Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-74526950-A-G n.2221T>C splice_region ALDH6A1 1 4306 2.32234E-4 2153 0 NA
14-74527349-C-T p.Arg522His missense ALDH6A1 78 83078 9.38877E-4 41539 0 0.00246646
14-74527350-G-A p.Arg522Cys missense ALDH6A1 1 83070 1.2038E-5 41535 0 3.18634E-5
14-74527351-G-A p.Gly521Gly synonymous ALDH6A1 1 83098 1.2034E-5 41549 0 7.95589E-6
14-74527363-C-T p.Met517Ile missense ALDH6A1 1 83148 1.20267E-5 41574 0 1.19345E-5
14-74527377-G-A p.Pro513Ser missense ALDH6A1 2 83194 2.40402E-5 41597 1 NA
14-74527382-G-A p.Ser511Phe missense ALDH6A1 1 83224 1.20158E-5 41612 0 NA
14-74527387-A-C p.Thr509Thr synonymous ALDH6A1 1 83212 1.20175E-5 41606 0 NA
14-74527393-ATCT-A p.Glu506del disruptive_inframe_deletion ALDH6A1 45 83190 5.4093E-4 41595 0 0.00100806
14-74527396-T-C p.Glu506Glu synonymous ALDH6A1 2 83182 2.40437E-5 41591 0 NA
14-74527398-C-T p.Glu506Lys missense ALDH6A1 1 83192 1.20204E-5 41596 0 3.97937E-6
14-74527433-G-C p.Thr494Ser missense ALDH6A1 3 83052 3.61219E-5 41526 0 3.18552E-5
14-74527447-G-A p.Gly489Gly splice_region+synonymous ALDH6A1 3 82954 3.61646E-5 41477 0 8.24103E-6
14-74527451-T-TGTTTGCCATAGAAATTGGTGTCTCCCCTG c.1465-3_1465-2insCAGGGGAGACACCAATTTCTATGGCAAAC splice_region ALDH6A1 1 82930 1.20584E-5 41465 0 NA
14-74531519-A-C c.1464+6T>G splice_region ALDH6A1 1 82780 1.20802E-5 41390 0 1.66055E-5
14-74531532-C-G p.Gly486Ala missense ALDH6A1 1 82716 1.20896E-5 41358 0 NA
14-74531550-C-A p.Gly480Val missense ALDH6A1 1 82704 1.20913E-5 41352 0 3.18593E-5
14-74531554-T-A p.Arg479Trp missense ALDH6A1 1 82718 1.20893E-5 41359 0 8.30537E-6
14-74531563-A-T p.Ser476Thr missense ALDH6A1 2 82720 2.41779E-5 41360 0 NA
14-74531565-C-G p.Arg475Pro missense ALDH6A1 5 82700 6.04595E-5 41350 0 3.18573E-5
14-74531572-C-T p.Gly473Ser missense ALDH6A1 12 82692 1.45117E-4 41346 0 1.27689E-4
14-74531573-G-A p.Thr472Thr synonymous ALDH6A1 158 82686 0.00191084 41343 1 0.0035687
14-74531583-A-G p.Phe469Ser missense ALDH6A1 1 82694 1.20928E-5 41347 0 NA
14-74531585-C-T p.Met468Ile missense ALDH6A1 8 82710 9.67235E-5 41355 0 1.19715E-5
14-74531588-T-G p.Pro467Pro synonymous ALDH6A1 3 82714 3.62696E-5 41357 0 3.18715E-5
14-74531589-G-A p.Pro467Leu missense ALDH6A1 1 82714 1.20899E-5 41357 0 8.38363E-6
14-74531599-C-A p.Val464Leu missense ALDH6A1 2 82708 2.41815E-5 41354 0 3.99463E-6
14-74531629-A-G c.1366-6T>C splice_region ALDH6A1 2 82616 2.42084E-5 41308 0 3.18492E-5
14-74531879-C-T c.1365+5G>A splice_region ALDH6A1 1 82858 1.20688E-5 41429 0 3.9881E-6
14-74531880-G-A c.1365+4C>T splice_region ALDH6A1 1 82872 1.20668E-5 41436 0 8.26037E-6
14-74531888-C-T p.Gly454Glu missense ALDH6A1 1 82982 1.20508E-5 41491 0 8.25382E-6
14-74531891-A-G p.Val453Ala missense ALDH6A1 2 83012 2.40929E-5 41506 0 8.25205E-6
14-74531907-C-T p.Ala448Thr missense ALDH6A1 1 83034 1.20433E-5 41517 0 2.79307E-5
14-74531908-A-C p.Tyr447* stop_gained ALDH6A1 1 83042 1.20421E-5 41521 0 3.98937E-6
14-74531920-A-G p.Thr443Thr synonymous ALDH6A1 4 83028 4.81765E-5 41514 0 7.42048E-5
14-74531936-G-T p.Thr438Asn missense ALDH6A1 1 82986 1.20502E-5 41493 0 NA
14-74531938-G-A p.Phe437Phe synonymous ALDH6A1 1 82988 1.20499E-5 41494 0 3.1841E-5
14-74531964-GGTT-G p.Asn428del conservative_inframe_deletion ALDH6A1 1 82892 1.20639E-5 41446 0 NA
14-74531967-T-A p.Asn428Tyr missense ALDH6A1 1 82868 1.20674E-5 41434 0 NA
14-74531982-G-A p.Gln423* stop_gained ALDH6A1 1 82764 1.20825E-5 41382 0 4.00288E-6
14-74531997-A-G p.Leu418Leu synonymous ALDH6A1 4 82802 4.8308E-5 41401 0 8.24606E-6
14-74531999-G-T p.Thr417Lys missense ALDH6A1 2 82790 2.41575E-5 41395 0 NA
14-74532010-C-T p.Leu413Leu synonymous ALDH6A1 1 82812 1.20755E-5 41406 0 3.99763E-6
14-74532011-A-G p.Leu413Pro missense ALDH6A1 1 82824 1.20738E-5 41412 0 NA
14-74532042-C-T p.Glu403Lys missense ALDH6A1 2 82966 2.41063E-5 41483 0 1.19694E-5
14-74532043-TTTGTAACAGGTCATA-T p.Asn397_Tyr401del disruptive_inframe_deletion ALDH6A1 2 82956 2.41092E-5 41478 0 NA
14-74532045-T-C p.Lys402Glu missense ALDH6A1 1 82960 1.2054E-5 41480 0 NA
14-74533400-T-C c.1185+8A>G splice_region ALDH6A1 2 82606 2.42113E-5 41303 0 NA
14-74533408-C-A p.Lys395Asn missense+splice_region ALDH6A1 1 82726 1.20881E-5 41363 0 NA
14-74533416-T-C p.Asn393Asp missense ALDH6A1 3 82784 3.62389E-5 41392 1 3.98105E-6
14-74533458-C-T p.Gly379Ser missense ALDH6A1 1 83086 1.20357E-5 41543 0 NA
14-74533476-G-T p.Arg373Arg synonymous ALDH6A1 2 83132 2.40581E-5 41566 0 NA
14-74533476-G-A p.Arg373* stop_gained ALDH6A1 1 83132 1.20291E-5 41566 0 7.41412E-5
14-74533477-T-G p.Gly372Gly synonymous ALDH6A1 1 83138 1.20282E-5 41569 0 NA
14-74533481-T-A p.Asp371Val missense ALDH6A1 1 83132 1.20291E-5 41566 0 8.23778E-6
14-74533493-G-A p.Ser367Phe missense ALDH6A1 3 83136 3.60855E-5 41568 0 8.23791E-6
14-74533501-C-T p.Glu364Glu synonymous ALDH6A1 1 83144 1.20273E-5 41572 0 3.18532E-5
14-74533520-A-G p.Ile358Thr missense ALDH6A1 1 83114 1.20317E-5 41557 0 7.95798E-6
14-74533535-C-T p.Arg353Gln missense ALDH6A1 2 83066 2.40772E-5 41533 0 NA
14-74533539-C-T p.Glu352Lys missense ALDH6A1 1 83070 1.2038E-5 41535 0 3.18492E-5
14-74533575-C-T p.Ala340Thr missense ALDH6A1 2 82834 2.41447E-5 41417 0 4.12964E-5
14-74534094-C-G p.Arg331Thr missense ALDH6A1 1 80534 1.24171E-5 40267 0 4.01394E-6
14-74534099-GT-G p.Asn329fs frameshift ALDH6A1 1 80644 1.24002E-5 40322 0 4.01329E-6
14-74534112-T-G p.Glu325Ala missense ALDH6A1 6 80918 7.41491E-5 40459 0 4.4114E-5
14-74534118-A-T p.Leu323Gln missense ALDH6A1 1 81098 1.23308E-5 40549 0 NA
14-74534124-G-A p.Pro321Leu missense ALDH6A1 1 81224 1.23116E-5 40612 0 8.25001E-6
14-74534128-G-A p.Leu320Leu synonymous ALDH6A1 1 81258 1.23065E-5 40629 0 NA
14-74534132-C-T p.Lys318Lys synonymous ALDH6A1 4 81366 4.91606E-5 40683 0 1.27429E-4
14-74534142-T-C p.Glu315Gly missense ALDH6A1 2 81544 2.45266E-5 40772 0 5.03525E-4
14-74534173-T-C p.Met305Val missense ALDH6A1 1 81980 1.21981E-5 40990 0 NA
14-74534178-C-T p.Arg303His missense ALDH6A1 3 81880 3.6639E-5 40940 0 2.47145E-5
14-74534179-G-A p.Arg303Cys missense ALDH6A1 1 81888 1.22118E-5 40944 0 3.59276E-5
14-74534183-A-T p.Gly301Gly synonymous ALDH6A1 3 81902 3.66291E-5 40951 0 4.39122E-5
14-74534185-C-T p.Gly301Ser missense ALDH6A1 1 81938 1.22043E-5 40969 0 NA
14-74534186-A-G p.Ala300Ala synonymous ALDH6A1 4 81932 4.8821E-5 40966 0 1.5967E-5
14-74534188-CA-C p.Ala300fs frameshift ALDH6A1 1 81888 1.22118E-5 40944 0 1.64764E-5
14-74534193-C-T p.Gly298Glu missense ALDH6A1 1 81908 1.22088E-5 40954 0 NA
14-74534204-C-T p.Gly294Gly synonymous ALDH6A1 5 81878 6.10665E-5 40939 0 3.99173E-6
14-74534206-C-T p.Gly294Arg missense ALDH6A1 3 81892 3.66336E-5 40946 0 5.18871E-5
14-74534210-C-T p.Leu292Leu synonymous ALDH6A1 1 81870 1.22145E-5 40935 0 NA
14-74534217-T-C p.Asn290Ser missense ALDH6A1 4 81844 4.88735E-5 40922 0 6.59E-5
14-74534221-G-C p.Leu289Val missense ALDH6A1 1 81824 1.22214E-5 40912 0 NA
14-74534242-C-T p.Asp282Asn missense ALDH6A1 2 81494 2.45417E-5 40747 0 4.11868E-5
14-74534247-A-C p.Met280Arg missense ALDH6A1 3 81422 3.68451E-5 40711 0 3.60182E-5
14-74534247-A-ATGAC p.Met280fs frameshift ALDH6A1 1 81422 1.22817E-5 40711 0 8.2375E-6
14-74534257-C-T p.Gly277Arg missense ALDH6A1 1 81240 1.23092E-5 40620 0 NA
14-74534260-G-A p.His276Tyr missense ALDH6A1 1 81176 1.23189E-5 40588 0 NA
14-74534273-C-CATATTGGCTTGAACCCTCTTGCCATGTCTTGATCCTCTCTCGAAGA c.814-2_814-1insTCTTCGAGAGAGGATCAAGACATGGCAAGAGGGTTCAAGCCAATAT splice_acceptor ALDH6A1 1 80984 1.23481E-5 40492 0 NA
14-74534274-T-TA c.814-3_814-2insT splice_region ALDH6A1 425 80766 0.00526212 40383 6 0.0111023
14-74534274-TA-T c.814-3delT splice_region ALDH6A1 1 80868 1.23658E-5 40434 0 0.0019855
14-74535556-A-G c.813+7T>C splice_region ALDH6A1 80 83292 9.60476E-4 41646 0 0.00130163
14-74535591-C-G p.Arg262Thr missense ALDH6A1 1 83344 1.19985E-5 41672 0 NA
14-74535601-T-C p.Arg259Gly missense ALDH6A1 2 83352 2.39946E-5 41676 0 7.95463E-6
14-74535604-C-T p.Glu258Lys missense ALDH6A1 2 83340 2.39981E-5 41670 0 5.76682E-5
14-74535604-C-G p.Glu258Gln missense ALDH6A1 2 83340 2.39981E-5 41670 0 8.23832E-6
14-74535612-T-C p.Tyr255Cys missense ALDH6A1 1 83342 1.19988E-5 41671 0 6.37959E-5
14-74535613-A-G p.Tyr255His missense ALDH6A1 3 83344 3.59954E-5 41672 0 8.23886E-6
14-74535614-C-A p.Glu254Asp missense ALDH6A1 1 83342 1.19988E-5 41671 0 NA
14-74535614-C-T p.Glu254Glu synonymous ALDH6A1 2 83342 2.39975E-5 41671 0 NA
14-74535616-C-T p.Glu254Lys missense ALDH6A1 1 83346 1.19982E-5 41673 0 6.25E-4
14-74535627-T-C p.Asn250Ser missense ALDH6A1 1 83350 1.19976E-5 41675 0 3.97728E-6
14-74535637-C-G p.Val247Leu missense ALDH6A1 4 83346 4.79927E-5 41673 0 4.12106E-5
14-74535653-G-A p.Ile241Ile synonymous ALDH6A1 1 83356 1.19967E-5 41678 0 NA
14-74535659-C-T p.Pro239Pro synonymous ALDH6A1 4 83360 4.79846E-5 41680 0 0.00100705
14-74535660-G-A p.Pro239Leu missense ALDH6A1 375 83350 0.0044991 41675 1 0.006875
14-74535664-G-T p.His238Asn missense ALDH6A1 2 83358 2.39929E-5 41679 0 NA
14-74535667-C-T p.Asp237Asn missense ALDH6A1 3 83354 3.59911E-5 41677 0 3.97871E-6
14-74535668-G-A p.Cys236Cys synonymous ALDH6A1 2 83366 2.39906E-5 41683 0 5.03525E-4
14-74535677-A-G p.Asn233Asn synonymous ALDH6A1 3 83346 3.59945E-5 41673 0 3.97858E-6
14-74535682-C-T p.Val232Ile missense+splice_region ALDH6A1 16 83356 1.91948E-4 41678 0 3.19061E-4
14-74535687-T-TCATGCTGTCCATGGATGATG c.692-4_692-3insCATCATCCATGGACAGCATG splice_region ALDH6A1 1 83338 1.19993E-5 41669 0 NA
14-74535831-G-A c.-266C>T 5_prime_UTR_premature_start_codon_gain ALDH6A1 2 62094 3.22092E-5 31047 0 NA
14-74537923-T-C p.Leu222Leu synonymous ALDH6A1 2 82646 2.41996E-5 41323 0 NA
14-74537927-G-A p.Thr221Ile missense ALDH6A1 1 82710 1.20904E-5 41355 0 NA
14-74537938-G-T p.Ala217Ala synonymous ALDH6A1 3 82816 3.62249E-5 41408 0 2.47272E-5
14-74537953-G-A p.Leu212Leu synonymous ALDH6A1 2 82660 2.41955E-5 41330 0 NA
14-74537982-C-T p.Gly203Arg missense ALDH6A1 2 83066 2.40772E-5 41533 0 2.47308E-5
14-74537992-C-T p.Glu199Glu synonymous ALDH6A1 617 83134 0.00742175 41567 16 0.0130631
14-74538008-A-G p.Leu194Pro missense ALDH6A1 1 83240 1.20135E-5 41620 0 NA
14-74538030-T-C p.Met187Val missense ALDH6A1 1 83306 1.20039E-5 41653 0 1.64766E-5
14-74538031-G-A p.Ala186Ala synonymous ALDH6A1 1 83316 1.20025E-5 41658 0 3.97738E-6
14-74538035-A-G p.Met185Thr missense ALDH6A1 1 83314 1.20028E-5 41657 0 1.64761E-5
14-74538037-G-A p.Pro184Pro synonymous ALDH6A1 1 83326 1.20011E-5 41663 0 8.23805E-6
14-74538055-G-A p.Ile178Ile synonymous ALDH6A1 1 83350 1.19976E-5 41675 0 NA
14-74538058-C-G p.Met177Ile missense ALDH6A1 1 83348 1.19979E-5 41674 0 3.18573E-5
14-74538089-G-A p.Ala167Val missense ALDH6A1 5 83354 5.99851E-5 41677 0 NA
14-74538095-A-G p.Val165Ala missense ALDH6A1 1 83358 1.19964E-5 41679 0 NA
14-74538099-C-G p.Gly164Arg missense ALDH6A1 1 83358 1.19964E-5 41679 0 NA
14-74538104-G-A p.Pro162Leu missense ALDH6A1 1 83360 1.19962E-5 41680 0 NA
14-74538106-C-G p.Leu161Leu synonymous ALDH6A1 2 83360 2.39923E-5 41680 0 NA
14-74538110-C-T p.Arg160His missense ALDH6A1 1 83360 1.19962E-5 41680 0 3.18613E-5
14-74538114-A-G p.Tyr159His missense ALDH6A1 3 83354 3.59911E-5 41677 0 NA
14-74538119-T-A p.Tyr157Phe missense ALDH6A1 1 83370 1.19947E-5 41685 0 NA
14-74538139-G-A p.Ile150Ile synonymous ALDH6A1 1 83372 1.19944E-5 41686 0 8.23737E-6
14-74538151-G-T p.Thr146Thr synonymous ALDH6A1 3 83354 3.59911E-5 41677 0 3.29489E-5
14-74538168-G-A p.Leu141Phe missense ALDH6A1 1 83302 1.20045E-5 41651 0 NA
14-74538196-C-T p.Val131Val synonymous ALDH6A1 3 83146 3.60811E-5 41573 0 0.00136995
14-74538198-C-T p.Val131Met missense+splice_region ALDH6A1 2 83138 2.40564E-5 41569 0 NA
14-74538370-G-T n.483-7C>A splice_region ALDH6A1 615 75730 0.00812096 37865 22 0.015615
14-74538598-C-T c.388+1G>A splice_donor ALDH6A1 3 83342 3.59963E-5 41671 0 2.38595E-5
14-74538607-C-T p.Arg127Gln missense ALDH6A1 3 83346 3.59945E-5 41673 0 1.98831E-5
14-74538612-T-C p.Val125Val synonymous ALDH6A1 563 83340 0.00675546 41670 3 0.0225
14-74538616-T-G p.Asp124Ala missense ALDH6A1 1 83352 1.19973E-5 41676 0 8.23655E-6
14-74538635-G-A p.Leu118Leu synonymous ALDH6A1 1 83348 1.19979E-5 41674 0 NA
14-74538637-G-T p.Thr117Asn missense ALDH6A1 1 83342 1.19988E-5 41671 0 3.977E-6
14-74538647-G-A p.Gln114* stop_gained ALDH6A1 1 83328 1.20008E-5 41664 0 NA
14-74538653-A-G p.Leu112Leu synonymous ALDH6A1 1 83320 1.20019E-5 41660 0 NA
14-74538671-T-C p.Ile106Val missense ALDH6A1 1 83292 1.2006E-5 41646 0 NA
14-74538922-AGTT-A p.Gln110del disruptive_inframe_deletion ALDH6A1 1 83090 1.20351E-5 41545 0 3.9814E-6
14-74538931-T-C p.Tyr108Cys missense ALDH6A1 1 83100 1.20337E-5 41550 0 8.25641E-6
14-74538934-C-T p.Arg107His missense ALDH6A1 1 83086 1.20357E-5 41543 0 6.36943E-5
14-74538936-G-T p.Leu106Leu synonymous ALDH6A1 1 83104 1.20331E-5 41552 0 NA
14-74538952-C-T p.Arg101His missense ALDH6A1 2 83098 2.4068E-5 41549 0 1.19416E-5
14-74538991-C-T p.Arg88His missense ALDH6A1 3 83042 3.61263E-5 41521 0 1.99029E-5
14-74538992-G-A p.Arg88Cys missense ALDH6A1 7 83048 8.42886E-5 41524 0 1.59215E-4
14-74538998-A-T p.Cys86Ser missense ALDH6A1 1 83060 1.20395E-5 41530 0 NA
14-74539000-G-A p.Ser85Phe missense ALDH6A1 2 83062 2.40784E-5 41531 0 8.24633E-6
14-74539006-A-G p.Ile83Thr missense ALDH6A1 1 83062 1.20392E-5 41531 0 NA
14-74539016-C-CT p.Asp80fs frameshift ALDH6A1 1 83030 1.20438E-5 41515 0 NA
14-74539017-C-CCTCCAGTCTT p.Met79fs frameshift ALDH6A1 1 83034 1.20433E-5 41517 0 NA
14-74539019-T-C p.Met79Val missense ALDH6A1 2 83038 2.40854E-5 41519 0 1.19415E-5
14-74539021-T-C p.Glu78Gly missense ALDH6A1 1 83020 1.20453E-5 41510 0 1.6488E-5
14-74539044-C-A p.Arg70Arg synonymous ALDH6A1 1 82984 1.20505E-5 41492 0 NA
14-74539046-G-A p.Arg70Trp missense ALDH6A1 2 82990 2.40993E-5 41495 0 1.64894E-5
14-74539060-T-C p.Asn65Ser missense ALDH6A1 78 83026 9.39465E-4 41513 0 0.00117891
14-74539067-C-CTGGGTTGTGGATATCGATCCATTTGTCACTTTTGGATTCAA c.187-1_187insTTGAATCCAAAAGTGACAAATGGATCGATATCCACAACCCA splice_acceptor ALDH6A1 8 83018 9.63646E-5 41509 4 NA
14-74539233-C-T c.186+7G>A splice_region ALDH6A1 44 83098 5.29495E-4 41549 1 0.00133826
14-74539234-G-A c.186+6C>T splice_region ALDH6A1 6 83072 7.22265E-5 41536 0 1.5666E-4
14-74539236-T-C c.186+4A>G splice_region ALDH6A1 1 83062 1.20392E-5 41531 0 3.97912E-6
14-74539254-C-T p.Asp58Asn missense ALDH6A1 3 82846 3.62118E-5 41423 0 8.25941E-6
14-74539255-G-A p.Ile57Ile synonymous ALDH6A1 6 82800 7.24638E-5 41400 0 5.57569E-5
14-74539261-T-C p.Lys55Lys synonymous ALDH6A1 5 82700 6.04595E-5 41350 0 1.65333E-5
14-74539275-A-G p.Ser51Pro missense ALDH6A1 19 82336 2.30762E-4 41168 0 5.03525E-4
14-74539280-A-G p.Val49Ala missense ALDH6A1 1 82164 1.21708E-5 41082 0 3.18715E-5
14-74539281-C-T p.Val49Ile missense ALDH6A1 25 82066 3.04633E-4 41033 0 8.61629E-4
14-74539293-C-G p.Gly45Arg missense ALDH6A1 1 81444 1.22784E-5 40722 0 1.65703E-5
14-74539296-T-A p.Ile44Phe missense ALDH6A1 2 81258 2.4613E-5 40629 0 NA
14-74539299-A-G p.Phe43Leu missense ALDH6A1 2 81014 2.46871E-5 40507 0 NA
14-74539315-C-CACTGAAGAAGAGAAGGAAGATGCTGAATACCAGG c.112-2_112-1insCCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGT splice_acceptor ALDH6A1 4 79146 5.05395E-5 39573 2 NA
14-74539317-G-GA c.112-4_112-3insT splice_region ALDH6A1 23 78710 2.92212E-4 39355 0 0.00181709
14-74539317-G-GAAAA c.112-4_112-3insTTTT splice_region ALDH6A1 54 78838 6.84949E-4 39419 0 0.00131996
14-74539317-G-A c.112-3C>T splice_region ALDH6A1 1 78902 1.26739E-5 39451 0 2.57136E-5
14-74539317-G-GAAAAA c.112-4_112-3insTTTTT splice_region ALDH6A1 1 78902 1.26739E-5 39451 0 NA
14-74539321-AAAAC-A c.112-11_112-8delGTTT splice_region ALDH6A1 2197 78390 0.0280265 39195 101 0.0404626
14-74539321-A-AAAAC c.112-8_112-7insGTTT splice_region ALDH6A1 363 78558 0.00462079 39279 2 0.00906644
14-74539321-A-C c.112-7T>G splice_region ALDH6A1 26 78564 3.3094E-4 39282 0 6.25E-4
14-74539321-AAAACAAAC-A c.112-15_112-8delGTTTGTTT splice_region ALDH6A1 4 78568 5.09113E-5 39284 0 6.40738E-5
14-74541656-A-G c.111+2T>C splice_donor ALDH6A1 2 83264 2.402E-5 41632 0 8.26966E-6
14-74541660-C-T p.Val37Met missense+splice_region ALDH6A1 2 83284 2.40142E-5 41642 0 8.26747E-6
14-74541672-A-T p.Phe33Ile missense ALDH6A1 9 83300 1.08043E-4 41650 0 0.00125
14-74541677-G-T p.Ser31Tyr missense ALDH6A1 1 83294 1.20057E-5 41647 0 NA
14-74541699-T-C p.Ser24Gly missense ALDH6A1 2 83296 2.40108E-5 41648 0 NA
14-74541710-T-G p.Lys20Thr missense ALDH6A1 2 83282 2.40148E-5 41641 0 NA
14-74541712-G-A p.Ser19Ser synonymous ALDH6A1 3 83282 3.60222E-5 41641 0 NA
14-74541716-G-A p.Ser18Phe missense ALDH6A1 8 83272 9.60707E-5 41636 0 6.37146E-5
14-74541723-G-GCAGGATCCGGGCTCGCACTGCCGCCGCCGCCAATAGCGCCGCCA c.49-4_49-3insTGGCGGCGCTATTGGCGGCGGCGGCAGTGCGAGCCCGGATCCTG splice_region ALDH6A1 2 83254 2.40229E-5 41627 1 NA
14-74551054-A-T p.Leu15Gln missense ALDH6A1 1 80412 1.2436E-5 40206 0 2.00968E-4
14-74551058-T-G p.Ile14Leu missense ALDH6A1 1 80194 1.24698E-5 40097 0 5.29225E-5
14-74551059-C-T p.Arg13Arg synonymous ALDH6A1 6 80270 7.47477E-5 40135 0 6.37105E-5
14-74551064-C-A p.Ala12Ser missense ALDH6A1 1 80038 1.24941E-5 40019 0 1.6419E-5
14-74551081-G-GCCA p.Leu5_Ala6insVal conservative_inframe_insertion ALDH6A1 9 80914 1.11229E-4 40457 0 2.23115E-4
14-74551086-T-C p.Leu4Leu synonymous ALDH6A1 2 81062 2.46725E-5 40531 0 1.77104E-5
14-74551090-G-A p.Ala3Val missense ALDH6A1 2 80962 2.47029E-5 40481 0 NA
14-74551096-A-T p.Met1? start_lost ALDH6A1 2 81042 2.46786E-5 40521 0 NA
14-74551097-T-C p.Met1? start_lost ALDH6A1 5 81018 6.17147E-5 40509 0 5.05561E-4