Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-40547529-C-G c.-137C>G 5_prime_UTR_premature_start_codon_gain ZNF620 1 15630 6.39795E-5 7815 0 NA
3-40547567-C-T c.-112C>T 5_prime_UTR_premature_start_codon_gain ZNF620 2 25254 7.91954E-5 12627 0 2.22973E-4
3-40547598-C-T c.-81C>T 5_prime_UTR_premature_start_codon_gain ZNF620 1 39492 2.53216E-5 19746 0 NA
3-40547620-C-T c.-59C>T 5_prime_UTR_premature_start_codon_gain ZNF620 1 50420 1.98334E-5 25210 0 NA
3-40547631-T-C c.-50+2T>C splice_donor ZNF620 1 54864 1.82269E-5 27432 0 NA
3-40547634-CTGAT-C c.-50+6_-50+9delTGAT splice_region ZNF620 1 56858 1.75877E-5 28429 0 NA
3-40547805-C-G c.-39C>G 5_prime_UTR_premature_start_codon_gain ZNF620 3 79568 3.77036E-5 39784 0 1.66984E-5
3-40547853-A-G p.Thr4Ala missense ZNF620 10 79502 1.25783E-4 39751 0 3.63262E-4
3-40547866-A-G p.Gln8Arg missense+splice_region ZNF620 8 79194 1.01018E-4 39597 0 NA
3-40550141-C-T c.25-6C>T splice_region ZNF620 2 50866 3.9319E-5 25433 0 0.00734951
3-40550142-C-T c.25-5C>T splice_region ZNF620 1 50924 1.96371E-5 25462 0 0.00331426
3-40550149-A-G p.Arg9Arg splice_region+synonymous ZNF620 5 51268 9.75267E-5 25634 0 1.31372E-4
3-40550181-G-A p.Ser20Asn missense ZNF620 1 51766 1.93177E-5 25883 0 7.49165E-6
3-40550202-G-T p.Cys27Phe missense ZNF620 2 51826 3.85907E-5 25913 0 3.20513E-5
3-40550203-C-T p.Cys27Cys synonymous ZNF620 2 51822 3.85936E-5 25911 0 2.46711E-4
3-40550231-C-G p.Pro37Ala missense ZNF620 3 51898 5.78057E-5 25949 0 NA
3-40550264-A-G c.*7A>G splice_region ZNF620 1 51922 1.92597E-5 25961 0 NA
3-40550268-A-G c.*8+3A>G splice_region ZNF620 1 51922 1.92597E-5 25961 0 NA
3-40552964-C-T p.Pro10Ser missense ZNF620 265 81120 0.00326677 40560 9 0.00207436
3-40552989-T-G p.Val18Gly missense ZNF620 2 81124 2.46536E-5 40562 0 NA
3-40552993-C-A p.Tyr19* stop_gained ZNF620 1 81124 1.23268E-5 40562 0 NA
3-40552994-T-C p.Phe20Leu missense ZNF620 2 81124 2.46536E-5 40562 0 6.37349E-5
3-40552997-A-AC p.Gln22fs frameshift ZNF620 5 81120 6.16371E-5 40560 0 1.59076E-5
3-40553003-A-G p.Asn23Asp missense ZNF620 1 81120 1.23274E-5 40560 0 8.2375E-6
3-40553013-C-T p.Ala26Val missense ZNF620 1 81116 1.2328E-5 40558 0 2.38635E-5
3-40553022-A-T p.Asp29Val missense ZNF620 1 81114 1.23283E-5 40557 0 8.23696E-6
3-40553028-T-A p.Val31Glu missense ZNF620 4 81114 4.93133E-5 40557 0 1.59276E-4
3-40553037-C-A p.Ala34Asp missense ZNF620 4 81116 4.93121E-5 40558 0 NA
3-40553045-AG-A p.Glu38fs frameshift ZNF620 3 81118 3.69832E-5 40559 0 1.64742E-5
3-40553045-A-G p.Arg37Gly missense ZNF620 2 81116 2.4656E-5 40558 0 6.25E-4
3-40553045-AGG-A p.Glu38fs frameshift ZNF620 1 81118 1.23277E-5 40559 0 NA
3-40553060-G-C p.Glu42Gln missense ZNF620 2 81114 2.46567E-5 40557 0 NA
3-40553068-T-C p.Tyr44Tyr synonymous ZNF620 2 81116 2.4656E-5 40558 0 2.47109E-5
3-40553079-C-A p.Ala48Asp missense ZNF620 1 81110 1.23289E-5 40555 0 NA
3-40553079-C-T p.Ala48Val missense ZNF620 1 81110 1.23289E-5 40555 0 NA
3-40553092-G-C c.151+5G>C splice_region ZNF620 1 81106 1.23295E-5 40553 0 NA
3-40553886-T-G c.152-7T>G splice_region ZNF620 1 80710 1.239E-5 40355 0 NA
3-40553905-C-T p.Thr55Ile missense ZNF620 25 80830 3.09291E-4 40415 0 1.67087E-4
3-40553908-C-T p.Thr56Met missense ZNF620 5 80838 6.18521E-5 40419 0 1.07959E-4
3-40553909-G-A p.Thr56Thr synonymous ZNF620 4 80818 4.94939E-5 40409 0 2.49124E-5
3-40553919-GT-G p.Val60fs frameshift ZNF620 2 80868 2.47317E-5 40434 0 NA
3-40553934-C-G p.Gln65Glu missense ZNF620 1 80902 1.23606E-5 40451 0 NA
3-40553936-A-G p.Gln65Gln synonymous ZNF620 1 80900 1.23609E-5 40450 0 6.36862E-5
3-40553936-A-AG p.Glu67fs frameshift ZNF620 1 80900 1.23609E-5 40450 0 8.28981E-6
3-40553943-C-T p.Leu68Leu synonymous ZNF620 1 80892 1.23622E-5 40446 0 NA
3-40553949-TG-T p.Gly71fs frameshift ZNF620 2 80908 2.47194E-5 40454 0 NA
3-40553955-C-T p.Leu72Phe missense ZNF620 112 80902 0.00138439 40451 1 0.00194266
3-40553958-G-A p.Asp73Asn missense ZNF620 29 80900 3.58467E-4 40450 1 5.73175E-4
3-40553959-A-T p.Asp73Val missense ZNF620 1 80896 1.23616E-5 40448 0 7.96324E-6
3-40553962-C-T p.Pro74Leu missense ZNF620 8 80876 9.89169E-5 40438 0 3.34734E-5
3-40553963-C-T c.*206C>T splice_region ZNF620 1 80878 1.23643E-5 40439 0 3.98371E-6
3-40553973-A-G p.Met78Val missense ZNF620 2 80878 2.47286E-5 40439 0 6.36821E-5
3-40553977-G-C p.Gly79Ala missense ZNF620 14 80866 1.73126E-4 40433 0 1.27348E-4
3-40553981-G-A p.Arg80Arg synonymous ZNF620 21 80850 2.5974E-4 40425 0 0.0020141
3-40553982-G-T p.Glu81* stop_gained ZNF620 2 80848 2.47378E-5 40424 0 NA
3-40553984-G-C p.Glu81Asp missense ZNF620 24 80836 2.96897E-4 40418 0 6.68662E-4
3-40553986-C-T p.Ala82Val missense ZNF620 2 80812 2.47488E-5 40406 0 NA
3-40553988-C-T p.Leu83Phe missense ZNF620 1 80804 1.23756E-5 40402 0 2.60652E-5
3-40553995-G-T p.Gly85Val missense ZNF620 1 80782 1.2379E-5 40391 0 2.66071E-5
3-40554009-G-A c.265+3G>A splice_region ZNF620 1 80716 1.23891E-5 40358 0 NA
3-40554013-A-G c.265+7A>G splice_region ZNF620 6 80696 7.43531E-5 40348 0 6.36902E-5
3-40557351-G-C p.Gly89Ala missense+splice_region ZNF620 3 80976 3.7048E-5 40488 0 8.71688E-6
3-40557378-G-A p.Gly98Glu missense ZNF620 1 81074 1.23344E-5 40537 0 1.66506E-5
3-40557384-C-G p.Thr100Ser missense ZNF620 1 81090 1.2332E-5 40545 0 3.99735E-6
3-40557398-G-A p.Val105Met missense ZNF620 3 81094 3.69941E-5 40547 0 3.30235E-5
3-40557404-A-C p.Lys107Gln missense ZNF620 1 81088 1.23323E-5 40544 0 NA
3-40557438-G-A p.Gly118Asp missense ZNF620 37 81056 4.56475E-4 40528 0 0.00251762
3-40557440-CTGCCAGGGAATGTT-C p.Gly121fs frameshift ZNF620 1 81068 1.23353E-5 40534 0 NA
3-40557443-C-A p.Pro120Thr missense ZNF620 1921 81030 0.0237073 40515 49 0.0330763
3-40557453-T-C p.Val123Ala missense ZNF620 1 81052 1.23378E-5 40526 0 NA
3-40557455-T-G p.Ser124Ala missense ZNF620 1 81048 1.23384E-5 40524 0 NA
3-40557496-A-G p.Gln137Gln synonymous ZNF620 1 81024 1.2342E-5 40512 0 NA
3-40557498-G-C p.Gly138Ala missense ZNF620 1 81020 1.23426E-5 40510 0 5.96806E-5
3-40557524-A-G p.Lys147Glu missense ZNF620 1 81006 1.23448E-5 40503 0 NA
3-40557534-A-G p.His150Arg missense ZNF620 4 80988 4.939E-5 40494 0 8.2765E-6
3-40557540-C-A p.Thr152Lys missense ZNF620 1 80976 1.23493E-5 40488 0 NA
3-40557545-AC-A p.Ser155fs frameshift ZNF620 1 80950 1.23533E-5 40475 0 NA
3-40557547-C-T p.Thr154Thr synonymous ZNF620 9 80946 1.11185E-4 40473 0 5.03525E-4
3-40557559-C-T p.His158His synonymous ZNF620 1 80904 1.23603E-5 40452 0 NA
3-40557562-T-C p.His159His synonymous ZNF620 2 80902 2.47213E-5 40451 0 6.37064E-5
3-40557572-G-A p.Glu163Lys missense ZNF620 2 80852 2.47366E-5 40426 0 3.98168E-6
3-40557578-AAGAATGGAG-A p.Asn166_Glu168del disruptive_inframe_deletion ZNF620 1 80826 1.23723E-5 40413 0 3.31879E-5
3-40557602-T-C p.Leu173Leu synonymous ZNF620 2 80674 2.47911E-5 40337 0 6.38529E-5
3-40557619-C-T p.Ser178Ser synonymous ZNF620 8 80508 9.9369E-5 40254 0 8.64563E-4
3-40557620-G-A p.Val179Ile missense ZNF620 1 80488 1.24242E-5 40244 0 7.18609E-5
3-40557665-A-G p.Ile194Val missense ZNF620 1 80192 1.24701E-5 40096 0 NA
3-40557680-G-A p.Gly199Arg missense ZNF620 1 80108 1.24831E-5 40054 0 1.6629E-5
3-40557686-T-C p.Cys201Arg missense ZNF620 15 80018 1.87458E-4 40009 0 5.03525E-4
3-40557689-G-A p.Gly202Ser missense ZNF620 1 79992 1.25013E-5 39996 0 NA
3-40557698-T-G p.Phe205Val missense ZNF620 1 79856 1.25225E-5 39928 0 8.31504E-6
3-40557706-A-G p.Gln207Gln synonymous ZNF620 1 79716 1.25445E-5 39858 0 NA
3-40557721-C-T p.His212His synonymous ZNF620 3 79442 3.77634E-5 39721 0 3.1837E-5
3-40557723-G-C p.Arg213Pro missense ZNF620 1 79440 1.25881E-5 39720 0 3.1837E-5
3-40557729-A-C p.Glu215Ala missense ZNF620 1 79440 1.25881E-5 39720 0 NA
3-40557734-T-C p.Cys217Arg missense ZNF620 1 79420 1.25913E-5 39710 0 NA
3-40557769-A-G p.Glu228Glu synonymous ZNF620 1 79954 1.25072E-5 39977 0 3.99639E-6
3-40557771-G-A p.Cys229Tyr missense ZNF620 2 79992 2.50025E-5 39996 0 3.1835E-5
3-40557778-A-G p.Lys231Lys synonymous ZNF620 1 80178 1.24722E-5 40089 0 8.30813E-6
3-40557801-T-G p.Leu239Arg missense ZNF620 8 80602 9.92531E-5 40301 0 1.4106E-4
3-40557807-G-A p.Arg241Gln missense ZNF620 2 80638 2.48022E-5 40319 0 5.03525E-4
3-40557824-A-G p.Thr247Ala missense ZNF620 1 80790 1.23778E-5 40395 0 7.96451E-6
3-40557848-A-C p.Lys255Gln missense ZNF620 2 80900 2.47219E-5 40450 0 NA
3-40557848-A-G p.Lys255Glu missense ZNF620 1 80900 1.23609E-5 40450 0 NA
3-40557853-A-G p.Glu256Glu synonymous ZNF620 7 80924 8.65009E-5 40462 0 2.48045E-5
3-40557862-A-G p.Lys259Lys synonymous ZNF620 1 80948 1.23536E-5 40474 0 NA
3-40557883-C-T p.Ala266Ala synonymous ZNF620 1 80956 1.23524E-5 40478 0 1.65115E-5
3-40557891-A-T p.Gln269Leu missense ZNF620 13 80962 1.60569E-4 40481 0 3.82068E-4
3-40557913-A-T p.Gly276Gly synonymous ZNF620 5 80954 6.17635E-5 40477 0 3.97877E-6
3-40557919-G-C p.Lys278Asn missense ZNF620 1 80968 1.23506E-5 40484 0 NA
3-40557929-T-C p.Cys282Arg missense ZNF620 3 80982 3.70453E-5 40491 0 7.95526E-6
3-40557933-A-C p.Lys283Thr missense ZNF620 31 80982 3.82801E-4 40491 0 4.1229E-5
3-40557940-C-T p.Cys285Cys synonymous ZNF620 188 80966 0.00232196 40483 1 0.00503525
3-40557951-T-G p.Phe289Cys missense ZNF620 1 80962 1.23515E-5 40481 0 NA
3-40557954-G-C p.Ser290Thr missense ZNF620 2 80956 2.47048E-5 40478 0 1.98916E-5
3-40557964-T-C p.Ser293Ser synonymous ZNF620 1 80944 1.23542E-5 40472 0 3.97855E-6
3-40557984-G-A p.Arg300Lys missense ZNF620 1 80970 1.23503E-5 40485 0 NA
3-40557992-A-G p.Thr303Ala missense ZNF620 3 80956 3.70572E-5 40478 0 8.24212E-6
3-40557997-G-A p.Gly304Gly synonymous ZNF620 1 80964 1.23512E-5 40482 0 8.24253E-6
3-40557998-G-C p.Glu305Gln missense ZNF620 2 80966 2.47017E-5 40483 0 1.64832E-5
3-40558004-C-T p.Leu307Phe missense ZNF620 6 80986 7.40869E-5 40493 0 1.59082E-5
3-40558009-T-C p.Tyr308Tyr synonymous ZNF620 21 80994 2.59278E-4 40497 0 2.22944E-4
3-40558013-T-C p.Cys310Arg missense ZNF620 1 80994 1.23466E-5 40497 0 3.97706E-6
3-40558014-G-A p.Cys310Tyr missense ZNF620 1 80994 1.23466E-5 40497 0 2.38641E-5
3-40558018-C-T p.Asn311Asn synonymous ZNF620 4 80998 4.93839E-5 40499 0 3.18756E-5
3-40558018-C-A p.Asn311Lys missense ZNF620 1 80998 1.2346E-5 40499 0 8.24076E-6
3-40558019-G-A p.Glu312Lys missense ZNF620 7 81006 8.64134E-5 40503 0 5.03525E-4
3-40558025-T-C p.Trp314Arg missense ZNF620 2 81018 2.46859E-5 40509 0 1.6481E-5
3-40558036-C-G p.Phe317Leu missense ZNF620 2 81014 2.46871E-5 40507 0 2.47194E-5
3-40558047-C-CA p.Ser322fs frameshift ZNF620 2 81032 2.46816E-5 40516 0 4.11984E-5
3-40558048-A-G p.Ser321Ser synonymous ZNF620 1 81034 1.23405E-5 40517 0 8.24022E-6
3-40558049-A-G p.Ser322Gly missense ZNF620 2 81032 2.46816E-5 40516 0 5.03525E-4
3-40558062-A-G p.His326Arg missense ZNF620 1 81044 1.2339E-5 40522 0 NA
3-40558067-C-T p.Arg328* stop_gained ZNF620 3 81040 3.70188E-5 40520 0 2.4717E-5
3-40558084-GA-G p.Lys334fs frameshift ZNF620 1 81036 1.23402E-5 40518 0 3.57898E-5
3-40558087-AC-A p.Pro335fs frameshift ZNF620 2 81034 2.4681E-5 40517 0 NA
3-40558087-A-G p.Lys334Lys synonymous ZNF620 1 81034 1.23405E-5 40517 0 NA
3-40558088-C-T p.Pro335Ser missense ZNF620 24 81036 2.96165E-4 40518 0 6.04941E-4
3-40558101-A-C p.Lys339Thr missense ZNF620 3 81036 3.70206E-5 40518 0 3.1839E-5
3-40558126-C-G p.Ser347Ser synonymous ZNF620 1 81050 1.23381E-5 40525 0 7.95406E-6
3-40558142-C-G p.Gln353Glu missense ZNF620 1 81052 1.23378E-5 40526 0 2.4717E-5
3-40558145-C-A p.His354Asn missense ZNF620 1 81056 1.23371E-5 40528 0 7.95349E-6
3-40558150-G-C p.Gln355His missense ZNF620 2888 80986 0.0356605 40493 62 0.055
3-40558151-C-T p.Arg356* stop_gained ZNF620 4 81048 4.93535E-5 40524 0 6.38244E-5
3-40558152-G-A p.Arg356Gln missense ZNF620 2 81052 2.46755E-5 40526 0 6.3678E-5
3-40558153-A-G p.Arg356Arg synonymous ZNF620 2 81050 2.46761E-5 40525 0 NA
3-40558160-A-G p.Thr359Ala missense ZNF620 2 81050 2.46761E-5 40525 0 NA
3-40558172-C-A p.Pro363Thr missense ZNF620 1 81048 1.23384E-5 40524 0 8.23968E-6
3-40558183-T-A p.Cys366* stop_gained ZNF620 1 81028 1.23414E-5 40514 0 NA
3-40558199-GCATT-G p.Phe373fs frameshift ZNF620 1 81016 1.23432E-5 40508 0 8.24443E-6
3-40558201-A-G p.Ala372Ala synonymous ZNF620 1 81010 1.23442E-5 40505 0 NA
3-40558205-A-G p.Asn374Asp missense ZNF620 2 81002 2.46907E-5 40501 0 NA
3-40558208-C-G p.Gln375Glu missense ZNF620 1 80990 1.23472E-5 40495 0 NA
3-40558217-A-C p.Thr378Pro missense ZNF620 1 80980 1.23487E-5 40490 0 NA
3-40558219-C-T p.Thr378Thr synonymous ZNF620 2 80970 2.47005E-5 40485 0 3.97728E-6
3-40558220-C-T p.Leu379Leu synonymous ZNF620 1 80962 1.23515E-5 40481 0 8.25055E-6
3-40558232-C-T p.Gln383* stop_gained ZNF620 1 80928 1.23567E-5 40464 0 NA
3-40558249-C-T p.Gly388Gly synonymous ZNF620 8 80864 9.89315E-5 40432 0 3.18552E-4
3-40558250-G-A p.Glu389Lys missense ZNF620 1 80862 1.23667E-5 40431 0 NA
3-40558260-A-G p.Tyr392Cys missense ZNF620 1 80782 1.2379E-5 40391 0 8.27472E-6
3-40558262-G-A p.Glu393Lys missense ZNF620 1 80754 1.23833E-5 40377 0 3.18471E-5
3-40558264-G-C p.Glu393Asp missense ZNF620 1 80734 1.23864E-5 40367 0 NA
3-40558276-T-C p.Cys397Cys synonymous ZNF620 1 80598 1.24073E-5 40299 0 NA
3-40558279-T-TA p.Thr400fs frameshift ZNF620 1 80556 1.24137E-5 40278 0 3.98575E-6
3-40558281-A-C p.Lys399Thr missense ZNF620 1 80526 1.24183E-5 40263 0 NA
3-40558303-A-AT p.Ile408fs frameshift ZNF620 1 80004 1.24994E-5 40002 0 3.1841E-5
3-40558322-C-G p.Leu413Val missense ZNF620 1 79300 1.26103E-5 39650 0 2.55554E-5
3-40558326-A-C p.His414Pro missense ZNF620 6 79086 7.58668E-5 39543 0 9.55292E-5
3-40558339-A-G p.Thr418Thr synonymous ZNF620 6 78242 7.66852E-5 39121 0 5.95937E-4
3-40558341-C-T p.Pro419Leu missense ZNF620 1 78142 1.27972E-5 39071 0 3.18451E-5