Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-15240920-G-C p.Pro443Arg missense AGMO 2 82312 2.42978E-5 41156 0 6.36902E-5
7-15240922-G-A p.His442His synonymous AGMO 1 82354 1.21427E-5 41177 0 1.65303E-5
7-15240925-A-T p.Ser441Ser synonymous AGMO 1 82388 1.21377E-5 41194 0 3.9874E-6
7-15240929-G-A p.Thr440Ile missense AGMO 1 82392 1.21371E-5 41196 0 NA
7-15240933-G-GT p.Leu439fs frameshift AGMO 24 82356 2.91418E-4 41178 1 1.35563E-4
7-15240939-T-A p.Lys437* stop_gained AGMO 1 82420 1.2133E-5 41210 0 NA
7-15240952-T-A p.Gly432Gly synonymous AGMO 1 82404 1.21353E-5 41202 0 NA
7-15240953-C-T p.Gly432Glu missense AGMO 4 82398 4.85449E-5 41199 0 1.91351E-4
7-15240954-C-T p.Gly432Arg missense AGMO 2 82392 2.42742E-5 41196 0 7.98875E-6
7-15240966-T-C p.Ile428Val missense AGMO 12 82262 1.45875E-4 41131 0 6.39632E-5
7-15240972-T-C p.Ile426Val missense AGMO 7 82182 8.51768E-5 41091 0 1.33131E-4
7-15240980-A-AGATTT p.Val423fs frameshift AGMO 1 82062 1.21859E-5 41031 0 NA
7-15240982-A-C p.Ile422Met missense+splice_region AGMO 1 82016 1.21927E-5 41008 0 6.36821E-5
7-15240982-A-AAATATAATG p.Ile422_Val423insIleIlePhe disruptive_inframe_insertion AGMO 1 82016 1.21927E-5 41008 0 NA
7-15346083-T-A p.Ter87Cysext*? stop_lost AGMO 2 53438 3.74266E-5 26719 0 NA
7-15346085-A-C p.Ter87Glyext*? stop_lost AGMO 3 53440 5.61377E-5 26720 0 1.41681E-5
7-15346095-G-A p.Pro83Pro synonymous AGMO 2 53456 3.74139E-5 26728 1 NA
7-15346105-C-T p.Gly80Glu missense AGMO 1 53450 1.87091E-5 26725 0 3.20143E-5
7-15346106-C-T p.Gly80Arg missense AGMO 2 53448 3.74195E-5 26724 1 NA
7-15346109-C-A p.Ala79Ser missense AGMO 2 53442 3.74237E-5 26721 0 1.6001E-4
7-15346115-G-C p.Leu77Val missense AGMO 3 53430 5.61482E-5 26715 0 5.42103E-4
7-15346125-C-G p.Leu73Phe missense AGMO 1 53420 1.87196E-5 26710 0 NA
7-15346133-A-G p.Leu71Leu synonymous AGMO 6 53414 1.1233E-4 26707 0 6.73446E-5
7-15346139-C-T p.Glu69Lys missense AGMO 10 53392 1.87294E-4 26696 0 0.00105911
7-15346170-T-G p.Glu58Asp missense AGMO 1 53308 1.87589E-5 26654 0 1.36879E-5
7-15346178-TAA-T p.Val55fs frameshift AGMO 2 53224 3.7577E-5 26612 0 NA
7-15346181-C-G p.Val55Leu missense AGMO 4 53220 7.51597E-5 26610 0 2.5626E-4
7-15346181-C-T p.Val55Ile missense AGMO 1 53216 1.87913E-5 26608 0 NA
7-15346187-A-G p.Tyr53His missense AGMO 2 53170 3.76152E-5 26585 0 6.40615E-5
7-15346191-CTG-C c.154-3_154-2delCA splice_acceptor AGMO 11 53096 2.07172E-4 26548 0 3.00583E-4
7-15346194-T-C c.154-4A>G splice_region AGMO 2 52912 3.77986E-5 26456 0 1.58253E-5
7-15346194-T-G c.154-4A>C splice_region AGMO 1 52912 1.88993E-5 26456 0 NA
7-15346196-T-TA c.154-7_154-6insT splice_region AGMO 25470 49234 0.517325 24617 2432 0.77929
7-15346196-T-TAA c.154-7_154-6insTT splice_region AGMO 603 52822 0.0114157 26411 1 0.0240214
7-15346196-TA-T c.154-7delT splice_region AGMO 35 51720 6.76721E-4 25860 0 0.0315926
7-15346196-T-TAAA c.154-7_154-6insTTT splice_region AGMO 2 52832 3.78558E-5 26416 0 3.1481E-4
7-15346196-T-TAAAA c.154-7_154-6insTTTT splice_region AGMO 1 52832 1.89279E-5 26416 0 1.10668E-4
7-15397839-T-C c.*196A>G splice_region AGMO 1 37894 2.63894E-5 18947 0 NA
7-15397841-G-A c.*194C>T splice_region AGMO 1 38494 2.59781E-5 19247 0 NA
7-15398040-T-C p.Ile74Val missense AGMO 54 53546 0.00100848 26773 1 0.00194329
7-15398051-G-A p.Ser70Phe missense AGMO 1 53554 1.86727E-5 26777 0 1.32829E-5
7-15398051-G-C p.Ser70Cys missense AGMO 1 53554 1.86727E-5 26777 0 6.64143E-6
7-15398064-G-T p.Pro66Thr missense AGMO 1 53552 1.86734E-5 26776 0 9.55353E-5
7-15398066-G-A p.Thr65Ile missense AGMO 2 53544 3.73525E-5 26772 0 NA
7-15398066-G-GTT p.Thr65fs frameshift AGMO 1 53544 1.86762E-5 26772 0 NA
7-15398076-G-A c.190-6C>T splice_region AGMO 2 53536 3.7358E-5 26768 0 0.00125
7-15398076-G-C c.190-6C>G splice_region AGMO 2 53536 3.7358E-5 26768 0 NA
7-15398077-G-A c.190-7C>T splice_region AGMO 1 53536 1.8679E-5 26768 0 6.37227E-5
7-15398078-G-C c.190-8C>G splice_region AGMO 3 53536 5.60371E-5 26768 0 8.6632E-5
7-15398078-G-A c.190-8C>T splice_region AGMO 1 53536 1.8679E-5 26768 0 1.9992E-5
7-15405130-AT-A c.1263+8delA splice_region AGMO 12 82118 1.46131E-4 41059 0 3.82848E-4
7-15405132-G-A c.1263+7C>T splice_region AGMO 2 82170 2.43398E-5 41085 0 NA
7-15405136-T-TAC c.1263+2_1263+3insGT splice_donor AGMO 1 82274 1.21545E-5 41137 0 NA
7-15405137-A-AC c.1263+1_1263+2insG splice_donor AGMO 2 82282 2.43067E-5 41141 0 8.52094E-5
7-15405145-A-C p.Ala419Ala synonymous AGMO 12 82478 1.45493E-4 41239 0 9.27268E-5
7-15405146-G-A p.Ala419Val missense AGMO 1 82500 1.21212E-5 41250 0 1.6843E-5
7-15405147-C-T p.Ala419Thr missense AGMO 1 82514 1.21192E-5 41257 0 3.19142E-5
7-15405149-G-A p.Ser418Phe missense AGMO 1 82564 1.21118E-5 41282 0 3.9902E-6
7-15405150-A-G p.Ser418Pro missense AGMO 13 82574 1.57435E-4 41287 0 9.23733E-5
7-15405158-G-C p.Ser415* stop_gained AGMO 1 82684 1.20942E-5 41342 0 NA
7-15405161-G-C p.Pro414Arg missense AGMO 3 82708 3.62722E-5 41354 0 9.57243E-5
7-15405162-G-A p.Pro414Ser missense AGMO 2 82698 2.41844E-5 41349 0 6.38447E-5
7-15405164-A-T p.Val413Asp missense AGMO 2 82714 2.41797E-5 41357 0 NA
7-15405170-G-C p.Pro411Arg missense AGMO 2 82734 2.41739E-5 41367 0 0.00114921
7-15405170-G-A p.Pro411Leu missense AGMO 6 82734 7.25216E-5 41367 0 4.14991E-4
7-15405171-G-C p.Pro411Ala missense AGMO 1 82730 1.20875E-5 41365 0 3.98438E-6
7-15405177-G-T p.Leu409Met missense AGMO 1 82752 1.20843E-5 41376 0 NA
7-15405178-G-A p.His408His synonymous AGMO 5 82760 6.04157E-5 41380 0 1.35474E-4
7-15405181-A-C p.Gly407Gly synonymous AGMO 104 82724 0.00125719 41362 0 0.00453172
7-15405188-C-T p.Arg405Gln missense AGMO 19 82672 2.29824E-4 41336 0 0.001875
7-15405189-G-A p.Arg405* stop_gained AGMO 57 82652 6.89638E-4 41326 1 0.00100705
7-15405191-T-G p.Tyr404Ser missense AGMO 2 82684 2.41885E-5 41342 0 3.98464E-6
7-15405193-C-T p.Leu403Leu synonymous AGMO 2 82686 2.41879E-5 41343 0 1.66293E-5
7-15405197-A-G p.Met402Thr missense AGMO 2 82696 2.4185E-5 41348 0 1.66312E-5
7-15405200-A-G p.Leu401Ser missense AGMO 1 82684 1.20942E-5 41342 0 3.98483E-6
7-15405202-G-A p.Phe400Phe synonymous AGMO 1 82680 1.20948E-5 41340 0 NA
7-15405212-C-T p.Cys397Tyr missense AGMO 1 82638 1.2101E-5 41319 0 NA
7-15405215-C-T p.Arg396His missense AGMO 1 82584 1.21089E-5 41292 0 3.98781E-5
7-15405216-G-A p.Arg396Cys missense AGMO 20 82564 2.42236E-4 41282 0 9.13238E-4
7-15405218-A-G p.Leu395Pro missense AGMO 1 82592 1.21077E-5 41296 0 3.19244E-5
7-15405219-G-C p.Leu395Val missense AGMO 73 82586 8.83927E-4 41293 0 0.00210782
7-15405221-G-C p.Thr394Ser missense AGMO 3 82564 3.63354E-5 41282 0 0.00100705
7-15405227-A-AT p.Met392fs frameshift AGMO 2 82534 2.42324E-5 41267 0 3.19122E-5
7-15405227-A-G p.Met392Thr missense AGMO 1 82534 1.21162E-5 41267 0 6.38244E-5
7-15405228-T-C p.Met392Val missense AGMO 1 82532 1.21165E-5 41266 0 NA
7-15405233-G-C p.Ala390Gly missense AGMO 1 82470 1.21256E-5 41235 0 8.41949E-6
7-15405239-T-C p.Lys388Arg missense AGMO 1 82384 1.21383E-5 41192 0 1.11861E-4
7-15405241-G-A p.Pro387Pro synonymous AGMO 1 82352 1.2143E-5 41176 0 3.59965E-5
7-15405243-G-A p.Pro387Ser missense+splice_region AGMO 2 82276 2.43084E-5 41138 0 3.19366E-5
7-15405246-T-G c.1158-2A>C splice_acceptor AGMO 1 82200 1.21655E-5 41100 0 NA
7-15405248-A-T c.1158-4T>A splice_region AGMO 2 82162 2.43422E-5 41081 0 6.38325E-5
7-15405757-C-T c.1157+8G>A splice_region AGMO 4 82286 4.86109E-5 41143 0 3.18573E-5
7-15405763-G-C c.1157+2C>G splice_donor AGMO 1 82380 1.21389E-5 41190 0 NA
7-15405764-C-A c.1157+1G>T splice_donor AGMO 1 82370 1.21403E-5 41185 0 NA
7-15405775-G-C p.Leu383Val missense AGMO 1 82488 1.2123E-5 41244 0 NA
7-15405785-A-C p.Ile379Met missense AGMO 3 82524 3.63531E-5 41262 0 6.36983E-5
7-15405786-A-G p.Ile379Thr missense AGMO 8 82518 9.69485E-5 41259 0 4.53237E-5
7-15405787-T-C p.Ile379Val missense AGMO 1 82518 1.21186E-5 41259 0 3.18593E-5
7-15405788-G-T p.Ser378Ser synonymous AGMO 1 82526 1.21174E-5 41263 0 0.00201613
7-15405792-G-A p.Thr377Ile missense AGMO 1 82546 1.21145E-5 41273 0 NA
7-15405802-G-C p.Leu374Val missense AGMO 2 82568 2.42225E-5 41284 0 3.18593E-5
7-15405808-T-C p.Ile372Val missense AGMO 5 82600 6.05327E-5 41300 0 1.19257E-4
7-15405811-A-C p.Phe371Val missense AGMO 64 82588 7.74931E-4 41294 0 5.25745E-4
7-15405821-CAGA-C p.Leu367del disruptive_inframe_deletion AGMO 4 82538 4.84625E-5 41269 0 5.03525E-4
7-15405823-G-C p.Leu367Val missense AGMO 16 82512 1.93911E-4 41256 0 9.52744E-4
7-15405823-G-A p.Leu367Leu synonymous AGMO 4 82514 4.84766E-5 41257 0 NA
7-15405830-A-G p.Thr364Thr synonymous AGMO 2 82444 2.42589E-5 41222 0 6.25E-4
7-15405831-G-A p.Thr364Ile missense AGMO 1 82428 1.21318E-5 41214 0 NA
7-15405836-T-A p.Gln362His missense AGMO 1 82396 1.21365E-5 41198 0 3.18593E-5
7-15405839-C-G p.Ser361Ser synonymous AGMO 1 82318 1.2148E-5 41159 0 NA
7-15405840-G-A p.Ser361Leu missense AGMO 7 82332 8.50216E-5 41166 0 0.00100705
7-15405840-G-C p.Ser361Trp missense AGMO 1 82332 1.21459E-5 41166 0 NA
7-15405847-C-T p.Ala359Thr missense+splice_region AGMO 1 82236 1.21601E-5 41118 0 3.18695E-5
7-15405853-A-C c.1075-6T>G splice_region AGMO 7 82142 8.52183E-5 41071 0 8.8648E-5
7-15425071-A-G p.Ala358Ala splice_region+synonymous AGMO 1 81854 1.22169E-5 40927 0 6.36943E-5
7-15425075-G-C p.Thr357Arg missense AGMO 1 81956 1.22017E-5 40978 0 8.24783E-6
7-15425075-G-A p.Thr357Ile missense AGMO 5 81956 6.10083E-5 40978 0 NA
7-15425076-T-A p.Thr357Ser missense AGMO 1 81962 1.22008E-5 40981 0 NA
7-15425078-T-A p.Asp356Val missense AGMO 4 82038 4.87579E-5 41019 0 9.55657E-5
7-15425079-C-G p.Asp356His missense AGMO 1 82062 1.21859E-5 41031 0 4.00022E-6
7-15425091-C-T p.Glu352Lys missense AGMO 4 82274 4.8618E-5 41137 0 3.18634E-5
7-15425096-T-C p.Tyr350Cys missense AGMO 11 82312 1.33638E-4 41156 0 4.14145E-4
7-15425097-A-C p.Tyr350Asp missense AGMO 1 82290 1.21521E-5 41145 0 NA
7-15425100-A-C p.Phe349Val missense AGMO 2 82364 2.42825E-5 41182 0 8.24198E-6
7-15425107-C-T p.Met346Ile missense AGMO 1 82380 1.21389E-5 41190 0 1.99297E-5
7-15425112-G-A p.Leu345Leu synonymous AGMO 1 82458 1.21274E-5 41229 0 8.24022E-6
7-15425113-A-G p.Ala344Ala synonymous AGMO 4 82478 4.84978E-5 41239 0 5.03525E-4
7-15425116-A-C p.Phe343Leu missense AGMO 1 82510 1.21197E-5 41255 0 3.98556E-6
7-15425120-T-C p.Gln342Arg missense AGMO 1 82526 1.21174E-5 41263 0 7.96495E-6
7-15425124-C-T p.Val341Ile missense AGMO 2 82542 2.42301E-5 41271 0 NA
7-15425127-CTG-C p.Thr339fs frameshift AGMO 9 82578 1.08988E-4 41289 0 9.55536E-5
7-15425128-T-G p.Thr339Thr synonymous AGMO 9 82600 1.08959E-4 41300 0 3.18471E-4
7-15425129-GTA-G p.Thr339fs frameshift AGMO 1 82582 1.21092E-5 41291 0 1.59322E-5
7-15425130-T-C p.Thr339Ala missense AGMO 3 82608 3.63161E-5 41304 0 NA
7-15425133-A-G p.Tyr338His missense AGMO 3 82600 3.63196E-5 41300 0 4.78175E-5
7-15425134-T-C p.Ile337Met missense AGMO 97 82596 0.00117439 41298 0 0.00324861
7-15425136-T-G p.Ile337Leu missense AGMO 7 82606 8.47396E-5 41303 0 2.23001E-4
7-15425137-C-A p.Lys336Asn missense AGMO 1 82634 1.21016E-5 41317 0 8.23968E-6
7-15425137-C-T p.Lys336Lys synonymous AGMO 2 82634 2.42031E-5 41317 0 NA
7-15425143-T-C p.Leu334Leu synonymous AGMO 2 82588 2.42166E-5 41294 0 NA
7-15425147-T-C p.Gln333Arg missense AGMO 1 82596 1.21071E-5 41298 0 2.47178E-5
7-15425155-A-T p.Ser330Ser synonymous AGMO 2 82532 2.4233E-5 41266 0 3.18492E-5
7-15425155-AGAT-A p.Ser330del disruptive_inframe_deletion AGMO 2 82532 2.4233E-5 41266 0 1.19522E-5
7-15425155-A-G p.Ser330Ser synonymous AGMO 1 82532 1.21165E-5 41266 0 NA
7-15425161-TGAG-T p.Phe327_Ser328delinsLeu disruptive_inframe_deletion AGMO 2 82484 2.42471E-5 41242 0 3.98416E-6
7-15425164-G-A p.Phe327Phe synonymous AGMO 1 82452 1.21283E-5 41226 0 NA
7-15425166-A-C p.Phe327Val missense AGMO 1 82454 1.2128E-5 41227 0 8.239E-6
7-15425168-G-A p.Pro326Leu missense AGMO 14 82400 1.69903E-4 41200 0 2.54842E-4
7-15425168-G-C p.Pro326Arg missense AGMO 1 82400 1.21359E-5 41200 0 6.37105E-5
7-15425169-G-A p.Pro326Ser missense AGMO 1 82390 1.21374E-5 41195 0 NA
7-15425172-C-G p.Val325Leu missense AGMO 2 82322 2.42948E-5 41161 0 NA
7-15425173-T-C p.Glu324Glu synonymous AGMO 1 82322 1.21474E-5 41161 0 3.99326E-6
7-15425180-C-T p.Gly322Asp missense AGMO 26 82148 3.16502E-4 41074 0 7.25163E-4
7-15425181-C-T p.Gly322Ser missense AGMO 2 82086 2.43647E-5 41043 0 9.55657E-5
7-15425182-G-A p.Thr321Thr synonymous AGMO 12 82024 1.46299E-4 41012 0 3.8236E-4
7-15425182-G-T p.Thr321Thr synonymous AGMO 1 82026 1.21913E-5 41013 0 5.03525E-4
7-15425183-G-T p.Thr321Asn missense AGMO 2 82016 2.43855E-5 41008 0 NA
7-15425185-G-A p.Val320Val splice_region+synonymous AGMO 1 81972 1.21993E-5 40986 0 NA
7-15425188-C-G c.958-1G>C splice_acceptor AGMO 6 81818 7.33335E-5 40909 0 9.55597E-5
7-15425193-G-A c.958-6C>T splice_region AGMO 1 81636 1.22495E-5 40818 0 NA
7-15427031-C-T p.Glu319Glu splice_region+synonymous AGMO 1 83252 1.20117E-5 41626 0 8.00224E-6
7-15427034-T-C p.Pro318Pro synonymous AGMO 1 83254 1.20114E-5 41627 0 NA
7-15427048-T-G p.Ser314Arg missense AGMO 1 83276 1.20083E-5 41638 0 4.00837E-6
7-15427062-G-C p.Pro309Arg missense AGMO 6 83276 7.20496E-5 41638 0 7.96134E-6
7-15427067-A-AC p.Lys308fs frameshift AGMO 6 83270 7.20548E-5 41635 0 7.16053E-5
7-15427068-C-A p.Gly307Val missense AGMO 2 83278 2.40159E-5 41639 0 3.97839E-6
7-15427072-G-C p.Pro306Ala missense AGMO 1 83286 1.20068E-5 41643 0 1.59108E-5
7-15427073-A-C p.Gly305Gly synonymous AGMO 1 83286 1.20068E-5 41643 0 1.64913E-5
7-15427082-C-T p.Pro302Pro synonymous AGMO 12 83292 1.44071E-4 41646 0 2.23001E-4
7-15427083-G-A p.Pro302Leu missense AGMO 9 83290 1.08056E-4 41645 0 7.55762E-5
7-15427093-A-T p.Phe299Ile missense AGMO 1 83290 1.20062E-5 41645 0 NA
7-15427093-A-G p.Phe299Leu missense AGMO 1 83290 1.20062E-5 41645 0 NA
7-15427098-A-G p.Val297Ala missense AGMO 1 83290 1.20062E-5 41645 0 8.25042E-6
7-15427110-T-C p.Asn293Ser missense AGMO 5 83276 6.00413E-5 41638 0 3.97772E-6
7-15427110-T-A p.Asn293Ile missense AGMO 1 83276 1.20083E-5 41638 0 NA
7-15427127-G-A p.Ala287Ala synonymous AGMO 1 83226 1.20155E-5 41613 0 6.37389E-5
7-15427128-G-T p.Ala287Asp missense AGMO 1 83234 1.20143E-5 41617 0 NA
7-15427136-T-C p.Thr284Thr synonymous AGMO 1 83248 1.20123E-5 41624 0 3.98099E-6
7-15427137-G-A p.Thr284Ile missense AGMO 10 83238 1.20137E-4 41619 0 5.86728E-4
7-15427145-T-TA p.Trp282fs frameshift AGMO 28 83216 3.36474E-4 41608 0 3.83215E-4
7-15427147-T-C p.Ile281Val missense AGMO 5 83214 6.0086E-5 41607 0 0.00375469
7-15427148-G-A p.Ser280Ser synonymous AGMO 7 83198 8.41366E-5 41599 0 2.88554E-4
7-15427149-G-T p.Ser280Tyr missense AGMO 1327 83126 0.0159637 41563 54 0.0332031
7-15427153-A-G p.Phe279Leu missense AGMO 2963 83086 0.0356618 41543 295 0.0750543
7-15427157-G-A p.His277His synonymous AGMO 193 83178 0.00232033 41589 0 0.00570022
7-15427158-T-C p.His277Arg missense AGMO 1 83180 1.20221E-5 41590 0 3.24992E-5
7-15427160-A-G p.His276His synonymous AGMO 3 83174 3.6069E-5 41587 0 8.11939E-6
7-15427169-G-C c.823-4C>G splice_region AGMO 1 83094 1.20346E-5 41547 0 3.40878E-5
7-15427173-C-T c.823-8G>A splice_region AGMO 2 83002 2.40958E-5 41501 0 1.70366E-5
7-15430292-T-C c.822+4A>G splice_region AGMO 1 82112 1.21785E-5 41056 0 4.1579E-6
7-15430294-A-G c.822+2T>C splice_donor AGMO 12 82196 1.45993E-4 41098 0 8.25409E-5
7-15430295-C-A c.822+1G>T splice_donor AGMO 1 82164 1.21708E-5 41082 0 NA
7-15430297-T-C p.Gln274Arg missense+splice_region AGMO 2 82274 2.4309E-5 41137 0 8.2526E-6
7-15430302-TTTGA-T p.Ile271fs frameshift AGMO 1 82320 1.21477E-5 41160 0 NA
7-15430303-T-C p.Lys272Arg missense AGMO 1 82366 1.21409E-5 41183 0 3.26323E-5
7-15430305-G-C p.Ile271Met missense AGMO 1 82388 1.21377E-5 41194 0 4.059E-6
7-15430311-T-C p.Glu269Glu synonymous AGMO 1 82582 1.21092E-5 41291 0 NA
7-15430312-T-A p.Glu269Val missense AGMO 9 82588 1.08975E-4 41294 0 0.00151057
7-15430318-G-A p.Thr267Ile missense AGMO 1 82654 1.20986E-5 41327 0 8.24837E-6
7-15430328-G-C p.Pro264Ala missense AGMO 1 82714 1.20899E-5 41357 0 8.24837E-6
7-15430328-G-A p.Pro264Ser missense AGMO 1 82714 1.20899E-5 41357 0 3.18695E-5
7-15430335-T-G p.Leu261Phe missense AGMO 4 82736 4.83465E-5 41368 0 4.12473E-5
7-15430341-A-G p.Tyr259Tyr synonymous AGMO 1 82740 1.20861E-5 41370 0 2.79131E-5
7-15430342-T-C p.Tyr259Cys missense AGMO 3 82758 3.62503E-5 41379 0 7.42476E-5
7-15430346-C-G p.Val258Leu missense AGMO 1 82744 1.20855E-5 41372 0 NA
7-15430349-C-A p.Val257Phe missense AGMO 1 82726 1.20881E-5 41363 0 NA
7-15430349-C-T p.Val257Ile missense AGMO 1 82726 1.20881E-5 41363 0 NA
7-15430362-T-G p.Ala252Ala synonymous AGMO 1 82684 1.20942E-5 41342 0 NA
7-15430364-C-T p.Ala252Thr missense AGMO 1 82670 1.20963E-5 41335 0 NA
7-15430365-T-C p.Glu251Glu synonymous AGMO 1 82676 1.20954E-5 41338 0 NA
7-15430366-T-C p.Glu251Gly missense AGMO 1 82662 1.20975E-5 41331 0 NA
7-15430369-A-C p.Phe250Cys missense AGMO 1 82654 1.20986E-5 41327 0 1.19662E-5
7-15430372-G-A p.Thr249Ile missense AGMO 2 82660 2.41955E-5 41330 0 NA
7-15430373-T-C p.Thr249Ala missense+splice_region AGMO 1 82656 1.20983E-5 41328 0 3.18796E-5
7-15430374-C-T p.Gly248Gly splice_region+synonymous AGMO 1 82658 1.2098E-5 41329 0 3.18959E-5
7-15430376-C-T c.743-1G>A splice_acceptor AGMO 1 82652 1.20989E-5 41326 0 8.2545E-6
7-15430378-G-A c.743-3C>T splice_region AGMO 100 82610 0.00121051 41305 0 0.00245583
7-15430379-G-T c.743-4C>A splice_region AGMO 1 82616 1.21042E-5 41308 0 3.19142E-5
7-15430379-G-A c.743-4C>T splice_region AGMO 1 82616 1.21042E-5 41308 0 3.99278E-6
7-15430382-GATAAAT-G c.743-13_743-8delATTTAT splice_region AGMO 3 82618 3.63117E-5 41309 0 1.19863E-5
7-15430382-G-A c.743-7C>T splice_region AGMO 2 82618 2.42078E-5 41309 0 8.25791E-6
7-15430463-A-C c.742+2T>G splice_donor AGMO 1 82410 1.21345E-5 41205 0 NA
7-15430471-T-C p.Ile246Val missense AGMO 1 82382 1.21386E-5 41191 0 9.09554E-6
7-15430474-T-C p.Lys245Glu missense AGMO 1 82380 1.21389E-5 41190 0 4.05854E-6
7-15430480-AAAT-A p.Ile242del conservative_inframe_deletion AGMO 14 82380 1.69944E-4 41190 0 3.89336E-4
7-15430483-T-G p.Ile242Leu missense AGMO 4 82340 4.85791E-5 41170 0 1.62779E-5
7-15430485-A-ACTCTTTG p.Ile241fs frameshift AGMO 1 82366 1.21409E-5 41183 0 NA
7-15430485-A-C p.Ile241Ser missense AGMO 2 82366 2.42819E-5 41183 0 NA
7-15430486-TAAG-T p.Leu240del conservative_inframe_deletion AGMO 3 82352 3.6429E-5 41176 0 9.56999E-5
7-15430487-A-T p.Leu240Leu synonymous AGMO 1 82354 1.21427E-5 41177 0 NA
7-15430489-G-C p.Leu240Val missense AGMO 1 82360 1.21418E-5 41180 0 NA
7-15430492-C-T p.Val239Ile missense AGMO 1 82348 1.21436E-5 41174 0 NA
7-15430494-C-G p.Gly238Ala missense AGMO 14 82326 1.70056E-4 41163 0 1.22853E-5
7-15430494-C-T p.Gly238Asp missense AGMO 1 82326 1.21468E-5 41163 0 NA
7-15430495-C-A p.Gly238Cys missense AGMO 60 82330 7.28774E-4 41165 0 5.13728E-4
7-15430498-CATA-C p.Tyr236del conservative_inframe_deletion AGMO 29 82316 3.52301E-4 41158 0 2.87566E-4
7-15430501-A-G p.Tyr236His missense AGMO 1 82260 1.21566E-5 41130 0 4.10873E-6
7-15430503-T-C p.Asn235Ser missense AGMO 1 82266 1.21557E-5 41133 0 9.71308E-6
7-15430506-T-C p.Lys234Arg missense AGMO 60 82246 7.29519E-4 41123 1 0.00129534
7-15430508-G-C p.Asp233Glu missense AGMO 2 82228 2.43226E-5 41114 0 NA
7-15430510-C-T p.Asp233Asn missense AGMO 1 82228 1.21613E-5 41114 0 NA
7-15430510-C-G p.Asp233His missense AGMO 1 82228 1.21613E-5 41114 0 NA
7-15430516-A-T p.Cys231Ser missense AGMO 1 82202 1.21652E-5 41101 0 NA
7-15430521-C-T p.Arg229His missense AGMO 6 82046 7.31297E-5 41023 0 6.52742E-4
7-15430522-G-A p.Arg229Cys missense AGMO 2 82070 2.43694E-5 41035 0 4.22729E-6
7-15430522-G-C p.Arg229Gly missense AGMO 1 82070 1.21847E-5 41035 0 NA
7-15430531-CTA-C c.677-3_677-2delTA splice_acceptor AGMO 26 81934 3.17329E-4 40967 0 1.33511E-4
7-15430531-C-G c.677-1G>C splice_acceptor AGMO 4 81932 4.8821E-5 40966 0 1.3156E-5
7-15430534-T-C c.677-4A>G splice_region AGMO 1 81838 1.22193E-5 40919 0 NA
7-15430536-A-C c.677-6T>G splice_region AGMO 1 81756 1.22315E-5 40878 0 NA
7-15430537-G-A c.677-7C>T splice_region AGMO 2 81708 2.44774E-5 40854 0 3.52966E-5
7-15433730-T-G c.676+8A>C splice_region AGMO 1 82110 1.21788E-5 41055 0 NA
7-15433734-T-C c.676+4A>G splice_region AGMO 1 82188 1.21672E-5 41094 0 NA
7-15433739-A-G p.His225His splice_region+synonymous AGMO 1 82268 1.21554E-5 41134 0 8.27089E-6
7-15433743-T-G p.His224Pro missense AGMO 3 82318 3.6444E-5 41159 0 1.65377E-5
7-15433749-C-A p.Arg222Met missense AGMO 1 82368 1.21406E-5 41184 0 8.26323E-6
7-15433757-G-A p.Ser219Ser synonymous AGMO 5 82436 6.06531E-5 41218 0 1.99291E-5
7-15433761-G-A p.Pro218Leu missense AGMO 46 82420 5.58117E-4 41210 0 0.00117857
7-15433777-G-C p.Leu213Val missense AGMO 42 82446 5.09424E-4 41223 0 2.42974E-4
7-15433778-T-G p.Glu212Asp missense AGMO 1 82448 1.21289E-5 41224 0 NA
7-15433781-C-T p.Leu211Leu synonymous AGMO 1 82426 1.21321E-5 41213 0 7.17029E-5
7-15433786-G-A p.Pro210Ser missense AGMO 2 82418 2.42665E-5 41209 0 9.56389E-5
7-15433792-G-A p.Leu208Phe missense AGMO 4 82344 4.85767E-5 41172 0 1.65014E-5
7-15433793-G-A p.Asn207Asn synonymous AGMO 2 82340 2.42895E-5 41170 0 NA
7-15433797-T-C p.Asn206Ser missense AGMO 1 82304 1.21501E-5 41152 0 8.25014E-6
7-15433802-G-T p.Val204Val splice_region+synonymous AGMO 1 82270 1.21551E-5 41135 0 NA
7-15433804-C-G p.Val204Leu missense+splice_region AGMO 2 82216 2.43262E-5 41108 0 1.5944E-5
7-15433805-C-T c.610-1G>A splice_acceptor AGMO 2 82228 2.43226E-5 41114 0 3.993E-6
7-15433807-G-A c.610-3C>T splice_region AGMO 1 82188 1.21672E-5 41094 0 NA
7-15433812-A-C c.610-8T>G splice_region AGMO 7 82134 8.52266E-5 41067 0 1.91071E-4
7-15458180-T-G c.609+3A>C splice_region AGMO 5 81510 6.13422E-5 40755 0 1.31966E-5
7-15458186-T-C p.Thr202Thr synonymous AGMO 4541 81484 0.0557287 40742 183 0.0765358
7-15458189-A-G p.His201His synonymous AGMO 1 81546 1.2263E-5 40773 0 NA
7-15458192-G-A p.Ile200Ile synonymous AGMO 2 81788 2.44535E-5 40894 0 7.60958E-5
7-15458194-T-A p.Ile200Phe missense AGMO 138 81798 0.00168708 40899 2 0.00335228
7-15458207-A-G p.Leu195Leu synonymous AGMO 2 81882 2.44254E-5 40941 0 8.38068E-6
7-15458214-T-C p.Asn193Ser missense AGMO 1 81880 1.2213E-5 40940 0 8.81197E-6
7-15458216-G-T p.Phe192Leu missense AGMO 1 81912 1.22082E-5 40956 0 NA
7-15458219-T-C p.Gln191Gln synonymous AGMO 2 81942 2.44075E-5 40971 0 6.38203E-5
7-15458230-C-T p.Val188Ile missense AGMO 6 81888 7.32708E-5 40944 0 0.00255853
7-15458231-A-T p.Ala187Ala synonymous AGMO 1 81922 1.22067E-5 40961 0 9.07672E-6
7-15458234-A-C p.Tyr186* stop_gained AGMO 1 81888 1.22118E-5 40944 0 NA
7-15458245-G-C p.Pro183Ala missense AGMO 5 81796 6.11277E-5 40898 0 3.19244E-5
7-15458248-G-T p.Pro182Thr missense AGMO 1 81698 1.22402E-5 40849 0 NA
7-15458248-G-A p.Pro182Ser missense AGMO 1 81698 1.22402E-5 40849 0 9.39708E-6
7-15458253-A-C p.Phe180Cys missense AGMO 2 81670 2.44888E-5 40835 0 4.18753E-5
7-15458264-G-A p.Pro176Pro synonymous AGMO 6 81394 7.37155E-5 40697 0 2.23642E-4
7-15458266-G-A p.Pro176Ser missense AGMO 1 81386 1.22871E-5 40693 0 8.45609E-6
7-15458273-G-A p.Phe173Phe synonymous AGMO 7 81038 8.63792E-5 40519 0 0.0015121
7-15458285-G-GA c.514-8_514-7insT splice_region AGMO 2 80156 2.49513E-5 40078 0 9.51402E-6
7-15470630-C-T p.Trp171* stop_gained AGMO 2 81534 2.45296E-5 40767 0 1.66101E-5
7-15470637-G-C p.Thr169Ser missense AGMO 1 81976 1.21987E-5 40988 0 NA
7-15470641-A-G p.Tyr168His missense AGMO 1 82072 1.21844E-5 41036 0 NA
7-15470643-A-G p.Ile167Thr missense AGMO 1 82142 1.2174E-5 41071 0 NA
7-15470643-A-T p.Ile167Lys missense AGMO 1 82142 1.2174E-5 41071 0 NA
7-15470650-G-T p.Leu165Ile missense AGMO 2 82330 2.42925E-5 41165 0 NA
7-15470677-A-T p.Leu156Ile missense AGMO 4 82530 4.84672E-5 41265 0 1.27828E-4
7-15470682-T-C p.Tyr154Cys missense AGMO 1 82512 1.21194E-5 41256 0 3.19326E-5
7-15470685-T-C p.Asp153Gly missense AGMO 1 82480 1.21242E-5 41240 0 7.98569E-6
7-15470690-A-C p.Ser151Ser synonymous AGMO 1 82500 1.21212E-5 41250 0 NA
7-15470713-C-T p.Gly144Arg missense AGMO 36 82348 4.37169E-4 41174 0 0.00100705
7-15470714-G-A p.Ala143Ala synonymous AGMO 235 82310 0.00285506 41155 1 0.00460771
7-15470717-C-A p.Trp142Cys missense AGMO 8 82300 9.72053E-5 41150 0 5.03525E-4
7-15470724-A-G p.Ile140Thr missense AGMO 2 82206 2.43291E-5 41103 0 8.2646E-6
7-15470732-T-C p.Glu137Glu splice_region+synonymous AGMO 1 82028 1.2191E-5 41014 0 NA
7-15470736-G-T c.410-3C>A splice_region AGMO 2 81876 2.44272E-5 40938 0 6.40328E-5
7-15584408-C-T p.Arg133His missense AGMO 1 82792 1.20785E-5 41396 0 8.30317E-6
7-15584409-G-A p.Arg133Cys missense AGMO 22 82794 2.6572E-4 41397 0 7.32998E-4
7-15584414-A-C p.Phe131Cys missense AGMO 1 82946 1.2056E-5 41473 0 8.27993E-5
7-15584415-A-G p.Phe131Leu missense AGMO 2 82952 2.41103E-5 41476 0 3.18492E-5
7-15584416-C-A p.Trp130Cys missense AGMO 1 82950 1.20555E-5 41475 0 NA
7-15584417-C-T p.Trp130* stop_gained AGMO 3 82960 3.6162E-5 41480 0 4.11496E-6
7-15584419-G-C p.Tyr129* stop_gained AGMO 1 83000 1.20482E-5 41500 0 NA
7-15584431-G-C p.Asp125Glu missense AGMO 2 83038 2.40854E-5 41519 0 2.83458E-5
7-15584436-C-T p.Val124Ile missense AGMO 1 83092 1.20349E-5 41546 0 NA
7-15584439-C-T p.Gly123Arg missense AGMO 1 83108 1.20325E-5 41554 0 1.60825E-5
7-15584442-A-G p.Leu122Leu synonymous AGMO 1 83124 1.20302E-5 41562 0 NA
7-15584456-CA-C p.Trp117fs frameshift AGMO 2 83102 2.40668E-5 41551 0 NA
7-15584460-T-C p.Thr116Ala missense AGMO 1 83104 1.20331E-5 41552 0 NA
7-15584477-G-A p.Pro110Leu missense AGMO 1 83108 1.20325E-5 41554 0 NA
7-15584483-T-C p.Asn108Ser missense AGMO 3 83096 3.61028E-5 41548 0 1.61128E-5
7-15584487-A-G p.Phe107Leu missense AGMO 5 83086 6.01786E-5 41543 0 1.0722E-4
7-15584489-AG-A p.Leu106fs frameshift AGMO 1 83090 1.20351E-5 41545 0 NA
7-15584490-G-C p.Leu106Val missense AGMO 1 83070 1.2038E-5 41535 0 4.06931E-6
7-15584491-C-A p.Arg105Ser missense AGMO 1 83062 1.20392E-5 41531 0 NA
7-15584499-T-C p.Asn103Asp missense AGMO 1 82892 1.20639E-5 41446 0 NA
7-15584513-A-C p.Ile98Ser missense AGMO 1 82724 1.20884E-5 41362 0 NA
7-15584547-G-T p.Leu87Ile missense+splice_region AGMO 1 80884 1.23634E-5 40442 0 6.37836E-5
7-15584550-T-A c.258-2A>T splice_acceptor AGMO 4 80778 4.95184E-5 40389 0 9.97307E-6
7-15599767-T-C p.Ser86Gly missense+splice_region AGMO 6 83070 7.22282E-5 41535 0 3.18492E-5
7-15599775-C-T p.Arg83Gln missense AGMO 2 83122 2.4061E-5 41561 0 6.37146E-5
7-15599776-G-A p.Arg83* stop_gained AGMO 2 83124 2.40604E-5 41562 0 5.03525E-4
7-15599785-C-T p.Val80Ile missense AGMO 2 83208 2.40361E-5 41604 0 8.26528E-6
7-15599787-C-T p.Gly79Asp missense AGMO 2 83208 2.40361E-5 41604 0 3.18492E-5
7-15599789-A-G p.Ala78Ala synonymous AGMO 1 83204 1.20187E-5 41602 0 NA
7-15599801-C-T p.Thr74Thr synonymous AGMO 2 83198 2.4039E-5 41599 0 3.18613E-5
7-15599807-A-G p.Ala72Ala synonymous AGMO 2 83216 2.40338E-5 41608 0 1.19456E-5
7-15599815-C-T p.Asp70Asn missense AGMO 1 83190 1.20207E-5 41595 0 3.98184E-6
7-15599820-C-T p.Arg68His missense AGMO 5 83166 6.01207E-5 41583 0 1.27389E-4
7-15599821-G-C p.Arg68Gly missense AGMO 1 83174 1.2023E-5 41587 0 NA
7-15599842-G-C p.Leu61Val missense AGMO 2 83210 2.40356E-5 41605 0 NA
7-15599847-C-T p.Trp59* stop_gained AGMO 1 83194 1.20201E-5 41597 0 NA
7-15599853-A-G p.Val57Ala missense AGMO 2 83198 2.4039E-5 41599 0 NA
7-15599857-C-G p.Val56Leu missense AGMO 3 83212 3.60525E-5 41606 0 NA
7-15599863-C-G p.Glu54Gln missense AGMO 34 83204 4.08634E-4 41602 0 0.00151057
7-15599875-A-T p.Leu50Met missense AGMO 1 83202 1.20189E-5 41601 0 9.55353E-5
7-15599888-T-C p.Pro45Pro synonymous AGMO 6 83178 7.21345E-5 41589 0 7.99252E-6
7-15599889-G-C p.Pro45Arg missense AGMO 3 83170 3.60707E-5 41585 0 NA
7-15599900-GA-G c.127-5delT splice_region AGMO 1 83150 1.20265E-5 41575 0 NA
7-15599902-A-C c.127-6T>G splice_region AGMO 1 83142 1.20276E-5 41571 0 1.66085E-5
7-15601338-G-A c.126+7C>T splice_region AGMO 1 82636 1.21013E-5 41318 0 NA
7-15601351-T-C p.Val40Val synonymous AGMO 1 82788 1.2079E-5 41394 0 8.30565E-6
7-15601354-A-C p.Tyr39* stop_gained AGMO 1 82834 1.20723E-5 41417 0 4.0825E-6
7-15601364-A-G p.Val36Ala missense AGMO 1 82964 1.20534E-5 41482 0 NA
7-15601365-CCT-C p.Glu35fs frameshift AGMO 1 82952 1.20552E-5 41476 0 3.1841E-5
7-15601368-C-G p.Glu35Gln missense AGMO 8 83092 9.62788E-5 41546 0 5.04032E-4
7-15601371-C-G p.Glu34Gln missense AGMO 1 83110 1.20322E-5 41555 0 3.1837E-5
7-15601379-T-C p.Gln31Arg missense AGMO 65 83138 7.81833E-4 41569 0 0.00181506
7-15601381-G-A p.Phe30Phe synonymous AGMO 3 83144 3.6082E-5 41572 0 1.60127E-5
7-15601390-T-A p.Glu27Asp missense AGMO 2 83174 2.4046E-5 41587 0 NA
7-15601393-A-G p.Ser26Ser synonymous AGMO 1361 83130 0.0163719 41565 65 0.0357143
7-15601398-G-T p.Pro25Thr missense AGMO 1 83182 1.20218E-5 41591 0 NA
7-15601405-C-T p.Thr22Thr synonymous AGMO 1 83214 1.20172E-5 41607 0 2.4757E-5
7-15601409-T-TAA p.Tyr21fs frameshift AGMO 331 83248 0.00397607 41624 1 0.00582914
7-15601422-G-A p.Arg17Cys missense AGMO 6 83222 7.20963E-5 41611 0 0.00125
7-15601423-A-G p.Phe16Phe synonymous AGMO 1 83238 1.20137E-5 41619 0 NA
7-15601428-C-G p.Gly15Arg missense AGMO 6 83226 7.20929E-5 41613 0 2.00607E-5
7-15601431-G-A p.Gln14* stop_gained AGMO 1 83228 1.20152E-5 41614 0 8.02034E-6
7-15601438-T-G p.Ser11Ser synonymous AGMO 22 83202 2.64417E-4 41601 0 2.32993E-4
7-15601445-T-A p.Asp9Val missense AGMO 448 83208 0.0053841 41604 5 0.0134076
7-15601446-C-A p.Asp9Tyr missense AGMO 2 83214 2.40344E-5 41607 0 8.28377E-6
7-15601449-G-C p.Gln8Glu missense AGMO 497 83178 0.00597514 41589 12 0.0125478
7-15601450-C-T p.Gln7Gln synonymous AGMO 1 83196 1.20198E-5 41598 0 NA
7-15601455-C-G p.Ala6Pro missense AGMO 1 83178 1.20224E-5 41589 0 3.1841E-5
7-15601455-C-T p.Ala6Thr missense AGMO 1 83178 1.20224E-5 41589 0 NA
7-15601462-G-A p.Asn3Asn synonymous AGMO 2 83174 2.4046E-5 41587 0 5.00642E-5
7-15601468-C-A p.Met1? start_lost AGMO 1 83098 1.2034E-5 41549 0 NA
7-15601495-T-A c.-25A>T 5_prime_UTR_premature_start_codon_gain AGMO 1 82786 1.20793E-5 41393 0 NA
7-15601539-A-T c.-69T>A 5_prime_UTR_premature_start_codon_gain AGMO 2 81088 2.46646E-5 40544 0 NA
7-15601547-G-A c.-77C>T 5_prime_UTR_premature_start_codon_gain AGMO 3 80590 3.72255E-5 40295 0 NA
7-15601605-T-A c.-135A>T 5_prime_UTR_premature_start_codon_gain AGMO 1 70062 1.42731E-5 35031 0 NA
7-15601625-G-A c.-155C>T 5_prime_UTR_premature_start_codon_gain AGMO 3 64332 4.66331E-5 32166 0 NA