Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-111624616-C-T p.Pro5Leu missense ACTL7A 1 82566 1.21115E-5 41283 0 NA
9-111624619-C-A p.Ala6Glu missense ACTL7A 1 82602 1.21062E-5 41301 0 NA
9-111624626-C-T p.Ile8Ile synonymous ACTL7A 2 82686 2.41879E-5 41343 0 NA
9-111624639-C-T p.Pro13Ser missense ACTL7A 1 82750 1.20846E-5 41375 0 NA
9-111624639-CCCA-C p.Thr14del disruptive_inframe_deletion ACTL7A 2 82750 2.41692E-5 41375 0 4.02081E-6
9-111624644-C-A p.Thr14Thr synonymous ACTL7A 1 82820 1.20744E-5 41410 0 5.03525E-4
9-111624664-C-T p.Ala21Val missense ACTL7A 3 82918 3.61803E-5 41459 0 3.64765E-4
9-111624664-C-G p.Ala21Gly missense ACTL7A 1 82918 1.20601E-5 41459 0 5.93804E-5
9-111624665-C-T p.Ala21Ala synonymous ACTL7A 1 82944 1.20563E-5 41472 0 8.47702E-6
9-111624669-C-T p.Leu23Leu synonymous ACTL7A 2 82958 2.41086E-5 41479 0 8.46654E-6
9-111624682-C-A p.Ala27Asp missense ACTL7A 1 82934 1.20578E-5 41467 0 8.4391E-6
9-111624688-A-C p.Gln29Pro missense ACTL7A 2 82954 2.41097E-5 41477 0 NA
9-111624688-A-G p.Gln29Arg missense ACTL7A 1 82954 1.20549E-5 41477 0 NA
9-111624695-C-T p.Ala31Ala synonymous ACTL7A 1 82984 1.20505E-5 41492 0 3.99026E-6
9-111624700-T-C p.Leu33Ser missense ACTL7A 1 82972 1.20523E-5 41486 0 1.19704E-5
9-111624704-GG-AT p.ArgAsp34ArgTyr missense ACTL7A 1 82984 1.20505E-5 41492 0 NA
9-111624704-G-A p.Arg34Arg synonymous ACTL7A 1 82984 1.20505E-5 41492 0 3.18573E-5
9-111624705-G-A p.Asp35Asn missense ACTL7A 3 82990 3.61489E-5 41495 0 4.20041E-5
9-111624705-G-T p.Asp35Tyr missense ACTL7A 1 82990 1.20496E-5 41495 0 3.18593E-5
9-111624707-T-C p.Asp35Asp synonymous ACTL7A 1 82980 1.20511E-5 41490 0 7.97995E-6
9-111624712-C-T p.Pro37Leu missense ACTL7A 33 82960 3.97782E-4 41480 0 4.78042E-4
9-111624712-C-G p.Pro37Arg missense ACTL7A 1 82960 1.2054E-5 41480 0 NA
9-111624713-G-A p.Pro37Pro synonymous ACTL7A 1 82984 1.20505E-5 41492 0 1.67661E-5
9-111624714-G-A p.Ala38Thr missense ACTL7A 1 82958 1.20543E-5 41479 0 NA
9-111624716-G-A p.Ala38Ala synonymous ACTL7A 2 82984 2.4101E-5 41492 0 NA
9-111624721-G-A p.Arg40Gln missense ACTL7A 2 83014 2.40923E-5 41507 0 6.25E-4
9-111624722-G-A p.Arg40Arg synonymous ACTL7A 3 83020 3.61359E-5 41510 0 1.99213E-5
9-111624725-C-T p.Ala41Ala synonymous ACTL7A 4 83006 4.81893E-5 41503 0 3.58617E-5
9-111624725-C-A p.Ala41Ala synonymous ACTL7A 1 83006 1.20473E-5 41503 0 7.49138E-5
9-111624726-G-A p.Val42Met missense ACTL7A 4 83052 4.81626E-5 41526 0 5.03525E-4
9-111624732-G-A p.Val44Ile missense ACTL7A 1 83074 1.20375E-5 41537 0 8.29834E-6
9-111624735-C-T p.Arg45Cys missense ACTL7A 5 83092 6.01743E-5 41546 0 6.37674E-5
9-111624742-C-T p.Thr47Met missense ACTL7A 1 83130 1.20294E-5 41565 0 2.78574E-5
9-111624743-G-A p.Thr47Thr synonymous ACTL7A 5 83134 6.01439E-5 41567 0 6.25E-4
9-111624767-T-C p.Thr55Thr synonymous ACTL7A 13 83214 1.56224E-4 41607 0 0.00125
9-111624780-G-T p.Ala60Ser missense ACTL7A 1 83226 1.20155E-5 41613 0 NA
9-111624782-CA-C p.Lys61fs frameshift ACTL7A 1 83230 1.20149E-5 41615 0 NA
9-111624792-C-A p.Pro64Thr missense ACTL7A 1 83238 1.20137E-5 41619 0 NA
9-111624798-CAGG-C p.Glu67del disruptive_inframe_deletion ACTL7A 3 83238 3.60412E-5 41619 0 1.2375E-4
9-111624801-G-T p.Glu67* stop_gained ACTL7A 3 83230 3.60447E-5 41615 0 NA
9-111624813-G-A p.Ala71Thr missense ACTL7A 2 83222 2.40321E-5 41611 0 8.24824E-6
9-111624822-G-A p.Val74Met missense ACTL7A 7 83172 8.41629E-5 41586 0 3.18512E-5
9-111624853-G-A p.Gly84Asp missense ACTL7A 1 83130 1.20294E-5 41565 0 NA
9-111624859-C-G p.Ala86Gly missense ACTL7A 1 83114 1.20317E-5 41557 0 NA
9-111624861-G-A p.Gly87Ser missense ACTL7A 15 83128 1.80445E-4 41564 0 6.25E-4
9-111624864-C-T p.Leu88Leu synonymous ACTL7A 1 83160 1.2025E-5 41580 0 1.59158E-5
9-111624890-A-C p.Ser96Ser synonymous ACTL7A 7 83238 8.40962E-5 41619 0 1.40116E-4
9-111624895-C-T p.Thr98Met missense ACTL7A 4 83246 4.80504E-5 41623 0 9.06708E-5
9-111624899-G-A p.Val99Val synonymous ACTL7A 2 83266 2.40194E-5 41633 0 3.97753E-6
9-111624901-G-A p.Gly100Asp missense ACTL7A 1 83244 1.20129E-5 41622 0 1.15403E-4
9-111624910-A-G p.Tyr103Cys missense ACTL7A 1 83276 1.20083E-5 41638 0 NA
9-111624911-C-T p.Tyr103Tyr synonymous ACTL7A 2 83270 2.40183E-5 41635 0 7.95412E-6
9-111624919-C-A p.Thr106Asn missense ACTL7A 1 83284 1.20071E-5 41642 0 NA
9-111624929-T-C p.Thr109Thr synonymous ACTL7A 1 83304 1.20042E-5 41652 0 2.47202E-5
9-111624931-G-A p.Gly110Glu missense ACTL7A 1 83308 1.20036E-5 41654 0 7.95456E-6
9-111624936-A-G p.Asn112Asp missense ACTL7A 2 83306 2.40079E-5 41653 0 NA
9-111624937-A-G p.Asn112Ser missense ACTL7A 13 83300 1.56062E-4 41650 0 6.37024E-5
9-111624938-T-G p.Asn112Lys missense ACTL7A 13 83308 1.56047E-4 41654 0 1.27486E-4
9-111624939-C-T p.Arg113Cys missense ACTL7A 2 83304 2.40085E-5 41652 0 3.18674E-5
9-111624939-C-A p.Arg113Ser missense ACTL7A 1 83304 1.20042E-5 41652 0 3.29603E-5
9-111624940-G-A p.Arg113His missense ACTL7A 4 83310 4.80134E-5 41655 0 0.00100705
9-111624953-C-T p.Phe117Phe synonymous ACTL7A 12 83326 1.44013E-4 41663 0 9.88777E-5
9-111624954-G-A p.Val118Met missense ACTL7A 6 83326 7.20063E-5 41663 0 6.76106E-5
9-111624956-G-A p.Val118Val synonymous ACTL7A 2 83332 2.40004E-5 41666 0 4.77243E-5
9-111624961-A-G p.Gln120Arg missense ACTL7A 1 83314 1.20028E-5 41657 0 1.6478E-5
9-111624963-G-A p.Glu121Lys missense ACTL7A 1 83308 1.20036E-5 41654 0 3.97725E-6
9-111624965-A-T p.Glu121Asp missense ACTL7A 1 83324 1.20013E-5 41662 0 3.97706E-6
9-111624968-C-G p.Leu122Leu synonymous ACTL7A 2 83324 2.40027E-5 41662 0 1.59215E-4
9-111624974-C-T p.Asn124Asn synonymous ACTL7A 3 83318 3.60066E-5 41659 0 3.97706E-6
9-111624978-A-G p.Asn126Asp missense ACTL7A 1 83324 1.20013E-5 41662 0 3.18613E-5
9-111624980-C-T p.Asn126Asn synonymous ACTL7A 43 83328 5.16033E-4 41664 0 9.31007E-4
9-111624985-A-G p.His128Arg missense ACTL7A 2 83330 2.4001E-5 41665 0 1.03397E-4
9-111624989-C-T p.Leu129Leu synonymous ACTL7A 1 83342 1.19988E-5 41671 0 NA
9-111625008-C-G p.Arg136Gly missense ACTL7A 1 83332 1.20002E-5 41666 0 NA
9-111625008-C-A p.Arg136Arg synonymous ACTL7A 1 83332 1.20002E-5 41666 0 2.47174E-5
9-111625008-C-T p.Arg136* stop_gained ACTL7A 2 83332 2.40004E-5 41666 0 1.19299E-5
9-111625009-G-A p.Arg136Gln missense ACTL7A 17 83332 2.04003E-4 41666 0 2.23001E-4
9-111625013-T-C p.His137His synonymous ACTL7A 1 83332 1.20002E-5 41666 0 3.18593E-5
9-111625020-A-G p.Ile140Val missense ACTL7A 2 83328 2.40015E-5 41664 0 3.97662E-6
9-111625023-G-A p.Val141Met missense ACTL7A 1 83320 1.20019E-5 41660 0 6.25E-4
9-111625033-A-T p.Asp144Val missense ACTL7A 7 83298 8.40356E-5 41649 0 0.00151057
9-111625034-T-C p.Asp144Asp synonymous ACTL7A 4 83300 4.80192E-5 41650 0 8.24022E-6
9-111625038-G-A p.Val146Met missense ACTL7A 1 83288 1.20065E-5 41644 0 3.18451E-5
9-111625039-T-C p.Val146Ala missense ACTL7A 2 83282 2.40148E-5 41641 0 NA
9-111625040-GC-AA p.ValGln146ValLys missense ACTL7A 3 83276 3.60248E-5 41638 0 NA
9-111625041-C-T p.Gln147* stop_gained ACTL7A 1 83280 1.20077E-5 41640 0 NA
9-111625043-G-A p.Gln147Gln synonymous ACTL7A 17 83268 2.0416E-4 41634 0 3.50318E-4
9-111625048-T-A p.Ile149Asn missense ACTL7A 1 83258 1.20109E-5 41629 0 8.24266E-6
9-111625050-T-C p.Trp150Arg missense ACTL7A 1 83256 1.20111E-5 41628 0 3.18817E-5
9-111625062-T-A p.Phe154Ile missense ACTL7A 2 83202 2.40379E-5 41601 0 2.47394E-5
9-111625063-T-C p.Phe154Ser missense ACTL7A 1 83186 1.20213E-5 41593 0 NA
9-111625065-C-T p.Arg155* stop_gained ACTL7A 2 83164 2.40489E-5 41582 0 8.24783E-6
9-111625082-C-T p.Ile160Ile synonymous ACTL7A 3 82888 3.61934E-5 41444 0 6.37389E-5
9-111625083-G-C p.Ala161Pro missense ACTL7A 1171 82810 0.0141408 41405 44 0.032766
9-111625083-G-A p.Ala161Thr missense ACTL7A 3 82830 3.62188E-5 41415 0 3.30508E-5
9-111625086-C-T p.Pro162Ser missense ACTL7A 3 82808 3.62284E-5 41404 0 3.58529E-5
9-111625087-C-T p.Pro162Leu missense ACTL7A 3 82684 3.62827E-5 41342 0 6.37633E-5
9-111625088-G-A p.Pro162Pro synonymous ACTL7A 3 82826 3.62205E-5 41413 0 9.56328E-5
9-111625092-G-A p.Glu164Lys missense ACTL7A 1 82730 1.20875E-5 41365 0 NA
9-111625097-T-C p.His165His synonymous ACTL7A 1 82568 1.21112E-5 41284 0 NA
9-111625098-G-A p.Ala166Thr missense ACTL7A 2 82552 2.42272E-5 41276 0 7.99073E-6
9-111625099-C-T p.Ala166Val missense ACTL7A 10 82390 1.21374E-4 41195 0 0.00151057
9-111625100-G-A p.Ala166Ala synonymous ACTL7A 1 82500 1.21212E-5 41250 0 2.00072E-5
9-111625116-C-G p.Pro172Ala missense ACTL7A 1 82960 1.2054E-5 41480 0 4.96936E-5
9-111625117-C-T p.Pro172Leu missense ACTL7A 1 82948 1.20557E-5 41474 0 2.39114E-5
9-111625118-G-A p.Pro172Pro synonymous ACTL7A 3 82952 3.61655E-5 41476 0 3.18552E-5
9-111625123-T-C p.Leu174Pro missense ACTL7A 1 83002 1.20479E-5 41501 0 8.28295E-6
9-111625128-CCA-C p.Thr178fs frameshift ACTL7A 1 83018 1.20456E-5 41509 0 8.29077E-6
9-111625131-C-T p.His177Tyr missense ACTL7A 1 83040 1.20424E-5 41520 0 NA
9-111625133-C-T p.His177His synonymous ACTL7A 1 83044 1.20418E-5 41522 0 NA
9-111625149-T-C p.Tyr183His missense ACTL7A 109 83068 0.00131218 41534 0 0.00137065
9-111625157-A-C p.Glu185Asp missense ACTL7A 2 83106 2.40657E-5 41553 0 4.8372E-4
9-111625160-G-A p.Met186Ile missense ACTL7A 1 83106 1.20328E-5 41553 0 5.03525E-4
9-111625171-C-A p.Ala190Asp missense ACTL7A 16 83120 1.92493E-4 41560 0 2.5481E-4
9-111625182-C-G p.Pro194Ala missense ACTL7A 1 83158 1.20253E-5 41579 0 3.21172E-5
9-111625188-A-G p.Met196Val missense ACTL7A 3 83154 3.60776E-5 41577 0 9.55718E-5
9-111625191-C-T p.His197Tyr missense ACTL7A 2 83152 2.40523E-5 41576 0 4.02029E-6
9-111625197-G-A p.Ala199Thr missense ACTL7A 3 83136 3.60855E-5 41568 0 5.03753E-5
9-111625208-G-A p.Ser202Ser synonymous ACTL7A 2 83156 2.40512E-5 41578 0 2.52037E-5
9-111625209-C-T p.Arg203Cys missense ACTL7A 10 83156 1.20256E-4 41578 0 3.36202E-5
9-111625210-G-A p.Arg203His missense ACTL7A 1 83148 1.20267E-5 41574 0 8.40378E-6
9-111625218-A-G p.Met206Val missense ACTL7A 2 83148 2.40535E-5 41574 0 3.2196E-5
9-111625228-A-G p.Tyr209Cys missense ACTL7A 3 83100 3.61011E-5 41550 0 5.03525E-4
9-111625229-T-C p.Tyr209Tyr synonymous ACTL7A 1 83110 1.20322E-5 41555 0 4.20606E-5
9-111625241-C-T p.Ser213Ser synonymous ACTL7A 1 83016 1.20459E-5 41508 0 6.05997E-5
9-111625242-G-A p.Gly214Ser missense ACTL7A 381 83004 0.00459014 41502 2 0.00484262
9-111625249-T-C p.Val216Ala missense ACTL7A 1 82978 1.20514E-5 41489 0 4.04207E-6
9-111625251-G-C p.Val217Leu missense ACTL7A 5 82970 6.02627E-5 41485 1 8.41439E-6
9-111625256-G-A p.Glu218Glu synonymous ACTL7A 1 82936 1.20575E-5 41468 0 NA
9-111625257-G-A p.Val219Met missense ACTL7A 1 82924 1.20592E-5 41462 0 4.03848E-6
9-111625259-G-A p.Val219Val synonymous ACTL7A 1890 82858 0.0228101 41429 71 0.0434381
9-111625265-T-C p.His221His synonymous ACTL7A 1 82900 1.20627E-5 41450 0 4.83641E-5
9-111625269-G-A p.Val223Met missense ACTL7A 12 82892 1.44767E-4 41446 0 5.03525E-4
9-111625273-C-T p.Ser224Phe missense ACTL7A 1 82870 1.20671E-5 41435 0 NA
9-111625277-C-T p.Tyr225Tyr synonymous ACTL7A 6 82834 7.2434E-5 41417 0 0.00151057
9-111625292-C-T p.Tyr230Tyr synonymous ACTL7A 2 82846 2.41412E-5 41423 0 8.35129E-6
9-111625304-T-C p.Pro234Pro synonymous ACTL7A 2 82868 2.41348E-5 41434 0 6.25E-4
9-111625319-C-T p.Thr239Thr synonymous ACTL7A 1 82912 1.2061E-5 41456 0 3.18492E-5
9-111625320-G-A p.Gly240Arg missense ACTL7A 3 82944 3.6169E-5 41472 0 3.18532E-5
9-111625325-G-C p.Arg241Ser missense ACTL7A 4 82970 4.82102E-5 41485 0 NA
9-111625335-G-A p.Ala245Thr missense ACTL7A 1 83018 1.20456E-5 41509 0 5.03525E-4
9-111625336-C-T p.Ala245Val missense ACTL7A 54 83034 6.50336E-4 41517 0 3.50575E-4
9-111625337-G-A p.Ala245Ala synonymous ACTL7A 13 83040 1.56551E-4 41520 0 2.94781E-4
9-111625345-A-C p.Asp248Ala missense ACTL7A 1 83032 1.20435E-5 41516 0 NA
9-111625348-T-A p.Leu249Gln missense ACTL7A 1 83056 1.20401E-5 41528 0 3.30164E-5
9-111625349-G-C p.Leu249Leu synonymous ACTL7A 2 83060 2.4079E-5 41530 0 NA
9-111625352-A-T p.Thr250Thr synonymous ACTL7A 1 83060 1.20395E-5 41530 0 NA
9-111625355-C-CT p.Tyr252fs frameshift ACTL7A 1 83058 1.20398E-5 41529 0 NA
9-111625365-G-A p.Gly255Ser missense ACTL7A 1 83066 1.20386E-5 41533 0 4.12643E-5
9-111625367-C-A p.Gly255Gly synonymous ACTL7A 3 83064 3.61167E-5 41532 0 7.96071E-6
9-111625374-A-T p.Asn258Tyr missense ACTL7A 12 83100 1.44404E-4 41550 0 0.00125
9-111625376-C-A p.Asn258Lys missense ACTL7A 2 83094 2.40691E-5 41547 0 3.18634E-5
9-111625381-C-T p.Ala260Val missense ACTL7A 4 83102 4.81336E-5 41551 0 9.15386E-5
9-111625381-C-A p.Ala260Glu missense ACTL7A 2 83102 2.40668E-5 41551 0 4.95352E-5
9-111625382-G-A p.Ala260Ala synonymous ACTL7A 4 83110 4.8129E-5 41555 0 1.07448E-4
9-111625384-G-A p.Gly261Glu missense ACTL7A 1 83100 1.20337E-5 41550 0 NA
9-111625397-C-T p.Thr265Thr synonymous ACTL7A 1 83110 1.20322E-5 41555 0 1.65033E-5
9-111625410-G-T p.Gly270Cys missense ACTL7A 6 83110 7.21935E-5 41555 0 9.55779E-5
9-111625415-C-A p.Ile271Ile synonymous ACTL7A 1 83108 1.20325E-5 41554 0 NA
9-111625416-G-A p.Val272Met missense ACTL7A 2 83102 2.40668E-5 41551 0 NA
9-111625457-T-C p.Asp285Asp synonymous ACTL7A 1 82998 1.20485E-5 41499 0 NA
9-111625458-C-A p.Pro286Thr missense ACTL7A 1 82988 1.20499E-5 41494 0 NA
9-111625458-C-G p.Pro286Ala missense ACTL7A 1 82988 1.20499E-5 41494 0 8.24865E-6
9-111625458-C-T p.Pro286Ser missense ACTL7A 2 82988 2.40999E-5 41494 0 3.97795E-6
9-111625462-T-C p.Ile287Thr missense ACTL7A 4 82972 4.8209E-5 41486 0 3.18776E-5
9-111625466-G-A p.Glu288Glu synonymous ACTL7A 1 82890 1.20642E-5 41445 0 NA
9-111625467-G-C p.Glu289Gln missense ACTL7A 5 82860 6.03427E-5 41430 0 5.03525E-4
9-111625468-A-G p.Glu289Gly missense ACTL7A 2 82844 2.41418E-5 41422 0 3.18654E-5
9-111625470-A-G p.Lys290Glu missense ACTL7A 2 82828 2.41464E-5 41414 0 NA
9-111625479-C-T p.Pro293Ser missense ACTL7A 1 82728 1.20878E-5 41364 0 1.64962E-5
9-111625482-C-A p.Leu294Ile missense ACTL7A 1 82694 1.20928E-5 41347 0 NA
9-111625495-C-T p.Thr298Met missense ACTL7A 2 82508 2.42401E-5 41254 0 2.78523E-5
9-111625496-G-A p.Thr298Thr synonymous ACTL7A 1 82506 1.21203E-5 41253 0 6.25E-4
9-111625501-G-A p.Arg300His missense ACTL7A 3 82466 3.63786E-5 41233 0 6.25E-4
9-111625502-C-T p.Arg300Arg synonymous ACTL7A 1 82484 1.21236E-5 41242 0 NA
9-111625503-T-C p.Tyr301His missense ACTL7A 1 82482 1.21239E-5 41241 0 NA
9-111625505-C-T p.Tyr301Tyr synonymous ACTL7A 44 82472 5.33514E-4 41236 0 0.00136986
9-111625513-C-T p.Pro304Leu missense ACTL7A 1 82446 1.21292E-5 41223 0 NA
9-111625514-G-A p.Pro304Pro synonymous ACTL7A 2 82474 2.42501E-5 41237 0 1.59136E-5
9-111625515-G-T p.Asp305Tyr missense ACTL7A 1 82452 1.21283E-5 41226 0 NA
9-111625516-A-T p.Asp305Val missense ACTL7A 1 82442 1.21297E-5 41221 0 NA
9-111625546-GGTT-G p.Phe316del disruptive_inframe_deletion ACTL7A 2 82658 2.41961E-5 41329 0 NA
9-111625549-T-G p.Phe316Cys missense ACTL7A 1 82664 1.20972E-5 41332 0 3.18613E-5
9-111625549-T-TAACC p.Phe316fs frameshift ACTL7A 2 82670 2.41926E-5 41335 0 NA
9-111625550-C-T p.Phe316Phe synonymous ACTL7A 8 82712 9.67212E-5 41356 0 1.27429E-4
9-111625557-T-G p.Ser319Ala missense ACTL7A 1 82746 1.20852E-5 41373 0 3.18634E-5
9-111625558-C-T p.Ser319Leu missense ACTL7A 2 82770 2.41633E-5 41385 0 8.24606E-6
9-111625559-G-A p.Ser319Ser synonymous ACTL7A 62 82810 7.48702E-4 41405 0 7.39786E-4
9-111625559-G-C p.Ser319Ser synonymous ACTL7A 1 82812 1.20755E-5 41406 0 3.97735E-6
9-111625563-A-T p.Met321Leu missense ACTL7A 4 82910 4.82451E-5 41455 0 6.37511E-5
9-111625565-GTTC-G p.Phe323del conservative_inframe_deletion ACTL7A 3 82942 3.61699E-5 41471 0 3.18776E-5
9-111625577-A-G p.Pro325Pro synonymous ACTL7A 2 83068 2.40767E-5 41534 0 NA
9-111625584-A-C p.Ile328Leu missense ACTL7A 1 83114 1.20317E-5 41557 0 NA
9-111625602-G-A p.Gly334Ser missense ACTL7A 1 83176 1.20227E-5 41588 0 3.97681E-6
9-111625605-C-T p.Leu335Phe missense ACTL7A 1 83182 1.20218E-5 41591 0 NA
9-111625607-C-T p.Leu335Leu synonymous ACTL7A 2 83202 2.40379E-5 41601 0 NA
9-111625612-C-A p.Thr337Asn missense ACTL7A 11 83210 1.32196E-4 41605 0 NA
9-111625619-C-T p.Thr339Thr synonymous ACTL7A 2 83214 2.40344E-5 41607 0 8.24035E-6
9-111625620-G-A p.Val340Met missense ACTL7A 2103 83158 0.0252892 41579 80 0.0470135
9-111625621-T-C p.Val340Ala missense ACTL7A 1 83198 1.20195E-5 41599 0 3.2962E-5
9-111625622-G-C p.Val340Val synonymous ACTL7A 1 83206 1.20184E-5 41603 0 NA
9-111625629-C-G p.Leu343Val missense ACTL7A 2587 83146 0.0311139 41573 41 0.0574018
9-111625647-G-A p.Ala349Thr missense ACTL7A 1 83162 1.20247E-5 41581 0 3.18492E-5
9-111625656-C-T p.Arg352Trp missense ACTL7A 2 83174 2.4046E-5 41587 0 1.1933E-5
9-111625657-G-A p.Arg352Gln missense ACTL7A 1 83162 1.20247E-5 41581 0 1.64826E-5
9-111625665-A-G p.Met355Val missense ACTL7A 2 83166 2.40483E-5 41583 0 NA
9-111625666-T-G p.Met355Arg missense ACTL7A 1 83168 1.20239E-5 41584 0 NA
9-111625667-G-A p.Met355Ile missense ACTL7A 1 83168 1.20239E-5 41584 0 5.76929E-5
9-111625673-C-CA p.Ile358fs frameshift ACTL7A 2 83176 2.40454E-5 41588 0 4.12133E-5
9-111625676-C-A p.Ile358Ile synonymous ACTL7A 2 83174 2.4046E-5 41587 0 3.97798E-6
9-111625682-C-G p.Leu360Leu synonymous ACTL7A 2 83174 2.4046E-5 41587 0 NA
9-111625685-C-CG p.Ser364fs frameshift ACTL7A 17 83146 2.0446E-4 41573 0 5.03525E-4
9-111625685-C-T p.Cys361Cys synonymous ACTL7A 4 83146 4.81081E-5 41573 0 5.57209E-5
9-111625686-G-A p.Gly362Arg missense ACTL7A 1 83160 1.2025E-5 41580 0 3.18552E-5
9-111625697-G-A p.Thr365Thr synonymous ACTL7A 35 83172 4.20815E-4 41586 0 8.28025E-4
9-111625699-T-C p.Met366Thr missense ACTL7A 1 83196 1.20198E-5 41598 0 0.0025
9-111625705-G-T p.Ser368Ile missense ACTL7A 2 83182 2.40437E-5 41591 0 NA
9-111625719-C-T p.Arg373Cys missense ACTL7A 1 83154 1.20259E-5 41577 0 3.29804E-5
9-111625720-G-A p.Arg373His missense ACTL7A 1 83152 1.20262E-5 41576 0 4.94674E-5
9-111625736-A-G p.Leu378Leu synonymous ACTL7A 1 83148 1.20267E-5 41574 0 8.24498E-6
9-111625742-C-T p.Ser380Ser synonymous ACTL7A 37 83156 4.44947E-4 41578 0 0.00130565
9-111625745-G-T p.Met381Ile missense ACTL7A 2 83142 2.40552E-5 41571 0 NA
9-111625748-T-C p.Cys382Cys synonymous ACTL7A 1 83144 1.20273E-5 41572 0 NA
9-111625749-C-T p.Pro383Ser missense ACTL7A 10 83150 1.20265E-4 41575 0 1.27413E-4
9-111625762-C-T p.Pro387Leu missense ACTL7A 16 83118 1.92497E-4 41559 1 6.05096E-4
9-111625763-G-A p.Pro387Pro synonymous ACTL7A 24 83132 2.88697E-4 41566 0 3.18431E-4
9-111625769-A-T p.Val389Val synonymous ACTL7A 1 83136 1.20285E-5 41568 0 NA
9-111625773-G-C p.Val391Leu missense ACTL7A 12 83092 1.44418E-4 41546 0 1.91058E-4
9-111625778-G-C p.Leu392Leu synonymous ACTL7A 1 83072 1.20378E-5 41536 0 3.1841E-5
9-111625785-A-G p.Arg395Gly missense ACTL7A 1 83046 1.20415E-5 41523 0 3.97798E-6
9-111625796-C-T p.Ala398Ala synonymous ACTL7A 2 82978 2.41028E-5 41489 0 1.64987E-5
9-111625797-G-C p.Val399Leu missense ACTL7A 1 82974 1.2052E-5 41487 0 NA
9-111625805-C-T p.Thr401Thr synonymous ACTL7A 4 82904 4.82486E-5 41452 0 1.65019E-5
9-111625809-G-A p.Gly403Ser missense ACTL7A 17 82846 2.052E-4 41423 0 7.42685E-5
9-111625815-A-C p.Ile405Leu missense ACTL7A 1 82814 1.20753E-5 41407 0 3.18492E-5
9-111625830-C-A p.Gln410Lys missense ACTL7A 1 82672 1.2096E-5 41336 0 3.98172E-6
9-111625853-C-T p.Val417Val synonymous ACTL7A 1 82432 1.21312E-5 41216 0 NA
9-111625857-C-T p.Arg419Cys missense ACTL7A 3 82404 3.6406E-5 41202 0 3.18431E-5
9-111625858-G-A p.Arg419His missense ACTL7A 1 82390 1.21374E-5 41195 0 7.97677E-6
9-111625863-G-A p.Glu421Lys missense ACTL7A 1 82380 1.21389E-5 41190 0 NA
9-111625868-C-T p.Tyr422Tyr synonymous ACTL7A 4 82282 4.86133E-5 41141 0 6.36902E-5
9-111625869-G-A p.Glu423Lys missense ACTL7A 2 82238 2.43197E-5 41119 0 3.18451E-5
9-111625877-C-T p.His425His synonymous ACTL7A 8 82076 9.74706E-5 41038 0 9.62148E-5
9-111625896-A-G p.Arg432Gly missense ACTL7A 1 81712 1.22381E-5 40856 0 3.18532E-5