40855 0 8.40124E-6
15-43628827-T-C p.Cys66Cys synonymous ADAL 2 81700 2.44798E-5 40850 0 4.19562E-5
15-43628830-C-G p.Phe67Leu missense ADAL 1 81846 1.22181E-5 40923 0 NA
15-43628838-T-G p.Phe70Cys missense ADAL 1 81916 1.22076E-5 40958 0 NA
15-43628846-A-G p.Ile73Val missense ADAL 1 81918 1.22073E-5 40959 0 2.34861E-5
15-43628849-C-T p.His74Tyr missense ADAL 1 81954 1.2202E-5 40977 0 8.3282E-6
15-43628853-A-C p.Gln75Pro missense ADAL 1 81950 1.22026E-5 40975 0 NA
15-43628853-A-G p.Gln75Arg missense ADAL 2 81950 2.44051E-5 40975 0 NA
15-43628854-G-GCTTA p.Ser78fs frameshift ADAL 3 81944 3.66104E-5 40972 0 3.18837E-5
15-43628858-A-C p.Thr77Pro missense ADAL 9 81904 1.09885E-4 40952 0 5.03525E-4
15-43628869-T-G p.Pro80Pro synonymous ADAL 1 81778 1.22282E-5 40889 0 NA
15-43628869-T-A p.Pro80Pro synonymous ADAL 2 81778 2.44565E-5 40889 0 NA
15-43628874-A-G p.Asp82Gly missense ADAL 7 81670 8.57108E-5 40835 0 0.00149758
15-43628877-T-C p.Ile83Thr missense ADAL 1 81632 1.22501E-5 40816 0 8.34669E-6
15-43628888-A-C c.255+4A>C splice_region ADAL 1 81338 1.22944E-5 40669 0 NA
15-43632455-A-T c.256-8A>T splice_region ADAL 1 82994 1.20491E-5 41497 0 NA
15-43632465-C-T p.Ser31Leu missense+splice_region ADAL 2 83066 2.40772E-5 41533 0 2.22873E-4
15-43632469-A-G p.Lys88Glu missense ADAL 2 83076 2.40743E-5 41538 0 2.22887E-4
15-43632478-A-G p.Ile91Val missense ADAL 5 83108 6.01627E-5 41554 0 3.9789E-6
15-43632478-A-T p.Ile91Leu missense ADAL 2 83108 2.40651E-5 41554 0 2.47264E-5
15-43632490-G-T p.Ala95Ser missense ADAL 33 83156 3.96844E-4 41578 0 0.00196928
15-43632496-G-T p.Asp97Tyr missense ADAL 1 83162 1.20247E-5 41581 0 NA
15-43632497-A-T p.Asp97Val missense ADAL 1 83150 1.20265E-5 41575 0 8.23927E-6
15-43632498-C-T p.Asp97Asp synonymous ADAL 7 83134 8.42014E-5 41567 0 2.34815E-4
15-43632499-G-A p.Gly98Ser missense ADAL 3 83126 3.60898E-5 41563 0 8.23913E-6
15-43632502-G-A p.Val99Ile missense ADAL 1 83120 1.20308E-5 41560 0 6.3674E-5
15-43632522-G-A p.Arg105Arg synonymous ADAL 1 83136 1.20285E-5 41568 0 3.29522E-5
15-43632532-A-G p.Arg109Gly missense ADAL 1 83104 1.20331E-5 41552 0 NA
15-43632538-G-C p.Glu111Gln missense ADAL 1 83046 1.20415E-5 41523 0 8.23859E-6
15-43632538-G-T p.Glu111* stop_gained ADAL 1 83046 1.20415E-5 41523 0 9.55536E-5
15-43632549-T-C p.Thr114Thr splice_region+synonymous ADAL 32887 82246 0.399861 41123 7508 0.445116
15-43632556-A-T c.343+6A>T splice_region ADAL 2 82832 2.41453E-5 41416 0 NA
15-43635184-C-A c.344-8C>A splice_region ADAL 30 81080 3.70005E-4 40540 0 0.00167619
15-43635184-C-T c.344-8C>T splice_region ADAL 4 81086 4.93303E-5 40543 0 4.50605E-6
15-43635197-A-T p.Thr117Ser missense ADAL 1 81510 1.22684E-5 40755 0 8.25573E-6
15-43635202-A-G p.Lys118Lys synonymous ADAL 3 81650 3.67422E-5 40825 0 1.56854E-4
15-43635203-A-G p.Lys119Glu missense ADAL 1 81692 1.22411E-5 40846 0 8.8881E-6
15-43635207-CTT-C p.Tyr121fs frameshift ADAL 2 81722 2.44732E-5 40861 0 NA
15-43635211-T-C p.Tyr121Tyr synonymous ADAL 1 81786 1.2227E-5 40893 0 3.18735E-5
15-43635229-A-G p.Glu127Glu synonymous ADAL 1 81976 1.21987E-5 40988 0 4.27475E-6
15-43635231-G-T p.Gly128Val missense ADAL 2 81930 2.44111E-5 40965 0 3.18613E-5
15-43635233-A-G p.Ile129Val missense ADAL 1 81954 1.2202E-5 40977 0 NA
15-43635247-A-G p.Lys133Lys synonymous ADAL 117 81972 0.00142732 40986 3 0.00350164
15-43635263-A-G p.Ile139Val missense ADAL 2 81818 2.44445E-5 40909 0 0.00125
15-43635276-A-G c.425+3A>G splice_region ADAL 4333 81360 0.0532571 40680 139 0.0512426
15-43635280-AG-A c.425+8delG splice_region ADAL 1 81534 1.22648E-5 40767 0 4.58253E-6
15-43635281-G-T c.425+8G>T splice_region ADAL 65 81480 7.97742E-4 40740 1 8.26834E-4
15-43638045-A-G c.426-7A>G splice_region ADAL 1 83304 1.20042E-5 41652 0 2.47198E-5
15-43638063-C-T p.Ala146Val missense ADAL 1 83328 1.20008E-5 41664 0 NA
15-43638068-G-T p.Asp148Tyr missense ADAL 1 83332 1.20002E-5 41666 0 8.23764E-6
15-43638079-T-G p.Gly151Gly synonymous ADAL 1 83342 1.19988E-5 41671 0 NA
15-43638082-C-T p.Gly152Gly synonymous ADAL 3 83346 3.59945E-5 41673 0 1.64742E-5
15-43638100-G-C p.Glu158Asp missense ADAL 1 83352 1.19973E-5 41676 0 NA
15-43638116-G-A p.Glu164Lys missense ADAL 7 83362 8.39711E-5 41681 0 7.41278E-5
15-43638134-A-C p.Thr170Pro missense ADAL 1 83360 1.19962E-5 41680 0 7.95292E-6
15-43638139-G-A p.Glu171Glu synonymous ADAL 1 83360 1.19962E-5 41680 0 3.1841E-5
15-43638141-G-T p.Gly172Val missense ADAL 2 83358 2.39929E-5 41679 0 1.89438E-4
15-43638142-T-C p.Gly172Gly synonymous ADAL 2 83356 2.39935E-5 41678 0 3.97646E-6
15-43638143-A-C p.Thr173Pro missense ADAL 1 83354 1.1997E-5 41677 0 3.97646E-6
15-43638145-A-G p.Thr173Thr synonymous ADAL 1 83354 1.1997E-5 41677 0 3.18532E-5
15-43638149-C-T p.Leu175Phe missense ADAL 1 83358 1.19964E-5 41679 0 NA
15-43638160-C-T p.Asp178Asp synonymous ADAL 1 83350 1.19976E-5 41675 0 7.9538E-6
15-43638172-C-A p.Asp182Glu missense ADAL 1 83332 1.20002E-5 41666 0 1.1935E-5
15-43638173-C-A p.Pro183Thr missense ADAL 2 83336 2.39992E-5 41668 0 NA
15-43638176-A-G p.Thr184Ala missense+splice_region ADAL 1 83326 1.20011E-5 41663 0 NA
15-43638181-A-G c.552+3A>G splice_region ADAL 1 83312 1.20031E-5 41656 0 NA
15-43639199-ACTTTTAT-A c.553-14_553-8delCTTTTAT splice_region ADAL 1 82162 1.21711E-5 41081 0 NA
15-43639210-T-C c.553-4T>C splice_region ADAL 13 82332 1.57897E-4 41166 0 2.86515E-4
15-43639218-G-C p.Gly186Ala missense ADAL 1 82448 1.21289E-5 41224 0 5.80797E-5
15-43639220-C-G p.Gln187Glu missense ADAL 2 82468 2.42518E-5 41234 0 8.29738E-6
15-43639259-A-G p.Lys200Glu missense ADAL 1 82378 1.21392E-5 41189 0 NA
15-43641116-A-G p.Gln215Gln synonymous ADAL 9 83230 1.08134E-4 41615 0 2.87118E-4
15-43641118-A-G p.Lys216Arg missense ADAL 3 83228 3.60456E-5 41614 0 2.48053E-5
15-43641123-GAAACACA-G p.Thr219fs frameshift ADAL 2 83240 2.40269E-5 41620 0 3.18837E-5
15-43641150-CCTG-C p.Pro227_Asp228delinsHis disruptive_inframe_deletion ADAL 5 83252 6.00586E-5 41626 0 4.94968E-5
15-43641158-A-G p.Arg229Arg synonymous ADAL 2 83254 2.40229E-5 41627 0 NA
15-43641161-C-T p.Ile230Ile synonymous ADAL 5 83248 6.00615E-5 41624 0 3.30028E-5
15-43641164-G-T p.Gly231Gly synonymous ADAL 4 83232 4.80584E-5 41616 0 2.47529E-5
15-43641166-A-G p.His232Arg missense ADAL 1 83228 1.20152E-5 41614 0 NA
15-43641170-A-G p.Gly233Gly synonymous ADAL 1 83234 1.20143E-5 41617 0 8.2526E-6
15-43641181-A-G p.Asn237Ser missense ADAL 352 83226 0.00422945 41613 6 0.0105501
15-43641181-A-C p.Asn237Thr missense ADAL 1 83232 1.20146E-5 41616 0 NA
15-43641185-C-T p.Ser238Ser synonymous ADAL 601 83200 0.00722356 41600 5 0.0115316
15-43641186-G-A p.Gly239Ser missense ADAL 67 83214 8.05153E-4 41607 1 0.00146525
15-43641204-G-A p.Asp245Asn missense ADAL 2 83170 2.40471E-5 41585 0 NA
15-43641210-G-C p.Val247Leu missense ADAL 2 83142 2.40552E-5 41571 0 3.97972E-6
15-43641225-CA-C p.Gln252fs frameshift ADAL 1 83060 1.20395E-5 41530 0 NA
15-43641229-A-G p.His253Arg missense ADAL 1 83030 1.20438E-5 41515 0 5.03525E-4
15-43641232-G-A p.Arg254Gln missense ADAL 122 82992 0.00147002 41496 0 0.00160817
15-43641234-A-C p.Ile255Leu missense ADAL 2 82966 2.41063E-5 41483 0 NA
15-43641237-C-CATCGGATACATCGGATA p.Pro256fs frameshift ADAL 1 82922 1.20595E-5 41461 0 3.98368E-6
15-43641238-C-T p.Pro256Leu missense ADAL 7 82904 8.4435E-5 41452 0 9.55901E-5
15-43641240-CT-TC p.Leu257Ser missense+splice_region ADAL 1 82906 1.20619E-5 41453 0 NA
15-43641243-G-GAACTCTGTTTGACCTCAAACGTCAAAA c.772_772+1insAACTCTGTTTGACCTCAAACGTCAAAA splice_donor ADAL 1 82910 1.20613E-5 41455 0 NA
15-43641263-G-A p.Arg264Arg synonymous ADAL 1 82602 1.21062E-5 41301 0 NA
15-43641274-G-C p.Ter268Serext*? stop_lost ADAL 4 82436 4.85225E-5 41218 0 6.37024E-5
15-43643133-A-G c.773-6A>G splice_region ADAL 1 81248 1.2308E-5 40624 0 NA
15-43643143-CTGTT-C p.Cys260fs frameshift ADAL 1 81342 1.22938E-5 40671 0 5.05408E-5
15-43643152-C-T p.Thr262Thr synonymous ADAL 1 81362 1.22908E-5 40681 0 NA
15-43643158-C-T p.Asn264Asn synonymous ADAL 1 81392 1.22862E-5 40696 0 1.94775E-5
15-43643185-T-C p.Tyr273Tyr synonymous ADAL 1 81438 1.22793E-5 40719 0 NA
15-43643192-C-T p.His276Tyr missense ADAL 1 81450 1.22775E-5 40725 0 NA
15-43643194-C-A p.His276Gln missense ADAL 1 81444 1.22784E-5 40722 0 NA
15-43643200-C-T p.Phe278Phe synonymous ADAL 12 81430 1.47366E-4 40715 0 2.52296E-4
15-43643201-G-A p.Gly279Arg missense ADAL 2 81430 2.4561E-5 40715 0 6.4903E-6
15-43643222-C-A p.His286Asn missense ADAL 2 81388 2.45736E-5 40694 0 6.37105E-5
15-43643233-G-T p.Val289Val synonymous ADAL 5 81348 6.14643E-5 40674 0 5.04541E-5
15-43643251-C-T p.Ser108Ser synonymous ADAL 8 81188 9.85367E-5 40594 0 3.18756E-4
15-43643941-G-A c.874-8G>A splice_region ADAL 73 81018 9.01034E-4 40509 0 7.6477E-4
15-43643942-T-TTGGCAGACTGATGATAAGGGTG p.Phe298fs frameshift ADAL 1 81052 1.23378E-5 40526 0 NA
15-43643962-G-A p.Gly296Asp missense ADAL 1 81206 1.23144E-5 40603 0 NA
15-43643979-C-A p.Leu302Ile missense ADAL 262 81280 0.00322343 40640 6 0.0073384
15-43643983-C-G p.Ser303Cys missense ADAL 1 81292 1.23013E-5 40646 0 NA
15-43643990-G-A p.Glu305Glu synonymous ADAL 6 81316 7.37862E-5 40658 0 4.08831E-4
15-43643997-CTGGCAGCTGAAACATTTAATT-C p.Ala309_Leu315del conservative_inframe_deletion ADAL 2 81336 2.45894E-5 40668 0 NA
15-43643997-C-A p.Leu308Met missense ADAL 1 81336 1.22947E-5 40668 0 NA
15-43644010-C-T p.Thr312Ile missense ADAL 2 81352 2.45845E-5 40676 0 2.22944E-4
15-43644031-A-G p.Gln319Arg missense ADAL 1 81380 1.2288E-5 40690 0 NA
15-43644032-GGT-G p.Trp321fs frameshift ADAL 4 81380 4.91521E-5 40690 0 NA
15-43644046-C-A p.Ser324Tyr missense ADAL 1 81394 1.22859E-5 40697 0 NA
15-43644055-C-T p.Ser327Phe missense ADAL 1 81404 1.22844E-5 40702 0 NA
15-43644068-C-T p.Ile331Ile synonymous ADAL 1 81404 1.22844E-5 40702 0 NA
15-43644074-T-C p.Ala333Ala synonymous ADAL 1 81408 1.22838E-5 40704 0 NA
15-43644076-C-T p.Ser334Phe missense ADAL 1 81410 1.22835E-5 40705 0 NA
15-43644091-C-G p.Ser339Cys missense ADAL 1 81398 1.22853E-5 40699 0 0.00144928
15-43644098-G-T p.Leu341Leu synonymous ADAL 1 81396 1.22856E-5 40698 0 NA
15-43644109-G-A p.Trp345* stop_gained ADAL 1 81378 1.22883E-5 40689 0 NA
15-43644124-C-T p.Pro350Leu missense ADAL 2 81352 2.45845E-5 40676 0 6.53219E-6
15-43644126-A-C p.Arg351Arg synonymous ADAL 2 81338 2.45888E-5 40669 0 NA
15-43644127-GA-G p.Val352fs frameshift ADAL 2 81334 2.459E-5 40667 0 6.52929E-6
15-43644129-G-A p.Val352Met missense ADAL 1 81326 1.22962E-5 40663 0 1.30967E-5
15-43644131-GTT-G p.Leu353fs frameshift ADAL 2 81314 2.4596E-5 40657 0 6.57134E-6
15-43644131-G-A p.Val352Val synonymous ADAL 1 81314 1.2298E-5 40657 0 NA
15-43644134-ACATAT-A p.His354fs frameshift ADAL 2 81314 2.4596E-5 40657 0 6.56409E-6
15-43644286-G-A c.*143G>A splice_region ADAL 1 56422 1.77236E-5 28211 0 NA