Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-100229000-A-G p.Phe375Phe synonymous ADH1B 1 83290 1.20062E-5 41645 0 8.24063E-6
4-100229003-C-T p.Thr374Thr synonymous ADH1B 3 83286 3.60205E-5 41643 0 3.97693E-5
4-100229011-C-T p.Val372Ile missense ADH1B 6 83272 7.2053E-5 41636 0 5.28541E-4
4-100229012-G-A p.Thr371Thr synonymous ADH1B 6 83272 7.2053E-5 41636 0 2.54842E-4
4-100229012-G-T p.Thr371Thr synonymous ADH1B 1 83272 1.20088E-5 41636 0 NA
4-100229016-C-T p.Arg370His missense ADH1B 312 83248 0.00374784 41624 0 0.0125
4-100229017-G-A p.Arg370Cys missense ADH1B 2206 83224 0.0265068 41612 149 0.0536466
4-100229021-A-C p.Ser368Arg missense+splice_region ADH1B 53 83236 6.36744E-4 41618 0 0.00211416
4-100229026-A-G c.1104-5T>C splice_region ADH1B 1 83198 1.20195E-5 41599 0 NA
4-100229028-T-C c.1104-7A>G splice_region ADH1B 1 83196 1.20198E-5 41598 0 8.24307E-6
4-100231916-A-G c.1103+6T>C splice_region ADH1B 1 83254 1.20114E-5 41627 0 9.55171E-5
4-100231917-T-C c.1103+5A>G splice_region ADH1B 239 83238 0.00287128 41619 1 0.00636983
4-100231919-T-C c.1103+3A>G splice_region ADH1B 2 83258 2.40217E-5 41629 0 8.24851E-6
4-100231929-C-T p.Gly366Arg missense ADH1B 3 83254 3.60343E-5 41627 0 4.95884E-5
4-100231971-G-A p.Pro352Ser missense ADH1B 1 83268 1.20094E-5 41634 0 3.99818E-6
4-100231975-A-G p.Val350Val synonymous ADH1B 1 83266 1.20097E-5 41633 0 8.24416E-6
4-100231978-A-G p.His349His synonymous ADH1B 1 83272 1.20088E-5 41636 0 NA
4-100231990-C-T p.Ala345Ala synonymous ADH1B 1 83258 1.20109E-5 41629 0 2.38916E-5
4-100231991-G-A p.Ala345Val missense ADH1B 2 83254 2.40229E-5 41627 0 9.89038E-5
4-100231993-A-G p.Asp344Asp synonymous ADH1B 1 83256 1.20111E-5 41628 0 1.64837E-5
4-100231997-A-C p.Leu343Arg missense ADH1B 1 83244 1.20129E-5 41622 0 3.1841E-5
4-100232009-T-G p.Lys339Thr missense ADH1B 1 83218 1.20166E-5 41609 0 NA
4-100232014-C-T p.Met337Ile missense ADH1B 1 83224 1.20158E-5 41612 0 2.63691E-4
4-100232024-G-A p.Ala334Val missense ADH1B 1 83238 1.20137E-5 41619 0 8.23995E-6
4-100232029-A-G p.Leu332Leu synonymous ADH1B 1 83240 1.20135E-5 41620 0 NA
4-100232042-C-T p.Gly328Asp missense ADH1B 1 83234 1.20143E-5 41617 0 5.03525E-4
4-100232046-CT-C p.Glu327fs frameshift ADH1B 1 83224 1.20158E-5 41612 0 NA
4-100232048-T-C p.Lys326Arg missense ADH1B 1 83224 1.20158E-5 41612 0 3.58683E-5
4-100232053-C-A p.Lys324Asn missense ADH1B 1 83216 1.20169E-5 41608 0 8.24103E-6
4-100232059-G-A p.Gly322Gly splice_region+synonymous ADH1B 2 83210 2.40356E-5 41605 0 4.00734E-6
4-100232066-A-G c.965-6T>C splice_region ADH1B 2 83204 2.40373E-5 41602 0 2.00886E-5
4-100232692-C-G p.Gly317Ala missense ADH1B 1 83384 1.19927E-5 41692 0 NA
4-100232704-C-T p.Arg313His missense ADH1B 28 83392 3.35764E-4 41696 0 0.00125
4-100232704-C-A p.Arg313Leu missense ADH1B 3 83392 3.59747E-5 41696 0 3.18451E-5
4-100232704-C-G p.Arg313Pro missense ADH1B 1 83392 1.19916E-5 41696 0 NA
4-100232705-G-A p.Arg313Cys missense ADH1B 34 83392 4.07713E-4 41696 0 0.00654582
4-100232723-T-C p.Met307Val missense ADH1B 3 83404 3.59695E-5 41702 0 2.38656E-5
4-100232733-T-C p.Ser303Ser synonymous ADH1B 1 83402 1.19901E-5 41701 0 NA
4-100232743-T-G p.Gln300Pro missense ADH1B 4 83404 4.79593E-5 41702 0 3.18492E-5
4-100232749-G-C p.Ala298Gly missense ADH1B 1 83404 1.19898E-5 41702 0 NA
4-100232753-G-A p.Pro297Ser missense ADH1B 1 83402 1.19901E-5 41701 0 8.23791E-6
4-100232761-C-G p.Gly294Ala missense ADH1B 5 83396 5.99549E-5 41698 0 4.77293E-5
4-100232764-A-G p.Val293Ala missense ADH1B 2 83398 2.39814E-5 41699 0 6.36983E-5
4-100232765-C-T p.Val293Ile missense ADH1B 7 83392 8.39409E-5 41696 0 1.19324E-5
4-100232771-C-T p.Val291Ile missense ADH1B 1 83384 1.19927E-5 41692 0 6.25E-4
4-100232772-G-A p.Ser290Ser synonymous ADH1B 3 83384 3.59781E-5 41692 0 1.19341E-5
4-100232773-C-T p.Ser290Asn missense ADH1B 17 83384 2.03876E-4 41692 0 5.03525E-4
4-100232783-A-T p.Cys287Ser missense ADH1B 4 83376 4.79754E-5 41688 0 3.1839E-5
4-100232785-G-A p.Ala286Val missense ADH1B 10 83374 1.19941E-4 41687 0 9.55353E-5
4-100232796-A-ACAT p.Leu281_Cys282insTer stop_gained ADH1B 1 83372 1.19944E-5 41686 0 NA
4-100232799-T-A p.Leu281Phe missense ADH1B 1 83368 1.1995E-5 41684 0 8.24416E-6
4-100232802-C-G p.Leu280Leu synonymous ADH1B 2 83360 2.39923E-5 41680 0 8.2462E-6
4-100232806-G-A p.Ser279Phe missense ADH1B 2 83352 2.39946E-5 41676 0 3.98578E-6
4-100232814-C-T c.829-1G>A splice_acceptor ADH1B 1 83314 1.20028E-5 41657 0 7.97162E-6
4-100234973-C-T c.828+5G>A splice_region ADH1B 3 82970 3.61576E-5 41485 0 NA
4-100234975-T-C c.828+3A>G splice_region ADH1B 1 82966 1.20531E-5 41483 0 NA
4-100234983-T-G p.Thr275Pro missense ADH1B 1 82928 1.20587E-5 41464 0 NA
4-100234990-C-T p.Arg272Arg synonymous ADH1B 1 82900 1.20627E-5 41450 0 NA
4-100234991-C-T p.Arg272Gln missense ADH1B 3 82882 3.6196E-5 41441 0 0.0021584
4-100234992-G-A p.Arg272Trp missense ADH1B 1 82886 1.20648E-5 41443 0 3.18631E-5
4-100234995-C-T p.Gly271Ser missense ADH1B 96 82876 0.00115836 41438 0 6.97033E-4
4-100235008-C-T p.Ser266Ser synonymous ADH1B 4 82846 4.82824E-5 41423 0 1.59256E-4
4-100235026-A-C p.Asp260Glu missense ADH1B 1 82744 1.20855E-5 41372 0 1.19415E-5
4-100235032-C-T p.Met258Ile missense ADH1B 3 82748 3.62547E-5 41374 0 1.9101E-4
4-100235039-T-A p.Lys256Met missense ADH1B 1 82738 1.20863E-5 41369 0 2.38747E-5
4-100235043-G-A p.Leu255Leu synonymous ADH1B 65 82690 7.86068E-4 41345 0 0.00280166
4-100235047-T-C p.Glu253Glu synonymous ADH1B 4 82754 4.8336E-5 41377 0 6.36983E-5
4-100235049-C-T p.Glu253Lys missense ADH1B 1 82746 1.20852E-5 41373 0 NA
4-100235049-C-A p.Glu253* stop_gained ADH1B 3 82746 3.62555E-5 41373 0 5.96744E-5
4-100235053-A-G p.Ile251Ile synonymous ADH1B 67328 81678 0.82431 40839 27824 0.81631
4-100235070-C-T p.Asp246Asn missense ADH1B 1 82842 1.20712E-5 41421 0 8.23737E-6
4-100235093-G-A p.Ala238Val missense ADH1B 1 83084 1.2036E-5 41542 0 3.18573E-5
4-100235097-C-A p.Gly237Cys missense ADH1B 2 83134 2.40575E-5 41567 0 NA
4-100235101-C-T p.Glu235Glu synonymous ADH1B 2 83184 2.40431E-5 41592 0 8.23655E-6
4-100235139-C-G p.Val223Leu missense ADH1B 2 83332 2.40004E-5 41666 0 4.7719E-5
4-100235139-C-T p.Val223Met missense ADH1B 1 83332 1.20002E-5 41666 0 NA
4-100235140-C-A p.Ala222Ala synonymous ADH1B 1718 82556 0.0208101 41278 30 0.0308001
4-100235140-C-T p.Ala222Ala synonymous ADH1B 2 83334 2.39998E-5 41667 0 3.18512E-5
4-100235141-G-A p.Ala222Val missense ADH1B 1 83338 1.19993E-5 41669 0 3.29457E-5
4-100235153-G-T p.Ala218Asp missense ADH1B 1 83368 1.1995E-5 41684 0 NA
4-100235158-T-C p.Gly216Gly synonymous ADH1B 1 83368 1.1995E-5 41684 0 6.25E-4
4-100235167-T-C p.Lys213Lys synonymous ADH1B 4 83378 4.79743E-5 41689 0 3.1839E-5
4-100235169-T-TA p.Lys213fs frameshift ADH1B 1 83370 1.19947E-5 41685 0 NA
4-100235171-C-T p.Cys212Tyr missense ADH1B 1 83364 1.19956E-5 41682 0 NA
4-100235181-C-T p.Val209Ile missense ADH1B 2 83340 2.39981E-5 41670 0 5.9654E-5
4-100235183-G-A p.Ala208Val missense ADH1B 6 83344 7.19908E-5 41672 0 5.03525E-4
4-100235188-T-G p.Leu206Leu synonymous ADH1B 2 83324 2.40027E-5 41662 0 7.9538E-5
4-100235194-G-A p.Val204Val synonymous ADH1B 724 83264 0.00869523 41632 11 0.0197808
4-100235197-C-T p.Gly203Gly synonymous ADH1B 1 83292 1.2006E-5 41646 0 NA
4-100235199-C-T p.Gly203Arg missense ADH1B 2 83290 2.40125E-5 41645 0 1.91071E-4
4-100235222-G-A p.Thr195Ile missense ADH1B 4 83018 4.81823E-5 41509 0 4.38045E-5
4-100235227-G-C p.Gly193Gly synonymous ADH1B 4 82832 4.82905E-5 41416 0 NA
4-100235232-G-A p.Pro192Ser missense ADH1B 1 82598 1.21068E-5 41299 0 8.28212E-6
4-100237049-TC-T c.567+5delG splice_region ADH1B 6 83252 7.20703E-5 41626 0 3.18431E-5
4-100237050-C-A c.567+5G>T splice_region ADH1B 1 83254 1.20114E-5 41627 0 NA
4-100237052-C-CT c.567+2_567+3insA splice_donor ADH1B 6 83266 7.20582E-5 41633 0 3.18329E-5
4-100237062-A-T p.Val187Asp missense ADH1B 1 83296 1.20054E-5 41648 0 NA
4-100237063-C-T p.Val187Ile missense ADH1B 5 83290 6.00312E-5 41645 0 0.00100705
4-100237064-G-T p.Asn186Lys missense ADH1B 6 83296 7.20323E-5 41648 0 3.1841E-5
4-100237064-G-A p.Asn186Asn synonymous ADH1B 6 83294 7.2034E-5 41647 0 3.58055E-5
4-100237067-A-G p.Val185Val synonymous ADH1B 6 83302 7.20271E-5 41651 0 3.1839E-5
4-100237080-T-A p.Tyr181Phe missense ADH1B 1 83326 1.20011E-5 41663 0 1.59079E-5
4-100237088-C-T p.Ser178Ser synonymous ADH1B 27 83324 3.24036E-4 41662 0 2.5535E-4
4-100237089-G-A p.Ser178Leu missense ADH1B 4 83316 4.801E-5 41658 0 0.00125
4-100237091-G-A p.Phe177Phe synonymous ADH1B 2 83318 2.40044E-5 41659 0 3.29484E-5
4-100237098-C-T p.Cys175Tyr missense ADH1B 1 83316 1.20025E-5 41658 0 3.18471E-5
4-100237104-A-G p.Ile173Thr missense ADH1B 2 83314 2.40056E-5 41657 0 1.8121E-4
4-100237105-T-A p.Ile173Phe missense ADH1B 3 83316 3.60075E-5 41658 0 3.1841E-5
4-100237105-T-G p.Ile173Leu missense ADH1B 1 83316 1.20025E-5 41658 0 9.88419E-5
4-100237105-T-C p.Ile173Val missense ADH1B 1 83316 1.20025E-5 41658 0 1.64737E-5
4-100237106-G-A p.Leu172Leu synonymous ADH1B 1 83316 1.20025E-5 41658 0 NA
4-100237120-C-T p.Glu168Lys missense ADH1B 1 83314 1.20028E-5 41657 0 NA
4-100237127-C-T p.Ser165Ser synonymous ADH1B 131 83304 0.00157255 41652 1 0.00463751
4-100237139-A-G p.Ile161Ile synonymous ADH1B 7 83300 8.40336E-5 41650 0 1.15317E-4
4-100237140-A-G p.Ile161Thr missense ADH1B 2 83296 2.40108E-5 41648 0 3.18471E-5
4-100237149-A-G p.Val158Ala missense ADH1B 1 83278 1.2008E-5 41639 0 NA
4-100237154-A-G p.Asn156Asn synonymous ADH1B 2 83286 2.40136E-5 41643 0 3.97757E-6
4-100237169-C-T p.Thr151Thr synonymous ADH1B 87 83270 0.00104479 41635 0 0.00222859
4-100237174-A-G p.Tyr150His missense ADH1B 2 83272 2.40177E-5 41636 0 8.23737E-6
4-100237179-G-A p.Ser148Phe missense ADH1B 1 83260 1.20106E-5 41630 0 NA
4-100237198-G-A p.Leu142Phe missense ADH1B 1 83264 1.201E-5 41632 0 NA
4-100237199-G-A p.Phe141Phe synonymous ADH1B 1 83260 1.20106E-5 41630 0 9.55353E-5
4-100237205-G-A p.His139His synonymous ADH1B 4 83258 4.80434E-5 41629 0 8.23791E-6
4-100237209-A-G p.Ile138Thr missense ADH1B 4 83254 4.80457E-5 41627 0 6.36821E-5
4-100237220-C-T p.Arg134Arg synonymous ADH1B 6 83254 7.20686E-5 41627 0 9.55536E-5
4-100237222-T-C p.Arg134Gly missense ADH1B 1 83236 1.2014E-5 41618 0 NA
4-100237223-G-A p.Cys133Cys synonymous ADH1B 2 83238 2.40275E-5 41619 0 2.47182E-5
4-100237246-C-A p.Asp126Tyr missense ADH1B 1 83256 1.20111E-5 41628 0 3.98013E-6
4-100237256-C-A p.Gly122Gly synonymous ADH1B 5 83258 6.00543E-5 41629 0 1.56618E-4
4-100237260-C-G p.Arg121Pro missense ADH1B 4 83250 4.8048E-5 41625 0 5.03525E-4
4-100237260-C-T p.Arg121Gln missense ADH1B 6 83250 7.20721E-5 41625 0 3.29761E-5
4-100237282-G-C c.348-8C>G splice_region ADH1B 2 83266 2.40194E-5 41633 0 4.12167E-5
4-100237381-A-C p.Leu113Trp missense ADH1B 1 83346 1.19982E-5 41673 0 7.95513E-6
4-100237384-C-T p.Cys112Tyr missense ADH1B 1 83342 1.19988E-5 41671 0 3.18532E-5
4-100237393-C-A p.Ser109Ile missense ADH1B 3 83324 3.6004E-5 41662 0 2.38637E-5
4-100237395-C-G p.Glu108Asp missense ADH1B 3 83326 3.60032E-5 41663 0 6.25E-4
4-100237399-G-A p.Pro107Leu missense ADH1B 7 83316 8.40175E-5 41658 0 3.57978E-5
4-100237400-G-C p.Pro107Ala missense ADH1B 3 83314 3.60084E-5 41657 0 6.36355E-5
4-100237401-GTTTTTACAAACTCTGCATT-G p.Lys100fs frameshift ADH1B 1 83316 1.20025E-5 41658 0 NA
4-100237403-T-G p.Asn106His missense ADH1B 1 83316 1.20025E-5 41658 0 NA
4-100237406-T-C p.Lys105Glu missense ADH1B 1 83316 1.20025E-5 41658 0 3.18451E-5
4-100237407-A-G p.Cys104Cys synonymous ADH1B 1 83310 1.20034E-5 41655 0 NA
4-100237417-C-A p.Cys101Phe missense ADH1B 3 83294 3.6017E-5 41647 0 8.24498E-6
4-100237429-T-G p.Gln97Pro missense ADH1B 1 83270 1.20091E-5 41635 0 3.97829E-6
4-100237433-G-C p.Pro96Ala missense ADH1B 3 83260 3.60317E-5 41630 0 7.95722E-6
4-100237433-G-A p.Pro96Ser missense ADH1B 4 83260 4.80423E-5 41630 0 8.24933E-6
4-100237438-A-T p.Phe94Tyr missense ADH1B 2 83258 2.40217E-5 41629 0 5.04032E-4
4-100237440-G-C p.Leu93Leu synonymous ADH1B 1 83252 1.20117E-5 41626 0 8.25737E-6
4-100237443-C-T p.Pro92Pro synonymous ADH1B 1 83228 1.20152E-5 41614 0 1.07376E-4
4-100237444-G-A p.Pro92Leu missense ADH1B 1 83222 1.20161E-5 41611 0 1.19398E-5
4-100237445-G-A p.Pro92Ser missense ADH1B 9 83220 1.08147E-4 41610 0 3.18552E-5
4-100237457-C-T p.Asp88Asn missense+splice_region ADH1B 1 83202 1.20189E-5 41601 0 NA
4-100237463-G-C c.260-4C>G splice_region ADH1B 3 83194 3.60603E-5 41597 0 8.36009E-5
4-100239205-G-C p.Pro86Arg missense+splice_region ADH1B 1 83342 1.19988E-5 41671 0 0.00125156
4-100239210-G-A p.Val84Val synonymous ADH1B 1 83348 1.19979E-5 41674 0 3.18573E-5
4-100239220-AC-A p.Val81fs frameshift ADH1B 3 83346 3.59945E-5 41673 0 8.23845E-6
4-100239224-CT-C p.Val81fs frameshift ADH1B 2 83364 2.39912E-5 41682 1 NA
4-100239227-C-T p.Glu79Lys missense ADH1B 1 83368 1.1995E-5 41684 0 2.47125E-5
4-100239231-A-G p.Val77Val synonymous ADH1B 1 83362 1.19959E-5 41681 0 3.18918E-5
4-100239236-T-G p.Ser76Arg missense ADH1B 1 83362 1.19959E-5 41681 0 NA
4-100239242-C-T p.Val74Met missense ADH1B 1 83358 1.19964E-5 41679 0 1.19326E-5
4-100239242-C-CAGT p.Ile73_Val74insThr conservative_inframe_insertion ADH1B 1 83358 1.19964E-5 41679 0 NA
4-100239244-A-AC p.Ile73fs frameshift ADH1B 1 83364 1.19956E-5 41682 0 NA
4-100239246-G-GTATCACATCAT p.Ile73fs frameshift ADH1B 1 83364 1.19956E-5 41682 0 NA
4-100239248-C-T p.Gly72Ser missense ADH1B 2 83368 2.399E-5 41684 0 1.9888E-5
4-100239249-G-A p.Ala71Ala synonymous ADH1B 1 83360 1.19962E-5 41680 0 1.64742E-5
4-100239249-G-C p.Ala71Ala synonymous ADH1B 1 83360 1.19962E-5 41680 0 NA
4-100239251-C-T p.Ala71Thr missense ADH1B 1 83362 1.19959E-5 41681 0 NA
4-100239253-G-A p.Ala70Val missense ADH1B 1 83362 1.19959E-5 41681 0 2.78443E-5
4-100239253-G-T p.Ala70Glu missense ADH1B 1 83362 1.19959E-5 41681 0 NA
4-100239261-G-A p.Gly67Gly synonymous ADH1B 1 83360 1.19962E-5 41680 0 NA
4-100239268-A-G p.Ile65Thr missense ADH1B 221 83358 0.00265122 41679 1 0.00446087
4-100239273-AG-A p.Pro63fs frameshift ADH1B 5 83360 5.99808E-5 41680 0 3.18654E-5
4-100239273-A-G p.Pro63Pro synonymous ADH1B 1 83360 1.19962E-5 41680 0 3.18654E-5
4-100239282-G-T p.Thr60Thr synonymous ADH1B 1 83350 1.19976E-5 41675 0 NA
4-100239284-T-A p.Thr60Ser missense ADH1B 467 83328 0.00560436 41664 8 0.0100705
4-100239289-A-G p.Leu58Pro missense ADH1B 2 83344 2.39969E-5 41672 0 NA
4-100239306-G-A p.His52His synonymous ADH1B 1 83336 1.19996E-5 41668 0 NA
4-100239319-T-C p.His48Arg missense ADH1B 74416 81834 0.909353 40917 34415 0.939245
4-100239319-TG-CA p.His48Cys missense ADH1B 4 83326 4.80042E-5 41663 0 NA
4-100239319-T-G p.His48Pro missense ADH1B 2 83326 2.40021E-5 41663 0 NA
4-100239319-T-A p.His48Leu missense ADH1B 1 83326 1.20011E-5 41663 0 NA
4-100239320-G-A p.His48Tyr missense ADH1B 21 83322 2.52034E-4 41661 0 1.6475E-4
4-100239320-G-T p.His48Asn missense ADH1B 1 83322 1.20016E-5 41661 0 3.18532E-5
4-100239343-T-C c.121-2A>G splice_acceptor ADH1B 1 83272 1.20088E-5 41636 0 NA
4-100239344-A-G c.121-3T>C splice_region ADH1B 263 83266 0.00315855 41633 3 0.00710055
4-100239949-C-T p.Arg38His missense ADH1B 2 82434 2.42618E-5 41217 0 3.18735E-5
4-100239950-G-A p.Arg38Cys missense ADH1B 1 82498 1.21215E-5 41249 0 1.65325E-5
4-100239950-G-T p.Arg38Ser missense ADH1B 1 82498 1.21215E-5 41249 0 NA
4-100239961-G-A p.Ala34Val missense ADH1B 14 82800 1.69082E-4 41400 0 1.15552E-4
4-100239971-G-T p.Pro31Thr missense ADH1B 4 82878 4.82637E-5 41439 0 1.07521E-4
4-100239986-C-G p.Asp26His missense ADH1B 1 83006 1.20473E-5 41503 0 3.98048E-6
4-100239989-C-T p.Glu25Lys missense ADH1B 1 83026 1.20444E-5 41513 0 NA
4-100239996-A-G p.Phe22Phe synonymous ADH1B 1 83052 1.20406E-5 41526 0 7.95976E-6
4-100239998-A-G p.Phe22Leu missense ADH1B 1 83058 1.20398E-5 41529 0 NA
4-100240000-G-C p.Pro21Arg missense ADH1B 1 83078 1.20369E-5 41539 0 NA
4-100240002-T-C p.Lys20Lys synonymous ADH1B 2950 82988 0.0355473 41494 75 0.044639
4-100240016-A-G p.Trp16Arg missense ADH1B 171 83118 0.00205732 41559 6 0.00468123
4-100240018-A-G p.Leu15Pro missense ADH1B 2 83130 2.40587E-5 41565 0 8.24076E-6
4-100240050-A-G c.19-7T>C splice_region ADH1B 4 83134 4.81151E-5 41567 0 1.27397E-4
4-100242072-C-T c.19-1G>A splice_acceptor ADH1B 9 36656 2.45526E-4 18328 0 3.50542E-4
4-100242460-TTTTTG-T c.18+6_18+10delCAAAA splice_region ADH1B 2 82962 2.41074E-5 41481 0 2.47737E-5
4-100242467-T-TCA c.18+3_18+4insTG splice_region ADH1B 2 83018 2.40912E-5 41509 0 2.47688E-5
4-100242468-T-TCAATATAAC c.18+2_18+3insGTTATATTG splice_donor ADH1B 2 83014 2.40923E-5 41507 0 2.47656E-5
4-100242473-T-A p.Lys6* stop_gained ADH1B 1 83054 1.20404E-5 41527 0 NA
4-100242478-G-A p.Ala4Val missense ADH1B 2 83054 2.40807E-5 41527 0 NA
4-100242481-G-A p.Thr3Ile missense ADH1B 2 83066 2.40772E-5 41533 0 8.25014E-6
4-100242515-G-A c.-27C>T 5_prime_UTR_premature_start_codon_gain ADH1B 1 83028 1.20441E-5 41514 0 NA