Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-125648119-C-T c.*76G>A splice_region ALG1L 1 77700 1.287E-5 38850 0 9.55292E-5
3-125648196-C-G p.Ter188Serext*? stop_lost ALG1L 1 78922 1.26707E-5 39461 0 NA
3-125648197-A-G p.Ter188Argext*? stop_lost ALG1L 4 78896 5.06997E-5 39448 0 3.82702E-4
3-125648203-G-T p.Pro186Thr missense ALG1L 2 79030 2.53068E-5 39515 0 3.18817E-5
3-125648209-C-T p.Gly184Ser missense ALG1L 14775 78464 0.188303 39232 1661 0.203723
3-125648217-T-A p.Glu181Val missense ALG1L 1 79110 1.26406E-5 39555 0 NA
3-125648219-C-T p.Ser180Ser synonymous ALG1L 158 79108 0.00199727 39554 1 0.00510172
3-125648220-GAGA-G p.Phe179del disruptive_inframe_deletion ALG1L 1 79124 1.26384E-5 39562 0 2.91963E-4
3-125648220-G-C p.Ser180Trp missense ALG1L 2 79124 2.52768E-5 39562 0 8.84737E-6
3-125648221-A-C p.Ser180Ala missense ALG1L 1 79138 1.26362E-5 39569 0 NA
3-125648226-A-C p.Phe178Cys missense ALG1L 2 79154 2.52672E-5 39577 0 4.28541E-6
3-125648232-C-T p.Arg176His missense ALG1L 1 79184 1.26288E-5 39592 0 1.28557E-5
3-125648233-G-A p.Arg176Cys missense ALG1L 10 79176 1.26301E-4 39588 0 1.2747E-4
3-125648233-G-T p.Arg176Ser missense ALG1L 1 79176 1.26301E-5 39588 0 8.84471E-6
3-125648248-G-T p.Pro171Thr missense ALG1L 3 79170 3.78931E-5 39585 0 3.18776E-5
3-125648250-T-C p.Asp170Gly missense ALG1L 1 79160 1.26326E-5 39580 0 4.41899E-5
3-125648251-C-T p.Asp170Asn missense ALG1L 9 79166 1.13685E-4 39583 1 5.65407E-4
3-125648252-C-T p.Arg169Arg synonymous ALG1L 3 79158 3.78989E-5 39579 0 4.28335E-6
3-125648253-C-T p.Arg169Gln missense ALG1L 1 79164 1.2632E-5 39582 0 9.56267E-5
3-125648254-G-A p.Arg169Trp missense ALG1L 16 79156 2.02132E-4 39578 0 0.00110132
3-125648257-G-C p.Pro168Ala missense ALG1L 1 79164 1.2632E-5 39582 0 3.18735E-5
3-125648261-T-C p.Leu166Leu synonymous ALG1L 1 79152 1.26339E-5 39576 0 8.56604E-6
3-125648262-A-G p.Leu166Pro missense ALG1L 1 79152 1.26339E-5 39576 0 3.18715E-5
3-125648274-A-T p.Leu162Gln missense ALG1L 4 79134 5.05472E-5 39567 0 9.55901E-5
3-125648279-T-A p.Gln160His missense ALG1L 1 79150 1.26342E-5 39575 0 NA
3-125648281-G-A p.Gln160* stop_gained ALG1L 7 79134 8.84576E-5 39567 0 6.05443E-4
3-125648281-G-T p.Gln160Lys missense ALG1L 1 79144 1.26352E-5 39572 0 1.28482E-5
3-125648283-A-G p.Ile159Thr missense ALG1L 14148 77054 0.183611 38527 1740 0.206437
3-125648290-T-C p.Met157Val missense ALG1L 1 79126 1.26381E-5 39563 0 8.82784E-6
3-125648293-C-T p.Val156Ile missense ALG1L 2 79126 2.52761E-5 39563 0 NA
3-125648296-A-G p.Leu155Leu synonymous ALG1L 1 79118 1.26393E-5 39559 0 NA
3-125648300-G-C p.Leu153Leu synonymous ALG1L 15 79118 1.8959E-4 39559 0 0.00111607
3-125648300-G-A p.Leu153Leu synonymous ALG1L 1 79122 1.26387E-5 39561 0 NA
3-125648302-G-T p.Leu153Ile missense ALG1L 4 79112 5.05612E-5 39556 0 8.56465E-6
3-125648311-G-A p.Gln150* stop_gained ALG1L 1 79104 1.26416E-5 39552 0 1.27397E-4
3-125648314-C-T p.Val149Met missense ALG1L 1 79100 1.26422E-5 39550 0 4.28233E-6
3-125648321-C-T p.Glu146Glu synonymous ALG1L 1 79098 1.26425E-5 39549 0 3.42621E-5
3-125648327-C-T p.Trp144* stop_gained ALG1L 4 79100 5.05689E-5 39550 0 1.28474E-5
3-125648329-A-G p.Trp144Arg missense ALG1L 1 79098 1.26425E-5 39549 0 NA
3-125648331-C-T p.Arg143Gln missense ALG1L 16 79098 2.02281E-4 39549 0 0.00241546
3-125648332-G-T p.Arg143Arg synonymous ALG1L 1 79108 1.26409E-5 39554 0 NA
3-125648332-G-A p.Arg143* stop_gained ALG1L 5 79108 6.32047E-5 39554 0 7.06502E-5
3-125648342-C-T p.Ser139Ser synonymous ALG1L 1 79102 1.26419E-5 39551 0 1.71267E-5
3-125648343-G-A p.Ser139Leu missense ALG1L 14853 78228 0.189868 39114 1766 0.206974
3-125648348-C-A p.Arg137Arg synonymous ALG1L 1 79114 1.264E-5 39557 0 8.83049E-6
3-125648349-C-T p.Arg137Gln missense ALG1L 4 79110 5.05625E-5 39555 0 5.64334E-4
3-125648350-G-A p.Arg137Trp missense ALG1L 10 79118 1.26393E-4 39559 0 3.18512E-5
3-125648350-G-C p.Arg137Gly missense ALG1L 1 79118 1.26393E-5 39559 0 NA
3-125648352-A-G p.Leu136Pro missense ALG1L 1 79126 1.26381E-5 39563 0 1.2845E-5
3-125648354-G-A p.Asn135Asn synonymous ALG1L 8 79136 1.01092E-4 39568 0 3.42524E-5
3-125648354-G-T p.Asn135Lys missense ALG1L 1 79136 1.26365E-5 39568 0 1.76619E-5
3-125648355-T-G p.Asn135Thr missense ALG1L 1 79134 1.26368E-5 39567 0 3.18715E-5
3-125648356-T-C p.Asn135Asp missense ALG1L 28249 78818 0.358408 39409 5212 0.383918
3-125648357-C-A p.Lys134Asn missense ALG1L 1 79134 1.26368E-5 39567 0 4.28167E-6
3-125648374-G-T p.Leu129Ile missense ALG1L 3 79126 3.79142E-5 39563 0 5.30513E-5
3-125648374-G-C p.Leu129Val missense ALG1L 1 79126 1.26381E-5 39563 0 4.28178E-6
3-125648383-C-T p.Ala126Thr missense ALG1L 2 79120 2.52781E-5 39560 0 5.74713E-4
3-125648384-A-G p.Pro125Pro synonymous ALG1L 6 79114 7.58399E-5 39557 0 0.00115207
3-125648386-G-A p.Pro125Ser missense ALG1L 1 79122 1.26387E-5 39561 0 1.063E-4
3-125648389-C-G p.Asp124His missense ALG1L 2 79106 2.52825E-5 39553 0 1.71378E-5
3-125648389-C-T p.Asp124Asn missense ALG1L 1 79106 1.26413E-5 39553 0 8.86148E-6
3-125648390-A-G p.Pro123Pro synonymous ALG1L 1 79098 1.26425E-5 39549 0 1.77267E-5
3-125648394-A-G p.Phe122Ser missense ALG1L 1 79086 1.26445E-5 39543 0 9.56023E-5
3-125648399-T-C p.Ser120Ser synonymous ALG1L 1 79068 1.26473E-5 39534 0 NA
3-125648401-A-G p.Ser120Pro missense ALG1L 2 79058 2.52979E-5 39529 0 8.89759E-6
3-125648403-A-G p.Phe119Ser missense ALG1L 1 79054 1.26496E-5 39527 0 2.6728E-5
3-125649393-T-C c.348+7A>G splice_region ALG1L 5 79784 6.26692E-5 39892 0 9.55779E-5
3-125649403-C-A p.Leu115Leu synonymous ALG1L 15159 79468 0.190756 39734 1745 0.201867
3-125649414-G-A p.Leu112Leu synonymous ALG1L 1 79912 1.25138E-5 39956 0 0.00198676
3-125649415-T-C p.Glu111Glu synonymous ALG1L 1 79910 1.25141E-5 39955 0 NA
3-125649426-C-T p.Asp108Asn missense ALG1L 1 80014 1.24978E-5 40007 0 2.57599E-5
3-125649429-C-G p.Glu107Gln missense ALG1L 1 80068 1.24894E-5 40034 0 NA
3-125649434-ACCAGG-A p.Val105fs frameshift ALG1L 1 80114 1.24822E-5 40057 0 NA
3-125649437-A-G p.Leu104Pro missense ALG1L 1 80140 1.24782E-5 40070 0 NA
3-125649439-G-T p.Gly103Gly synonymous ALG1L 373 80126 0.00465517 40063 3 0.00866518
3-125649442-A-G p.Asn102Asn synonymous ALG1L 1 80192 1.24701E-5 40096 0 5.88928E-4
3-125649452-T-A p.His99Leu missense ALG1L 3 80298 3.73608E-5 40149 0 3.42607E-5
3-125649452-T-C p.His99Arg missense ALG1L 2 80296 2.49078E-5 40148 0 1.71303E-5
3-125649455-T-C p.Lys98Arg missense ALG1L 1 80330 1.24486E-5 40165 0 1.71365E-5
3-125649463-C-G p.Glu95Asp missense ALG1L 1 80368 1.24428E-5 40184 0 NA
3-125649463-C-A p.Glu95Asp missense ALG1L 1 80368 1.24428E-5 40184 0 NA
3-125649467-T-C p.His94Arg missense ALG1L 1 80364 1.24434E-5 40182 0 5.88928E-4
3-125649476-C-A c.276-4G>T splice_region ALG1L 2 80308 2.49041E-5 40154 0 NA
3-125650485-T-G p.Lys91Gln missense ALG1L 1 81016 1.23432E-5 40508 0 6.3743E-5
3-125650494-C-T p.Val88Met missense ALG1L 1111 80934 0.0137272 40467 38 0.0293124
3-125650495-G-A p.Ala87Ala synonymous ALG1L 1 81010 1.23442E-5 40505 0 5.86854E-4
3-125650495-G-T p.Ala87Ala synonymous ALG1L 2 81016 2.46865E-5 40508 0 3.99869E-6
3-125650502-A-G p.Val85Ala missense ALG1L 286 81008 0.00353052 40504 2 0.00694577
3-125650507-C-T p.Leu83Leu synonymous ALG1L 2 81030 2.46822E-5 40515 0 8.41652E-6
3-125650518-C-T p.Gly80Arg missense ALG1L 21 81012 2.59221E-4 40506 0 0.00131234
3-125650519-G-A p.Phe79Phe synonymous ALG1L 2 81016 2.46865E-5 40508 0 6.56168E-4
3-125650522-C-A p.Met78Ile missense ALG1L 1 81024 1.2342E-5 40512 0 8.40449E-6
3-125650532-A-AC p.Val75fs frameshift ALG1L 1 81024 1.2342E-5 40512 0 8.4035E-6
3-125650533-C-T p.Val75Met missense ALG1L 1 81022 1.23423E-5 40511 0 NA
3-125650545-G-T p.Leu71Met missense ALG1L 9 81012 1.11095E-4 40506 0 1.59195E-4
3-125650550-AG-A p.Leu69fs frameshift ALG1L 3 81008 3.70334E-5 40504 0 0.00115875
3-125650551-G-C p.Leu69Val missense ALG1L 2 81008 2.46889E-5 40504 0 3.18532E-5
3-125650552-G-C p.Gly68Gly synonymous ALG1L 1 80996 1.23463E-5 40498 0 NA
3-125650562-G-A p.Ser65Phe missense ALG1L 261 80978 0.0032231 40489 1 0.00668832
3-125650563-A-T p.Ser65Thr missense ALG1L 1 80992 1.23469E-5 40496 0 NA
3-125650565-A-G p.Met64Thr missense ALG1L 4 80986 4.93913E-5 40493 0 7.57448E-5
3-125650565-A-T p.Met64Lys missense ALG1L 1 80986 1.23478E-5 40493 0 NA
3-125650566-T-G p.Met64Leu missense ALG1L 1 80986 1.23478E-5 40493 0 0.00116009
3-125650569-G-C p.His63Asp missense ALG1L 2 80978 2.46981E-5 40489 0 6.73571E-5
3-125650569-G-A p.His63Tyr missense ALG1L 1 80978 1.2349E-5 40489 0 8.41963E-6
3-125650573-A-T p.Cys61* stop_gained ALG1L 1 80976 1.23493E-5 40488 0 8.42375E-6
3-125650591-C-A p.Ser55Ser synonymous ALG1L 2 80920 2.47158E-5 40460 0 3.18593E-5
3-125650592-G-A p.Ser55Leu missense ALG1L 8 80908 9.88777E-5 40454 0 1.27462E-4
3-125651487-C-T c.160+6G>A splice_region ALG1L 2 80022 2.49931E-5 40011 0 8.23845E-6
3-125651488-G-A c.160+5C>T splice_region ALG1L 2 80034 2.49894E-5 40017 0 6.64011E-4
3-125651495-G-A p.Thr53Ile missense+splice_region ALG1L 521 80202 0.0064961 40101 5 0.0128172
3-125651504-C-T p.Cys50Tyr missense ALG1L 1 80276 1.2457E-5 40138 0 8.23791E-6
3-125651525-T-G p.His43Pro missense ALG1L 1 80398 1.24381E-5 40199 0 NA
3-125651528-C-T p.Gly42Glu missense ALG1L 1 80432 1.24329E-5 40216 0 7.96419E-6
3-125651529-C-T p.Gly42Arg missense ALG1L 1 80456 1.24292E-5 40228 0 NA
3-125651537-G-C p.Thr39Ser missense ALG1L 1 80366 1.24431E-5 40183 0 1.19468E-5
3-125651548-A-G p.Phe35Phe synonymous ALG1L 4 80352 4.9781E-5 40176 1 NA
3-125651552-T-C p.Glu34Gly missense+splice_region ALG1L 3 80252 3.73822E-5 40126 0 8.24212E-6
3-125651552-T-G p.Glu34Ala missense+splice_region ALG1L 3 80252 3.73822E-5 40126 0 3.21378E-5
3-125652410-G-A c.100+8C>T splice_region ALG1L 5 78490 6.37024E-5 39245 0 6.37918E-5
3-125652411-T-C c.100+7A>G splice_region ALG1L 706 78554 0.00898745 39277 24 0.0171314
3-125652412-G-C c.100+6C>G splice_region ALG1L 1 78576 1.27265E-5 39288 0 NA
3-125652415-G-C c.100+3C>G splice_region ALG1L 1 78634 1.27171E-5 39317 0 NA
3-125652416-A-T c.100+2T>A splice_donor ALG1L 2 78606 2.54434E-5 39303 0 4.05262E-6
3-125652416-A-G c.100+2T>C splice_donor ALG1L 3 78606 3.8165E-5 39303 0 4.05262E-6
3-125652417-C-A c.100+1G>T splice_donor ALG1L 6 78682 7.62563E-5 39341 0 6.25E-4
3-125652418-C-T p.Glu34Lys missense+splice_region ALG1L 1 78654 1.27139E-5 39327 0 NA
3-125652424-A-G p.Trp32Arg missense ALG1L 2 78700 2.5413E-5 39350 0 5.92417E-4
3-125652428-C-T p.Thr30Thr synonymous ALG1L 17 78710 2.15983E-4 39355 0 0.001875
3-125652428-C-A p.Thr30Thr synonymous ALG1L 1 78710 1.27049E-5 39355 0 8.90504E-6
3-125652429-G-A p.Thr30Met missense ALG1L 5 78700 6.35324E-5 39350 0 9.56206E-5
3-125652441-A-G p.Leu26Pro missense ALG1L 2 78936 2.5337E-5 39468 0 4.39491E-5
3-125652447-G-T p.Ala24Asp missense ALG1L 1 78954 1.26656E-5 39477 0 8.78796E-6
3-125652451-G-A p.Pro23Ser missense ALG1L 1 79564 1.25685E-5 39782 0 NA
3-125652457-C-G p.Glu21Gln missense ALG1L 2 79854 2.50457E-5 39927 0 NA
3-125652457-C-A p.Glu21* stop_gained ALG1L 3 79854 3.75686E-5 39927 0 2.57829E-5
3-125652458-G-A p.Arg20Arg synonymous ALG1L 7 79868 8.76446E-5 39934 0 6.81112E-5
3-125652459-C-T p.Arg20His missense ALG1L 8 79962 1.00048E-4 39981 0 9.56389E-5
3-125652465-T-C p.His18Arg missense ALG1L 1 80166 1.24741E-5 40083 0 4.0001E-6
3-125652471-A-G p.Val16Ala missense ALG1L 6 80322 7.46993E-5 40161 0 1.70471E-5
3-125652476-C-T p.Arg14Arg synonymous ALG1L 2 80482 2.48503E-5 40241 0 3.18654E-5
3-125652483-C-T p.Gly12Glu missense ALG1L 1 80576 1.24106E-5 40288 0 3.18613E-5
3-125652490-C-T p.Asp10Asn missense ALG1L 5 80594 6.20394E-5 40297 0 3.59428E-5
3-125652492-A-G p.Leu9Pro missense ALG1L 1 80618 1.24042E-5 40309 0 NA
3-125652493-G-A p.Leu9Leu synonymous ALG1L 1 80640 1.24008E-5 40320 0 NA
3-125652499-T-A p.Met7Leu missense ALG1L 369 80668 0.0045743 40334 6 0.00864048
3-125652499-T-C p.Met7Val missense ALG1L 17 80680 2.10709E-4 40340 0 3.18837E-4
3-125652500-G-C p.Phe6Leu missense ALG1L 3 80690 3.71793E-5 40345 0 NA
3-125652501-A-C p.Phe6Cys missense ALG1L 1 80690 1.23931E-5 40345 0 NA
3-125652505-C-T p.Ala5Thr missense ALG1L 1 80636 1.24014E-5 40318 0 NA
3-125652506-C-T p.Ser4Ser synonymous ALG1L 10 80614 1.24048E-4 40307 0 5.31579E-4
3-125652507-G-A p.Ser4Leu missense ALG1L 3 80646 3.71996E-5 40323 0 1.71931E-5
3-125652510-C-T p.Arg3Gln missense ALG1L 5 80624 6.20163E-5 40312 0 9.55779E-5
3-125652511-G-A p.Arg3Trp missense ALG1L 5 80624 6.20163E-5 40312 0 5.1985E-5
3-125652514-C-A p.Glu2* stop_gained ALG1L 1 80674 1.23956E-5 40337 0 NA
3-125652515-C-T p.Met1? start_lost ALG1L 2 80684 2.47881E-5 40342 0 7.99687E-6
3-125652517-T-C p.Met1? start_lost ALG1L 4 80624 4.9613E-5 40312 0 5.79374E-4
3-125652524-G-A c.-7C>T 5_prime_UTR_premature_start_codon_gain ALG1L 2 80514 2.48404E-5 40257 0 3.52479E-5
3-125652537-G-A c.-20C>T splice_region ALG1L 6 80232 7.47831E-5 40116 0 3.17495E-4