Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-14705538-A-G c.*167-8T>C splice_region ANKH 2 3090 6.47249E-4 1545 0 1.91058E-4
5-14711141-T-C c.*165A>G splice_region ANKH 1 65644 1.52337E-5 32822 0 NA
5-14711197-CCAAAA-C n.825_829delTTTTG splice_region ANKH 2 77176 2.59148E-5 38588 0 6.38284E-5
5-14711198-CAAAACAAAACAAAAAAAAG-C n.810_828delCTTTTTTTTGTTTTGTTTT splice_region ANKH 1 77424 1.29159E-5 38712 0 3.20369E-5
5-14711311-C-T p.Glu492Lys missense ANKH 2 83284 2.40142E-5 41642 0 4.94185E-5
5-14711314-TCTC-T p.Glu490del conservative_inframe_deletion ANKH 5 83288 6.00327E-5 41644 0 1.5905E-5
5-14711322-C-T p.Arg488Lys missense ANKH 1 83328 1.20008E-5 41664 0 NA
5-14711322-C-G p.Arg488Thr missense ANKH 1 83328 1.20008E-5 41664 0 NA
5-14711324-C-T p.Met487Ile missense ANKH 3 83330 3.60014E-5 41665 0 1.27244E-4
5-14711332-C-T p.Val485Met missense ANKH 106 83344 0.00127184 41672 0 0.00261213
5-14711333-G-A p.Ile484Ile synonymous ANKH 1 83334 1.19999E-5 41667 0 9.06006E-5
5-14711339-T-TG p.Asp483fs frameshift ANKH 1 83344 1.19985E-5 41672 0 3.97636E-6
5-14711346-T-A p.Glu480Val missense ANKH 3 83360 3.59885E-5 41680 0 1.19292E-5
5-14711353-T-TCGGAGGCATGTCTGTCATGG p.Thr478fs frameshift ANKH 1 83356 1.19967E-5 41678 0 3.97633E-6
5-14711354-C-T p.Pro477Pro synonymous ANKH 28 83358 3.35901E-4 41679 0 6.25E-4
5-14711359-G-A p.Pro476Ser missense ANKH 1 83356 1.19967E-5 41678 0 NA
5-14711365-C-T p.Asp474Asn missense ANKH 1 83360 1.19962E-5 41680 0 6.25E-4
5-14711390-C-T p.Thr465Thr synonymous ANKH 1 83328 1.20008E-5 41664 0 3.18715E-5
5-14711391-G-A p.Thr465Met missense ANKH 1 83318 1.20022E-5 41659 0 8.23642E-6
5-14711402-A-G p.Asn461Asn synonymous ANKH 1 83284 1.20071E-5 41642 0 8.23642E-6
5-14711409-ATCT-A p.Lys458del disruptive_inframe_deletion ANKH 1 83252 1.20117E-5 41626 0 3.29457E-5
5-14712990-C-T p.Arg453Gln missense ANKH 6 81772 7.33748E-5 40886 0 2.02705E-4
5-14712991-G-A p.Arg453Trp missense ANKH 4 81790 4.89057E-5 40895 0 4.24232E-5
5-14713003-A-G p.Cys449Arg missense ANKH 2 81954 2.44039E-5 40977 0 NA
5-14713004-C-T p.Ala448Ala synonymous ANKH 2 81950 2.44051E-5 40975 0 6.37959E-5
5-14713005-G-A p.Ala448Val missense ANKH 4 81958 4.88055E-5 40979 0 6.37918E-5
5-14713006-C-T p.Ala448Thr missense ANKH 4 81974 4.8796E-5 40987 0 1.62481E-5
5-14713010-G-A p.Ile446Ile synonymous ANKH 8 82034 9.75205E-5 41017 0 1.84674E-4
5-14713013-G-A p.Ala445Ala synonymous ANKH 1 82064 1.21856E-5 41032 0 1.06241E-5
5-14713015-C-T p.Ala445Thr missense ANKH 6 82054 7.31226E-5 41027 0 3.18695E-5
5-14713016-G-A p.Val444Val synonymous ANKH 100 82098 0.00121806 41049 0 0.00242301
5-14713030-C-T p.Glu440Lys missense ANKH 1 82268 1.21554E-5 41134 0 NA
5-14713040-G-A p.Gly436Gly synonymous ANKH 2 82304 2.43002E-5 41152 0 6.37186E-5
5-14713060-C-T p.Val430Met missense ANKH 2 82200 2.43309E-5 41100 0 3.18654E-5
5-14713061-G-T p.Gly429Gly synonymous ANKH 3 82180 3.65052E-5 41090 0 3.18756E-5
5-14713068-G-A p.Thr427Ile missense ANKH 1 82166 1.21705E-5 41083 0 1.21258E-5
5-14713070-C-T p.Ala426Ala synonymous ANKH 2 82160 2.43427E-5 41080 0 0.00101112
5-14713075-C-T p.Gly425Ser missense ANKH 1 82112 1.21785E-5 41056 0 1.21615E-5
5-14713076-G-A p.His424His synonymous ANKH 7 82092 8.52702E-5 41046 0 6.25E-4
5-14713085-G-A c.1266-3C>T splice_region ANKH 2 81976 2.43974E-5 40988 0 4.09092E-6
5-14713086-C-A c.1266-4G>T splice_region ANKH 3 81936 3.66139E-5 40968 0 3.18573E-5
5-14713088-G-A c.1266-6C>T splice_region ANKH 15 81928 1.83088E-4 40964 0 8.75166E-4
5-14713647-A-G c.1265+6T>C splice_region ANKH 556 83116 0.00668945 41558 8 0.0143458
5-14713672-C-T p.Val416Met missense ANKH 2 83150 2.40529E-5 41575 0 4.3787E-5
5-14713673-G-A p.Leu415Leu synonymous ANKH 2 83164 2.40489E-5 41582 0 NA
5-14713679-G-A p.Ala413Ala synonymous ANKH 2 83158 2.40506E-5 41579 0 NA
5-14713681-C-T p.Ala413Thr missense ANKH 135 83156 0.00162345 41578 1 0.00162431
5-14713688-G-A p.Val410Val synonymous ANKH 1 83168 1.20239E-5 41584 0 8.28734E-6
5-14713706-A-C p.Ser404Ser synonymous ANKH 1 83248 1.20123E-5 41624 0 NA
5-14713724-G-A p.Phe398Phe synonymous ANKH 3 83262 3.60308E-5 41631 0 5.03525E-4
5-14713737-A-G p.Leu394Pro missense ANKH 1 83290 1.20062E-5 41645 0 NA
5-14713743-A-G p.Met392Thr missense ANKH 1 83280 1.20077E-5 41640 0 NA
5-14713751-C-G p.Gly389Gly synonymous ANKH 9 83246 1.08113E-4 41623 0 1.91095E-4
5-14713753-C-T p.Gly389Arg missense ANKH 1 83226 1.20155E-5 41613 0 NA
5-14713754-G-A p.Thr388Thr synonymous ANKH 4 83232 4.80584E-5 41616 0 9.06588E-5
5-14713763-C-T p.Ala385Ala synonymous ANKH 12 83174 1.44276E-4 41587 0 4.77859E-4
5-14716810-T-C c.1141+5A>G splice_region ANKH 9 83344 1.07986E-4 41672 0 2.86551E-4
5-14716820-A-G p.Val379Ala missense ANKH 1 83374 1.19941E-5 41687 0 3.97712E-6
5-14716834-G-A p.Phe374Phe synonymous ANKH 5 83396 5.99549E-5 41698 0 4.95876E-5
5-14716873-A-C p.Phe361Leu missense ANKH 4 83410 4.79559E-5 41705 0 NA
5-14716876-G-A p.Asp360Asp synonymous ANKH 1 83408 1.19893E-5 41704 0 3.1835E-5
5-14716884-C-T p.Gly358Arg missense ANKH 2 83400 2.39808E-5 41700 0 NA
5-14716885-G-A p.Ile357Ile synonymous ANKH 3 83398 3.59721E-5 41699 0 3.97883E-6
5-14716888-G-T p.Ile356Ile synonymous ANKH 1 83400 1.19904E-5 41700 0 1.65549E-5
5-14716891-G-C p.Asp355Glu missense ANKH 1 83398 1.19907E-5 41699 0 NA
5-14716894-T-C p.Ile354Met missense ANKH 1 83402 1.19901E-5 41701 0 NA
5-14716895-A-G p.Ile354Thr missense ANKH 1 83402 1.19901E-5 41701 0 1.6553E-5
5-14716901-A-G p.Ile352Thr missense ANKH 1 83394 1.19913E-5 41697 0 NA
5-14716914-C-T p.Val348Met missense ANKH 6 83382 7.1958E-5 41691 0 5.03525E-4
5-14716914-C-G p.Val348Leu missense ANKH 1 83382 1.1993E-5 41691 0 3.9782E-6
5-14716915-G-A p.Asn347Asn synonymous ANKH 1 83382 1.1993E-5 41691 0 3.18309E-5
5-14716916-T-C p.Asn347Ser missense ANKH 7 83380 8.3953E-5 41690 0 1.59185E-4
5-14716935-C-T p.Val341Met missense ANKH 17 83346 2.03969E-4 41673 0 3.14303E-4
5-14716936-G-A p.Phe340Phe synonymous ANKH 1 83338 1.19993E-5 41669 0 7.95678E-6
5-14716940-CAG-C p.Cys339fs frameshift ANKH 1 83326 1.20011E-5 41663 0 NA
5-14716945-C-CG c.1012-2_1012-1insC splice_acceptor ANKH 3 83290 3.60187E-5 41645 1 NA
5-14741489-T-C n.524-2A>G splice_acceptor ANKH 2 2594 7.7101E-4 1297 0 0.00197402
5-14741924-CTCTG-C c.1011+8_1011+11delCAGA splice_region ANKH 1 83028 1.20441E-5 41514 0 8.44894E-6
5-14741931-C-G c.1011+5G>C splice_region ANKH 2 83104 2.40662E-5 41552 0 NA
5-14741936-C-T p.Thr337Thr splice_region+synonymous ANKH 3 83114 3.6095E-5 41557 0 1.66717E-5
5-14741941-G-A p.Leu336Phe missense ANKH 8 83154 9.6207E-5 41577 0 6.25E-4
5-14741947-G-C p.Leu334Val missense ANKH 10 83172 1.20233E-4 41586 0 6.63328E-5
5-14741960-G-A p.Phe329Phe synonymous ANKH 61 83226 7.32944E-4 41613 0 0.00171975
5-14741964-G-A p.Thr328Ile missense ANKH 1 83256 1.20111E-5 41628 0 3.97719E-6
5-14741977-T-C p.Ile324Val missense ANKH 1 83250 1.2012E-5 41625 0 NA
5-14741984-T-C p.Ala321Ala synonymous ANKH 4490 83136 0.0540079 41568 183 0.0704382
5-14741988-G-A p.Thr320Met missense ANKH 2 83272 2.40177E-5 41636 0 5.03525E-4
5-14741998-T-C p.Asn317Asp missense ANKH 1 83270 1.20091E-5 41635 0 8.25382E-6
5-14742002-C-T p.Thr315Thr synonymous ANKH 11 83270 1.321E-4 41635 0 1.59246E-4
5-14742003-G-A p.Thr315Met missense ANKH 3 83274 3.60256E-5 41637 0 5.96583E-5
5-14742031-T-C p.Asn306Asp missense+splice_region ANKH 1 83156 1.20256E-5 41578 0 6.36821E-5
5-14742035-G-T c.916-4C>A splice_region ANKH 2 83118 2.40622E-5 41559 0 NA
5-14745971-G-A c.915+8C>T splice_region ANKH 6 83268 7.20565E-5 41634 0 1.98859E-5
5-14746012-C-T p.Thr294Thr synonymous ANKH 13 83330 1.56006E-4 41665 0 9.55231E-5
5-14746013-G-A p.Thr294Met missense ANKH 1 83336 1.19996E-5 41668 0 NA
5-14746014-T-C p.Thr294Ala missense ANKH 1 83334 1.19999E-5 41667 0 NA
5-14746027-T-C p.Pro289Pro synonymous ANKH 1 83342 1.19988E-5 41671 0 9.55597E-5
5-14746047-A-T p.Tyr283Asn missense ANKH 1 83290 1.20062E-5 41645 0 NA
5-14746048-T-C p.Thr282Thr synonymous ANKH 1 83294 1.20057E-5 41647 0 9.55353E-5
5-14746048-T-A p.Thr282Thr synonymous ANKH 1 83294 1.20057E-5 41647 0 NA
5-14746059-A-C p.Leu279Val missense ANKH 1 83246 1.20126E-5 41623 0 NA
5-14746063-C-T p.Ala277Ala synonymous ANKH 2 83240 2.40269E-5 41620 0 6.3674E-5
5-14746074-G-A c.823-3C>T splice_region ANKH 1 83176 1.20227E-5 41588 0 NA
5-14749298-T-G p.Ser269Arg missense ANKH 1 83300 1.20048E-5 41650 0 NA
5-14749312-C-T p.Arg264Gln missense ANKH 2 83336 2.39992E-5 41668 0 3.97972E-6
5-14749370-C-A p.Ala245Ser missense ANKH 1 83390 1.19918E-5 41695 0 NA
5-14749374-A-C p.Pro243Pro synonymous ANKH 2 83394 2.39825E-5 41697 0 1.64734E-5
5-14749389-C-G p.Leu238Leu synonymous ANKH 4 83396 4.79639E-5 41698 0 1.59056E-5
5-14749407-T-G p.Ala232Ala synonymous ANKH 2 83384 2.39854E-5 41692 0 7.95298E-6
5-14749415-C-CCCCCAGCTCCGGGCCACTT c.688-1_688insAAGTGGCCCGGAGCTGGGG splice_acceptor ANKH 3 83374 3.59824E-5 41687 1 NA
5-14749416-C-CCCCAGCTCCGGGCCACTTCTGTCAGGGATGATGTCGTGAATGTTCT c.688-2_688-1insAGAACATTCACGACATCATCCCTGACAGAAGTGGCCCGGAGCTGGG splice_acceptor ANKH 2 83370 2.39894E-5 41685 1 NA
5-14751174-G-A c.687+4C>T splice_region ANKH 4 83382 4.7972E-5 41691 0 1.31798E-4
5-14751176-A-G c.687+2T>C splice_donor ANKH 1 83380 1.19933E-5 41690 0 NA
5-14751183-G-A p.Leu228Leu synonymous ANKH 1 83406 1.19895E-5 41703 0 1.19297E-5
5-14751184-C-T p.Glu227Glu synonymous ANKH 52 83398 6.23516E-4 41699 0 6.36902E-4
5-14751188-G-A p.Pro226Leu missense ANKH 10 83398 1.19907E-4 41699 0 1.86904E-4
5-14751191-C-A p.Gly225Val missense ANKH 1 83406 1.19895E-5 41703 0 1.98815E-5
5-14751214-G-A p.His217His synonymous ANKH 1 83404 1.19898E-5 41702 0 2.38582E-5
5-14751216-G-C p.His217Asp missense ANKH 1 83402 1.19901E-5 41701 0 NA
5-14751220-G-A p.Asn215Asn synonymous ANKH 3 83400 3.59712E-5 41700 0 NA
5-14751227-T-C p.Tyr213Cys missense ANKH 1 83388 1.19921E-5 41694 0 NA
5-14751255-G-A p.Arg204Cys missense ANKH 2 83370 2.39894E-5 41685 0 NA
5-14751262-T-A p.Ala201Ala synonymous ANKH 1 83368 1.1995E-5 41684 0 NA
5-14751264-C-T p.Ala201Thr missense ANKH 8 83374 9.59532E-5 41687 0 3.97671E-6
5-14751265-G-A p.Gly200Gly synonymous ANKH 2 83366 2.39906E-5 41683 0 5.04032E-4
5-14751286-C-T p.Pro193Pro synonymous ANKH 4 83350 4.79904E-5 41675 0 6.25E-4
5-14751287-G-C p.Pro193Arg missense ANKH 1 83348 1.19979E-5 41674 0 NA
5-14751305-C-T p.Arg187Gln missense ANKH 325 83304 0.00390137 41652 0 0.00311578
5-14751306-G-A p.Arg187Trp missense ANKH 1 83288 1.20065E-5 41644 0 1.64851E-5
5-14751346-A-C p.Val173Val splice_region+synonymous ANKH 1 82868 1.20674E-5 41434 0 3.98864E-6
5-14755964-A-T c.516+6T>A splice_region ANKH 3 83038 3.6128E-5 41519 0 NA
5-14755988-G-A p.Ile166Ile synonymous ANKH 1 83156 1.20256E-5 41578 0 NA
5-14756006-C-A p.Leu160Leu synonymous ANKH 1 83172 1.20233E-5 41586 0 0.00100705
5-14756037-C-T p.Gly150Asp missense ANKH 1 83178 1.20224E-5 41589 0 NA
5-14758586-C-T c.432+3G>A splice_region ANKH 2 83088 2.40709E-5 41544 0 7.95729E-6
5-14758591-T-C p.Met144Val missense+splice_region ANKH 1 83144 1.20273E-5 41572 0 1.2738E-4
5-14758594-C-T p.Ala143Thr missense ANKH 1 83164 1.20244E-5 41582 0 8.28542E-6
5-14758610-G-C p.Ala137Ala synonymous ANKH 1 83240 1.20135E-5 41620 0 3.30398E-5
5-14758612-C-T p.Ala137Thr missense ANKH 2 83242 2.40263E-5 41621 0 1.98886E-5
5-14758613-G-A p.Ala136Ala synonymous ANKH 1 83252 1.20117E-5 41626 0 3.18451E-5
5-14758616-G-A p.Leu135Leu synonymous ANKH 385 83250 0.00462462 41625 7 0.00942615
5-14758637-C-T p.Thr128Thr synonymous ANKH 2 83298 2.40102E-5 41649 0 9.55231E-5
5-14758645-T-C p.Ser126Gly missense ANKH 2 83304 2.40085E-5 41652 0 8.24647E-6
5-14758647-C-T p.Gly125Glu missense ANKH 1 83296 1.20054E-5 41648 0 NA
5-14758650-A-G p.Val124Ala missense ANKH 1 83298 1.20051E-5 41649 0 NA
5-14758652-C-T p.Ser123Ser synonymous ANKH 17 83288 2.04111E-4 41644 0 0.00151057
5-14758658-G-A p.Asp121Asp synonymous ANKH 1 83280 1.20077E-5 41640 0 8.24484E-6
5-14758664-A-G p.His119His synonymous ANKH 3 83278 3.60239E-5 41639 0 9.55049E-5
5-14758709-T-TATCAGTGTGTGAAAGACGGCAGCGATGGCCCCTGCCACCACCATACACAGGACG c.314-3_314-2insCGTCCTGTGTATGGTGGTGGCAGGGGCCATCGCTGCCGTCTTTCACACACTGAT splice_region ANKH 2 83132 2.40581E-5 41566 1 NA
5-14769099-A-G p.Phe100Leu missense ANKH 1 82402 1.21356E-5 41201 0 7.96946E-6
5-14769102-C-T p.Val99Ile missense ANKH 1 82418 1.21333E-5 41209 0 6.61288E-5
5-14769103-G-A p.Ala98Ala synonymous ANKH 13766 81646 0.168606 40823 1175 0.251875
5-14769109-G-A p.Ile96Ile synonymous ANKH 6 82630 7.26128E-5 41315 0 1.59205E-4
5-14769115-C-T p.Gly94Gly synonymous ANKH 1 82764 1.20825E-5 41382 0 3.18451E-5
5-14769122-A-G p.Val92Ala missense ANKH 2 82880 2.41313E-5 41440 0 3.98064E-6
5-14769133-C-T p.Leu88Leu synonymous ANKH 1 82996 1.20488E-5 41498 0 1.64829E-5
5-14769136-G-A p.Val87Val synonymous ANKH 1 83018 1.20456E-5 41509 0 1.64821E-5
5-14769139-G-A p.Ala86Ala synonymous ANKH 326 83038 0.00392591 41519 4 0.00773738
5-14769142-T-C p.Lys85Lys synonymous ANKH 5 83086 6.01786E-5 41543 0 1.27364E-4
5-14769143-T-C p.Lys85Arg missense ANKH 1 83096 1.20343E-5 41548 0 NA
5-14769151-G-A p.Asp82Asp synonymous ANKH 1 83144 1.20273E-5 41572 0 8.24035E-6
5-14769163-G-T p.Asn78Lys missense ANKH 1 83176 1.20227E-5 41588 0 3.97836E-6
5-14769241-G-A p.Tyr52Tyr synonymous ANKH 2 83146 2.40541E-5 41573 0 8.30717E-6
5-14769247-G-A p.Ala50Ala synonymous ANKH 2 83152 2.40523E-5 41576 0 9.55718E-5
5-14769258-C-T p.Glu47Lys missense ANKH 2 83140 2.40558E-5 41570 0 4.21273E-5
5-14769295-C-T p.Leu34Leu synonymous ANKH 74 82944 8.92168E-4 41472 0 0.00184784
5-14769303-G-GCTCCCCGAAGTCGATGGCTATGTTGGTGATGCCCAGGGGCACCAAGAACC c.97-4_97-3insGGTTCTTGGTGCCCCTGGGCATCACCAACATAGCCATCGACTTCGGGGAG splice_region ANKH 7 82822 8.45186E-5 41411 3 NA
5-14871196-C-T p.Val121Met missense ANKH 3 54282 5.52669E-5 27141 0 1.50845E-5
5-14871203-C-A p.Gly118Gly synonymous ANKH 3 54734 5.48105E-5 27367 0 7.52865E-6
5-14871211-T-C p.Met116Val missense ANKH 14 55514 2.52189E-4 27757 0 0.00576488
5-14871214-G-T p.Pro115Thr missense ANKH 1 55702 1.79527E-5 27851 0 NA
5-14871233-A-G p.Thr108Thr synonymous ANKH 1 55576 1.79934E-5 27788 0 NA
5-14871250-C-G p.Glu103Gln missense ANKH 3 55110 5.44366E-5 27555 0 1.59327E-4
5-14871253-G-A p.Leu102Leu synonymous ANKH 1 55258 1.80969E-5 27629 0 9.56206E-5
5-14871255-G-A p.Ser101Phe missense ANKH 1 55364 1.80623E-5 27682 0 NA
5-14871285-G-GGGGA p.Pro91fs frameshift ANKH 83 59268 0.00140042 29634 0 0.00151522
5-14871285-GGGGA-G p.Ser90fs frameshift ANKH 1 59272 1.68714E-5 29636 0 NA
5-14871286-G-C p.Pro91Ala missense ANKH 2 59382 3.36802E-5 29691 0 NA
5-14871287-G-A p.Ser90Ser synonymous ANKH 2 59600 3.3557E-5 29800 0 9.55779E-5
5-14871288-G-A p.Ser90Phe missense ANKH 1 59750 1.67364E-5 29875 0 NA
5-14871295-G-A p.Pro88Ser missense ANKH 1 61606 1.62322E-5 30803 0 3.18613E-5
5-14871298-G-C p.Leu87Val missense ANKH 2 62626 3.19356E-5 31313 0 NA
5-14871314-A-G p.Phe81Phe synonymous ANKH 22 68638 3.20522E-4 34319 0 7.00682E-4
5-14871332-G-A p.Ser75Ser synonymous ANKH 1 72596 1.37749E-5 36298 0 8.3668E-5
5-14871335-G-A p.Cys74Cys synonymous ANKH 3 73078 4.1052E-5 36539 0 NA
5-14871345-C-G p.Gly71Ala missense ANKH 2 74222 2.69462E-5 37111 0 1.40237E-5
5-14871357-G-A p.Pro67Leu missense ANKH 1 75374 1.32672E-5 37687 0 6.67646E-6
5-14871368-G-A p.Val63Val synonymous ANKH 43 76452 5.62444E-4 38226 0 8.8395E-4
5-14871373-G-A p.Arg62* stop_gained ANKH 1 76780 1.30242E-5 38390 0 1.14142E-4
5-14871377-C-G p.Leu60Leu synonymous ANKH 5 77042 6.48997E-5 38521 0 5.13452E-5
5-14871380-G-A p.His59His synonymous ANKH 2 77254 2.58886E-5 38627 0 9.30752E-5
5-14871384-C-T p.Ser58Asn missense ANKH 1 77468 1.29086E-5 38734 0 NA
5-14871387-C-T p.Gly57Glu missense ANKH 1 77664 1.2876E-5 38832 0 NA
5-14871394-C-T p.Ala55Thr missense ANKH 2 77812 2.5703E-5 38906 0 NA
5-14871401-G-A p.Asp52Asp synonymous ANKH 2 77882 2.56799E-5 38941 0 NA
5-14871408-C-A p.Arg50Leu missense ANKH 1 77934 1.28314E-5 38967 0 NA
5-14871417-C-T p.Gly47Asp missense ANKH 5 78122 6.40025E-5 39061 0 3.18695E-5
5-14871418-C-T p.Gly47Ser missense ANKH 11 78190 1.40683E-4 39095 0 1.93343E-4
5-14871424-A-C p.Cys45Gly missense ANKH 1 78194 1.27887E-5 39097 0 3.18878E-5
5-14871428-C-A p.Ser43Ser synonymous ANKH 3 78190 3.83681E-5 39095 0 3.1904E-5
5-14871429-G-C p.Ser43Trp missense ANKH 5 78272 6.38798E-5 39136 0 NA
5-14871431-GC-AT p.Arg42His missense ANKH 8 78272 1.02208E-4 39136 0 NA
5-14871433-G-A p.Arg42Cys missense ANKH 1 78314 1.27691E-5 39157 0 1.06268E-5
5-14871438-T-TG p.His40fs frameshift ANKH 1 78350 1.27632E-5 39175 0 4.10071E-6
5-14871440-G-T p.Pro39Pro synonymous ANKH 2 78522 2.54706E-5 39261 0 NA
5-14871443-C-T p.Ala38Ala synonymous ANKH 1 78522 1.27353E-5 39261 0 3.19122E-5
5-14871447-G-C p.Pro37Arg missense ANKH 2 78652 2.54285E-5 39326 0 8.13928E-6
5-14871456-C-A p.Ser34Ile missense ANKH 1 78838 1.26842E-5 39419 0 NA
5-14871467-C-T p.Gly30Gly synonymous ANKH 1 79134 1.26368E-5 39567 0 8.69459E-6
5-14871486-T-C p.Asn24Ser missense ANKH 1 79578 1.25663E-5 39789 0 8.52384E-6
5-14871491-G-A p.Ile22Ile synonymous ANKH 1 79730 1.25423E-5 39865 0 8.50412E-6
5-14871502-G-A p.Pro19Ser missense ANKH 1 79882 1.25185E-5 39941 0 3.19346E-5
5-14871523-G-A p.Pro12Ser missense ANKH 2 80160 2.49501E-5 40080 0 3.19489E-5
5-14871530-G-A p.His9His synonymous ANKH 1 80132 1.24794E-5 40066 0 2.55423E-5
5-14871536-G-A p.Leu7Leu synonymous ANKH 2 80042 2.49869E-5 40021 0 NA
5-14871540-G-A p.Ala6Val missense ANKH 1 79828 1.25269E-5 39914 0 8.56194E-6
5-14871550-T-C p.Lys3Glu missense ANKH 1 79754 1.25386E-5 39877 0 8.06237E-6
5-14871646-G-A c.-90C>T 5_prime_UTR_premature_start_codon_gain ANKH 1 67428 1.48306E-5 33714 0 NA