Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-202153380-A-G p.Ter446Glnext*? stop_lost ALS2CR12 1 83192 1.20204E-5 41596 0 3.19313E-5
2-202153382-G-C p.Ser445* stop_gained ALS2CR12 17 83200 2.04327E-4 41600 0 2.38927E-4
2-202153383-A-G p.Ser445Pro missense ALS2CR12 1 83202 1.20189E-5 41601 0 1.19741E-5
2-202153384-T-C p.Glu444Glu synonymous ALS2CR12 2 83210 2.40356E-5 41605 0 1.19748E-5
2-202153392-C-T p.Gly442Arg missense ALS2CR12 9 83202 1.0817E-4 41601 0 6.36821E-5
2-202153399-GC-G p.Ser439fs frameshift ALS2CR12 9 83200 1.08173E-4 41600 0 6.36983E-5
2-202153404-C-A p.Gly438Cys missense ALS2CR12 1 83200 1.20192E-5 41600 0 NA
2-202153410-G-A p.Gln436* stop_gained ALS2CR12 9 83180 1.08199E-4 41590 0 3.99489E-6
2-202153410-G-T p.Gln436Lys missense ALS2CR12 1 83180 1.20221E-5 41590 0 3.18451E-5
2-202153414-A-G p.Thr434Thr synonymous ALS2CR12 1 83170 1.20236E-5 41585 0 NA
2-202153418-T-A p.Asp433Val missense ALS2CR12 1 83148 1.20267E-5 41574 0 3.99677E-6
2-202153423-A-G p.Asp431Asp synonymous ALS2CR12 1 83124 1.20302E-5 41562 0 NA
2-202153427-T-G p.Asp430Ala missense ALS2CR12 1 83070 1.2038E-5 41535 0 4.00048E-6
2-202153430-T-C p.Lys429Arg missense ALS2CR12 2 83074 2.40749E-5 41537 0 1.64753E-5
2-202153437-C-T p.Val427Ile missense ALS2CR12 2 83036 2.40859E-5 41518 0 5.05561E-4
2-202153437-C-G p.Val427Leu missense ALS2CR12 2 83036 2.40859E-5 41518 0 3.18492E-5
2-202153446-A-T p.Ser424Thr missense ALS2CR12 1 82938 1.20572E-5 41469 0 NA
2-202153452-A-G p.Leu422Leu synonymous ALS2CR12 1 82830 1.20729E-5 41415 0 1.60304E-5
2-202153456-C-T p.Gly420Gly synonymous ALS2CR12 2 82782 2.41598E-5 41391 0 8.23886E-6
2-202153476-T-G p.Ile414Leu missense ALS2CR12 1 82326 1.21468E-5 41163 0 8.24389E-6
2-202153480-T-G p.Glu412Asp missense ALS2CR12 2 82200 2.43309E-5 41100 0 3.18471E-5
2-202153483-A-ATTC p.Lys410dup disruptive_inframe_insertion ALS2CR12 6 82082 7.30976E-5 41041 0 3.1841E-5
2-202153500-T-G p.Lys406Gln missense ALS2CR12 1 81338 1.22944E-5 40669 0 4.02696E-6
2-202153504-C-T p.Ala119Thr missense+splice_region ALS2CR12 1 81136 1.2325E-5 40568 0 NA
2-202154147-A-T n.163+7T>A splice_region ALS2CR12 3 82618 3.63117E-5 41309 0 NA
2-202154156-T-C n.161A>G splice_region ALS2CR12 3 82892 3.61917E-5 41446 0 3.984E-6
2-202154174-C-G c.1211+6G>C splice_region ALS2CR12 105 83124 0.00126317 41562 0 0.003125
2-202154175-C-T c.1211+5G>A splice_region ALS2CR12 4 83122 4.8122E-5 41561 0 3.1839E-5
2-202154176-G-A c.1211+4C>T splice_region ALS2CR12 3 83132 3.60872E-5 41566 0 6.59957E-5
2-202154189-A-G p.Ile401Thr missense ALS2CR12 2 83242 2.40263E-5 41621 0 0.00100705
2-202154191-G-A p.Asn400Asn synonymous ALS2CR12 1 83244 1.20129E-5 41622 0 NA
2-202154198-T-G p.Glu398Ala missense ALS2CR12 3 83280 3.60231E-5 41640 0 5.03525E-4
2-202154199-C-G p.Glu398Gln missense ALS2CR12 3 83286 3.60205E-5 41643 0 2.47235E-5
2-202154200-C-T p.Thr397Thr synonymous ALS2CR12 8641 83116 0.103963 41558 500 0.0970762
2-202154201-G-A p.Thr397Met missense ALS2CR12 5 83290 6.00312E-5 41645 0 4.37529E-5
2-202154207-A-T p.Ile395Asn missense ALS2CR12 3 83322 3.60049E-5 41661 0 NA
2-202154214-T-C p.Ile393Val missense ALS2CR12 1 83324 1.20013E-5 41662 0 8.23886E-6
2-202154217-T-C p.Thr392Ala missense ALS2CR12 2 83330 2.4001E-5 41665 0 3.97659E-6
2-202154220-G-A p.His391Tyr missense ALS2CR12 1 83336 1.19996E-5 41668 0 6.36902E-5
2-202154227-C-T p.Lys388Lys synonymous ALS2CR12 1 83354 1.1997E-5 41677 0 1.27356E-4
2-202154232-C-T p.Glu387Lys missense ALS2CR12 7 83360 8.39731E-5 41680 0 1.59195E-4
2-202154241-C-T p.Glu384Lys missense ALS2CR12 4 83364 4.79823E-5 41682 0 6.36862E-5
2-202154244-C-G p.Ala383Pro missense ALS2CR12 1 83366 1.19953E-5 41683 0 NA
2-202154246-A-T p.Phe382Tyr missense ALS2CR12 1 83370 1.19947E-5 41685 0 NA
2-202154247-A-G p.Phe382Leu missense ALS2CR12 23 83372 2.75872E-4 41686 0 5.73248E-4
2-202154260-C-A p.Met377Ile missense ALS2CR12 1 83376 1.19939E-5 41688 0 3.97665E-6
2-202154283-T-C p.Ile370Val missense ALS2CR12 7 83360 8.39731E-5 41680 0 8.23954E-6
2-202154296-G-C c.1102-7C>G splice_region ALS2CR12 1 83352 1.19973E-5 41676 0 NA
2-202154427-G-A p.Gln365* stop_gained ALS2CR12 1 83366 1.19953E-5 41683 0 3.98635E-6
2-202154443-A-G p.Tyr359Tyr synonymous ALS2CR12 1 83366 1.19953E-5 41683 0 NA
2-202154463-G-C p.Leu353Val missense ALS2CR12 1 83374 1.19941E-5 41687 0 NA
2-202154468-T-C p.Glu351Gly missense ALS2CR12 35 83370 4.19815E-4 41685 0 2.88565E-4
2-202154476-A-G p.Leu348Leu synonymous ALS2CR12 1 83370 1.19947E-5 41685 0 6.37024E-5
2-202154488-A-G p.His344His synonymous ALS2CR12 1 83366 1.19953E-5 41683 0 3.18532E-5
2-202154511-G-A p.Gln337* stop_gained ALS2CR12 1 83336 1.19996E-5 41668 0 NA
2-202154513-A-G p.Met336Thr missense ALS2CR12 2 83334 2.39998E-5 41667 0 3.97665E-6
2-202154531-A-T p.Leu330Gln missense ALS2CR12 3 83292 3.60179E-5 41646 0 1.73408E-4
2-202154533-G-A p.Val329Val synonymous ALS2CR12 58 83294 6.96329E-4 41647 0 0.00159276
2-202154538-C-G p.Asp328His missense ALS2CR12 2 83256 2.40223E-5 41628 0 NA
2-202154549-CTATT-C p.Asn323fs frameshift ALS2CR12 1 83178 1.20224E-5 41589 0 7.9614E-6
2-202154564-C-T p.Arg319Lys missense ALS2CR12 1 82960 1.2054E-5 41480 0 1.99807E-5
2-202154572-G-A p.Pro316Pro synonymous ALS2CR12 1 82736 1.20866E-5 41368 0 NA
2-202163954-A-G c.942+7T>C splice_region ALS2CR12 1 82704 1.20913E-5 41352 0 3.18512E-5
2-202163981-C-G p.Glu308Gln missense ALS2CR12 4 82800 4.83092E-5 41400 0 3.18735E-5
2-202163995-G-A p.Thr303Ile missense ALS2CR12 1 82822 1.20741E-5 41411 0 8.23886E-6
2-202163995-GT-TC p.Thr303Asp missense ALS2CR12 1 82822 1.20741E-5 41411 0 NA
2-202164003-T-C p.Gln300Gln synonymous ALS2CR12 25 82800 3.01932E-4 41400 0 0.00251762
2-202164015-C-G p.Leu296Phe missense ALS2CR12 2 82762 2.41657E-5 41381 0 6.59109E-5
2-202164029-A-G c.880-6T>C splice_region ALS2CR12 1 82606 1.21057E-5 41303 0 NA
2-202172236-A-G c.879+6T>C splice_region ALS2CR12 1 82866 1.20677E-5 41433 0 3.1835E-5
2-202172237-G-A c.879+5C>T splice_region ALS2CR12 13 82880 1.56853E-4 41440 0 1.59195E-4
2-202172248-C-T p.Glu291Glu synonymous ALS2CR12 1 83028 1.20441E-5 41514 0 4.37578E-5
2-202172250-C-T p.Glu291Lys missense ALS2CR12 1 83032 1.20435E-5 41516 0 8.24185E-6
2-202172251-T-C p.Gln290Gln synonymous ALS2CR12 1 83032 1.20435E-5 41516 0 3.97798E-6
2-202172256-T-C p.Ile289Val missense ALS2CR12 21 83098 2.52714E-4 41549 1 0.00251762
2-202172257-GA-G p.Phe288fs frameshift ALS2CR12 1 83106 1.20328E-5 41553 0 NA
2-202172267-A-T p.Phe285Tyr missense ALS2CR12 1 83152 1.20262E-5 41576 0 6.25E-4
2-202172273-G-A p.Ala283Val missense ALS2CR12 1 83176 1.20227E-5 41588 0 NA
2-202172277-T-C p.Ser282Gly missense ALS2CR12 3 83192 3.60612E-5 41596 0 NA
2-202172286-C-A p.Glu279* stop_gained ALS2CR12 1 83208 1.20181E-5 41604 0 3.97716E-6
2-202172295-T-A p.Lys276* stop_gained ALS2CR12 2 83186 2.40425E-5 41593 0 1.64769E-5
2-202172299-A-T p.Asp274Glu missense ALS2CR12 8 83168 9.61908E-5 41584 0 2.54907E-4
2-202172299-ATCT-A p.Glu273del disruptive_inframe_deletion ALS2CR12 1 83168 1.20239E-5 41584 0 3.97766E-6
2-202172323-G-A p.Phe266Phe synonymous ALS2CR12 2 83020 2.40906E-5 41510 0 6.76515E-5
2-202172325-AT-A p.Lys265fs frameshift ALS2CR12 8 83022 9.636E-5 41511 0 2.54793E-4
2-202172327-T-A p.Lys265Ile missense ALS2CR12 4 83010 4.8187E-5 41505 0 8.75552E-5
2-202172333-G-T p.Thr263Asn missense ALS2CR12 1 82944 1.20563E-5 41472 0 NA
2-202172336-A-T p.Met262Lys missense ALS2CR12 1 82908 1.20616E-5 41454 0 NA
2-202172337-T-C p.Met262Val missense ALS2CR12 1 82916 1.20604E-5 41458 0 NA
2-202172338-CT-C p.Lys261fs frameshift ALS2CR12 2 82922 2.41191E-5 41461 0 3.98073E-6
2-202172349-T-C c.776-4A>G splice_region ALS2CR12 2 82684 2.41885E-5 41342 0 NA
2-202173867-T-C c.775+7A>G splice_region ALS2CR12 1 82684 1.20942E-5 41342 0 NA
2-202173880-GTAGC-G p.Leu256fs frameshift ALS2CR12 3 82898 3.61891E-5 41449 0 6.36471E-5
2-202173895-C-A p.Glu252* stop_gained ALS2CR12 1 83038 1.20427E-5 41519 0 7.95412E-6
2-202173897-C-T p.Arg251Gln missense ALS2CR12 3 83030 3.61315E-5 41515 0 3.18451E-5
2-202173898-G-A p.Arg251* stop_gained ALS2CR12 1 83032 1.20435E-5 41516 0 3.1839E-5
2-202173901-C-G p.Glu250Gln missense ALS2CR12 4 83042 4.81684E-5 41521 0 2.4717E-5
2-202173902-G-A p.Phe249Phe synonymous ALS2CR12 3 83082 3.61089E-5 41541 0 1.47158E-4
2-202173913-C-A p.Asp246Tyr missense ALS2CR12 2 83116 2.40628E-5 41558 0 8.23859E-6
2-202173920-C-T p.Trp243* stop_gained ALS2CR12 1 83118 1.20311E-5 41559 0 3.18451E-5
2-202173926-C-T p.Ala241Ala synonymous ALS2CR12 23 83106 2.76755E-4 41553 0 0.00151057
2-202173932-C-CTGTTTTGACCA p.Gln239fs frameshift ALS2CR12 11 83112 1.32352E-4 41556 0 4.45746E-4
2-202173934-G-T p.Gln239Lys missense ALS2CR12 1 83116 1.20314E-5 41558 0 8.23873E-6
2-202173940-A-G p.Ser237Pro missense ALS2CR12 1 83082 1.20363E-5 41541 0 NA
2-202173941-C-T p.Trp236* stop_gained ALS2CR12 10 83082 1.20363E-4 41541 0 4.11936E-5
2-202173944-C-G p.Lys235Asn missense ALS2CR12 1 83070 1.2038E-5 41535 0 NA
2-202173949-C-T p.Glu234Lys missense ALS2CR12 1 83042 1.20421E-5 41521 0 3.97883E-6
2-202173956-T-G p.Glu231Asp missense ALS2CR12 1 82992 1.20494E-5 41496 0 8.24022E-6
2-202173968-A-G p.Ser227Ser synonymous ALS2CR12 1 82832 1.20726E-5 41416 0 NA
2-202173971-G-C p.Asp226Glu missense+splice_region ALS2CR12 1 82752 1.20843E-5 41376 0 3.98219E-6
2-202173976-G-C c.676-3C>G splice_region ALS2CR12 1 82594 1.21074E-5 41297 0 NA
2-202173977-G-A c.676-4C>T splice_region ALS2CR12 1 82564 1.21118E-5 41282 0 3.18532E-5
2-202195192-C-T c.675+1G>A splice_donor ALS2CR12 1 82200 1.21655E-5 41100 0 NA
2-202195194-T-C p.Gln225Arg missense+splice_region ALS2CR12 1 82240 1.21595E-5 41120 0 7.59502E-5
2-202195196-A-G p.Tyr224Tyr synonymous ALS2CR12 1 82236 1.21601E-5 41118 0 8.42091E-6
2-202195199-C-T p.Thr223Thr synonymous ALS2CR12 6 82306 7.28987E-5 41153 0 3.11616E-4
2-202195200-G-A p.Thr223Met missense ALS2CR12 5 82344 6.07209E-5 41172 0 2.52186E-5
2-202195203-C-T p.Arg222His missense ALS2CR12 1 82406 1.2135E-5 41203 0 1.6794E-5
2-202195204-G-A p.Arg222Cys missense ALS2CR12 6 82434 7.27855E-5 41217 0 1.59307E-4
2-202195231-C-A p.Glu213* stop_gained ALS2CR12 4 82710 4.83617E-5 41355 0 4.1848E-5
2-202195236-C-T p.Gly211Glu missense ALS2CR12 1 82716 1.20896E-5 41358 0 1.67384E-5
2-202195239-A-G p.Met210Thr missense ALS2CR12 7 82736 8.46065E-5 41368 0 6.25E-4
2-202195245-T-C p.Glu208Gly missense+splice_region ALS2CR12 2 82734 2.41739E-5 41367 0 4.18725E-5
2-202195452-G-T c.622+7C>A splice_region ALS2CR12 1 82472 1.21253E-5 41236 0 NA
2-202195454-AG-A c.622+4delC splice_region ALS2CR12 1 82492 1.21224E-5 41246 0 NA
2-202195460-T-C p.Leu207Leu splice_region+synonymous ALS2CR12 4 82518 4.84743E-5 41259 0 1.59538E-5
2-202195480-A-G p.Leu201Leu synonymous ALS2CR12 1 82598 1.21068E-5 41299 0 NA
2-202195486-CT-C p.Glu199fs frameshift ALS2CR12 2 82644 2.42002E-5 41322 0 NA
2-202195488-G-T p.Ala198Glu missense ALS2CR12 35 82610 4.23678E-4 41305 0 7.65746E-4
2-202195493-C-G p.Leu196Phe missense ALS2CR12 12 82600 1.45278E-4 41300 0 1.27584E-4
2-202195497-G-A p.Ala195Val missense ALS2CR12 1 82582 1.21092E-5 41291 0 3.19101E-5
2-202195500-G-C p.Ala194Gly missense ALS2CR12 1 82574 1.21103E-5 41287 0 3.98575E-6
2-202195501-C-T p.Ala194Thr missense ALS2CR12 4 82568 4.84449E-5 41284 0 3.18979E-5
2-202195508-G-A p.Asn191Asn synonymous ALS2CR12 2 82566 2.4223E-5 41283 0 NA
2-202195515-T-G p.Glu189Ala missense ALS2CR12 15 82506 1.81805E-4 41253 0 0.00302115
2-202195519-A-G p.Leu188Leu synonymous ALS2CR12 3 82462 3.63804E-5 41231 0 1.19612E-5
2-202195525-T-C p.Ser186Gly missense ALS2CR12 1 82400 1.21359E-5 41200 0 5.03525E-4
2-202195529-T-G p.Glu184Asp missense ALS2CR12 1 82396 1.21365E-5 41198 0 5.03525E-4
2-202195548-T-C p.Lys178Arg missense ALS2CR12 1 82074 1.21841E-5 41037 0 4.00359E-6
2-202195549-T-C p.Lys178Glu missense ALS2CR12 1 82058 1.21865E-5 41029 0 3.18776E-5
2-202207087-G-A c.524+6C>T splice_region ALS2CR12 1 82942 1.20566E-5 41471 0 8.25546E-6
2-202207103-T-C p.Asn172Asp missense ALS2CR12 1 83042 1.20421E-5 41521 0 NA
2-202207106-C-A p.Glu171* stop_gained ALS2CR12 1 83046 1.20415E-5 41523 0 8.24851E-6
2-202207113-CTG-C p.Gln168fs frameshift ALS2CR12 43 83060 5.17698E-4 41530 0 2.18716E-4
2-202207114-T-C p.Gln168Arg missense ALS2CR12 1 83050 1.20409E-5 41525 0 NA
2-202207132-C-A p.Arg162Leu missense ALS2CR12 25 83038 3.01067E-4 41519 0 5.04032E-4
2-202207133-G-A p.Arg162Cys missense ALS2CR12 7 83036 8.43008E-5 41518 0 3.18552E-5
2-202207155-C-G c.463-1G>C splice_acceptor ALS2CR12 2 82952 2.41103E-5 41476 0 1.19315E-5
2-202208885-T-G c.462+8A>C splice_region ALS2CR12 1 82714 1.20899E-5 41357 0 8.24035E-6
2-202208891-A-T c.462+2T>A splice_donor ALS2CR12 2 82796 2.41558E-5 41398 0 4.02489E-6
2-202208893-C-T p.Leu154Leu splice_region+synonymous ALS2CR12 5 82850 6.035E-5 41425 0 NA
2-202208896-T-G p.Lys153Asn missense ALS2CR12 1 82886 1.20648E-5 41443 0 NA
2-202208917-TC-T p.Arg146fs frameshift ALS2CR12 2 83000 2.40964E-5 41500 0 8.23737E-6
2-202208966-A-G p.Leu130Pro missense ALS2CR12 1 82898 1.2063E-5 41449 0 8.23683E-6
2-202208967-G-A p.Leu130Leu synonymous ALS2CR12 126 82890 0.00152009 41445 1 0.00219773
2-202208984-G-C p.Thr124Ser missense+splice_region ALS2CR12 1 82576 1.21101E-5 41288 0 0.001875
2-202208985-T-C p.Thr124Ala missense+splice_region ALS2CR12 3 82554 3.63399E-5 41277 0 6.37283E-5
2-202208990-T-C c.369-4A>G splice_region ALS2CR12 3 82310 3.64476E-5 41155 0 6.37064E-5
2-202208990-TAGG-T c.369-7_369-5delCCT splice_region ALS2CR12 1 82310 1.21492E-5 41155 0 NA
2-202208991-A-G c.369-5T>C splice_region ALS2CR12 2 82296 2.43025E-5 41148 0 1.59468E-5
2-202208993-G-A c.369-7C>T splice_region ALS2CR12 3 82246 3.64759E-5 41123 0 NA
2-202211264-C-T c.368+1G>A splice_donor ALS2CR12 4 83214 4.80688E-5 41607 0 1.65202E-5
2-202211278-C-T p.Gly119Ser missense ALS2CR12 1 83298 1.20051E-5 41649 0 3.18512E-5
2-202211280-T-C p.Lys118Arg missense ALS2CR12 1 83290 1.20062E-5 41645 0 3.97829E-6
2-202211286-G-A p.Pro116Leu missense ALS2CR12 5 83316 6.00125E-5 41658 0 5.7711E-5
2-202211293-C-G p.Glu114Gln missense ALS2CR12 1 83330 1.20005E-5 41665 0 NA
2-202211294-C-T p.Ser113Ser synonymous ALS2CR12 1 83328 1.20008E-5 41664 0 1.19315E-5
2-202211295-G-T p.Ser113* stop_gained ALS2CR12 4 83328 4.80031E-5 41664 0 3.5793E-5
2-202211295-G-A p.Ser113Leu missense ALS2CR12 2 83326 2.40021E-5 41663 0 1.5908E-5
2-202211296-A-G p.Ser113Pro missense ALS2CR12 1 83336 1.19996E-5 41668 0 NA
2-202211300-CCACCGCTTT-C p.Lys109_Trp111del disruptive_inframe_deletion ALS2CR12 4 83338 4.79973E-5 41669 0 2.47219E-5
2-202211303-C-T p.Arg110Arg synonymous ALS2CR12 3 83344 3.59954E-5 41672 0 6.36862E-5
2-202211304-C-T p.Arg110Gln missense ALS2CR12 4 83346 4.79927E-5 41673 0 4.94421E-5
2-202211308-T-C p.Lys109Glu missense ALS2CR12 1 83350 1.19976E-5 41675 0 1.64796E-5
2-202211317-C-T p.Asp106Asn missense ALS2CR12 2 83358 2.39929E-5 41679 0 2.47182E-5
2-202211322-A-G p.Met104Thr missense ALS2CR12 2 83352 2.39946E-5 41676 0 3.18695E-5
2-202211324-C-G p.Glu103Asp missense ALS2CR12 1 83360 1.19962E-5 41680 0 1.6478E-5
2-202211329-C-A p.Asp102Tyr missense ALS2CR12 5 83352 5.99866E-5 41676 0 NA
2-202211331-C-G p.Gly101Ala missense ALS2CR12 1 83352 1.19973E-5 41676 0 NA
2-202211337-G-C p.Thr99Ser missense ALS2CR12 11 83354 1.31967E-4 41677 0 1.59236E-4
2-202211343-G-A p.Ser97Phe missense ALS2CR12 1 83350 1.19976E-5 41675 0 NA
2-202211355-C-T p.Arg93Gln missense ALS2CR12 2 83312 2.40061E-5 41656 0 6.36821E-5
2-202211355-C-G p.Arg93Pro missense ALS2CR12 7 83312 8.40215E-5 41656 0 6.76052E-5
2-202211361-C-T p.Arg91Gln missense ALS2CR12 10 83304 1.20042E-4 41652 0 1.64794E-5
2-202211362-G-A p.Arg91Trp missense ALS2CR12 6 83312 7.20184E-5 41656 0 3.1839E-5
2-202211376-C-T p.Gly86Asp missense ALS2CR12 2 83294 2.40113E-5 41647 0 NA
2-202211386-C-T p.Val83Met missense ALS2CR12 4 83270 4.80365E-5 41635 0 6.76116E-5
2-202211388-T-C p.Asn82Ser missense ALS2CR12 1 83278 1.2008E-5 41639 0 0.00100806
2-202211391-A-C p.Ile81Ser missense ALS2CR12 1 83266 1.20097E-5 41633 0 NA
2-202211395-C-G p.Val80Leu missense ALS2CR12 30 83270 3.60274E-4 41635 0 9.86947E-4
2-202212820-T-C n.798+3A>G splice_region ALS2CR12 1 61628 1.62264E-5 30814 0 NA
2-202212823-C-T n.798G>A splice_region ALS2CR12 63 62626 0.00100597 31313 0 0.00375
2-202212980-A-G p.Phe77Phe synonymous ALS2CR12 8 82610 9.68406E-5 41305 0 6.25E-4
2-202212984-GATTT-G p.Lys75fs frameshift ALS2CR12 1 82658 1.2098E-5 41329 0 1.19988E-5
2-202212987-T-C p.Lys75Arg missense ALS2CR12 1 82634 1.21016E-5 41317 0 NA
2-202212995-C-G p.Glu72Asp missense ALS2CR12 132 82634 0.00159741 41317 1 0.00312102
2-202213000-C-T p.Glu71Lys missense ALS2CR12 1 82620 1.21036E-5 41310 0 NA
2-202213002-T-A p.Gln70Leu missense ALS2CR12 2 82616 2.42084E-5 41308 0 8.00154E-6
2-202213004-C-G p.Arg69Ser missense ALS2CR12 1 82622 1.21033E-5 41311 0 NA
2-202213027-T-C c.186-2A>G splice_acceptor ALS2CR12 2 82454 2.42559E-5 41227 0 1.65431E-5
2-202215430-T-C c.185+4A>G splice_region ALS2CR12 3 82928 3.6176E-5 41464 0 2.47647E-4
2-202215435-T-A p.Lys62* stop_gained ALS2CR12 1 83012 1.20465E-5 41506 0 NA
2-202215451-T-G p.Lys56Asn missense ALS2CR12 4 83124 4.81209E-5 41562 0 NA
2-202215453-T-C p.Lys56Glu missense ALS2CR12 3 83144 3.6082E-5 41572 0 3.18593E-5
2-202215454-T-C p.Thr55Thr synonymous ALS2CR12 6 83146 7.21622E-5 41573 0 1.21923E-5
2-202215456-T-C p.Thr55Ala missense ALS2CR12 4 83144 4.81093E-5 41572 0 3.30753E-5
2-202215484-A-G p.Ala45Ala synonymous ALS2CR12 29 83164 3.48709E-4 41582 0 6.37552E-4
2-202215492-C-G p.Val43Leu missense ALS2CR12 49728 82558 0.60234 41279 15204 0.644959
2-202215495-G-C p.Leu42Val missense ALS2CR12 1 83164 1.20244E-5 41582 0 NA
2-202215498-G-A p.Pro41Ser missense ALS2CR12 2 83154 2.40518E-5 41577 0 3.98464E-6
2-202216008-T-C c.113+7A>G splice_region ALS2CR12 1 82118 1.21776E-5 41059 0 NA
2-202216019-A-G p.Ser37Pro missense ALS2CR12 1 82464 1.21265E-5 41232 0 NA
2-202216021-C-A p.Ser36Ile missense ALS2CR12 2 82496 2.42436E-5 41248 0 NA
2-202216033-T-G p.Asn32Thr missense ALS2CR12 1 82732 1.20872E-5 41366 0 NA
2-202216034-T-A p.Asn32Tyr missense ALS2CR12 1 82730 1.20875E-5 41365 0 8.37016E-6
2-202216039-C-T p.Arg30His missense ALS2CR12 12 82790 1.44945E-4 41395 0 1.59256E-4
2-202216039-C-A p.Arg30Leu missense ALS2CR12 7 82788 8.45533E-5 41394 0 8.76278E-5
2-202216040-G-A p.Arg30Cys missense ALS2CR12 3 82808 3.62284E-5 41404 0 1.2738E-4
2-202216056-C-G p.Lys24Asn missense ALS2CR12 2 82924 2.41185E-5 41462 0 8.32556E-6
2-202216057-T-C p.Lys24Arg missense ALS2CR12 1 82932 1.20581E-5 41466 0 NA
2-202216064-G-C p.Leu22Val missense ALS2CR12 2 82958 2.41086E-5 41479 0 NA
2-202216069-C-T p.Arg20Gln missense ALS2CR12 1 82956 1.20546E-5 41478 0 7.48578E-5
2-202216070-G-A p.Arg20Trp missense ALS2CR12 7 82968 8.43699E-5 41484 0 3.32701E-5
2-202216077-C-T p.Leu17Leu synonymous ALS2CR12 1 82980 1.20511E-5 41490 0 NA
2-202216089-G-T p.Asp13Glu missense ALS2CR12 2 82968 2.41057E-5 41484 0 3.18573E-5
2-202216113-A-C p.Pro5Pro synonymous ALS2CR12 4 82848 4.82812E-5 41424 0 3.18715E-5
2-202216116-G-A p.Asn4Asn synonymous ALS2CR12 1 82798 1.20776E-5 41399 0 8.37268E-6
2-202216120-G-C p.Pro3Arg missense ALS2CR12 1 82744 1.20855E-5 41372 0 NA
2-202216123-T-C p.Tyr2Cys missense ALS2CR12 1 82700 1.20919E-5 41350 0 3.36123E-5
2-202216127-T-C p.Met1? start_lost ALS2CR12 1 82630 1.21021E-5 41315 0 7.97855E-6
2-202216133-A-G c.-6T>C 5_prime_UTR_premature_start_codon_gain ALS2CR12 1 82518 1.21186E-5 41259 0 NA
2-202216181-T-C c.-47-7A>G splice_region ALS2CR12 1 80384 1.24403E-5 40192 0 NA