Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-73612898-C-T c.-99C>T 5_prime_UTR_premature_start_codon_gain ALMS1 2 31326 6.38447E-5 15663 0 NA
2-73612921-C-T c.-76C>T 5_prime_UTR_premature_start_codon_gain ALMS1 1 38998 2.56423E-5 19499 0 NA
2-73612952-C-G c.-45C>G 5_prime_UTR_premature_start_codon_gain ALMS1 1 47896 2.08786E-5 23948 0 NA
2-73612976-C-T c.-21C>T 5_prime_UTR_premature_start_codon_gain ALMS1 9 51658 1.74223E-4 25829 0 1.604E-4
2-73612997-A-C p.Met1? initiator_codon ALMS1 1 58842 1.69947E-5 29421 0 7.66178E-6
2-73613003-C-T p.Pro3Ser missense ALMS1 1 61042 1.63822E-5 30521 0 1.52623E-5
2-73613004-C-T p.Pro3Leu missense ALMS1 2 61546 3.2496E-5 30773 0 9.65375E-5
2-73613009-G-A p.Asp5Asn missense ALMS1 1 63410 1.57704E-5 31705 0 NA
2-73613012-C-T p.Leu6Leu synonymous ALMS1 1 64174 1.55826E-5 32087 0 NA
2-73613017-A-G p.Pro7Pro synonymous ALMS1 2 64616 3.09521E-5 32308 0 NA
2-73613018-TG-T p.Trp8fs frameshift ALMS1 2 65082 3.07305E-5 32541 0 NA
2-73613021-C-T p.Pro9Ser missense ALMS1 5 65892 7.58817E-5 32946 0 5.60538E-4
2-73613024-G-A p.Gly10Ser missense ALMS1 1 66628 1.50087E-5 33314 0 4.90348E-5
2-73613025-G-C p.Gly10Ala missense ALMS1 1 66596 1.50159E-5 33298 0 NA
2-73613026-C-A p.Gly10Gly synonymous ALMS1 1 66314 1.50798E-5 33157 0 NA
2-73613031-TGGA-T p.Glu25del disruptive_inframe_deletion ALMS1 2779 66184 0.041989 33092 129 0.0630713
2-73613031-TGGAGGAGGAGGAGGAGGA-T p.Glu20_Glu25del disruptive_inframe_deletion ALMS1 47 66524 7.06512E-4 33262 1 NA
2-73613031-TGGAGGAGGAGGAGGA-T p.Glu21_Glu25del disruptive_inframe_deletion ALMS1 426 66516 0.00640447 33258 3 0.012894
2-73613031-TGGAGGAGGA-T p.Glu23_Glu25del disruptive_inframe_deletion ALMS1 1350 66496 0.020302 33248 4 0.0384432
2-73613031-TGGAGGA-T p.Glu24_Glu25del disruptive_inframe_deletion ALMS1 20825 65414 0.318357 32707 3413 0.417861
2-73613031-T-TGGA p.Glu25dup disruptive_inframe_insertion ALMS1 18498 63366 0.291923 31683 1516 0.375947
2-73613031-T-TGGAGGA p.Glu24_Glu25dup disruptive_inframe_insertion ALMS1 2961 66376 0.0446095 33188 114 0.0667658
2-73613031-T-TGGAGGAGGA p.Glu23_Glu25dup disruptive_inframe_insertion ALMS1 118 66520 0.0017739 33260 0 0.00428232
2-73613031-T-TGGAGGAGGAGGAGGA p.Glu21_Glu25dup disruptive_inframe_insertion ALMS1 8 66524 1.20257E-4 33262 0 NA
2-73613031-T-TGGAGGAGGAGGA p.Glu22_Glu25dup disruptive_inframe_insertion ALMS1 43 66520 6.46422E-4 33260 0 NA
2-73613031-TGGAGGAGGAGGA-T p.Glu22_Glu25del disruptive_inframe_deletion ALMS1 62 66522 9.32022E-4 33261 2 0.00382044
2-73613031-TGGAGGAGGAGGAGGAGGAGGA-T p.Glu19_Glu25del disruptive_inframe_deletion ALMS1 6 66524 9.0193E-5 33262 0 NA
2-73613031-TGGAGGAGGAGGAGGAGGAGGAGGAGGA-T p.Glu17_Glu25del disruptive_inframe_deletion ALMS1 1 66524 1.50322E-5 33262 0 NA
2-73613031-T-TGGAGGAGGAGGAGGAGGA p.Glu20_Glu25dup disruptive_inframe_insertion ALMS1 24 66524 3.60772E-4 33262 1 NA
2-73613031-T-TGGAGGAGGAGGAGGAGGAGGAGGA p.Glu18_Glu25dup disruptive_inframe_insertion ALMS1 1 66524 1.50322E-5 33262 0 NA
2-73613031-T-TGGAGGAGGAGGAGGAGGAGGAGGAGGA p.Glu17_Glu25dup disruptive_inframe_insertion ALMS1 3 66524 4.50965E-5 33262 0 NA
2-73613041-G-GGAGGAA p.Glu16_Glu17dup disruptive_inframe_insertion ALMS1 6 70798 8.47482E-5 35399 0 3.33156E-5
2-73613043-AG-A p.Glu17fs frameshift ALMS1 20 71048 2.815E-4 35524 0 3.95309E-4
2-73613044-G-GGAGGAGGAGGAGGAGGAGGAA p.Glu17_Glu23dup disruptive_inframe_insertion ALMS1 1 71950 1.38985E-5 35975 0 8.26911E-6
2-73613046-AGGAGG-A p.Glu18fs frameshift ALMS1 20 72190 2.77047E-4 36095 0 3.93185E-4
2-73613052-AGG-A p.Glu20fs frameshift ALMS1 59 74014 7.97146E-4 37007 2 1.36988E-4
2-73613053-GGAGGAGGAGGAGGAGGAA-G p.Glu23_Glu28del disruptive_inframe_deletion ALMS1 1 74484 1.34257E-5 37242 0 NA
2-73613055-AG-A p.Glu21fs frameshift ALMS1 58 74738 7.76044E-4 37369 1 1.26828E-4
2-73613056-G-A p.Glu20Glu synonymous ALMS1 1 75146 1.33074E-5 37573 0 0.00805452
2-73613056-G-GGAGGAGGAGGAGGAGGAA p.Glu20_Glu25dup disruptive_inframe_insertion ALMS1 1 75148 1.33071E-5 37574 0 3.21564E-5
2-73613059-G-GGAGGAA p.Glu22_Glu23dup disruptive_inframe_insertion ALMS1 9 75652 1.18966E-4 37826 0 1.60226E-4
2-73613059-GGAGGAGGAGGAA-G p.Glu25_Glu28del disruptive_inframe_deletion ALMS1 2 75652 2.64368E-5 37826 0 7.25626E-6
2-73613059-G-GGAA p.Glu22dup disruptive_inframe_insertion ALMS1 1 75652 1.32184E-5 37826 0 NA
2-73613060-G-GAGA p.Glu22_Glu23insLys conservative_inframe_insertion ALMS1 3 75808 3.95737E-5 37904 0 2.12404E-4
2-73613062-G-GGAA p.Glu23dup disruptive_inframe_insertion ALMS1 1 76066 1.31465E-5 38033 0 NA
2-73613062-G-GGAGGAGGAGGAGGAA p.Glu21_Glu25dup disruptive_inframe_insertion ALMS1 1 76066 1.31465E-5 38033 0 NA
2-73613064-AGG-A p.Glu24fs frameshift ALMS1 1 76224 1.31192E-5 38112 0 3.21399E-5
2-73613065-G-GGAGGAA p.Glu26_Glu27dup disruptive_inframe_insertion ALMS1 1 76404 1.30883E-5 38202 0 NA
2-73613065-G-A p.Glu23Glu synonymous ALMS1 1 76404 1.30883E-5 38202 0 0.0298507
2-73613065-G-GGAGGAGGAA p.Glu23_Glu25dup disruptive_inframe_insertion ALMS1 1 76404 1.30883E-5 38202 0 1.56294E-5
2-73613065-GGAGGAA-G p.Glu26_Glu27del disruptive_inframe_deletion ALMS1 1 76404 1.30883E-5 38202 0 3.27054E-5
2-73613067-AG-A p.Glu25fs frameshift ALMS1 1 76522 1.30681E-5 38261 0 3.37861E-5
2-73613068-G-GGAA p.Glu26dup disruptive_inframe_insertion ALMS1 1 76696 1.30385E-5 38348 0 NA
2-73613070-A-AGG p.Glu27fs frameshift ALMS1 18 76808 2.34351E-4 38404 0 3.79097E-4
2-73613071-A-G p.Glu25Glu synonymous ALMS1 3 76846 3.90391E-5 38423 0 0.0489314
2-73613071-A-AG p.Glu26fs frameshift ALMS1 6 76852 7.80721E-5 38426 0 3.28238E-4
2-73613071-A-AGGAG p.Glu26fs frameshift ALMS1 8 76852 1.04096E-4 38426 0 2.7713E-4
2-73613071-A-AGGAC p.Glu26fs frameshift ALMS1 1 76854 1.30117E-5 38427 0 NA
2-73613071-A-AC p.Glu26fs frameshift ALMS1 1 76856 1.30113E-5 38428 0 NA
2-73613071-A-AGGAGGAC p.Glu26fs frameshift ALMS1 1 76856 1.30113E-5 38428 0 NA
2-73613078-G-A p.Glu28Lys missense ALMS1 1 77566 1.28922E-5 38783 0 NA
2-73613080-G-A p.Glu28Glu synonymous ALMS1 1 77676 1.2874E-5 38838 0 6.91257E-6
2-73613086-A-AGCG p.Ala35dup conservative_inframe_insertion ALMS1 5 77880 6.42013E-5 38940 0 1.43755E-4
2-73613086-A-AGCGGCG p.Ala34_Ala35dup conservative_inframe_insertion ALMS1 6 77878 7.70436E-5 38939 0 5.10329E-4
2-73613090-G-A p.Ala32Thr missense ALMS1 1 77996 1.28212E-5 38998 0 3.19346E-5
2-73613098-G-A p.Ala34Ala synonymous ALMS1 1 77876 1.28409E-5 38938 0 NA
2-73613104-C-A p.Asn36Lys missense ALMS1 1 77962 1.28268E-5 38981 0 5.27426E-4
2-73613105-G-C p.Val37Leu missense ALMS1 6 78034 7.68896E-5 39017 0 6.38774E-5
2-73613108-G-A p.Asp38Asn missense ALMS1 1 78156 1.27949E-5 39078 0 NA
2-73613110-C-G p.Asp38Glu missense ALMS1 1 78076 1.2808E-5 39038 0 5.21376E-4
2-73613112-A-C p.Asp39Ala missense ALMS1 2 78028 2.56318E-5 39014 0 NA
2-73613117-G-C p.Val41Leu missense ALMS1 3 78246 3.83406E-5 39123 0 1.16618E-4
2-73613122-C-CGTGGAGGAG p.Glu48_Glu49insValGluGlu disruptive_inframe_insertion ALMS1 1 78254 1.27789E-5 39127 0 6.43583E-6
2-73613127-A-T p.Glu44Val missense ALMS1 1 78320 1.27681E-5 39160 0 NA
2-73613138-G-A p.Glu48Lys missense ALMS1 2 78560 2.54582E-5 39280 0 4.72411E-5
2-73613138-G-C p.Glu48Gln missense ALMS1 6 78560 7.63747E-5 39280 0 NA
2-73613139-A-C p.Glu48Ala missense ALMS1 1 78520 1.27356E-5 39260 0 NA
2-73613141-G-A p.Glu49Lys missense ALMS1 1 78592 1.27239E-5 39296 0 6.08791E-6
2-73613145-C-T p.Ala50Val missense ALMS1 1 78382 1.2758E-5 39191 0 NA
2-73613155-G-C p.Glu53Asp missense ALMS1 1 77956 1.28277E-5 38978 0 NA
2-73613164-C-T p.Ser56Ser synonymous ALMS1 13 78120 1.66411E-4 39060 0 0.00306435
2-73613165-G-A p.Asp57Asn missense ALMS1 3 78130 3.83975E-5 39065 0 0.0018797
2-73613169-C-G p.Ser58Cys missense ALMS1 1 78276 1.27753E-5 39138 0 4.30552E-5
2-73613170-T-C p.Ser58Ser synonymous ALMS1 2 78278 2.555E-5 39139 0 NA
2-73613172-A-T p.His59Leu missense ALMS1 1 78316 1.27688E-5 39158 0 4.1855E-5
2-73613175-A-C p.Tyr60Ser missense ALMS1 1 78360 1.27616E-5 39180 0 NA
2-73613183-CA-C p.Gln63fs frameshift ALMS1 1 78576 1.27265E-5 39288 0 3.19244E-5
2-73613185-G-C p.Gln63His missense ALMS1 1 78590 1.27243E-5 39295 0 3.19061E-5
2-73613187-A-G p.His64Arg missense ALMS1 1 78654 1.27139E-5 39327 0 NA
2-73613197-T-C p.Ser67Ser synonymous ALMS1 1 78762 1.26965E-5 39381 0 2.93807E-5
2-73613200-AGAC-A p.Asp70del disruptive_inframe_deletion ALMS1 1 78838 1.26842E-5 39419 0 NA
2-73613203-C-T p.Asp69Asp synonymous ALMS1 5 78836 6.34228E-5 39418 0 1.38713E-5
2-73613203-C-CGACGAGGAG p.Asp73_Glu75dup disruptive_inframe_insertion ALMS1 1 78836 1.26846E-5 39418 0 2.81452E-5
2-73613203-CGACGAGGAG-C p.Asp73_Glu75del disruptive_inframe_deletion ALMS1 1 78836 1.26846E-5 39418 0 4.62376E-6
2-73613207-G-A p.Glu71Lys missense ALMS1 1 78852 1.2682E-5 39426 0 2.83062E-5
2-73613214-A-C p.Asp73Ala missense ALMS1 3 78888 3.80286E-5 39444 0 4.64593E-6
2-73613214-A-ACGAGGAGGC p.Glu74_Ala76dup conservative_inframe_insertion ALMS1 1 78888 1.26762E-5 39444 0 2.75573E-5
2-73613215-C-G p.Asp73Glu missense ALMS1 2 78886 2.5353E-5 39443 0 3.19163E-5
2-73613224-C-G p.Ala76Ala synonymous ALMS1 5 78898 6.3373E-5 39449 0 6.38162E-5
2-73613232-G-A p.Trp79* stop_gained ALMS1 1 78952 1.26659E-5 39476 0 NA
2-73613237-C-A p.Gln81Lys missense ALMS1 1 78882 1.26772E-5 39441 0 9.20471E-5
2-73613241-C-T p.Ala82Val missense ALMS1 6 78778 7.61634E-5 39389 0 6.25782E-4
2-73613245-C-A p.His83Gln missense ALMS1 2 78814 2.53762E-5 39407 0 1.97355E-4
2-73613246-C-T p.Pro84Ser missense ALMS1 1 78808 1.26891E-5 39404 0 NA
2-73613247-C-G p.Pro84Arg missense ALMS1 1 78818 1.26875E-5 39409 0 5.35103E-6
2-73613248-C-T p.Pro84Pro synonymous ALMS1 2 78814 2.53762E-5 39407 0 5.38161E-6
2-73613254-G-T p.Arg86Ser missense ALMS1 1 78830 1.26855E-5 39415 0 NA
2-73613261-C-T p.Pro89Ser missense ALMS1 1 78654 1.27139E-5 39327 0 NA
2-73613262-C-T p.Pro89Leu missense ALMS1 1 78668 1.27116E-5 39334 0 3.19183E-5
2-73613264-C-T p.Pro90Ser missense ALMS1 1 78622 1.27191E-5 39311 0 NA
2-73613265-C-T p.Pro90Leu missense ALMS1 1 78580 1.27259E-5 39290 0 6.15044E-6
2-73613268-T-A p.Leu91Gln missense ALMS1 1 78482 1.27418E-5 39241 0 1.86907E-5
2-73613272-G-GC p.Gln95fs frameshift ALMS1 3 78298 3.83152E-5 39149 0 NA
2-73613273-C-A p.Pro93Thr missense ALMS1 1 78366 1.27606E-5 39183 0 NA
2-73613275-C-T p.Pro93Pro synonymous ALMS1 6 78364 7.65658E-5 39182 0 6.25782E-4
2-73613276-C-T p.Pro94Ser missense ALMS1 2 78374 2.55187E-5 39187 0 1.99985E-4
2-73613277-C-T p.Pro94Leu missense ALMS1 6 78340 7.65892E-5 39170 0 0.00103093
2-73613285-C-A p.Arg97Ser missense ALMS1 1 78270 1.27763E-5 39135 0 NA
2-73613294-G-C p.Glu100Gln missense ALMS1 3 78114 3.84054E-5 39057 0 3.18817E-5
2-73613297-G-A p.Gly101Ser missense ALMS1 2 78054 2.56233E-5 39027 0 6.63834E-5
2-73613298-G-A p.Gly101Asp missense ALMS1 1 77984 1.28231E-5 38992 0 1.35472E-5
2-73613299-C-T p.Gly101Gly synonymous ALMS1 2 77934 2.56627E-5 38967 0 6.78887E-5
2-73613311-C-T p.Ser105Ser synonymous ALMS1 6 77612 7.73076E-5 38806 0 1.53704E-4
2-73613314-G-A p.Leu106Leu synonymous ALMS1 1 77544 1.28959E-5 38772 0 NA
2-73613319-A-G p.Lys108Arg missense+splice_region ALMS1 3 77370 3.87747E-5 38685 0 3.65813E-5
2-73613326-G-A c.324+6G>A splice_region ALMS1 2 76978 2.59814E-5 38489 0 NA
2-73613327-CG-C c.324+8delG splice_region ALMS1 1 76804 1.30202E-5 38402 0 NA
2-73635742-A-C c.325-8A>C splice_region ALMS1 3 83256 3.60334E-5 41628 0 NA
2-73635742-A-G c.325-8A>G splice_region ALMS1 2 83256 2.40223E-5 41628 0 2.00763E-5
2-73635758-A-G p.Pro111Pro synonymous ALMS1 1 83286 1.20068E-5 41643 0 4.01149E-6
2-73635763-C-T p.Thr113Ile missense ALMS1 1 83288 1.20065E-5 41644 0 NA
2-73635766-G-T p.Cys114Phe missense ALMS1 3 83288 3.60196E-5 41644 0 6.38733E-5
2-73635768-C-T p.His115Tyr missense ALMS1 1 83300 1.20048E-5 41650 0 2.50196E-5
2-73635770-T-C p.His115His synonymous ALMS1 1 83296 1.20054E-5 41648 0 NA
2-73635771-G-A p.Val116Ile missense ALMS1 2 83298 2.40102E-5 41649 0 NA
2-73635780-C-T p.Gln119* stop_gained ALMS1 4 83308 4.80146E-5 41654 0 2.49464E-5
2-73635781-A-G p.Gln119Arg missense ALMS1 6 83302 7.20271E-5 41651 0 9.56694E-5
2-73635784-T-TAGTA p.Tyr122fs frameshift ALMS1 1 83304 1.20042E-5 41652 0 2.00496E-5
2-73635790-A-G p.Tyr122Cys missense ALMS1 1 83320 1.20019E-5 41660 0 2.49116E-5
2-73635799-ATAG-A p.Ser126del disruptive_inframe_deletion ALMS1 4 83330 4.80019E-5 41665 0 3.19081E-5
2-73635803-T-C p.Ser126Ser synonymous ALMS1 2 83330 2.4001E-5 41665 0 4.00969E-6
2-73635812-A-G p.Gln129Gln synonymous ALMS1 1 83338 1.19993E-5 41669 0 NA
2-73635817-C-G p.Ser131Cys missense ALMS1 1 83346 1.19982E-5 41673 0 NA
2-73635820-A-C p.Asp132Ala missense ALMS1 1 83350 1.19976E-5 41675 0 NA
2-73635822-A-G p.Thr133Ala missense ALMS1 1 83354 1.1997E-5 41677 0 8.01725E-6
2-73635825-A-G p.Asn134Asp missense ALMS1 5 83358 5.99822E-5 41679 0 8.28967E-6
2-73635836-T-C p.Cys137Cys synonymous ALMS1 1 83348 1.19979E-5 41674 0 NA
2-73635852-C-T p.Gln143* stop_gained ALMS1 2 83350 2.39952E-5 41675 0 4.40977E-5
2-73635855-C-T p.Arg144Trp missense ALMS1 2 83332 2.40004E-5 41666 0 5.61293E-5
2-73635857-G-A p.Arg144Arg synonymous ALMS1 1 83348 1.19979E-5 41674 0 4.00917E-5
2-73635867-G-A p.Asp148Asn missense ALMS1 6 83330 7.20029E-5 41665 0 5.80046E-5
2-73635871-A-G p.Asp149Gly missense ALMS1 1 83314 1.20028E-5 41657 0 NA
2-73646246-T-G c.451-5T>G splice_region ALMS1 3 82772 3.62441E-5 41386 0 1.40602E-4
2-73646247-C-G c.451-4C>G splice_region ALMS1 2 82778 2.4161E-5 41389 0 3.18939E-5
2-73646260-T-A p.Ser154Thr missense ALMS1 1 82830 1.20729E-5 41415 0 6.37105E-5
2-73646265-G-C p.Trp155Cys missense ALMS1 1 82850 1.207E-5 41425 0 8.02768E-6
2-73646271-T-C p.Cys157Cys synonymous ALMS1 30 82878 3.61978E-4 41439 0 2.96986E-4
2-73646277-T-A p.Pro159Pro synonymous ALMS1 3 82870 3.62013E-5 41435 0 NA
2-73646298-A-C p.Gln166His missense ALMS1 2 82846 2.41412E-5 41423 0 NA
2-73646300-C-A p.Thr167Asn missense ALMS1 1 82842 1.20712E-5 41421 0 NA
2-73646305-G-A p.Asp169Asn missense ALMS1 1 82832 1.20726E-5 41416 0 NA
2-73646319-T-A p.Thr173Thr synonymous ALMS1 3 82804 3.62301E-5 41402 0 2.48591E-5
2-73646336-C-T p.Thr179Met missense ALMS1 3 82742 3.62573E-5 41371 0 4.14305E-5
2-73646342-A-T p.Asp181Val missense ALMS1 1 82734 1.20869E-5 41367 0 NA
2-73646344-A-G p.Thr182Ala missense ALMS1 1 82724 1.20884E-5 41362 0 4.01626E-6
2-73646345-C-A p.Thr182Asn missense ALMS1 1 82720 1.2089E-5 41360 0 NA
2-73646353-A-G p.Thr185Ala missense ALMS1 1 82728 1.20878E-5 41364 0 NA
2-73646368-C-A p.Leu190Met missense ALMS1 5 82764 6.04127E-5 41382 0 9.63817E-5
2-73646380-A-G p.Ile194Val missense ALMS1 1 82748 1.20849E-5 41374 0 NA
2-73646385-GA-G p.Thr196fs frameshift ALMS1 1 82750 1.20846E-5 41375 0 NA
2-73646387-C-T p.Thr196Met missense ALMS1 6 82758 7.25005E-5 41379 0 4.14326E-5
2-73646388-G-A p.Thr196Thr synonymous ALMS1 1 82756 1.20837E-5 41378 0 NA
2-73646391-A-G p.Gln197Gln synonymous ALMS1 3 82762 3.62485E-5 41381 0 8.2861E-6
2-73646401-C-G p.Gln201Glu missense ALMS1 24 82764 2.89981E-4 41382 0 0.00251762
2-73646408-A-G p.Lys203Arg missense ALMS1 2 82780 2.41604E-5 41390 0 NA
2-73646411-A-C p.Glu204Ala missense ALMS1 15 82756 1.81256E-4 41378 0 0.00100705
2-73646423-A-T p.Asp208Val missense ALMS1 1 82684 1.20942E-5 41342 0 NA
2-73646432-G-C p.Cys211Ser missense ALMS1 1 82612 1.21048E-5 41306 0 4.45803E-4
2-73646439-A-C p.Pro213Pro synonymous ALMS1 1 82578 1.21098E-5 41289 0 NA
2-73646454-C-G c.646+8C>G splice_region ALMS1 4 82392 4.85484E-5 41196 0 9.12863E-5
2-73649987-A-G p.Ile217Val missense+splice_region ALMS1 16 82984 1.92808E-4 41492 0 1.59246E-4
2-73649988-T-C p.Ile217Thr missense ALMS1 3 82998 3.61454E-5 41499 0 2.48509E-5
2-73649989-A-G p.Ile217Met missense ALMS1 7 82992 8.43455E-5 41496 0 9.55657E-5
2-73650008-C-T p.Pro224Ser missense ALMS1 1 83094 1.20346E-5 41547 0 NA
2-73650009-C-A p.Pro224His missense ALMS1 586 83088 0.00705276 41544 17 0.0161177
2-73650024-T-C p.Leu229Pro missense ALMS1 6 83140 7.21674E-5 41570 0 5.03525E-4
2-73650034-G-A p.Leu232Leu synonymous ALMS1 1 83136 1.20285E-5 41568 0 4.01056E-6
2-73650043-C-T p.Asp235Asp synonymous ALMS1 1 83120 1.20308E-5 41560 0 8.28308E-6
2-73650047-G-T p.Glu237* stop_gained ALMS1 2 83118 2.40622E-5 41559 0 NA
2-73650054-C-T p.Ala239Val missense ALMS1 2 83114 2.40633E-5 41557 0 4.14182E-5
2-73650055-G-A p.Ala239Ala synonymous ALMS1 1 83116 1.20314E-5 41558 0 1.65684E-5
2-73650057-C-T p.Pro240Leu missense ALMS1 1 83114 1.20317E-5 41557 0 3.18431E-5
2-73650084-T-G p.Leu249Arg missense ALMS1 1 83048 1.20412E-5 41524 0 NA
2-73650095-C-T p.Pro253Ser missense ALMS1 1 83018 1.20456E-5 41509 0 3.18552E-5
2-73650097-T-A p.Pro253Pro synonymous ALMS1 10 83028 1.20441E-4 41514 0 1.91131E-4
2-73650098-C-G p.Leu254Val missense ALMS1 8 83026 9.63554E-5 41513 0 8.28363E-6
2-73650100-G-A p.Leu254Leu splice_region+synonymous ALMS1 2 83020 2.40906E-5 41510 0 5.04032E-4
2-73651552-T-A c.765-6T>A splice_region ALMS1 4 79890 5.00688E-5 39945 0 4.59251E-6
2-73651557-G-T c.765-1G>T splice_acceptor ALMS1 1 80182 1.24716E-5 40091 0 NA
2-73651565-C-G p.Pro258Ala missense ALMS1 1 80738 1.23857E-5 40369 0 4.50086E-6
2-73651568-G-C p.Asp259His missense ALMS1 1 80920 1.23579E-5 40460 0 8.72494E-5
2-73651570-T-G p.Asp259Glu missense ALMS1 3 80960 3.70553E-5 40480 0 1.7319E-5
2-73651575-C-G p.Ser261Cys missense ALMS1 1 82110 1.21788E-5 41055 0 5.04541E-4
2-73651576-T-TGAA p.Glu262dup disruptive_inframe_insertion ALMS1 1 82166 1.21705E-5 41083 0 3.1841E-5
2-73651588-A-G p.Glu265Glu synonymous ALMS1 1 82666 1.20969E-5 41333 0 NA
2-73651598-C-T p.Arg269* stop_gained ALMS1 1 82900 1.20627E-5 41450 0 NA
2-73651605-C-T p.Ser271Leu missense ALMS1 2 83008 2.40941E-5 41504 1 7.54464E-5
2-73651613-A-C p.Ser274Arg missense ALMS1 1 83036 1.2043E-5 41518 0 3.1835E-5
2-73651614-G-A p.Ser274Asn missense ALMS1 1 83066 1.20386E-5 41533 0 3.1841E-5
2-73651615-T-C p.Ser274Ser synonymous ALMS1 9 83074 1.08337E-4 41537 0 1.91058E-4
2-73651621-T-C p.Ala276Ala synonymous ALMS1 1 83110 1.20322E-5 41555 0 1.67386E-5
2-73651628-C-G p.Gln279Glu missense ALMS1 1 83118 1.20311E-5 41559 0 NA
2-73651639-A-C p.Ala282Ala synonymous ALMS1 1 83114 1.20317E-5 41557 0 4.18032E-5
2-73651651-A-G p.Ser286Ser synonymous ALMS1 5 83078 6.01844E-5 41539 0 4.03828E-6
2-73651654-C-T p.Asp287Asp synonymous ALMS1 8 83078 9.62951E-5 41539 0 1.33159E-4
2-73651665-G-C p.Ser291Thr missense ALMS1 2 83096 2.40685E-5 41548 0 1.66945E-5
2-73651666-T-G p.Ser291Arg missense ALMS1 4 83092 4.81394E-5 41546 0 8.34655E-6
2-73651667-C-T p.Arg292Cys missense ALMS1 3 83100 3.61011E-5 41550 0 3.18451E-5
2-73651674-G-C p.Ser294Thr missense ALMS1 1 83148 1.20267E-5 41574 0 NA
2-73651689-C-T p.Pro299Leu missense ALMS1 5 83152 6.01308E-5 41576 0 9.55597E-5
2-73651694-A-C p.Ile301Leu missense ALMS1 1 83156 1.20256E-5 41578 0 1.20449E-5
2-73651696-A-T p.Ile301Ile synonymous ALMS1 1 83152 1.20262E-5 41576 0 1.20451E-5
2-73651714-G-A p.Gly307Gly synonymous ALMS1 1 83154 1.20259E-5 41577 0 8.03006E-6
2-73651735-T-A p.Pro314Pro synonymous ALMS1 1 83128 1.20296E-5 41564 0 NA
2-73651738-T-C p.Ser315Ser synonymous ALMS1 159 83118 0.00191294 41559 0 0.00129295
2-73651745-G-T p.Gly318Trp missense ALMS1 1 83126 1.20299E-5 41563 0 8.32501E-6
2-73651746-G-A p.Gly318Glu missense ALMS1 3 83120 3.60924E-5 41560 0 8.32612E-6
2-73651748-A-G p.Asn319Asp missense ALMS1 1 83126 1.20299E-5 41563 0 3.18512E-5
2-73651755-A-G p.Glu321Gly missense ALMS1 1 83116 1.20314E-5 41558 0 NA
2-73651766-T-C p.Ser325Pro missense ALMS1 1 83096 1.20343E-5 41548 0 3.1841E-5
2-73651767-C-T p.Ser325Leu missense ALMS1 6 83094 7.22074E-5 41547 0 6.36902E-5
2-73651768-G-A p.Ser325Ser synonymous ALMS1 9 83082 1.08327E-4 41541 0 6.25E-4
2-73651780-A-G p.Glu329Glu synonymous ALMS1 1 83058 1.20398E-5 41529 0 NA
2-73651802-G-C p.Asp337His missense ALMS1 1 83012 1.20465E-5 41506 0 NA
2-73651806-G-A p.Arg338His missense ALMS1 8 82992 9.63948E-5 41496 0 0.00100705
2-73651812-A-G p.Asp340Gly missense ALMS1 1 82982 1.20508E-5 41491 0 NA
2-73651825-A-G p.Ser344Ser synonymous ALMS1 5 82960 6.027E-5 41480 0 7.47285E-5
2-73651827-A-G p.Tyr345Cys missense ALMS1 1 82948 1.20557E-5 41474 0 3.21069E-5
2-73651845-G-A p.Arg351Gln missense ALMS1 2 82898 2.4126E-5 41449 0 1.60573E-5
2-73651854-C-T p.Thr354Ile missense ALMS1 8 82856 9.65531E-5 41428 0 1.27364E-4
2-73651868-A-G p.Asn359Asp missense ALMS1 2 82808 2.41523E-5 41404 0 NA
2-73651877-GC-G p.Ala362fs frameshift ALMS1 1 82764 1.20825E-5 41382 0 NA
2-73651879-TGA-T p.Asp363fs frameshift ALMS1 1 82770 1.20817E-5 41385 0 NA
2-73651883-A-G p.Lys364Glu missense ALMS1 1 82750 1.20846E-5 41375 0 3.1835E-5
2-73651886-G-A p.Asp365Asn missense ALMS1 1 82760 1.20831E-5 41380 0 NA
2-73651889-C-G p.Gln366Glu missense ALMS1 1 82748 1.20849E-5 41374 0 NA
2-73651892-G-A p.Val367Ile missense ALMS1 1 82738 1.20863E-5 41369 0 NA
2-73651897-A-G p.Ser368Ser synonymous ALMS1 1 82740 1.20861E-5 41370 0 4.01916E-6
2-73651919-A-T p.Thr376Ser missense ALMS1 6 82696 7.25549E-5 41348 0 0.001875
2-73651921-T-C p.Thr376Thr synonymous ALMS1 1 82702 1.20916E-5 41351 0 NA
2-73651923-A-T p.Asp377Val missense ALMS1 2 82692 2.41861E-5 41346 0 NA
2-73651932-T-C p.Ile380Thr missense ALMS1 1 82692 1.20931E-5 41346 0 5.02235E-5
2-73651937-A-G p.Thr382Ala missense ALMS1 560 82678 0.00677327 41339 11 0.0139145
2-73651946-A-G p.Ser385Gly missense ALMS1 1 82666 1.20969E-5 41333 0 3.1837E-5
2-73651947-G-A p.Ser385Asn missense ALMS1 1 82676 1.20954E-5 41338 0 3.1837E-5
2-73651954-T-C p.His387His synonymous ALMS1 20 82682 2.41891E-4 41341 0 2.22859E-4
2-73651967-C-T p.Arg392Cys missense ALMS1 24208 81504 0.297016 40752 4587 0.379496
2-73651967-C-A p.Arg392Ser missense ALMS1 5 82660 6.04888E-5 41330 0 2.55102E-4
2-73651968-G-A p.Arg392His missense ALMS1 2 82658 2.41961E-5 41329 0 5.03525E-4
2-73651972-A-T p.Ser393Ser synonymous ALMS1 3 82692 3.62792E-5 41346 0 9.5511E-5
2-73651972-A-C p.Ser393Ser synonymous ALMS1 2 82692 2.41861E-5 41346 0 8.46812E-6
2-73651975-T-C p.Tyr394Tyr synonymous ALMS1 132 82722 0.00159571 41361 3 0.00359873
2-73651977-G-A p.Gly395Glu missense ALMS1 1 82730 1.20875E-5 41365 0 4.0706E-6
2-73651980-A-T p.Gln396Leu missense ALMS1 1 82712 1.20901E-5 41356 0 NA
2-73651985-TGGACACA-T p.Thr399fs frameshift ALMS1 2 82692 2.41861E-5 41346 0 6.36699E-5
2-73651990-A-G p.Thr399Thr synonymous ALMS1 2 82672 2.4192E-5 41336 0 8.50514E-6
2-73652013-C-G p.Ala407Gly missense ALMS1 1 82512 1.21194E-5 41256 0 8.58915E-6
2-73652018-A-T p.Thr409Ser missense ALMS1 1 82442 1.21297E-5 41221 0 NA
2-73652022-A-G p.Tyr410Cys missense ALMS1 1 82340 1.21448E-5 41170 0 4.17348E-6
2-73652029-C-T p.Thr412Thr splice_region+synonymous ALMS1 1 82194 1.21663E-5 41097 0 NA
2-73653590-A-G p.Gln416Arg missense ALMS1 3 83022 3.6135E-5 41511 0 2.48406E-5
2-73653594-G-A p.Gly417Gly synonymous ALMS1 1 83062 1.20392E-5 41531 0 NA
2-73653595-A-G p.Lys418Glu missense ALMS1 1 83056 1.20401E-5 41528 0 1.65604E-5
2-73653597-G-T p.Lys418Asn missense ALMS1 1 83068 1.20383E-5 41534 0 NA
2-73653598-G-T p.Val419Phe missense ALMS1 1 83086 1.20357E-5 41543 0 NA
2-73653602-A-C p.Glu420Ala missense ALMS1 1 83098 1.2034E-5 41549 0 4.01001E-6
2-73653609-C-T p.Asp422Asp synonymous ALMS1 4 83160 4.81E-5 41580 0 8.0204E-6
2-73653610-G-A p.Val423Ile missense ALMS1 232 83166 0.0027896 41583 1 0.00289502
2-73653613-A-G p.Ile424Val missense ALMS1 1 83180 1.20221E-5 41590 0 1.65604E-5
2-73653672-A-G p.Leu443Leu synonymous ALMS1 1 83268 1.20094E-5 41634 0 1.20236E-5
2-73659326-C-G p.Pro447Ala missense+splice_region ALMS1 2 82892 2.41278E-5 41446 0 9.56023E-5
2-73659330-C-G p.Thr448Arg missense ALMS1 4 82900 4.82509E-5 41450 0 7.62103E-5
2-73659339-C-T p.Ser451Leu missense ALMS1 2 82846 2.41412E-5 41423 0 3.61031E-5
2-73659340-G-A p.Ser451Ser synonymous ALMS1 3 82850 3.621E-5 41425 0 5.03525E-4
2-73659355-A-T p.Ser456Ser synonymous ALMS1 2 82806 2.41528E-5 41403 0 NA
2-73659365-A-G p.Met460Val missense ALMS1 1 82772 1.20814E-5 41386 0 NA
2-73659368-T-C p.Leu461Leu synonymous ALMS1 2 82776 2.41616E-5 41388 0 4.01242E-6
2-73659373-G-A p.Arg462Arg synonymous ALMS1 2 82754 2.4168E-5 41377 0 5.03525E-4
2-73659380-C-T p.Pro465Ser missense ALMS1 1 82736 1.20866E-5 41368 0 8.28734E-6
2-73659386-A-T p.Thr467Ser missense ALMS1 1 82728 1.20878E-5 41364 0 4.01294E-6
2-73659387-C-T p.Thr467Ile missense ALMS1 9 82726 1.08793E-4 41363 0 6.25E-4
2-73659389-G-C p.Val468Leu missense ALMS1 1 82716 1.20896E-5 41358 0 1.60532E-5
2-73659391-G-C p.Val468Val synonymous ALMS1 1 82698 1.20922E-5 41349 0 NA
2-73659407-C-A p.His474Asn missense ALMS1 10 82618 1.21039E-4 41309 0 6.25E-4
2-73659410-T-C p.Leu475Leu synonymous ALMS1 1 82556 1.2113E-5 41278 0 1.20454E-5
2-73659417-CAGGTACGTAGAAAA-C p.Gly478fs frameshift ALMS1 1 82488 1.2123E-5 41244 0 4.01558E-6
2-73659423-C-T c.1432+4C>T splice_region ALMS1 2 82354 2.42854E-5 41177 0 4.1723E-5
2-73659424-G-A c.1432+5G>A splice_region ALMS1 1 82334 1.21457E-5 41167 0 1.60729E-5
2-73659425-T-C c.1432+6T>C splice_region ALMS1 1 82318 1.2148E-5 41159 0 NA
2-73675085-T-G c.1433-5T>G splice_region ALMS1 1 82416 1.21336E-5 41208 0 NA
2-73675087-T-C c.1433-3T>C splice_region ALMS1 4 82480 4.84966E-5 41240 0 9.5584E-5
2-73675093-A-G p.Asp479Gly missense ALMS1 1 82580 1.21095E-5 41290 0 NA
2-73675102-A-G p.Lys482Arg missense ALMS1 2 82766 2.41645E-5 41383 0 NA
2-73675107-G-C p.Gly484Arg missense ALMS1 2 82824 2.41476E-5 41412 0 6.37349E-5
2-73675108-G-T p.Gly484Val missense ALMS1 1 82820 1.20744E-5 41410 0 8.31463E-6
2-73675108-G-A p.Gly484Asp missense ALMS1 8 82820 9.6595E-5 41410 0 0.00100806
2-73675110-A-G p.Ile485Val missense ALMS1 179 82856 0.00216037 41428 1 0.001875
2-73675112-A-T p.Ile485Ile synonymous ALMS1 1 82874 1.20665E-5 41437 0 NA
2-73675127-A-G p.Gln490Gln synonymous ALMS1 4 83020 4.81812E-5 41510 0 1.27413E-4
2-73675155-A-G p.Thr500Ala missense ALMS1 1 83170 1.20236E-5 41585 0 NA
2-73675167-T-G p.Ser504Ala missense ALMS1 1 83216 1.20169E-5 41608 0 NA
2-73675173-A-T p.Ile506Phe missense ALMS1 5 83226 6.00774E-5 41613 0 5.80961E-5
2-73675178-A-C p.Gly507Gly synonymous ALMS1 2 83240 2.40269E-5 41620 0 3.18573E-5
2-73675182-C-T p.His509Tyr missense ALMS1 1 83254 1.20114E-5 41627 0 NA
2-73675183-A-G p.His509Arg missense ALMS1 1 83250 1.2012E-5 41625 0 NA
2-73675205-C-G p.Asp516Glu missense ALMS1 14 83280 1.68108E-4 41640 0 1.08399E-4
2-73675214-G-A p.Gln519Gln synonymous ALMS1 4 83284 4.80284E-5 41642 0 7.69823E-5
2-73675227-T-TCTC p.Ser524_Leu525insPro disruptive_inframe_insertion ALMS1 50718 82944 0.611473 41472 15867 0.645353
2-73675232-A-G p.Leu525Leu synonymous ALMS1 3 83266 3.60291E-5 41633 0 1.66201E-5
2-73675252-A-G p.His532Arg missense ALMS1 1 83252 1.20117E-5 41626 0 NA
2-73675261-C-G p.Thr535Ser missense ALMS1 5 83232 6.0073E-5 41616 0 4.14518E-5
2-73675263-C-G p.Leu536Val missense ALMS1 38 83222 4.5661E-4 41611 0 4.45973E-4
2-73675265-C-A p.Leu536Leu synonymous ALMS1 3 83218 3.60499E-5 41609 0 NA
2-73675287-A-G p.Thr544Ala missense ALMS1 1 83110 1.20322E-5 41555 0 2.48674E-5
2-73675288-C-T p.Thr544Ile missense ALMS1 3 83102 3.61002E-5 41551 0 6.36902E-5
2-73675293-C-G p.Leu546Val missense ALMS1 1 83066 1.20386E-5 41533 0 1.20434E-5
2-73675305-A-T p.Thr550Ser missense ALMS1 3 82968 3.61585E-5 41484 0 4.01429E-6
2-73675323-A-G p.Ile556Val missense ALMS1 1 82934 1.20578E-5 41467 0 8.28871E-6
2-73675331-A-G p.Glu558Glu synonymous ALMS1 1 82892 1.20639E-5 41446 0 NA
2-73675349-T-C p.Thr564Thr synonymous ALMS1 1 82848 1.20703E-5 41424 0 6.36902E-5
2-73675355-A-G p.Thr566Thr synonymous ALMS1 6 82826 7.2441E-5 41413 0 6.62976E-5
2-73675359-A-G p.Thr568Ala missense ALMS1 1 82806 1.20764E-5 41403 0 NA
2-73675364-A-C p.Val569Val synonymous ALMS1 4 82780 4.83208E-5 41390 0 6.37105E-5
2-73675364-A-G p.Val569Val synonymous ALMS1 2 82780 2.41604E-5 41390 0 NA
2-73675372-G-T p.Ser572Ile missense ALMS1 1 82768 1.2082E-5 41384 0 4.016E-6
2-73675372-G-A p.Ser572Asn missense ALMS1 1 82768 1.2082E-5 41384 0 4.016E-6
2-73675373-T-C p.Ser572Ser synonymous ALMS1 1 82762 1.20828E-5 41381 0 NA
2-73675385-T-C p.His576His synonymous ALMS1 2 82714 2.41797E-5 41357 0 4.14388E-5
2-73675385-TA-T p.Arg577fs frameshift ALMS1 1 82714 1.20899E-5 41357 0 1.60613E-5
2-73675385-T-A p.His576Gln missense ALMS1 1 82714 1.20899E-5 41357 0 NA
2-73675388-G-A p.Arg577Arg synonymous ALMS1 1 82708 1.20907E-5 41354 0 4.01768E-6
2-73675416-G-A p.Gly587Ser missense ALMS1 1 82682 1.20945E-5 41341 0 4.01632E-6
2-73675426-A-T p.Asp590Val missense ALMS1 1 82668 1.20966E-5 41334 0 6.37024E-5
2-73675427-C-T p.Asp590Asp synonymous ALMS1 6 82686 7.25637E-5 41343 0 6.62899E-5
2-73675443-G-A p.Glu596Lys missense ALMS1 1 82754 1.2084E-5 41377 0 NA
2-73675443-G-C p.Glu596Gln missense ALMS1 1 82754 1.2084E-5 41377 0 NA
2-73675446-G-A p.Ala597Thr missense ALMS1 4 82732 4.83489E-5 41366 0 8.28555E-6
2-73675461-G-T p.Ala602Ser missense ALMS1 1 82810 1.20758E-5 41405 0 4.0139E-6
2-73675463-T-A p.Ala602Ala synonymous ALMS1 2 82830 2.41458E-5 41415 0 4.01342E-6
2-73675467-C-T p.Pro604Ser missense ALMS1 2 82842 2.41423E-5 41421 0 NA
2-73675469-T-G p.Pro604Pro synonymous ALMS1 6 82862 7.24096E-5 41431 0 3.18492E-5
2-73675475-A-T p.Leu606Leu synonymous ALMS1 1 82882 1.20653E-5 41441 0 4.01271E-6
2-73675488-A-C p.Thr611Pro missense ALMS1 1 82912 1.2061E-5 41456 0 3.18573E-5
2-73675489-C-G p.Thr611Ser missense ALMS1 1 82912 1.2061E-5 41456 0 NA
2-73675492-G-A p.Gly612Asp missense ALMS1 73 82906 8.80515E-4 41453 0 0.00194367
2-73675500-A-T p.Thr615Ser missense ALMS1 1 82908 1.20616E-5 41454 0 NA
2-73675505-A-C p.Leu616Leu synonymous ALMS1 1 82904 1.20621E-5 41452 0 NA
2-73675506-A-G p.Thr617Ala missense ALMS1 1 82908 1.20616E-5 41454 0 3.18918E-5
2-73675508-C-T p.Thr617Thr synonymous ALMS1 1 82898 1.2063E-5 41449 0 NA
2-73675509-T-C p.Ser618Pro missense ALMS1 1 82884 1.20651E-5 41442 0 NA
2-73675510-C-T p.Ser618Phe missense ALMS1 1 82884 1.20651E-5 41442 0 6.37024E-5
2-73675513-C-A p.Thr619Asn missense ALMS1 1 82868 1.20674E-5 41434 0 8.02639E-6
2-73675521-T-C p.Ser622Pro missense ALMS1 8 82812 9.66044E-5 41406 0 9.55901E-5
2-73675525-A-G p.His623Arg missense ALMS1 1462 82794 0.0176583 41397 17 0.0189784
2-73675525-A-T p.His623Leu missense ALMS1 2 82826 2.4147E-5 41413 0 NA
2-73675538-T-C p.Pro627Pro synonymous ALMS1 6 82754 7.2504E-5 41377 0 7.45589E-5
2-73675540-G-A p.Gly628Asp missense ALMS1 5 82724 6.0442E-5 41362 0 6.37349E-5
2-73675553-A-G p.Gln632Gln synonymous ALMS1 501 82626 0.00606347 41313 5 0.0115331
2-73675554-C-T p.Gln633* stop_gained ALMS1 2 82630 2.42043E-5 41315 0 8.28528E-6
2-73675559-G-C p.Glu634Asp missense ALMS1 2 82598 2.42137E-5 41299 0 NA
2-73675566-G-A p.Glu637Lys missense ALMS1 1 82496 1.21218E-5 41248 0 4.01655E-6
2-73675571-T-C p.Ser638Ser synonymous ALMS1 2 82408 2.42695E-5 41204 0 NA
2-73675580-C-T p.Thr641Thr synonymous ALMS1 3 82240 3.64786E-5 41120 0 2.48633E-5
2-73675581-G-A p.Glu642Lys missense ALMS1 3 82170 3.65097E-5 41085 0 2.48608E-5
2-73675587-C-G p.Pro644Ala missense ALMS1 3 82068 3.65551E-5 41034 0 9.58895E-5
2-73675610-T-C p.Pro651Pro synonymous ALMS1 1 81744 1.22333E-5 40872 0 NA
2-73675616-A-G p.Pro653Pro synonymous ALMS1 1 81680 1.22429E-5 40840 0 NA
2-73675622-G-A p.Glu655Glu synonymous ALMS1 1 81592 1.22561E-5 40796 0 4.02366E-6
2-73675623-C-G p.Gln656Glu missense ALMS1 1 81580 1.22579E-5 40790 0 3.18715E-5
2-73675625-G-T p.Gln656His missense ALMS1 6 81580 7.35474E-5 40790 0 4.14504E-5
2-73675630-C-T p.Thr658Met missense ALMS1 8 81518 9.81378E-5 40759 0 5.03525E-4
2-73675631-G-A p.Thr658Thr synonymous ALMS1 7 81484 8.59064E-5 40742 0 9.56084E-5
2-73675644-G-A p.Val663Ile missense ALMS1 1 81516 1.22675E-5 40758 0 4.02168E-6
2-73675651-C-A p.Ser665Tyr missense ALMS1 1 81614 1.22528E-5 40807 0 NA
2-73675656-T-G p.Ser667Ala missense ALMS1 1 81640 1.22489E-5 40820 0 NA
2-73675662-T-A p.Ser669Thr missense ALMS1 5 81642 6.1243E-5 40821 0 1.49175E-4
2-73675668-G-GGAGGCTGACAATAAATTGGTAAAACATATGATGTGTCAGATGGTGTTAAGATGATTGATATA p.Val671fs frameshift ALMS1 1 81720 1.22369E-5 40860 0 NA
2-73675669-T-G p.Val671Gly missense ALMS1 71225 81534 0.873562 40767 31160 0.872399
2-73675676-C-T p.Asp673Asp synonymous ALMS1 1 81744 1.22333E-5 40872 0 6.3743E-5
2-73675680-C-G p.Leu675Val missense ALMS1 1 81798 1.22252E-5 40899 0 4.01981E-6
2-73675690-A-G p.Tyr678Cys missense ALMS1 120 81806 0.00146689 40903 0 0.005625
2-73675692-C-G p.Arg679Gly missense ALMS1 29 81794 3.54549E-4 40897 0 9.89025E-4
2-73675708-A-G p.Asp684Gly missense ALMS1 1 81842 1.22187E-5 40921 0 1.60711E-5
2-73675719-A-G p.Thr688Ala missense ALMS1 18 81900 2.1978E-4 40950 0 3.18735E-4
2-73675733-G-A p.Leu692Leu synonymous ALMS1 2 81744 2.44666E-5 40872 0 NA
2-73675736-A-T p.Lys693Asn missense ALMS1 1 81722 1.22366E-5 40861 0 NA
2-73675748-G-A p.Val697Val synonymous ALMS1 1 81706 1.2239E-5 40853 0 5.03525E-4
2-73675753-G-A p.Gly699Glu missense ALMS1 3 81690 3.67242E-5 40845 0 1.65706E-5
2-73675757-A-C p.Pro700Pro synonymous ALMS1 3 81694 3.67224E-5 40847 0 4.97108E-5
2-73675769-G-T p.Lys704Asn missense ALMS1 1 81706 1.2239E-5 40853 0 NA
2-73675771-C-T p.Thr705Ile missense ALMS1 1 81670 1.22444E-5 40835 0 NA
2-73675776-A-G p.Thr707Ala missense ALMS1 4 81638 4.89968E-5 40819 0 3.14841E-4
2-73675777-C-T p.Thr707Ile missense ALMS1 1 81674 1.22438E-5 40837 0 8.28597E-6
2-73675788-C-G p.Leu711Val missense ALMS1 2 81706 2.4478E-5 40853 0 4.02146E-5
2-73675790-C-T p.Leu711Leu synonymous ALMS1 2 81718 2.44744E-5 40859 0 3.18796E-5
2-73675791-T-C p.Ser712Pro missense ALMS1 1 81726 1.2236E-5 40863 0 0.0025
2-73675798-C-G p.Pro714Arg missense ALMS1 2 81726 2.4472E-5 40863 0 NA
2-73675806-C-T p.His717Tyr missense ALMS1 9 81820 1.09998E-4 40910 0 9.5584E-5
2-73675810-G-A p.Arg718Lys missense ALMS1 1 81852 1.22172E-5 40926 0 NA
2-73675819-C-T p.Pro721Leu missense ALMS1 2 81960 2.44021E-5 40980 0 NA
2-73675834-A-C p.Gln726Pro missense ALMS1 1 82096 1.21809E-5 41048 0 NA
2-73675836-C-G p.Gln727Glu missense ALMS1 2 82114 2.43564E-5 41057 0 NA
2-73675838-A-G p.Gln727Gln synonymous ALMS1 3 82134 3.65257E-5 41067 0 1.65733E-5
2-73675841-G-A p.Glu728Glu synonymous ALMS1 1 82150 1.21729E-5 41075 0 2.81285E-5
2-73675844-C-T p.Phe729Phe synonymous ALMS1 46947 81834 0.573686 40917 14225 0.602906
2-73675845-G-T p.Ala730Ser missense ALMS1 1 82162 1.21711E-5 41081 0 NA
2-73675845-G-A p.Ala730Thr missense ALMS1 1 82162 1.21711E-5 41081 0 8.036E-6
2-73675853-T-A p.Ser732Arg missense ALMS1 2 82250 2.43161E-5 41125 0 NA
2-73675866-G-A p.Glu737Lys missense ALMS1 1 82370 1.21403E-5 41185 0 NA
2-73675874-T-G p.Leu739Leu synonymous ALMS1 1 82404 1.21353E-5 41202 0 NA
2-73675881-G-A p.Val742Ile missense ALMS1 1 82428 1.21318E-5 41214 0 3.18512E-5
2-73675881-G-C p.Val742Leu missense ALMS1 3 82428 3.63954E-5 41214 0 4.016E-6
2-73675885-C-G p.Ser743* stop_gained ALMS1 1 82426 1.21321E-5 41213 0 4.01587E-6
2-73675887-G-C p.Ala744Pro missense ALMS1 1 82424 1.21324E-5 41212 0 NA
2-73675899-C-T p.Pro748Ser missense ALMS1 2 82414 2.42677E-5 41207 0 NA
2-73675923-C-T p.Pro756Ser missense ALMS1 23 82210 2.79771E-4 41105 0 5.6243E-5
2-73675947-T-C p.Ser764Pro missense ALMS1 4 81912 4.88329E-5 40956 0 3.18674E-5
2-73675950-C-A p.Gln765Lys missense ALMS1 1 81934 1.22049E-5 40967 0 2.81441E-5
2-73675952-A-G p.Gln765Gln synonymous ALMS1 1 81914 1.22079E-5 40957 0 3.19081E-5
2-73675960-A-G p.Lys768Arg missense ALMS1 5 81916 6.10381E-5 40958 0 3.31746E-5
2-73675963-C-T p.Pro769Leu missense ALMS1 2 81870 2.4429E-5 40935 0 6.37471E-5
2-73675966-G-A p.Ser770Asn missense ALMS1 1 81836 1.22196E-5 40918 0 NA
2-73675973-G-A p.Leu772Leu synonymous ALMS1 573 81806 0.00700438 40903 10 0.0148948
2-73675982-G-A p.Gln775Gln synonymous ALMS1 2 81932 2.44105E-5 40966 0 NA
2-73676006-T-C p.Pro783Pro synonymous ALMS1 1 82054 1.21871E-5 41027 0 NA
2-73676008-A-G p.Glu784Gly missense ALMS1 48 82078 5.8481E-4 41039 1 0.00237079
2-73676022-G-A p.Val789Ile missense ALMS1 1 82202 1.21652E-5 41101 0 NA
2-73676024-T-G p.Val789Val synonymous ALMS1 1 82228 1.21613E-5 41114 0 8.28926E-6
2-73676040-C-T p.Pro795Ser missense ALMS1 1 82338 1.21451E-5 41169 0 NA
2-73676046-G-A p.Asp797Asn missense ALMS1 1 82394 1.21368E-5 41197 0 NA
2-73676048-C-T p.Asp797Asp synonymous ALMS1 3 82396 3.64095E-5 41198 0 8.28789E-6
2-73676050-A-G p.Gln798Arg missense ALMS1 1 82430 1.21315E-5 41215 0 8.2883E-6
2-73676054-G-A p.Lys799Lys synonymous ALMS1 2 82448 2.42577E-5 41224 0 8.28748E-6
2-73676067-A-G p.Thr804Ala missense ALMS1 1 82466 1.21262E-5 41233 0 1.08454E-4
2-73676070-G-C p.Val805Leu missense ALMS1 33 82464 4.00175E-4 41232 0 0.00174028
2-73676074-C-G p.Pro806Arg missense ALMS1 3 82482 3.63716E-5 41241 0 5.03525E-4
2-73676075-C-G p.Pro806Pro synonymous ALMS1 3 82490 3.6368E-5 41245 0 NA
2-73676092-A-T p.His812Leu missense ALMS1 1 82516 1.21189E-5 41258 0 1.6573E-5
2-73676120-A-G p.Gln821Gln synonymous ALMS1 1 82532 1.21165E-5 41266 0 1.6573E-5
2-73676125-C-A p.Ala823Asp missense ALMS1 2 82524 2.42354E-5 41262 0 8.28679E-6
2-73676135-C-CT p.Ser827fs frameshift ALMS1 1 82508 1.212E-5 41254 0 NA
2-73676137-G-C p.Ser827Thr missense ALMS1 1 82492 1.21224E-5 41246 0 NA
2-73676139-C-CG p.His828fs frameshift ALMS1 1 82484 1.21236E-5 41242 0 NA
2-73676140-A-G p.His828Arg missense ALMS1 4 82482 4.84954E-5 41241 0 1.60675E-5
2-73676140-A-AAGAGTAG p.His828fs frameshift ALMS1 1 82482 1.21239E-5 41241 0 NA
2-73676147-C-T p.Pro830Pro synonymous ALMS1 1 82458 1.21274E-5 41229 0 9.94893E-5
2-73676148-G-A p.Glu831Lys missense ALMS1 2 82464 2.4253E-5 41232 0 3.18512E-5
2-73676152-A-G p.Glu832Gly missense ALMS1 1 82468 1.21259E-5 41234 0 1.65774E-5
2-73676156-T-C p.Ala833Ala synonymous ALMS1 1 82434 1.21309E-5 41217 0 3.18471E-5
2-73676169-G-A p.Ala838Thr missense ALMS1 1 82402 1.21356E-5 41201 0 3.18451E-5
2-73676171-T-G p.Ala838Ala synonymous ALMS1 5 82422 6.06634E-5 41211 0 4.41948E-5
2-73676189-C-T p.Asp844Asp synonymous ALMS1 1282 82414 0.0155556 41207 62 0.0338006
2-73676189-C-G p.Asp844Glu missense ALMS1 29 82432 3.51805E-4 41216 0 7.32717E-4
2-73676190-G-A p.Gly845Arg missense ALMS1 10 82438 1.21303E-4 41219 0 1.91241E-4
2-73676209-C-T p.Ala851Val missense ALMS1 1 82512 1.21194E-5 41256 0 8.2905E-6
2-73676224-C-T p.Ser856Phe missense ALMS1 2 82630 2.42043E-5 41315 0 1.59215E-4
2-73676230-C-T p.Ala858Val missense ALMS1 2 82646 2.41996E-5 41323 0 3.1841E-5
2-73676231-G-A p.Ala858Ala synonymous ALMS1 2 82654 2.41973E-5 41327 0 3.18674E-5
2-73676234-C-T p.Ser859Ser synonymous ALMS1 1 82694 1.20928E-5 41347 0 4.01623E-6
2-73676241-C-T p.Leu862Phe missense ALMS1 1 82714 1.20899E-5 41357 0 8.29215E-6
2-73676252-G-A p.Lys865Lys synonymous ALMS1 1 82746 1.20852E-5 41373 0 2.4874E-5
2-73676283-A-G p.Asn876Asp missense ALMS1 1 82804 1.20767E-5 41402 0 3.19061E-5
2-73676312-A-G p.Lys885Lys synonymous ALMS1 75 82734 9.0652E-4 41367 0 0.00248423
2-73676315-A-G p.Val886Val synonymous ALMS1 262 82712 0.00316762 41356 3 0.00780603
2-73676316-T-A p.Ser887Thr missense ALMS1 1 82714 1.20899E-5 41357 0 4.01519E-6
2-73676319-A-G p.Ile888Val missense ALMS1 18 82700 2.17654E-4 41350 0 0.00100705
2-73676325-C-T p.Pro890Ser missense ALMS1 1 82648 1.20995E-5 41324 0 8.29394E-6
2-73676327-T-C p.Pro890Pro synonymous ALMS1 3 82636 3.63038E-5 41318 0 NA
2-73676335-GTGA-G p.Asp894del conservative_inframe_deletion ALMS1 2 82538 2.42313E-5 41269 0 4.41962E-5
2-73676341-A-T p.Gln895Leu missense ALMS1 1 82496 1.21218E-5 41248 0 NA
2-73676358-T-G p.Ser901Ala missense ALMS1 1 82310 1.21492E-5 41155 0 NA
2-73676368-C-G p.Ser904Cys missense ALMS1 1 82222 1.21622E-5 41111 0 8.04479E-6
2-73676378-C-T p.Tyr907Tyr synonymous ALMS1 2 82120 2.43546E-5 41060 0 4.02392E-6
2-73676380-C-T p.Ser908Leu missense ALMS1 3 82116 3.65337E-5 41058 0 5.03525E-4
2-73676384-C-T p.His909His synonymous ALMS1 96 82054 0.00116996 41027 0 0.00210178
2-73676393-G-C p.Lys912Asn missense ALMS1 1 81938 1.22043E-5 40969 0 2.41653E-5
2-73676410-A-C p.Gln918Pro missense ALMS1 2 81902 2.44194E-5 40951 0 8.32861E-6
2-73676418-C-T p.Leu921Leu synonymous ALMS1 179 81926 0.0021849 40963 0 0.0045582
2-73676430-C-G p.Leu925Val missense ALMS1 1 82000 1.21951E-5 41000 0 NA
2-73676434-T-A p.Phe926Tyr missense ALMS1 4 82006 4.87769E-5 41003 0 NA
2-73676436-C-T p.Pro927Ser missense ALMS1 1 82022 1.21919E-5 41011 0 NA
2-73676452-A-C p.Lys932Thr missense ALMS1 1 82090 1.21818E-5 41045 0 NA
2-73676452-A-T p.Lys932Met missense ALMS1 1 82090 1.21818E-5 41045 0 NA
2-73676454-G-C p.Val933Leu missense ALMS1 1 82104 1.21797E-5 41052 0 NA
2-73676499-A-G p.Thr948Ala missense ALMS1 2 82078 2.43671E-5 41039 0 NA
2-73676502-G-T p.Val949Leu missense ALMS1 3 82062 3.65577E-5 41031 0 NA
2-73676503-T-C p.Val949Ala missense ALMS1 1 82068 1.2185E-5 41034 0 8.32154E-6
2-73676511-A-C p.Asn952His missense ALMS1 1 82040 1.21892E-5 41020 0 NA
2-73676520-T-C p.Ser955Pro missense ALMS1 1 81954 1.2202E-5 40977 0 NA
2-73676521-C-G p.Ser955* stop_gained ALMS1 1 81946 1.22032E-5 40973 0 NA
2-73676521-C-T p.Ser955Leu missense ALMS1 1 81946 1.22032E-5 40973 0 NA
2-73676529-G-A p.Glu958Lys missense ALMS1 2 81854 2.44337E-5 40927 0 3.18512E-5
2-73676547-T-C p.Tyr964His missense ALMS1 12 81684 1.46908E-4 40842 0 1.28908E-4
2-73676553-C-T p.Gln966* stop_gained ALMS1 1 81654 1.22468E-5 40827 0 NA
2-73676567-C-T p.Asp970Asp synonymous ALMS1 1 81564 1.22603E-5 40782 0 4.03024E-6
2-73676568-A-G p.Ser971Gly missense ALMS1 1 81556 1.22615E-5 40778 0 NA
2-73676576-A-T p.Leu973Leu synonymous ALMS1 1 81512 1.22681E-5 40756 0 1.2092E-5
2-73676584-A-T p.Glu976Val missense ALMS1 2 81446 2.45561E-5 40723 0 NA
2-73676597-G-A p.Met980Ile missense ALMS1 1 81414 1.22829E-5 40707 0 5.03525E-4
2-73676599-C-T p.Ser981Phe missense ALMS1 1 81418 1.22823E-5 40709 0 NA
2-73676623-A-G p.Gln989Arg missense ALMS1 11 81544 1.34897E-4 40772 0 7.65728E-5
2-73676627-G-T p.Lys990Asn missense ALMS1 1 81568 1.22597E-5 40784 0 NA
2-73676633-C-T p.Val992Val synonymous ALMS1 2 81596 2.4511E-5 40798 0 4.02985E-6
2-73676645-A-G p.Thr996Thr synonymous ALMS1 1 81716 1.22375E-5 40858 0 8.32639E-6
2-73676656-G-T p.Gly1000Val missense ALMS1 1 81796 1.22255E-5 40898 0 1.20798E-5
2-73676656-G-A p.Gly1000Asp missense ALMS1 1 81796 1.22255E-5 40898 0 4.02661E-6
2-73676663-C-T p.Phe1002Phe synonymous ALMS1 1 81876 1.22136E-5 40938 0 NA
2-73676667-C-T p.His1004Tyr missense ALMS1 2 81916 2.44153E-5 40958 0 NA
2-73676669-T-TA p.Arg1005fs frameshift ALMS1 1 81940 1.22041E-5 40970 0 2.49659E-5
2-73676692-A-G p.Tyr1012Cys missense ALMS1 1 82122 1.2177E-5 41061 0 6.36821E-5
2-73676693-T-A p.Tyr1012* stop_gained ALMS1 1 82122 1.2177E-5 41061 0 NA
2-73676703-T-A p.Trp1016Arg missense ALMS1 1 82172 1.21696E-5 41086 0 NA
2-73676716-A-T p.Tyr1020Phe missense ALMS1 1 82240 1.21595E-5 41120 0 3.18552E-5
2-73676722-C-G p.Thr1022Ser missense ALMS1 2 82294 2.43031E-5 41147 0 NA
2-73676724-G-C p.Glu1023Gln missense ALMS1 3 82284 3.64591E-5 41142 0 NA
2-73676730-G-C p.Ala1025Pro missense ALMS1 5 82292 6.07592E-5 41146 0 4.14903E-5
2-73676733-C-T p.Leu1026Leu synonymous ALMS1 2 82334 2.42913E-5 41167 0 NA
2-73676742-T-A p.Ser1029Thr missense ALMS1 3 82368 3.64219E-5 41184 0 1.20581E-5
2-73676745-A-G p.Thr1030Ala missense ALMS1 2 82366 2.42819E-5 41183 0 3.19101E-5
2-73676746-C-G p.Thr1030Ser missense ALMS1 26 82378 3.15618E-4 41189 1 0.003125
2-73676749-G-A p.Gly1031Asp missense ALMS1 1 82388 1.21377E-5 41194 0 NA
2-73676756-A-T p.Gly1033Gly synonymous ALMS1 1 82438 1.21303E-5 41219 0 NA
2-73676757-C-T p.Pro1034Ser missense ALMS1 13 82446 1.57679E-4 41223 0 9.55657E-5
2-73676757-C-G p.Pro1034Ala missense ALMS1 3 82446 3.63875E-5 41223 0 NA
2-73676771-G-T p.Lys1038Asn missense ALMS1 1 82506 1.21203E-5 41253 0 NA
2-73676781-C-A p.Pro1042Thr missense ALMS1 1 82558 1.21127E-5 41279 0 3.18613E-5
2-73676788-T-A p.Val1044Glu missense ALMS1 1 82608 1.21054E-5 41304 0 NA
2-73676789-A-G p.Val1044Val synonymous ALMS1 1 82614 1.21045E-5 41307 0 NA
2-73676797-G-A p.Ser1047Asn missense ALMS1 2 82632 2.42037E-5 41316 0 6.37349E-5
2-73676807-A-C p.Pro1050Pro synonymous ALMS1 2 82640 2.42014E-5 41320 0 0.00151057
2-73676831-G-C p.Leu1058Phe missense ALMS1 1 82672 1.2096E-5 41336 0 8.28404E-6
2-73676839-A-T p.Gln1061Leu missense ALMS1 1 82668 1.20966E-5 41334 0 NA
2-73676847-T-C p.Ser1064Pro missense ALMS1 188 82626 0.00227531 41313 2 0.0051934
2-73676875-T-C p.Leu1073Pro missense ALMS1 2 82484 2.42471E-5 41242 0 NA
2-73676887-C-T p.Ala1077Val missense ALMS1 2 82352 2.4286E-5 41176 0 NA
2-73676892-C-T p.Pro1079Ser missense ALMS1 1 82350 1.21433E-5 41175 0 NA
2-73676895-GGACCAGCT-G p.Ala1082fs frameshift ALMS1 1 82344 1.21442E-5 41172 0 8.29105E-6
2-73676896-G-A p.Gly1080Glu missense ALMS1 1 82324 1.21471E-5 41162 0 NA
2-73676900-A-G p.Pro1081Pro synonymous ALMS1 1 82306 1.21498E-5 41153 0 2.73632E-4
2-73676909-G-T p.Gln1084His missense ALMS1 1 82192 1.21666E-5 41096 0 8.29407E-5
2-73676909-G-C p.Gln1084His missense ALMS1 1 82192 1.21666E-5 41096 0 6.36862E-5
2-73676919-A-G p.Thr1088Ala missense ALMS1 1 82102 1.218E-5 41051 0 3.18532E-5
2-73676920-C-G p.Thr1088Arg missense ALMS1 3 82084 3.65479E-5 41042 0 0.0025
2-73676920-C-T p.Thr1088Ile missense ALMS1 1 82086 1.21823E-5 41043 0 4.02168E-6
2-73676932-C-T p.Pro1092Leu missense ALMS1 7 81996 8.537E-5 40998 0 2.05217E-4
2-73676944-A-G p.Tyr1096Cys missense ALMS1 42 81988 5.1227E-4 40994 1 5.03525E-4
2-73676945-C-T p.Tyr1096Tyr synonymous ALMS1 2 81990 2.43932E-5 40995 0 8.04699E-6
2-73676949-C-G p.Gln1098Glu missense ALMS1 1 81980 1.21981E-5 40990 0 NA
2-73676949-C-A p.Gln1098Lys missense ALMS1 7 81980 8.53867E-5 40990 0 6.25E-4
2-73676959-A-C p.Lys1101Thr missense ALMS1 10 82002 1.21948E-4 41001 0 2.49449E-4
2-73676961-C-G p.Pro1102Ala missense ALMS1 86 81962 0.00104927 40981 0 5.71493E-4
2-73676965-G-A p.Gly1103Asp missense ALMS1 186 82052 0.00226686 41026 1 0.002039
2-73676972-C-T p.Phe1105Phe synonymous ALMS1 1 82084 1.21826E-5 41042 0 NA
2-73676974-A-G p.Tyr1106Cys missense ALMS1 1 82100 1.21803E-5 41050 0 NA
2-73677005-T-G p.Pro1116Pro synonymous ALMS1 1 82520 1.21183E-5 41260 0 NA
2-73677029-A-G p.Val1124Val synonymous ALMS1 16 82758 1.93335E-4 41379 0 2.88388E-4
2-73677033-C-T p.Pro1126Ser missense ALMS1 6 82816 7.24498E-5 41408 0 1.91559E-4
2-73677043-C-G p.Ala1129Gly missense ALMS1 1 82852 1.20697E-5 41426 0 NA
2-73677049-A-G p.Gln1131Arg missense ALMS1 2 82888 2.41289E-5 41444 0 9.55597E-5
2-73677053-G-A p.Lys1132Lys synonymous ALMS1 1 82908 1.20616E-5 41454 0 1.27453E-4
2-73677060-A-G p.Thr1135Ala missense ALMS1 2 82920 2.41196E-5 41460 0 NA
2-73677066-A-G p.Thr1137Ala missense ALMS1 18 82904 2.17119E-4 41452 0 0.00100705
2-73677070-T-C p.Val1138Ala missense ALMS1 1 82912 1.2061E-5 41456 0 NA
2-73677072-A-T p.Thr1139Ser missense ALMS1 1 82904 1.20621E-5 41452 0 NA
2-73677074-C-T p.Thr1139Thr synonymous ALMS1 1 82916 1.20604E-5 41458 0 3.18573E-5
2-73677094-A-G p.His1146Arg missense ALMS1 1 82856 1.20691E-5 41428 0 NA
2-73677098-A-G p.Arg1147Arg synonymous ALMS1 4 82818 4.82987E-5 41409 0 1.65706E-5
2-73677118-A-C p.His1154Pro missense ALMS1 2 82740 2.41721E-5 41370 0 3.18532E-5
2-73677131-G-T p.Leu1158Phe missense ALMS1 2 82730 2.4175E-5 41365 0 1.077E-4
2-73677144-A-G p.Ile1163Val missense ALMS1 3 82790 3.62363E-5 41395 0 9.60123E-5
2-73677145-T-C p.Ile1163Thr missense ALMS1 2 82794 2.41563E-5 41397 0 NA
2-73677147-C-T p.Pro1164Ser missense ALMS1 1 82792 1.20785E-5 41396 0 1.88644E-4
2-73677148-C-A p.Pro1164His missense ALMS1 1 82790 1.20788E-5 41395 0 NA
2-73677155-G-A p.Glu1166Glu synonymous ALMS1 4 82808 4.83045E-5 41404 0 NA
2-73677161-G-A p.Gln1168Gln synonymous ALMS1 1 82838 1.20718E-5 41419 0 NA
2-73677168-T-A p.Ser1171Thr missense ALMS1 3 82848 3.62109E-5 41424 0 8.28349E-6
2-73677182-A-G p.Gly1175Gly synonymous ALMS1 2 82858 2.41377E-5 41429 0 4.01252E-6
2-73677190-A-C p.Asn1178Thr missense ALMS1 1 82862 1.20683E-5 41431 0 NA
2-73677199-C-T p.Thr1181Ile missense ALMS1 1 82856 1.20691E-5 41428 0 6.37267E-5
2-73677204-A-T p.Ile1183Leu missense ALMS1 2 82870 2.41342E-5 41435 0 8.28349E-6
2-73677209-A-C p.Pro1184Pro synonymous ALMS1 1 82874 1.20665E-5 41437 0 6.25E-4
2-73677213-G-A p.Val1186Ile missense ALMS1 1 82886 1.20648E-5 41443 0 8.28459E-6
2-73677213-G-T p.Val1186Leu missense ALMS1 1 82886 1.20648E-5 41443 0 NA
2-73677222-A-G p.Thr1189Ala missense ALMS1 6 82902 7.23746E-5 41451 0 6.37308E-5
2-73677232-C-T p.Ser1192Leu missense ALMS1 2 82936 2.4115E-5 41468 0 6.37227E-5
2-73677236-A-G p.Gln1193Gln synonymous ALMS1 1 82938 1.20572E-5 41469 0 8.28446E-6
2-73677250-G-A p.Gly1198Asp missense ALMS1 2 82936 2.4115E-5 41468 0 NA
2-73677259-A-G p.Tyr1201Cys missense ALMS1 1 82950 1.20555E-5 41475 0 6.62822E-5
2-73677281-T-G p.Ser1208Arg missense ALMS1 2 83002 2.40958E-5 41501 0 NA
2-73677321-G-A p.Gly1222Arg missense ALMS1 2 82938 2.41144E-5 41469 0 4.01197E-6
2-73677343-G-A p.Gly1229Glu missense ALMS1 11 82872 1.32735E-4 41436 0 5.03525E-4
2-73677350-A-G p.Pro1231Pro synonymous ALMS1 2 82858 2.41377E-5 41429 0 2.48571E-5
2-73677371-C-T p.Tyr1238Tyr synonymous ALMS1 3 82746 3.62555E-5 41373 0 8.03052E-6
2-73677381-G-C p.Glu1242Gln missense ALMS1 8 82714 9.67188E-5 41357 1 1.84737E-4
2-73677384-A-G p.Lys1243Glu missense ALMS1 1 82704 1.20913E-5 41352 0 8.28748E-6
2-73677386-G-A p.Lys1243Lys synonymous ALMS1 39 82694 4.71618E-4 41347 1 0.0025
2-73677393-A-G p.Ile1246Val missense ALMS1 1 82666 1.20969E-5 41333 0 4.92029E-4
2-73677406-AG-A p.Val1251fs frameshift ALMS1 1 82710 1.20904E-5 41355 0 NA
2-73677409-T-G p.Val1251Gly missense ALMS1 1 82698 1.20922E-5 41349 0 NA
2-73677417-G-C p.Asp1254His missense ALMS1 1 82640 1.21007E-5 41320 0 4.8206E-4
2-73677418-A-G p.Asp1254Gly missense ALMS1 1 82698 1.20922E-5 41349 0 8.032E-6
2-73677421-A-G p.Asn1255Ser missense ALMS1 1 82632 1.21018E-5 41316 0 4.4405E-4
2-73677459-T-C p.Ser1268Pro missense ALMS1 1 82784 1.20796E-5 41392 0 NA
2-73677462-G-C p.Glu1269Gln missense ALMS1 1 82790 1.20788E-5 41395 0 NA
2-73677464-A-C p.Glu1269Asp missense ALMS1 1 82794 1.20782E-5 41397 0 NA
2-73677466-C-A p.Pro1270Gln missense ALMS1 12 82804 1.44921E-4 41402 0 2.24E-4
2-73677466-C-T p.Pro1270Leu missense ALMS1 1 82804 1.20767E-5 41402 0 3.2E-5
2-73677493-C-G p.Ala1279Gly missense ALMS1 2 82938 2.41144E-5 41469 0 9.58099E-5
2-73677514-C-T p.Ser1286Leu missense ALMS1 5 82968 6.02642E-5 41484 0 6.39141E-5
2-73677520-A-G p.Tyr1288Cys missense ALMS1 1 83012 1.20465E-5 41506 0 8.28624E-6
2-73677521-T-C p.Tyr1288Tyr synonymous ALMS1 2 83018 2.40912E-5 41509 0 2.5623E-4
2-73677535-G-C p.Ser1293Thr missense ALMS1 3 83072 3.61133E-5 41536 0 2.80849E-5
2-73677546-C-A p.Gln1297Lys missense ALMS1 2 83104 2.40662E-5 41552 0 9.56633E-5
2-73677548-A-G p.Gln1297Gln synonymous ALMS1 3943 82962 0.0475278 41481 125 0.0667883
2-73677553-C-A p.Ser1299* stop_gained ALMS1 1 83114 1.20317E-5 41557 0 8.28528E-6
2-73677559-C-G p.Pro1301Arg missense ALMS1 1 83104 1.20331E-5 41552 0 3.18776E-5
2-73677590-T-C p.Asn1311Asn synonymous ALMS1 2 83102 2.40668E-5 41551 0 1.01461E-4
2-73677596-A-C p.Ser1313Ser synonymous ALMS1 123 83102 0.00148011 41551 0 8.61426E-4
2-73677598-C-T p.Ala1314Val missense ALMS1 4 83072 4.8151E-5 41536 0 1.59378E-4
2-73677599-G-A p.Ala1314Ala synonymous ALMS1 2 83074 2.40749E-5 41537 0 2.70234E-4
2-73677613-C-G p.Ala1319Gly missense ALMS1 2 83040 2.40848E-5 41520 0 1.20382E-5
2-73677634-C-T p.Pro1326Leu missense ALMS1 1 82940 1.20569E-5 41470 0 0.00100705
2-73677637-T-A p.Ile1327Asn missense ALMS1 1 82932 1.20581E-5 41466 0 NA
2-73677637-T-C p.Ile1327Thr missense ALMS1 1 82932 1.20581E-5 41466 0 3.36826E-4
2-73677670-A-G p.Lys1338Arg missense ALMS1 1 82876 1.20662E-5 41438 0 NA
2-73677678-G-A p.Val1341Ile missense ALMS1 3 82870 3.62013E-5 41435 0 9.37383E-4
2-73677681-T-A p.Phe1342Ile missense ALMS1 1 82902 1.20624E-5 41451 0 NA
2-73677690-C-G p.Gln1345Glu missense ALMS1 1 82952 1.20552E-5 41476 0 3.61205E-5
2-73677703-A-G p.His1349Arg missense ALMS1 1 82996 1.20488E-5 41498 0 2.24503E-4
2-73677706-G-A p.Ser1350Asn missense ALMS1 4 82978 4.82055E-5 41489 0 5.40735E-4
2-73677722-G-C p.Glu1355Asp missense ALMS1 4 83064 4.81556E-5 41532 0 6.82019E-5
2-73677736-C-T p.Ser1360Leu missense ALMS1 1 83084 1.2036E-5 41542 0 NA
2-73677774-C-T p.Pro1373Ser missense ALMS1 1 83126 1.20299E-5 41563 0 NA
2-73677777-A-G p.Thr1374Ala missense ALMS1 1 83122 1.20305E-5 41561 0 4.97199E-5
2-73677788-T-C p.Ser1377Ser synonymous ALMS1 24 83144 2.88656E-4 41572 0 6.12311E-4
2-73677795-TACTC-T p.Ser1381fs frameshift ALMS1 1 83144 1.20273E-5 41572 0 NA
2-73677803-A-G p.Gln1382Gln synonymous ALMS1 35 83146 4.20946E-4 41573 0 0.00151057
2-73677805-A-G p.His1383Arg missense ALMS1 1 83150 1.20265E-5 41575 0 3.3145E-5
2-73677806-T-TA p.Thr1384fs frameshift ALMS1 3 83144 3.6082E-5 41572 0 3.20595E-5
2-73677808-C-G p.Thr1384Arg missense ALMS1 605 83116 0.00727898 41558 21 0.0165803
2-73677809-A-C p.Thr1384Thr synonymous ALMS1 1 83130 1.20294E-5 41565 0 NA
2-73677814-A-C p.Lys1386Thr missense ALMS1 2 83132 2.40581E-5 41566 0 4.01142E-6
2-73677817-C-T p.Pro1387Leu missense ALMS1 4 83126 4.81197E-5 41563 0 6.38855E-5
2-73677824-T-G p.Ile1389Met missense ALMS1 4 83158 4.81012E-5 41579 0 NA
2-73677830-C-T p.Tyr1391Tyr synonymous ALMS1 1 83166 1.20241E-5 41583 0 8.28542E-6
2-73677833-A-G p.Gln1392Gln synonymous ALMS1 24196 82792 0.29225 41396 4435 0.358298
2-73677838-C-T p.Ser1394Leu missense ALMS1 1 83170 1.20236E-5 41585 0 8.02311E-6
2-73677839-G-A p.Ser1394Ser synonymous ALMS1 1 83168 1.20239E-5 41584 0 5.03525E-4
2-73677853-A-G p.His1399Arg missense ALMS1 3 83164 3.60733E-5 41582 0 6.38366E-5
2-73677858-A-G p.Thr1401Ala missense ALMS1 19 83160 2.28475E-4 41580 0 0.003125
2-73677867-G-A p.Ala1404Thr missense ALMS1 1 83150 1.20265E-5 41575 0 NA
2-73677871-A-G p.Lys1405Arg missense ALMS1 1 83152 1.20262E-5 41576 0 NA
2-73677876-G-A p.Val1407Ile missense ALMS1 30 83146 3.60811E-4 41573 0 4.30699E-4
2-73677882-G-C p.Ala1409Pro missense ALMS1 25 83130 3.00734E-4 41565 0 0.00352467
2-73677882-G-T p.Ala1409Ser missense ALMS1 1 83134 1.20288E-5 41567 0 1.65656E-5
2-73677883-C-T p.Ala1409Val missense ALMS1 4 83132 4.81162E-5 41566 0 6.37796E-5
2-73677884-G-A p.Ala1409Ala synonymous ALMS1 1 83118 1.20311E-5 41559 0 1.65673E-5
2-73677890-T-C p.Pro1411Pro synonymous ALMS1 1 83114 1.20317E-5 41557 0 NA
2-73677895-C-G p.Pro1413Arg missense ALMS1 3 83110 3.60967E-5 41555 0 2.00597E-5
2-73677898-G-C p.Gly1414Ala missense ALMS1 25197 82808 0.304282 41404 5018 0.397361
2-73677898-G-T p.Gly1414Val missense ALMS1 1 83100 1.20337E-5 41550 0 NA
2-73677903-C-T p.Arg1416Trp missense ALMS1 26 83072 3.12982E-4 41536 0 5.03525E-4
2-73677908-G-A p.Lys1417Lys synonymous ALMS1 2 83060 2.4079E-5 41530 0 NA
2-73677917-A-G p.Ile1420Met missense ALMS1 2 83046 2.4083E-5 41523 0 4.01303E-6
2-73677940-A-G p.Tyr1428Cys missense ALMS1 2 82948 2.41115E-5 41474 0 5.03525E-4
2-73677942-TCACA-T p.His1430fs frameshift ALMS1 1 82954 1.20549E-5 41477 0 NA
2-73677945-C-A p.His1430Asn missense ALMS1 3 82934 3.61733E-5 41467 0 NA
2-73677970-A-C p.Tyr1438Ser missense ALMS1 13 82958 1.56706E-4 41479 0 3.82166E-4
2-73677978-G-T p.Val1441Phe missense ALMS1 3 83004 3.61428E-5 41502 0 1.65675E-5
2-73677983-G-T p.Leu1442Phe missense ALMS1 30 83026 3.61333E-4 41513 0 7.32624E-4
2-73677993-C-T p.His1446Tyr missense ALMS1 2 83090 2.40703E-5 41545 0 4.01204E-6
2-73677995-T-C p.His1446His synonymous ALMS1 1 83092 1.20349E-5 41546 0 1.27421E-4
2-73677998-A-G p.Leu1447Leu synonymous ALMS1 62 83104 7.46053E-4 41552 0 6.81959E-4
2-73678000-C-CT p.Glu1449fs frameshift ALMS1 1 83122 1.20305E-5 41561 0 8.28446E-6
2-73678001-T-G p.Pro1448Pro synonymous ALMS1 1 83122 1.20305E-5 41561 0 NA
2-73678008-G-A p.Ala1451Thr missense ALMS1 2 83140 2.40558E-5 41570 0 6.62833E-5
2-73678014-G-C p.Glu1453Gln missense ALMS1 1 83152 1.20262E-5 41576 0 3.19652E-5
2-73678023-G-T p.Val1456Phe missense ALMS1 2 83170 2.40471E-5 41585 0 8.28597E-6
2-73678024-T-C p.Val1456Ala missense ALMS1 2 83172 2.40466E-5 41586 0 NA
2-73678028-TC-CT p.AlaPro1457AlaSer missense ALMS1 1 83190 1.20207E-5 41595 0 NA
2-73678033-G-T p.Gly1459Val missense ALMS1 1 83196 1.20198E-5 41598 0 4.01332E-6
2-73678033-G-A p.Gly1459Glu missense ALMS1 1 83196 1.20198E-5 41598 0 1.65736E-5
2-73678048-C-T p.Thr1464Met missense ALMS1 9 83218 1.0815E-4 41609 0 0.00100705
2-73678049-G-A p.Thr1464Thr synonymous ALMS1 2 83218 2.40333E-5 41609 0 8.28803E-6
2-73678054-G-T p.Gly1466Val missense ALMS1 22 83230 2.64328E-4 41615 0 7.01173E-4
2-73678059-C-A p.Pro1468Thr missense ALMS1 5 83228 6.00759E-5 41614 0 4.41384E-5
2-73678080-A-G p.Ser1475Gly missense ALMS1 1 83234 1.20143E-5 41617 0 NA
2-73678081-G-C p.Ser1475Thr missense ALMS1 1 83220 1.20163E-5 41610 0 3.19203E-5
2-73678084-C-T p.Ser1476Leu missense ALMS1 2 83230 2.40298E-5 41615 0 8.02272E-6
2-73678090-G-A p.Gly1478Glu missense ALMS1 1 83204 1.20187E-5 41602 0 8.28638E-6
2-73678091-A-G p.Gly1478Gly synonymous ALMS1 1 83202 1.20189E-5 41601 0 NA
2-73678101-A-G p.Ile1482Val missense ALMS1 1 83208 1.20181E-5 41604 0 4.14319E-5
2-73678102-T-C p.Ile1482Thr missense ALMS1 6 83200 7.21154E-5 41600 0 3.3145E-5
2-73678107-A-G p.Ile1484Val missense ALMS1 1 83202 1.20189E-5 41601 0 NA
2-73678118-G-A p.Gln1487Gln synonymous ALMS1 2 83204 2.40373E-5 41602 0 2.40639E-5
2-73678124-T-C p.Phe1489Phe synonymous ALMS1 8 83198 9.61562E-5 41599 0 8.2872E-6
2-73678126-C-T p.Pro1490Leu missense ALMS1 1 83198 1.20195E-5 41599 0 4.01023E-6
2-73678131-G-T p.Gly1492Cys missense ALMS1 1 83206 1.20184E-5 41603 0 NA
2-73678135-A-G p.His1493Arg missense ALMS1 2 83226 2.4031E-5 41613 0 NA
2-73678137-C-G p.Leu1494Val missense ALMS1 1 83222 1.20161E-5 41611 0 8.28569E-6
2-73678186-A-G p.Gln1510Arg missense ALMS1 1 83198 1.20195E-5 41599 0 4.0112E-6
2-73678189-C-T p.Thr1511Ile missense ALMS1 1 83198 1.20195E-5 41599 0 NA
2-73678196-C-T p.Gly1513Gly synonymous ALMS1 1 83176 1.20227E-5 41588 0 3.19428E-5
2-73678197-G-A p.Ala1514Thr missense ALMS1 20 83174 2.4046E-4 41587 0 0.00125
2-73678211-C-T p.Thr1518Thr synonymous ALMS1 1 83190 1.20207E-5 41595 0 NA
2-73678228-A-C p.Gln1524Pro missense ALMS1 3 83120 3.60924E-5 41560 0 8.28569E-6
2-73678231-A-G p.His1525Arg missense ALMS1 1 83098 1.2034E-5 41549 0 4.01394E-6
2-73678238-A-C p.Ala1527Ala synonymous ALMS1 1 83070 1.2038E-5 41535 0 8.02903E-6
2-73678248-A-G p.Ser1531Gly missense ALMS1 1 83030 1.20438E-5 41515 0 NA
2-73678259-A-G p.Gln1534Gln synonymous ALMS1 164 83014 0.00197557 41507 0 0.00395459
2-73678259-A-C p.Gln1534His missense ALMS1 1 83014 1.20462E-5 41507 0 NA
2-73678270-T-C p.Leu1538Pro missense ALMS1 2 82950 2.41109E-5 41475 0 1.657E-5
2-73678280-A-G p.Gln1541Gln synonymous ALMS1 5 82914 6.03034E-5 41457 0 4.97076E-5
2-73678298-C-G p.Leu1547Leu synonymous ALMS1 1 82822 1.20741E-5 41411 0 NA
2-73678300-G-A p.Arg1548Lys missense ALMS1 2 82802 2.4154E-5 41401 0 3.23457E-5
2-73678300-G-T p.Arg1548Ile missense ALMS1 1 82802 1.2077E-5 41401 0 8.285E-6
2-73678302-G-A p.Val1549Ile missense ALMS1 1 82786 1.20793E-5 41393 0 4.01445E-6
2-73678303-T-G p.Val1549Gly missense ALMS1 1 82792 1.20785E-5 41396 0 8.28418E-6
2-73678332-A-G p.Thr1559Ala missense ALMS1 1 82604 1.2106E-5 41302 0 NA
2-73678337-T-C p.Thr1560Thr synonymous ALMS1 1 82608 1.21054E-5 41304 0 NA
2-73678340-C-T p.Gly1561Gly synonymous ALMS1 2 82558 2.42254E-5 41279 0 4.0169E-6
2-73678344-C-T p.Pro1563Ser missense ALMS1 2 82524 2.42354E-5 41262 0 NA
2-73678345-C-G p.Pro1563Arg missense ALMS1 1 82528 1.21171E-5 41264 0 8.28569E-6
2-73678348-C-A p.Thr1564Asn missense ALMS1 2 82498 2.4243E-5 41249 0 NA
2-73678351-T-C p.Ile1565Thr missense ALMS1 1 82468 1.21259E-5 41234 0 NA
2-73678354-C-A p.Thr1566Asn missense ALMS1 2 82452 2.42565E-5 41226 0 3.19346E-5
2-73678355-C-T p.Thr1566Thr synonymous ALMS1 2 82430 2.4263E-5 41215 0 4.01777E-6
2-73678384-C-T p.Pro1576Leu missense ALMS1 4 81970 4.87983E-5 40985 0 3.31581E-5
2-73678385-G-A p.Pro1576Pro synonymous ALMS1 5 81932 6.10262E-5 40966 0 5.03525E-4
2-73678395-T-C p.Tyr1580His missense ALMS1 1 81544 1.22633E-5 40772 0 NA
2-73678410-C-G p.Pro1585Ala missense ALMS1 1 81178 1.23186E-5 40589 0 1.20658E-5
2-73678412-A-G p.Pro1585Pro synonymous ALMS1 1 81168 1.23201E-5 40584 0 1.60878E-5
2-73678415-T-C p.Asp1586Asp synonymous ALMS1 1 81168 1.23201E-5 40584 0 1.65818E-5
2-73678419-C-A p.His1588Asn missense ALMS1 2 81158 2.46433E-5 40579 0 1.20655E-5
2-73678442-A-C p.Lys1595Asn missense ALMS1 1 81670 1.22444E-5 40835 0 8.04447E-6
2-73678449-A-G p.Ile1598Val missense ALMS1 5 81830 6.11023E-5 40915 0 3.18979E-5
2-73678467-GA-G p.Lys1606fs frameshift ALMS1 1 82012 1.21933E-5 41006 0 8.29724E-6
2-73678478-T-G p.Thr1607Thr synonymous ALMS1 1 82066 1.21853E-5 41033 0 1.65989E-5
2-73678486-C-T p.Pro1610Leu missense ALMS1 2 82100 2.43605E-5 41050 0 NA
2-73678497-T-G p.Leu1614Val missense ALMS1 4 82170 4.86796E-5 41085 0 8.30592E-6
2-73678501-G-A p.Gly1615Asp missense ALMS1 1 82164 1.21708E-5 41082 0 5.81598E-5
2-73678511-A-G p.Ala1618Ala synonymous ALMS1 10 82230 1.2161E-4 41115 0 3.21732E-5
2-73678514-T-C p.Leu1619Leu synonymous ALMS1 1 82232 1.21607E-5 41116 0 NA
2-73678526-C-T p.Pro1623Pro synonymous ALMS1 3 82310 3.64476E-5 41155 0 3.18837E-5
2-73678539-C-T p.Arg1628Trp missense ALMS1 13 82318 1.57924E-4 41159 0 5.73614E-4
2-73678540-G-A p.Arg1628Gln missense ALMS1 1 82328 1.21465E-5 41164 0 1.60031E-4
2-73678542-C-T p.Gln1629* stop_gained ALMS1 1 82330 1.21462E-5 41165 0 NA
2-73678543-A-G p.Gln1629Arg missense ALMS1 1 82342 1.21445E-5 41171 0 NA
2-73678550-G-A p.Leu1631Leu synonymous ALMS1 1 82324 1.21471E-5 41162 0 NA
2-73678553-A-G p.Leu1632Leu synonymous ALMS1 2 82350 2.42866E-5 41175 0 NA
2-73678563-C-T p.Leu1636Leu synonymous ALMS1 1 82364 1.21412E-5 41182 0 3.19224E-5
2-73678567-A-G p.Asn1637Ser missense ALMS1 1 82396 1.21365E-5 41198 0 4.02703E-6
2-73678570-A-C p.Lys1638Thr missense ALMS1 1 82444 1.21294E-5 41222 0 NA
2-73678590-G-A p.Ala1645Thr missense ALMS1 1 82542 1.2115E-5 41271 0 NA
2-73678596-C-A p.Pro1647Thr missense ALMS1 2 82604 2.42119E-5 41302 0 2.81495E-5
2-73678602-C-T p.Pro1649Ser missense ALMS1 2 82622 2.42066E-5 41311 0 3.18451E-5
2-73678616-G-T p.Lys1653Asn missense ALMS1 1480 82692 0.0178977 41346 65 0.0323252
2-73678618-C-T p.Thr1654Ile missense ALMS1 1 82726 1.20881E-5 41363 0 NA
2-73678630-C-A p.Pro1658Gln missense ALMS1 5 82812 6.03777E-5 41406 1 6.42539E-5
2-73678641-A-G p.Thr1662Ala missense ALMS1 2 82892 2.41278E-5 41446 0 6.66322E-5
2-73678642-C-T p.Thr1662Ile missense ALMS1 69 82908 8.32248E-4 41454 0 0.0019454
2-73678658-G-C p.Arg1667Ser missense ALMS1 1 83004 1.20476E-5 41502 0 NA
2-73678669-T-C p.Val1671Ala missense ALMS1 1 83022 1.2045E-5 41511 0 4.01175E-6
2-73678681-A-G p.Gln1675Arg missense ALMS1 1 83076 1.20372E-5 41538 0 NA
2-73678689-C-G p.Leu1678Val missense ALMS1 5 83118 6.01554E-5 41559 0 2.48797E-5
2-73678689-C-T p.Leu1678Leu synonymous ALMS1