Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-100468180-TA-T c.*1158delT splice_region ABI3BP 773 44756 0.0172714 22378 24 0.0476554
3-100468180-T-TA c.*1158dupT splice_region ABI3BP 129 44752 0.00288255 22376 2 0.00335673
3-100468180-T-TAAAAA c.*1154_*1158dupTTTTT splice_region ABI3BP 2 44772 4.46708E-5 22386 0 NA
3-100469339-C-T p.Ter1076Ter stop_retained ABI3BP 6 82048 7.31279E-5 41024 0 4.04672E-6
3-100469355-A-C p.Ile1071Ser missense ABI3BP 1 82212 1.21637E-5 41106 0 NA
3-100469358-G-A p.Thr1070Ile missense ABI3BP 2 82238 2.43197E-5 41119 0 4.03642E-6
3-100469363-C-A p.Gly1068Gly synonymous ABI3BP 1 82264 1.2156E-5 41132 0 NA
3-100469391-AT-A p.Ile1059fs frameshift ABI3BP 1 82292 1.21518E-5 41146 0 NA
3-100469395-G-C p.Gln1058Glu missense ABI3BP 1 82270 1.21551E-5 41135 0 NA
3-100469408-T-C p.Ile1053Met missense ABI3BP 2 82228 2.43226E-5 41114 0 NA
3-100469421-T-C p.Gln1049Arg missense ABI3BP 18 82070 2.19325E-4 41035 0 0.001875
3-100469436-C-T p.Arg1044His missense ABI3BP 2 81808 2.44475E-5 40904 0 1.61443E-5
3-100469437-G-A p.Arg1044Cys missense ABI3BP 2 81796 2.44511E-5 40898 0 NA
3-100469446-T-A p.Arg1041* stop_gained ABI3BP 1 81668 1.22447E-5 40834 0 NA
3-100470388-A-G c.3112+8T>C splice_region ABI3BP 1 82316 1.21483E-5 41158 0 NA
3-100470390-A-C c.3112+6T>G splice_region ABI3BP 2 82334 2.42913E-5 41167 0 3.18471E-5
3-100470401-T-A p.Lys1036Ile missense ABI3BP 2 82430 2.4263E-5 41215 0 9.52708E-5
3-100470415-G-T p.Asp1031Glu missense ABI3BP 1 82602 1.21062E-5 41301 0 NA
3-100470417-C-T p.Asp1031Asn missense ABI3BP 3 82596 3.63214E-5 41298 0 3.18593E-5
3-100470419-G-A p.Ser1030Phe missense ABI3BP 1 82590 1.2108E-5 41295 0 NA
3-100470428-T-C p.Gln1027Arg missense ABI3BP 2 82632 2.42037E-5 41316 0 NA
3-100470440-C-T p.Arg1023His missense ABI3BP 1 82606 1.21057E-5 41303 0 3.08974E-5
3-100470449-A-G p.Leu1020Ser missense ABI3BP 1 82646 1.20998E-5 41323 0 3.18512E-5
3-100470454-T-G p.Ser1018Ser synonymous ABI3BP 1 82646 1.20998E-5 41323 0 3.1839E-5
3-100470457-A-G p.Asp1017Asp synonymous ABI3BP 1 82624 1.2103E-5 41312 0 NA
3-100470461-A-G p.Val1016Ala missense ABI3BP 2 82628 2.42049E-5 41314 0 1.894E-4
3-100470469-G-A p.Cys1013Cys synonymous ABI3BP 2 82594 2.42148E-5 41297 0 NA
3-100470493-C-G p.Gln1005His missense ABI3BP 2 82618 2.42078E-5 41309 0 4.24704E-6
3-100470509-T-C p.Tyr1000Cys missense ABI3BP 1 82572 1.21106E-5 41286 0 1.11707E-4
3-100470509-T-A p.Tyr1000Phe missense ABI3BP 1 82572 1.21106E-5 41286 0 6.38325E-5
3-100471637-G-A p.Leu995Phe missense ABI3BP 1 81678 1.22432E-5 40839 0 NA
3-100471643-C-T p.Asp993Asn missense ABI3BP 6 81684 7.34538E-5 40842 0 5.8276E-5
3-100471644-G-A p.Ser992Ser synonymous ABI3BP 7 81686 8.5694E-5 40843 0 6.37389E-5
3-100471680-C-G p.Gln980His missense ABI3BP 1 81790 1.22264E-5 40895 0 NA
3-100471703-A-G p.Tyr973His missense ABI3BP 1 81822 1.22217E-5 40911 0 8.31366E-6
3-100471708-G-C p.Thr971Arg missense ABI3BP 1 81836 1.22196E-5 40918 0 NA
3-100471722-T-C p.Gln966Gln synonymous ABI3BP 1 81822 1.22217E-5 40911 0 NA
3-100471727-T-C p.Lys965Glu missense ABI3BP 2 81796 2.44511E-5 40898 0 8.32931E-6
3-100471729-C-A p.Gly964Val missense ABI3BP 1 81744 1.22333E-5 40872 0 NA
3-100471731-C-T p.Lys963Lys synonymous ABI3BP 1 81752 1.22321E-5 40876 0 NA
3-100471743-G-A p.Tyr959Tyr synonymous ABI3BP 2 81696 2.4481E-5 40848 0 1.8937E-4
3-100471755-A-G p.Asn955Asn synonymous ABI3BP 105 81628 0.00128632 40814 0 8.18456E-4
3-100471764-T-C p.Arg952Arg synonymous ABI3BP 3 81546 3.6789E-5 40773 0 3.18613E-5
3-100471765-C-A p.Arg952Ile missense ABI3BP 1 81532 1.22651E-5 40766 0 8.0737E-6
3-100471789-C-G p.Gly944Ala missense ABI3BP 3 81140 3.69731E-5 40570 0 NA
3-100471793-C-T c.2828-1G>A splice_acceptor ABI3BP 2 81034 2.4681E-5 40517 0 4.11489E-6
3-100471795-A-G c.2828-3T>C splice_region ABI3BP 2 80978 2.46981E-5 40489 0 4.1214E-6
3-100472672-G-A p.Pro940Ser missense ABI3BP 4 81666 4.898E-5 40833 0 NA
3-100472675-C-G p.Glu939Gln missense ABI3BP 1 81638 1.22492E-5 40819 0 NA
3-100472676-A-G p.Ser938Ser synonymous ABI3BP 3 81632 3.67503E-5 40816 0 2.13065E-5
3-100472679-C-A p.Val937Val synonymous ABI3BP 1 81598 1.22552E-5 40799 0 4.10186E-6
3-100472690-CCGCTGAGGAGAAA-C p.Ala933fs frameshift ABI3BP 1 81540 1.22639E-5 40770 0 3.18532E-5
3-100472691-C-T p.Ala933Ala splice_region+synonymous ABI3BP 19 81522 2.33066E-4 40761 0 1.69561E-4
3-100472692-G-T p.Ala933Glu missense+splice_region ABI3BP 2 81518 2.45345E-5 40759 0 3.18451E-5
3-100472692-G-A p.Ala933Val missense+splice_region ABI3BP 2 81518 2.45345E-5 40759 0 2.27816E-5
3-100472692-G-C p.Ala933Gly missense+splice_region ABI3BP 2 81518 2.45345E-5 40759 0 NA
3-100472698-G-T c.2798-6C>A splice_region ABI3BP 3 81490 3.68143E-5 40745 0 4.65257E-5
3-100473461-T-C p.Glu931Gly missense ABI3BP 1 81632 1.22501E-5 40816 0 NA
3-100473478-T-C p.Thr925Thr synonymous ABI3BP 2 82022 2.43837E-5 41011 0 NA
3-100473490-C-T p.Pro921Pro synonymous ABI3BP 1 82082 1.21829E-5 41041 0 9.25164E-6
3-100473505-C-T p.Pro916Pro synonymous ABI3BP 27731 81548 0.340057 40774 5031 0.440091
3-100473541-T-C c.2718-6A>G splice_region ABI3BP 3 81598 3.67656E-5 40799 0 2.74997E-5
3-100484687-C-T p.Thr905Thr splice_region+synonymous ABI3BP 5 82060 6.0931E-5 41030 0 6.36862E-5
3-100484688-G-A p.Thr905Met missense ABI3BP 1 82104 1.21797E-5 41052 0 1.68391E-5
3-100484689-T-C p.Thr905Ala missense ABI3BP 15 82126 1.82646E-4 41063 0 5.03525E-4
3-100484694-G-T p.Pro903Gln missense ABI3BP 1 82198 1.21657E-5 41099 0 NA
3-100484699-C-A p.Leu901Leu synonymous ABI3BP 2 82226 2.43232E-5 41113 0 4.13278E-6
3-100484699-C-G p.Leu901Leu synonymous ABI3BP 3 82224 3.64857E-5 41112 0 1.28116E-4
3-100484701-G-T p.Leu901Met missense ABI3BP 1 82244 1.21589E-5 41122 0 3.18471E-5
3-100484721-G-A p.Thr894Ile missense ABI3BP 1 82334 1.21457E-5 41167 0 NA
3-100484747-G-A p.Asn885Asn synonymous ABI3BP 1 82368 1.21406E-5 41184 0 NA
3-100484760-A-G p.Phe881Ser missense ABI3BP 1 82320 1.21477E-5 41160 0 4.0438E-6
3-100484792-T-G p.Glu870Asp missense+splice_region ABI3BP 1 82046 1.21883E-5 41023 0 6.3674E-5
3-100489580-A-G c.2608+7T>C splice_region ABI3BP 2 77360 2.58532E-5 38680 0 3.03273E-5
3-100489586-C-A c.2608+1G>T splice_donor ABI3BP 1 77768 1.28588E-5 38884 0 NA
3-100489607-G-A p.Pro863Leu missense ABI3BP 1 79022 1.26547E-5 39511 0 5.30375E-6
3-100489615-C-T p.Trp860* stop_gained ABI3BP 1 79794 1.25323E-5 39897 0 NA
3-100489619-T-C p.Asp859Gly missense ABI3BP 1 80156 1.24757E-5 40078 0 NA
3-100489644-C-T p.Gly851Arg missense ABI3BP 1 81344 1.22935E-5 40672 0 NA
3-100489650-C-T p.Val849Met missense ABI3BP 2 81522 2.45333E-5 40761 0 3.93728E-5
3-100489651-G-A p.Thr848Thr synonymous ABI3BP 1 81580 1.22579E-5 40790 0 1.30763E-5
3-100489664-A-AG p.Leu844fs frameshift ABI3BP 2 82074 2.43683E-5 41037 0 NA
3-100489696-G-A p.Ala833Ala synonymous ABI3BP 1 82470 1.21256E-5 41235 0 NA
3-100489702-C-A p.Gly831Gly synonymous ABI3BP 68 82480 8.24442E-4 41240 0 0.00184808
3-100489704-CCT-C p.Glu830fs frameshift ABI3BP 1 82488 1.2123E-5 41244 0 8.34001E-6
3-100489709-G-A p.Thr829Ile missense ABI3BP 4 82490 4.84907E-5 41245 0 6.37024E-5
3-100489712-G-T p.Ala828Asp missense ABI3BP 2 82480 2.42483E-5 41240 0 1.66647E-5
3-100489716-C-T p.Glu827Lys missense ABI3BP 4 82486 4.84931E-5 41243 0 NA
3-100489721-T-C p.Lys825Arg missense ABI3BP 1 82480 1.21242E-5 41240 0 NA
3-100489731-G-A p.Arg822Trp missense ABI3BP 2 82460 2.42542E-5 41230 0 4.99925E-5
3-100489737-C-T p.Val820Ile missense ABI3BP 18 82454 2.18304E-4 41227 0 6.25E-4
3-100489780-G-A p.Tyr805Tyr synonymous ABI3BP 1 81894 1.22109E-5 40947 0 8.6792E-6
3-100489785-G-A p.Arg804* stop_gained ABI3BP 2 81734 2.44696E-5 40867 0 8.55242E-6
3-100489786-C-T p.Val803Val synonymous ABI3BP 1 81722 1.22366E-5 40861 0 4.4082E-6
3-100489800-C-T c.2399-4G>A splice_region ABI3BP 39 80900 4.82077E-4 40450 0 0.004375
3-100489801-G-A c.2399-5C>T splice_region ABI3BP 1 80896 1.23616E-5 40448 0 3.18532E-5
3-100489803-G-C c.2399-7C>G splice_region ABI3BP 1 80826 1.23723E-5 40413 0 NA
3-100493486-T-A p.Thr787Thr synonymous ABI3BP 2 81562 2.45212E-5 40781 0 NA
3-100493486-T-C p.Thr787Thr synonymous ABI3BP 104 81552 0.00127526 40776 0 0.00201613
3-100493491-G-A p.Pro786Ser missense ABI3BP 1 81556 1.22615E-5 40778 0 4.882E-6
3-100493508-G-A p.Thr780Ile missense ABI3BP 4 81354 4.91678E-5 40677 0 8.55578E-5
3-100493524-A-G c.2330-7T>C splice_region ABI3BP 3 81176 3.69567E-5 40588 0 6.25E-4
3-100494043-A-G c.2329+8T>C splice_region ABI3BP 1 82332 1.21459E-5 41166 0 4.04848E-6
3-100494046-C-T c.2329+5G>A splice_region ABI3BP 1 82384 1.21383E-5 41192 0 4.05094E-6
3-100494057-C-T p.Glu775Lys missense ABI3BP 1 82506 1.21203E-5 41253 0 NA
3-100494059-T-A p.Glu774Val missense ABI3BP 1 82518 1.21186E-5 41259 0 NA
3-100494075-C-G p.Val769Leu missense ABI3BP 329 82610 0.00398257 41305 3 0.013125
3-100494075-C-A p.Val769Phe missense ABI3BP 1 82612 1.21048E-5 41306 0 4.0594E-6
3-100494075-C-T p.Val769Ile missense ABI3BP 1 82612 1.21048E-5 41306 0 NA
3-100494089-A-T p.Ile764Lys missense ABI3BP 1 82678 1.20951E-5 41339 0 4.07631E-6
3-100494090-T-C p.Ile764Val missense ABI3BP 275 82668 0.00332656 41334 1 0.00456965
3-100494094-T-G p.Thr762Thr synonymous ABI3BP 4 82674 4.83828E-5 41337 0 1.03812E-5
3-100494101-A-G p.Ile760Thr missense ABI3BP 1 82680 1.20948E-5 41340 0 NA
3-100494106-C-T p.Glu758Glu synonymous ABI3BP 7 82686 8.46576E-5 41343 0 1.82949E-4
3-100494131-G-C p.Pro750Arg missense ABI3BP 1 82680 1.20948E-5 41340 0 2.3428E-5
3-100494138-A-G p.Ser748Pro missense ABI3BP 316 82660 0.00382289 41330 3 0.00844595
3-100494140-C-T p.Arg747Lys missense ABI3BP 1 82672 1.2096E-5 41336 0 1.25122E-5
3-100494149-G-A p.Pro744Leu missense ABI3BP 2 82652 2.41978E-5 41326 0 1.26733E-5
3-100494161-G-A p.Pro740Leu missense ABI3BP 1 82648 1.20995E-5 41324 0 NA
3-100494178-T-A p.Gly734Gly splice_region+synonymous ABI3BP 1 82588 1.21083E-5 41294 0 7.43848E-5
3-100494186-A-T c.2201-7T>A splice_region ABI3BP 2 82544 2.42295E-5 41272 0 NA
3-100497124-G-A c.2200+4C>T splice_region ABI3BP 4 81032 4.93632E-5 40516 0 6.25E-4
3-100497127-C-G c.2200+1G>C splice_donor ABI3BP 1 81210 1.23138E-5 40605 0 NA
3-100497129-T-C p.Ala733Ala splice_region+synonymous ABI3BP 1 81328 1.22959E-5 40664 0 8.4035E-6
3-100497153-A-G p.Asn725Asn synonymous ABI3BP 6 82104 7.3078E-5 41052 0 NA
3-100497154-T-C p.Asn725Ser missense ABI3BP 1 82128 1.21761E-5 41064 0 NA
3-100497156-A-G p.Asn724Asn synonymous ABI3BP 2 82162 2.43422E-5 41081 0 1.0842E-4
3-100497160-G-A p.Pro723Leu missense ABI3BP 2 82198 2.43315E-5 41099 0 4.01552E-6
3-100497168-A-T p.Pro720Pro synonymous ABI3BP 1 82300 1.21507E-5 41150 0 4.01503E-6
3-100497169-G-A p.Pro720Leu missense ABI3BP 2 82314 2.42972E-5 41157 0 NA
3-100497171-T-C p.Lys719Lys synonymous ABI3BP 2 82292 2.43037E-5 41146 0 4.016E-6
3-100497178-C-T p.Arg717Gln missense ABI3BP 2 82296 2.43025E-5 41148 0 2.48764E-5
3-100497183-G-A p.His715His synonymous ABI3BP 19 82328 2.30784E-4 41164 0 3.82409E-4
3-100497195-G-T p.Pro711Pro synonymous ABI3BP 1 82288 1.21524E-5 41144 0 NA
3-100497199-G-A p.Pro710Leu missense ABI3BP 1 82264 1.2156E-5 41132 0 NA
3-100497201-C-T p.Leu709Leu synonymous ABI3BP 1 82232 1.21607E-5 41116 0 4.06379E-6
3-100497208-G-A p.Pro707Leu missense ABI3BP 2 82158 2.43433E-5 41079 0 1.04341E-4
3-100497211-C-T p.Arg706His missense ABI3BP 14 82106 1.70511E-4 41053 0 0.00125
3-100497212-G-A p.Arg706Cys missense ABI3BP 4 82110 4.87151E-5 41055 0 1.21677E-5
3-100497214-C-T p.Arg705His missense ABI3BP 5 82062 6.09295E-5 41031 0 5.82663E-5
3-100497215-G-A p.Arg705Cys missense ABI3BP 4 82096 4.87234E-5 41048 0 6.25E-4
3-100497220-C-G p.Gly703Ala missense+splice_region ABI3BP 9 82080 1.09649E-4 41040 0 0.00100908
3-100498969-T-A c.2107+7A>T splice_region ABI3BP 1 82162 1.21711E-5 41081 0 8.29683E-6
3-100498979-G-A p.Pro702Ser missense ABI3BP 2 82232 2.43214E-5 41116 0 NA
3-100498983-T-C p.Lys700Lys synonymous ABI3BP 1 82260 1.21566E-5 41130 0 NA
3-100498985-T-G p.Lys700Gln missense ABI3BP 1 82264 1.2156E-5 41132 0 NA
3-100498999-G-A p.Ser695Phe missense ABI3BP 3 82280 3.64609E-5 41140 0 8.29119E-6
3-100499004-C-T p.Val693Val synonymous ABI3BP 2 82284 2.43061E-5 41142 0 3.18695E-5
3-100499026-C-T p.Gly686Asp missense ABI3BP 1 82232 1.21607E-5 41116 0 NA
3-100499027-C-G p.Gly686Arg missense ABI3BP 6 82226 7.29696E-5 41113 0 4.42435E-5
3-100499042-C-T p.Ala681Thr missense ABI3BP 1 82160 1.21714E-5 41080 0 1.65813E-5
3-100499046-C-T p.Lys679Lys synonymous ABI3BP 2 82122 2.4354E-5 41061 0 6.37389E-5
3-100499046-C-G p.Lys679Asn missense ABI3BP 1 82122 1.2177E-5 41061 0 3.18695E-5
3-100499052-C-T p.Gly677Gly splice_region+synonymous ABI3BP 4 82084 4.87306E-5 41042 0 2.25841E-4
3-100499057-T-G c.2030-4A>C splice_region ABI3BP 2 82038 2.43789E-5 41019 0 NA
3-100499057-T-C c.2030-4A>G splice_region ABI3BP 2 82038 2.43789E-5 41019 0 4.0496E-6
3-100506588-C-G p.Gly1373Gly synonymous ABI3BP 2 76906 2.60058E-5 38453 0 NA
3-100506592-C-A p.Ser1372Ile missense ABI3BP 3 76930 3.89965E-5 38465 0 NA
3-100506592-C-G p.Ser1372Thr missense ABI3BP 1 76932 1.29985E-5 38466 0 3.18552E-5
3-100506592-C-T p.Ser1372Asn missense ABI3BP 1 76932 1.29985E-5 38466 0 NA
3-100506594-G-T p.Pro1371Pro synonymous ABI3BP 27 76936 3.50941E-4 38468 0 6.36902E-4
3-100506602-C-T p.Gly1369Arg missense ABI3BP 1 76942 1.29968E-5 38471 0 NA
3-100506613-G-C p.Pro1365Arg missense ABI3BP 1 76930 1.29988E-5 38465 0 NA
3-100506628-G-T p.Thr1360Lys missense ABI3BP 2 76874 2.60166E-5 38437 0 NA
3-100506633-T-C p.Thr1358Thr synonymous ABI3BP 1 76794 1.30219E-5 38397 0 NA
3-100506634-G-A p.Thr1358Ile missense ABI3BP 1 76782 1.30239E-5 38391 0 7.56178E-6
3-100506639-A-T p.Asn1356Lys missense ABI3BP 2 76694 2.60777E-5 38347 0 NA
3-100506641-T-C p.Asn1356Asp missense ABI3BP 245 76660 0.00319593 38330 2 0.00761777
3-100506642-C-T p.Leu1355Leu synonymous ABI3BP 9 76654 1.17411E-4 38327 0 2.22923E-4
3-100508298-C-T p.Gly677Arg missense+splice_region ABI3BP 1 81930 1.22055E-5 40965 0 NA
3-100508300-G-T p.Pro676His missense+splice_region ABI3BP 2 81934 2.44099E-5 40967 0 1.82889E-5
3-100508312-G-A p.Pro672Leu missense ABI3BP 3 81930 3.66166E-5 40965 0 3.53008E-5
3-100508323-T-A p.Thr668Thr synonymous ABI3BP 3 81870 3.66435E-5 40935 0 0.00100806
3-100508330-G-C p.Pro666Arg missense ABI3BP 1 81834 1.22199E-5 40917 0 NA
3-100508345-T-C p.Tyr661Cys missense ABI3BP 1 81784 1.22273E-5 40892 0 3.18634E-5
3-100508355-GTGGCGCT-G p.Pro657fs frameshift ABI3BP 1 81748 1.22327E-5 40874 0 NA
3-100508359-C-T p.Ala656Ala splice_region+synonymous ABI3BP 2 81686 2.4484E-5 40843 0 0.00201613
3-100508360-G-A p.Ala656Val missense+splice_region ABI3BP 12 81684 1.46908E-4 40842 1 6.15233E-5
3-100508363-G-GTAT c.1967-4_1967-3insATA splice_region ABI3BP 1 81696 1.22405E-5 40848 0 NA
3-100508363-G-C c.1967-3C>G splice_region ABI3BP 1 81696 1.22405E-5 40848 0 9.64041E-6
3-100508366-ACAGAGGAAC-A c.1967-15_1967-7delGTTCCTCTG splice_region ABI3BP 1 81674 1.22438E-5 40837 0 NA
3-100511535-C-T p.Ala656Thr missense+splice_region ABI3BP 1 81976 1.21987E-5 40988 0 NA
3-100511540-G-C p.Thr654Ser missense ABI3BP 5 81990 6.0983E-5 40995 0 5.63939E-5
3-100511548-T-G p.Ala651Ala synonymous ABI3BP 2 82066 2.43706E-5 41033 0 4.0247E-6
3-100511555-T-G p.Glu649Ala missense ABI3BP 1 82098 1.21806E-5 41049 0 8.35534E-6
3-100511564-C-T p.Arg646Gln missense ABI3BP 3 82120 3.65319E-5 41060 0 1.67001E-5
3-100511565-G-A p.Arg646* stop_gained ABI3BP 5 82116 6.08895E-5 41058 0 1.08536E-4
3-100511570-A-G p.Ile644Thr missense ABI3BP 1 82098 1.21806E-5 41049 0 4.02253E-6
3-100511577-T-C p.Thr642Ala missense ABI3BP 1 82100 1.21803E-5 41050 0 2.41379E-5
3-100511578-T-G p.Thr641Thr synonymous ABI3BP 2 82094 2.43623E-5 41047 0 NA
3-100511583-A-G p.Phe640Leu missense ABI3BP 2 82060 2.43724E-5 41030 0 NA
3-100511585-G-A p.Pro639Leu missense ABI3BP 204 82060 0.00248599 41030 2 0.00679426
3-100511585-G-C p.Pro639Arg missense ABI3BP 1 82060 1.21862E-5 41030 0 4.02395E-6
3-100511588-T-C p.Glu638Gly missense ABI3BP 1 82040 1.21892E-5 41020 0 8.04887E-6
3-100511595-T-C p.Thr636Ala missense ABI3BP 2 81974 2.4398E-5 40987 0 6.37796E-5
3-100511599-T-C p.Gln634Gln synonymous ABI3BP 2 81940 2.44081E-5 40970 0 8.36176E-6
3-100511609-T-C p.Glu631Gly missense ABI3BP 1 81792 1.22261E-5 40896 0 8.379E-6
3-100513772-G-A p.Thr628Ile missense ABI3BP 1 81722 1.22366E-5 40861 0 NA
3-100513775-G-A p.Thr627Ile missense ABI3BP 1 81746 1.2233E-5 40873 0 5.44591E-6
3-100513780-T-C p.Leu625Leu synonymous ABI3BP 4 81804 4.88974E-5 40902 0 2.64071E-4
3-100513782-G-T p.Leu625Ile missense ABI3BP 2 81808 2.44475E-5 40904 0 3.18715E-5
3-100513786-C-G p.Glu623Asp missense ABI3BP 1 81858 1.22163E-5 40929 0 7.40631E-5
3-100513806-A-C p.Ser617Ala missense ABI3BP 1 81970 1.21996E-5 40985 0 7.18804E-5
3-100513811-A-G p.Met615Thr missense ABI3BP 2 81986 2.43944E-5 40993 0 6.25E-4
3-100513815-G-T p.Pro614Thr missense ABI3BP 1 81978 1.21984E-5 40989 0 NA
3-100513823-G-A p.Pro611Leu missense ABI3BP 1 81988 1.21969E-5 40994 0 6.11202E-6
3-100513830-C-T p.Gly609Ser missense ABI3BP 1 81962 1.22008E-5 40981 0 NA
3-100513832-C-T p.Arg608Gln missense ABI3BP 1 81950 1.22026E-5 40975 0 NA
3-100513833-G-A p.Arg608* stop_gained ABI3BP 1 81940 1.22041E-5 40970 0 1.28713E-5
3-100513835-G-C p.Thr607Arg missense ABI3BP 3 81950 3.66077E-5 40975 0 8.20614E-5
3-100513853-A-G c.1808-6T>C splice_region ABI3BP 1 81012 1.23439E-5 40506 0 NA
3-100514645-T-C c.370+3A>G splice_region ABI3BP 1 34512 2.89754E-5 17256 0 2.37876E-5
3-100514647-C-A c.370+1G>T splice_donor ABI3BP 1 34520 2.89687E-5 17260 0 NA
3-100514648-C-T p.Ala124Thr missense+splice_region ABI3BP 2 34542 5.79005E-5 17271 0 7.90726E-6
3-100514648-C-A p.Ala124Ser missense+splice_region ABI3BP 1 34542 2.89503E-5 17271 0 NA
3-100514668-T-TCAAATCTAAAGGTAACAGGCTGCAGAACTATGC p.Phe116_Glu117insGlyIleValLeuGlnProValThrPheArgPhe conservative_inframe_insertion ABI3BP 2 34592 5.78168E-5 17296 0 1.57344E-5
3-100514684-C-T p.Val112Ile missense ABI3BP 8 34578 2.31361E-4 17289 0 1.81122E-4
3-100514689-T-C p.Gln110Arg missense ABI3BP 2 34580 5.78369E-5 17290 0 NA
3-100514699-T-C c.323-4A>G splice_region ABI3BP 2 34552 5.78838E-5 17276 0 3.73972E-4
3-100515254-A-G p.Pro602Pro splice_region+synonymous ABI3BP 46 81404 5.65083E-4 40702 0 5.89226E-4
3-100515258-T-C p.Glu601Gly missense ABI3BP 1 81672 1.22441E-5 40836 0 NA
3-100515259-C-T p.Glu601Lys missense ABI3BP 3 81632 3.67503E-5 40816 0 0.00100705
3-100515260-G-A p.Ser600Ser synonymous ABI3BP 4 81664 4.89812E-5 40832 0 8.49185E-6
3-100515262-T-C p.Ser600Gly missense ABI3BP 1 81796 1.22255E-5 40898 0 NA
3-100515273-T-C p.Glu596Gly missense ABI3BP 2 81946 2.44063E-5 40973 0 1.23962E-5
3-100515280-A-G p.Tyr594His missense ABI3BP 2 81948 2.44057E-5 40974 0 5.0668E-5
3-100515284-T-A p.Lys592Asn missense ABI3BP 1 82058 1.21865E-5 41029 0 4.10829E-6
3-100515297-A-T p.Leu588His missense ABI3BP 2 82028 2.43819E-5 41014 0 3.40009E-5
3-100515313-C-G c.1748-1G>C splice_acceptor ABI3BP 1 81920 1.2207E-5 40960 0 NA
3-100515319-GA-G c.1748-8delT splice_region ABI3BP 1 81804 1.22243E-5 40902 0 NA
3-100523636-C-G p.Ala583Pro missense+splice_region ABI3BP 1 81914 1.22079E-5 40957 0 8.31794E-6
3-100523644-G-T p.Thr580Asn missense ABI3BP 1 81974 1.2199E-5 40987 0 8.31214E-6
3-100523645-T-G p.Thr580Pro missense ABI3BP 1 81988 1.21969E-5 40994 0 4.01907E-6
3-100523659-G-A p.Pro575Leu missense ABI3BP 1 82068 1.2185E-5 41034 0 2.49128E-5
3-100523671-G-A p.Thr571Met missense ABI3BP 6 82086 7.30941E-5 41043 0 0.00125
3-100523675-T-C p.Lys570Glu missense ABI3BP 1 82078 1.21835E-5 41039 0 NA
3-100523677-G-T p.Pro569Gln missense ABI3BP 1 82076 1.21838E-5 41038 0 4.0179E-6
3-100523690-C-G p.Val565Leu missense ABI3BP 1 82038 1.21895E-5 41019 0 NA
3-100523692-C-G p.Arg564Pro missense ABI3BP 120 82012 0.0014632 41006 0 0.0151515
3-100523692-C-T p.Arg564His missense ABI3BP 6 82014 7.31582E-5 41007 0 6.37105E-5
3-100523693-G-A p.Arg564Cys missense ABI3BP 1 82018 1.21924E-5 41009 0 2.41107E-5
3-100523697-G-A p.Pro562Pro synonymous ABI3BP 2 81998 2.43908E-5 40999 0 8.30675E-6
3-100523712-T-C c.1673-2A>G splice_acceptor ABI3BP 1 81856 1.22166E-5 40928 0 NA
3-100523718-A-G c.1673-8T>C splice_region ABI3BP 6 81788 7.33604E-5 40894 0 0.00125
3-100527025-C-A p.Arg551Ile missense ABI3BP 2 82506 2.42407E-5 41253 0 1.21001E-5
3-100527025-C-T p.Arg551Lys missense ABI3BP 1 82506 1.21203E-5 41253 0 2.64868E-5
3-100527031-C-T p.Arg549His missense ABI3BP 27 82482 3.27344E-4 41241 0 6.25E-4
3-100527032-G-A p.Arg549Cys missense ABI3BP 3 82488 3.63689E-5 41244 0 6.25E-4
3-100527036-T-TG p.Pro548fs frameshift ABI3BP 2 82504 2.42412E-5 41252 0 NA
3-100527039-T-C p.Thr187Thr splice_region+synonymous ABI3BP 2 82504 2.42412E-5 41252 0 NA
3-100527058-G-GCA p.Ala540fs frameshift ABI3BP 1 82474 1.2125E-5 41237 0 4.04142E-6
3-100527061-C-T p.Arg539His missense ABI3BP 2 82438 2.42607E-5 41219 0 2.8324E-5
3-100527069-C-G p.Gln536His missense ABI3BP 169 82404 0.00205087 41202 1 8.92566E-4
3-100527076-G-A p.Pro534Leu missense ABI3BP 1 82350 1.21433E-5 41175 0 1.02866E-5
3-100529252-T-C c.1459+4A>G splice_region ABI3BP 2 76220 2.62398E-5 38110 0 NA
3-100529258-GGTTCA-G p.Glu485fs frameshift ABI3BP 2 76434 2.61664E-5 38217 0 NA
3-100529271-G-A p.Pro482Ser missense ABI3BP 3 76602 3.91635E-5 38301 0 1.46582E-5
3-100529275-A-T p.Asp480Glu missense ABI3BP 11 76654 1.43502E-4 38327 0 1.59276E-4
3-100529285-G-T p.Pro477His missense ABI3BP 1 76710 1.30361E-5 38355 0 NA
3-100529287-T-G p.Leu476Leu synonymous ABI3BP 4 76718 5.2139E-5 38359 0 NA
3-100529290-G-A p.Thr475Thr synonymous ABI3BP 1 76738 1.30314E-5 38369 0 NA
3-100529291-G-A p.Thr475Ile missense ABI3BP 1 76732 1.30324E-5 38366 0 NA
3-100529291-G-C p.Thr475Ser missense ABI3BP 1 76732 1.30324E-5 38366 0 NA
3-100529296-A-G p.Ser473Ser synonymous ABI3BP 2 76752 2.6058E-5 38376 0 1.46417E-5
3-100529300-T-C p.Gln472Arg missense ABI3BP 2 76792 2.60444E-5 38396 0 NA
3-100529307-G-A p.Pro470Ser missense ABI3BP 270 76820 0.00351471 38410 1 0.004375
3-100529314-C-T p.Ser467Ser synonymous ABI3BP 6 76778 7.81474E-5 38389 0 0.0025
3-100529317-C-T p.Thr466Thr synonymous ABI3BP 42 76754 5.47203E-4 38377 1 0.00223015
3-100529322-C-T c.1394-1G>A splice_acceptor ABI3BP 1 76808 1.30195E-5 38404 0 1.46383E-5
3-100529327-G-T c.1394-6C>A splice_region ABI3BP 4 76768 5.2105E-5 38384 0 3.18593E-5
3-100530074-C-A p.Glu465* stop_gained ABI3BP 1 76856 1.30113E-5 38428 0 NA
3-100530087-AGGT-A p.Pro460del disruptive_inframe_deletion ABI3BP 1 76914 1.30015E-5 38457 0 NA
3-100530089-G-A p.Pro460Ser missense ABI3BP 2 76910 2.60044E-5 38455 0 NA
3-100530091-G-T p.Pro459Gln missense ABI3BP 35 76910 4.55077E-4 38455 0 5.41574E-4
3-100530102-A-G p.Tyr455Tyr synonymous ABI3BP 43 76930 5.5895E-4 38465 0 0.00500626
3-100530103-T-C p.Tyr455Cys missense ABI3BP 1 76924 1.29998E-5 38462 0 NA
3-100530106-G-A p.Thr454Ile missense ABI3BP 1 76918 1.30009E-5 38459 0 NA
3-100530110-T-C p.Ile453Val missense ABI3BP 1 76872 1.30086E-5 38436 0 7.04126E-5
3-100530112-G-A p.Ser452Phe missense ABI3BP 15 76856 1.9517E-4 38428 0 1.59368E-4
3-100530113-A-T p.Ser452Thr missense ABI3BP 1 76848 1.30127E-5 38424 0 3.18492E-5
3-100530119-C-A p.Val450Leu missense+splice_region ABI3BP 1 76804 1.30202E-5 38402 0 NA
3-100530122-C-G c.1346-1G>C splice_acceptor ABI3BP 1 76786 1.30232E-5 38393 0 7.38531E-6
3-100530127-C-G c.1346-6G>C splice_region ABI3BP 1 76668 1.30433E-5 38334 0 3.18735E-5
3-100530575-C-T p.Glu448Lys missense ABI3BP 7 77320 9.05328E-5 38660 0 0.00211805
3-100530602-G-A p.Pro439Ser missense ABI3BP 1 77390 1.29216E-5 38695 0 7.31005E-6
3-100530632-T-C p.Thr429Ala missense ABI3BP 48 77358 6.20492E-4 38679 0 0.00133766
3-100530641-G-A p.Pro426Ser missense+splice_region ABI3BP 1 77348 1.29286E-5 38674 0 7.04722E-5
3-100530644-C-T c.1274-1G>A splice_acceptor ABI3BP 1 77332 1.29313E-5 38666 0 NA
3-100531305-T-G c.1273+6A>C splice_region ABI3BP 1 69900 1.43062E-5 34950 0 NA
3-100531311-C-T p.Ala425Thr missense+splice_region ABI3BP 10 70066 1.42723E-4 35033 2 2.84091E-4
3-100531313-A-G p.Ile424Thr missense+splice_region ABI3BP 1 70054 1.42747E-5 35027 0 0.00111794
3-100531328-G-A p.Ser419Leu missense ABI3BP 1 70762 1.41319E-5 35381 0 NA
3-100531345-A-C p.Val413Val synonymous ABI3BP 1 70808 1.41227E-5 35404 0 NA
3-100531348-C-T p.Ser412Ser synonymous ABI3BP 4 70558 5.66909E-5 35279 0 4.74136E-5
3-100531349-G-T p.Ser412* stop_gained ABI3BP 2 70656 2.83062E-5 35328 0 2.33525E-5
3-100531351-T-C p.Glu411Glu synonymous ABI3BP 1 70668 1.41507E-5 35334 0 NA
3-100531371-G-C c.1217-4C>G splice_region ABI3BP 1 70346 1.42154E-5 35173 0 NA
3-100532507-G-T p.Pro405His missense+splice_region ABI3BP 391 76484 0.00511218 38242 7 0.0102607
3-100532508-G-A p.Pro405Ser missense ABI3BP 3 76494 3.92188E-5 38247 0 7.32783E-6
3-100532509-T-C p.Gln404Gln synonymous ABI3BP 3 76522 3.92044E-5 38261 0 3.1839E-5
3-100532510-T-A p.Gln404Leu missense ABI3BP 11601 76170 0.152304 38085 1003 0.215
3-100532521-C-A p.Met400Ile missense ABI3BP 2 76642 2.60954E-5 38321 0 1.46475E-5
3-100532527-T-G p.Leu398Leu synonymous ABI3BP 1 76690 1.30395E-5 38345 0 NA
3-100532535-G-T p.Pro396Thr missense ABI3BP 1 76736 1.30317E-5 38368 0 1.09798E-4
3-100532548-T-A p.Lys391Asn missense ABI3BP 1 76768 1.30263E-5 38384 0 NA
3-100532566-C-T p.Leu385Leu synonymous ABI3BP 1 76756 1.30283E-5 38378 0 4.39342E-5
3-100532576-A-G p.Leu382Pro missense ABI3BP 1 76704 1.30371E-5 38352 0 1.27389E-4
3-100534749-T-C c.1141+7A>G splice_region ABI3BP 1 74548 1.34142E-5 37274 0 1.68435E-5
3-100534751-A-G c.1141+5T>C splice_region ABI3BP 2 74590 2.68132E-5 37295 0 NA
3-100534753-T-C c.1141+3A>G splice_region ABI3BP 1 74654 1.33951E-5 37327 0 3.36033E-5
3-100534754-AC-A c.1141+1delG splice_donor ABI3BP 1 74702 1.33865E-5 37351 0 1.67154E-5
3-100534763-T-C p.Thr378Thr synonymous ABI3BP 2 74932 2.66909E-5 37466 0 NA
3-100534776-T-G p.Asp374Ala missense ABI3BP 3 75166 3.99117E-5 37583 0 1.59688E-5
3-100534784-A-G p.His371His synonymous ABI3BP 1 75288 1.32823E-5 37644 0 7.84351E-6
3-100534791-A-G p.Val369Ala missense ABI3BP 2 75338 2.6547E-5 37669 0 1.77085E-4
3-100534812-G-C p.Ser362Cys missense ABI3BP 15 75344 1.99087E-4 37672 0 2.66099E-4
3-100535517-G-T p.Pro1002Thr missense ABI3BP 1 77228 1.29487E-5 38614 0 NA
3-100535519-T-G p.Asn1001Thr missense ABI3BP 5 77242 6.47316E-5 38621 0 2.90892E-5
3-100535522-A-C p.Met1000Arg missense ABI3BP 1 77308 1.29353E-5 38654 0 NA
3-100535543-T-C p.Gln357Arg missense ABI3BP 1 77456 1.29106E-5 38728 0 NA
3-100535555-G-A p.Pro353Leu missense ABI3BP 1 77492 1.29046E-5 38746 0 NA
3-100535563-T-G p.Thr350Thr synonymous ABI3BP 1 77514 1.29009E-5 38757 0 NA
3-100535571-TG-T p.Thr349fs frameshift ABI3BP 2 77556 2.57878E-5 38778 0 NA
3-100535579-G-T p.Pro345His missense ABI3BP 1 77580 1.28899E-5 38790 0 3.18552E-5
3-100535582-C-T p.Arg344His missense ABI3BP 11 77566 1.41815E-4 38783 0 0.00125
3-100535583-G-A p.Arg344Cys missense ABI3BP 3 77554 3.86827E-5 38777 0 2.18668E-5
3-100535585-G-T p.Pro343His missense ABI3BP 5 77550 6.44745E-5 38775 0 3.18593E-5
3-100535586-G-A p.Pro343Ser missense ABI3BP 2 77548 2.57905E-5 38774 0 7.29001E-6
3-100535588-C-T p.Arg342His missense ABI3BP 4 77544 5.15836E-5 38772 0 2.18799E-5
3-100535591-C-T p.Arg341His missense ABI3BP 9 77548 1.16057E-4 38774 0 2.23086E-4
3-100535597-C-T p.Arg339Gln missense ABI3BP 2 77550 2.57898E-5 38775 0 6.25E-4
3-100535598-G-A p.Arg339Trp missense ABI3BP 7 77540 9.0276E-5 38770 0 1.16722E-4
3-100535609-G-A p.Pro335Leu missense ABI3BP 1 77520 1.28999E-5 38760 0 NA
3-100535614-TGAAG-T c.1001-6_1001-3delCTTC splice_region ABI3BP 1 77504 1.29026E-5 38752 0 NA
3-100535620-A-G c.1001-8T>C splice_region ABI3BP 2 77474 2.58151E-5 38737 0 6.57385E-5
3-100536280-C-T p.Ala334Thr missense+splice_region ABI3BP 1 75660 1.3217E-5 37830 0 7.33676E-5
3-100536284-C-T p.Thr332Thr synonymous ABI3BP 3213 75490 0.0425619 37745 178 0.070837
3-100536284-CGTT-C p.Thr332del disruptive_inframe_deletion ABI3BP 1 75616 1.32247E-5 37808 0 NA
3-100536293-T-A p.Pro329Pro synonymous ABI3BP 1 75740 1.32031E-5 37870 0 3.1841E-5
3-100536295-G-C p.Pro329Ala missense ABI3BP 2 75680 2.64271E-5 37840 0 NA
3-100536302-G-C p.Thr326Thr synonymous ABI3BP 1 75584 1.32303E-5 37792 0 7.51157E-6
3-100536312-G-A p.Thr323Ile missense ABI3BP 2 75512 2.64859E-5 37756 0 1.41978E-4
3-100536331-T-C p.Thr317Ala missense ABI3BP 2 75362 2.65386E-5 37681 0 1.59195E-4
3-100536337-C-A p.Val315Phe missense+splice_region ABI3BP 3 75136 3.99276E-5 37568 0 1.99767E-4
3-100537363-C-A c.940+6G>T splice_region ABI3BP 10 76656 1.30453E-4 38328 1 NA
3-100537368-C-T c.940+1G>A splice_donor ABI3BP 1 76692 1.30392E-5 38346 0 NA
3-100537372-T-C p.Met313Val missense ABI3BP 1 76718 1.30348E-5 38359 0 NA
3-100537400-A-C p.Gly303Gly synonymous ABI3BP 1 76750 1.30293E-5 38375 0 NA
3-100537403-A-C p.Pro302Pro synonymous ABI3BP 2 76760 2.60552E-5 38380 0 2.19417E-5
3-100537415-T-G p.Thr298Thr synonymous ABI3BP 7 76704 9.12599E-5 38352 0 3.65839E-5
3-100537421-A-C p.Pro296Pro synonymous ABI3BP 7 76622 9.13576E-5 38311 0 1.46338E-5
3-100537422-G-C p.Pro296Arg missense ABI3BP 1 76610 1.30531E-5 38305 0 1.46359E-5
3-100537422-G-T p.Pro296His missense ABI3BP 1 76610 1.30531E-5 38305 0 7.31797E-6
3-100537427-T-A c.884-2A>T splice_acceptor ABI3BP 1 76542 1.30647E-5 38271 0 7.31872E-6
3-100539055-CA-C c.883+8delT splice_region ABI3BP 2 76898 2.60085E-5 38449 0 3.18857E-5
3-100539071-G-T p.Thr292Thr synonymous ABI3BP 1 76954 1.29948E-5 38477 0 NA
3-100539084-T-A p.Glu288Val missense ABI3BP 1 77054 1.29779E-5 38527 0 1.36986E-4
3-100539089-A-G p.Ser286Ser synonymous ABI3BP 1 77062 1.29766E-5 38531 0 NA
3-100539090-C-A p.Ser286Ile missense ABI3BP 119 77070 0.00154405 38535 2 0.00436445
3-100539092-T-C p.Pro285Pro synonymous ABI3BP 1 77100 1.29702E-5 38550 0 NA
3-100539095-T-C p.Thr284Thr synonymous ABI3BP 1 77118 1.29671E-5 38559 0 NA
3-100539104-A-T p.Thr281Thr synonymous ABI3BP 1 77150 1.29618E-5 38575 0 NA
3-100539105-G-GT p.Thr281fs frameshift ABI3BP 1 77168 1.29587E-5 38584 0 2.17593E-5
3-100539111-G-C p.Pro279Arg missense ABI3BP 1 77188 1.29554E-5 38594 0 NA
3-100539114-C-T p.Arg278His missense ABI3BP 3 77196 3.88621E-5 38598 0 2.17786E-5
3-100539120-C-T p.Arg276His missense ABI3BP 3 77200 3.88601E-5 38600 0 6.86153E-5
3-100539123-C-T p.Arg275His missense ABI3BP 3 77210 3.88551E-5 38605 0 3.18471E-5
3-100539124-G-A p.Arg275Cys missense ABI3BP 1 77218 1.29503E-5 38609 0 NA
3-100539129-C-T p.Arg273Gln missense ABI3BP 3 77208 3.88561E-5 38604 0 7.27728E-6
3-100539130-G-A p.Arg273* stop_gained ABI3BP 1 77198 1.29537E-5 38599 0 6.89085E-5
3-100539141-T-C p.Lys269Arg missense ABI3BP 1 77186 1.29557E-5 38593 0 3.18471E-5
3-100539142-T-C p.Lys269Glu missense ABI3BP 3 77176 3.88722E-5 38588 0 NA
3-100539149-T-C c.800-2A>G splice_acceptor ABI3BP 1 77110 1.29685E-5 38555 0 NA
3-100539152-A-T c.800-5T>A splice_region ABI3BP 1 77094 1.29712E-5 38547 0 NA
3-100539891-C-T c.799+7G>A splice_region ABI3BP 5 76748 6.51483E-5 38374 0 3.18532E-5
3-100539892-T-C c.799+6A>G splice_region ABI3BP 1 76766 1.30266E-5 38383 0 NA
3-100539893-A-G c.799+5T>C splice_region ABI3BP 1 76754 1.30286E-5 38377 0 NA
3-100539905-T-C p.Thr264Thr synonymous ABI3BP 2 76876 2.60159E-5 38438 0 NA
3-100539911-C-T p.Trp262* stop_gained ABI3BP 1 76918 1.30009E-5 38459 0 NA
3-100539921-G-C p.Thr259Ser missense ABI3BP 3 76918 3.90026E-5 38459 0 1.6803E-4
3-100539938-T-A p.Lys253Asn missense ABI3BP 10 76876 1.3008E-4 38438 0 3.18451E-4
3-100539943-G-A p.Leu252Phe missense ABI3BP 24 76838 3.12345E-4 38419 0 0.0011465
3-100539947-C-T p.Ala250Ala synonymous ABI3BP 1 76776 1.30249E-5 38388 0 1.4615E-5
3-100539953-A-T p.Pro248Pro synonymous ABI3BP 11 76806 1.43218E-4 38403 0 6.36943E-5
3-100539960-G-T c.740-3C>A splice_region ABI3BP 1 76700 1.30378E-5 38350 0 NA
3-100541436-G-A p.Pro246Ser missense ABI3BP 2 77738 2.57274E-5 38869 0 4.55314E-4
3-100541453-T-C p.Glu240Gly missense ABI3BP 11 77794 1.41399E-4 38897 0 2.56148E-4
3-100541458-A-T p.Arg238Arg synonymous ABI3BP 2 77790 2.57102E-5 38895 0 NA
3-100541459-C-G p.Arg238Pro missense ABI3BP 1 77788 1.28555E-5 38894 0 NA
3-100541460-G-A p.Arg238Cys missense ABI3BP 5 77796 6.42707E-5 38898 0 3.82848E-4
3-100541470-T-G p.Lys234Asn missense ABI3BP 3 77820 3.85505E-5 38910 0 6.36537E-5
3-100541475-T-C p.Thr233Ala missense ABI3BP 1 77820 1.28502E-5 38910 0 NA
3-100541483-C-T p.Arg230His missense ABI3BP 3 77798 3.85614E-5 38899 0 6.25E-4
3-100541487-G-T p.Pro229Thr missense ABI3BP 6 77800 7.71208E-5 38900 0 7.18205E-6
3-100541489-C-T p.Arg228His missense ABI3BP 22 77796 2.82791E-4 38898 0 2.23086E-4
3-100541489-C-A p.Arg228Leu missense ABI3BP 1 77796 1.28541E-5 38898 0 NA
3-100541492-C-T p.Arg227His missense ABI3BP 1 77794 1.28545E-5 38897 0 6.37146E-5
3-100541494-T-G p.Thr226Thr synonymous ABI3BP 1 77784 1.28561E-5 38892 0 NA
3-100541499-G-A p.Arg225Trp missense ABI3BP 7 77778 8.99997E-5 38889 0 3.18613E-5
3-100541504-G-A p.Ser223Leu missense ABI3BP 1 77782 1.28564E-5 38891 0 9.55597E-5
3-100541505-A-G p.Ser223Pro missense ABI3BP 1 77774 1.28578E-5 38887 0 1.43769E-5
3-100541507-G-A p.Thr222Ile missense ABI3BP 5 77774 6.42888E-5 38887 0 3.18573E-5
3-100541517-C-A c.656-1G>T splice_acceptor ABI3BP 1 77754 1.28611E-5 38877 0 7.19777E-6
3-100541522-GGAA-G c.656-9_656-7delTTC splice_region ABI3BP 1 77746 1.28624E-5 38873 0 NA
3-100542296-C-T c.655+6G>A splice_region ABI3BP 2 76732 2.60647E-5 38366 0 7.07114E-5
3-100542297-G-A c.655+5C>T splice_region ABI3BP 12 76754 1.56344E-4 38377 0 2.08551E-4
3-100542302-C-T p.Ala219Thr missense+splice_region ABI3BP 2 76844 2.60268E-5 38422 0 NA
3-100542305-ATGT-A p.Thr217del conservative_inframe_deletion ABI3BP 29 76858 3.77319E-4 38429 0 0.00141143
3-100542319-T-C p.Glu213Gly missense ABI3BP 1 76952 1.29951E-5 38476 0 NA
3-100542320-C-T p.Glu213Lys missense ABI3BP 2 76948 2.59916E-5 38474 0 NA
3-100542322-G-A p.Pro212Leu missense ABI3BP 1 76964 1.29931E-5 38482 0 NA
3-100542326-TAA-T p.Leu210fs frameshift ABI3BP 2 76968 2.59848E-5 38484 0 7.35283E-6
3-100542337-G-A p.Pro207Leu missense ABI3BP 1 76954 1.29948E-5 38477 0 7.355E-6
3-100542337-G-T p.Pro207His missense ABI3BP 4 76954 5.19791E-5 38477 0 7.355E-6
3-100542348-T-C p.Thr203Thr synonymous ABI3BP 1 76844 1.30134E-5 38422 0 2.28934E-5
3-100542353-C-T p.Ala202Thr missense ABI3BP 1 76846 1.3013E-5 38423 0 NA
3-100542360-T-A c.599-2A>T splice_acceptor ABI3BP 1 76756 1.30283E-5 38378 0 7.71522E-6
3-100543696-A-T c.598+6T>A splice_region ABI3BP 1 77716 1.28674E-5 38858 0 NA
3-100543723-G-C p.Gln193Glu missense ABI3BP 1 77788 1.28555E-5 38894 0 NA
3-100543726-G-A p.Pro192Ser missense ABI3BP 1 77794 1.28545E-5 38897 0 NA
3-100543730-C-T p.Pro190Pro synonymous ABI3BP 13 77788 1.67121E-4 38894 0 2.23427E-4
3-100543730-C-G p.Pro190Pro synonymous ABI3BP 2 77788 2.57109E-5 38894 0 3.94477E-4
3-100543731-G-A p.Pro190Leu missense ABI3BP 106 77794 0.00136257 38897 1 0.00110969
3-100543731-G-C p.Pro190Arg missense ABI3BP 2 77794 2.57089E-5 38897 0 NA
3-100543745-T-C p.Arg185Arg synonymous ABI3BP 5 77810 6.42591E-5 38905 0 3.18634E-5
3-100543752-C-T p.Arg183His missense ABI3BP 3 77802 3.85594E-5 38901 0 3.60516E-5
3-100543753-G-T p.Arg183Ser missense ABI3BP 1 77806 1.28525E-5 38903 0 NA
3-100543757-A-G p.Pro181Pro synonymous ABI3BP 2 77810 2.57036E-5 38905 0 3.18817E-5
3-100543760-G-A p.Arg180Arg synonymous ABI3BP 3 77804 3.85584E-5 38902 0 1.4419E-5
3-100543761-C-T p.Arg180His missense ABI3BP 6 77800 7.71208E-5 38900 0 3.60657E-5
3-100543762-G-A p.Arg180Cys missense ABI3BP 5 77800 6.42674E-5 38900 0 6.64187E-5
3-100543790-A-C c.515-5T>G splice_region ABI3BP 1 77734 1.28644E-5 38867 0 NA
3-100544624-G-A c.514+5C>T splice_region ABI3BP 2 76622 2.61022E-5 38311 0 3.18471E-5
3-100544627-A-G c.514+2T>C splice_donor ABI3BP 1 76702 1.30375E-5 38351 0 NA
3-100544634-G-T p.Thr170Asn missense ABI3BP 1 76746 1.303E-5 38373 0 7.30524E-6
3-100544641-C-T p.Ala168Thr missense ABI3BP 1 76790 1.30225E-5 38395 0 NA
3-100544671-C-G p.Glu158Gln missense ABI3BP 1 76744 1.30303E-5 38372 0 3.18654E-5
3-100544671-C-T p.Glu158Lys missense ABI3BP 4 76744 5.21213E-5 38372 0 7.30845E-6
3-100544675-G-A p.Asp156Asp synonymous ABI3BP 796 76698 0.0103784 38349 47 0.0356292
3-100544677-C-G p.Asp156His missense ABI3BP 246 76730 0.00320605 38365 1 0.00624283
3-100544682-A-G p.Val154Ala missense ABI3BP 2 76662 2.60885E-5 38331 0 6.33179E-4
3-100544691-G-A c.455-3C>T splice_region ABI3BP 8 76510 1.04561E-4 38255 0 7.0373E-5
3-100544694-G-T c.455-6C>A splice_region ABI3BP 1 76422 1.30852E-5 38211 0 NA
3-100547230-G-T c.454+7C>A splice_region ABI3BP 1 75588 1.32296E-5 37794 0 7.45935E-6
3-100547232-A-G c.454+5T>C splice_region ABI3BP 2 75628 2.64452E-5 37814 0 NA
3-100547236-C-T c.454+1G>A splice_donor ABI3BP 1 75698 1.32104E-5 37849 0 7.4559E-6
3-100547237-C-T p.Val152Ile missense+splice_region ABI3BP 5 75644 6.60991E-5 37822 0 6.71181E-5
3-100547238-G-A p.Phe151Phe splice_region+synonymous ABI3BP 2 75704 2.64187E-5 37852 0 3.18431E-5
3-100547242-G-A p.Thr150Ile missense ABI3BP 3 75754 3.96019E-5 37877 0 NA
3-100547267-G-A p.Pro142Ser missense ABI3BP 6 75788 7.91682E-5 37894 0 6.25E-4
3-100547291-C-A p.Ala134Ser missense ABI3BP 6 75618 7.93462E-5 37809 0 3.18492E-5
3-100548443-C-G p.Glu849Gln missense ABI3BP 25 76802 3.25512E-4 38401 0 3.50475E-4
3-100548446-C-T p.Glu848Lys missense ABI3BP 6 76766 7.81596E-5 38383 0 2.89662E-5
3-100548447-G-A p.Pro847Pro synonymous ABI3BP 2 76742 2.60613E-5 38371 0 6.37592E-5
3-100548460-G-C p.Thr843Ser missense ABI3BP 2 76698 2.60763E-5 38349 0 NA
3-100548475-T-A p.His838Leu missense ABI3BP 1 76488 1.30739E-5 38244 0 NA
3-100548482-G-A p.Arg836Cys missense ABI3BP 2 76280 2.62192E-5 38140 0 3.18634E-5
3-100548484-T-C p.His835Arg missense ABI3BP 11583 75620 0.153174 37810 981 0.216875
3-100548490-C-T p.Arg833Gln missense ABI3BP 1 76084 1.31434E-5 38042 0 7.26269E-6
3-100548514-G-A c.2480-6C>T splice_region ABI3BP 1 75208 1.32965E-5 37604 0 NA
3-100549417-A-G c.394+5T>C splice_region ABI3BP 1 76214 1.31209E-5 38107 0 7.44546E-6
3-100549428-T-C p.Thr130Ala missense ABI3BP 2 76268 2.62233E-5 38134 0 7.44535E-6
3-100549461-C-T p.Glu119Lys missense ABI3BP 2 76142 2.62667E-5 38071 0 3.18796E-5
3-100549462-G-A p.Leu118Leu synonymous ABI3BP 1 76126 1.31361E-5 38063 0 2.98209E-5
3-100549479-C-A c.338-1G>T splice_acceptor ABI3BP 1 75986 1.31603E-5 37993 0 NA
3-100549481-G-A c.338-3C>T splice_region ABI3BP 1 75848 1.31843E-5 37924 0 7.50176E-6
3-100549486-A-C c.338-8T>G splice_region ABI3BP 1 75834 1.31867E-5 37917 0 NA
3-100551100-A-G c.337+8T>C splice_region ABI3BP 1 77424 1.29159E-5 38712 0 NA
3-100551123-G-GTAC p.Val107dup conservative_inframe_insertion ABI3BP 2 77494 2.58084E-5 38747 0 NA
3-100551124-T-A p.Val107Val synonymous ABI3BP 1 77500 1.29032E-5 38750 0 NA
3-100551127-T-G p.Glu106Asp missense ABI3BP 17 77500 2.19355E-4 38750 0 2.04445E-4
3-100551133-A-G p.His104His synonymous ABI3BP 2 77502 2.58058E-5 38751 0 NA
3-100551135-G-A p.His104Tyr missense ABI3BP 1 77506 1.29022E-5 38753 0 NA
3-100551140-G-A p.Thr102Met missense ABI3BP 3 77512 3.87037E-5 38756 0 1.02209E-4
3-100551140-G-T p.Thr102Lys missense ABI3BP 1 77512 1.29012E-5 38756 0 NA
3-100551141-T-C p.Thr102Ala missense ABI3BP 5 77508 6.45095E-5 38754 0 9.56145E-5
3-100551148-AG-A p.Pro99fs frameshift ABI3BP 1 77502 1.29029E-5 38751 0 NA
3-100551149-G-A p.Pro99Leu missense ABI3BP 1 77502 1.29029E-5 38751 0 NA
3-100551155-G-A p.Pro97Leu missense ABI3BP 2 77494 2.58084E-5 38747 0 NA
3-100551159-G-A p.His96Tyr missense ABI3BP 2 77482 2.58124E-5 38741 0 NA
3-100551164-C-A p.Arg94Leu missense ABI3BP 3 77470 3.87247E-5 38735 0 7.3014E-6
3-100551165-G-A p.Arg94Cys missense ABI3BP 3 77472 3.87237E-5 38736 0 9.57365E-5
3-100551167-C-T p.Arg93His missense ABI3BP 9 77462 1.16186E-4 38731 0 5.1118E-5
3-100551169-G-C p.Thr92Thr synonymous ABI3BP 2 77462 2.58191E-5 38731 0 3.19407E-5
3-100551176-TTTG-T p.Thr89del disruptive_inframe_deletion ABI3BP 951 77418 0.012284 38709 25 0.0252184
3-100551176-T-TTTG p.Thr89dup conservative_inframe_insertion ABI3BP 3 77454 3.87327E-5 38727 0 5.85163E-5
3-100551185-G-T p.Thr87Lys missense ABI3BP 1 77416 1.29172E-5 38708 0 NA
3-100551188-G-T p.Thr86Lys missense ABI3BP 1 77396 1.29206E-5 38698 0 NA
3-100551188-G-A p.Thr86Ile missense ABI3BP 2 77396 2.58411E-5 38698 0 7.31593E-6
3-100551192-G-C p.Pro85Ala missense+splice_region ABI3BP 1 77356 1.29272E-5 38678 0 NA
3-100551967-A-G c.250+2T>C splice_donor ABI3BP 1 75730 1.32048E-5 37865 0 NA
3-100551976-T-C p.Thr81Thr synonymous ABI3BP 1 75712 1.32079E-5 37856 0 1.46666E-5
3-100551988-A-G p.Ile77Ile synonymous ABI3BP 2 75694 2.64222E-5 37847 0 NA
3-100552002-C-T c.218-1G>A splice_acceptor ABI3BP 133 75720 0.00175647 37860 5 0.00417277
3-100553530-A-G p.Leu72Pro missense+splice_region ABI3BP 1 77498 1.29036E-5 38749 0 NA
3-100553537-T-C p.Thr70Ala missense ABI3BP 4 77542 5.15849E-5 38771 0 NA
3-100553545-G-A p.Thr67Ile missense ABI3BP 1 77564 1.28926E-5 38782 0 NA
3-100553554-C-A p.Arg64Leu missense ABI3BP 3 77566 3.86767E-5 38783 0 2.33369E-4
3-100553554-C-T p.Arg64His missense ABI3BP 1 77566 1.28922E-5 38783 0 2.18783E-5
3-100553555-G-A p.Arg64Cys missense ABI3BP 29 77578 3.73817E-4 38789 0 8.28395E-4
3-100553557-G-C p.Pro63Arg missense ABI3BP 1 77580 1.28899E-5 38790 0 4.37356E-5
3-100553560-G-A p.Thr62Met missense ABI3BP 2 77580 2.57798E-5 38790 0 2.69668E-4
3-100553563-G-A p.Thr61Ile missense ABI3BP 2 77582 2.57792E-5 38791 0 3.18471E-5
3-100553563-G-T p.Thr61Asn missense ABI3BP 1 77582 1.28896E-5 38791 0 NA
3-100553569-T-C p.His59Arg missense ABI3BP 4 77588 5.15544E-5 38794 0 1.40174E-4
3-100553574-G-A p.Pro57Pro synonymous ABI3BP 1 77590 1.28883E-5 38795 0 NA
3-100553578-C-T p.Arg56His missense ABI3BP 10 77588 1.28886E-4 38794 0 2.62368E-4
3-100553579-G-A p.Arg56Cys missense ABI3BP 2 77590 2.57765E-5 38795 0 9.55475E-5
3-100553583-A-C p.Arg54Arg synonymous ABI3BP 1 77588 1.28886E-5 38794 0 7.70632E-4
3-100553584-C-T p.Arg54His missense ABI3BP 3 77590 3.86648E-5 38795 0 2.18659E-5
3-100553585-G-A p.Arg54Cys missense ABI3BP 3 77586 3.86668E-5 38793 0 1.27397E-4
3-100553587-C-T p.Arg53His missense ABI3BP 7 77586 9.02225E-5 38793 0 1.91144E-4
3-100553588-G-A p.Arg53Cys missense ABI3BP 3 77588 3.86658E-5 38794 0 4.37267E-5
3-100553599-C-T p.Arg49Gln missense ABI3BP 3 77590 3.86648E-5 38795 0 6.25E-4
3-100553600-G-A p.Arg49* stop_gained ABI3BP 10 77584 1.28893E-4 38792 0 6.25E-4
3-100553601-T-C p.Gln48Gln synonymous ABI3BP 1 77592 1.28879E-5 38796 0 1.4579E-5
3-100553604-C-A p.Ser47Ser synonymous ABI3BP 2 77578 2.57805E-5 38789 0 3.18674E-5
3-100553604-C-T p.Ser47Ser synonymous ABI3BP 1 77578 1.28903E-5 38789 0 2.18719E-5
3-100553605-G-A p.Ser47Leu missense ABI3BP 9 77584 1.16003E-4 38792 0 6.25E-4
3-100553612-T-C p.Lys45Glu missense ABI3BP 1 77582 1.28896E-5 38791 0 2.18729E-5
3-100554449-T-A p.Thr41Thr synonymous ABI3BP 1 75596 1.32282E-5 37798 0 NA
3-100554456-A-C p.Val39Gly missense ABI3BP 1 75652 1.32184E-5 37826 0 7.14286E-5
3-100554457-C-G p.Val39Leu missense ABI3BP 1 75652 1.32184E-5 37826 0 NA
3-100554459-G-GAAC p.Thr38delinsSerSer conservative_inframe_insertion ABI3BP 1 75672 1.32149E-5 37836 0 7.3402E-6
3-100554459-G-A p.Thr38Ile missense ABI3BP 1 75672 1.32149E-5 37836 0 NA
3-100554461-A-ATAT p.Ala37_Thr38insTyr disruptive_inframe_insertion ABI3BP 1 75672 1.32149E-5 37836 0 7.33342E-6
3-100554462-G-T p.Ala37Asp missense ABI3BP 1 75664 1.32163E-5 37832 0 7.3388E-6
3-100554463-C-T p.Ala37Thr missense ABI3BP 1 75682 1.32132E-5 37841 0 7.33805E-6
3-100554464-C-T p.Glu36Glu synonymous ABI3BP 1 75676 1.32142E-5 37838 0 NA
3-100554468-G-A p.Thr35Ile missense ABI3BP 2 75698 2.64208E-5 37849 0 NA
3-100554475-C-T p.Val33Met missense ABI3BP 1 75658 1.32174E-5 37829 0 3.1841E-5
3-100554475-C-G p.Val33Leu missense ABI3BP 1 75658 1.32174E-5 37829 0 NA
3-100554495-G-C p.Thr26Arg missense ABI3BP 1 75612 1.32254E-5 37806 0 NA
3-100555970-A-G p.Ile22Thr missense+splice_region ABI3BP 1 75838 1.3186E-5 37919 0 1.47931E-5
3-100555977-T-C p.Met20Val missense ABI3BP 1 75988 1.316E-5 37994 0 3.18451E-5
3-100555980-A-G p.Ser19Pro missense ABI3BP 1 76020 1.31544E-5 38010 0 NA
3-100555983-G-C p.Pro18Ala missense ABI3BP 1 76026 1.31534E-5 38013 0 7.37986E-6
3-100555986-C-T p.Ala17Thr missense ABI3BP 2 76026 2.63068E-5 38013 0 NA
3-100555988-T-C p.Glu16Gly missense ABI3BP 1 76008 1.31565E-5 38004 0 NA
3-100556011-A-G p.Ser8Ser synonymous ABI3BP 1 76098 1.31409E-5 38049 0 NA
3-100557047-T-C c.19+7A>G splice_region ABI3BP 1 77278 1.29403E-5 38639 0 NA
3-100557054-C-T p.Val7Ile missense+splice_region ABI3BP 9 77374 1.16318E-4 38687 0 3.50318E-4
3-100557055-G-A p.Ser6Ser splice_region+synonymous ABI3BP 3 77410 3.87547E-5 38705 0 0.00125
3-100557056-G-A p.Ser6Phe missense+splice_region ABI3BP 2 77450 2.58231E-5 38725 0 1.72946E-4
3-100557056-G-C p.Ser6Cys missense+splice_region ABI3BP 1 77450 1.29116E-5 38725 0 7.20606E-6
3-100557058-T-C p.Lys5Lys synonymous ABI3BP 1 77492 1.29046E-5 38746 0 7.20171E-6
3-100557062-G-A p.Thr4Ile missense ABI3BP 1 77560 1.28932E-5 38780 0 NA
3-100557073-G-A p.Asp695Asp synonymous ABI3BP 1 77688 1.2872E-5 38844 0 NA
3-100557086-G-C p.Thr691Arg missense ABI3BP 2 77748 2.57241E-5 38874 0 NA
3-100557088-G-T p.Thr690Thr synonymous ABI3BP 33 77752 4.24426E-4 38876 0 8.91606E-4
3-100557105-G-T p.Leu685Ile missense ABI3BP 6 77780 7.71407E-5 38890 0 1.27372E-4
3-100557114-T-C p.Lys682Glu missense ABI3BP 1 77782 1.28564E-5 38891 0 NA
3-100557115-T-C p.Pro681Pro synonymous ABI3BP 1 77780 1.28568E-5 38890 0 4.30688E-5
3-100557117-G-A p.Pro681Ser missense ABI3BP 5 77774 6.42888E-5 38887 0 NA
3-100557238-A-G c.-57+8T>C splice_region ABI3BP 1 77706 1.2869E-5 38853 0 3.1837E-5
3-100557247-A-G p.Pro676Pro splice_region+synonymous ABI3BP 212 77712 0.00272802 38856 0 0.00423486
3-100557251-T-C p.Gln675Arg missense ABI3BP 3 77702 3.8609E-5 38851 0 NA
3-100557256-T-C p.Gln673Gln synonymous ABI3BP 1 77698 1.28703E-5 38849 0 NA
3-100557265-A-C p.Asp670Glu missense ABI3BP 1 77692 1.28713E-5 38846 0 NA
3-100557279-T-C p.Thr666Ala missense ABI3BP 1 77662 1.28763E-5 38831 0 7.30183E-6
3-100557288-G-A p.Pro663Ser missense ABI3BP 2 77610 2.57699E-5 38805 0 2.19276E-5
3-100557297-A-G p.Ser660Pro missense ABI3BP 1 77562 1.28929E-5 38781 0 NA
3-100557303-T-C p.Lys658Glu missense ABI3BP 1 77510 1.29016E-5 38755 0 NA
3-100557305-G-A p.Ser657Leu missense ABI3BP 33 77488 4.25872E-4 38744 0 8.92174E-4
3-100557315-A-C c.-119-7T>G splice_region ABI3BP 5 77318 6.4668E-5 38659 0 6.36983E-5
3-100558412-C-T c.-120+1G>A splice_donor ABI3BP 32 77246 4.14261E-4 38623 0 4.77798E-4
3-100558416-T-C p.Thr655Ala missense ABI3BP 17008 76976 0.220952 38488 1943 0.2925
3-100558435-C-T p.Pro648Pro synonymous ABI3BP 1 77278 1.29403E-5 38639 0 NA
3-100558443-T-C p.Ile646Val missense ABI3BP 3 77272 3.88239E-5 38636 0 NA
3-100558444-C-T p.Thr645Thr synonymous ABI3BP 8 77254 1.03555E-4 38627 0 2.91464E-5
3-100558448-G-T p.Ala644Asp missense ABI3BP 8 77252 1.03557E-4 38626 0 4.81239E-4
3-100558913-T-C c.1918+3A>G splice_region ABI3BP 567 76588 0.00740325 38294 6 0.0275181
3-100558914-A-G c.1918+2T>C splice_donor ABI3BP 5 76560 6.53083E-5 38280 0 7.35565E-6
3-100558916-C-T p.Ala640Thr missense+splice_region ABI3BP 3 76552 3.9189E-5 38276 0 3.31411E-5
3-100558917-G-C p.Pro639Pro splice_region+synonymous ABI3BP 1 76564 1.3061E-5 38282 0 NA
3-100558917-G-A p.Pro639Pro splice_region+synonymous ABI3BP 1 76564 1.3061E-5 38282 0 7.05219E-5
3-100558921-T-A p.Lys638Ile missense ABI3BP 8 76608 1.04428E-4 38304 0 1.29157E-4
3-100558950-GGT-G p.Thr628fs frameshift ABI3BP 1 76266 1.3112E-5 38133 0 NA
3-100558955-T-G p.Lys627Gln missense ABI3BP 1 76082 1.31437E-5 38041 0 9.15852E-6
3-100558956-A-G p.Pro626Pro synonymous ABI3BP 1 75862 1.31818E-5 37931 0 1.95895E-4
3-100558960-C-T p.Arg625His missense ABI3BP 2 75892 2.63532E-5 37946 0 1.31596E-4
3-100558961-G-A p.Arg625Cys missense ABI3BP 2 76246 2.62309E-5 38123 0 3.19693E-5
3-100558964-G-T p.Pro624Thr missense ABI3BP 1 76242 1.31161E-5 38121 0 NA
3-100558965-A-ACGGGGG p.Arg623_Pro624insProArg disruptive_inframe_insertion ABI3BP 1 76014 1.31555E-5 38007 0 7.24428E-5
3-100558966-C-T p.Arg623His missense ABI3BP 2 75786 2.63901E-5 37893 0 1.10233E-4
3-100558967-G-A p.Arg623Cys missense ABI3BP 8 76426 1.04676E-4 38213 0 4.1584E-4
3-100558972-C-T p.Arg621His missense ABI3BP 4 76048 5.25984E-5 38024 0 1.23839E-5
3-100558973-G-A p.Arg621Cys missense ABI3BP 2 76434 2.61664E-5 38217 0 1.59806E-4
3-100558975-G-A p.Pro620Leu missense ABI3BP 1 76474 1.30763E-5 38237 0 4.56558E-5
3-100558978-C-T p.Arg619His missense ABI3BP 4 76562 5.22452E-5 38281 0 7.43384E-5
3-100558979-G-A p.Arg619Cys missense ABI3BP 2 76604 2.61083E-5 38302 0 3.18939E-5
3-100558981-C-T p.Arg618His missense ABI3BP 3 76590 3.91696E-5 38295 0 3.18857E-5
3-100558986-T-C p.Pro616Pro synonymous ABI3BP 2 76686 2.60804E-5 38343 0 1.2747E-4
3-100559003-G-A p.Arg611* stop_gained ABI3BP 1 76654 1.30456E-5 38327 0 3.18674E-5
3-100559011-GAAGA-G c.1826-7_1826-4delTCTT splice_region ABI3BP 6 76668 7.82595E-5 38334 0 3.18471E-5
3-100559663-C-A c.-168+1G>T splice_donor ABI3BP 1 76796 1.30215E-5 38398 0 9.56206E-5
3-100559667-ATGT-A p.Thr607del conservative_inframe_deletion ABI3BP 4 76802 5.2082E-5 38401 0 6.68896E-4
3-100559678-G-A p.Pro604Leu missense ABI3BP 3 76874 3.90249E-5 38437 0 1.95712E-4
3-100560844-A-G p.Ile595Thr missense+splice_region ABI3BP 1 76652 1.3046E-5 38326 0 7.30247E-6
3-100560853-T-A p.Gln592Leu missense ABI3BP 1 76780 1.30242E-5 38390 0 NA
3-100560854-G-T p.Gln592Lys missense ABI3BP 1 76790 1.30225E-5 38395 0 2.19036E-5
3-100560860-G-A p.Pro590Ser missense ABI3BP 7108 76376 0.0930659 38188 350 0.0855911
3-100560861-C-T p.Leu589Leu synonymous ABI3BP 1 76796 1.30215E-5 38398 0 NA
3-100560884-C-G c.-248-1G>C splice_acceptor ABI3BP 1 76596 1.30555E-5 38298 0 NA
3-100560885-T-C c.-248-2A>G splice_acceptor ABI3BP 2 76612 2.61056E-5 38306 0 NA
3-100565233-A-C p.Val527Gly missense ABI3BP 3 81900 3.663E-5 40950 0 4.80338E-5
3-100565235-T-A p.Glu526Asp missense ABI3BP 1 81982 1.21978E-5 40991 0 NA
3-100565246-G-A p.Leu523Phe missense ABI3BP 1 82000 1.21951E-5 41000 0 4.24052E-6
3-100565278-G-A p.Thr512Ile missense ABI3BP 395 81834 0.00482684 40917 6 0.0107753
3-100565285-C-T p.Gly510Ser missense ABI3BP 6 81726 7.3416E-5 40863 0 2.86721E-4
3-100565285-C-G p.Gly510Arg missense ABI3BP 1 81726 1.2236E-5 40863 0 2.04801E-5
3-100565286-G-A p.Pro509Pro synonymous ABI3BP 18 81742 2.20205E-4 40871 0 0.00303951
3-100565295-A-G c.1523-5T>C splice_region ABI3BP 1 81590 1.22564E-5 40795 0 1.08195E-5
3-100566439-T-C c.1522+7A>G splice_region ABI3BP 1 81844 1.22184E-5 40922 0 NA
3-100566443-T-C c.1522+3A>G splice_region ABI3BP 1 81868 1.22148E-5 40934 0 1.20472E-5
3-100566444-A-T c.1522+2T>A splice_donor ABI3BP 4 81902 4.88389E-5 40951 0 8.28349E-6
3-100566447-C-T p.Pro507Pro splice_region+synonymous ABI3BP 3 81918 3.6622E-5 40959 0 0.00100705
3-100566448-G-A p.Pro507Leu missense+splice_region ABI3BP 5 81936 6.10232E-5 40968 0 9.55475E-5
3-100566449-G-A p.Pro507Ser missense ABI3BP 5 81958 6.10069E-5 40979 0 1.65662E-5
3-100566451-G-A p.Thr506Ile missense ABI3BP 2 81988 2.43938E-5 40994 0 NA
3-100566454-G-T p.Thr505Lys missense ABI3BP 1 82018 1.21924E-5 41009 0 NA
3-100566456-C-T p.Trp504* stop_gained ABI3BP 1 82048 1.2188E-5 41024 0 NA
3-100566481-A-G p.Ile496Thr missense ABI3BP 15 82108 1.82686E-4 41054 0 2.22944E-4
3-100566482-T-C p.Ile496Val missense ABI3BP 1 82112 1.21785E-5 41056 0 NA
3-100566489-T-C p.Thr493Thr synonymous ABI3BP 21 82116 2.55736E-4 41058 0 8.9172E-4
3-100566500-C-T p.Gly490Arg missense ABI3BP 220 82062 0.0026809 41031 0 0.0075
3-100566503-C-A p.Ala489Ser missense ABI3BP 2 82056 2.43736E-5 41028 0 NA
3-100566521-G-A c.1451-4C>T splice_region ABI3BP 3 81840 3.66569E-5 40920 0 6.82939E-5
3-100567639-A-C c.1450+6T>G splice_region ABI3BP 1 82500 1.21212E-5 41250 0 NA
3-100567641-TTAC-T c.1450+1_1450+3delGTA splice_donor ABI3BP 1 82514 1.21192E-5 41257 0 NA
3-100567641-T-G c.1450+4A>C splice_region ABI3BP 6 82514 7.27149E-5 41257 0 7.469E-5
3-100567643-A-AAATATAAAGAG c.1450+1_1450+2insCTCTTTATATT splice_donor ABI3BP 6 82530 7.27008E-5 41265 0 4.14883E-5
3-100567644-C-A c.1450+1G>T splice_donor ABI3BP 6 82544 7.26885E-5 41272 0 4.14848E-5
3-100567646-AGG-A p.Pro483fs frameshift ABI3BP 6 82558 7.26762E-5 41279 0 7.46553E-5
3-100567648-G-A p.Pro483Ser missense ABI3BP 1 82572 1.21106E-5 41286 0 8.29531E-6
3-100567651-TG-CA p.ThrLys481ThrGlu missense ABI3BP 4 82584 4.84355E-5 41292 0 NA
3-100567651-T-C p.Lys482Glu missense ABI3BP 2 82584 2.42178E-5 41292 0 4.14635E-5
3-100567652-G-A p.Thr481Thr synonymous ABI3BP 2 82582 2.42184E-5 41291 0 4.14642E-5
3-100567661-C-T p.Pro478Pro synonymous ABI3BP 1 82574 1.21103E-5 41287 0 1.60736E-5
3-100567662-G-A p.Pro478Leu missense ABI3BP 6 82594 7.26445E-5 41297 0 1.49234E-4
3-100567663-G-A p.Pro478Ser missense ABI3BP 1 82596 1.21071E-5 41298 0 NA
3-100567667-G-C p.Pro476Pro synonymous ABI3BP 3 82596 3.63214E-5 41298 0 4.016E-6
3-100567669-G-A p.Pro476Ser missense ABI3BP 1 82598 1.21068E-5 41299 0 NA
3-100567671-C-T p.Arg475Gln missense ABI3BP 43 82588 5.20657E-4 41294 0 0.00117917
3-100567672-G-A p.Arg475Trp missense ABI3BP 1 82588 1.21083E-5 41294 0 1.6578E-5
3-100567676-G-A p.Arg473Arg synonymous ABI3BP 6 82624 7.26181E-5 41312 0 9.63894E-5
3-100567676-G-T p.Arg473Arg synonymous ABI3BP 3 82624 3.63091E-5 41312 0 6.25E-4
3-100567677-C-T p.Arg473His missense ABI3BP 2 82604 2.42119E-5 41302 0 6.25E-4
3-100567678-G-A p.Arg473Cys missense ABI3BP 4 82608 4.84215E-5 41304 0 3.1841E-5
3-100567680-C-T p.Arg472Gln missense ABI3BP 2 82608 2.42107E-5 41304 0 4.01735E-6
3-100567681-G-A p.Arg472* stop_gained ABI3BP 4 82610 4.84203E-5 41305 0 1.16027E-4
3-100567689-G-A p.Thr469Ile missense ABI3BP 1 82634 1.21016E-5 41317 0 8.28789E-6
3-100567707-G-A p.Thr463Ile missense ABI3BP 17 82654 2.05677E-4 41327 0 1.24393E-4
3-100568895-T-C p.Thr457Ala missense ABI3BP 1 82078 1.21835E-5 41039 0 2.04507E-5
3-100568897-G-A p.Thr456Met missense ABI3BP 48 82094 5.84696E-4 41047 0 0.00151057
3-100568912-G-A p.Pro451Leu missense ABI3BP 1 82200 1.21655E-5 41100 0 NA
3-100568923-G-A p.Ile447Ile synonymous ABI3BP 4 82200 4.86618E-5 41100 0 9.04609E-5
3-100568951-G-A p.Thr438Ile missense ABI3BP 1 82082 1.21829E-5 41041 0 NA
3-100568961-G-A p.Pro435Ser missense+splice_region ABI3BP 1 82036 1.21898E-5 41018 0 2.61035E-5
3-100568966-G-A c.1301-3C>T splice_region ABI3BP 1 81992 1.21963E-5 40996 0 NA
3-100569500-T-C c.1300+4A>G splice_region ABI3BP 1 81498 1.22702E-5 40749 0 NA
3-100569520-C-A p.Gln428His missense ABI3BP 1 81872 1.22142E-5 40936 0 4.15275E-5
3-100569520-C-G p.Gln428His missense ABI3BP 2 81872 2.44284E-5 40936 0 NA
3-100569524-T-C p.Glu427Gly missense ABI3BP 1 81862 1.22157E-5 40931 0 NA
3-100569528-G-A p.Leu426Phe missense ABI3BP 6 81912 7.32493E-5 40956 0 5.04032E-4
3-100569543-T-C p.Lys421Glu missense ABI3BP 1 81980 1.21981E-5 40990 0 NA
3-100569546-G-T p.Pro420Thr missense ABI3BP 1 81998 1.21954E-5 40999 0 1.20514E-5
3-100569552-T-C p.Ile418Val missense ABI3BP 4 81948 4.88114E-5 40974 0 3.32082E-5
3-100569553-A-G p.Ser417Ser synonymous ABI3BP 1 81956 1.22017E-5 40978 0 3.18532E-5
3-100569554-G-C p.Ser417Cys missense ABI3BP 1 81956 1.22017E-5 40978 0 8.30261E-6
3-100569557-T-C p.Asp416Gly missense ABI3BP 1 81962 1.22008E-5 40981 0 NA
3-100569559-C-T p.Leu415Leu synonymous ABI3BP 1 81958 1.22014E-5 40979 0 3.19224E-5
3-100569564-T-A p.Ile414Phe missense ABI3BP 1 81908 1.22088E-5 40954 0 8.30606E-6
3-100569566-C-T p.Arg413His missense ABI3BP 1 81846 1.22181E-5 40923 0 0.00100806
3-100570718-CCTGTGTAGGAAT-C p.Asp405_Thr408del disruptive_inframe_deletion ABI3BP 1 82098 1.21806E-5 41049 0 NA
3-100570720-T-C p.Thr408Thr splice_region+synonymous ABI3BP 1 82100 1.21803E-5 41050 0 NA
3-100570724-T-A p.Tyr407Phe missense ABI3BP 1 82092 1.21815E-5 41046 0 7.3062E-5
3-100570728-A-C p.Ser406Ala missense ABI3BP 1 82130 1.21758E-5 41065 0 3.19673E-5
3-100570734-A-G p.Ser404Pro missense ABI3BP 1 82106 1.21794E-5 41053 0 1.81475E-5
3-100570742-G-C p.Pro401Arg missense ABI3BP 2 82112 2.4357E-5 41056 1 NA
3-100570743-G-C p.Pro401Ala missense ABI3BP 1 82102 1.218E-5 41051 0 4.62295E-6
3-100570754-G-A p.Thr397Ile missense ABI3BP 1 82008 1.21939E-5 41004 0 4.77086E-6
3-100570769-A-G p.Phe392Ser missense ABI3BP 1 82022 1.21919E-5 41011 0 3.23583E-5
3-100570773-C-T p.Val391Ile missense ABI3BP 1 81972 1.21993E-5 40986 0 NA
3-100570777-A-G p.Tyr389Tyr synonymous ABI3BP 1 81942 1.22038E-5 40971 0 NA
3-100570780-AGTTGCTT-A p.Ala387fs frameshift ABI3BP 1 81916 1.22076E-5 40958 0 NA
3-100570782-T-C p.Thr388Ala missense+splice_region ABI3BP 1 81842 1.22187E-5 40921 0 NA
3-100570787-T-TA c.1160-4_1160-3insT splice_region ABI3BP 1501 79350 0.0189162 39675 67 0.0781294
3-100570787-TA-T c.1160-4delT splice_region ABI3BP 1122 69910 0.0160492 34955 0 0.192308
3-100570787-T-TAAA c.1160-4_1160-3insTTT splice_region ABI3BP 9650 80870 0.119327 40435 1080 0.187792
3-100570787-TAA-T c.1160-5_1160-4delTT splice_region ABI3BP 21 81516 2.57618E-4 40758 0 NA
3-100570787-T-TAAAA c.1160-4_1160-3insTTTT splice_region ABI3BP 2141 81540 0.0262571 40770 194 0.0472189
3-100570787-T-TAA c.1160-4_1160-3insTT splice_region ABI3BP 3681 81170 0.0453493 40585 352 0.0972102
3-100570787-T-TAAAAA c.1160-4_1160-3insTTTTT splice_region ABI3BP 70 81686 8.5694E-4 40843 2 0.00249324
3-100570787-T-TAAAAAAA c.1160-4_1160-3insTTTTTTT splice_region ABI3BP 1 81698 1.22402E-5 40849 0 NA
3-100570787-TAAA-T c.1160-6_1160-4delTTT splice_region ABI3BP 2 81676 2.4487E-5 40838 0 NA
3-100570787-T-TAAAAAA c.1160-4_1160-3insTTTTTT splice_region ABI3BP 6 81698 7.34412E-5 40849 0 NA
3-100570787-T-TTAAA c.1160-4_1160-3insTTTA splice_region ABI3BP 1 81698 1.22402E-5 40849 0 NA
3-100570787-T-TAAAAAAAAAAA c.1160-4_1160-3insTTTTTTTTTTT splice_region ABI3BP 3 81698 3.67206E-5 40849 1 NA
3-100570787-T-TAAAAAAAAAAAAAAAA c.1160-4_1160-3insTTTTTTTTTTTTTTTT splice_region ABI3BP 2 81698 2.44804E-5 40849 0 NA
3-100570787-T-TAAAAAAAAAAAAAAAAAAAA c.1160-4_1160-3insTTTTTTTTTTTTTTTTTTTT splice_region ABI3BP 1 81698 1.22402E-5 40849 0 NA
3-100570787-T-TAAAAAAAAAAAAAAAAAAA c.1160-4_1160-3insTTTTTTTTTTTTTTTTTTT splice_region ABI3BP 1 81698 1.22402E-5 40849 0 NA
3-100581185-C-T p.Glu377Lys missense ABI3BP 1 81844 1.22184E-5 40922 0 NA
3-100581185-C-G p.Glu377Gln missense ABI3BP 1 81844 1.22184E-5 40922 0 5.60287E-5
3-100581209-T-C p.Ile369Val missense ABI3BP 4 81828 4.8883E-5 40914 0 2.7901E-5
3-100581221-C-T p.Glu365Lys missense ABI3BP 4 81748 4.89309E-5 40874 0 2.89129E-4
3-100581224-T-C p.Ser364Gly missense ABI3BP 3 81676 3.67305E-5 40838 0 3.1902E-5
3-100581261-AT-A n.3544delA splice_region ABI3BP 19054 61642 0.309107 30821 1277 0.461179
3-100581261-ATT-A n.3543_3544delAA splice_region ABI3BP 1514 79666 0.0190043 39833 9 0.0349501
3-100581261-A-AT n.3544dupA splice_region ABI3BP 59 79304 7.43973E-4 39652 0 0.0136426
3-100581261-ATTT-A n.3542_3544delAAA splice_region ABI3BP 4 79746 5.01593E-5 39873 0 2.42633E-4
3-100581681-C-T c.25+1G>A splice_donor ABI3BP 2 77044 2.59592E-5 38522 0 7.05219E-5
3-100581685-A-G p.Leu8Leu synonymous ABI3BP 1 77024 1.2983E-5 38512 0 7.04722E-5
3-100581690-C-A p.Gly6Val missense ABI3BP 2 77038 2.59612E-5 38519 0 7.31315E-6
3-100581693-C-T p.Arg5Lys missense ABI3BP 1 77078 1.29739E-5 38539 0 3.18634E-5
3-100581695-A-G p.Pro4Pro synonymous ABI3BP 2 77074 2.59491E-5 38537 0 1.46203E-5
3-100581701-C-T p.Glu2Glu synonymous ABI3BP 14 77092 1.81601E-4 38546 0 2.33922E-4
3-100581709-G-A p.Pro402Ser missense ABI3BP 1 77106 1.29692E-5 38553 0 7.30866E-6
3-100581716-T-A p.Thr399Thr synonymous ABI3BP 7 77114 9.07747E-5 38557 0 4.38423E-5
3-100581717-G-T p.Thr399Lys missense ABI3BP 3 77118 3.89014E-5 38559 0 7.31048E-6
3-100581729-G-A p.Pro395Leu missense ABI3BP 3 77106 3.89075E-5 38553 0 4.22178E-4
3-100581743-G-A p.Ser390Ser synonymous ABI3BP 1 77068 1.29756E-5 38534 0 NA
3-100582854-C-T p.Ser384Asn missense ABI3BP 2 76796 2.6043E-5 38398 0 NA
3-100582862-C-T p.Leu381Leu synonymous ABI3BP 1 76892 1.30053E-5 38446 0 1.44808E-5
3-100582869-A-C p.Phe379Cys missense ABI3BP 4 76978 5.19629E-5 38489 0 6.3674E-5
3-100582871-C-T p.Gln378Gln synonymous ABI3BP 1 76980 1.29904E-5 38490 0 7.23348E-6
3-100582871-CTG-C p.Gln378fs frameshift ABI3BP 1 76980 1.29904E-5 38490 0 NA
3-100582881-A-C p.Leu375Arg missense ABI3BP 1 77070 1.29752E-5 38535 0 7.22616E-6
3-100582891-G-T p.Gln372Lys missense ABI3BP 2 77098 2.5941E-5 38549 0 7.22637E-6
3-100582891-G-C p.Gln372Glu missense ABI3BP 1 77098 1.29705E-5 38549 0 NA
3-100582898-T-C p.Glu369Glu synonymous ABI3BP 1 77072 1.29749E-5 38536 0 NA
3-100582901-C-T p.Pro368Pro synonymous ABI3BP 7 77044 9.08572E-5 38522 0 6.76498E-5
3-100582902-G-A p.Pro368Leu missense ABI3BP 36 77032 4.67338E-4 38516 0 0.00108363
3-100583680-G-C p.Leu361Val missense ABI3BP 2 81322 2.45936E-5 40661 0 1.10098E-5
3-100583686-T-C p.Thr359Ala missense ABI3BP 1 81408 1.22838E-5 40704 0 NA
3-100583690-T-C p.Ser357Ser synonymous ABI3BP 27 81448 3.315E-4 40724 0 0.0015944
3-100583699-T-C p.Leu354Leu synonymous ABI3BP 54 81536 6.62284E-4 40768 0 0.00471518
3-100583710-A-G p.Ser351Pro missense ABI3BP 1 81630 1.22504E-5 40815 0 1.0506E-5
3-100583711-C-T p.Thr350Thr synonymous ABI3BP 11 81618 1.34774E-4 40809 0 0.00100908
3-100583712-G-A p.Thr350Met missense ABI3BP 2 81598 2.45104E-5 40799 0 5.04541E-4
3-100583714-A-G p.Thr349Thr synonymous ABI3BP 1 81662 1.22456E-5 40831 0 4.11953E-6
3-100583718-G-C p.Pro348Arg missense ABI3BP 3 81708 3.67161E-5 40854 0 NA
3-100583719-G-T p.Pro348Thr missense ABI3BP 1 81712 1.22381E-5 40856 0 NA
3-100583724-G-A p.Thr346Ile missense ABI3BP 1 81678 1.22432E-5 40839 0 NA
3-100583730-C-T p.Arg344Lys missense ABI3BP 1 81610 1.22534E-5 40805 0 1.11892E-5
3-100583743-C-T p.Glu340Lys missense ABI3BP 2 81600 2.45098E-5 40800 0 NA
3-100583745-G-A p.Pro339Leu missense ABI3BP 2 81566 2.452E-5 40783 0 4.99338E-5
3-100583751-A-G p.Val337Ala missense+splice_region ABI3BP 1 81456 1.22766E-5 40728 0 NA
3-100583758-G-A c.1010-7C>T splice_region ABI3BP 31 81322 3.81201E-4 40661 0 4.14382E-4
3-100585716-T-C c.1009+7A>G splice_region ABI3BP 1 81836 1.22196E-5 40918 0 8.31822E-6
3-100585723-C-G p.Val337Leu missense+splice_region ABI3BP 9 81902 1.09887E-4 40951 0 9.55231E-5
3-100585740-G-C p.Ser331* stop_gained ABI3BP 1 81984 1.21975E-5 40992 0 NA
3-100585752-A-G p.Val327Ala missense ABI3BP 2 82036 2.43795E-5 41018 0 0.00100705
3-100585771-C-T p.Glu321Lys missense ABI3BP 7 82074 8.52889E-5 41037 0 4.16015E-5
3-100585771-C-A p.Glu321* stop_gained ABI3BP 1 82074 1.21841E-5 41037 0 NA
3-100585772-G-A p.Ala320Ala synonymous ABI3BP 5 82058 6.09325E-5 41029 0 1.27413E-4
3-100585773-G-A p.Ala320Val missense ABI3BP 1 82068 1.2185E-5 41034 0 NA
3-100585775-A-G p.Pro319Pro synonymous ABI3BP 1 82080 1.21832E-5 41040 0 8.32404E-6
3-100585785-A-C p.Leu316Trp missense ABI3BP 1 82094 1.21812E-5 41047 0 3.18431E-5
3-100585790-T-A p.Glu314Asp missense ABI3BP 444 82072 0.00540988 41036 8 0.0107678
3-100585792-C-T p.Glu314Lys missense ABI3BP 830 82036 0.0101175 41018 5 0.0083774
3-100593679-G-GT c.931+5_931+6insA splice_region ABI3BP 29 80790 3.58955E-4 40395 0 3.11474E-4
3-100593680-C-T c.931+5G>A splice_region ABI3BP 2 80850 2.47372E-5 40425 0 4.88315E-6
3-100593682-T-TGA c.931+2_931+3insTC splice_donor ABI3BP 27 80852 3.33943E-4 40426 0 3.49087E-4
3-100593684-C-CAATTAGTTCAAGACA p.Ala311delinsValSerTerThrAsnSer stop_gained ABI3BP 29 80894 3.58494E-4 40447 0 3.39869E-4
3-100593686-T-C p.Leu310Leu splice_region+synonymous ABI3BP 1 81012 1.23439E-5 40506 0 NA
3-100593691-G-C p.Gln309Glu missense ABI3BP 8 81116 9.86242E-5 40558 0 1.83449E-5
3-100593705-T-C p.Asp304Gly missense ABI3BP 2 81310 2.45972E-5 40655 0 4.41275E-6
3-100593713-C-T p.Glu301Glu synonymous ABI3BP 1 81372 1.22892E-5 40686 0 3.18613E-5
3-100593719-C-T p.Met299Ile missense ABI3BP 21 81400 2.57985E-4 40700 0 6.25961E-4
3-100593729-G-A p.Ala296Val missense ABI3BP 2 81478 2.45465E-5 40739 0 NA
3-100593736-G-A p.Leu294Phe missense ABI3BP 3 81482 3.68179E-5 40741 0 NA
3-100593742-C-T p.Val292Ile missense ABI3BP 1 81456 1.22766E-5 40728 0 4.32107E-6
3-100593754-T-C p.Asn288Asp missense ABI3BP 1 81340 1.22941E-5