Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-66243724-A-T c.-1123A>T 5_prime_UTR_premature_start_codon_gain AMZ2 1 23958 4.17397E-5 11979 0 NA
17-66243933-C-T c.-914C>T 5_prime_UTR_premature_start_codon_gain AMZ2 1 24282 4.11828E-5 12141 0 NA
17-66244008-C-T c.-839C>T 5_prime_UTR_premature_start_codon_gain AMZ2 1 24290 4.11692E-5 12145 0 NA
17-66244038-C-G c.-809C>G 5_prime_UTR_premature_start_codon_gain AMZ2 2 24352 8.21288E-5 12176 0 NA
17-66244196-C-T c.-651C>T 5_prime_UTR_premature_start_codon_gain AMZ2 20 26466 7.55687E-4 13233 0 0.00150054
17-66244197-G-T c.-65G>T splice_region AMZ2 1 26500 3.77358E-5 13250 0 3.19244E-5
17-66244199-G-T c.-648G>T 5_prime_UTR_premature_start_codon_gain AMZ2 1 26634 3.7546E-5 13317 0 NA
17-66244202-G-A c.-63+3G>A splice_region AMZ2 10 26912 3.71581E-4 13456 0 2.23457E-4
17-66244204-G-T c.-63+5G>T splice_region AMZ2 2 27016 7.40302E-5 13508 0 NA
17-66244204-G-C c.-63+5G>C splice_region AMZ2 1 27016 3.70151E-5 13508 0 NA
17-66244210-GC-G p.Val3fs frameshift AMZ2 1 27386 3.6515E-5 13693 0 NA
17-66244212-G-A p.Val3Met missense AMZ2 21 27574 7.61587E-4 13787 0 0.00185102
17-66244212-G-C p.Val3Leu missense AMZ2 17 27574 6.16523E-4 13787 0 2.234E-4
17-66244221-G-T p.Ala6Ser missense AMZ2 45 28308 0.00158966 14154 2 0.0128205
17-66244245-C-T c.-602C>T 5_prime_UTR_premature_start_codon_gain AMZ2 1 30202 3.31104E-5 15101 0 6.37796E-5
17-66244250-G-C c.-68G>C splice_region AMZ2 1 30550 3.27332E-5 15275 0 NA
17-66244264-C-T c.-583C>T 5_prime_UTR_premature_start_codon_gain AMZ2 1 31292 3.1957E-5 15646 0 NA
17-66244394-C-T c.-453C>T 5_prime_UTR_premature_start_codon_gain AMZ2 104 39842 0.00261031 19921 4 0.00625918
17-66244410-C-G c.-437C>G 5_prime_UTR_premature_start_codon_gain AMZ2 1 43228 2.31332E-5 21614 0 NA
17-66244492-C-G c.-355C>G 5_prime_UTR_premature_start_codon_gain AMZ2 1 53544 1.86762E-5 26772 0 1.27478E-4
17-66244536-G-C c.-311G>C 5_prime_UTR_premature_start_codon_gain AMZ2 1 56084 1.78304E-5 28042 0 NA
17-66244548-A-G c.-299A>G 5_prime_UTR_premature_start_codon_gain AMZ2 1 56258 1.77752E-5 28129 0 NA
17-66244718-C-G c.-129C>G 5_prime_UTR_premature_start_codon_gain AMZ2 1 58490 1.70969E-5 29245 0 6.37024E-5
17-66244732-C-T c.-115C>T 5_prime_UTR_premature_start_codon_gain AMZ2 1 58262 1.71638E-5 29131 0 NA
17-66244745-A-G c.-102A>G 5_prime_UTR_premature_start_codon_gain AMZ2 2 57916 3.45328E-5 28958 0 NA
17-66244783-A-C c.-62-2A>C splice_acceptor AMZ2 2 55474 3.60529E-5 27737 0 NA
17-66244785-G-A c.-62G>A splice_region AMZ2 1 55158 1.81297E-5 27579 0 NA
17-66244789-A-G p.Arg11Gly missense AMZ2 1 54860 1.82282E-5 27430 0 NA
17-66244794-T-C p.His12His synonymous AMZ2 1 54476 1.83567E-5 27238 0 NA
17-66244798-C-T p.Arg14Cys missense AMZ2 3 53904 5.56545E-5 26952 0 1.23335E-4
17-66244805-G-T p.Cys16Phe missense AMZ2 98 53140 0.00184419 26570 0 0.00285714
17-66244806-TAAGTTA-T p.Leu18_Lys19del disruptive_inframe_deletion AMZ2 1 52968 1.88793E-5 26484 0 NA
17-66244807-A-G p.Lys17Glu missense AMZ2 1 52840 1.89251E-5 26420 0 3.18451E-5
17-66244810-T-G p.Leu18Val missense AMZ2 11 52400 2.09924E-4 26200 0 6.36983E-5
17-66244810-T-A p.Leu18Ile missense AMZ2 1 52398 1.90847E-5 26199 0 NA
17-66244816-G-A p.Ala20Thr missense AMZ2 1 51552 1.93979E-5 25776 0 NA
17-66244820-C-T p.Ser21Phe missense AMZ2 379 50860 0.00745183 25430 6 0.015444
17-66244832-T-G p.Phe25Cys missense AMZ2 1 48930 2.04374E-5 24465 0 NA
17-66244848-T-TGCAAATAATACGGCACTCCGAACAGACACTAAA c.-1+2_-1+3insGCAAATAATACGGCACTCCGAACAGACACTAAA splice_region AMZ2 1 45768 2.18493E-5 22884 0 NA
17-66245147-A-G c.-86-5A>G splice_region AMZ2 2 25624 7.80518E-5 12812 0 6.3678E-5
17-66245416-C-T c.-913C>T 5_prime_UTR_premature_start_codon_gain AMZ2 1 14284 7.00084E-5 7142 0 NA
17-66245439-C-A c.-890C>A 5_prime_UTR_premature_start_codon_gain AMZ2 14 11752 0.00119129 5876 0 0.00286642
17-66245484-T-C c.-845T>C 5_prime_UTR_premature_start_codon_gain AMZ2 4 4474 8.94055E-4 2237 0 0.00111444
17-66246046-C-T c.-283C>T 5_prime_UTR_premature_start_codon_gain AMZ2 1 12802 7.81128E-5 6401 0 NA
17-66246149-A-G c.-180A>G 5_prime_UTR_premature_start_codon_gain AMZ2 1 49106 2.03641E-5 24553 0 NA
17-66246154-C-A n.87-5C>A splice_region AMZ2 1 51700 1.93424E-5 25850 0 NA
17-66246159-A-G n.87A>G splice_region AMZ2 1 54510 1.83453E-5 27255 0 NA
17-66246229-T-G c.-100T>G 5_prime_UTR_premature_start_codon_gain AMZ2 2 77078 2.59477E-5 38539 0 3.18451E-5
17-66246268-A-G c.-61A>G 5_prime_UTR_premature_start_codon_gain AMZ2 1 81174 1.23192E-5 40587 0 NA
17-66246300-A-G c.-29A>G 5_prime_UTR_premature_start_codon_gain AMZ2 3 82994 3.61472E-5 41497 0 6.36983E-5
17-66246323-TG-T c.1-5delG splice_region AMZ2 1 83214 1.20172E-5 41607 0 1.18189E-4
17-66246326-TAGATGCAAATAATACGG-T p.Met1fs frameshift AMZ2 1 83234 1.20143E-5 41617 0 1.17726E-4
17-66246342-G-A p.Arg5Gln missense AMZ2 5 83286 6.00341E-5 41643 0 1.19784E-5
17-66246346-C-G p.His6Gln missense AMZ2 4 83316 4.801E-5 41658 0 3.18654E-5
17-66246350-G-A p.Glu8Lys missense AMZ2 5 83328 6.00038E-5 41664 0 3.97981E-6
17-66246353-C-T p.Gln9* stop_gained AMZ2 86 83330 0.00103204 41665 2 0.001875
17-66246359-C-G p.Leu11Val missense AMZ2 1 83336 1.19996E-5 41668 0 NA
17-66246365-A-G p.Thr13Ala missense AMZ2 2 83342 2.39975E-5 41671 0 3.29848E-5
17-66246366-C-T p.Thr13Ile missense AMZ2 1 83342 1.19988E-5 41671 0 8.24511E-6
17-66246378-C-CA p.Asn19fs frameshift AMZ2 1 83344 1.19985E-5 41672 0 NA
17-66246378-CAA-C p.Lys18fs frameshift AMZ2 1 83344 1.19985E-5 41672 0 NA
17-66246383-A-G p.Asn19Asp missense AMZ2 2 83348 2.39958E-5 41674 0 NA
17-66246384-AC-A p.Pro20fs frameshift AMZ2 1 83346 1.19982E-5 41673 0 NA
17-66246385-C-T p.Asn19Asn synonymous AMZ2 1 83346 1.19982E-5 41673 0 3.97649E-6
17-66246392-C-G p.Leu22Val missense AMZ2 92 83344 0.00110386 41672 0 0.00135091
17-66246400-A-G p.Ser24Ser synonymous AMZ2 1 83348 1.19979E-5 41674 0 NA
17-66246416-A-G p.Asn30Asp missense AMZ2 59749 83086 0.719122 41543 21759 0.774421
17-66246423-G-A p.Gly32Glu missense AMZ2 1 83364 1.19956E-5 41682 0 3.29457E-5
17-66246430-A-G p.Gln34Gln synonymous AMZ2 1 83362 1.19959E-5 41681 0 3.18492E-5
17-66246431-C-T p.Arg35Cys missense AMZ2 1 83362 1.19959E-5 41681 0 7.95248E-6
17-66246432-G-A p.Arg35His missense AMZ2 37 83362 4.43847E-4 41681 1 0.00352467
17-66246454-G-A p.Gln42Gln synonymous AMZ2 1 83364 1.19956E-5 41682 0 NA
17-66246475-A-T p.Gly49Gly synonymous AMZ2 2 83358 2.39929E-5 41679 0 5.03525E-4
17-66246479-A-G p.Ile51Val missense AMZ2 1 83360 1.19962E-5 41680 0 8.23642E-6
17-66246483-C-T p.Thr52Ile missense AMZ2 2 83360 2.39923E-5 41680 0 6.37227E-5
17-66246487-G-A p.Leu53Leu synonymous AMZ2 1 83358 1.19964E-5 41679 0 NA
17-66246519-C-T p.Pro64Leu missense AMZ2 2 83344 2.39969E-5 41672 0 3.9764E-6
17-66246521-G-A p.Glu65Lys missense AMZ2 2 83344 2.39969E-5 41672 0 NA
17-66246578-CCAAA-C p.Lys86fs frameshift AMZ2 2 83272 2.40177E-5 41636 0 8.26966E-6
17-66246587-C-T p.Arg87Cys missense AMZ2 12 83242 1.44158E-4 41621 0 4.97232E-5
17-66246588-G-A p.Arg87His missense AMZ2 3 83184 3.60646E-5 41592 0 6.25E-4
17-66246597-A-G p.Tyr90Cys missense AMZ2 3 83078 3.61106E-5 41539 0 3.18492E-5
17-66246602-C-T p.Gln92* stop_gained AMZ2 2 82972 2.41045E-5 41486 0 3.98861E-6
17-66246607-C-T p.Ser93Ser synonymous AMZ2 1 82836 1.2072E-5 41418 0 NA
17-66246615-A-G p.Lys10Arg missense AMZ2 1 82590 1.2108E-5 41295 0 1.6907E-5
17-66246620-T-C p.Trp12Arg missense+splice_region AMZ2 1 82402 1.21356E-5 41201 0 NA
17-66246626-T-C c.35+5T>C splice_region AMZ2 1 82126 1.21764E-5 41063 0 8.07448E-6
17-66246942-A-G p.Arg69Gly missense AMZ2 2 82740 2.41721E-5 41370 0 3.18492E-5
17-66246944-G-A p.Gly98Glu missense AMZ2 1 82752 1.20843E-5 41376 0 4.57959E-6
17-66246948-C-T p.His71Tyr missense AMZ2 2 82808 2.41523E-5 41404 0 9.08901E-6
17-66246960-C-T p.Gln75* stop_gained AMZ2 1 83048 1.20412E-5 41524 0 6.69366E-5
17-66246961-A-G p.Ser104Gly missense AMZ2 4 83056 4.81603E-5 41528 0 1.27405E-4
17-66246964-G-A p.Glu105Lys missense AMZ2 1 83108 1.20325E-5 41554 0 NA
17-66246972-T-C p.Tyr107Tyr synonymous AMZ2 1 83228 1.20152E-5 41614 0 3.32867E-5
17-66246974-T-C p.Ile108Thr missense AMZ2 2 83234 2.40286E-5 41617 0 2.49518E-5
17-66246977-A-T p.Lys109Ile missense AMZ2 1 83256 1.20111E-5 41628 0 6.37024E-5
17-66246986-C-T p.Thr112Met missense AMZ2 7 83288 8.40457E-5 41644 0 6.37064E-5
17-66246987-G-A p.Thr112Thr synonymous AMZ2 6 83296 7.20323E-5 41648 0 1.59236E-4
17-66246989-G-A p.Gly113Asp missense AMZ2 1 83286 1.20068E-5 41643 0 8.26556E-6
17-66246992-A-T p.Tyr114Phe missense AMZ2 1 83286 1.20068E-5 41643 0 NA
17-66247020-A-G p.Arg123Arg synonymous AMZ2 2 83288 2.40131E-5 41644 0 NA
17-66247028-T-A p.Leu126His missense AMZ2 2 83290 2.40125E-5 41645 0 6.25E-4
17-66247053-A-G p.Val134Val synonymous AMZ2 2 83288 2.40131E-5 41644 0 NA
17-66247074-C-T p.Val141Val synonymous AMZ2 1 83292 1.2006E-5 41646 0 NA
17-66247076-A-G p.Asn142Ser missense AMZ2 35 83292 4.20208E-4 41646 0 0.00140065
17-66247076-A-T p.Asn142Ile missense AMZ2 1 83292 1.2006E-5 41646 0 NA
17-66247081-AAC-A p.His146fs frameshift AMZ2 1 83300 1.20048E-5 41650 0 NA
17-66247087-C-T p.His146Tyr missense AMZ2 1 83294 1.20057E-5 41647 0 4.00606E-6
17-66247095-A-G p.Leu148Leu synonymous AMZ2 6 83290 7.20375E-5 41645 0 5.03525E-4
17-66247104-T-C p.His151His synonymous AMZ2 1 83294 1.20057E-5 41647 0 8.24987E-6
17-66247106-CAGGTGAATTACACGACTTTGCAATTCGAACTGAGTATATGTATATAATATACACTCATACATTTATGTATTTCTTTTTAAAT-C p.Asp154fs frameshift AMZ2 10 83294 1.20057E-4 41647 2 NA
17-66247192-G-A p.Gly13Arg missense+splice_region AMZ2 1 83302 1.20045E-5 41651 0 6.25782E-4
17-66247198-C-G p.Ile97Met missense AMZ2 1 83302 1.20045E-5 41651 0 8.26378E-6
17-66247213-A-G p.Lys20Glu missense AMZ2 1 83322 1.20016E-5 41661 0 NA
17-66247233-C-G p.Ala109Gly missense AMZ2 2 83312 2.40061E-5 41656 0 NA
17-66247237-C-G p.Phe110Leu missense AMZ2 4 83318 4.80088E-5 41659 0 1.8136E-4
17-66247246-G-A p.Val113Val synonymous AMZ2 1 83324 1.20013E-5 41662 0 NA
17-66247254-C-G p.Thr116Arg missense AMZ2 1 83336 1.19996E-5 41668 0 NA
17-66247281-C-T p.Ser125Leu missense AMZ2 1 83334 1.19999E-5 41667 0 5.04032E-4
17-66247282-G-A p.Ser125Ser synonymous AMZ2 2 83338 2.39987E-5 41669 0 6.36943E-5
17-66247285-G-A p.Trp126* stop_gained AMZ2 3 83340 3.59971E-5 41670 0 3.18471E-5
17-66247286-A-C p.Asn127His missense AMZ2 1 83344 1.19985E-5 41672 0 3.98483E-6
17-66247291-T-G p.Phe128Leu missense AMZ2 2 83344 2.39969E-5 41672 0 NA
17-66247308-C-T p.Ser134Phe missense AMZ2 3 83340 3.59971E-5 41670 0 8.24375E-5
17-66247326-C-T c.412+7C>T splice_region AMZ2 2 83294 2.40113E-5 41647 0 6.37227E-5
17-66247327-G-A c.412+8G>A splice_region AMZ2 1 83298 1.20051E-5 41649 0 3.30289E-5
17-66250540-TG-T c.413-4delG splice_region AMZ2 4 82210 4.86559E-5 41105 0 1.44749E-4
17-66250540-T-G c.413-5T>G splice_region AMZ2 2 82210 2.43279E-5 41105 0 NA
17-66250552-G-T p.Gly140Gly synonymous AMZ2 1490 82508 0.0180589 41254 27 0.0388959
17-66250569-G-C p.Arg146Thr missense AMZ2 1 82846 1.20706E-5 41423 0 NA
17-66250570-G-T p.Arg146Ser missense AMZ2 1 82860 1.20685E-5 41430 0 NA
17-66250570-G-GT p.Tyr147fs frameshift AMZ2 2 82860 2.41371E-5 41430 0 1.59403E-5
17-66250582-T-G p.Asp150Glu missense AMZ2 1 83000 1.20482E-5 41500 0 5.04541E-4
17-66250583-T-C p.Phe151Leu missense AMZ2 2 83008 2.40941E-5 41504 0 3.58606E-5
17-66250597-C-G p.His155Gln missense AMZ2 2 83086 2.40714E-5 41543 0 7.95786E-6
17-66250598-T-A p.Tyr156Asn missense AMZ2 1 83078 1.20369E-5 41539 0 9.54783E-5
17-66250618-G-A p.Lys162Lys synonymous AMZ2 1 83152 1.20262E-5 41576 0 NA
17-66250647-C-G p.Ser172* stop_gained AMZ2 4 83140 4.81116E-5 41570 0 3.18532E-5
17-66250649-A-G p.Ile173Val missense AMZ2 1 83130 1.20294E-5 41565 0 2.56317E-4
17-66250654-C-T p.Phe174Phe synonymous AMZ2 5 83100 6.01685E-5 41550 0 3.18542E-5
17-66250665-A-T p.Tyr178Phe missense AMZ2 1 83052 1.20406E-5 41526 0 NA
17-66250666-T-C p.Tyr178Tyr synonymous AMZ2 1 83038 1.20427E-5 41519 0 7.97391E-6
17-66250672-A-G p.Pro180Pro synonymous AMZ2 1 82992 1.20494E-5 41496 0 NA
17-66250680-C-T p.Thr183Ile missense AMZ2 2 82926 2.41179E-5 41463 0 3.99728E-6
17-66250683-G-C p.Ser184Thr missense AMZ2 4 82894 4.82544E-5 41447 0 1.60072E-5
17-66250694-C-G p.Leu188Val missense AMZ2 1 82792 1.20785E-5 41396 0 3.1837E-5
17-66250697-C-T p.Arg189* stop_gained AMZ2 2 82734 2.41739E-5 41367 0 6.37024E-5
17-66250701-C-T p.Ser248Phe missense+splice_region AMZ2 1 82668 1.20966E-5 41334 0 4.03662E-6
17-66250705-T-A p.Cys191* stop_gained AMZ2 2 82586 2.42172E-5 41293 0 4.05163E-6
17-66250708-G-C p.Lys192Asn missense+splice_region AMZ2 1 82514 1.21192E-5 41257 0 NA
17-66250709-GTAAGT-G c.576+2_576+6delTAAGT splice_donor AMZ2 1 82456 1.21277E-5 41228 0 6.36862E-5
17-66251838-C-T c.577-3C>T splice_region AMZ2 1 80966 1.23509E-5 40483 0 NA
17-66251858-C-T p.Ile198Ile synonymous AMZ2 35 81128 4.31417E-4 40564 0 6.05288E-4
17-66251859-G-A p.Gly199Arg missense AMZ2 4 81158 4.92866E-5 40579 0 6.37308E-5
17-66251872-GA-G p.Leu204fs frameshift AMZ2 7 81326 8.60733E-5 40663 0 8.24484E-6
17-66251873-A-T p.Gly203Gly synonymous AMZ2 1 81346 1.22932E-5 40673 0 8.01346E-6
17-66251874-C-T p.Leu204Leu synonymous AMZ2 1 81364 1.22904E-5 40682 0 2.47308E-5
17-66251875-TGCGACAC-T p.Arg205fs frameshift AMZ2 8 81350 9.83405E-5 40675 0 8.24294E-6
17-66251875-T-C p.Leu204Pro missense AMZ2 1 81350 1.22926E-5 40675 0 4.40659E-5
17-66251877-C-T p.Arg205* stop_gained AMZ2 3 81348 3.68786E-5 40674 0 0.00100705
17-66251887-A-G p.Gln208Arg missense AMZ2 2 81492 2.45423E-5 40746 0 NA
17-66251892-C-G p.Leu210Val missense AMZ2 2 81546 2.4526E-5 40773 0 NA
17-66251896-C-T p.Ala211Val missense AMZ2 7 81258 8.61454E-5 40629 0 4.405E-5
17-66251921-C-G p.His219Gln missense AMZ2 1 82218 1.21628E-5 41109 0 NA
17-66251922-T-C p.Leu220Leu synonymous AMZ2 3 82254 3.64724E-5 41127 0 7.4151E-5
17-66251933-T-C p.Ala223Ala synonymous AMZ2 1 82410 1.21345E-5 41205 0 NA
17-66251937-C-T p.Arg225Trp missense AMZ2 5 82476 6.06237E-5 41238 0 2.47166E-5
17-66251938-G-A p.Arg225Gln missense AMZ2 6 82448 7.27731E-5 41224 0 0.00125
17-66251940-C-T p.Arg226Cys missense AMZ2 2 82466 2.42524E-5 41233 0 1.64783E-5
17-66251941-G-A p.Arg226His missense AMZ2 1 82506 1.21203E-5 41253 0 3.18715E-5
17-66251958-C-G p.Pro232Ala missense AMZ2 1 82592 1.21077E-5 41296 0 NA
17-66251981-G-A p.Gln239Gln synonymous AMZ2 2 82514 2.42383E-5 41257 0 1.19724E-5
17-66251989-T-C p.Val242Ala missense AMZ2 1 82480 1.21242E-5 41240 0 NA
17-66251997-A-G p.Ser245Gly missense AMZ2 1 82388 1.21377E-5 41194 0 NA
17-66252001-T-C p.Ile246Thr missense AMZ2 3 82304 3.64502E-5 41152 0 1.19894E-5
17-66252008-A-C p.Glu248Asp missense AMZ2 1 82064 1.21856E-5 41032 0 4.00272E-6
17-66252009-A-C p.Arg249Arg synonymous AMZ2 5 82012 6.09667E-5 41006 0 8.00512E-6
17-66252014-C-G p.Tyr250* stop_gained AMZ2 6 81902 7.32583E-5 40951 0 1.91156E-4
17-66252018-G-A c.753+1G>A splice_donor AMZ2 1 81786 1.2227E-5 40893 0 NA
17-66252024-T-TG c.753+7_753+8insG splice_region AMZ2 1 81594 1.22558E-5 40797 0 8.37212E-6
17-66252025-G-A c.753+8G>A splice_region AMZ2 1 81580 1.22579E-5 40790 0 4.01584E-6
17-66252951-C-G c.754-4C>G splice_region AMZ2 1 83370 1.19947E-5 41685 0 NA
17-66252959-TGGTGA-T p.Arg255fs frameshift AMZ2 372 83398 0.00446054 41699 1 0.00690863
17-66252968-G-A p.Trp256* stop_gained AMZ2 1 83416 1.19881E-5 41708 0 NA
17-66252975-T-C p.Asp258Asp synonymous AMZ2 56 83416 6.71334E-4 41708 0 0.004375
17-66252976-G-T p.Asp259Tyr missense AMZ2 2 83414 2.39768E-5 41707 0 3.9947E-6
17-66252977-A-G p.Asp259Gly missense AMZ2 3 83408 3.59678E-5 41704 0 8.24103E-6
17-66252978-T-G p.Asp259Glu missense AMZ2 1 83406 1.19895E-5 41703 0 NA
17-66252979-G-A p.Glu260Lys missense AMZ2 1 83412 1.19887E-5 41706 0 8.24035E-6
17-66252979-G-GA p.Ser261fs frameshift AMZ2 11 83412 1.31876E-4 41706 0 9.55414E-5
17-66252994-C-T p.Pro265Ser missense AMZ2 1 83410 1.1989E-5 41705 0 0.00100806
17-66253003-A-G p.Thr268Ala missense AMZ2 12 83412 1.43864E-4 41706 0 1.31342E-4
17-66253019-A-G p.His273Arg missense AMZ2 532 83408 0.00637829 41704 14 0.0137545
17-66253020-C-T p.His273His synonymous AMZ2 2 83416 2.39762E-5 41708 0 8.2371E-6
17-66253021-G-C p.Glu274Gln missense AMZ2 1 83418 1.19878E-5 41709 0 NA
17-66253021-G-A p.Glu274Lys missense AMZ2 1 83418 1.19878E-5 41709 0 3.97725E-6
17-66253040-C-T p.Pro280Leu missense AMZ2 1 83406 1.19895E-5 41703 0 8.23737E-6
17-66253047-C-T p.Pro282Pro synonymous AMZ2 18 83398 2.15833E-4 41699 0 5.03525E-4
17-66253050-G-T p.Val283Val synonymous AMZ2 56 83394 6.71511E-4 41697 0 0.00127372
17-66253055-C-A p.Ala285Asp missense AMZ2 1 83394 1.19913E-5 41697 0 8.23764E-6
17-66253072-G-A p.Glu291Lys missense AMZ2 79 83374 9.47538E-4 41687 0 0.0011465
17-66253074-G-T p.Glu291Asp missense AMZ2 1 83374 1.19941E-5 41687 0 NA
17-66253095-T-A p.Ala298Ala synonymous AMZ2 25645 82712 0.310052 41356 4075 0.353042
17-66253097-T-G p.Val299Gly missense AMZ2 5 83320 6.00096E-5 41660 0 1.08149E-4
17-66253266-A-G c.*156A>G splice_region AMZ2 1 65964 1.51598E-5 32982 0 NA