Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-116196032-G-A p.Ala775Val missense ABLIM1 1 83222 1.20161E-5 41611 0 NA
10-116196048-C-T p.Asp770Asn missense ABLIM1 19 83254 2.28217E-4 41627 0 3.19754E-4
10-116196049-G-A p.Asn769Asn synonymous ABLIM1 4 83254 4.80457E-5 41627 0 4.9434E-5
10-116196053-C-T p.Arg768His missense ABLIM1 1 83248 1.20123E-5 41624 0 NA
10-116196061-A-G p.Leu765Leu synonymous ABLIM1 1 83236 1.2014E-5 41618 0 NA
10-116196067-T-C p.Leu763Leu synonymous ABLIM1 2 83224 2.40315E-5 41612 0 2.47129E-5
10-116196070-C-A p.Arg762Ser missense ABLIM1 7 83224 8.41104E-5 41612 0 1.6475E-5
10-116196070-C-T p.Arg762Arg synonymous ABLIM1 2 83226 2.4031E-5 41613 0 NA
10-116196081-C-T p.Glu759Lys missense ABLIM1 1 83230 1.20149E-5 41615 0 NA
10-116196083-T-C p.Gln758Arg missense ABLIM1 39 83228 4.68592E-4 41614 0 4.25742E-4
10-116196091-C-T p.Met755Ile missense ABLIM1 2 83218 2.40333E-5 41609 0 NA
10-116196094-T-G p.Gly754Gly synonymous ABLIM1 1 83202 1.20189E-5 41601 0 NA
10-116196100-G-A p.Ile752Ile synonymous ABLIM1 37 83190 4.44765E-4 41595 0 8.32533E-4
10-116196105-C-T p.Glu751Lys missense ABLIM1 2 83158 2.40506E-5 41579 0 8.2375E-6
10-116196107-C-T p.Arg750Gln missense ABLIM1 26 83156 3.12665E-4 41578 0 6.25E-4
10-116196108-G-A p.Arg750Trp missense ABLIM1 1 83158 1.20253E-5 41579 0 9.61538E-5
10-116196122-G-A p.Ala745Val missense ABLIM1 1 83064 1.20389E-5 41532 0 4.00718E-6
10-116196131-C-T p.Arg742His missense+splice_region ABLIM1 2 82882 2.41307E-5 41441 0 3.82156E-5
10-116196132-G-GCTCCAGC c.2224-1_2224insGCTGGAG splice_acceptor ABLIM1 1 82880 1.20656E-5 41440 0 NA
10-116196132-G-A p.Arg742Cys missense+splice_region ABLIM1 5 82878 6.03296E-5 41439 0 1.27108E-5
10-116196140-G-A c.2224-8C>T splice_region ABLIM1 1 82602 1.21062E-5 41301 0 0.00187735
10-116197595-T-G c.2223+8A>C splice_region ABLIM1 7 82606 8.47396E-5 41303 0 3.182E-5
10-116197613-G-C p.Thr738Ser missense ABLIM1 1 82790 1.20788E-5 41395 0 NA
10-116197622-A-G p.Val735Ala missense ABLIM1 1 82856 1.20691E-5 41428 0 7.95368E-6
10-116197629-T-C p.Arg733Gly missense ABLIM1 2 82902 2.41249E-5 41451 0 3.97674E-6
10-116197663-G-A p.Leu721Leu synonymous ABLIM1 1 83068 1.20383E-5 41534 0 NA
10-116197667-A-AATGT p.Met720fs frameshift ABLIM1 1 83070 1.2038E-5 41535 0 NA
10-116197675-T-G p.Ile655Leu missense ABLIM1 1 83018 1.20456E-5 41509 0 NA
10-116197691-G-T c.2143-8C>A splice_region ABLIM1 5 82926 6.02947E-5 41463 0 1.73219E-4
10-116198929-A-G c.2142+6T>C splice_region ABLIM1 1 83216 1.20169E-5 41608 0 1.64829E-5
10-116198970-G-A p.Arg703* stop_gained ABLIM1 1 83132 1.20291E-5 41566 0 8.24076E-6
10-116198980-C-G p.Met699Ile missense ABLIM1 1 83102 1.20334E-5 41551 0 NA
10-116198996-C-A p.Gly694Val missense ABLIM1 12 82952 1.44662E-4 41476 0 2.88707E-4
10-116198996-C-T p.Trp631* stop_gained ABLIM1 1 82952 1.20552E-5 41476 0 8.24878E-6
10-116199002-G-A p.Pro692Leu missense ABLIM1 2 82888 2.41289E-5 41444 0 8.25205E-6
10-116199003-G-A p.Pro692Ser missense ABLIM1 1 82856 1.20691E-5 41428 0 3.1841E-5
10-116199008-G-A p.Thr690Ile missense+splice_region ABLIM1 1 82772 1.20814E-5 41386 0 2.47717E-5
10-116199012-G-GGTAATCTCGCACTCCCCCGCTGACATCCC c.1096-1_1096insGGGATGTCAGCGGGGGAGTGCGAGATTAC splice_acceptor ABLIM1 1 82710 1.20904E-5 41355 0 NA
10-116199017-A-G c.1095+1T>C splice_donor ABLIM1 5 82654 6.04931E-5 41327 0 0.00125
10-116199024-C-G c.1091-2G>C splice_acceptor ABLIM1 1 82546 1.21145E-5 41273 0 7.97118E-6
10-116199837-A-C c.2067+4T>G splice_region ABLIM1 1 80080 1.24875E-5 40040 0 NA
10-116199849-C-T c.2060-1G>A splice_acceptor ABLIM1 1 80034 1.24947E-5 40017 0 NA
10-116200785-C-T p.Gly684Arg missense ABLIM1 4 82850 4.828E-5 41425 0 2.4695E-5
10-116200788-C-T p.Gly683Arg missense ABLIM1 2 82820 2.41488E-5 41410 0 9.55475E-5
10-116200789-G-A p.Ser682Ser synonymous ABLIM1 2 82782 2.41598E-5 41391 0 2.43938E-5
10-116200801-A-G p.Tyr678Tyr synonymous ABLIM1 94 82860 0.00113444 41430 0 0.00226187
10-116200811-T-C p.Tyr675Cys missense ABLIM1 14 82872 1.68935E-4 41436 0 6.1026E-5
10-116200818-C-T p.Ala673Thr missense ABLIM1 1 82838 1.20718E-5 41419 0 4.78996E-6
10-116200819-G-A p.Phe672Phe synonymous ABLIM1 1 82844 1.20709E-5 41422 0 3.39882E-5
10-116201482-C-T p.Arg666Gln missense+splice_region ABLIM1 1 83222 1.20161E-5 41611 0 5.04032E-4
10-116201483-G-A p.Arg666Trp missense+splice_region ABLIM1 3 83236 3.60421E-5 41618 0 1.27413E-4
10-116201503-T-A p.Tyr659Phe missense ABLIM1 1 83238 1.20137E-5 41619 0 NA
10-116201527-G-C p.Ser651Cys missense ABLIM1 1 83218 1.20166E-5 41609 0 NA
10-116201528-A-C p.Ser651Ala missense ABLIM1 1 83216 1.20169E-5 41608 0 3.1839E-5
10-116201534-G-A p.Pro649Ser missense ABLIM1 1 83202 1.20189E-5 41601 0 8.23818E-6
10-116201539-T-G p.His647Pro missense ABLIM1 1 83168 1.20239E-5 41584 0 NA
10-116203801-A-C p.Ser640Ser synonymous ABLIM1 1131 83136 0.0136042 41568 45 0.0279058
10-116203806-C-T p.Asp639Asn missense ABLIM1 3 83186 3.60638E-5 41593 0 1.66185E-5
10-116203811-C-T p.Arg637His missense ABLIM1 39 83216 4.6866E-4 41608 0 2.12611E-4
10-116203812-G-C p.Arg637Gly missense ABLIM1 135 83230 0.00162201 41615 1 0.00419442
10-116203838-C-T p.Arg628Gln missense ABLIM1 2 83320 2.40038E-5 41660 0 2.89092E-4
10-116203839-G-A p.Arg628Trp missense ABLIM1 3 83300 3.60144E-5 41650 0 1.59567E-5
10-116203857-CTT-C p.Glu621fs frameshift ABLIM1 1 83296 1.20054E-5 41648 0 NA
10-116203864-C-T p.Leu619Leu synonymous ABLIM1 1 83274 1.20085E-5 41637 0 8.25151E-6
10-116203870-C-T p.Leu617Leu synonymous ABLIM1 3 83258 3.60326E-5 41629 0 6.63086E-5
10-116203877-C-A p.Gly615Val missense ABLIM1 2 83202 2.40379E-5 41601 0 NA
10-116203882-G-T p.Gly613Gly synonymous ABLIM1 1 83156 1.20256E-5 41578 0 4.32006E-6
10-116203895-T-TTCATTAATTGCTCTTCTTGAAGCTGCCGACGTCTCAGAAGTTCCTCATC c.1828-3_1828-2insGATGAGGAACTTCTGAGACGTCGGCAGCTTCAAGAAGAGCAATTAATGA splice_region ABLIM1 2 82502 2.42418E-5 41251 1 NA
10-116203899-C-A c.1828-6G>T splice_region ABLIM1 2 82476 2.42495E-5 41238 0 1.68441E-5
10-116203899-CACAG-AAAAA c.1828-10_1828-6delCTGTGinsTTTTT splice_region ABLIM1 4 82484 4.84943E-5 41242 0 NA
10-116203901-C-A c.1828-8G>T splice_region ABLIM1 11 82228 1.33774E-4 41114 0 4.97853E-5
10-116203901-CAG-AAA c.1828-10_1828-8delCTGinsTTT splice_region ABLIM1 5 82258 6.07844E-5 41129 0 NA
10-116205099-C-T p.Arg600Gln missense ABLIM1 2 83342 2.39975E-5 41671 0 5.03525E-4
10-116205116-CTCA-C p.Asp593del disruptive_inframe_deletion ABLIM1 1 83362 1.19959E-5 41681 0 3.18471E-5
10-116205121-C-G p.Asp593His missense ABLIM1 4 83352 4.79893E-5 41676 0 1.15312E-4
10-116205124-C-T p.Asp592Asn missense ABLIM1 1 83350 1.19976E-5 41675 0 3.1837E-5
10-116205127-C-T p.Glu591Lys missense ABLIM1 1 83352 1.19973E-5 41676 0 3.1841E-5
10-116205129-T-C p.Glu590Gly missense ABLIM1 4 83346 4.79927E-5 41673 0 3.18492E-5
10-116205146-G-C p.Arg584Arg synonymous ABLIM1 9 83334 1.07999E-4 41667 0 2.54761E-4
10-116205147-C-T p.Arg584His missense ABLIM1 1 83318 1.20022E-5 41659 0 7.95615E-6
10-116205148-G-A p.Arg584Cys missense ABLIM1 1 83316 1.20025E-5 41658 0 7.95558E-6
10-116205156-T-C p.Asp581Gly missense ABLIM1 1 83294 1.20057E-5 41647 0 3.1841E-5
10-116207631-T-C c.1735+8A>G splice_region ABLIM1 2 83302 2.4009E-5 41651 0 8.24253E-6
10-116207636-T-C c.1735+3A>G splice_region ABLIM1 1 83312 1.20031E-5 41656 0 NA
10-116207642-C-T p.Val578Ile missense ABLIM1 1161 83302 0.0139372 41651 25 0.0247197
10-116207643-G-A p.Val577Val synonymous ABLIM1 12 83314 1.44033E-4 41657 0 3.29669E-4
10-116207655-G-C p.Pro573Pro synonymous ABLIM1 1 83324 1.20013E-5 41662 0 NA
10-116207658-G-A p.Pro572Pro synonymous ABLIM1 1 83316 1.20025E-5 41658 0 1.81285E-4
10-116207660-G-T p.Pro572Thr missense ABLIM1 1 83314 1.20028E-5 41657 0 3.97864E-6
10-116207666-G-A p.Pro570Ser missense ABLIM1 1 83318 1.20022E-5 41659 0 8.23981E-6
10-116207671-T-C p.His568Arg missense ABLIM1 2 83322 2.40033E-5 41661 0 6.25E-4
10-116207676-C-T p.Thr566Thr synonymous ABLIM1 266 83308 0.00319297 41654 1 0.00605449
10-116207677-G-A p.Thr566Met missense ABLIM1 3 83316 3.60075E-5 41658 0 9.55597E-5
10-116207684-T-A p.Ile564Phe missense ABLIM1 1 83316 1.20025E-5 41658 0 3.29582E-5
10-116207687-T-C p.Lys563Glu missense ABLIM1 1141 83304 0.0136968 41652 24 0.0246017
10-116207696-C-T p.Glu560Lys missense ABLIM1 11 83334 1.31999E-4 41667 0 9.8881E-5
10-116207699-T-C p.Ser559Gly missense ABLIM1 3 83338 3.5998E-5 41669 0 NA
10-116207731-G-C p.Ser548Cys missense ABLIM1 1 83352 1.19973E-5 41676 0 NA
10-116207737-T-G p.Lys546Thr missense ABLIM1 1 83354 1.1997E-5 41677 0 7.95342E-6
10-116207742-G-A p.Ile544Ile synonymous ABLIM1 2 83350 2.39952E-5 41675 0 8.23669E-6
10-116207752-G-A p.Ser541Leu missense ABLIM1 2 83352 2.39946E-5 41676 0 NA
10-116207766-GGCTGCCAAGGCA-G p.Ala533_Ala536del disruptive_inframe_deletion ABLIM1 2 83344 2.39969E-5 41672 0 8.23723E-6
10-116207785-T-G p.Asp500Ala missense+splice_region ABLIM1 1 83270 1.20091E-5 41635 0 NA
10-116209871-A-G p.Leu170Leu synonymous ABLIM1 1 50978 1.96163E-5 25489 0 NA
10-116209874-A-G p.Leu169Leu synonymous ABLIM1 1 51006 1.96055E-5 25503 0 NA
10-116209884-T-C p.Glu165Glu synonymous ABLIM1 4 51152 7.81983E-5 25576 0 3.20143E-5
10-116209895-C-CATGCTGTTTGTAGATGGGTGGCT c.485-2_485-1insAGCCACCCATCTACAAACAGCAT splice_acceptor ABLIM1 1 50748 1.97052E-5 25374 0 NA
10-116209900-G-A c.485-6C>T splice_region ABLIM1 6 50346 1.19175E-4 25173 0 6.74733E-5
10-116211376-G-GT c.1594+6_1594+7insA splice_region ABLIM1 1 83306 1.20039E-5 41653 0 NA
10-116211399-G-T p.Pro526Pro synonymous ABLIM1 6 83362 7.19752E-5 41681 0 8.26897E-6
10-116211403-G-A p.Pro525Leu missense ABLIM1 1 83358 1.19964E-5 41679 0 8.27897E-6
10-116211429-A-ATCAGG p.Gln517fs frameshift ABLIM1 3 83352 3.59919E-5 41676 0 NA
10-116213142-A-T p.Val514Val synonymous ABLIM1 11 83220 1.3218E-4 41610 0 3.18613E-4
10-116213167-G-A p.Ala506Val missense ABLIM1 1 83266 1.20097E-5 41633 0 NA
10-116213168-C-T p.Ala506Thr missense ABLIM1 1 83256 1.20111E-5 41628 0 6.25E-4
10-116213169-G-A p.Tyr505Tyr synonymous ABLIM1 1 83268 1.20094E-5 41634 0 4.14065E-4
10-116213181-T-G p.Leu501Leu synonymous ABLIM1 2 83272 2.40177E-5 41636 0 6.37714E-5
10-116213187-G-A p.Arg499Arg synonymous ABLIM1 1 83286 1.20068E-5 41643 0 1.65442E-5
10-116213189-G-A p.Arg499Cys missense ABLIM1 1 83286 1.20068E-5 41643 0 6.25E-4
10-116213195-C-G p.Asp497His missense ABLIM1 1 83272 1.20088E-5 41636 0 NA
10-116213206-G-A p.Pro493Leu missense ABLIM1 4 83272 4.80354E-5 41636 0 4.40095E-5
10-116213208-G-T p.Leu492Leu synonymous ABLIM1 1 83264 1.201E-5 41632 0 3.32989E-5
10-116213210-G-A p.Leu492Phe missense ABLIM1 16 83262 1.92164E-4 41631 0 1.59236E-4
10-116213214-G-A p.Ser490Ser synonymous ABLIM1 1 83262 1.20103E-5 41631 0 4.01416E-6
10-116213218-T-C p.Asn489Ser missense ABLIM1 1 83226 1.20155E-5 41613 0 NA
10-116213221-C-T p.Arg488Gln missense ABLIM1 3 83210 3.60534E-5 41605 0 3.18654E-5
10-116213225-C-T p.Gly487Ser missense ABLIM1 41 83196 4.92812E-4 41598 1 1.64159E-4
10-116213226-G-A p.Ser486Ser synonymous ABLIM1 4 83176 4.80908E-5 41588 0 1.27421E-4
10-116213229-G-A p.Ser485Ser synonymous ABLIM1 1 83156 1.20256E-5 41578 0 3.18613E-5
10-116213232-C-T p.Pro484Pro synonymous ABLIM1 2 83124 2.40604E-5 41562 0 2.22987E-4
10-116213233-G-A p.Pro484Leu missense ABLIM1 7 83102 8.42338E-5 41551 0 1.31465E-4
10-116213241-G-A p.Gly481Gly splice_region+synonymous ABLIM1 2 82738 2.41727E-5 41369 0 4.50142E-6
10-116225225-G-A n.447C>T splice_region ABLIM1 1 28494 3.50951E-5 14247 0 NA
10-116225450-C-A c.1441+7G>T splice_region ABLIM1 2 82430 2.4263E-5 41215 0 NA
10-116225483-C-T p.Arg472His missense ABLIM1 13 82754 1.57092E-4 41377 0 1.59347E-4
10-116225488-C-T p.Thr470Thr synonymous ABLIM1 8 82790 9.663E-5 41395 0 6.25E-4
10-116225506-G-A p.His464His synonymous ABLIM1 1 82860 1.20685E-5 41430 0 8.23683E-6
10-116225510-C-T p.Arg463His missense ABLIM1 3 82838 3.62153E-5 41419 0 4.12154E-5
10-116225511-G-A p.Arg463Cys missense ABLIM1 3 82840 3.62144E-5 41420 0 1.99167E-5
10-116225525-G-A p.Ser458Phe missense ABLIM1 1 82780 1.20802E-5 41390 0 NA
10-116225528-T-A p.Asn457Ile missense ABLIM1 1 82612 1.21048E-5 41306 0 NA
10-116225533-G-A p.Ser455Ser synonymous ABLIM1 1 82674 1.20957E-5 41337 0 NA
10-116225536-G-A p.Gly454Gly synonymous ABLIM1 2 82644 2.42002E-5 41322 0 8.23696E-6
10-116225545-C-T p.Thr451Thr synonymous ABLIM1 1 82580 1.21095E-5 41290 0 1.6475E-5
10-116225552-C-T p.Arg449Gln missense ABLIM1 3 82508 3.63601E-5 41254 0 3.18776E-5
10-116225553-G-A p.Arg449Trp missense ABLIM1 3 82444 3.63883E-5 41222 0 6.37389E-5
10-116225558-A-G p.Ile447Thr missense ABLIM1 2 82448 2.42577E-5 41224 0 3.18695E-5
10-116225564-C-T p.Arg445Gln missense ABLIM1 3 82408 3.64042E-5 41204 0 6.37186E-5
10-116225565-G-C p.Arg445Gly missense ABLIM1 2 82348 2.42872E-5 41174 0 3.98562E-6
10-116225570-C-T p.Arg443Gln missense ABLIM1 10 82348 1.21436E-4 41174 0 1.59347E-4
10-116227937-T-C c.1311+3A>G splice_region ABLIM1 22 83226 2.6434E-4 41613 0 6.25E-4
10-116227939-C-T c.1311+1G>A splice_donor ABLIM1 1 83246 1.20126E-5 41623 0 NA
10-116227941-T-C p.Glu437Gly missense+splice_region ABLIM1 1 83250 1.2012E-5 41625 0 NA
10-116227949-T-C p.Pro434Pro synonymous ABLIM1 1 83262 1.20103E-5 41631 0 9.55231E-5
10-116227952-A-C p.Thr433Thr synonymous ABLIM1 1 83264 1.201E-5 41632 0 NA
10-116227962-A-C p.Leu430Trp missense ABLIM1 1 83250 1.2012E-5 41625 0 NA
10-116227963-A-G p.Leu430Leu synonymous ABLIM1 1 83254 1.20114E-5 41627 0 NA
10-116227970-C-T p.Pro427Pro synonymous ABLIM1 27 83248 3.24332E-4 41624 0 0.00212088
10-116227971-G-A p.Pro427Leu missense ABLIM1 1 83244 1.20129E-5 41622 0 1.19355E-5
10-116227974-G-T p.Ser426Tyr missense+splice_region ABLIM1 2 83234 2.40286E-5 41617 0 0.00100705
10-116232728-T-C c.1275+8A>G splice_region ABLIM1 1 82624 1.2103E-5 41312 0 8.92801E-6
10-116232729-G-A c.1275+7C>T splice_region ABLIM1 2 82828 2.41464E-5 41414 0 NA
10-116232732-T-G c.1275+4A>C splice_region ABLIM1 1 82836 1.2072E-5 41418 0 NA
10-116232744-G-C p.Leu423Val missense ABLIM1 1 83092 1.20349E-5 41546 0 1.23998E-5
10-116232745-G-A p.Ser422Ser synonymous ABLIM1 2 83106 2.40657E-5 41553 0 4.17341E-5
10-116232763-G-C p.Asp416Glu missense ABLIM1 1 83180 1.20221E-5 41590 0 NA
10-116232767-T-C p.Asp415Gly missense ABLIM1 4 83188 4.80839E-5 41594 0 4.0457E-6
10-116232775-C-T p.Ser412Ser synonymous ABLIM1 2 83212 2.4035E-5 41606 0 6.85279E-5
10-116232776-G-A p.Ser412Leu missense ABLIM1 3 83212 3.60525E-5 41606 0 9.55292E-5
10-116232780-T-C p.Thr411Ala missense ABLIM1 1 83258 1.20109E-5 41629 0 6.3678E-5
10-116232783-A-C p.Tyr410Asp missense ABLIM1 1 83266 1.20097E-5 41633 0 3.99875E-6
10-116232784-G-A p.Phe409Phe synonymous ABLIM1 1 83272 1.20088E-5 41636 0 NA
10-116232791-T-C p.Glu407Gly missense ABLIM1 1 83292 1.2006E-5 41646 0 8.24348E-6
10-116232797-G-T p.Thr405Asn missense ABLIM1 1 83308 1.20036E-5 41654 0 NA
10-116232812-C-T p.Arg400His missense ABLIM1 1 83294 1.20057E-5 41647 0 3.18431E-5
10-116232819-T-C p.Ile398Val missense ABLIM1 2 83296 2.40108E-5 41648 0 3.98486E-6
10-116232829-T-C p.Ala394Ala synonymous ABLIM1 1 83298 1.20051E-5 41649 0 NA
10-116232841-C-T p.Pro390Pro synonymous ABLIM1 3 83288 3.60196E-5 41644 0 1.19651E-5
10-116232842-G-A p.Pro390Leu missense ABLIM1 1 83284 1.20071E-5 41642 0 3.9901E-6
10-116232871-G-T p.Ile380Ile synonymous ABLIM1 28 83224 3.36441E-4 41612 0 1.91071E-4
10-116232876-C-T p.Glu379Lys missense ABLIM1 1 83210 1.20178E-5 41605 0 0.00375
10-116232877-A-G p.Asn378Asn synonymous ABLIM1 1 83214 1.20172E-5 41607 0 8.29793E-6
10-116232878-T-A p.Asn378Ile missense ABLIM1 1 83212 1.20175E-5 41606 0 1.61497E-5
10-116232878-T-C p.Asn378Ser missense ABLIM1 1 83212 1.20175E-5 41606 0 NA
10-116232889-T-G p.Ala374Ala splice_region+synonymous ABLIM1 3 83184 3.60646E-5 41592 0 1.21607E-5
10-116232889-T-TGCATAGATAGTATGACCTGGTGAGCCAGGAATACTGGA p.Lys375fs frameshift ABLIM1 1 83184 1.20215E-5 41592 0 NA
10-116232899-A-G c.1120-8T>C splice_region ABLIM1 2 83144 2.40547E-5 41572 0 6.91794E-5
10-116233645-G-C p.Thr371Ser missense ABLIM1 3 83242 3.60395E-5 41621 0 NA
10-116233675-C-G p.Gly361Ala missense ABLIM1 2 83272 2.40177E-5 41636 0 1.27413E-4
10-116233677-T-C p.Pro360Pro synonymous ABLIM1 1 83270 1.20091E-5 41635 0 8.24837E-6
10-116233678-G-C p.Pro360Arg missense ABLIM1 11 83270 1.321E-4 41635 0 6.5987E-5
10-116233679-G-C p.Pro360Ala missense ABLIM1 1 83264 1.201E-5 41632 0 NA
10-116233683-A-G p.Ser358Ser synonymous ABLIM1 1 83266 1.20097E-5 41633 0 NA
10-116233687-T-C p.Tyr357Cys missense ABLIM1 1 83262 1.20103E-5 41631 0 NA
10-116233698-C-T p.Ser353Ser synonymous ABLIM1 1 83254 1.20114E-5 41627 0 1.99067E-5
10-116233699-G-A p.Ser353Leu missense ABLIM1 6 83262 7.20617E-5 41631 0 1.99053E-5
10-116233711-G-T p.Thr349Asn missense ABLIM1 1 83252 1.20117E-5 41626 0 3.98362E-6
10-116233714-G-GGCCGCA p.Leu346_Arg347dup conservative_inframe_insertion ABLIM1 2 83256 2.40223E-5 41628 0 NA
10-116233716-C-CCGCAGCTTTTCCTCGGTCTTCGTAGATTGCT c.1042-2_1042-1insAGCAATCTACGAAGACCGAGGAAAAGCTGCG splice_acceptor ABLIM1 1 83238 1.20137E-5 41619 0 NA
10-116245048-A-G c.945+8T>C splice_region ABLIM1 1 82988 1.20499E-5 41494 0 9.14277E-6
10-116245054-A-G c.945+2T>C splice_donor ABLIM1 1 83036 1.2043E-5 41518 0 NA
10-116245065-C-T p.Pro312Pro synonymous ABLIM1 1 83064 1.20389E-5 41532 0 1.59195E-4
10-116245066-G-A p.Pro312Leu missense ABLIM1 21 83080 2.52768E-4 41540 0 6.25E-4
10-116245073-G-A p.Arg310Trp missense ABLIM1 3 83108 3.60976E-5 41554 0 7.08153E-5
10-116245075-C-T p.Gly309Glu missense ABLIM1 2 83128 2.40593E-5 41564 0 1.20019E-5
10-116245081-C-T p.Arg307His missense ABLIM1 13 83140 1.56363E-4 41570 0 5.03525E-4
10-116245085-G-C p.Arg306Gly missense ABLIM1 1 83172 1.20233E-5 41586 0 3.1841E-5
10-116245085-G-A p.Arg306* stop_gained ABLIM1 1 83170 1.20236E-5 41585 0 1.59205E-4
10-116245092-A-C p.Ser303Arg missense ABLIM1 3 83178 3.60672E-5 41589 0 1.76466E-5
10-116245099-G-A p.Ser301Phe missense ABLIM1 2 83198 2.4039E-5 41599 0 NA
10-116245099-G-T p.Ser301Tyr missense ABLIM1 1 83198 1.20195E-5 41599 0 1.7804E-5
10-116245112-C-T p.Asp297Asn missense ABLIM1 51 83184 6.13099E-4 41592 0 5.89131E-4
10-116245113-G-A p.Ser296Ser synonymous ABLIM1 11 83196 1.32218E-4 41598 0 9.07886E-5
10-116245121-A-C p.Ser294Ala missense ABLIM1 2 83184 2.40431E-5 41592 0 NA
10-116245123-C-G p.Arg293Pro missense ABLIM1 1 83158 1.20253E-5 41579 0 NA
10-116245123-C-T p.Arg293His missense ABLIM1 3 83158 3.60759E-5 41579 0 1.01703E-4
10-116245123-C-A p.Arg293Leu missense ABLIM1 1 83158 1.20253E-5 41579 0 NA
10-116245126-C-T p.Arg292Gln missense ABLIM1 7 83130 8.42055E-5 41565 0 6.37024E-5
10-116245126-C-G p.Arg292Pro missense ABLIM1 1 83130 1.20294E-5 41565 0 6.37024E-5
10-116245127-G-A p.Arg292Trp missense ABLIM1 18 83144 2.16492E-4 41572 0 0.00118303
10-116245134-T-C p.Pro289Pro synonymous ABLIM1 1 83108 1.20325E-5 41554 0 3.1835E-5
10-116247711-C-A c.1041+6G>T splice_region ABLIM1 1 83304 1.20042E-5 41652 0 3.9775E-6
10-116247719-G-A p.Arg347Trp missense+splice_region ABLIM1 2 83310 2.40067E-5 41655 0 3.18492E-5
10-116247731-C-T p.Glu343Lys missense ABLIM1 4 83308 4.80146E-5 41654 0 3.97776E-6
10-116247732-G-A p.Thr342Thr synonymous ABLIM1 2 83304 2.40085E-5 41652 0 2.38679E-5
10-116247733-G-C p.Thr342Ser missense ABLIM1 2 83310 2.40067E-5 41655 0 NA
10-116247739-G-A p.Thr340Met missense ABLIM1 1 83308 1.20036E-5 41654 0 3.97769E-6
10-116247744-T-C p.Gln338Gln synonymous ABLIM1 5 83308 6.00182E-5 41654 0 3.97788E-6
10-116247756-G-A p.Pro334Pro synonymous ABLIM1 3 83308 3.60109E-5 41654 0 4.11828E-5
10-116247767-C-T p.Val331Ile missense ABLIM1 4 83296 4.80215E-5 41648 0 3.29462E-5
10-116247768-G-A p.Thr330Thr synonymous ABLIM1 1 83298 1.20051E-5 41649 0 1.98904E-5
10-116247774-G-A p.Gly328Gly splice_region+synonymous ABLIM1 1 83282 1.20074E-5 41641 0 3.18532E-5
10-116247783-G-T c.983-8C>A splice_region ABLIM1 2 83252 2.40234E-5 41626 0 NA
10-116251566-C-T p.Glu322Glu synonymous ABLIM1 52 82974 6.26702E-4 41487 1 0.00271891
10-116251577-T-C p.Thr319Ala missense ABLIM1 3 82998 3.61454E-5 41499 0 8.23818E-6
10-116251584-C-G p.Gln316His missense ABLIM1 3 83022 3.6135E-5 41511 0 1.64753E-5
10-116251588-T-C p.Asn315Ser missense ABLIM1 1 82990 1.20496E-5 41495 0 9.55231E-5
10-116251603-C-T p.Arg310Gln missense ABLIM1 16 82944 1.92901E-4 41472 1 4.9425E-4
10-116251604-G-A p.Arg310* stop_gained ABLIM1 1 82936 1.20575E-5 41468 0 NA
10-116251611-G-T p.Ser307Arg missense ABLIM1 1 82912 1.2061E-5 41456 0 NA
10-116251614-G-A p.Pro306Pro synonymous ABLIM1 1 82912 1.2061E-5 41456 0 NA
10-116286414-TT-GG c.-55+4_-55+5delAAinsCC splice_region ABLIM1 10 27190 3.67782E-4 13595 0 NA
10-116286416-T-C c.-55+3A>G splice_region ABLIM1 1 27198 3.67674E-5 13599 0 6.3674E-5
10-116286443-T-C c.-79A>G 5_prime_UTR_premature_start_codon_gain ABLIM1 2 27212 7.3497E-5 13606 0 NA
10-116286484-G-A c.-120C>T 5_prime_UTR_premature_start_codon_gain ABLIM1 7 27216 2.57202E-4 13608 0 5.72956E-4
10-116286490-A-C c.-126T>G 5_prime_UTR_premature_start_codon_gain ABLIM1 2 27220 7.34754E-5 13610 0 3.1835E-5
10-116286542-G-T c.-178C>A 5_prime_UTR_premature_start_codon_gain ABLIM1 1 27216 3.67431E-5 13608 0 1.27356E-4
10-116286586-C-A c.-222G>T 5_prime_UTR_premature_start_codon_gain ABLIM1 1 27212 3.67485E-5 13606 0 3.18756E-5
10-116286653-G-A c.-289C>T 5_prime_UTR_premature_start_codon_gain ABLIM1 2 27176 7.35943E-5 13588 0 NA
10-116286662-C-G c.-298G>C 5_prime_UTR_premature_start_codon_gain ABLIM1 2 27196 7.35402E-5 13598 0 NA
10-116286672-C-T c.-308G>A 5_prime_UTR_premature_start_codon_gain ABLIM1 1 27196 3.67701E-5 13598 0 NA
10-116304757-C-G c.894+7G>C splice_region ABLIM1 2 83304 2.40085E-5 41652 0 3.97703E-6
10-116304764-C-T p.Glu298Glu splice_region+synonymous ABLIM1 1 83318 1.20022E-5 41659 0 8.23669E-6
10-116304797-C-G p.Ala287Ala synonymous ABLIM1 1 83316 1.20025E-5 41658 0 3.97712E-6
10-116304845-C-T p.Pro271Pro synonymous ABLIM1 7 83292 8.40417E-5 41646 0 4.77335E-5
10-116304861-C-A c.801-4G>T splice_region ABLIM1 3 83260 3.60317E-5 41630 0 6.25E-4
10-116307414-G-A p.Ile265Ile synonymous ABLIM1 1 82136 1.21749E-5 41068 0 6.25E-4
10-116307417-G-A p.Tyr264Tyr synonymous ABLIM1 1 82144 1.21737E-5 41072 0 3.98651E-6
10-116307426-G-A p.Thr261Thr synonymous ABLIM1 3 82244 3.64768E-5 41122 0 1.27437E-4
10-116307426-G-C p.Thr261Thr synonymous ABLIM1 1 82244 1.21589E-5 41122 0 NA
10-116307432-G-A p.Val259Val synonymous ABLIM1 4 82356 4.85696E-5 41178 0 6.36943E-5
10-116307440-C-T p.Gly257Arg missense ABLIM1 1 82426 1.21321E-5 41213 0 NA
10-116307447-C-G p.Lys254Asn missense ABLIM1 1 82566 1.21115E-5 41283 0 NA
10-116307460-C-G p.Cys250Ser missense ABLIM1 1 82734 1.20869E-5 41367 0 NA
10-116307475-T-C p.Gln245Arg missense ABLIM1 1 82902 1.20624E-5 41451 0 NA
10-116307486-C-A p.Ala241Ala synonymous ABLIM1 1 82986 1.20502E-5 41493 0 0.00125
10-116307491-G-A p.Leu240Leu synonymous ABLIM1 1 83044 1.20418E-5 41522 0 NA
10-116307495-C-T p.Ala238Ala synonymous ABLIM1 10 83082 1.20363E-4 41541 0 6.25E-4
10-116307501-C-A p.Gly236Gly synonymous ABLIM1 1 83118 1.20311E-5 41559 0 4.00708E-6
10-116307504-A-G p.Asn235Asn synonymous ABLIM1 62311 82358 0.756587 41179 23790 0.783988
10-116307507-C-T p.Lys234Lys synonymous ABLIM1 1 83132 1.20291E-5 41566 0 2.86642E-4
10-116307514-T-C p.Asp232Gly missense ABLIM1 3 83136 3.60855E-5 41568 0 3.18512E-5
10-116307526-C-A p.Gly228Val missense ABLIM1 1 83120 1.20308E-5 41560 0 NA
10-116307527-C-T p.Gly228Ser missense ABLIM1 1 83112 1.2032E-5 41556 0 8.1277E-6
10-116307528-G-A p.Ala227Ala synonymous ABLIM1 8 83120 9.62464E-5 41560 0 7.56417E-5
10-116307530-C-T p.Ala227Thr missense ABLIM1 1 83122 1.20305E-5 41561 0 NA
10-116331054-A-ACTG c.673+1_673+2insCAG splice_donor ABLIM1 175 83346 0.00209968 41673 1 0.00276166
10-116331067-G-T p.Thr221Asn missense ABLIM1 1 83368 1.1995E-5 41684 0 3.18431E-5
10-116331079-G-A p.Pro217Leu missense ABLIM1 72 83382 8.63496E-4 41691 0 0.00229343
10-116331087-C-T p.Ser214Ser synonymous ABLIM1 4 83380 4.79731E-5 41690 0 9.88517E-5
10-116331088-G-A p.Ser214Leu missense ABLIM1 3 83378 3.59807E-5 41689 0 1.19293E-5
10-116331092-T-A p.Met213Leu missense ABLIM1 1 83382 1.1993E-5 41691 0 NA
10-116331093-C-T p.Pro212Pro synonymous ABLIM1 2 83382 2.3986E-5 41691 0 3.18114E-5
10-116331112-C-T p.Cys206Tyr missense ABLIM1 1 83384 1.19927E-5 41692 0 3.9764E-6
10-116331123-T-C p.Arg202Arg synonymous ABLIM1 1 83374 1.19941E-5 41687 0 2.63613E-4
10-116331126-C-A p.Gly201Gly synonymous ABLIM1 6 83374 7.19649E-5 41687 0 2.7835E-5
10-116331130-T-C p.Asn200Ser missense ABLIM1 1 83380 1.19933E-5 41690 0 3.97643E-6
10-116331136-G-A p.Thr198Ile missense ABLIM1 1 83384 1.19927E-5 41692 0 7.55527E-5
10-116331139-A-G p.Val197Ala missense ABLIM1 1 83388 1.19921E-5 41694 0 NA
10-116331142-C-T p.Arg196Gln missense ABLIM1 3 83378 3.59807E-5 41689 0 4.11997E-5
10-116331149-C-T p.Gly194Arg missense ABLIM1 2 83358 2.39929E-5 41679 0 6.36821E-5
10-116331150-G-A p.Pro193Pro synonymous ABLIM1 12 83358 1.43957E-4 41679 0 6.25E-4
10-116331159-C-T p.Pro190Pro synonymous ABLIM1 3 83326 3.60032E-5 41663 0 3.97703E-6
10-116331163-C-T p.Arg189His missense+splice_region ABLIM1 7 83310 8.40235E-5 41655 0 1.27397E-4
10-116331164-G-A p.Arg189Cys missense+splice_region ABLIM1 2 83310 2.40067E-5 41655 0 3.18451E-5
10-116331171-G-A c.564-6C>T splice_region ABLIM1 1 83288 1.20065E-5 41644 0 3.97766E-6
10-116335189-A-T p.Ala183Ala synonymous ABLIM1 1 82978 1.20514E-5 41489 0 NA
10-116335199-T-C p.Asn180Ser missense ABLIM1 3 83056 3.61202E-5 41528 0 3.18451E-5
10-116335204-A-G p.His178His synonymous ABLIM1 1 83068 1.20383E-5 41534 0 3.98406E-6
10-116335212-T-A p.Thr176Ser missense ABLIM1 2 83042 2.40842E-5 41521 0 NA
10-116335223-G-A p.Ala172Val missense ABLIM1 1 83082 1.20363E-5 41541 0 NA
10-116335236-C-T p.Glu168Lys missense ABLIM1 2 83062 2.40784E-5 41531 0 3.18492E-5
10-116335237-G-A p.Gly167Gly synonymous ABLIM1 22 83050 2.64901E-4 41525 0 2.8677E-4
10-116335240-C-T p.Glu166Glu synonymous ABLIM1 1 83142 1.20276E-5 41571 0 3.97934E-6
10-116335244-ACG-GCA p.PheVal164PheAla missense ABLIM1 1 83126 1.20299E-5 41563 0 NA
10-116335246-G-A p.Phe164Phe synonymous ABLIM1 19581 82680 0.236829 41340 2674 0.290534
10-116335260-C-T p.Gly160Ser missense ABLIM1 6 83104 7.21987E-5 41552 0 3.82214E-4
10-116335268-C-T p.Arg157His missense ABLIM1 1 83086 1.20357E-5 41543 0 2.47296E-5
10-116335272-T-C p.Thr156Ala missense ABLIM1 1 83078 1.20369E-5 41539 0 NA
10-116335275-C-T p.Gly155Arg missense ABLIM1 5 83082 6.01815E-5 41541 0 3.18451E-5
10-116335276-G-A p.Tyr154Tyr synonymous ABLIM1 15 83084 1.8054E-4 41542 0 6.25E-4
10-116335283-C-T p.Arg152Gln missense ABLIM1 1 83062 1.20392E-5 41531 0 1.64943E-5
10-116335284-G-A p.Arg152Trp missense ABLIM1 4 83042 4.81684E-5 41521 0 6.25E-4
10-116335290-A-G p.Tyr150His missense ABLIM1 2 83020 2.40906E-5 41510 0 7.96001E-6
10-116335297-G-T p.Thr147Thr synonymous ABLIM1 2 82966 2.41063E-5 41483 0 NA
10-116335297-G-A p.Thr147Thr synonymous ABLIM1 1 82966 1.20531E-5 41483 0 NA
10-116335309-C-T p.Glu143Glu synonymous ABLIM1 5 82836 6.03602E-5 41418 0 5.03525E-4
10-116335312-T-C p.Gly142Gly synonymous ABLIM1 1 82804 1.20767E-5 41402 0 1.27397E-4
10-116335314-C-T p.Gly142Arg missense ABLIM1 2 82736 2.41733E-5 41368 0 8.28007E-6
10-116335315-G-A p.Asn141Asn synonymous ABLIM1 7 82722 8.46208E-5 41361 0 6.25E-4
10-116335318-C-A p.Lys140Asn missense ABLIM1 1 82670 1.20963E-5 41335 0 NA
10-116335337-T-C p.Gln134Arg missense ABLIM1 1 82120 1.21773E-5 41060 0 3.99632E-6
10-116335339-T-C p.Ala133Ala synonymous ABLIM1 160 81980 0.0019517 40990 2 0.0025
10-116335340-G-T p.Ala133Glu missense ABLIM1 1 81914 1.22079E-5 40957 0 4.00022E-6
10-116335341-C-T p.Ala133Thr missense ABLIM1 1 81882 1.22127E-5 40941 0 NA
10-116335344-G-C p.Leu132Val missense ABLIM1 3 81798 3.66757E-5 40899 0 3.1839E-5
10-116335366-G-A c.380-8C>T splice_region ABLIM1 4 80240 4.98504E-5 40120 0 3.1835E-5
10-116361581-C-A c.379+5G>T splice_region ABLIM1 1 83136 1.20285E-5 41568 0 NA
10-116361587-T-C p.Lys126Lys splice_region+synonymous ABLIM1 1 83152 1.20262E-5 41576 0 NA
10-116361605-G-A p.Ile120Ile synonymous ABLIM1 3 83244 3.60386E-5 41622 1 3.97804E-6
10-116361619-T-C p.Lys116Glu missense ABLIM1 1 83272 1.20088E-5 41636 0 NA
10-116361624-T-C p.Gln114Arg missense ABLIM1 2 83286 2.40136E-5 41643 0 NA
10-116361626-G-T p.Val113Val synonymous ABLIM1 1 83290 1.20062E-5 41645 0 1.19342E-5
10-116361630-C-T p.Arg112Gln missense ABLIM1 1 83284 1.20071E-5 41642 0 1.23556E-4
10-116361636-A-G p.Val110Ala missense ABLIM1 1 83304 1.20042E-5 41652 0 NA
10-116361652-G-C p.Pro105Ala missense ABLIM1 6 83304 7.20254E-5 41652 0 6.25E-4
10-116361655-C-T p.Glu104Lys missense ABLIM1 1 83306 1.20039E-5 41653 0 7.95507E-6
10-116361657-C-T p.Gly103Glu missense ABLIM1 2 83302 2.4009E-5 41651 0 NA
10-116361679-C-G p.Val96Leu missense ABLIM1 3 83300 3.60144E-5 41650 0 3.97814E-6
10-116361682-G-C p.Pro95Ala missense ABLIM1 1 83302 1.20045E-5 41651 0 1.59205E-4
10-116361700-G-A p.His89Tyr missense ABLIM1 4 83252 4.80469E-5 41626 0 3.18492E-5
10-116361715-G-T p.His84Asn missense ABLIM1 1 83198 1.20195E-5 41599 0 NA
10-116361717-G-A p.Ala83Val missense ABLIM1 2 83170 2.40471E-5 41585 0 1.19427E-5
10-116361720-A-G p.Val82Ala missense+splice_region ABLIM1 1 83166 1.20241E-5 41583 0 NA
10-116361722-T-G c.245-2A>C splice_acceptor ABLIM1 1 83158 1.20253E-5 41579 0 NA
10-116417709-T-C c.244+7A>G splice_region ABLIM1 2 83214 2.40344E-5 41607 0 NA
10-116417715-C-G c.244+1G>C splice_donor ABLIM1 1 83212 1.20175E-5 41606 0 NA
10-116417720-AG-A p.Pro80fs frameshift ABLIM1 4 83220 4.80654E-5 41610 0 2.5005E-5
10-116417725-C-T p.Asp79Asn missense ABLIM1 1 83240 1.20135E-5 41620 0 NA
10-116417728-C-T p.Val78Ile missense ABLIM1 67 83226 8.05037E-4 41613 0 0.00108246
10-116417728-C-G p.Val78Leu missense ABLIM1 3 83226 3.60464E-5 41613 0 8.00628E-6
10-116417729-G-A p.Ser77Ser synonymous ABLIM1 1 83220 1.20163E-5 41610 0 2.48624E-5
10-116417733-TTACA-T p.Cys75fs frameshift ABLIM1 5 83254 6.00572E-5 41627 0 6.36943E-5
10-116417737-A-G p.Cys75Arg missense ABLIM1 23 83266 2.76223E-4 41633 0 3.0574E-4
10-116417742-C-T p.Arg73His missense ABLIM1 26 83260 3.12275E-4 41630 0 6.25E-4
10-116417743-G-A p.Arg73Cys missense ABLIM1 1 83252 1.20117E-5 41626 0 1.15605E-4
10-116417744-C-T p.Gly72Gly synonymous ABLIM1 3 83254 3.60343E-5 41627 0 1.81584E-4
10-116417748-C-A p.Arg71Leu missense ABLIM1 7 83258 8.4076E-5 41629 0 6.3674E-5
10-116417749-G-A p.Arg71Cys missense ABLIM1 1 83262 1.20103E-5 41631 0 NA
10-116417766-G-A p.Pro65Leu missense ABLIM1 2 83244 2.40258E-5 41622 0 1.64829E-5
10-116417769-C-T p.Cys64Tyr missense ABLIM1 6 83256 7.20669E-5 41628 0 NA
10-116417774-A-G p.Tyr62Tyr synonymous ABLIM1 1 83264 1.201E-5 41632 0 1.64821E-5
10-116417775-T-C p.Tyr62Cys missense ABLIM1 4 83256 4.80446E-5 41628 0 0.00100705
10-116417779-G-A p.Leu61Leu synonymous ABLIM1 2 83242 2.40263E-5 41621 0 1.59205E-5
10-116417787-G-A p.Thr58Ile missense ABLIM1 1 83260 1.20106E-5 41630 0 NA
10-116417791-T-C p.Ile57Val missense ABLIM1 1 83260 1.20106E-5 41630 0 NA
10-116417796-G-C p.Ala55Gly missense ABLIM1 14 83254 1.6816E-4 41627 0 1.59215E-4
10-116417798-AC-A p.Arg54fs frameshift ABLIM1 1 83246 1.20126E-5 41623 0 NA
10-116417799-C-T p.Arg54His missense ABLIM1 5 83248 6.00615E-5 41624 0 7.41656E-5
10-116417799-C-A p.Arg54Leu missense ABLIM1 2 83248 2.40246E-5 41624 0 3.97899E-6
10-116417800-G-A p.Arg54Cys missense ABLIM1 268 83250 0.00321922 41625 5 0.00649516
10-116417800-G-C p.Arg54Gly missense ABLIM1 1 83250 1.2012E-5 41625 0 NA
10-116417809-C-T p.Ala51Thr missense ABLIM1 2 83260 2.40211E-5 41630 0 1.91071E-4
10-116417810-G-A p.Thr50Thr synonymous ABLIM1 16 83262 1.92164E-4 41631 0 3.82141E-4
10-116417811-G-A p.Thr50Ile missense ABLIM1 2 83260 2.40211E-5 41630 0 NA
10-116417830-C-A p.Val44Phe missense ABLIM1 4 83256 4.80446E-5 41628 0 3.9782E-6
10-116417835-C-G p.Arg42Pro missense ABLIM1 1 83254 1.20114E-5 41627 0 NA
10-116417835-C-T p.Arg42Gln missense ABLIM1 2 83254 2.40229E-5 41627 0 2.78492E-5
10-116417836-G-C p.Arg42Gly missense ABLIM1 1 83258 1.20109E-5 41629 0 NA
10-116417836-G-A p.Arg42Trp missense ABLIM1 10 83258 1.20109E-4 41629 0 9.06424E-4
10-116417853-C-T p.Arg36Lys missense ABLIM1 1 83258 1.20109E-5 41629 0 NA
10-116417854-T-A p.Arg36* stop_gained ABLIM1 2 83252 2.40234E-5 41626 0 NA
10-116417861-G-T p.Asn33Lys missense ABLIM1 1 83242 1.20132E-5 41621 0 NA
10-116417864-C-T p.Ser32Ser synonymous ABLIM1 3 83198 3.60586E-5 41599 1 6.37024E-5
10-116417865-G-A p.Ser32Leu missense ABLIM1 4 83212 4.807E-5 41606 0 3.18512E-5
10-116417878-T-C p.Ser28Gly missense ABLIM1 1 83178 1.20224E-5 41589 0 NA
10-116417885-C-T p.Glu25Glu synonymous ABLIM1 1 83162 1.20247E-5 41581 0 1.19383E-5
10-116417899-CTT-C p.Lys20fs frameshift ABLIM1 1 83066 1.20386E-5 41533 0 NA
10-116417914-A-G p.Ser16Pro missense ABLIM1 3 82904 3.61864E-5 41452 0 1.65216E-5
10-116417943-C-A p.Gly6Val missense ABLIM1 1 82656 1.20983E-5 41328 0 1.68129E-5
10-116417955-G-A p.Pro2Leu missense ABLIM1 1 82536 1.21159E-5 41268 0 4.03985E-6
10-116418012-G-A c.-53C>T 5_prime_UTR_premature_start_codon_gain ABLIM1 6 81052 7.40266E-5 40526 0 NA
10-116444065-G-T p.Thr16Thr synonymous ABLIM1 1 83378 1.19936E-5 41689 0 NA
10-116444066-G-A p.Thr16Ile missense ABLIM1 1 83378 1.19936E-5 41689 0 NA
10-116444067-T-C p.Thr16Ala missense ABLIM1 1 83376 1.19939E-5 41688 0 1.40063E-4
10-116444074-AG-A p.Pro13fs frameshift ABLIM1 1 83382 1.1993E-5 41691 0 1.64772E-5
10-116444081-G-A p.Thr11Met missense ABLIM1 26 83378 3.11833E-4 41689 0 2.86588E-4
10-116444110-C-T p.Met1? start_lost ABLIM1 1 83364 1.19956E-5 41682 0 8.24035E-6
10-116444111-A-G p.Met1? start_lost ABLIM1 2 83364 2.39912E-5 41682 0 8.2409E-6
10-116444216-G-A c.-104C>T 5_prime_UTR_premature_start_codon_gain ABLIM1 2 79688 2.50979E-5 39844 0 NA
10-116444258-C-G c.-146G>C 5_prime_UTR_premature_start_codon_gain ABLIM1 1 73170 1.36668E-5 36585 0 NA
10-116444260-G-A c.-148C>T 5_prime_UTR_premature_start_codon_gain ABLIM1 2 72544 2.75695E-5 36272 0 3.18573E-5
10-116444426-T-A c.-314A>T 5_prime_UTR_premature_start_codon_gain ABLIM1 2 28814 6.94107E-5 14407 0 NA
10-116444437-G-A c.-325C>T 5_prime_UTR_premature_start_codon_gain ABLIM1 3 28498 1.05271E-4 14249 0 3.18634E-5
10-116444463-C-T c.-351G>A 5_prime_UTR_premature_start_codon_gain ABLIM1 4 27866 1.43544E-4 13933 0 3.1841E-5
10-116444478-T-C c.-366A>G 5_prime_UTR_premature_start_codon_gain ABLIM1 2 27698 7.22074E-5 13849 0 NA
10-116444496-T-A c.-384A>T 5_prime_UTR_premature_start_codon_gain ABLIM1 3 27538 1.0894E-4 13769 0 NA