Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-9720883-G-GT p.Thr485fs frameshift ZNF561 1 80716 1.23891E-5 40358 0 8.93447E-6
19-9720889-C-G p.Ser483Thr missense ZNF561 1 80778 1.23796E-5 40389 0 NA
19-9720891-C-A p.Met482Ile missense ZNF561 1 80798 1.23765E-5 40399 0 8.84924E-6
19-9720904-T-C p.Glu478Gly missense ZNF561 67 80854 8.28654E-4 40427 0 7.19986E-4
19-9720909-G-A p.Pro476Pro synonymous ZNF561 1 80876 1.23646E-5 40438 0 5.27418E-5
19-9720937-T-A p.His467Leu missense ZNF561 2 80920 2.47158E-5 40460 0 3.98813E-6
19-9720949-C-T p.Arg463His missense ZNF561 7 80936 8.64881E-5 40468 0 4.97793E-5
19-9720950-G-A p.Arg463Cys missense ZNF561 14 80934 1.7298E-4 40467 0 2.15453E-4
19-9720956-A-G p.Ser461Pro missense ZNF561 2 80958 2.47042E-5 40479 0 NA
19-9720968-C-A p.Ala457Ser missense ZNF561 1 80952 1.2353E-5 40476 0 NA
19-9720988-A-G p.Val450Ala missense ZNF561 1 80978 1.2349E-5 40489 0 NA
19-9720989-C-T p.Val450Ile missense ZNF561 3 80976 3.7048E-5 40488 0 7.41656E-5
19-9721004-C-T p.Gly445Arg missense ZNF561 5 80968 6.17528E-5 40484 0 1.59195E-4
19-9721005-G-A p.Thr444Thr synonymous ZNF561 3 80970 3.70508E-5 40485 0 9.55475E-5
19-9721015-C-T p.Arg441Gln missense ZNF561 1 80988 1.23475E-5 40494 0 2.78463E-5
19-9721016-G-A p.Arg441* stop_gained ZNF561 8 80990 9.87776E-5 40495 0 3.18492E-5
19-9721019-G-A p.Leu440Leu synonymous ZNF561 272 80998 0.00335811 40499 2 0.00646456
19-9721027-T-C p.Asn437Ser missense ZNF561 7 81006 8.64134E-5 40503 0 9.88745E-5
19-9721032-G-A p.Arg435Arg synonymous ZNF561 1 80998 1.2346E-5 40499 0 3.97798E-6
19-9721033-C-T p.Arg435His missense ZNF561 15 80998 1.8519E-4 40499 0 5.28541E-4
19-9721034-G-A p.Arg435Cys missense ZNF561 4 81004 4.93803E-5 40502 0 9.06409E-5
19-9721044-T-C p.Leu431Leu synonymous ZNF561 3 81010 3.70325E-5 40505 0 5.17207E-5
19-9721057-C-T p.Gly427Glu missense ZNF561 1 81010 1.23442E-5 40505 0 3.29717E-5
19-9721060-C-T p.Cys426Tyr missense ZNF561 1 81022 1.23423E-5 40511 0 NA
19-9721064-T-A p.Ile425Leu missense ZNF561 1 81016 1.23432E-5 40508 0 NA
19-9721071-T-C p.Val422Val synonymous ZNF561 1 81022 1.23423E-5 40511 0 3.98362E-6
19-9721089-A-G p.Ser416Ser synonymous ZNF561 1 81022 1.23423E-5 40511 0 1.65025E-5
19-9721092-A-G p.His415His synonymous ZNF561 2 81016 2.46865E-5 40508 0 7.98021E-6
19-9721092-A-AT p.His415fs frameshift ZNF561 6 81016 7.40594E-5 40508 0 3.30049E-5
19-9721114-C-T p.Arg408His missense ZNF561 7 81014 8.64048E-5 40507 0 1.04042E-4
19-9721115-G-A p.Arg408Cys missense ZNF561 1 81018 1.23429E-5 40509 0 3.59781E-5
19-9721117-C-T p.Arg407His missense ZNF561 5 81014 6.17177E-5 40507 0 0.0015873
19-9721118-G-A p.Arg407Cys missense ZNF561 12 81014 1.48123E-4 40507 0 0.0010582
19-9721121-A-G p.Ser406Pro missense ZNF561 2 81014 2.46871E-5 40507 0 NA
19-9721130-T-G p.Ile403Leu missense ZNF561 1 81014 1.23435E-5 40507 0 3.19555E-5
19-9721134-G-C p.Thr401Thr synonymous ZNF561 1 81010 1.23442E-5 40505 0 8.26173E-6
19-9721150-A-G p.Val396Ala missense ZNF561 1 81004 1.23451E-5 40502 0 7.97448E-6
19-9721151-C-G p.Val396Leu missense ZNF561 1 81004 1.23451E-5 40502 0 NA
19-9721158-A-G p.Tyr393Tyr synonymous ZNF561 1 80998 1.2346E-5 40499 0 6.36699E-5
19-9721160-A-T p.Tyr393Asn missense ZNF561 1 81000 1.23457E-5 40500 0 NA
19-9721166-T-C p.Lys391Glu missense ZNF561 1 80992 1.23469E-5 40496 0 8.25287E-6
19-9721176-G-A p.His387His synonymous ZNF561 1 80992 1.23469E-5 40496 0 3.98019E-6
19-9721187-T-C p.Thr384Ala missense ZNF561 1 80984 1.23481E-5 40492 0 3.97988E-6
19-9721195-A-G p.Ile381Thr missense ZNF561 1 80992 1.23469E-5 40496 0 5.28541E-4
19-9721205-T-C p.Thr378Ala missense ZNF561 1 80984 1.23481E-5 40492 0 NA
19-9721207-G-A p.Ser377Phe missense ZNF561 2 80984 2.46962E-5 40492 0 3.97985E-5
19-9721208-A-G p.Ser377Pro missense ZNF561 2 80984 2.46962E-5 40492 0 6.36902E-5
19-9721211-T-C p.Thr376Ala missense ZNF561 2 80980 2.46975E-5 40490 0 6.36862E-5
19-9721218-G-A p.Ala373Ala synonymous ZNF561 129 80956 0.00159346 40478 2 0.00211416
19-9721219-G-C p.Ala373Gly missense ZNF561 1 80960 1.23518E-5 40480 0 NA
19-9721240-T-G p.Gln366Pro missense ZNF561 4 80966 4.94035E-5 40483 0 2.88746E-4
19-9721244-A-T p.Tyr365Asn missense ZNF561 2 80960 2.47036E-5 40480 0 1.99477E-5
19-9721245-G-A p.Pro364Pro synonymous ZNF561 2 80960 2.47036E-5 40480 0 NA
19-9721248-T-C p.Lys363Lys synonymous ZNF561 1 80950 1.23533E-5 40475 0 0.0015873
19-9721254-T-TC p.Lys363fs frameshift ZNF561 1 80958 1.23521E-5 40479 0 NA
19-9721267-C-T p.Arg357Gln missense ZNF561 1 80952 1.2353E-5 40476 0 3.19509E-5
19-9721268-G-T p.Arg357Arg synonymous ZNF561 1 80956 1.23524E-5 40478 0 NA
19-9721268-G-A p.Arg357* stop_gained ZNF561 1 80956 1.23524E-5 40478 0 3.18552E-5
19-9721287-C-G p.Ser350Ser synonymous ZNF561 1 80966 1.23509E-5 40483 0 7.97334E-6
19-9721288-G-A p.Ser350Leu missense ZNF561 12 80950 1.4824E-4 40475 0 9.55231E-5
19-9721291-T-C p.Tyr349Cys missense ZNF561 1 80954 1.23527E-5 40477 0 6.36902E-5
19-9721295-G-C p.Gln348Glu missense ZNF561 2 80954 2.47054E-5 40477 0 4.77985E-5
19-9721298-CA-TG p.PheAla346PheThr missense ZNF561 1 80962 1.23515E-5 40481 0 NA
19-9721302-G-C p.Ala345Ala synonymous ZNF561 1 80956 1.23524E-5 40478 0 8.24647E-6
19-9721303-G-A p.Ala345Val missense ZNF561 2 80952 2.4706E-5 40476 0 NA
19-9721306-T-A p.Gln344Leu missense ZNF561 1 80954 1.23527E-5 40477 0 3.18471E-5
19-9721311-A-G p.Cys342Cys synonymous ZNF561 1 80956 1.23524E-5 40478 0 NA
19-9721323-TTCA-T p.Tyr337_Glu338delinsTer stop_gained ZNF561 1 80962 1.23515E-5 40481 0 8.24063E-6
19-9721327-T-C p.Tyr337Cys missense ZNF561 1 80974 1.23496E-5 40487 0 3.18532E-5
19-9721351-C-T p.Arg329Lys missense ZNF561 8 80996 9.87703E-5 40498 0 1.40051E-4
19-9721372-G-C p.Thr322Ser missense ZNF561 4 81002 4.93815E-5 40501 0 1.07088E-4
19-9721381-G-T p.Thr319Asn missense ZNF561 1 81002 1.23454E-5 40501 0 NA
19-9721383-G-A p.Phe318Phe synonymous ZNF561 157 80996 0.00193837 40498 1 0.00453172
19-9721384-A-C p.Phe318Cys missense ZNF561 1 81004 1.23451E-5 40502 0 4.94226E-5
19-9721401-A-T p.Thr312Thr synonymous ZNF561 18520 80684 0.229537 40342 2520 0.272562
19-9721401-A-C p.Thr312Thr synonymous ZNF561 3 81000 3.7037E-5 40500 0 2.47125E-5
19-9721418-T-C p.Lys307Glu missense ZNF561 1 81006 1.23448E-5 40503 0 NA
19-9721444-T-A p.Asp298Val missense ZNF561 2 81008 2.46889E-5 40504 0 3.97855E-6
19-9721450-A-C p.Leu296Arg missense ZNF561 2 81010 2.46883E-5 40505 0 NA
19-9721451-G-A p.Leu296Phe missense ZNF561 2 81010 2.46883E-5 40505 0 3.97861E-6
19-9721453-C-G p.Cys295Ser missense ZNF561 2 81008 2.46889E-5 40504 0 3.97928E-6
19-9721465-C-T p.Arg291Lys missense ZNF561 8 80996 9.87703E-5 40498 0 2.86606E-4
19-9721510-T-C p.Lys276Arg missense ZNF561 1 80960 1.23518E-5 40480 0 1.19555E-5
19-9721511-T-C p.Lys276Glu missense ZNF561 3 80958 3.70563E-5 40479 0 1.91022E-4
19-9721521-C-T p.Val272Val synonymous ZNF561 3 80950 3.70599E-5 40475 0 9.0852E-5
19-9721521-C-A p.Val272Val synonymous ZNF561 1 80954 1.23527E-5 40477 0 NA
19-9721521-CA-TG p.Val272Ala missense ZNF561 1 80954 1.23527E-5 40477 0 NA
19-9721522-A-G p.Val272Ala missense ZNF561 3 80946 3.70617E-5 40473 0 9.0861E-5
19-9721525-G-T p.Pro271His missense ZNF561 4 80942 4.94181E-5 40471 0 9.0861E-5
19-9721526-G-T p.Pro271Thr missense ZNF561 2 80946 2.47078E-5 40473 0 NA
19-9721554-G-C p.Ser261Ser synonymous ZNF561 145 80938 0.00179149 40469 0 0.00143778
19-9721564-C-T p.Cys258Tyr missense ZNF561 30 80924 3.70718E-4 40462 1 4.06845E-4
19-9721566-T-C p.Lys257Lys synonymous ZNF561 1 80934 1.23557E-5 40467 0 NA
19-9721569-C-A p.Lys256Asn missense ZNF561 1 80928 1.23567E-5 40464 0 NA
19-9721580-T-C p.Lys253Glu missense ZNF561 15 80934 1.85336E-4 40467 0 8.26228E-6
19-9721584-TTTC-T p.Lys251del disruptive_inframe_deletion ZNF561 1 80924 1.23573E-5 40462 0 NA
19-9721587-C-A p.Lys250Asn missense ZNF561 1 80928 1.23567E-5 40464 0 8.26119E-6
19-9721602-T-A p.Ala245Ala synonymous ZNF561 1 80956 1.23524E-5 40478 0 NA
19-9721612-T-C p.Gln242Arg missense ZNF561 1 80964 1.23512E-5 40482 0 NA
19-9721614-C-T n.879G>A splice_region ZNF561 1 80964 1.23512E-5 40482 0 NA
19-9721623-TGAA-T p.Ser238del disruptive_inframe_deletion ZNF561 5 80958 6.17604E-5 40479 0 5.04032E-4
19-9721645-C-T p.Gly231Glu missense ZNF561 15 80958 1.85281E-4 40479 0 6.60055E-5
19-9721648-T-C p.Tyr230Cys missense ZNF561 1 80956 1.23524E-5 40478 0 NA
19-9721663-C-G p.Cys225Ser missense ZNF561 1 80954 1.23527E-5 40477 0 6.36821E-5
19-9721672-T-G p.Glu222Ala missense ZNF561 1 80956 1.23524E-5 40478 0 3.1841E-5
19-9721675-T-C p.Asp221Gly missense ZNF561 1 80948 1.23536E-5 40474 0 NA
19-9721676-C-G p.Asp221His missense ZNF561 2 80950 2.47066E-5 40475 0 1.6494E-5
19-9721678-G-C p.Thr220Ser missense ZNF561 2 80952 2.4706E-5 40476 0 1.1937E-5
19-9721691-T-C p.Met216Val missense ZNF561 3 80960 3.70553E-5 40480 0 8.24661E-6
19-9721701-A-G p.Leu212Leu synonymous ZNF561 1113 80942 0.0137506 40471 54 0.0272982
19-9721708-G-A p.Ala210Val missense ZNF561 3 80944 3.70627E-5 40472 0 1.649E-5
19-9721713-A-G p.Tyr208Tyr synonymous ZNF561 9 80956 1.11172E-4 40478 0 NA
19-9721723-C-G p.Gly205Ala missense ZNF561 1 80952 1.2353E-5 40476 0 8.2447E-6
19-9721730-C-T p.Gly203Arg missense ZNF561 5 80962 6.17574E-5 40481 0 0.00100705
19-9721733-A-G p.Cys202Arg missense ZNF561 2 80960 2.47036E-5 40480 0 4.94731E-5
19-9721739-T-C p.Lys200Glu missense ZNF561 15 80960 1.85277E-4 40480 0 6.25E-4
19-9721759-G-C p.Ala193Gly missense ZNF561 3 80918 3.70746E-5 40459 0 3.18532E-5
19-9721762-T-C p.Asn192Ser missense ZNF561 1 80906 1.236E-5 40453 0 3.18451E-5
19-9721777-T-C p.His187Arg missense ZNF561 4 80880 4.9456E-5 40440 0 8.24606E-6
19-9721781-C-T p.Val186Ile missense ZNF561 15 80848 1.85533E-4 40424 0 3.97981E-6
19-9721781-C-G p.Val186Leu missense ZNF561 1 80848 1.23689E-5 40424 0 NA
19-9721796-TTAGAG-T p.Thr179fs frameshift ZNF561 1 80782 1.2379E-5 40391 0 3.18451E-5
19-9721798-A-T p.Leu180Gln missense ZNF561 1 80774 1.23802E-5 40387 0 NA
19-9721802-T-C p.Thr179Ala missense ZNF561 29 80764 3.59071E-4 40382 1 1.56686E-4
19-9721805-A-G p.Phe178Leu missense ZNF561 2 80764 2.47635E-5 40382 0 1.59248E-5
19-9721816-C-T p.Cys174Tyr missense ZNF561 2 80730 2.47739E-5 40365 0 3.98298E-6
19-9721834-A-C p.Leu168Arg missense ZNF561 1 80720 1.23885E-5 40360 0 4.78095E-5
19-9721843-C-G p.Gly165Ala missense ZNF561 1 80736 1.2386E-5 40368 0 NA
19-9721856-C-T p.Glu161Lys missense ZNF561 1 80756 1.2383E-5 40378 0 NA
19-9721867-C-G p.Ser157Thr missense ZNF561 1 80776 1.23799E-5 40388 0 3.98267E-6
19-9721869-G-A p.Leu156Leu synonymous ZNF561 1 80780 1.23793E-5 40390 0 2.47349E-5
19-9721883-C-T p.Gly152Arg missense ZNF561 4 80812 4.94976E-5 40406 0 3.18695E-5
19-9721884-A-G n.579T>C splice_region ZNF561 1 80824 1.23726E-5 40412 0 NA
19-9721900-G-A p.Ser146Phe missense ZNF561 3 80876 3.70938E-5 40438 0 3.18532E-5
19-9721903-G-A p.Thr145Ile missense ZNF561 1 80870 1.23655E-5 40435 0 1.19452E-5
19-9721910-C-G p.Gly143Arg missense ZNF561 1 80886 1.23631E-5 40443 0 NA
19-9721917-C-A p.Gln140His missense ZNF561 1 80884 1.23634E-5 40442 0 NA
19-9721934-T-C p.Thr135Ala missense ZNF561 2 80904 2.47207E-5 40452 0 3.98102E-6
19-9721942-C-CA p.Cys132fs frameshift ZNF561 2 80902 2.47213E-5 40451 0 NA
19-9721952-C-T p.Glu129Lys missense ZNF561 4 80884 4.94535E-5 40442 0 5.77215E-5
19-9721976-T-C p.Lys121Glu missense ZNF561 1 80854 1.2368E-5 40427 0 NA
19-9721976-TACAGTC-T p.Ter91delins??? stop_lost ZNF561 1 80854 1.2368E-5 40427 0 3.98429E-6
19-9721984-CAG-C p.Cys118fs frameshift ZNF561 1 80820 1.23732E-5 40410 0 3.1839E-5
19-9721985-A-C p.Cys118Gly missense ZNF561 1 80816 1.23738E-5 40408 0 NA
19-9721993-C-G p.Trp115Ser missense ZNF561 1 80798 1.23765E-5 40399 0 NA
19-9722005-C-T p.Gly111Asp missense ZNF561 124 80704 0.00153648 40352 0 0.00290927
19-9722012-T-C p.Thr109Ala missense+splice_region ZNF561 1 80660 1.23977E-5 40330 0 NA
19-9722016-T-C c.325-4A>G splice_region ZNF561 1 80602 1.24066E-5 40301 0 8.44652E-6
19-9722017-T-C c.325-5A>G splice_region ZNF561 2 80594 2.48157E-5 40297 0 8.45838E-6
19-9722020-T-C c.325-8A>G splice_region ZNF561 3 80558 3.72403E-5 40279 0 1.69699E-5
19-9724722-T-C p.Asn100Ser missense ZNF561 1 80486 1.24245E-5 40243 0 NA
19-9724735-C-T p.Gly96Ser missense ZNF561 6 80738 7.43144E-5 40369 0 2.54761E-4
19-9724749-G-A p.Ser91Leu missense ZNF561 1 80920 1.23579E-5 40460 0 1.64783E-5
19-9724753-G-A p.Arg90Trp missense ZNF561 13 80940 1.60613E-4 40470 0 6.27353E-4
19-9724761-C-T p.Arg87Lys missense ZNF561 2 80962 2.47029E-5 40481 0 6.36862E-5
19-9724764-G-A p.Pro86Leu missense ZNF561 1 80970 1.23503E-5 40485 0 NA
19-9724772-T-C p.Glu83Glu synonymous ZNF561 1 80964 1.23512E-5 40482 0 6.25782E-4
19-9724773-T-A p.Glu83Val missense ZNF561 1 80972 1.23499E-5 40486 0 3.97867E-6
19-9727726-G-A p.Ser79Phe missense ZNF561 1 80740 1.23854E-5 40370 0 NA
19-9727738-A-C p.Met75Arg missense ZNF561 2 80964 2.47023E-5 40482 0 NA
19-9727778-C-G p.Glu62Gln missense ZNF561 5 81044 6.16949E-5 40522 0 1.91058E-4
19-9727779-A-T p.Thr61Thr synonymous ZNF561 1 81050 1.23381E-5 40525 0 NA
19-9727790-G-A c.-154C>T 5_prime_UTR_premature_start_codon_gain ZNF561 2 81058 2.46737E-5 40529 0 NA
19-9727796-C-T p.Ala56Thr missense ZNF561 1 81074 1.23344E-5 40537 0 NA
19-9727797-C-T p.Trp55* stop_gained ZNF561 4 81076 4.93364E-5 40538 0 2.22958E-4
19-9727814-A-G p.Phe50Leu missense ZNF561 1 81022 1.23423E-5 40511 0 1.6515E-5
19-9727815-G-C p.Asp49Glu missense ZNF561 9 81022 1.11081E-4 40511 0 0.00125
19-9727836-C-T p.Thr42Thr synonymous ZNF561 1 80990 1.23472E-5 40495 0 0.00100705
19-9727837-G-A p.Thr42Met missense ZNF561 18 80986 2.22261E-4 40493 0 3.94702E-4
19-9727839-C-T p.Val41Val splice_region+synonymous ZNF561 2 80972 2.46999E-5 40486 0 2.51627E-5
19-9727851-T-A c.115-4A>T splice_region ZNF561 5 80952 6.1765E-5 40476 0 1.19971E-5
19-9727853-T-G c.115-6A>C splice_region ZNF561 2 80950 2.47066E-5 40475 0 NA
19-9727855-A-G c.115-8T>C splice_region ZNF561 1 80930 1.23564E-5 40465 0 NA
19-9727880-A-G n.579T>C splice_region ZNF561 1 80662 1.23974E-5 40331 0 NA
19-9727909-A-G c.115-7T>C splice_region ZNF561 1 80458 1.24288E-5 40229 0 NA
19-9728380-C-A p.Ser60Ile missense ZNF561 1 51702 1.93416E-5 25851 0 6.3678E-5
19-9728382-C-A p.Lys59Asn missense ZNF561 1 51734 1.93296E-5 25867 0 8.45309E-5
19-9728398-T-C p.His54Arg missense ZNF561 3 51888 5.78168E-5 25944 0 4.76637E-4
19-9728413-C-T p.Ser49Asn missense ZNF561 5 51992 9.61686E-5 25996 0 3.82044E-4
19-9728421-C-A p.Cys43Phe missense ZNF561 1 52030 1.92197E-5 26015 0 3.18431E-5
19-9728425-C-G p.Ser45Thr missense ZNF561 1 52068 1.92057E-5 26034 0 NA
19-9728426-T-C p.Ser45Gly missense ZNF561 1 52062 1.92079E-5 26031 0 2.16057E-4
19-9728436-T-C c.115-2A>G splice_acceptor ZNF561 1 52178 1.91652E-5 26089 0 NA
19-9728448-A-G c.115-4T>C splice_region ZNF561 3 52396 5.72563E-5 26198 0 4.77494E-4
19-9728452-G-C c.115-8C>G splice_region ZNF561 1 52470 1.90585E-5 26235 0 NA
19-9728771-TAAC-T p.Gly36_Tyr37delinsAsp disruptive_inframe_deletion ZNF561 1 79890 1.25172E-5 39945 0 NA
19-9728775-C-T p.Gly36Ser missense ZNF561 1 79892 1.25169E-5 39946 0 NA
19-9728777-C-T p.Ser35Asn missense ZNF561 1 79914 1.25135E-5 39957 0 NA
19-9728780-G-A p.Ala34Val missense ZNF561 1 79918 1.25128E-5 39959 0 NA
19-9728781-C-A p.Ala34Ser missense ZNF561 2 79916 2.50263E-5 39958 0 4.79708E-5
19-9728782-C-G p.Leu33Leu synonymous ZNF561 1 79916 1.25131E-5 39958 0 6.38064E-6
19-9728784-G-A c.-229C>T 5_prime_UTR_premature_start_codon_gain ZNF561 15 79914 1.87702E-4 39957 1 1.33978E-4
19-9728785-G-C p.Tyr32* stop_gained ZNF561 1 79906 1.25147E-5 39953 0 NA
19-9728786-T-C p.Tyr32Cys missense ZNF561 1 79912 1.25138E-5 39956 0 NA
19-9728791-C-T p.Glu30Glu synonymous ZNF561 4 79932 5.00425E-5 39966 0 4.78698E-5
19-9728797-C-T p.Met28Ile missense ZNF561 1 79920 1.25125E-5 39960 0 NA
19-9728800-C-G p.Arg27Ser missense ZNF561 1 79924 1.25119E-5 39962 0 NA
19-9728814-T-A p.Thr23Ser missense ZNF561 5 79900 6.25782E-5 39950 0 9.57488E-5
19-9728816-T-G p.Lys22Thr missense ZNF561 409 79894 0.00511928 39947 1 0.00636902
19-9728835-T-G p.Ile16Leu missense ZNF561 2 79806 2.50608E-5 39903 0 6.39255E-6
19-9728837-G-T p.Pro15Gln missense ZNF561 1 79788 1.25332E-5 39894 0 9.5645E-5
19-9728837-G-A p.Pro15Leu missense ZNF561 1 79788 1.25332E-5 39894 0 6.39452E-6
19-9728846-G-GA p.Ser12fs frameshift ZNF561 4 79666 5.02096E-5 39833 0 9.57854E-5
19-9728847-A-G p.Ser12Pro missense ZNF561 6 79648 7.53315E-5 39824 0 1.27453E-4
19-9728854-C-A p.Gly9Gly splice_region+synonymous ZNF561 8 79590 1.00515E-4 39795 0 1.9217E-5
19-9728856-C-T c.26-1G>A splice_acceptor ZNF561 3 79548 3.77131E-5 39774 0 9.68617E-5
19-9730100-A-G c.25+8T>C splice_region ZNF561 2 80266 2.49171E-5 40133 0 NA
19-9730106-A-C c.25+2T>G splice_donor ZNF561 1 80252 1.24607E-5 40126 0 NA
19-9730110-C-T p.Arg8His missense+splice_region ZNF561 12 80298 1.49443E-4 40149 0 2.59645E-4
19-9730111-G-A p.Arg8Cys missense ZNF561 3 80302 3.7359E-5 40151 0 1.99746E-5
19-9730115-C-T p.Val17Ile missense ZNF561 6 80330 7.46919E-5 40165 0 0.0025
19-9730123-T-C p.Ile4Val missense ZNF561 1 80324 1.24496E-5 40162 0 NA
19-9730132-T-C p.Met1? start_lost ZNF561 1 80370 1.24425E-5 40185 0 NA
19-9730142-C-G p.Ala8Pro missense ZNF561 1 80392 1.2439E-5 40196 0 NA
19-9730145-A-T p.Ser7Thr missense ZNF561 2 80400 2.48756E-5 40200 0 8.29256E-6
19-9730149-T-A p.Thr5Thr synonymous ZNF561 1 80392 1.2439E-5 40196 0 NA
19-9730158-G-A p.His2His synonymous ZNF561 1 80368 1.24428E-5 40184 0 1.59215E-4
19-9730166-C-A c.-34G>T 5_prime_UTR_premature_start_codon_gain ZNF561 2 80322 2.48998E-5 40161 0 NA
19-9730173-G-C c.-41C>G 5_prime_UTR_premature_start_codon_gain ZNF561 1 80286 1.24555E-5 40143 0 8.0468E-6
19-9730209-G-A n.179-4C>T splice_region ZNF561 2 79760 2.50752E-5 39880 0 NA
19-9730217-G-C c.-85C>G 5_prime_UTR_premature_start_codon_gain ZNF561 5 79374 6.29929E-5 39687 0 6.3674E-5
19-9730233-C-A c.-101G>T 5_prime_UTR_premature_start_codon_gain ZNF561 1 78866 1.26797E-5 39433 0 NA
19-9730255-G-A c.-123C>T 5_prime_UTR_premature_start_codon_gain ZNF561 4 75228 5.31717E-5 37614 0 NA
19-9730264-CA-TG c.-126-7_-126-6delTGinsCA splice_region ZNF561 1 73464 1.36121E-5 36732 0 NA
19-9730265-A-T c.-126-7T>A splice_region ZNF561 1 71592 1.3968E-5 35796 0 NA
19-9731645-GGCAGAGGTT-G c.-174-15_-174-7delAACCTCTGC splice_region ZNF561 2 2476 8.07754E-4 1238 0 4.45917E-4
19-9731885-G-A c.-174C>T 5_prime_UTR_premature_start_codon_gain ZNF561 2 4158 4.81E-4 2079 0 NA
19-9731965-G-A c.-254C>T 5_prime_UTR_premature_start_codon_gain ZNF561 684 10170 0.0672566 5085 4 0.0851675
19-9732013-T-C c.-302A>G 5_prime_UTR_premature_start_codon_gain ZNF561 1 15030 6.65336E-5 7515 0 NA
19-9732072-G-A c.-361C>T 5_prime_UTR_premature_start_codon_gain ZNF561 1 24204 4.13155E-5 12102 0 NA