Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-74347403-A-G c.-90A>G 5_prime_UTR_premature_start_codon_gain AFM 1 71726 1.39419E-5 35863 0 NA
4-74347411-A-G c.-82A>G 5_prime_UTR_premature_start_codon_gain AFM 3 73308 4.09232E-5 36654 0 NA
4-74347420-G-T c.-73G>T 5_prime_UTR_premature_start_codon_gain AFM 2 75264 2.65731E-5 37632 0 NA
4-74347433-A-G c.-60A>G 5_prime_UTR_premature_start_codon_gain AFM 1 77472 1.29079E-5 38736 0 NA
4-74347435-A-G c.-58A>G 5_prime_UTR_premature_start_codon_gain AFM 9 77764 1.15735E-4 38882 0 6.37633E-5
4-74347476-A-C c.-17A>C 5_prime_UTR_premature_start_codon_gain AFM 1 81464 1.22754E-5 40732 0 NA
4-74347478-G-A c.-15G>A 5_prime_UTR_premature_start_codon_gain AFM 108 81576 0.00132392 40788 0 0.00220166
4-74347487-A-G c.-6A>G 5_prime_UTR_premature_start_codon_gain AFM 1 82006 1.21942E-5 41003 0 6.37552E-5
4-74347493-A-T p.Met1? initiator_codon AFM 1 82118 1.21776E-5 41059 0 NA
4-74347509-T-G p.Leu6Arg missense AFM 1 82448 1.21289E-5 41224 0 8.65606E-6
4-74347514-G-C p.Gly8Arg missense AFM 1 82512 1.21194E-5 41256 0 NA
4-74347523-T-C p.Phe11Leu missense AFM 2 82610 2.42101E-5 41305 0 3.18715E-5
4-74347529-T-A p.Leu13Met missense AFM 6 82678 7.25707E-5 41339 0 1.21934E-5
4-74347531-G-GT p.Leu16fs frameshift AFM 56 82682 6.77294E-4 41341 0 9.35724E-4
4-74347531-GT-G p.Leu16fs frameshift AFM 1 82694 1.20928E-5 41347 0 1.14839E-4
4-74347531-G-T p.Leu13Phe missense AFM 1 82696 1.20925E-5 41348 0 NA
4-74347532-T-G p.Phe14Val missense AFM 72 82670 8.70933E-4 41335 0 0.00195525
4-74347546-A-T p.Glu18Asp missense AFM 5 82712 6.04507E-5 41356 0 5.04032E-4
4-74347554-C-T p.Thr21Ile missense AFM 1 82706 1.2091E-5 41353 0 NA
4-74347555-C-T p.Thr21Thr synonymous AFM 1 82714 1.20899E-5 41357 0 4.99767E-5
4-74347568-C-T p.Pro26Ser missense AFM 11 82682 1.3304E-4 41341 0 5.04032E-4
4-74347572-G-A p.Arg27Gln missense AFM 124 82616 0.00150092 41308 0 0.0036445
4-74347580-G-C p.Glu30Gln missense+splice_region AFM 2 82620 2.42072E-5 41310 0 4.21425E-6
4-74347588-A-T c.88+8A>T splice_region AFM 3 82518 3.63557E-5 41259 0 8.34683E-6
4-74349656-A-G c.89-2A>G splice_acceptor AFM 1 80356 1.24446E-5 40178 0 4.42599E-6
4-74349664-T-G p.Phe32Cys missense AFM 2 79066 2.52953E-5 39533 0 0.00117887
4-74349666-A-G p.Asn33Asp missense AFM 3 80556 3.72412E-5 40278 0 6.36862E-5
4-74349667-A-G p.Asn33Ser missense AFM 6 80616 7.44269E-5 40308 0 1.91058E-4
4-74349675-C-A p.Gln36Lys missense AFM 10 80768 1.23811E-4 40384 0 2.64029E-5
4-74349689-A-G p.Glu40Glu synonymous AFM 1 80828 1.2372E-5 40414 0 1.28975E-5
4-74349702-T-C p.Tyr45His missense AFM 1 80856 1.23677E-5 40428 0 8.8469E-6
4-74349968-G-A c.138-7G>A splice_region AFM 1 83242 1.20132E-5 41621 0 8.42304E-6
4-74349972-C-T c.138-3C>T splice_region AFM 3 83246 3.60378E-5 41623 0 1.2747E-4
4-74349976-A-T p.Thr47Ser missense+splice_region AFM 1 83252 1.20117E-5 41626 0 4.09031E-6
4-74349991-G-T p.Ala52Ser missense AFM 1 83270 1.20091E-5 41635 0 NA
4-74349999-T-C p.Tyr54Tyr synonymous AFM 1 83278 1.2008E-5 41639 0 6.37349E-5
4-74350001-T-A p.Val55Asp missense AFM 1 83282 1.20074E-5 41641 0 3.99141E-6
4-74350008-A-G p.Glu57Glu synonymous AFM 2 83294 2.40113E-5 41647 0 8.25546E-6
4-74350009-G-C p.Ala58Pro missense AFM 2 83296 2.40108E-5 41648 0 3.18695E-5
4-74350027-G-T p.Glu64* stop_gained AFM 1 83302 1.20045E-5 41651 0 NA
4-74350032-G-A p.Lys65Lys synonymous AFM 1 83300 1.20048E-5 41650 0 NA
4-74350042-G-T p.Asp69Tyr missense AFM 2 83298 2.40102E-5 41649 0 NA
4-74350048-G-T p.Val71Leu missense AFM 1 83288 1.20065E-5 41644 0 NA
4-74350069-A-G p.Met78Val missense AFM 3 83286 3.60205E-5 41643 0 5.03525E-4
4-74350076-A-C p.Asp80Ala missense AFM 2 83274 2.40171E-5 41637 0 NA
4-74350082-C-T p.Thr82Met missense AFM 3 83254 3.60343E-5 41627 0 0.0020141
4-74350083-G-A p.Thr82Thr synonymous AFM 40 83252 4.80469E-4 41626 0 2.52012E-4
4-74350083-G-T p.Thr82Thr synonymous AFM 17 83252 2.04199E-4 41626 0 8.4004E-5
4-74350090-G-A p.Glu85Lys missense AFM 1 83240 1.20135E-5 41620 0 NA
4-74350092-G-T p.Glu85Asp missense AFM 1 83236 1.2014E-5 41618 0 1.6608E-5
4-74350100-A-T p.Lys88Ile missense AFM 4 82828 4.82928E-5 41414 0 1.08078E-4
4-74351576-T-G c.271-3T>G splice_region AFM 1 82734 1.20869E-5 41367 0 7.98722E-6
4-74351583-A-C p.Asn92Thr missense AFM 1 82866 1.20677E-5 41433 0 3.18634E-5
4-74351592-A-G p.Gln95Arg missense AFM 2 82980 2.41022E-5 41490 0 NA
4-74351593-G-T p.Gln95His missense AFM 10 82994 1.20491E-4 41497 0 2.03263E-4
4-74351603-T-C p.Cys99Arg missense AFM 1 83070 1.2038E-5 41535 0 6.37349E-5
4-74351607-C-T p.Ala100Val missense AFM 1 83106 1.20328E-5 41553 0 4.9687E-5
4-74351612-G-A p.Glu102Lys missense AFM 1 83134 1.20288E-5 41567 0 NA
4-74351613-A-AG p.Leu104fs frameshift AFM 1 83134 1.20288E-5 41567 0 NA
4-74351651-A-G p.Ser115Gly missense AFM 1 83248 1.20123E-5 41624 0 NA
4-74351658-T-A p.Val117Asp missense AFM 1 83264 1.201E-5 41632 0 7.95596E-6
4-74351676-T-C p.Leu123Pro missense AFM 3 83266 3.60291E-5 41633 0 1.98897E-5
4-74351700-C-A p.Ser131Tyr missense AFM 1 83264 1.201E-5 41632 0 3.18654E-5
4-74351705-G-C p.Val133Leu missense AFM 2 83258 2.40217E-5 41629 0 8.24239E-6
4-74351717-C-T p.Pro137Ser missense AFM 3 83242 3.60395E-5 41621 0 0.00100806
4-74351740-C-T p.Pro144Pro synonymous AFM 1 83190 1.20207E-5 41595 0 3.30011E-5
4-74351741-G-A p.Glu145Lys missense AFM 5 83186 6.01063E-5 41593 0 4.12568E-5
4-74351744-GAG-AAA p.Glu146Lys missense AFM 1 83174 1.2023E-5 41587 0 NA
4-74351756-G-C p.Ala150Pro missense AFM 2 83130 2.40587E-5 41565 0 5.04032E-4
4-74351767-T-C p.Ser153Ser synonymous AFM 1 83078 1.20369E-5 41539 0 NA
4-74351772-G-A p.Arg155Lys missense AFM 1 83040 1.20424E-5 41520 0 3.98292E-6
4-74351777-T-A p.Ser157Thr missense AFM 284 82998 0.00342177 41499 3 0.00726624
4-74351783-T-C p.Leu159Leu synonymous AFM 2 82936 2.4115E-5 41468 0 8.30841E-6
4-74351790-A-C p.His161Pro missense+splice_region AFM 2 82850 2.414E-5 41425 0 NA
4-74351790-AG-CA p.His161Pro splice_donor AFM 1 82850 1.207E-5 41425 0 NA
4-74351794-A-T c.482+4A>T splice_region AFM 6 82806 7.24585E-5 41403 0 1.60237E-5
4-74352684-C-A p.His161Gln missense+splice_region AFM 1 83042 1.20421E-5 41521 0 3.19918E-5
4-74352693-T-A p.Tyr164* stop_gained AFM 2 83162 2.40494E-5 41581 0 NA
4-74352696-A-G p.Glu165Glu synonymous AFM 2 83156 2.40512E-5 41578 0 6.38081E-5
4-74352715-T-C p.Phe172Leu missense AFM 1 83228 1.20152E-5 41614 0 NA
4-74352723-C-T p.Phe174Phe synonymous AFM 101 83254 0.00121315 41627 1 0.00379811
4-74352724-G-A p.Ala175Thr missense AFM 2 83250 2.4024E-5 41625 0 3.18469E-5
4-74352725-C-T p.Ala175Val missense AFM 1 83258 1.20109E-5 41629 0 NA
4-74352730-A-G p.Thr177Ala missense AFM 1 83270 1.20091E-5 41635 0 2.38745E-5
4-74352748-G-C p.Val183Leu missense AFM 1 83284 1.20071E-5 41642 0 1.19353E-5
4-74352755-T-G p.Phe185Cys missense AFM 2 83296 2.40108E-5 41648 0 1.64823E-5
4-74352760-G-A p.Glu187Lys missense AFM 1 83300 1.20048E-5 41650 0 3.18593E-5
4-74352760-G-C p.Glu187Gln missense AFM 1 83300 1.20048E-5 41650 0 NA
4-74352761-A-T p.Glu187Val missense AFM 1 83302 1.20045E-5 41651 0 NA
4-74352767-C-A p.Ala189Asp missense AFM 1 83306 1.20039E-5 41653 0 NA
4-74352771-A-T p.Lys190Asn missense AFM 1 83306 1.20039E-5 41653 0 NA
4-74352781-G-A p.Glu194Lys missense AFM 1 83298 1.20051E-5 41649 0 3.18431E-5
4-74352785-A-T p.Glu195Val missense AFM 1 83302 1.20045E-5 41651 0 6.36821E-5
4-74352786-A-T p.Glu195Asp missense AFM 1 83302 1.20045E-5 41651 0 NA
4-74352792-CA-C p.Val199fs frameshift AFM 1 83284 1.20071E-5 41642 0 3.97988E-6
4-74352793-A-G p.Lys198Glu missense AFM 1 83282 1.20074E-5 41641 0 3.1835E-5
4-74352799-AA-TT p.Asn200Phe missense AFM 527 83270 0.00632881 41635 7 NA
4-74352799-A-T p.Asn200Tyr missense AFM 29 83276 3.4824E-4 41638 5 0.0148061
4-74352800-A-T p.Asn200Ile missense AFM 29 83272 3.48256E-4 41636 5 0.0148042
4-74352809-A-C p.Gln203Pro missense AFM 1 83254 1.20114E-5 41627 0 NA
4-74352816-G-A p.Arg205Arg splice_region+synonymous AFM 2 83214 2.40344E-5 41607 0 6.25E-4
4-74352816-G-T p.Arg205Ser missense+splice_region AFM 2 83218 2.40333E-5 41609 0 4.16563E-5
4-74352817-G-T c.615+1G>T splice_donor AFM 1 83220 1.20163E-5 41610 0 3.18431E-5
4-74352823-A-G c.615+7A>G splice_region AFM 1 83204 1.20187E-5 41602 0 8.36568E-6
4-74352824-T-C c.615+8T>C splice_region AFM 5 83190 6.01034E-5 41595 0 7.53819E-5
4-74353439-A-T c.616-2A>T splice_acceptor AFM 1 82822 1.20741E-5 41411 0 1.2183E-5
4-74353443-A-C p.Ala206Ala splice_region+synonymous AFM 1 82862 1.20683E-5 41431 0 1.60045E-5
4-74353447-C-T p.Pro208Ser missense AFM 2 82904 2.41243E-5 41452 0 NA
4-74353456-C-A p.Gln211Lys missense AFM 31 82954 3.73701E-4 41477 0 5.4147E-4
4-74353457-A-G p.Gln211Arg missense AFM 3 82950 3.61664E-5 41475 0 1.9943E-5
4-74353486-A-G p.Lys221Glu missense AFM 1 83068 1.20383E-5 41534 0 NA
4-74353488-A-C p.Lys221Asn missense AFM 1 83062 1.20392E-5 41531 0 0.00151057
4-74353514-T-A p.Phe230Tyr missense AFM 2 83090 2.40703E-5 41545 0 6.36943E-5
4-74353516-G-A p.Gly231Arg missense AFM 2 83094 2.40691E-5 41547 0 4.16223E-5
4-74353521-CA-C p.Val234fs frameshift AFM 2 83072 2.40755E-5 41536 0 3.18451E-5
4-74353522-A-G p.Lys233Glu missense AFM 3 83074 3.61124E-5 41537 0 7.97111E-6
4-74353539-G-A c.713+1G>A splice_donor AFM 4 83070 4.81522E-5 41535 0 1.19845E-5
4-74353539-G-T c.713+1G>T splice_donor AFM 2 83070 2.40761E-5 41535 0 3.18573E-4
4-74353542-A-C c.713+4A>C splice_region AFM 1 83052 1.20406E-5 41526 0 8.03064E-6
4-74353542-A-G c.713+4A>G splice_region AFM 5 83052 6.02032E-5 41526 0 3.21226E-5
4-74354351-A-G p.Ile240Val missense AFM 1 83010 1.20467E-5 41505 0 1.65508E-5
4-74354353-T-C p.Ile240Ile synonymous AFM 1 83016 1.20459E-5 41508 0 NA
4-74354355-C-T p.Ala241Val missense AFM 7 83040 8.42967E-5 41520 0 5.04541E-4
4-74354356-G-A p.Ala241Ala synonymous AFM 4 83060 4.8158E-5 41530 0 3.22505E-5
4-74354356-G-T p.Ala241Ala synonymous AFM 1 83060 1.20395E-5 41530 0 NA
4-74354358-TAC-T p.Leu243fs frameshift AFM 1 83084 1.2036E-5 41542 0 NA
4-74354363-A-T p.Ser244Cys missense AFM 1 83102 1.20334E-5 41551 0 NA
4-74354395-G-A p.Glu254Glu synonymous AFM 1 83218 1.20166E-5 41609 0 3.18634E-5
4-74354395-G-T p.Glu254Asp missense AFM 1 83218 1.20166E-5 41609 0 3.99026E-6
4-74354396-C-T p.Leu255Phe missense AFM 1 83220 1.20163E-5 41610 0 3.99065E-6
4-74354403-C-T p.Ser257Phe missense AFM 2 83256 2.40223E-5 41628 0 3.98807E-6
4-74354406-T-C p.Leu258Pro missense AFM 4 83260 4.80423E-5 41630 0 5.03525E-4
4-74354409-T-C p.Val259Ala missense AFM 4 83258 4.80434E-5 41629 0 3.18492E-5
4-74354414-G-A p.Asp261Asn missense AFM 1 83270 1.20091E-5 41635 0 NA
4-74354432-G-T p.Asp267Tyr missense AFM 13 83278 1.56104E-4 41639 0 1.19671E-4
4-74354433-A-G p.Asp267Gly missense AFM 13 83282 1.56096E-4 41641 0 4.45775E-4
4-74354435-G-T p.Gly268* stop_gained AFM 1 83278 1.2008E-5 41639 0 NA
4-74354437-A-G p.Gly268Gly synonymous AFM 2 83278 2.40159E-5 41639 0 6.36943E-5
4-74354438-T-G p.Cys269Gly missense AFM 1 83278 1.2008E-5 41639 0 NA
4-74354453-G-C p.Val274Leu missense AFM 1 83262 1.20103E-5 41631 0 NA
4-74354465-A-C p.Ile278Leu missense AFM 4 83214 4.80688E-5 41607 0 7.77045E-5
4-74354468-C-T p.Arg279Cys missense AFM 6 83208 7.21085E-5 41604 0 3.29636E-5
4-74354468-C-A p.Arg279Ser missense AFM 1 83208 1.20181E-5 41604 0 2.87933E-5
4-74354474-A-T p.Thr281Ser missense+splice_region AFM 10 83200 1.20192E-4 41600 0 2.20532E-4
4-74354476-G-A p.Thr281Thr splice_region+synonymous AFM 6 83172 7.21397E-5 41586 0 6.25E-4
4-74357584-T-C c.844-5T>C splice_region AFM 1 82876 1.20662E-5 41438 0 3.18512E-5
4-74357585-AC-A c.844-3delC splice_region AFM 1 82884 1.20651E-5 41442 0 NA
4-74357587-A-C c.844-2A>C splice_acceptor AFM 1 82884 1.20651E-5 41442 0 4.03067E-6
4-74357604-C-A p.His287Asn missense AFM 1 82942 1.20566E-5 41471 0 0.0025
4-74357604-C-G p.His287Asp missense AFM 3 82942 3.61699E-5 41471 0 3.48022E-4
4-74357607-A-G p.Ile288Val missense AFM 1 82944 1.20563E-5 41472 0 NA
4-74357608-T-C p.Ile288Thr missense AFM 1 82946 1.2056E-5 41473 0 NA
4-74357614-C-G p.Ser290* stop_gained AFM 1 82964 1.20534E-5 41482 0 2.48316E-5
4-74357634-A-C p.Ser297Arg missense AFM 6 83038 7.22561E-5 41519 0 3.1837E-5
4-74357647-A-C p.Glu301Ala missense AFM 1 83080 1.20366E-5 41540 0 1.59327E-5
4-74357650-G-C p.Cys302Ser missense AFM 5 83074 6.01873E-5 41537 0 4.38191E-5
4-74357657-A-C p.Glu304Asp missense AFM 1 83108 1.20325E-5 41554 0 NA
4-74357660-G-T p.Lys305Asn missense AFM 1 83122 1.20305E-5 41561 0 NA
4-74357673-C-T p.Arg310Cys missense AFM 4 83140 4.81116E-5 41570 0 5.17817E-5
4-74357674-G-A p.Arg310His missense AFM 8 83142 9.62209E-5 41571 0 6.25E-4
4-74357675-C-T p.Arg310Arg synonymous AFM 2 83144 2.40547E-5 41572 0 5.57671E-5
4-74357689-T-C p.Ile315Thr missense AFM 2 83170 2.40471E-5 41585 0 3.98352E-6
4-74357690-TAACTC-T p.Asn316fs frameshift AFM 2 83168 2.40477E-5 41584 0 NA
4-74357695-C-G p.Ser317* stop_gained AFM 18 83158 2.16455E-4 41579 1 4.45888E-4
4-74357696-A-T p.Ser317Ser synonymous AFM 1 83160 1.2025E-5 41580 0 1.64989E-5
4-74357704-A-G p.Asp320Gly missense AFM 1 83166 1.20241E-5 41583 0 NA
4-74357726-T-A p.Ser327Ser synonymous AFM 1 83142 1.20276E-5 41571 0 3.99751E-6
4-74357737-G-A p.Gly331Glu missense AFM 2 83120 2.40616E-5 41560 0 8.00346E-6
4-74357752-G-A p.Ser336Asn missense AFM 3 83094 3.61037E-5 41547 0 1.27356E-4
4-74357772-C-T p.Arg343* stop_gained AFM 50 83042 6.02105E-4 41521 1 3.33365E-4
4-74357773-G-A p.Arg343Gln missense AFM 1 83040 1.20424E-5 41520 0 1.20502E-5
4-74357783-C-T p.Asp346Asp synonymous AFM 2 83008 2.40941E-5 41504 0 8.27349E-6
4-74357789-C-T p.Asp348Asp synonymous AFM 1 82964 1.20534E-5 41482 0 NA
4-74357800-C-A p.Ala352Glu missense AFM 14 82860 1.6896E-4 41430 0 5.09684E-4
4-74357800-C-T p.Ala352Val missense AFM 3 82860 3.62056E-5 41430 0 1.66475E-5
4-74357801-G-A p.Ala352Ala splice_region+synonymous AFM 2 82864 2.41359E-5 41432 0 2.49842E-5
4-74357809-A-G c.1058+6A>G splice_region AFM 1 82782 1.20799E-5 41391 0 4.29004E-6
4-74361013-G-T c.1059-4G>T splice_region AFM 1 82958 1.20543E-5 41479 0 9.35944E-6
4-74361015-A-G c.1059-2A>G splice_acceptor AFM 1 82960 1.2054E-5 41480 0 4.66779E-6
4-74361018-T-C p.Phe354Leu missense+splice_region AFM 5 82984 6.02526E-5 41492 0 6.29723E-4
4-74361026-T-G p.Phe356Leu missense AFM 3 83020 3.61359E-5 41510 0 1.33605E-4
4-74361028-A-G p.Glu357Gly missense AFM 15 83018 1.80684E-4 41509 0 2.83754E-4
4-74361034-C-G p.Ser359* stop_gained AFM 1 83058 1.20398E-5 41529 0 8.68236E-6
4-74361036-A-G p.Arg360Gly missense AFM 21 83070 2.52799E-4 41535 0 5.04032E-4
4-74361038-G-A p.Arg360Arg synonymous AFM 1 83066 1.20386E-5 41533 0 NA
4-74361047-A-C p.Pro363Pro synonymous AFM 1 83068 1.20383E-5 41534 0 4.11282E-5
4-74361048-G-A p.Asp364Asn missense AFM 1 83064 1.20389E-5 41532 0 NA
4-74361053-G-C p.Leu365Leu synonymous AFM 1 83066 1.20386E-5 41533 0 8.3062E-6
4-74361057-A-G p.Ile367Val missense AFM 1 83052 1.20406E-5 41526 0 NA
4-74361074-A-G p.Arg372Arg synonymous AFM 5 83066 6.01931E-5 41533 0 3.18431E-5
4-74361075-A-G p.Ile373Val missense AFM 1 83068 1.20383E-5 41534 0 7.99578E-5
4-74361079-T-C p.Val374Ala missense AFM 1 83080 1.20366E-5 41540 0 NA
4-74361087-T-C p.Tyr377His missense AFM 5 83072 6.01888E-5 41536 0 1.15879E-4
4-74361093-G-A p.Asp379Asn missense AFM 1 83088 1.20354E-5 41544 0 NA
4-74361096-C-G p.Leu380Val missense AFM 1 83084 1.2036E-5 41542 0 NA
4-74361098-C-T p.Leu380Leu synonymous AFM 2 83086 2.40714E-5 41543 0 8.28404E-6
4-74361108-T-G p.Cys384Gly missense AFM 1 83088 1.20354E-5 41544 0 NA
4-74361109-G-T p.Cys384Phe missense AFM 6 83092 7.22091E-5 41546 0 6.25E-4
4-74361121-A-G p.Glu388Gly missense AFM 1 83074 1.20375E-5 41537 0 NA
4-74361124-A-G p.Asn389Ser missense AFM 2 83058 2.40796E-5 41529 0 NA
4-74361125-C-A p.Asn389Lys missense AFM 7 83060 8.42764E-5 41530 0 9.55231E-5
4-74361132-G-A p.Gly392Ser missense AFM 2 83004 2.40952E-5 41502 0 NA
4-74361142-G-A p.Arg395His missense AFM 3250 82880 0.0392133 41440 74 0.0694864
4-74361144-T-TA p.Tyr396fs frameshift AFM 1 82922 1.20595E-5 41461 0 3.18431E-5
4-74361147-G-A p.Ala397Thr missense+splice_region AFM 5 82904 6.03107E-5 41452 0 1.27364E-4
4-74361148-C-T p.Ala397Val missense+splice_region AFM 9 82906 1.08557E-4 41453 0 6.25E-4
4-74361149-G-T p.Ala397Ala splice_region+synonymous AFM 10 82896 1.20633E-4 41448 0 0.00100705
4-74363365-T-G c.1192-4T>G splice_region AFM 1 82456 1.21277E-5 41228 0 NA
4-74363365-T-C c.1192-4T>C splice_region AFM 1 82456 1.21277E-5 41228 0 NA
4-74363383-T-G p.Asn402Lys missense AFM 1 82772 1.20814E-5 41386 0 NA
4-74363387-A-T p.Thr404Ser missense AFM 27 82794 3.26111E-4 41397 0 0.00100806
4-74363408-A-G p.Met411Val missense AFM 3 82888 3.61934E-5 41444 0 NA
4-74363412-TACA-T p.Gln414del conservative_inframe_deletion AFM 15 82892 1.80958E-4 41446 0 6.82758E-5
4-74363414-C-T p.Gln413* stop_gained AFM 2 82890 2.41284E-5 41445 0 NA
4-74363423-T-C p.Cys416Arg missense AFM 1 82926 1.20589E-5 41463 0 1.68362E-5
4-74363431-T-A p.His418Gln missense AFM 1 82902 1.20624E-5 41451 0 NA
4-74363440-T-C p.Asn421Asn synonymous AFM 1 82862 1.20683E-5 41431 0 5.04032E-4
4-74364834-C-T p.Tyr431Tyr synonymous AFM 1 83130 1.20294E-5 41565 0 NA
4-74364838-A-C p.Ile433Leu missense AFM 3 83180 3.60664E-5 41590 0 2.48554E-4
4-74364842-G-A p.Arg434Lys missense AFM 1 83204 1.20187E-5 41602 0 NA
4-74364844-C-T p.Leu435Phe missense AFM 1 83196 1.20198E-5 41598 0 8.27185E-6
4-74364848-C-G p.Thr436Arg missense AFM 1 83200 1.20192E-5 41600 0 NA
4-74364849-G-A p.Thr436Thr synonymous AFM 2 83204 2.40373E-5 41602 0 0.00151057
4-74364872-CT-C p.Glu445fs frameshift AFM 4 83224 4.80631E-5 41612 0 6.37308E-5
4-74364888-T-C p.Ser449Ser synonymous AFM 1 83270 1.20091E-5 41635 0 NA
4-74364894-C-A p.Gly451Gly synonymous AFM 1 83254 1.20114E-5 41627 0 7.97359E-6
4-74364894-C-T p.Gly451Gly synonymous AFM 6 83254 7.20686E-5 41627 0 8.77095E-5
4-74364895-G-A p.Glu452Lys missense AFM 2 83260 2.40211E-5 41630 0 4.38443E-5
4-74364905-T-A p.Val455Glu missense AFM 17 83236 2.04239E-4 41618 0 9.05024E-4
4-74364911-CT-C p.Phe458fs frameshift AFM 1 83238 1.20137E-5 41619 0 NA
4-74364918-T-C p.Thr459Thr synonymous AFM 1 83224 1.20158E-5 41612 0 8.26856E-6
4-74364919-A-G p.Thr460Ala missense AFM 1 83216 1.20169E-5 41608 0 NA
4-74364929-C-G p.Thr463Arg missense AFM 1 83186 1.20213E-5 41593 0 3.20041E-5
4-74364929-C-T p.Thr463Met missense AFM 2 83186 2.40425E-5 41593 0 1.65511E-5
4-74364934-A-G p.Ser465Gly missense AFM 1 83160 1.2025E-5 41580 0 NA
4-74364959-A-G p.Asn473Ser missense AFM 1 82984 1.20505E-5 41492 0 NA
4-74364967-A-G c.1422+4A>G splice_region AFM 1 82900 1.20627E-5 41450 0 NA
4-74365730-G-A p.Val478Ile missense AFM 1 82454 1.2128E-5 41227 0 8.28651E-6
4-74365742-T-A p.Leu482Ile missense AFM 2 82492 2.42448E-5 41246 0 8.27691E-6
4-74365745-T-A p.Cys483Ser missense AFM 23 82534 2.78673E-4 41267 1 4.45831E-4
4-74365745-T-C p.Cys483Arg missense AFM 13 82536 1.57507E-4 41268 0 0.00151057
4-74365753-A-C p.Val485Val synonymous AFM 1 82562 1.21121E-5 41281 0 7.97601E-6
4-74365757-G-A p.Glu487Lys missense AFM 1 82580 1.21095E-5 41290 0 NA
4-74365769-A-G p.Ile491Val missense AFM 1 82624 1.2103E-5 41312 0 7.97245E-6
4-74365774-C-T p.Asn492Asn synonymous AFM 5 82628 6.05122E-5 41314 0 2.22873E-4
4-74365775-CC-TG p.Pro493Cys missense AFM 1 82634 1.21016E-5 41317 0 NA
4-74365775-C-G p.Pro493Ala missense AFM 2 82634 2.42031E-5 41317 0 NA
4-74365778-G-A p.Ala494Thr missense AFM 1 82652 1.20989E-5 41326 0 NA
4-74365789-C-CT p.Cys498fs frameshift AFM 2 82728 2.41756E-5 41364 0 NA
4-74365790-T-A p.Cys498Ser missense AFM 20 82724 2.41768E-4 41362 1 0.00251762
4-74365794-G-A p.Cys499Tyr missense AFM 1 82712 1.20901E-5 41356 0 3.18431E-5
4-74365804-CTT-C p.Phe503fs frameshift AFM 2 82750 2.41692E-5 41375 0 3.30207E-5
4-74365809-C-G p.Ala504Gly missense AFM 3 82736 3.62599E-5 41368 0 NA
4-74365815-G-A p.Arg506Lys missense AFM 1 82746 1.20852E-5 41373 0 NA
4-74365819-GC-G p.Cys509fs frameshift AFM 1 82744 1.20855E-5 41372 0 0.00100705
4-74365822-C-G p.Pro508Pro synonymous AFM 2 82756 2.41674E-5 41378 0 NA
4-74365826-T-C p.Phe510Leu missense AFM 1 82762 1.20828E-5 41381 0 NA
4-74365835-T-G p.Leu513Val missense AFM 1 82758 1.20834E-5 41379 0 NA
4-74365855-T-C p.Tyr519Tyr synonymous AFM 1 82714 1.20899E-5 41357 0 NA
4-74365856-G-GCACTCA p.Val520delinsAlaLeuMet disruptive_inframe_insertion AFM 1 82708 1.20907E-5 41354 0 NA
4-74365861-T-C p.Pro521Pro synonymous AFM 1 82684 1.20942E-5 41342 0 NA
4-74365888-C-T p.Thr530Thr synonymous AFM 3 82560 3.63372E-5 41280 0 2.62877E-4
4-74365900-CAT-C p.Met535fs frameshift AFM 1 82490 1.21227E-5 41245 0 6.08019E-5
4-74365901-A-G p.Met535Val missense AFM 2 82482 2.42477E-5 41241 0 4.39757E-5
4-74365918-T-C p.Asn540Asn synonymous AFM 1 82346 1.21439E-5 41173 0 9.39426E-6
4-74365933-G-T p.Arg545Ser missense AFM 2 82236 2.43202E-5 41118 0 NA
4-74365933-G-A p.Arg545Arg synonymous AFM 1 82236 1.21601E-5 41118 0 NA
4-74365941-A-G p.Asp548Gly missense AFM 1 82134 1.21752E-5 41067 0 NA
4-74365952-T-C c.1646+8T>C splice_region AFM 4 81902 4.88389E-5 40951 0 5.89477E-4
4-74367497-GC-G c.1647-6delC splice_region AFM 2 82008 2.43879E-5 41004 0 2.54411E-4
4-74367499-C-T c.1647-5C>T splice_region AFM 1 82062 1.21859E-5 41031 0 6.36902E-5
4-74367500-A-G c.1647-4A>G splice_region AFM 1 82072 1.21844E-5 41036 0 1.62259E-5
4-74367505-T-C p.Phe550Leu missense+splice_region AFM 1 82086 1.21823E-5 41043 0 5.67548E-5
4-74367520-G-C p.Val555Leu missense AFM 3 82218 3.64884E-5 41109 0 1.27348E-4
4-74367522-G-A p.Val555Val synonymous AFM 1 82210 1.2164E-5 41105 0 NA
4-74367525-G-A p.Lys556Lys synonymous AFM 2 82208 2.43285E-5 41104 0 NA
4-74367526-C-G p.Leu557Val missense AFM 1 82222 1.21622E-5 41111 0 8.75212E-6
4-74367534-T-C p.His559His synonymous AFM 1 82276 1.21542E-5 41138 0 2.58393E-5
4-74367538-C-G p.Leu561Val missense AFM 1 82306 1.21498E-5 41153 0 NA
4-74367539-T-G p.Leu561Arg missense AFM 1 82328 1.21465E-5 41164 0 3.99846E-6
4-74367546-T-G p.Asp563Glu missense AFM 1 82376 1.21395E-5 41188 0 8.47802E-6
4-74367552-G-A p.Glu565Glu synonymous AFM 2 82402 2.42713E-5 41201 0 3.1837E-5
4-74367556-C-A p.Gln567Lys missense AFM 2 82440 2.42601E-5 41220 0 1.00592E-4
4-74367557-A-G p.Gln567Arg missense AFM 1 82440 1.213E-5 41220 0 NA
4-74367563-T-A p.Leu569* stop_gained AFM 1 82466 1.21262E-5 41233 0 8.33514E-6
4-74367569-C-G p.Thr571Arg missense AFM 1 82478 1.21244E-5 41239 0 NA
4-74367576-C-A p.Phe573Leu missense AFM 4 82486 4.84931E-5 41243 0 3.1841E-5
4-74367577-G-A p.Ala574Thr missense AFM 4 82474 4.85001E-5 41237 0 6.25E-4
4-74367577-G-T p.Ala574Ser missense AFM 1 82474 1.2125E-5 41237 0 8.29986E-6
4-74367590-A-G p.Asp578Gly missense AFM 6 82550 7.26832E-5 41275 0 1.27332E-4
4-74367591-T-C p.Asp578Asp synonymous AFM 2 82564 2.42236E-5 41282 0 NA
4-74367595-T-G p.Cys580Gly missense AFM 4 82576 4.84402E-5 41288 0 1.19671E-5
4-74367605-CAG-C p.Pro586fs frameshift AFM 1 82600 1.21065E-5 41300 0 5.79835E-5
4-74367635-A-G p.Glu593Gly missense+splice_region AFM 2 82398 2.42724E-5 41199 0 NA
4-74367644-T-G c.1779+8T>G splice_region AFM 1 82270 1.21551E-5 41135 0 4.04655E-6
4-74368759-C-T c.1780-8C>T splice_region AFM 1 82458 1.21274E-5 41229 0 8.27897E-6
4-74368830-A-G c.*40+3A>G splice_region AFM 1 82136 1.21749E-5 41068 0 NA
4-74369594-G-A c.*42G>A splice_region AFM 8 2942 0.00271924 1471 0 0.0101351