Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-100229000-A-G p.Phe375Phe synonymous ADH1B 1 80988 1.23475E-5 40494 0 8.24063E-6
4-100229003-C-T p.Thr374Thr synonymous ADH1B 2 80982 2.46968E-5 40491 0 3.97693E-5
4-100229011-C-T p.Val372Ile missense ADH1B 6 80980 7.40924E-5 40490 0 5.28541E-4
4-100229012-G-A p.Thr371Thr synonymous ADH1B 6 80978 7.40942E-5 40489 0 2.54842E-4
4-100229012-G-T p.Thr371Thr synonymous ADH1B 1 80978 1.2349E-5 40489 0 NA
4-100229016-C-T p.Arg370His missense ADH1B 306 80954 0.00377992 40477 0 0.0125
4-100229017-G-A p.Arg370Cys missense ADH1B 2181 80934 0.0269479 40467 150 0.0536466
4-100229021-A-C p.Ser368Arg missense+splice_region ADH1B 52 80946 6.42404E-4 40473 0 0.00211416
4-100229026-A-G c.1104-5T>C splice_region ADH1B 1 80916 1.23585E-5 40458 0 NA
4-100229028-T-C c.1104-7A>G splice_region ADH1B 1 80920 1.23579E-5 40460 0 8.24307E-6
4-100231916-A-G c.1103+6T>C splice_region ADH1B 1 80934 1.23557E-5 40467 0 9.55171E-5
4-100231917-T-C c.1103+5A>G splice_region ADH1B 233 80918 0.00287946 40459 1 0.00636983
4-100231919-T-C c.1103+3A>G splice_region ADH1B 2 80938 2.47103E-5 40469 0 8.24851E-6
4-100231929-C-T p.Gly366Arg missense ADH1B 3 80940 3.70645E-5 40470 0 4.95884E-5
4-100231971-G-A p.Pro352Ser missense ADH1B 1 80954 1.23527E-5 40477 0 3.99818E-6
4-100231975-A-G p.Val350Val synonymous ADH1B 1 80952 1.2353E-5 40476 0 8.24416E-6
4-100231978-A-G p.His349His synonymous ADH1B 1 80958 1.23521E-5 40479 0 NA
4-100231990-C-T p.Ala345Ala synonymous ADH1B 1 80944 1.23542E-5 40472 0 2.38916E-5
4-100231991-G-A p.Ala345Val missense ADH1B 2 80940 2.47097E-5 40470 0 9.89038E-5
4-100231993-A-G p.Asp344Asp synonymous ADH1B 1 80940 1.23548E-5 40470 0 1.64837E-5
4-100231997-A-C p.Leu343Arg missense ADH1B 1 80928 1.23567E-5 40464 0 3.1841E-5
4-100232009-T-G p.Lys339Thr missense ADH1B 1 80918 1.23582E-5 40459 0 NA
4-100232014-C-T p.Met337Ile missense ADH1B 1 80926 1.2357E-5 40463 0 2.63691E-4
4-100232024-G-A p.Ala334Val missense ADH1B 1 80938 1.23551E-5 40469 0 8.23995E-6
4-100232029-A-G p.Leu332Leu synonymous ADH1B 1 80942 1.23545E-5 40471 0 NA
4-100232048-T-C p.Lys326Arg missense ADH1B 1 80922 1.23576E-5 40461 0 3.58683E-5
4-100232053-C-A p.Lys324Asn missense ADH1B 1 80916 1.23585E-5 40458 0 8.24103E-6
4-100232066-A-G c.965-6T>C splice_region ADH1B 2 80904 2.47207E-5 40452 0 2.00886E-5
4-100232692-C-G p.Gly317Ala missense ADH1B 1 81074 1.23344E-5 40537 0 NA
4-100232704-C-T p.Arg313His missense ADH1B 27 81088 3.32972E-4 40544 0 0.00125
4-100232704-C-A p.Arg313Leu missense ADH1B 3 81088 3.69968E-5 40544 0 3.18451E-5
4-100232704-C-G p.Arg313Pro missense ADH1B 1 81088 1.23323E-5 40544 0 NA
4-100232705-G-A p.Arg313Cys missense ADH1B 21 81088 2.58978E-4 40544 0 0.00654582
4-100232723-T-C p.Met307Val missense ADH1B 3 81098 3.69923E-5 40549 0 2.38656E-5
4-100232733-T-C p.Ser303Ser synonymous ADH1B 1 81096 1.23311E-5 40548 0 NA
4-100232743-T-G p.Gln300Pro missense ADH1B 4 81096 4.93243E-5 40548 0 3.18492E-5
4-100232749-G-C p.Ala298Gly missense ADH1B 1 81096 1.23311E-5 40548 0 NA
4-100232753-G-A p.Pro297Ser missense ADH1B 1 81092 1.23317E-5 40546 0 8.23791E-6
4-100232761-C-G p.Gly294Ala missense ADH1B 5 81086 6.16629E-5 40543 0 4.77293E-5
4-100232764-A-G p.Val293Ala missense ADH1B 2 81088 2.46646E-5 40544 0 6.36983E-5
4-100232765-C-T p.Val293Ile missense ADH1B 5 81082 6.1666E-5 40541 0 1.19324E-5
4-100232771-C-T p.Val291Ile missense ADH1B 1 81076 1.23341E-5 40538 0 6.25E-4
4-100232772-G-A p.Ser290Ser synonymous ADH1B 3 81076 3.70023E-5 40538 0 1.19341E-5
4-100232773-C-T p.Ser290Asn missense ADH1B 17 81076 2.0968E-4 40538 0 5.03525E-4
4-100232783-A-T p.Cys287Ser missense ADH1B 4 81068 4.93413E-5 40534 0 3.1839E-5
4-100232785-G-A p.Ala286Val missense ADH1B 8 81066 9.8685E-5 40533 0 9.55353E-5
4-100232796-A-ACAT p.Leu281_Cys282insTer stop_gained ADH1B 1 81060 1.23365E-5 40530 0 NA
4-100232799-T-A p.Leu281Phe missense ADH1B 1 81058 1.23368E-5 40529 0 8.24416E-6
4-100232802-C-G p.Leu280Leu synonymous ADH1B 2 81050 2.46761E-5 40525 0 8.2462E-6
4-100232806-G-A p.Ser279Phe missense ADH1B 2 81040 2.46792E-5 40520 0 3.98578E-6
4-100232814-C-T c.829-1G>A splice_acceptor ADH1B 1 81002 1.23454E-5 40501 0 7.97162E-6
4-100234973-C-T c.828+5G>A splice_region ADH1B 3 80652 3.71968E-5 40326 0 NA
4-100234975-T-C c.828+3A>G splice_region ADH1B 1 80648 1.23996E-5 40324 0 NA
4-100234990-C-T p.Arg272Arg synonymous ADH1B 1 80582 1.24097E-5 40291 0 NA
4-100234991-C-T p.Arg272Gln missense ADH1B 3 80566 3.72366E-5 40283 0 0.0021584
4-100234992-G-A p.Arg272Trp missense ADH1B 2 80568 2.48238E-5 40284 0 3.18631E-5
4-100234995-C-T p.Gly271Ser missense ADH1B 97 80558 0.0012041 40279 0 6.97033E-4
4-100235008-C-T p.Ser266Ser synonymous ADH1B 4 80528 4.96722E-5 40264 0 1.59256E-4
4-100235026-A-C p.Asp260Glu missense ADH1B 1 80426 1.24338E-5 40213 0 1.19415E-5
4-100235032-C-T p.Met258Ile missense ADH1B 3 80430 3.72995E-5 40215 0 1.9101E-4
4-100235039-T-A p.Lys256Met missense ADH1B 1 80420 1.24347E-5 40210 0 2.38747E-5
4-100235043-G-A p.Leu255Leu synonymous ADH1B 66 80372 8.21182E-4 40186 0 0.00280166
4-100235047-T-C p.Glu253Glu synonymous ADH1B 5 80436 6.21612E-5 40218 0 6.36983E-5
4-100235049-C-T p.Glu253Lys missense ADH1B 1 80428 1.24335E-5 40214 0 NA
4-100235049-C-A p.Glu253* stop_gained ADH1B 3 80428 3.73004E-5 40214 0 5.96744E-5
4-100235053-A-G p.Ile251Ile synonymous ADH1B 65493 79402 0.824828 39701 27075 0.81631
4-100235070-C-T p.Asp246Asn missense ADH1B 1 80524 1.24187E-5 40262 0 8.23737E-6
4-100235093-G-A p.Ala238Val missense ADH1B 1 80766 1.23814E-5 40383 0 3.18573E-5
4-100235097-C-A p.Gly237Cys missense ADH1B 2 80816 2.47476E-5 40408 0 NA
4-100235101-C-T p.Glu235Glu synonymous ADH1B 2 80866 2.47323E-5 40433 0 8.23655E-6
4-100235139-C-G p.Val223Leu missense ADH1B 2 81014 2.46871E-5 40507 0 4.7719E-5
4-100235139-C-T p.Val223Met missense ADH1B 1 81014 1.23435E-5 40507 0 NA
4-100235140-C-A p.Ala222Ala synonymous ADH1B 1692 80264 0.0210804 40132 28 0.0308001
4-100235140-C-T p.Ala222Ala synonymous ADH1B 2 81016 2.46865E-5 40508 0 3.18512E-5
4-100235141-G-A p.Ala222Val missense ADH1B 1 81020 1.23426E-5 40510 0 3.29457E-5
4-100235153-G-T p.Ala218Asp missense ADH1B 1 81050 1.23381E-5 40525 0 NA
4-100235158-T-C p.Gly216Gly synonymous ADH1B 1 81050 1.23381E-5 40525 0 6.25E-4
4-100235167-T-C p.Lys213Lys synonymous ADH1B 4 81060 4.93462E-5 40530 0 3.1839E-5
4-100235169-T-TA p.Lys213fs frameshift ADH1B 1 81052 1.23378E-5 40526 0 NA
4-100235171-C-T p.Cys212Tyr missense ADH1B 1 81046 1.23387E-5 40523 0 NA
4-100235181-C-T p.Val209Ile missense ADH1B 2 81022 2.46847E-5 40511 0 5.9654E-5
4-100235183-G-A p.Ala208Val missense ADH1B 6 81026 7.40503E-5 40513 0 5.03525E-4
4-100235188-T-G p.Leu206Leu synonymous ADH1B 2 81006 2.46895E-5 40503 0 7.9538E-5
4-100235194-G-A p.Val204Val synonymous ADH1B 724 80944 0.00894446 40472 11 0.0197808
4-100235197-C-T p.Gly203Gly synonymous ADH1B 1 80974 1.23496E-5 40487 0 NA
4-100235199-C-T p.Gly203Arg missense ADH1B 1 80970 1.23503E-5 40485 0 1.91071E-4
4-100235222-G-A p.Thr195Ile missense ADH1B 4 80696 4.95688E-5 40348 0 4.38045E-5
4-100235227-G-C p.Gly193Gly synonymous ADH1B 4 80510 4.96833E-5 40255 0 NA
4-100235232-G-A p.Pro192Ser missense ADH1B 1 80274 1.24573E-5 40137 0 8.28212E-6
4-100237049-TC-T c.567+5delG splice_region ADH1B 6 80936 7.41327E-5 40468 0 3.18431E-5
4-100237050-C-A c.567+5G>T splice_region ADH1B 1 80940 1.23548E-5 40470 0 NA
4-100237052-C-CT c.567+2_567+3insA splice_donor ADH1B 6 80950 7.41198E-5 40475 0 3.18329E-5
4-100237062-A-T p.Val187Asp missense ADH1B 1 80982 1.23484E-5 40491 0 NA
4-100237063-C-T p.Val187Ile missense ADH1B 4 80976 4.93974E-5 40488 0 0.00100705
4-100237064-G-T p.Asn186Lys missense ADH1B 6 80982 7.40905E-5 40491 0 3.1841E-5
4-100237064-G-A p.Asn186Asn synonymous ADH1B 6 80980 7.40924E-5 40490 0 3.58055E-5
4-100237067-A-G p.Val185Val synonymous ADH1B 6 80988 7.40851E-5 40494 0 3.1839E-5
4-100237080-T-A p.Tyr181Phe missense ADH1B 1 81010 1.23442E-5 40505 0 1.59079E-5
4-100237088-C-T p.Ser178Ser synonymous ADH1B 27 81008 3.333E-4 40504 0 2.5535E-4
4-100237089-G-A p.Ser178Leu missense ADH1B 4 81000 4.93827E-5 40500 0 0.00125
4-100237091-G-A p.Phe177Phe synonymous ADH1B 2 81000 2.46914E-5 40500 0 3.29484E-5
4-100237098-C-T p.Cys175Tyr missense ADH1B 1 80998 1.2346E-5 40499 0 3.18471E-5
4-100237104-A-G p.Ile173Thr missense ADH1B 2 80996 2.46926E-5 40498 0 1.8121E-4
4-100237105-T-A p.Ile173Phe missense ADH1B 2 80998 2.4692E-5 40499 0 3.1841E-5
4-100237105-T-G p.Ile173Leu missense ADH1B 1 80998 1.2346E-5 40499 0 9.88419E-5
4-100237105-T-C p.Ile173Val missense ADH1B 1 80998 1.2346E-5 40499 0 1.64737E-5
4-100237106-G-A p.Leu172Leu synonymous ADH1B 1 80998 1.2346E-5 40499 0 NA
4-100237120-C-T p.Glu168Lys missense ADH1B 1 80996 1.23463E-5 40498 0 NA
4-100237127-C-T p.Ser165Ser synonymous ADH1B 126 80988 0.00155579 40494 1 0.00463751
4-100237139-A-G p.Ile161Ile synonymous ADH1B 5 80982 6.17421E-5 40491 0 1.15317E-4
4-100237140-A-G p.Ile161Thr missense ADH1B 2 80978 2.46981E-5 40489 0 3.18471E-5
4-100237149-A-G p.Val158Ala missense ADH1B 1 80960 1.23518E-5 40480 0 NA
4-100237154-A-G p.Asn156Asn synonymous ADH1B 2 80968 2.47011E-5 40484 0 3.97757E-6
4-100237169-C-T p.Thr151Thr synonymous ADH1B 86 80952 0.00106236 40476 0 0.00222859
4-100237174-A-G p.Tyr150His missense ADH1B 2 80954 2.47054E-5 40477 0 8.23737E-6
4-100237179-G-A p.Ser148Phe missense ADH1B 1 80942 1.23545E-5 40471 0 NA
4-100237198-G-A p.Leu142Phe missense ADH1B 1 80946 1.23539E-5 40473 0 NA
4-100237199-G-A p.Phe141Phe synonymous ADH1B 1 80942 1.23545E-5 40471 0 9.55353E-5
4-100237205-G-A p.His139His synonymous ADH1B 4 80940 4.94193E-5 40470 0 8.23791E-6
4-100237209-A-G p.Ile138Thr missense ADH1B 4 80936 4.94218E-5 40468 0 6.36821E-5
4-100237220-C-T p.Arg134Arg synonymous ADH1B 6 80936 7.41327E-5 40468 0 9.55536E-5
4-100237222-T-C p.Arg134Gly missense ADH1B 1 80918 1.23582E-5 40459 0 NA
4-100237223-G-A p.Cys133Cys synonymous ADH1B 2 80920 2.47158E-5 40460 0 2.47182E-5
4-100237246-C-A p.Asp126Tyr missense ADH1B 1 80940 1.23548E-5 40470 0 3.98013E-6
4-100237256-C-A p.Gly122Gly synonymous ADH1B 5 80940 6.17742E-5 40470 0 1.56618E-4
4-100237260-C-G p.Arg121Pro missense ADH1B 1 80932 1.23561E-5 40466 0 5.03525E-4
4-100237260-C-T p.Arg121Gln missense ADH1B 5 80932 6.17803E-5 40466 0 3.29761E-5
4-100237282-G-C c.348-8C>G splice_region ADH1B 2 80948 2.47072E-5 40474 0 4.12167E-5
4-100237381-A-C p.Leu113Trp missense ADH1B 1 81030 1.23411E-5 40515 0 7.95513E-6
4-100237384-C-T p.Cys112Tyr missense ADH1B 1 81026 1.23417E-5 40513 0 3.18532E-5
4-100237393-C-A p.Ser109Ile missense ADH1B 3 81008 3.70334E-5 40504 0 2.38637E-5
4-100237395-C-G p.Glu108Asp missense ADH1B 2 81010 2.46883E-5 40505 0 6.25E-4
4-100237399-G-A p.Pro107Leu missense ADH1B 7 81002 8.64176E-5 40501 0 3.57978E-5
4-100237400-G-C p.Pro107Ala missense ADH1B 3 80998 3.7038E-5 40499 0 6.36355E-5
4-100237401-GTTTTTACAAACTCTGCATT-G p.Lys100fs frameshift ADH1B 1 81000 1.23457E-5 40500 0 NA
4-100237403-T-G p.Asn106His missense ADH1B 1 81000 1.23457E-5 40500 0 NA
4-100237406-T-C p.Lys105Glu missense ADH1B 1 81000 1.23457E-5 40500 0 3.18451E-5
4-100237407-A-G p.Cys104Cys synonymous ADH1B 1 80996 1.23463E-5 40498 0 NA
4-100237417-C-A p.Cys101Phe missense ADH1B 3 80980 3.70462E-5 40490 0 8.24498E-6
4-100237429-T-G p.Gln97Pro missense ADH1B 1 80954 1.23527E-5 40477 0 3.97829E-6
4-100237433-G-C p.Pro96Ala missense ADH1B 3 80946 3.70617E-5 40473 0 7.95722E-6
4-100237433-G-A p.Pro96Ser missense ADH1B 4 80946 4.94157E-5 40473 0 8.24933E-6
4-100237438-A-T p.Phe94Tyr missense ADH1B 1 80944 1.23542E-5 40472 0 5.04032E-4
4-100237440-G-C p.Leu93Leu synonymous ADH1B 1 80938 1.23551E-5 40469 0 8.25737E-6
4-100237443-C-T p.Pro92Pro synonymous ADH1B 1 80914 1.23588E-5 40457 0 1.07376E-4
4-100237444-G-A p.Pro92Leu missense ADH1B 1 80910 1.23594E-5 40455 0 1.19398E-5
4-100237445-G-A p.Pro92Ser missense ADH1B 9 80908 1.11237E-4 40454 0 3.18552E-5
4-100237457-C-T p.Asp88Asn missense+splice_region ADH1B 1 80890 1.23625E-5 40445 0 NA
4-100237463-G-C c.260-4C>G splice_region ADH1B 3 80882 3.70911E-5 40441 0 8.36009E-5
4-100239205-G-C p.Pro86Arg missense+splice_region ADH1B 1 81026 1.23417E-5 40513 0 0.00125156
4-100239210-G-A p.Val84Val synonymous ADH1B 1 81032 1.23408E-5 40516 0 3.18573E-5
4-100239220-AC-A p.Val81fs frameshift ADH1B 3 81030 3.70233E-5 40515 0 8.23845E-6
4-100239224-CT-C p.Val81fs frameshift ADH1B 2 81046 2.46773E-5 40523 1 NA
4-100239227-C-T p.Glu79Lys missense ADH1B 1 81052 1.23378E-5 40526 0 2.47125E-5
4-100239231-A-G p.Val77Val synonymous ADH1B 1 81046 1.23387E-5 40523 0 3.18918E-5
4-100239236-T-G p.Ser76Arg missense ADH1B 1 81048 1.23384E-5 40524 0 NA
4-100239242-C-T p.Val74Met missense ADH1B 1 81042 1.23393E-5 40521 0 1.19326E-5
4-100239242-C-CAGT p.Ile73_Val74insThr conservative_inframe_insertion ADH1B 1 81042 1.23393E-5 40521 0 NA
4-100239244-A-AC p.Ile73fs frameshift ADH1B 1 81048 1.23384E-5 40524 0 NA
4-100239246-G-GTATCACATCAT p.Ile73fs frameshift ADH1B 1 81046 1.23387E-5 40523 0 NA
4-100239248-C-T p.Gly72Ser missense ADH1B 3 81050 3.70142E-5 40525 0 1.9888E-5
4-100239249-G-A p.Ala71Ala synonymous ADH1B 1 81044 1.2339E-5 40522 0 1.64742E-5
4-100239249-G-C p.Ala71Ala synonymous ADH1B 1 81044 1.2339E-5 40522 0 NA
4-100239251-C-T p.Ala71Thr missense ADH1B 1 81046 1.23387E-5 40523 0 NA
4-100239253-G-A p.Ala70Val missense ADH1B 1 81046 1.23387E-5 40523 0 2.78443E-5
4-100239253-G-T p.Ala70Glu missense ADH1B 1 81046 1.23387E-5 40523 0 NA
4-100239261-G-A p.Gly67Gly synonymous ADH1B 1 81042 1.23393E-5 40521 0 NA
4-100239268-A-G p.Ile65Thr missense ADH1B 217 81038 0.00267776 40519 1 0.00446087
4-100239273-AG-A p.Pro63fs frameshift ADH1B 5 81040 6.16979E-5 40520 0 3.18654E-5
4-100239273-A-G p.Pro63Pro synonymous ADH1B 1 81040 1.23396E-5 40520 0 3.18654E-5
4-100239282-G-T p.Thr60Thr synonymous ADH1B 1 81034 1.23405E-5 40517 0 NA
4-100239284-T-A p.Thr60Ser missense ADH1B 429 81016 0.00529525 40508 3 0.0100705
4-100239289-A-G p.Leu58Pro missense ADH1B 2 81028 2.46828E-5 40514 0 NA
4-100239306-G-A p.His52His synonymous ADH1B 1 81020 1.23426E-5 40510 0 NA
4-100239319-T-C p.His48Arg missense ADH1B 72655 79616 0.912568 39808 33696 0.939245
4-100239319-TG-CA p.His48Cys missense ADH1B 4 81010 4.93766E-5 40505 0 NA
4-100239319-T-G p.His48Pro missense ADH1B 2 81010 2.46883E-5 40505 0 NA
4-100239319-T-A p.His48Leu missense ADH1B 1 81010 1.23442E-5 40505 0 NA
4-100239320-G-A p.His48Tyr missense ADH1B 22 81006 2.71585E-4 40503 0 1.6475E-4
4-100239320-G-T p.His48Asn missense ADH1B 1 81006 1.23448E-5 40503 0 3.18532E-5
4-100239343-T-C c.121-2A>G splice_acceptor ADH1B 1 80956 1.23524E-5 40478 0 NA
4-100239344-A-G c.121-3T>C splice_region ADH1B 252 80952 0.00311296 40476 3 0.00710055
4-100239949-C-T p.Arg38His missense ADH1B 2 80120 2.49626E-5 40060 0 3.18735E-5
4-100239950-G-A p.Arg38Cys missense ADH1B 1 80184 1.24713E-5 40092 0 1.65325E-5
4-100239950-G-T p.Arg38Ser missense ADH1B 1 80184 1.24713E-5 40092 0 NA
4-100239961-G-A p.Ala34Val missense ADH1B 14 80492 1.7393E-4 40246 0 1.15552E-4
4-100239971-G-T p.Pro31Thr missense ADH1B 4 80572 4.9645E-5 40286 0 1.07521E-4
4-100239986-C-G p.Asp26His missense ADH1B 1 80700 1.23916E-5 40350 0 3.98048E-6
4-100239989-C-T p.Glu25Lys missense ADH1B 1 80720 1.23885E-5 40360 0 NA
4-100239996-A-G p.Phe22Phe synonymous ADH1B 1 80746 1.23845E-5 40373 0 7.95976E-6
4-100239998-A-G p.Phe22Leu missense ADH1B 1 80752 1.23836E-5 40376 0 NA
4-100240000-G-C p.Pro21Arg missense ADH1B 1 80758 1.23827E-5 40379 0 NA
4-100240002-T-C p.Lys20Lys synonymous ADH1B 2861 80670 0.0354655 40335 68 0.044639
4-100240016-A-G p.Trp16Arg missense ADH1B 165 80802 0.00204203 40401 4 0.00468123
4-100240018-A-G p.Leu15Pro missense ADH1B 2 80814 2.47482E-5 40407 0 8.24076E-6
4-100240050-A-G c.19-7T>C splice_region ADH1B 4 80822 4.94915E-5 40411 0 1.27397E-4
4-100242072-C-T c.19-1G>A splice_acceptor ADH1B 9 34574 2.60311E-4 17287 0 3.50542E-4
4-100242460-TTTTTG-T c.18+6_18+10delCAAAA splice_region ADH1B 2 80656 2.47967E-5 40328 0 2.47737E-5
4-100242467-T-TCA c.18+3_18+4insTG splice_region ADH1B 2 80706 2.47813E-5 40353 0 2.47688E-5
4-100242468-T-TCAATATAAC c.18+2_18+3insGTTATATTG splice_donor ADH1B 2 80702 2.47825E-5 40351 0 2.47656E-5
4-100242473-T-A p.Lys6* stop_gained ADH1B 1 80742 1.23851E-5 40371 0 NA
4-100242478-G-A p.Ala4Val missense ADH1B 2 80742 2.47703E-5 40371 0 NA
4-100242481-G-A p.Thr3Ile missense ADH1B 2 80754 2.47666E-5 40377 0 8.25014E-6
4-100242515-G-A c.-27C>T 5_prime_UTR_premature_start_codon_gain ADH1B 1 80714 1.23894E-5 40357 0 NA