Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-38424429-C-T p.Arg651His missense AMPH 1 83324 1.20013E-5 41662 0 5.03525E-4
7-38424430-G-A p.Arg651Cys missense AMPH 84 83322 0.00100814 41661 0 0.004375
7-38424432-C-T p.Arg650Gln missense AMPH 1 83330 1.20005E-5 41665 0 0.00100705
7-38424449-A-G p.Phe644Phe synonymous AMPH 2 83328 2.40015E-5 41664 0 NA
7-38424455-G-A p.Gly642Gly synonymous AMPH 2 83326 2.40021E-5 41663 0 NA
7-38424470-A-G p.Leu637Leu synonymous AMPH 1 83334 1.19999E-5 41667 0 NA
7-38424482-C-T p.Gln633Gln synonymous AMPH 23 83336 2.75991E-4 41668 0 2.87136E-4
7-38424483-T-C p.Gln633Arg missense AMPH 25 83330 3.00012E-4 41665 0 1.91339E-4
7-38424491-G-C p.Asp630Glu missense AMPH 2 83326 2.40021E-5 41663 0 NA
7-38424511-C-A p.Val624Leu missense AMPH 1 83310 1.20034E-5 41655 0 3.19264E-5
7-38424514-G-A p.Leu623Leu synonymous AMPH 1 83306 1.20039E-5 41653 0 3.19346E-5
7-38429401-T-G c.1854+4A>C splice_region AMPH 2 83192 2.40408E-5 41596 0 3.18532E-5
7-38429420-A-G p.Asp613Asp synonymous AMPH 2 83262 2.40206E-5 41631 0 8.23764E-6
7-38429427-G-A p.Pro611Leu missense AMPH 1 83272 1.20088E-5 41636 0 1.6475E-5
7-38429451-C-A p.Arg603Met missense AMPH 3 83280 3.60231E-5 41640 0 3.97845E-6
7-38429459-G-C p.Thr600Thr synonymous AMPH 1 83268 1.20094E-5 41634 0 NA
7-38429489-A-G p.Asp590Asp synonymous AMPH 1 83198 1.20195E-5 41599 0 3.98305E-6
7-38431346-T-C c.1752+3A>G splice_region AMPH 1 83100 1.20337E-5 41550 0 4.04403E-6
7-38431355-G-A p.Leu582Leu synonymous AMPH 2 83146 2.40541E-5 41573 0 NA
7-38431369-G-A p.Pro578Ser missense AMPH 1 83168 1.20239E-5 41584 0 1.07753E-4
7-38431385-C-G p.Glu572Asp missense AMPH 47 83192 5.64958E-4 41596 1 0.00159297
7-38431385-C-T p.Glu572Glu synonymous AMPH 2 83192 2.40408E-5 41596 0 2.78944E-5
7-38431394-A-C p.Ser569Ser synonymous AMPH 1 83184 1.20215E-5 41592 0 NA
7-38431404-T-C p.Gln566Arg missense AMPH 1 83188 1.2021E-5 41594 0 7.96305E-6
7-38431410-G-A p.Ala564Val missense AMPH 2 83162 2.40494E-5 41581 0 NA
7-38431415-C-T p.Gly562Gly synonymous AMPH 1231 83134 0.0148074 41567 17 0.01143
7-38431416-C-T p.Gly562Glu missense AMPH 1 83144 1.20273E-5 41572 0 NA
7-38431427-T-C p.Ala558Ala synonymous AMPH 1 83024 1.20447E-5 41512 0 NA
7-38431430-A-G p.Ser557Ser synonymous AMPH 7981 82910 0.096261 41455 464 0.125881
7-38431436-C-T p.Thr555Thr synonymous AMPH 16650 82664 0.201418 41332 1772 0.230519
7-38431439-G-A p.Pro554Pro synonymous AMPH 22 83082 2.64799E-4 41541 0 2.86734E-4
7-38431441-G-A p.Pro554Ser missense AMPH 3 83074 3.61124E-5 41537 0 NA
7-38431443-T-C p.Gln553Arg missense AMPH 3 83074 3.61124E-5 41537 0 1.20077E-5
7-38431456-T-C p.Ile549Val missense AMPH 1 83140 1.20279E-5 41570 0 3.99626E-5
7-38431457-A-G p.Pro548Pro synonymous AMPH 1 83138 1.20282E-5 41569 0 NA
7-38431469-C-T p.Thr544Thr synonymous AMPH 2 83148 2.40535E-5 41574 0 8.26009E-6
7-38431470-G-A p.Thr544Met missense AMPH 276 83158 0.00331898 41579 0 0.00198054
7-38431481-C-A p.Pro540Pro synonymous AMPH 14749 82974 0.177754 41487 1489 0.203169
7-38431481-CGG-AGA p.Pro540Ser missense AMPH 2 83210 2.40356E-5 41605 0 NA
7-38431483-G-A p.Pro540Ser missense AMPH 1 83210 1.20178E-5 41605 0 6.25782E-4
7-38431485-G-C p.Thr539Arg missense AMPH 22 83212 2.64385E-4 41606 0 2.55004E-4
7-38431486-T-G p.Thr539Pro missense AMPH 1 83196 1.20198E-5 41598 0 NA
7-38431502-C-G p.Pro533Pro synonymous AMPH 1 83224 1.20158E-5 41612 0 3.19122E-5
7-38431503-G-A p.Pro533Leu missense AMPH 1 83232 1.20146E-5 41616 0 5.03525E-4
7-38431507-G-A p.Pro532Ser missense AMPH 8 83242 9.61053E-5 41621 0 NA
7-38431511-C-T p.Ala530Ala synonymous AMPH 9093 83096 0.109428 41548 568 0.142678
7-38431511-CGC-TGT p.Ala530Thr missense AMPH 1 83242 1.20132E-5 41621 0 NA
7-38431513-C-T p.Ala530Thr missense AMPH 1 83248 1.20123E-5 41624 0 0.00100705
7-38431517-C-G p.Glu528Asp missense AMPH 1 83258 1.20109E-5 41629 0 3.18593E-5
7-38431519-C-T p.Glu528Lys missense AMPH 1 83256 1.20111E-5 41628 0 8.25191E-6
7-38431520-G-A p.Thr527Thr synonymous AMPH 6 83258 7.20651E-5 41629 0 4.12609E-5
7-38431538-T-C p.Ala521Ala synonymous AMPH 1 83276 1.20083E-5 41638 0 NA
7-38431541-A-C p.Gly520Gly synonymous AMPH 2 83282 2.40148E-5 41641 0 8.24416E-6
7-38431544-T-C p.Ile519Met missense AMPH 1 83276 1.20083E-5 41638 0 NA
7-38431551-A-G p.Ile517Thr missense AMPH 2 83276 2.40165E-5 41638 0 NA
7-38431555-C-T p.Glu516Lys missense AMPH 3 83278 3.60239E-5 41639 0 8.24212E-6
7-38431556-G-A p.Asn515Asn synonymous AMPH 1 83272 1.20088E-5 41636 0 8.24212E-6
7-38431565-T-A p.Glu512Asp missense AMPH 1 83274 1.20085E-5 41637 0 NA
7-38431579-T-G p.Asn508His missense AMPH 1 83232 1.20146E-5 41616 0 NA
7-38431582-A-G p.Ser507Pro missense AMPH 2 83216 2.40338E-5 41608 0 NA
7-38431591-C-G p.Glu504Gln missense AMPH 1 83152 1.20262E-5 41576 0 NA
7-38431594-T-C p.Ile503Val missense AMPH 1 83124 1.20302E-5 41562 0 8.24103E-5
7-38431594-T-G p.Ile503Leu missense AMPH 2 83124 2.40604E-5 41562 0 2.47231E-5
7-38431601-C-T p.Ser500Ser synonymous AMPH 1 83046 1.20415E-5 41523 0 8.13372E-6
7-38431612-CCTT-C p.Lys496del conservative_inframe_deletion AMPH 1 82794 1.20782E-5 41397 0 4.18358E-6
7-38433609-G-A p.Pro493Leu missense AMPH 1 83266 1.20097E-5 41633 0 NA
7-38433616-T-A p.Thr491Ser missense AMPH 3 83286 3.60205E-5 41643 0 1.19306E-5
7-38433622-C-T p.Glu489Lys missense AMPH 8 83288 9.60523E-5 41644 0 3.18471E-5
7-38433638-A-G p.Pro483Pro synonymous AMPH 1 83334 1.19999E-5 41667 0 1.19293E-5
7-38433657-C-A p.Gly477Val missense AMPH 1 83346 1.19982E-5 41673 0 7.95254E-6
7-38433662-A-G p.Thr475Thr synonymous AMPH 2 83354 2.3994E-5 41677 0 6.37308E-5
7-38433668-T-G p.Glu473Asp missense AMPH 3 83344 3.59954E-5 41672 0 6.37389E-5
7-38433678-A-G p.Ile470Thr missense AMPH 1 83356 1.19967E-5 41678 0 NA
7-38433705-T-G p.Glu461Ala missense AMPH 1 83302 1.20045E-5 41651 0 7.95305E-6
7-38433707-C-T p.Gly460Gly synonymous AMPH 1 83300 1.20048E-5 41650 0 3.18471E-5
7-38433710-G-A p.Ala459Ala synonymous AMPH 1 83266 1.20097E-5 41633 0 1.64728E-5
7-38433718-C-A p.Val457Phe missense AMPH 2 83240 2.40269E-5 41620 0 1.19294E-5
7-38433726-T-G p.Lys454Thr missense AMPH 6308 83054 0.0759506 41527 294 0.112286
7-38433731-C-T p.Ala452Ala synonymous AMPH 1 83102 1.20334E-5 41551 0 0.00125
7-38433732-G-A p.Ala452Val missense AMPH 3 83076 3.61115E-5 41538 0 6.37349E-5
7-38433739-C-T p.Ala450Thr missense AMPH 1 83052 1.20406E-5 41526 0 NA
7-38433755-C-A p.Gly444Gly synonymous AMPH 3 82862 3.62048E-5 41431 0 1.64848E-5
7-38433755-C-T p.Gly444Gly synonymous AMPH 2 82862 2.41365E-5 41431 0 NA
7-38433758-C-A p.Glu443Asp missense AMPH 3 82886 3.61943E-5 41443 0 8.2428E-6
7-38433763-C-A p.Ala442Ser missense AMPH 261 82784 0.00315278 41392 1 0.00617795
7-38433793-C-T p.Asp432Asn missense AMPH 1 82334 1.21457E-5 41167 0 3.98054E-6
7-38433795-G-C p.Ala431Gly missense AMPH 50 82240 6.07977E-4 41120 0 0.00162462
7-38433811-T-C p.Ile426Val missense AMPH 1 81660 1.22459E-5 40830 0 NA
7-38433814-T-G p.Ile425Leu missense+splice_region AMPH 1 81452 1.22772E-5 40726 0 NA
7-38433821-G-A c.1273-7C>T splice_region AMPH 1 81086 1.23326E-5 40543 0 NA
7-38457423-A-T c.1398+2T>A splice_donor AMPH 2 82300 2.43013E-5 41150 0 NA
7-38457428-T-G p.Ala465Ala synonymous AMPH 1 82420 1.2133E-5 41210 0 NA
7-38457428-T-C p.Ala465Ala synonymous AMPH 1 82420 1.2133E-5 41210 0 3.98995E-6
7-38457453-C-T p.Arg457Gln missense AMPH 24 82724 2.90121E-4 41362 0 0.001875
7-38457454-G-A p.Arg457Trp missense AMPH 4 82722 4.83547E-5 41361 0 2.78844E-5
7-38457455-A-G p.Thr456Thr synonymous AMPH 2 82716 2.41791E-5 41358 0 5.03525E-4
7-38457456-G-T p.Thr456Asn missense AMPH 1 82776 1.20808E-5 41388 0 NA
7-38457456-G-A p.Thr456Ile missense AMPH 1 82776 1.20808E-5 41388 0 NA
7-38457459-T-A p.Asp455Val missense AMPH 2 82822 2.41482E-5 41411 0 3.98232E-6
7-38457462-A-G p.Met454Thr missense AMPH 1 82860 1.20685E-5 41430 0 NA
7-38457467-A-G p.Leu452Leu synonymous AMPH 1 82890 1.20642E-5 41445 0 NA
7-38457481-C-T p.Val448Ile missense AMPH 7 82966 8.43719E-5 41483 0 0.00100705
7-38457482-G-A p.Ala447Ala synonymous AMPH 1 82978 1.20514E-5 41489 0 8.24647E-6
7-38457488-T-G p.Thr445Thr synonymous AMPH 1 82494 1.21221E-5 41247 0 0.030715
7-38457489-G-T p.Thr445Lys missense AMPH 1 82964 1.20534E-5 41482 0 3.98108E-6
7-38457490-T-G p.Thr445Pro missense AMPH 7 82924 8.44146E-5 41462 0 0.00387623
7-38457493-C-T p.Val444Ile missense AMPH 2 82962 2.41074E-5 41481 0 NA
7-38457504-G-A p.Pro440Leu missense AMPH 1 83034 1.20433E-5 41517 0 3.18512E-5
7-38457505-G-C p.Pro440Ala missense AMPH 2 83044 2.40836E-5 41522 0 3.98124E-6
7-38457522-T-C p.Glu434Gly missense AMPH 1 83090 1.20351E-5 41545 0 NA
7-38457528-G-T p.Pro432His missense AMPH 1 83128 1.20296E-5 41564 0 8.25205E-6
7-38457538-G-C p.Gln429Glu missense AMPH 2 83124 2.40604E-5 41562 0 NA
7-38457545-T-G p.Glu426Asp missense AMPH 1 83134 1.20288E-5 41567 0 NA
7-38457551-C-G c.1273-1G>C splice_acceptor AMPH 1 83142 1.20276E-5 41571 0 NA
7-38457555-G-C c.1273-5C>G splice_region AMPH 1 83124 1.20302E-5 41562 0 NA
7-38457555-G-A c.1273-5C>T splice_region AMPH 1 83124 1.20302E-5 41562 0 NA
7-38457558-T-C c.1273-8A>G splice_region AMPH 2 83072 2.40755E-5 41536 0 4.0841E-6
7-38460507-C-T c.*87+5G>A splice_region AMPH 2 50044 3.99648E-5 25022 0 NA
7-38460514-C-T c.*85G>A splice_region AMPH 4 50296 7.95292E-5 25148 0 6.25E-4
7-38460612-A-G p.Ile108Thr missense AMPH 2 51048 3.91788E-5 25524 0 NA
7-38460621-A-G c.319-5T>C splice_region AMPH 1 51026 1.95979E-5 25513 0 7.4407E-6
7-38462015-A-C c.1272+6T>G splice_region AMPH 2 83140 2.40558E-5 41570 0 NA
7-38462042-G-T p.Asp417Glu missense AMPH 3 83252 3.60352E-5 41626 0 8.23968E-6
7-38462053-T-C p.Met414Val missense AMPH 1 83230 1.20149E-5 41615 0 NA
7-38462054-T-C p.Thr413Thr synonymous AMPH 1 83238 1.20137E-5 41619 0 NA
7-38462065-A-G p.Ser410Pro missense AMPH 3 83242 3.60395E-5 41621 0 1.31833E-4
7-38462066-A-G p.Thr409Thr synonymous AMPH 2 83250 2.4024E-5 41625 0 6.37105E-5
7-38462081-A-G c.1216-4T>C splice_region AMPH 1 83164 1.20244E-5 41582 0 NA
7-38466551-T-C c.1215+3A>G splice_region AMPH 3 83050 3.61228E-5 41525 0 6.25E-4
7-38466576-C-A p.Gly398Val missense AMPH 4 83016 4.81835E-5 41508 0 6.37308E-5
7-38466584-A-C p.Ala395Ala splice_region+synonymous AMPH 1 83010 1.20467E-5 41505 0 NA
7-38467430-G-A n.1448+8C>T splice_region AMPH 1 52036 1.92175E-5 26018 0 NA
7-38467434-G-A n.1448+4C>T splice_region AMPH 1 52056 1.92101E-5 26028 0 NA
7-38468663-C-T p.Cys392Tyr missense AMPH 2 77848 2.56911E-5 38924 0 3.18512E-5
7-38468665-C-T p.Ala391Ala synonymous AMPH 3 77850 3.85356E-5 38925 0 2.59302E-4
7-38468666-G-A p.Ala391Val missense AMPH 7 77848 8.99188E-5 38924 0 1.59418E-4
7-38468668-C-T p.Glu390Glu synonymous AMPH 2 77856 2.56885E-5 38928 0 NA
7-38468673-C-A p.Val389Leu missense AMPH 57 77854 7.3214E-4 38927 0 2.22987E-4
7-38468675-C-T p.Gly388Asp missense AMPH 2 77856 2.56885E-5 38928 0 1.43651E-5
7-38468676-C-T p.Gly388Ser missense AMPH 46 77850 5.9088E-4 38925 0 0.00162441
7-38468695-C-T p.Met305Ile missense AMPH 71403 77590 0.92026 38795 32910 0.925682
7-38468743-A-G p.Ser289Ser synonymous AMPH 1 77776 1.28574E-5 38888 0 NA
7-38468748-C-A p.Glu288* stop_gained AMPH 2 77752 2.57228E-5 38876 0 NA
7-38468755-C-T p.Leu285Leu synonymous AMPH 618 77708 0.00795285 38854 10 0.018949
7-38468766-T-C p.Thr282Ala missense AMPH 1 77684 1.28727E-5 38842 0 NA
7-38468771-A-G p.Met280Thr missense AMPH 1 77666 1.28756E-5 38833 0 3.18492E-5
7-38468772-T-C p.Met280Val missense AMPH 1 77660 1.28766E-5 38830 0 NA
7-38468796-G-A p.Pro272Ser missense AMPH 1 77624 1.28826E-5 38812 0 NA
7-38468803-C-T p.Leu269Leu synonymous AMPH 19 77608 2.4482E-4 38804 0 2.05155E-4
7-38468807-T-C p.Gln268Arg missense AMPH 1 77592 1.28879E-5 38796 0 NA
7-38468822-C-T p.Cys263Tyr missense AMPH 25 77572 3.22281E-4 38786 3 4.46828E-4
7-38468823-A-G p.Cys263Arg missense AMPH 1 77564 1.28926E-5 38782 0 NA
7-38468833-G-A p.Ala259Ala synonymous AMPH 2 77540 2.57931E-5 38770 0 7.37017E-6
7-38468834-G-A p.Ala259Val missense AMPH 1 77526 1.28989E-5 38763 0 NA
7-38468848-C-T p.Pro254Pro synonymous AMPH 1 77506 1.29022E-5 38753 0 2.22275E-5
7-38468849-G-A p.Pro254Leu missense AMPH 22 77484 2.8393E-4 38742 1 6.25E-4
7-38468851-C-T p.Ala253Ala synonymous AMPH 1 77454 1.29109E-5 38727 0 7.70891E-5
7-38468852-G-A p.Ala253Val missense AMPH 3 77448 3.87357E-5 38724 0 7.42016E-6
7-38468855-G-C p.Pro252Arg missense AMPH 2 77498 2.58071E-5 38749 0 7.41202E-6
7-38468857-C-T p.Lys251Lys synonymous AMPH 1 77494 1.29042E-5 38747 0 7.4151E-6
7-38468863-G-A p.Pro249Pro synonymous AMPH 1 77456 1.29106E-5 38728 0 7.73635E-5
7-38468866-C-T p.Leu248Leu synonymous AMPH 2 77464 2.58184E-5 38732 0 4.65188E-4
7-38468871-G-A p.Gln247* stop_gained AMPH 1 77454 1.29109E-5 38727 0 NA
7-38468872-T-C p.Glu246Glu synonymous AMPH 2 77472 2.58158E-5 38736 0 7.40587E-6
7-38468884-T-C p.Pro242Pro synonymous AMPH 1 77444 1.29126E-5 38722 0 NA
7-38468886-G-C p.Pro242Ala missense AMPH 17 77446 2.19508E-4 38723 0 1.59276E-4
7-38468895-GC-G p.Pro239fs frameshift AMPH 1 77458 1.29102E-5 38729 0 2.95552E-5
7-38468899-C-T p.Pro237Pro synonymous AMPH 7 77490 9.03342E-5 38745 0 7.65228E-5
7-38468900-G-A p.Pro237Leu missense AMPH 48 77494 6.19403E-4 38747 0 4.13089E-4
7-38468903-G-A p.Ala236Val missense AMPH 22 77496 2.83886E-4 38748 0 2.35745E-4
7-38468904-C-T p.Ala236Thr missense AMPH 24 77498 3.09685E-4 38749 0 4.45888E-4
7-38468912-C-T p.Ser233Asn missense AMPH 1 77528 1.28986E-5 38764 0 7.34689E-6
7-38468914-C-G p.Glu232Asp missense AMPH 1 77542 1.28962E-5 38771 0 NA
7-38468916-C-T p.Glu232Lys missense AMPH 1 77556 1.28939E-5 38778 0 NA
7-38468917-T-C p.Glu231Glu synonymous AMPH 1 77558 1.28936E-5 38779 0 7.33686E-6
7-38468932-CCAGTCAG-C p.Ala224fs frameshift AMPH 1 77570 1.28916E-5 38785 0 7.35089E-6
7-38468934-A-T p.Trp226Arg missense AMPH 1 77572 1.28912E-5 38786 0 2.19916E-5
7-38468937-C-G p.Asp225His missense AMPH 2 77566 2.57845E-5 38783 0 3.18431E-5
7-38468944-C-T p.Ser222Ser synonymous AMPH 7 77582 9.02271E-5 38791 0 7.33235E-5
7-38468945-G-A p.Ser222Leu missense AMPH 28 77588 3.60881E-4 38794 0 2.48942E-4
7-38468957-G-T p.Thr218Asn missense AMPH 1 77600 1.28866E-5 38800 0 NA
7-38468968-T-C p.Ile214Met missense AMPH 1 77616 1.28839E-5 38808 0 NA
7-38468970-T-C p.Ile214Val missense AMPH 4 77608 5.15411E-5 38804 0 0.00125
7-38468985-C-T p.Glu209Lys missense AMPH 2 77596 2.57745E-5 38798 0 3.64979E-5
7-38468989-G-A p.Pro207Pro synonymous AMPH 1 77600 1.28866E-5 38800 0 NA
7-38468997-C-T p.Ala205Thr missense AMPH 1 77590 1.28883E-5 38795 0 NA
7-38469007-T-A p.Gly201Gly synonymous AMPH 1 77592 1.28879E-5 38796 0 7.29533E-6
7-38469019-T-C p.Ser197Ser synonymous AMPH 3 77596 3.86618E-5 38798 0 6.36659E-5
7-38469039-C-A p.Val191Phe missense AMPH 22595 77392 0.291955 38696 3316 0.389375
7-38469042-T-C p.Arg190Gly missense AMPH 1 77580 1.28899E-5 38790 0 NA
7-38469054-C-T p.Ala186Thr missense AMPH 2 77570 2.57832E-5 38785 0 3.18431E-5
7-38469055-G-A p.Asp185Asp synonymous AMPH 15 77564 1.93389E-4 38782 0 5.83533E-5
7-38469061-G-A p.Gly183Gly synonymous AMPH 1 77550 1.28949E-5 38775 0 NA
7-38469064-C-T p.Trp182* stop_gained AMPH 4 77548 5.1581E-5 38774 0 5.10554E-5
7-38469081-T-C p.Ile177Val missense AMPH 1 77624 1.28826E-5 38812 0 7.2899E-6
7-38469086-TTTTGAGATC-T p.Arg172_Gln174del disruptive_inframe_deletion AMPH 1 77648 1.28786E-5 38824 0 NA
7-38469095-CT-C p.Arg172fs frameshift AMPH 3 77750 3.85852E-5 38875 0 3.18471E-5
7-38469101-AT-A p.Ile170fs frameshift AMPH 1 77846 1.28459E-5 38923 0 7.17052E-5
7-38469109-G-A p.Ala167Ala synonymous AMPH 2 77884 2.56792E-5 38942 0 2.91146E-5
7-38469110-G-A p.Ala167Val missense AMPH 1 77890 1.28386E-5 38945 0 7.28025E-6
7-38469111-C-T p.Ala167Thr missense AMPH 1 77908 1.28357E-5 38954 0 6.36983E-5
7-38469116-C-A p.Gly165Val missense AMPH 2 78020 2.56345E-5 39010 0 7.3014E-5
7-38469120-T-G p.Ser164Arg missense AMPH 1 78092 1.28054E-5 39046 0 9.55475E-5
7-38469145-G-T p.Asn155Lys missense AMPH 1 78604 1.2722E-5 39302 0 3.18532E-5
7-38469154-G-A p.Ser152Ser synonymous AMPH 1 78892 1.26756E-5 39446 0 NA
7-38469156-A-G p.Ser152Pro missense AMPH 34 78976 4.30511E-4 39488 0 0.00117842
7-38469161-CT-C p.Ser150fs frameshift AMPH 1 79094 1.26432E-5 39547 0 NA
7-38469176-G-C p.Thr145Ser missense+splice_region AMPH 1 79250 1.26183E-5 39625 0 NA
7-38469443-G-A p.Pro394Leu missense+splice_region AMPH 3 82944 3.6169E-5 41472 0 4.12868E-5
7-38469472-G-C c.1159-7C>G splice_region AMPH 1 82940 1.20569E-5 41470 0 NA
7-38471790-G-A p.Thr386Met missense+splice_region AMPH 8 83124 9.62418E-5 41562 0 5.03525E-4
7-38471805-G-A p.Pro381Leu missense AMPH 1 83150 1.20265E-5 41575 0 NA
7-38471812-T-A p.Thr379Ser missense+splice_region AMPH 2 83116 2.40628E-5 41558 0 2.47272E-5
7-38471815-GA-G c.1135-4delT splice_region AMPH 1 83094 1.20346E-5 41547 0 3.18512E-5
7-38475864-C-T c.1134+8G>A splice_region AMPH 1 83284 1.20071E-5 41642 0 NA
7-38475865-C-A c.1134+7G>T splice_region AMPH 1 83288 1.20065E-5 41644 0 NA
7-38475866-T-C c.1134+6A>G splice_region AMPH 1 83294 1.20057E-5 41647 0 NA
7-38475873-T-TGA p.Gln378fs frameshift AMPH 2 83310 2.40067E-5 41655 1 NA
7-38475874-G-C p.Gln378Glu missense+splice_region AMPH 2 83308 2.40073E-5 41654 0 1.64848E-5
7-38475878-C-G p.Met376Ile missense AMPH 1208 83310 0.0145001 41655 50 0.0264382
7-38475878-C-T p.Met376Ile missense AMPH 8 83324 9.60107E-5 41662 0 3.18532E-5
7-38475885-G-A p.Ser374Leu missense AMPH 1 83328 1.20008E-5 41664 0 8.24035E-6
7-38475888-T-C p.His373Arg missense AMPH 1 83336 1.19996E-5 41668 0 NA
7-38475913-G-T p.Pro365Thr missense AMPH 9 83360 1.07965E-4 41680 0 1.59256E-4
7-38475922-C-T p.Glu362Lys missense AMPH 1 83358 1.19964E-5 41679 0 1.64845E-5
7-38475923-G-A p.Pro361Pro synonymous AMPH 1 83356 1.19967E-5 41678 0 3.18674E-5
7-38475926-C-T p.Lys360Lys synonymous AMPH 1 83368 1.1995E-5 41684 0 2.38612E-5
7-38475934-G-C p.Pro358Ala missense AMPH 1 83374 1.19941E-5 41687 0 5.03525E-4
7-38475979-G-A p.Pro343Ser missense AMPH 1 83324 1.20013E-5 41662 0 NA
7-38475994-A-T c.1018-6T>A splice_region AMPH 1 83288 1.20065E-5 41644 0 8.28871E-6
7-38500878-C-G c.1017+5G>C splice_region AMPH 1 83194 1.20201E-5 41597 0 2.47166E-5
7-38500899-A-G p.Val334Ala missense AMPH 4 83268 4.80377E-5 41634 0 1.27389E-4
7-38500910-T-C p.Pro330Pro synonymous AMPH 7 83292 8.40417E-5 41646 0 4.81182E-4
7-38500927-C-T p.Glu325Lys missense AMPH 10 83306 1.20039E-4 41653 0 2.22845E-4
7-38500942-T-C p.Ile320Val missense AMPH 2 83304 2.40085E-5 41652 0 NA
7-38500945-TCTC-T p.Glu318del conservative_inframe_deletion AMPH 1 83308 1.20036E-5 41654 0 NA
7-38500957-G-C p.Leu315Val missense AMPH 4 83298 4.80204E-5 41649 0 2.47109E-5
7-38500957-G-A p.Leu315Leu synonymous AMPH 1 83298 1.20051E-5 41649 0 3.97678E-6
7-38500967-C-T p.Pro311Pro synonymous AMPH 2 83300 2.40096E-5 41650 0 2.38622E-5
7-38500979-A-C p.Pro307Pro synonymous AMPH 4 83296 4.80215E-5 41648 0 8.2371E-6
7-38500985-A-G p.Pro305Pro synonymous AMPH 7 83296 8.40377E-5 41648 0 2.14168E-4
7-38500987-G-T p.Pro305Thr missense AMPH 1 83292 1.2006E-5 41646 0 9.55171E-5
7-38500996-G-A p.Pro302Ser missense AMPH 8 83260 9.60846E-5 41630 0 5.03525E-4
7-38500999-G-T p.Pro301Thr missense AMPH 1 83252 1.20117E-5 41626 0 3.18451E-5
7-38502583-G-A p.Pro294Ser missense AMPH 3 82396 3.64095E-5 41198 0 1.27453E-4
7-38502584-T-C p.Ser293Ser synonymous AMPH 1 82378 1.21392E-5 41189 0 6.26566E-4
7-38502585-G-A p.Ser293Leu missense AMPH 1 82412 1.21342E-5 41206 0 NA
7-38502588-C-T p.Arg292Gln missense AMPH 2 82440 2.42601E-5 41220 0 1.79395E-5
7-38502593-C-T p.Arg290Arg synonymous AMPH 4 82596 4.84285E-5 41298 0 6.07249E-5
7-38502594-C-T p.Arg290Gln missense AMPH 1 82634 1.21016E-5 41317 0 9.55779E-5
7-38502595-G-A p.Arg290Trp missense AMPH 7 82648 8.46965E-5 41324 0 9.83486E-5
7-38502596-T-C p.Ala289Ala synonymous AMPH 7 82686 8.46576E-5 41343 0 5.07614E-4
7-38502598-C-G p.Ala289Pro missense AMPH 2 82690 2.41867E-5 41345 0 3.18613E-5
7-38502604-C-T p.Ala287Thr missense AMPH 2 82748 2.41698E-5 41374 0 3.18695E-5
7-38502605-G-A p.Pro286Pro synonymous AMPH 1 82764 1.20825E-5 41382 0 6.25E-4
7-38502607-G-C p.Pro286Ala missense AMPH 2 82806 2.41528E-5 41403 0 NA
7-38502611-C-T p.Ala284Ala synonymous AMPH 31 82852 3.74161E-4 41426 2 6.25E-4
7-38502614-A-C p.Pro283Pro synonymous AMPH 1 82958 1.20543E-5 41479 0 NA
7-38502617-T-C p.Ala282Ala synonymous AMPH 1 82990 1.20496E-5 41495 0 1.22128E-4
7-38502634-G-A p.Pro277Ser missense AMPH 87 83124 0.00104663 41562 0 8.92061E-4
7-38502637-T-C p.Ser276Gly missense AMPH 1 83142 1.20276E-5 41571 0 NA
7-38502644-C-T p.Pro273Pro synonymous AMPH 2 83158 2.40506E-5 41579 0 2.40589E-5
7-38502646-G-A p.Pro273Ser missense AMPH 1 83186 1.20213E-5 41593 0 NA
7-38502651-G-A p.Pro271Leu missense AMPH 2 83196 2.40396E-5 41598 0 1.59916E-5
7-38502655-G-T p.Leu270Ile missense AMPH 2 83224 2.40315E-5 41612 0 1.68722E-5
7-38502674-C-T p.Pro263Pro synonymous AMPH 1 83266 1.20097E-5 41633 0 5.04032E-4
7-38502677-T-C p.Ser262Ser synonymous AMPH 8 83258 9.60869E-5 41629 0 9.5645E-5
7-38502680-T-C p.Pro261Pro synonymous AMPH 1840 83206 0.0221138 41603 130 0.0516108
7-38502683-T-C p.Thr260Thr synonymous AMPH 21 83248 2.52258E-4 41624 0 3.18613E-4
7-38502686-C-T p.Lys259Lys synonymous AMPH 3 83244 3.60386E-5 41622 0 NA
7-38502691-C-T p.Ala258Thr missense AMPH 2 83234 2.40286E-5 41617 0 NA
7-38502692-A-G p.Ile257Ile synonymous AMPH 1 83246 1.20126E-5 41623 0 7.97906E-6
7-38502692-A-C p.Ile257Met missense AMPH 2 83246 2.40252E-5 41623 0 3.59058E-5
7-38502701-A-G p.Pro254Pro synonymous AMPH 1 83236 1.2014E-5 41618 0 NA
7-38502717-G-C c.750-4C>G splice_region AMPH 1 83172 1.20233E-5 41586 0 4.96796E-5
7-38502720-G-A c.750-7C>T splice_region AMPH 6 83158 7.21518E-5 41579 0 3.98349E-6
7-38505061-G-C c.749+6C>G splice_region AMPH 1 81494 1.22708E-5 40747 0 NA
7-38505068-T-C p.Ser250Gly missense+splice_region AMPH 1 81604 1.22543E-5 40802 0 NA
7-38505070-G-T p.Pro249His missense AMPH 1 81622 1.22516E-5 40811 0 NA
7-38505072-C-T p.Ala248Ala synonymous AMPH 3 81600 3.67647E-5 40800 0 6.84416E-5
7-38505073-G-A p.Ala248Val missense AMPH 5 81648 6.12385E-5 40824 0 6.7714E-5
7-38505102-G-A p.His238His synonymous AMPH 100 81790 0.00122264 40895 1 0.00262564
7-38505104-G-A p.His238Tyr missense AMPH 1 81784 1.22273E-5 40892 0 3.18532E-5
7-38505126-C-T p.Val230Val synonymous AMPH 1 81798 1.22252E-5 40899 0 NA
7-38505127-A-C p.Val230Gly missense AMPH 1 81774 1.22288E-5 40887 0 4.89558E-6
7-38505131-C-T p.Glu229Lys missense AMPH 3 81796 3.66766E-5 40898 0 5.57289E-5
7-38505138-T-C p.Lys226Lys synonymous AMPH 1 81784 1.22273E-5 40892 0 NA
7-38505139-T-C p.Lys226Arg missense AMPH 1 81786 1.2227E-5 40893 0 NA
7-38505773-C-T p.Val222Val splice_region+synonymous AMPH 2 83212 2.4035E-5 41606 0 5.06073E-4
7-38505776-C-T p.Ala221Ala synonymous AMPH 2 83224 2.40315E-5 41612 0 3.18431E-5
7-38505777-G-A p.Ala221Val missense AMPH 1 83224 1.20158E-5 41612 0 1.13946E-4
7-38505789-T-C p.His217Arg missense AMPH 4 83260 4.80423E-5 41630 0 6.3678E-5
7-38505799-C-T p.Ala214Thr missense AMPH 1 83282 1.20074E-5 41641 0 NA
7-38505814-C-A p.Val209Phe missense AMPH 5 83282 6.0037E-5 41641 0 1.6539E-5
7-38505814-C-T p.Val209Ile missense AMPH 5 83282 6.0037E-5 41641 0 2.23277E-4
7-38505815-G-A p.Asn208Asn synonymous AMPH 4 83284 4.80284E-5 41642 0 4.40874E-5
7-38505819-T-A p.Lys207Ile missense AMPH 30 83286 3.60205E-4 41643 2 6.25E-4
7-38505823-A-G p.Phe206Leu missense AMPH 1 83280 1.20077E-5 41640 0 8.63126E-6
7-38505824-A-T p.Thr205Thr synonymous AMPH 1 83284 1.20071E-5 41642 0 8.55234E-6
7-38505825-G-A p.Thr205Ile missense AMPH 1 83280 1.20077E-5 41640 0 NA
7-38505833-A-G p.Tyr202Tyr synonymous AMPH 5 83264 6.005E-5 41632 0 6.25E-4
7-38505838-A-C p.Phe201Val missense AMPH 1 83254 1.20114E-5 41627 0 5.82809E-5
7-38505855-T-C c.591-7A>G splice_region AMPH 1 83220 1.20163E-5 41610 0 4.19541E-5
7-38514966-A-G p.Val185Val synonymous AMPH 1 83036 1.2043E-5 41518 0 2.6024E-5
7-38514968-C-T p.Val185Ile missense AMPH 20 83022 2.409E-4 41511 0 0.003125
7-38514969-G-A p.Asn184Asn synonymous AMPH 23 83034 2.76995E-4 41517 0 8.32134E-4
7-38514984-C-T p.Val179Val synonymous AMPH 1 83034 1.20433E-5 41517 0 3.99151E-6
7-38514989-T-C p.Lys178Glu missense AMPH 1 83026 1.20444E-5 41513 0 4.79272E-5
7-38515007-C-A p.Glu172* stop_gained AMPH 1 82990 1.20496E-5 41495 0 3.18532E-5
7-38515019-A-G c.505-3T>C splice_region AMPH 3 82898 3.61891E-5 41449 0 8.03917E-6
7-38515024-T-C c.505-8A>G splice_region AMPH 17 82852 2.05185E-4 41426 0 6.05173E-4
7-38516456-C-G c.504+6G>C splice_region AMPH 1 82654 1.20986E-5 41327 0 NA
7-38516466-G-C p.Ser167Cys missense AMPH 1 82824 1.20738E-5 41412 0 8.25409E-6
7-38516472-C-T p.Arg165Gln missense AMPH 7 82890 8.44493E-5 41445 0 NA
7-38516476-T-C p.Ser164Gly missense AMPH 5 82940 6.02845E-5 41470 0 5.03525E-4
7-38516479-C-G p.Glu163Gln missense AMPH 1 82958 1.20543E-5 41479 0 3.58229E-5
7-38516507-T-C p.Glu153Glu synonymous AMPH 2 83084 2.4072E-5 41542 0 NA
7-38516520-C-T p.Arg149His missense AMPH 1 83080 1.20366E-5 41540 0 1.6487E-5
7-38516537-C-T p.Val143Val synonymous AMPH 5 83088 6.01772E-5 41544 0 2.47304E-5
7-38516542-G-A p.Leu142Leu synonymous AMPH 1 83094 1.20346E-5 41547 0 8.2447E-6
7-38516542-GCTT-G p.Lys141del conservative_inframe_deletion AMPH 1 83094 1.20346E-5 41547 0 NA
7-38516550-C-A p.Ser139Ile missense AMPH 1 83050 1.20409E-5 41525 0 NA
7-38516554-G-A p.Arg138Cys missense AMPH 1 83024 1.20447E-5 41512 0 3.98035E-6
7-38516561-G-A p.Ile135Ile synonymous AMPH 4 82974 4.82079E-5 41487 0 4.94886E-5
7-38516564-G-A p.Arg134Arg synonymous AMPH 1 82936 1.20575E-5 41468 0 NA
7-38530668-C-G p.Gly126Gly synonymous AMPH 1 82802 1.2077E-5 41401 0 3.18593E-5
7-38530683-C-T p.Leu121Leu synonymous AMPH 1 82898 1.2063E-5 41449 0 NA
7-38530689-T-G p.Leu119Leu synonymous AMPH 2 82914 2.41214E-5 41457 0 NA
7-38530691-G-T p.Leu119Ile missense AMPH 1 82928 1.20587E-5 41464 0 7.96527E-6
7-38530706-C-G p.Val114Leu missense AMPH 1 82888 1.20645E-5 41444 0 NA
7-38530707-G-A p.Leu113Leu synonymous AMPH 1 82884 1.20651E-5 41442 0 7.96724E-6
7-38530709-G-GT p.Leu113fs frameshift AMPH 1 82884 1.20651E-5 41442 0 8.24171E-6
7-38534027-T-A c.300+6A>T splice_region AMPH 168 83220 0.00201875 41610 1 0.004365
7-38534034-T-C p.Glu100Gly missense+splice_region AMPH 2 83240 2.40269E-5 41620 0 NA
7-38534058-C-T p.Arg92Gln missense AMPH 3 83256 3.60334E-5 41628 0 0.00100705
7-38534059-G-A p.Arg92Trp missense AMPH 2 83246 2.40252E-5 41623 0 1.64758E-5
7-38534084-T-C p.Glu83Glu synonymous AMPH 2 83170 2.40471E-5 41585 0 1.64764E-5
7-38534084-T-G p.Glu83Asp missense AMPH 1 83170 1.20236E-5 41585 0 NA
7-38534093-C-T p.Ser80Ser synonymous AMPH 1 83132 1.20291E-5 41566 0 6.25E-4
7-38534098-C-G p.Glu79Gln missense AMPH 1 83128 1.20296E-5 41564 0 NA
7-38534110-T-C p.Met75Val missense AMPH 6 83060 7.22369E-5 41530 0 3.18441E-5
7-38534119-C-T p.Glu72Lys missense AMPH 1 82990 1.20496E-5 41495 0 NA
7-38543243-A-C c.205+7T>G splice_region AMPH 1 83042 1.20421E-5 41521 0 3.98191E-6
7-38543278-T-C p.Glu59Glu synonymous AMPH 1 83116 1.20314E-5 41558 0 NA
7-38543282-C-T p.Arg58Gln missense AMPH 3 83094 3.61037E-5 41547 0 3.18593E-5
7-38543296-A-G p.Gly53Gly synonymous AMPH 1 83038 1.20427E-5 41519 0 NA
7-38543302-T-C p.Ala51Ala splice_region+synonymous AMPH 1 83038 1.20427E-5 41519 0 NA
7-38543303-G-A p.Ala51Val missense+splice_region AMPH 2 83018 2.40912E-5 41509 0 3.98298E-6
7-38574539-G-A p.Arg48Trp missense AMPH 93 82810 0.00112305 41405 1 0.0015121
7-38574543-G-A p.Phe46Phe synonymous AMPH 47 82874 5.67126E-4 41437 0 3.50383E-4
7-38574555-A-G p.Tyr42Tyr synonymous AMPH 1 82954 1.20549E-5 41477 0 3.18512E-5
7-38574568-T-A p.Gln38Leu missense AMPH 1 83016 1.20459E-5 41508 0 3.97937E-6
7-38574571-T-G p.Glu37Ala missense AMPH 1 83030 1.20438E-5 41515 0 3.97915E-6
7-38574573-G-A p.Asp36Asp synonymous AMPH 3 83032 3.61306E-5 41516 0 1.19391E-5
7-38574582-C-T p.Glu33Glu synonymous AMPH 1 83032 1.20435E-5 41516 0 8.25137E-6
7-38574586-T-A p.Asp32Val missense AMPH 1 83022 1.2045E-5 41511 0 1.19405E-5
7-38574616-T-G c.70-5A>C splice_region AMPH 2 82946 2.41121E-5 41473 0 6.37471E-5
7-38670884-T-A p.Lys23Met missense+splice_region AMPH 1 72206 1.38493E-5 36103 0 NA
7-38670892-C-T p.Ala20Ala synonymous AMPH 1 72738 1.3748E-5 36369 0 NA
7-38670892-C-A p.Ala20Ala synonymous AMPH 1 72738 1.3748E-5 36369 0 NA
7-38670899-T-C p.Asn18Ser missense AMPH 1 73096 1.36806E-5 36548 0 3.19918E-5
7-38670915-C-A p.Val13Phe missense AMPH 1 73842 1.35424E-5 36921 0 3.19244E-5
7-38670924-C-T p.Ala10Thr missense AMPH 4 73852 5.41624E-5 36926 2 1.07619E-4
7-38670928-G-A p.Ile8Ile synonymous AMPH 2 73994 2.70292E-5 36997 0 5.23341E-5
7-38670930-T-C p.Ile8Val missense AMPH 1 73904 1.35311E-5 36952 0 NA
7-38670935-G-C p.Thr6Arg missense AMPH 1 73782 1.35534E-5 36891 0 NA
7-38670991-G-A c.-40C>T 5_prime_UTR_premature_start_codon_gain AMPH 1 68128 1.46783E-5 34064 0 NA
7-38671010-G-A c.-59C>T 5_prime_UTR_premature_start_codon_gain AMPH 1 61790 1.61838E-5 30895 0 NA
7-38671049-C-A c.-98G>T 5_prime_UTR_premature_start_codon_gain AMPH 124 46928 0.00264235 23464 0 0.00192555
7-38671069-G-C c.-118C>G 5_prime_UTR_premature_start_codon_gain AMPH 1 41582 2.40489E-5 20791 0 NA
7-38671087-G-A c.-136C>T 5_prime_UTR_premature_start_codon_gain AMPH 1 36930 2.70783E-5 18465 0 NA
7-38671108-G-A c.-157C>T 5_prime_UTR_premature_start_codon_gain AMPH 1 31506 3.174E-5 15753 0 NA