Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-110924386-G-T c.-373G>T 5_prime_UTR_premature_start_codon_gain ALG13 52 80028 6.49773E-4 40014 8 8.33179E-4
X-110924409-A-G c.-350A>G 5_prime_UTR_premature_start_codon_gain ALG13 2 82062 2.43718E-5 41031 1 1.09746E-5
X-110924425-C-G c.-334C>G 5_prime_UTR_premature_start_codon_gain ALG13 1 82570 1.21109E-5 41285 0 5.48195E-6
X-110924431-T-C c.-328T>C 5_prime_UTR_premature_start_codon_gain ALG13 2 82684 2.41885E-5 41342 1 5.4678E-6
X-110924456-G-A p.Val4Met missense ALG13 1 82924 1.20592E-5 41462 0 5.46203E-6
X-110924459-T-C p.Phe5Leu missense ALG13 3 82936 3.61725E-5 41468 1 1.37571E-4
X-110924495-A-G p.Ile17Val missense ALG13 1 82768 1.2082E-5 41384 0 5.45971E-6
X-110924520-G-A p.Ser25Asn missense ALG13 2 82548 2.42283E-5 41274 1 NA
X-110924657-C-CGCT n.189+5_189+6insGCT splice_region ALG13 1 75448 1.32542E-5 37724 0 NA
X-110924658-G-A n.189+6G>A splice_region ALG13 3 75268 3.98576E-5 37634 0 NA
X-110925052-C-G n.162C>G splice_region ALG13 5 26796 1.86595E-4 13398 2 4.60087E-5
X-110925053-A-G n.163A>G splice_region ALG13 3 26826 1.11832E-4 13413 1 NA
X-110925360-A-C p.Lys28Gln missense+splice_region ALG13 1 79718 1.25442E-5 39859 0 NA
X-110925382-A-G p.Asn35Ser missense ALG13 9 80988 1.11128E-4 40494 2 6.89655E-4
X-110925386-A-G p.Arg36Arg synonymous ALG13 20 81134 2.46506E-4 40567 5 0.005
X-110925391-T-G p.Ile38Ser missense ALG13 1 81208 1.23141E-5 40604 0 NA
X-110925428-C-T p.Pro50Pro synonymous ALG13 18 82000 2.19512E-4 41000 5 0.0025
X-110925437-T-C p.Thr53Thr synonymous ALG13 1 81968 1.21999E-5 40984 0 NA
X-110925442-C-T p.Ser55Leu missense ALG13 1 81862 1.22157E-5 40931 0 NA
X-110925461-C-T n.234-3C>T splice_region ALG13 696 81498 0.00854009 40749 180 0.00894893
X-110925483-G-A p.Glu69Lys missense ALG13 1 81148 1.23232E-5 40574 0 NA
X-110925485-A-C p.Glu69Asp missense ALG13 2 81070 2.467E-5 40535 1 1.79056E-5
X-110925524-T-TGCAGGAAGCTGTTTGGAGACTCTGGAAAAAGG c.-69+2_-69+3insGCAGGAAGCTGTTTGGAGACTCTGGAAAAAGG splice_region ALG13 2 80392 2.48781E-5 40196 1 NA
X-110925528-G-A c.-69+6G>A splice_region ALG13 1 80118 1.24816E-5 40059 0 NA
X-110928221-A-G p.Glu91Glu synonymous ALG13 1 82584 1.21089E-5 41292 0 1.12346E-5
X-110928236-C-T c.-25C>T 5_prime_UTR_premature_start_codon_gain ALG13 6 82626 7.26164E-5 41313 2 4.56522E-5
X-110928242-G-A p.Val98Val synonymous ALG13 1 82680 1.20948E-5 41340 0 NA
X-110928251-C-T c.-10C>T 5_prime_UTR_premature_start_codon_gain ALG13 2 82704 2.41826E-5 41352 0 4.56371E-5
X-110928261-A-G p.Met1? start_lost ALG13 2 82750 2.41692E-5 41375 1 NA
X-110928268-A-G p.Asn3Ser missense ALG13 3 82740 3.62582E-5 41370 0 NA
X-110928302-A-G p.Lys14Lys synonymous ALG13 1 82468 1.21259E-5 41234 0 NA
X-110928303-G-C p.Glu15Gln missense ALG13 2 82460 2.42542E-5 41230 0 NA
X-110928308-T-C p.Gly16Gly synonymous ALG13 1 82332 1.21459E-5 41166 0 1.16935E-4
X-110928309-C-T p.His17Tyr missense ALG13 1 82324 1.21471E-5 41162 0 1.1409E-5
X-110928319-A-G p.Tyr20Cys missense ALG13 10 81982 1.21978E-4 40991 3 1.82607E-4
X-110928320-T-C p.Tyr20Tyr synonymous ALG13 1 81984 1.21975E-5 40992 0 1.14132E-5
X-110928325-C-A p.Thr22Asn missense ALG13 1 81760 1.22309E-5 40880 0 5.66232E-6
X-110928328-G-T p.Cys23Phe missense ALG13 2 81606 2.4508E-5 40803 1 NA
X-110929358-C-T n.414-7C>T splice_region ALG13 1 72902 1.3717E-5 36451 0 1.34982E-5
X-110929360-A-G n.414-5A>G splice_region ALG13 191 72924 0.00261917 36462 37 0.00671357
X-110929360-ATTAG-A n.414-4_414-1delTTAG splice_acceptor ALG13 5 72926 6.85627E-5 36463 2 NA
X-110929364-G-A n.414-1G>A splice_acceptor ALG13 48 73078 6.56832E-4 36539 13 5.86281E-4
X-110931117-C-T p.Thr129Met missense+splice_region ALG13 1 79796 1.2532E-5 39898 0 8.99483E-5
X-110931118-G-A p.Thr129Thr synonymous ALG13 1 79790 1.25329E-5 39895 0 4.70655E-5
X-110931125-G-C p.Gly132Arg missense ALG13 1 80154 1.2476E-5 40077 0 NA
X-110931133-A-G p.Leu134Leu synonymous ALG13 1 80674 1.23956E-5 40337 0 NA
X-110931156-T-G p.Leu142Arg missense ALG13 3 80804 3.71269E-5 40402 1 NA
X-110931158-A-C p.Lys143Gln missense ALG13 5 80840 6.18506E-5 40420 1 1.28349E-4
X-110931223-A-G p.Gln164Gln synonymous ALG13 2 80272 2.49153E-5 40136 0 NA
X-110931263-C-CA n.618dupA splice_region ALG13 2 76956 2.59889E-5 38478 0 NA
X-110932426-G-A n.471+1G>A splice_donor ALG13 1 22892 4.36834E-5 11446 0 NA
X-110951247-T-C c.72-8T>C splice_region ALG13 2 77568 2.57838E-5 38784 1 6.2803E-6
X-110951250-C-T c.72-5C>T splice_region ALG13 3 77662 3.86289E-5 38831 0 3.57439E-4
X-110951273-G-A p.Gly30Gly synonymous ALG13 1 78340 1.27649E-5 39170 0 NA
X-110951282-G-GT p.Ser34fs frameshift ALG13 2 78686 2.54175E-5 39343 1 NA
X-110951288-T-C p.Ile35Ile synonymous ALG13 8 78816 1.01502E-4 39408 1 0.00125
X-110951312-A-G p.Gln43Gln synonymous ALG13 4 79100 5.05689E-5 39550 2 2.24897E-5
X-110951314-A-AT p.Ser45fs frameshift ALG13 1 79122 1.26387E-5 39561 0 1.03093E-4
X-110951323-C-T p.Ala47Val missense ALG13 2 79222 2.52455E-5 39611 1 NA
X-110951357-T-C p.Phe58Phe synonymous ALG13 1 79510 1.2577E-5 39755 0 3.53145E-5
X-110951367-TC-T p.Gly63fs frameshift ALG13 1 79544 1.25717E-5 39772 0 NA
X-110951370-G-A p.Gly63Arg missense ALG13 2 79578 2.51326E-5 39789 0 2.79043E-5
X-110951387-A-G p.Gln68Gln synonymous ALG13 1 79644 1.25559E-5 39822 0 NA
X-110951389-C-G p.Ala69Gly missense ALG13 2 79652 2.51092E-5 39826 1 4.5583E-5
X-110951407-A-G p.His75Arg missense ALG13 2 79686 2.50985E-5 39843 1 NA
X-110951412-A-T p.Thr77Ser missense ALG13 2 79672 2.51029E-5 39836 0 NA
X-110951438-C-T p.Cys85Cys synonymous ALG13 2 79658 2.51073E-5 39829 1 NA
X-110951459-T-G p.Pro92Pro synonymous ALG13 1 79644 1.25559E-5 39822 0 2.2313E-5
X-110951477-C-A p.Tyr98* stop_gained ALG13 4 79620 5.02386E-5 39810 1 NA
X-110951500-A-AAAGCGTGG p.Asn106fs frameshift ALG13 1 79568 1.25679E-5 39784 0 NA
X-110951502-T-A p.Tyr107Asn missense ALG13 2 79566 2.51364E-5 39783 0 NA
X-110951503-A-AGAGGGAAAAAG p.Tyr107fs frameshift ALG13 1 79560 1.25691E-5 39780 0 NA
X-110951503-A-G p.Tyr107Cys missense ALG13 1 79560 1.25691E-5 39780 0 NA
X-110951504-C-CAGGG p.Cys108fs frameshift ALG13 1 79576 1.25666E-5 39788 0 NA
X-110951509-G-A p.Ser109Asn missense ALG13 30 79568 3.77036E-4 39784 6 1.36172E-4
X-110951510-CC-GT p.SerGln109* stop_gained ALG13 1 79570 1.25676E-5 39785 0 NA
X-110951517-T-C p.Ser112Pro missense ALG13 1 79580 1.2566E-5 39790 0 NA
X-110951524-A-G p.Asn114Ser missense ALG13 1 79574 1.25669E-5 39787 0 NA
X-110951535-A-G p.Met118Val missense ALG13 5 79510 6.28852E-5 39755 2 1.15488E-5
X-110951552-C-T p.Gly123Gly synonymous ALG13 2 79488 2.5161E-5 39744 1 NA
X-110951567-T-C p.Phe128Phe synonymous ALG13 2 79406 2.5187E-5 39703 1 3.48214E-5
X-110951623-TA-T c.438+3delA splice_region ALG13 5 78802 6.34502E-5 39401 1 1.21016E-5
X-110952198-T-G p.Phe148Leu missense ALG13 5 76688 6.51993E-5 38344 2 6.85077E-6
X-110952225-C-A p.Ile157Ile synonymous ALG13 1 77226 1.2949E-5 38613 0 NA
X-110952261-A-G p.Gln169Gln synonymous ALG13 1 76714 1.30354E-5 38357 0 3.21419E-5
X-110952279-A-G c.522+3A>G splice_region ALG13 2 75864 2.6363E-5 37932 0 7.06889E-5
X-110954905-T-C p.Tyr175Tyr splice_region+synonymous ALG13 2 77064 2.59525E-5 38532 1 5.73161E-6
X-110954923-G-A p.Glu181Glu synonymous ALG13 1 77282 1.29396E-5 38641 0 NA
X-110954937-G-A p.Arg186Gln missense ALG13 2 76942 2.59936E-5 38471 1 NA
X-110954938-G-A p.Arg186Arg synonymous ALG13 1 77026 1.29826E-5 38513 0 1.21881E-5
X-110955715-A-G p.Ser193Gly missense ALG13 2 73678 2.71451E-5 36839 1 4.57854E-5
X-110955746-C-A p.Ser203Tyr missense ALG13 1 73664 1.35752E-5 36832 0 NA
X-110955751-A-G p.Ile205Val missense ALG13 1 73492 1.36069E-5 36746 0 6.00453E-6
X-110956449-A-G p.Tyr1Cys missense ALG13 2 74476 2.68543E-5 37238 1 9.13534E-5
X-110956456-G-T p.Arg208Arg synonymous ALG13 2 74940 2.6688E-5 37470 1 NA
X-110956472-C-G p.Arg214Gly missense ALG13 2 75410 2.65217E-5 37705 1 4.56225E-5
X-110956472-C-T p.Arg214Cys missense ALG13 1 75410 1.32608E-5 37705 0 4.50603E-5
X-110956473-G-A p.Arg214His missense ALG13 2 75342 2.65456E-5 37671 0 8.92419E-5
X-110956475-T-A p.Phe215Ile missense ALG13 1 75582 1.32307E-5 37791 0 NA
X-110956478-C-G p.Pro216Ala missense ALG13 2 75598 2.64557E-5 37799 1 2.18771E-5
X-110956494-C-T p.Thr221Ile missense ALG13 1 75600 1.32275E-5 37800 0 NA
X-110956495-T-G p.Thr221Thr synonymous ALG13 20 75570 2.64655E-4 37785 2 2.13324E-4
X-110956497-A-G p.Tyr222Cys missense ALG13 1 75374 1.32672E-5 37687 0 NA
X-110956504-A-G p.Thr224Thr synonymous ALG13 1 75288 1.32823E-5 37644 0 6.17524E-6
X-110956511-G-A p.Gly227Ser missense ALG13 1 74940 1.3344E-5 37470 0 NA
X-110956515-A-G p.Tyr228Cys missense ALG13 1 74588 1.3407E-5 37294 0 6.23935E-6
X-110956523-A-C p.Lys231Gln missense+splice_region ALG13 1 74354 1.34492E-5 37177 0 2.26009E-5
X-110956529-A-G c.693+4A>G splice_region ALG13 3 73972 4.05559E-5 36986 1 9.18527E-5
X-110961078-T-A p.Leu233Gln missense ALG13 3 76722 3.91022E-5 38361 1 6.11284E-6
X-110961088-C-T p.Tyr236Tyr synonymous ALG13 2 77320 2.58665E-5 38660 1 NA
X-110961096-G-A p.Ser239Asn missense ALG13 1 77632 1.28813E-5 38816 0 1.16001E-5
X-110961097-T-C p.Ser239Ser synonymous ALG13 1 77640 1.288E-5 38820 0 4.60257E-5
X-110961334-C-A c.776-6C>A splice_region ALG13 1 77790 1.28551E-5 38895 0 NA
X-110961341-T-C p.Ala259Ala splice_region+synonymous ALG13 2 77944 2.56594E-5 38972 1 9.13159E-5
X-110961350-C-T p.Tyr262Tyr synonymous ALG13 3 78008 3.84576E-5 39004 1 NA
X-110961395-G-A p.Leu277Leu synonymous ALG13 4 78722 5.08117E-5 39361 1 NA
X-110961404-G-A p.Ala280Ala synonymous ALG13 207 78710 0.00262991 39355 42 0.00691443
X-110961410-A-G p.Lys282Lys synonymous ALG13 1 78766 1.26958E-5 39383 0 NA
X-110961461-C-T p.Ser299Ser synonymous ALG13 3 78708 3.81156E-5 39354 1 9.23702E-5
X-110961469-C-T p.Ala302Val missense ALG13 1 78668 1.27116E-5 39334 0 0.0021322
X-110961475-C-T p.Thr304Ile missense ALG13 1 78646 1.27152E-5 39323 0 6.58562E-6
X-110961498-A-G p.Asn312Asp missense ALG13 4 78390 5.10269E-5 39195 1 6.96301E-6
X-110961503-G-GA c.938+1_938+2insA splice_donor ALG13 2 78216 2.55702E-5 39108 1 NA
X-110963338-T-C p.Gly318Gly synonymous ALG13 1135 75242 0.0150847 37621 272 0.0186232
X-110963365-A-G p.Pro327Pro synonymous ALG13 4095 75668 0.054118 37834 1129 0.0965138
X-110963376-A-G p.Asn331Ser missense ALG13 3 75482 3.97446E-5 37741 1 6.26566E-4
X-110963377-T-G p.Asn331Lys missense ALG13 1 75372 1.32675E-5 37686 0 6.68137E-6
X-110963380-A-G p.Lys332Lys synonymous ALG13 2 75352 2.65421E-5 37676 1 NA
X-110963385-C-A p.Thr334Lys missense ALG13 8 75134 1.06476E-4 37567 2 1.37785E-4
X-110963398-G-GAACTTCAAAAATCTGATTACATGGAGTATGCTGGGAGACA c.1014_1014+1insAACTTCAAAAATCTGATTACATGGAGTATGCTGGGAGACA splice_donor ALG13 1 74192 1.34785E-5 37096 0 NA
X-110964892-A-G p.Glu359Gly missense ALG13 4 76272 5.24439E-5 38136 1 2.3182E-5
X-110964939-G-GAACTTCAAAAATCTGATTACATGGAGTATGCTGGGAGACA c.1123_1123+1insAACTTCAAAAATCTGATTACATGGAGTATGCTGGGAGACA splice_donor ALG13 1 75104 1.33149E-5 37552 0 NA
X-110964944-A-T c.1123+5A>T splice_region ALG13 9519 74508 0.127758 37254 3712 0.233389
X-110966017-A-G c.1124-4A>G splice_region ALG13 2 74400 2.68817E-5 37200 1 NA
X-110966027-A-C p.Gln377Pro missense ALG13 2 75056 2.66468E-5 37528 1 NA
X-110966061-G-C p.Gln388His missense ALG13 1 75770 1.31978E-5 37885 0 2.41185E-5
X-110966061-G-A p.Gln388Gln synonymous ALG13 3 75770 3.95935E-5 37885 1 NA
X-110966088-T-TTGCTTGGAATCAGAAGGAAGATATTATAATGCTC c.1188+3_1188+4insTGCTTGGAATCAGAAGGAAGATATTATAATGCTC splice_region ALG13 1 75288 1.32823E-5 37644 0 NA
X-110967032-T-A p.Leu399Met missense ALG13 3 74920 4.00427E-5 37460 1 NA
X-110967051-A-G p.Tyr405Cys missense ALG13 1 75948 1.31669E-5 37974 0 NA
X-110967115-A-AACATTTTTTTT p.Leu427fs frameshift ALG13 1 75118 1.33124E-5 37559 0 NA
X-110967116-T-C p.Leu427Leu synonymous ALG13 38 75078 5.0614E-4 37539 8 0.00285307
X-110967121-G-A p.Ala428Ala synonymous ALG13 4 74552 5.36538E-5 37276 1 NA
X-110967130-G-A c.1289+4G>A splice_region ALG13 1 73694 1.35696E-5 36847 0 NA
X-110968192-A-C p.Pro440Pro synonymous ALG13 1 79366 1.25999E-5 39683 0 1.15749E-5
X-110968198-C-T p.Thr442Thr synonymous ALG13 1 79358 1.26011E-5 39679 0 NA
X-110968200-A-C p.Gln443Pro missense ALG13 3 79388 3.77891E-5 39694 1 NA
X-110968202-G-A p.Val444Met missense ALG13 3 79384 3.7791E-5 39692 1 NA
X-110968231-G-T p.Met453Ile missense ALG13 7 79446 8.81102E-5 39723 3 0.00212465
X-110968272-G-A p.Gly467Asp missense ALG13 2 79356 2.52029E-5 39678 1 NA
X-110968280-C-T p.Pro470Ser missense ALG13 1 79326 1.26062E-5 39663 0 NA
X-110968282-G-A p.Pro470Pro synonymous ALG13 5 79304 6.30485E-5 39652 2 1.18252E-5
X-110968289-G-GTTATATCAGAGATGGACATAAAGCAACAGAAGAAGATGTTCAAGAAAATTCGA c.1417_1417+1insTTATATCAGAGATGGACATAAAGCAACAGAAGAAGATGTTCAAGAAAATTCGA splice_donor ALG13 7 79282 8.82924E-5 39641 2 NA
X-110970034-A-T c.1418-3A>T splice_region ALG13 2 79082 2.52902E-5 39541 1 5.58369E-6
X-110970038-TA-AG p.ValIle473ValVal missense+splice_region ALG13 1 79150 1.26342E-5 39575 0 NA
X-110970039-A-G p.Ile474Val missense+splice_region ALG13 1 79160 1.26326E-5 39580 0 1.16305E-5
X-110970040-T-TACTAG p.Ser475fs frameshift ALG13 1 79164 1.2632E-5 39582 0 NA
X-110970040-T-C p.Ile474Thr missense ALG13 1 79164 1.2632E-5 39582 0 1.16259E-5
X-110970048-A-G p.Met477Val missense ALG13 2 79224 2.52449E-5 39612 1 1.67467E-5
X-110970074-G-A p.Met485Ile missense ALG13 1 79252 1.2618E-5 39626 0 NA
X-110970088-G-A p.Arg490Gln missense ALG13 2 79236 2.52411E-5 39618 1 2.30824E-5
X-110970105-A-G p.Met496Val missense ALG13 2 79290 2.52239E-5 39645 0 1.15411E-4
X-110970111-A-G p.Met498Val missense ALG13 1 79292 1.26116E-5 39646 0 3.46232E-5
X-110970120-G-A p.Gly501Ser missense ALG13 3 79256 3.7852E-5 39628 1 4.592E-5
X-110970125-G-A p.Lys502Lys synonymous ALG13 1 79270 1.26151E-5 39635 0 1.0387E-4
X-110970127-G-A p.Gly503Glu missense ALG13 1 79260 1.26167E-5 39630 0 NA
X-110970129-G-C p.Asp504His missense ALG13 2 79252 2.5236E-5 39626 0 4.59369E-5
X-110970131-C-T p.Asp504Asp synonymous ALG13 4 79256 5.04694E-5 39628 1 1.15405E-5
X-110970138-C-T p.Leu507Phe missense ALG13 8 79288 1.00898E-4 39644 0 8.0781E-5
X-110970138-C-G p.Leu507Val missense ALG13 2 79288 2.52245E-5 39644 0 4.61606E-5
X-110970141-C-T p.Pro508Ser missense ALG13 3 79280 3.78406E-5 39640 1 7.81224E-5
X-110970145-CC-AG p.Pro509Gln missense ALG13 1 79260 1.26167E-5 39630 0 NA
X-110970148-G-C p.Arg510Thr missense ALG13 2 79264 2.52321E-5 39632 1 1.15403E-5
X-110970150-C-T p.Leu511Leu synonymous ALG13 21 79254 2.64971E-4 39627 2 5.47221E-4
X-110970160-G-C p.Ser514Thr missense ALG13 2 79258 2.5234E-5 39629 1 5.58026E-6
X-110970176-C-T p.His519His synonymous ALG13 2 79184 2.52576E-5 39592 0 1.15405E-5
X-110970186-A-G p.Met523Val missense ALG13 1 79180 1.26295E-5 39590 0 2.79047E-5
X-110970190-A-G p.His524Arg missense ALG13 5 79146 6.31744E-5 39573 2 7.08717E-4
X-110970195-T-C p.Ser526Pro missense ALG13 1 79120 1.2639E-5 39560 0 NA
X-110970196-C-T p.Ser526Leu missense ALG13 2 79122 2.52774E-5 39561 1 NA
X-110970200-G-A p.Gln527Gln synonymous ALG13 1 79110 1.26406E-5 39555 0 NA
X-110970219-T-G p.Ser534Ala missense ALG13 6 78936 7.60109E-5 39468 1 5.58251E-6
X-110970228-C-G p.His537Asp missense ALG13 5 78804 6.34486E-5 39402 2 1.15444E-5
X-110970241-A-C p.Gln541Pro missense ALG13 1 78602 1.27223E-5 39301 0 1.15472E-5
X-110970253-C-T p.Pro545Leu missense ALG13 2 78344 2.55284E-5 39172 1 1.15564E-5
X-110970254-G-A p.Pro545Pro synonymous ALG13 1 78308 1.27701E-5 39154 0 1.15579E-5
X-110970262-G-A p.Gly548Asp missense ALG13 2 78150 2.55918E-5 39075 1 9.1416E-5
X-110970265-G-A p.Arg549Gln missense ALG13 4 77960 5.13084E-5 38980 1 4.58316E-5
X-110970269-A-G p.Gly550Gly synonymous ALG13 2 77842 2.56931E-5 38921 1 NA
X-110970571-G-A p.Arg559Gln missense ALG13 2 77924 2.5666E-5 38962 1 5.7616E-6
X-110970581-C-T p.Asn562Asn synonymous ALG13 4 78264 5.11091E-5 39132 0 NA
X-110970595-C-T p.Pro567Leu missense ALG13 6 78454 7.64779E-5 39227 2 8.3182E-5
X-110970596-G-A p.Pro567Pro synonymous ALG13 4 78480 5.09684E-5 39240 0 2.99577E-4
X-110970620-A-C p.Pro575Pro synonymous ALG13 1 78592 1.27239E-5 39296 0 NA
X-110970621-G-A p.Gly576Ser missense ALG13 6 78550 7.63845E-5 39275 2 2.25716E-5
X-110970637-G-A p.Cys581Tyr missense ALG13 3 78584 3.81757E-5 39292 1 5.67595E-6
X-110970638-C-T p.Cys581Cys synonymous ALG13 1 78602 1.27223E-5 39301 0 NA
X-110970653-T-C p.Asp586Asp synonymous ALG13 7 78518 8.91515E-5 39259 2 4.58542E-5
X-110970661-C-T p.Ser589Phe missense ALG13 1 78492 1.27402E-5 39246 0 5.77211E-6
X-110970665-T-C p.Tyr590Tyr synonymous ALG13 9 78408 1.14784E-4 39204 2 2.33794E-5
X-110970673-G-GTTCATTTAGAC c.1778_1778+1insTTCATTTAGAC splice_donor ALG13 1 78160 1.27943E-5 39080 0 NA
X-110970851-A-G p.Arg596Arg synonymous ALG13 2 79332 2.52105E-5 39666 1 5.95696E-6
X-110970853-G-A p.Arg597His missense ALG13 1 79306 1.26094E-5 39653 0 7.08215E-4
X-110970861-C-T p.Arg600Cys missense ALG13 2 79382 2.51946E-5 39691 1 2.86558E-5
X-110970863-C-T p.Arg600Arg synonymous ALG13 2 79398 2.51896E-5 39699 1 2.82785E-5
X-110970924-C-T p.Pro621Ser missense ALG13 2 79388 2.51927E-5 39694 1 NA
X-110970964-A-G p.Glu634Gly missense ALG13 3 79120 3.79171E-5 39560 1 9.12992E-5
X-110970998-T-TAATCATGGAGGTCCCTCTACAATGGTTCCTGCTACTTCAG c.1935_1935+1insAATCATGGAGGTCCCTCTACAATGGTTCCTGCTACTTCAG splice_donor ALG13 1 77904 1.28363E-5 38952 0 NA
X-110970998-T-TAATCATGGAGGTCCCTCTACAATGGTTCCTGCTACTTCA c.1935_1935+1insAATCATGGAGGTCCCTCTACAATGGTTCCTGCTACTTCA splice_donor ALG13 2 77904 2.56726E-5 38952 1 NA
X-110971409-A-G c.1936-4A>G splice_region ALG13 269 78558 0.00342422 39279 74 0.009375
X-110971410-C-T c.1936-3C>T splice_region ALG13 1 78574 1.27269E-5 39287 0 NA
X-110971421-A-C p.Gly648Gly synonymous ALG13 1 78720 1.27033E-5 39360 0 NA
X-110971431-A-G p.Thr652Ala missense ALG13 10 78832 1.26852E-4 39416 2 0.00141945
X-110971433-A-G p.Thr652Thr synonymous ALG13 1 78864 1.26801E-5 39432 0 5.59046E-6
X-110971443-G-T p.Ala656Ser missense ALG13 1 78950 1.26662E-5 39475 0 3.19882E-4
X-110971453-G-C p.Gly659Ala missense ALG13 1 79054 1.26496E-5 39527 0 NA
X-110971467-A-T p.Arg664Trp missense ALG13 2 79128 2.52755E-5 39564 1 5.59168E-6
X-110971469-G-A p.Arg664Arg synonymous ALG13 2 79106 2.52825E-5 39553 0 1.18811E-5
X-110971471-G-C p.Arg665Pro missense ALG13 2 79140 2.52717E-5 39570 1 NA
X-110971474-G-A p.Gly666Glu missense ALG13 13 79152 1.64241E-4 39576 3 1.06219E-4
X-110971476-C-T p.His667Tyr missense ALG13 1 79178 1.26298E-5 39589 0 NA
X-110971489-A-G p.Lys671Arg missense ALG13 6 79168 7.57882E-5 39584 2 3.91387E-5
X-110971499-G-C p.Leu674Phe missense ALG13 2 79184 2.52576E-5 39592 0 NA
X-110971503-T-G p.Leu676Val missense ALG13 2 79144 2.52704E-5 39572 0 1.34272E-4
X-110971515-A-T p.Asn680Tyr missense ALG13 2 79080 2.52908E-5 39540 1 NA
X-110971516-A-T p.Asn680Ile missense ALG13 1 79076 1.26461E-5 39538 0 NA
X-110971523-G-T p.Gln682His missense ALG13 1 79042 1.26515E-5 39521 0 3.36802E-5
X-110973616-T-TC c.2057-7_2057-6insC splice_region ALG13 2 77876 2.56819E-5 38938 1 NA
X-110973623-G-A p.Gly686Glu missense+splice_region ALG13 9 77940 1.15473E-4 38970 2 7.09723E-4
X-110973626-G-A p.Arg687Gln missense ALG13 3 77958 3.84823E-5 38979 1 5.64656E-6
X-110973627-A-G p.Arg687Arg synonymous ALG13 1 78060 1.28107E-5 39030 0 NA
X-110973633-TGAA-T p.Glu691del conservative_inframe_deletion ALG13 68 78120 8.70456E-4 39060 21 6.31969E-4
X-110973639-A-G p.Glu691Glu synonymous ALG13 2 78190 2.55787E-5 39095 1 1.57565E-4
X-110973646-T-C p.Tyr694His missense ALG13 1 78150 1.27959E-5 39075 0 4.5159E-5
X-110973650-G-A p.Arg695His missense ALG13 2 78140 2.55951E-5 39070 0 1.12943E-5
X-110973750-T-C c.2090-3T>C splice_region ALG13 2 78106 2.56062E-5 39053 1 NA
X-110973754-G-C p.Glu697Asp missense+splice_region ALG13 7 78056 8.96792E-5 39028 2 1.59855E-4
X-110973766-A-G p.Glu701Glu synonymous ALG13 2 77868 2.56845E-5 38934 0 1.34991E-5
X-110973788-A-G p.Thr709Ala missense ALG13 6 77468 7.74513E-5 38734 1 9.51384E-5
X-110978259-ACTATATTTTTGTATTAAAGTCTCTTCAGGACAGAAAGTCATGTT-A p.Ser716fs frameshift ALG13 1 71362 1.40131E-5 35681 0 9.17263E-5
X-110978280-C-T p.Ser716Phe missense+splice_region ALG13 1 74194 1.34782E-5 37097 0 4.57226E-5
X-110978283-T-A p.Leu717His missense ALG13 1 74424 1.34365E-5 37212 0 NA
X-110978285-C-A p.Gln718Lys missense ALG13 1 74458 1.34304E-5 37229 0 NA
X-110978306-A-G p.Met725Val missense ALG13 14 75128 1.86349E-4 37564 3 2.27366E-4
X-110978310-C-T p.Ser726Phe missense ALG13 2 75208 2.65929E-5 37604 0 NA
X-110978344-C-T p.Pro737Pro synonymous ALG13 4 74824 5.34588E-5 37412 2 1.16242E-5
X-110978349-A-AGATGATG p.Ser733fs frameshift ALG13 1 74640 1.33976E-5 37320 0 NA
X-110979955-T-C p.Ile744Thr missense ALG13 4 78472 5.09736E-5 39236 2 NA
X-110979976-G-A p.Cys751Tyr missense ALG13 1 78798 1.26907E-5 39399 0 5.64449E-6
X-110979985-A-G p.Asn754Ser missense ALG13 3 78894 3.80257E-5 39447 1 1.2406E-4
X-110980010-C-T p.Asn762Asn synonymous ALG13 1 79016 1.26557E-5 39508 0 4.58758E-5
X-110980011-G-A p.Gly763Ser missense ALG13 1 79006 1.26573E-5 39503 0 4.5861E-5
X-110980018-C-T p.Ala765Val missense ALG13 1 79032 1.26531E-5 39516 0 0.00125
X-110980019-G-A p.Ala765Ala synonymous ALG13 4 79020 5.06201E-5 39510 1 3.46604E-5
X-110980027-A-G p.Gln768Arg missense ALG13 3 79030 3.79603E-5 39515 1 NA
X-110980028-A-G p.Gln768Gln synonymous ALG13 1 79050 1.26502E-5 39525 0 4.62086E-5
X-110980029-G-C p.Ala769Pro missense ALG13 96 79036 0.00121464 39518 21 0.00293269
X-110980057-A-G p.Gln778Arg missense ALG13 2 78938 2.53363E-5 39469 1 1.6826E-5
X-110980066-T-C p.Ile781Thr missense ALG13 3 78856 3.8044E-5 39428 0 1.73957E-4
X-110980079-T-C p.Phe785Phe synonymous ALG13 1 78732 1.27013E-5 39366 0 NA
X-110980082-A-G p.Val786Val synonymous ALG13 1 78672 1.2711E-5 39336 0 5.74941E-6
X-110980084-C-T p.Ser787Phe missense ALG13 184 78618 0.00234043 39309 48 0.00826296
X-110980097-C-T p.His791His synonymous ALG13 9 78280 1.14972E-4 39140 1 1.17773E-4
X-110980107-G-A p.Asp795Asn missense+splice_region ALG13 1 77744 1.28627E-5 38872 0 NA
X-110980309-G-C n.55G>C splice_region ALG13 1 31866 3.13814E-5 15933 0 NA
X-110980310-G-A n.55+1G>A splice_donor ALG13 1 31498 3.1748E-5 15749 0 NA
X-110987905-C-T p.Ser902Leu missense ALG13 3 77182 3.88692E-5 38591 1 5.68355E-5
X-110987953-T-TACC p.Pro933dup disruptive_inframe_insertion ALG13 558 74852 0.00745471 37426 63 0.0086628
X-110987953-TACC-T p.Pro933del disruptive_inframe_deletion ALG13 124 74728 0.00165935 37364 12 5.21071E-4
X-110987953-TACCACCACCACCACC-T p.Pro929_Pro933del disruptive_inframe_deletion ALG13 6 75264 7.97194E-5 37632 1 1.30268E-4
X-110987953-TACCACCACC-T p.Pro931_Pro933del disruptive_inframe_deletion ALG13 2 75266 2.65724E-5 37633 0 NA
X-110987953-TACCACC-T p.Pro932_Pro933del disruptive_inframe_deletion ALG13 43 75236 5.71535E-4 37618 3 0.00104214
X-110987953-T-TACCACC p.Pro932_Pro933dup disruptive_inframe_insertion ALG13 84 75242 0.0011164 37621 12 0.00123754
X-110987953-TACCACCACCACC-T p.Pro930_Pro933del disruptive_inframe_deletion ALG13 11 75256 1.46168E-4 37628 1 NA
X-110987953-TACCACCACCACCACCACC-T p.Pro928_Pro933del disruptive_inframe_deletion ALG13 6 75266 7.97173E-5 37633 0 3.25669E-4
X-110987953-TACCACCACCACCACCACCACCACC-T p.Pro926_Pro933del disruptive_inframe_deletion ALG13 1 75266 1.32862E-5 37633 0 NA
X-110987953-T-TACCACCACC p.Pro931_Pro933dup disruptive_inframe_insertion ALG13 10 75262 1.32869E-4 37631 2 NA
X-110987953-TACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGCTCTTGATGTGGGAGAGACTTCAAACTTACA-T p.Pro923_Pro960del disruptive_inframe_deletion ALG13 1 75266 1.32862E-5 37633 0 NA
X-110987953-T-TACCACCACCACC p.Pro930_Pro933dup disruptive_inframe_insertion ALG13 3 75262 3.98608E-5 37631 1 NA
X-110987955-C-A p.Pro919Thr missense ALG13 2 75182 2.66021E-5 37591 1 NA
X-110987960-A-C p.Pro920Pro synonymous ALG13 1 74372 1.34459E-5 37186 0 0.0262954
X-110987963-A-C p.Pro921Pro synonymous ALG13 1 73898 1.35322E-5 36949 0 NA
X-110987966-A-G p.Pro922Pro synonymous ALG13 5 73582 6.79514E-5 36791 2 0.00133333
X-110987966-A-C p.Pro922Pro synonymous ALG13 2 73318 2.72784E-5 36659 0 NA
X-110987969-A-C p.Pro923Pro synonymous ALG13 1 72794 1.37374E-5 36397 0 0.0276461
X-110987975-A-C p.Pro925Pro synonymous ALG13 2 72150 2.772E-5 36075 0 0.0286853
X-110987981-ACCACCACCACCACCACCT-A p.Pro929_Pro934del disruptive_inframe_deletion ALG13 1 72044 1.38804E-5 36022 0 1.41818E-5
X-110987981-A-C p.Pro927Pro synonymous ALG13 2 71766 2.78683E-5 35883 0 NA
X-110987981-ACCACCACCACCACCACCTCCT-A p.Pro929_Pro935del disruptive_inframe_deletion ALG13 1 72044 1.38804E-5 36022 0 NA
X-110987984-ACCACCACCACCACCT-A p.Pro930_Pro934del disruptive_inframe_deletion ALG13 1 71914 1.39055E-5 35957 0 NA
X-110987984-A-C p.Pro928Pro synonymous ALG13 1 71680 1.39509E-5 35840 0 0.0161812
X-110987987-A-G p.Pro929Pro synonymous ALG13 17 71864 2.36558E-4 35932 5 6.47375E-5
X-110987987-A-C p.Pro929Pro synonymous ALG13 1 71670 1.39528E-5 35835 0 0.0271382
X-110987987-A-T p.Pro929Pro synonymous ALG13 1 71872 1.39136E-5 35936 0 NA
X-110987990-A-T p.Pro930Pro synonymous ALG13 1 71850 1.39179E-5 35925 0 NA
X-110987990-A-C p.Pro930Pro synonymous ALG13 2 71686 2.78995E-5 35843 0 0.0239868
X-110987993-ACCACCT-A p.Pro933_Pro934del disruptive_inframe_deletion ALG13 10 71750 1.39373E-4 35875 0 9.27486E-5
X-110987993-A-C p.Pro931Pro synonymous ALG13 1 71640 1.39587E-5 35820 0 NA
X-110987996-ACCTCCT-A p.Pro944_Pro945del conservative_inframe_deletion ALG13 113 71384 0.00158299 35692 18 0.00312848
X-110987996-ACCT-A p.Pro945del conservative_inframe_deletion ALG13 1343 65834 0.0203998 32917 205 0.0950576
X-110987996-A-ACCT p.Pro945dup conservative_inframe_insertion ALG13 881 71118 0.0123879 35559 74 0.032853
X-110987996-ACCTCCTCCTCCT-A p.Pro942_Pro945del conservative_inframe_deletion ALG13 30 71446 4.19898E-4 35723 10 0.0014876
X-110987996-A-ACCACCT p.Pro932_Pro933dup disruptive_inframe_insertion ALG13 46 71442 6.43879E-4 35721 1 6.91643E-4
X-110987996-A-T p.Pro932Pro synonymous ALG13 103 71390 0.00144278 35695 3 0.0590248
X-110987996-ACCTCCTCCT-A p.Pro943_Pro945del conservative_inframe_deletion ALG13 8 71446 1.11973E-4 35723 1 6.61157E-4
X-110987996-A-ACCTCCT p.Pro944_Pro945dup conservative_inframe_insertion ALG13 14 71448 1.95947E-4 35724 2 0.00103746
X-110987996-ACCTCCTCCTCCTCCT-A p.Pro941_Pro945del conservative_inframe_deletion ALG13 6 71450 8.39748E-5 35725 1 3.30579E-4
X-110987996-A-ACCACCACCT p.Pro931_Pro933dup disruptive_inframe_insertion ALG13 7 71450 9.79706E-5 35725 0 NA
X-110987996-ACCTCCTCCTCCTCCTCCT-A p.Pro940_Pro945del conservative_inframe_deletion ALG13 3 71452 4.19862E-5 35726 1 NA
X-110987996-A-C p.Pro932Pro synonymous ALG13 2 71388 2.80159E-5 35694 0 NA
X-110987999-T-A p.Pro933Pro synonymous ALG13 52 71010 7.32291E-4 35505 0 0.0850168
X-110987999-T-C p.Pro933Pro synonymous ALG13 1 71168 1.40513E-5 35584 0 NA
X-110988002-T-A p.Pro934Pro synonymous ALG13 1 71858 1.39163E-5 35929 0 0.0200803
X-110988008-T-A p.Pro936Pro synonymous ALG13 1 73118 1.36765E-5 36559 0 6.05107E-5
X-110988027-C-G p.Pro943Ala missense ALG13 6 75970 7.89785E-5 37985 1 NA
X-110988042-G-A p.Asp948Asn missense ALG13 4 77014 5.19386E-5 38507 1 5.20671E-5
X-110988060-A-G p.Asn954Asp missense ALG13 4 77840 5.13875E-5 38920 2 3.92526E-5
X-110988067-A-AACC p.Pro960dup disruptive_inframe_insertion ALG13 9 78020 1.15355E-4 39010 1 7.37391E-5
X-110988067-AACCACCACCACCACT-A p.Pro959_Pro963del disruptive_inframe_deletion ALG13 1 78020 1.28172E-5 39010 0 NA
X-110988087-C-T p.Pro963Ser missense ALG13 1 78582 1.27256E-5 39291 0 NA
X-110988092-A-G p.Pro964Pro synonymous ALG13 2 78646 2.54304E-5 39323 1 NA
X-110988098-T-C p.Tyr966Tyr synonymous ALG13 86 78720 0.00109248 39360 12 0.005
X-110988113-C-T p.Ser971Ser synonymous ALG13 2 78796 2.5382E-5 39398 0 NA
X-111000817-G-A p.Cys809Tyr missense+splice_region ALG13 16 76980 2.07846E-4 38490 3 9.63577E-5
X-111000829-G-A p.Ser813Asn missense ALG13 4 77638 5.15212E-5 38819 2 2.99615E-5
X-111000843-A-G p.Met818Val missense ALG13 1 77980 1.28238E-5 38990 0 NA
X-111000850-A-G p.Tyr820Cys missense ALG13 16 78146 2.04745E-4 39073 1 2.34643E-4
X-111000862-TGCA-T p.Gln827del disruptive_inframe_deletion ALG13 2 78332 2.55324E-5 39166 1 4.64987E-5
X-111000865-A-T p.Gln825Leu missense ALG13 1 78394 1.27561E-5 39197 0 4.65138E-5
X-111000881-A-G p.Val830Val synonymous ALG13 127 78526 0.0016173 39263 23 0.00314844
X-111000900-A-G p.Thr837Ala missense ALG13 10 78586 1.27249E-4 39293 2 7.0922E-4
X-111000927-G-A p.Val846Ile missense ALG13 1 78500 1.27389E-5 39250 0 2.36376E-5
X-111000935-A-G p.Gln848Gln synonymous ALG13 22 78540 2.80112E-4 39270 5 0.005625
X-111000947-G-T p.Glu852Asp missense ALG13 3 78554 3.81903E-5 39277 1 NA
X-111000959-A-G p.Glu856Glu synonymous ALG13 1 78518 1.27359E-5 39259 0 NA
X-111000972-G-A p.Ala861Thr missense ALG13 1 78412 1.27532E-5 39206 0 NA
X-111000973-C-T p.Ala861Val missense ALG13 2 78364 2.55219E-5 39182 0 6.25E-4
X-111000985-C-G p.Ala865Gly missense ALG13 15 78286 1.91605E-4 39143 2 4.61318E-5
X-111000990-G-GATACTTTTCCGAATGCTGATTCTTCATCTGTCCCTCATGGAGCAGTCTATTATCCA c.2599_2599+1insATACTTTTCCGAATGCTGATTCTTCATCTGTCCCTCATGGAGCAGTCTATTATCCA splice_donor ALG13 1 78216 1.27851E-5 39108 0 NA
X-111002962-A-C p.Asp867Ala missense+splice_region ALG13 1 78446 1.27476E-5 39223 0 NA
X-111002987-A-G p.Ser875Ser synonymous ALG13 1 78824 1.26865E-5 39412 0 7.4992E-5
X-111002989-C-G p.Ser876Cys missense ALG13 2 78828 2.53717E-5 39414 0 0.00125
X-111003003-G-A p.Ala881Thr missense ALG13 2 78942 2.53351E-5 39471 1 1.6383E-5
X-111003034-A-T p.Tyr891Phe missense ALG13 8 79176 1.01041E-4 39588 1 2.26643E-5
X-111003034-A-G p.Tyr891Cys missense ALG13 19 79176 2.39972E-4 39588 5 7.44257E-4
X-111003040-A-C p.Gln893Pro missense ALG13 1 79212 1.26243E-5 39606 0 NA
X-111003043-C-T p.Pro894Leu missense ALG13 1 79212 1.26243E-5 39606 0 5.6457E-6
X-111003053-A-G p.Pro897Pro synonymous ALG13 6 79208 7.57499E-5 39604 1 1.37969E-4
X-111003064-C-A p.Ser901Tyr missense ALG13 1 79270 1.26151E-5 39635 0 NA
X-111003065-C-G p.Ser901Ser synonymous ALG13 1 79258 1.2617E-5 39629 0 9.19244E-5
X-111003074-G-A p.Pro904Pro synonymous ALG13 2 79208 2.525E-5 39604 1 4.91419E-5
X-111003077-T-C p.Val905Val synonymous ALG13 2 79214 2.52481E-5 39607 1 1.22041E-5
X-111003116-T-C p.Val918Val synonymous ALG13 4 79142 5.05421E-5 39571 2 4.62449E-5
X-111003168-C-A p.Pro936Thr missense ALG13 1 79168 1.26314E-5 39584 0 NA
X-111003171-A-G p.Ile937Val missense ALG13 19 79190 2.39929E-4 39595 7 8.29378E-4
X-111003192-C-T p.Pro944Ser missense ALG13 4 79274 5.04579E-5 39637 1 7.29031E-5
X-111003195-C-T p.Pro945Ser missense ALG13 6 79280 7.56811E-5 39640 1 NA
X-111003211-T-A p.Val950Glu missense ALG13 1 79130 1.26374E-5 39565 0 NA
X-111003212-A-G p.Val950Val synonymous ALG13 11 79126 1.39019E-4 39563 0 3.65982E-4
X-111003213-C-T p.Pro951Ser missense ALG13 1 79106 1.26413E-5 39553 0 NA
X-111003217-A-G p.Gln952Arg missense ALG13 3 79086 3.79334E-5 39543 1 4.56267E-5
X-111003219-G-T p.Gly953Cys missense ALG13 1 79056 1.26493E-5 39528 0 1.24163E-5
X-111003227-A-C p.Ter955Tyrext*? stop_lost ALG13 81 78926 0.00102628 39463 19 8.65627E-4