Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-6135853-G-A c.-99G>A 5_prime_UTR_premature_start_codon_gain ACSBG2 1 2944 3.39674E-4 1472 0 3.18796E-5
19-6141566-C-T p.Thr4Thr synonymous ACSBG2 1 83154 1.20259E-5 41577 0 5.04032E-4
19-6141568-C-A p.Pro5Gln missense ACSBG2 2 83140 2.40558E-5 41570 0 5.04032E-4
19-6141573-A-G p.Thr7Ala missense ACSBG2 2 83160 2.405E-5 41580 0 9.0861E-5
19-6141593-T-A p.Asp13Glu missense ACSBG2 1453 83052 0.0174951 41526 12 0.024375
19-6141609-A-T p.Asn19Tyr missense ACSBG2 1 82972 1.20523E-5 41486 0 NA
19-6141625-T-C c.67+4T>C splice_region ACSBG2 1 82704 1.20913E-5 41352 0 NA
19-6141629-G-T c.67+8G>T splice_region ACSBG2 1 82620 1.21036E-5 41310 0 NA
19-6147453-G-C c.68-4G>C splice_region ACSBG2 1884 83146 0.0226589 41573 36 0.0361695
19-6147470-G-A c.-70G>A 5_prime_UTR_premature_start_codon_gain ACSBG2 45 83284 5.4032E-4 41642 0 9.87513E-4
19-6147479-C-G p.Thr30Thr synonymous ACSBG2 4 83312 4.80123E-5 41656 0 8.2371E-6
19-6147482-T-C p.Cys31Cys synonymous ACSBG2 20 83312 2.40061E-4 41656 0 6.25E-4
19-6147483-C-T p.Arg32* stop_gained ACSBG2 6 83318 7.20133E-5 41659 0 5.16981E-5
19-6147484-G-A p.Arg32Gln missense ACSBG2 3 83322 3.60049E-5 41661 0 2.38603E-5
19-6147487-A-G p.Asp33Gly missense ACSBG2 1 83328 1.20008E-5 41664 0 3.18137E-5
19-6147518-C-T c.-22C>T 5_prime_UTR_premature_start_codon_gain ACSBG2 10 83362 1.19959E-4 41681 0 2.54761E-4
19-6147518-C-A p.His43Gln missense ACSBG2 1 83362 1.19959E-5 41681 0 NA
19-6147531-G-A p.Glu48Lys missense ACSBG2 1 83364 1.19956E-5 41682 0 7.95254E-6
19-6147535-C-T p.Thr49Ile missense ACSBG2 1 83366 1.19953E-5 41683 0 NA
19-6147538-C-T p.Pro50Leu missense ACSBG2 10 83364 1.19956E-4 41682 0 0.00100705
19-6147543-A-T p.Thr52Ser missense ACSBG2 3 83374 3.59824E-5 41687 0 7.95248E-6
19-6147547-T-C p.Ile53Thr missense ACSBG2 14 83378 1.6791E-4 41689 0 0.001875
19-6147554-A-AT p.Arg58fs frameshift ACSBG2 1 83384 1.19927E-5 41692 0 0.00151057
19-6147561-C-T p.Arg58* stop_gained ACSBG2 6 83372 7.19666E-5 41686 0 0.00151057
19-6147562-G-A p.Arg58Gln missense ACSBG2 1 83376 1.19939E-5 41688 0 NA
19-6147564-G-A p.Glu59Lys missense ACSBG2 1 83376 1.19939E-5 41688 0 3.97627E-6
19-6147567-T-G p.Ser60Ala missense ACSBG2 1 83378 1.19936E-5 41689 0 3.19E-5
19-6147576-C-T p.Arg63* stop_gained ACSBG2 1 83382 1.1993E-5 41691 0 9.55597E-5
19-6147579-T-C p.Phe64Leu missense ACSBG2 6 83388 7.19528E-5 41694 0 1.27389E-4
19-6147599-C-T c.-231C>T 5_prime_UTR_premature_start_codon_gain ACSBG2 3 83384 3.59781E-5 41692 0 2.47105E-5
19-6147600-G-C p.Ala71Pro missense ACSBG2 1 83388 1.19921E-5 41694 0 NA
19-6147602-A-G p.Ala71Ala synonymous ACSBG2 6 83394 7.19476E-5 41697 0 2.47105E-5
19-6147611-T-A p.Asn74Lys missense ACSBG2 3 83386 3.59773E-5 41693 0 0.0020141
19-6147612-G-A p.Gly75Ser missense ACSBG2 1 83386 1.19924E-5 41693 0 NA
19-6147637-T-C p.Phe83Ser missense ACSBG2 1 83366 1.19953E-5 41683 0 8.24226E-6
19-6147638-C-T p.Phe83Phe synonymous ACSBG2 1 83370 1.19947E-5 41685 0 NA
19-6147640-A-G p.Asn84Ser missense ACSBG2 13 83366 1.55939E-4 41683 0 5.4407E-4
19-6147648-T-C p.Tyr87His missense ACSBG2 1 83350 1.19976E-5 41675 0 NA
19-6147651-G-T p.Glu88* stop_gained ACSBG2 1 83342 1.19988E-5 41671 0 NA
19-6147654-G-A p.Ala89Thr missense ACSBG2 1 83332 1.20002E-5 41666 0 NA
19-6147660-C-T p.Arg91Trp missense ACSBG2 38 83330 4.56018E-4 41665 0 0.00108273
19-6147676-C-A p.Ser96Tyr missense ACSBG2 413 83210 0.00496335 41605 2 0.0100962
19-6147691-G-C c.297+5G>C splice_region ACSBG2 3 83018 3.61367E-5 41509 0 3.98606E-6
19-6151720-G-A p.Leu100Leu splice_region+synonymous ACSBG2 1 82224 1.21619E-5 41112 0 9.55657E-5
19-6151723-T-C p.Gly101Gly synonymous ACSBG2 1885 82190 0.0229347 41095 40 0.0359123
19-6151730-C-T p.Arg104Cys missense ACSBG2 22 82266 2.67425E-4 41133 0 1.4758E-4
19-6151731-G-A p.Arg104His missense ACSBG2 9 82274 1.09391E-4 41137 0 6.25E-4
19-6151738-C-T c.-123C>T 5_prime_UTR_premature_start_codon_gain ACSBG2 6 82304 7.29005E-5 41152 0 0.0015121
19-6151739-G-A p.Gly107Arg missense ACSBG2 2 82312 2.42978E-5 41156 0 6.25E-4
19-6151747-T-C p.Gly109Gly synonymous ACSBG2 1 82340 1.21448E-5 41170 0 1.60215E-5
19-6151777-T-A p.Phe119Leu missense ACSBG2 8 82240 9.72763E-5 41120 0 5.78704E-4
19-6151786-T-C p.Ala122Ala synonymous ACSBG2 1 82180 1.21684E-5 41090 0 NA
19-6151799-C-A p.Leu127Ile missense ACSBG2 44 82068 5.36141E-4 41034 0 0.00100908
19-6151804-C-T c.-57C>T 5_prime_UTR_premature_start_codon_gain ACSBG2 11 81986 1.34169E-4 40993 0 6.25E-4
19-6151805-G-A p.Gly129Arg missense+splice_region ACSBG2 20 82006 2.43885E-4 41003 0 9.72526E-4
19-6151807-G-A c.386+1G>A splice_donor ACSBG2 1 81990 1.21966E-5 40995 0 NA
19-6156436-T-C c.387-6T>C splice_region ACSBG2 1 83254 1.20114E-5 41627 0 4.36266E-6
19-6156442-G-A p.Gly129Gly splice_region+synonymous ACSBG2 1 83252 1.20117E-5 41626 0 NA
19-6156444-G-T p.Gly130Val missense+splice_region ACSBG2 2 83262 2.40206E-5 41631 0 8.72463E-6
19-6156446-C-T p.Leu131Phe missense ACSBG2 1 83264 1.201E-5 41632 0 NA
19-6156450-G-T p.Cys132Phe missense ACSBG2 1 83272 1.20088E-5 41636 0 NA
19-6156452-G-A p.Val133Ile missense ACSBG2 2 83266 2.40194E-5 41633 0 3.18613E-5
19-6156453-T-G p.Val133Gly missense ACSBG2 1 83262 1.20103E-5 41631 0 8.7108E-6
19-6156466-C-T p.Ala137Ala synonymous ACSBG2 1 83308 1.20036E-5 41654 0 NA
19-6156471-A-G p.Asn139Ser missense ACSBG2 1 83316 1.20025E-5 41658 0 NA
19-6156478-C-T p.Ala141Ala synonymous ACSBG2 1 83320 1.20019E-5 41660 0 1.65006E-5
19-6156479-G-A p.Glu142Lys missense ACSBG2 1 83320 1.20019E-5 41660 0 6.37146E-5
19-6156483-T-C p.Val143Ala missense ACSBG2 57837 83056 0.696361 41528 20187 0.738125
19-6156486-G-A p.Cys144Tyr missense ACSBG2 2 83322 2.40033E-5 41661 0 6.86148E-5
19-6156490-A-G p.Gln145Gln synonymous ACSBG2 1 83320 1.20019E-5 41660 0 4.28365E-6
19-6156492-A-G p.Tyr146Cys missense ACSBG2 2 83320 2.40038E-5 41660 0 NA
19-6156496-C-G p.Val147Val synonymous ACSBG2 3 83314 3.60084E-5 41657 0 3.30278E-5
19-6156505-T-C p.His150His synonymous ACSBG2 4 83288 4.80261E-5 41644 0 1.6521E-5
19-6156510-A-G p.Lys152Arg missense ACSBG2 9780 83094 0.117698 41547 687 0.105
19-6156523-G-T p.Leu156Phe missense ACSBG2 1 83254 1.20114E-5 41627 0 NA
19-6156548-C-T p.Gln165* stop_gained ACSBG2 8 83134 9.62302E-5 41567 0 2.23029E-4
19-6156561-C-T p.Ser169Leu missense+splice_region ACSBG2 36 83006 4.33704E-4 41503 0 6.25E-4
19-6156562-G-A p.Ser169Ser splice_region+synonymous ACSBG2 6 83002 7.22874E-5 41501 0 1.2747E-4
19-6161219-C-T c.508-7C>T splice_region ACSBG2 918 82958 0.0110658 41479 24 0.0229793
19-6161231-A-G p.His131Arg missense ACSBG2 2 83024 2.40894E-5 41512 0 1.59317E-4
19-6161232-C-T p.Gln172* stop_gained ACSBG2 1 83028 1.20441E-5 41514 0 3.97883E-6
19-6161239-G-A p.Ser174Asn missense ACSBG2 3 83032 3.61306E-5 41516 0 8.24076E-6
19-6161240-C-G p.Ser174Arg missense ACSBG2 1 83042 1.20421E-5 41521 0 5.05051E-4
19-6161255-A-G p.Lys179Lys synonymous ACSBG2 1 83036 1.2043E-5 41518 0 7.95501E-6
19-6161257-C-T p.Ala180Val missense ACSBG2 5 83054 6.02018E-5 41527 0 9.944E-5
19-6161257-C-G p.Ala180Gly missense ACSBG2 1 83054 1.20404E-5 41527 0 NA
19-6161258-G-A p.Ala180Ala synonymous ACSBG2 11 83048 1.32454E-4 41524 0 0.00151976
19-6161258-G-C p.Ala180Ala synonymous ACSBG2 1 83048 1.20412E-5 41524 0 NA
19-6161272-G-C p.Arg185Thr missense ACSBG2 1 83020 1.20453E-5 41510 0 4.11957E-5
19-6161275-T-C p.Leu186Pro missense ACSBG2 1 82966 1.20531E-5 41483 0 NA
19-6161276-G-A p.Leu186Leu synonymous ACSBG2 35 82996 4.21707E-4 41498 0 0.00151822
19-6161278-C-G p.Pro187Arg missense ACSBG2 1 82982 1.20508E-5 41491 0 NA
19-6161281-TGAA-T p.Lys190del disruptive_inframe_deletion ACSBG2 5 82890 6.03209E-5 41445 0 3.18332E-5
19-6161288-G-C p.Lys190Asn missense ACSBG2 1 82886 1.20648E-5 41443 0 8.24131E-6
19-6161288-GAAC-G p.Asn193del conservative_inframe_deletion ACSBG2 1 82886 1.20648E-5 41443 0 NA
19-6161307-G-C c.588+1G>C splice_donor ACSBG2 2 82630 2.42043E-5 41315 0 NA
19-6161310-AGT-A c.588+5_588+6delGT splice_region ACSBG2 1 82554 1.21133E-5 41277 0 NA
19-6165871-C-T c.589-6C>T splice_region ACSBG2 1 83348 1.19979E-5 41674 0 NA
19-6165902-G-A p.Arg205Lys missense ACSBG2 233 83346 0.00279558 41673 1 0.00573212
19-6165905-G-A p.Ser206Asn missense ACSBG2 1 83348 1.19979E-5 41674 0 NA
19-6165915-C-A p.Asp209Glu missense ACSBG2 1 83330 1.20005E-5 41665 0 8.23791E-6
19-6165928-C-A p.Gln214Lys missense ACSBG2 3 83326 3.60032E-5 41663 0 NA
19-6165936-C-T p.Ile216Ile synonymous ACSBG2 1 83314 1.20028E-5 41657 0 7.95475E-6
19-6165937-G-A p.Glu217Lys missense ACSBG2 6 83308 7.20219E-5 41654 0 1.23554E-4
19-6165950-C-A p.Ala221Glu missense ACSBG2 1 83304 1.20042E-5 41652 0 3.97776E-6
19-6165960-C-T p.Cys224Cys synonymous ACSBG2 2 83296 2.40108E-5 41648 0 1.27462E-4
19-6165961-G-A p.Ala225Thr missense ACSBG2 2 83298 2.40102E-5 41649 0 7.95475E-6
19-6165966-G-A p.Val226Val synonymous ACSBG2 2 83288 2.40131E-5 41644 0 8.23655E-6
19-6165971-T-C p.Ile228Thr missense ACSBG2 1 83300 1.20048E-5 41650 0 6.25E-4
19-6165973-T-C p.Tyr229His missense ACSBG2 3 83292 3.60179E-5 41646 0 NA
19-6165977-C-A p.Thr230Asn missense ACSBG2 2 83288 2.40131E-5 41644 0 6.36902E-5
19-6165987-C-T p.Thr233Thr synonymous ACSBG2 1 83294 1.20057E-5 41647 0 3.97801E-6
19-6165992-G-A p.Gly235Asp missense ACSBG2 3 83290 3.60187E-5 41645 0 NA
19-6165993-C-T p.Gly235Gly synonymous ACSBG2 58 83298 6.96295E-4 41649 2 0.00180207
19-6165994-A-T p.Ile236Leu missense ACSBG2 1 83300 1.20048E-5 41650 0 6.36983E-5
19-6165999-C-T p.Pro237Pro synonymous ACSBG2 71 83294 8.52402E-4 41647 0 0.00197477
19-6166030-C-T c.738+4C>T splice_region ACSBG2 1 83154 1.20259E-5 41577 0 3.18492E-5
19-6177234-T-G c.739-6T>G splice_region ACSBG2 1 83276 1.20083E-5 41638 0 NA
19-6177244-C-T p.Thr248Met missense ACSBG2 2 83290 2.40125E-5 41645 0 1.59191E-5
19-6177245-G-A p.Thr248Thr synonymous ACSBG2 7 83288 8.40457E-5 41644 0 7.45194E-5
19-6177246-T-C p.Trp249Arg missense ACSBG2 1 83286 1.20068E-5 41643 0 3.9789E-6
19-6177251-T-G p.Ile250Met missense ACSBG2 2 83298 2.40102E-5 41649 0 3.31016E-5
19-6177256-G-A p.Gly252Glu missense ACSBG2 3 83304 3.60127E-5 41652 0 1.19357E-5
19-6177261-G-T p.Val254Leu missense ACSBG2 43 83300 5.16206E-4 41650 0 1.90086E-4
19-6177262-T-TC p.Thr255fs frameshift ACSBG2 6 83296 7.20323E-5 41648 0 5.03525E-4
19-6177263-G-A p.Val254Val synonymous ACSBG2 1 83300 1.20048E-5 41650 0 NA
19-6177274-TTAAAC-T p.Lys259fs frameshift ACSBG2 40 83288 4.80261E-4 41644 0 9.5584E-4
19-6177279-C-G p.Leu260Val missense ACSBG2 5 83270 6.00456E-5 41635 0 7.95906E-6
19-6177298-C-T p.Thr266Met missense ACSBG2 1 83246 1.20126E-5 41623 0 1.65074E-5
19-6177319-T-A p.Leu273His missense ACSBG2 1 83214 1.20172E-5 41607 0 8.25369E-6
19-6177323-C-T p.Ser274Ser synonymous ACSBG2 1 83218 1.20166E-5 41609 0 NA
19-6177328-T-C p.Ile276Thr missense ACSBG2 4 83216 4.80677E-5 41608 0 3.18573E-5
19-6177347-C-T p.Asp282Asp synonymous ACSBG2 13 83160 1.56325E-4 41580 0 0.00100705
19-6177349-T-C p.Ile283Thr missense ACSBG2 5 83156 6.0128E-5 41578 0 2.40798E-5
19-6177367-T-C p.Ile289Thr missense ACSBG2 5 83130 6.01468E-5 41565 0 5.04032E-4
19-6177373-C-T p.Ala291Val missense ACSBG2 4 83126 4.81197E-5 41563 0 4.93547E-5
19-6177374-G-A p.Ala291Ala synonymous ACSBG2 6 83110 7.21935E-5 41555 0 1.60606E-4
19-6177386-T-C p.Phe295Phe synonymous ACSBG2 1 83130 1.20294E-5 41565 0 4.20872E-6
19-6177400-C-A p.Ala300Asp missense ACSBG2 3 83026 3.61333E-5 41513 0 NA
19-6177412-GA-G c.906+6delA splice_region ACSBG2 1 82974 1.2052E-5 41487 0 NA
19-6177415-T-C c.906+8T>C splice_region ACSBG2 8 82916 9.64832E-5 41458 0 4.14145E-4
19-6182756-A-C c.907-6A>C splice_region ACSBG2 328 83004 0.00395162 41502 4 0.00844003
19-6182771-G-T p.Val306Leu missense ACSBG2 1 83064 1.20389E-5 41532 0 NA
19-6182785-G-C p.Lys310Asn missense ACSBG2 1 83204 1.20187E-5 41602 0 NA
19-6182799-CT-C p.Val316fs frameshift ACSBG2 1 83288 1.20065E-5 41644 0 3.1841E-5
19-6182816-C-A p.Pro321Thr missense ACSBG2 2 83300 2.40096E-5 41650 0 3.30229E-5
19-6182835-T-C p.Ile327Thr missense ACSBG2 1 83318 1.20022E-5 41659 0 NA
19-6182837-C-T p.His328Tyr missense ACSBG2 5 83320 6.00096E-5 41660 0 9.55536E-5
19-6182840-G-A p.Glu329Lys missense ACSBG2 2 83316 2.4005E-5 41658 0 NA
19-6182851-G-GA p.Asn334fs frameshift ACSBG2 1 83312 1.20031E-5 41656 0 NA
19-6182861-G-A p.Ala336Thr missense ACSBG2 3 83300 3.60144E-5 41650 0 3.18552E-5
19-6182861-G-C p.Ala336Pro missense ACSBG2 3 83300 3.60144E-5 41650 0 1.64842E-5
19-6182863-C-T p.Ala336Ala synonymous ACSBG2 1 83304 1.20042E-5 41652 0 3.18593E-5
19-6182867-T-A p.Ser338Thr missense ACSBG2 12 83308 1.44044E-4 41654 0 0.00503525
19-6182871-T-C p.Met339Thr missense ACSBG2 2 83314 2.40056E-5 41657 0 NA
19-6182877-TGAA-T p.Lys344del conservative_inframe_deletion ACSBG2 10 83304 1.20042E-4 41652 0 7.4151E-5
19-6182893-C-T p.Phe346Phe synonymous ACSBG2 11 83288 1.32072E-4 41644 0 4.37731E-5
19-6182894-G-A p.Val347Met missense ACSBG2 7 83282 8.40518E-5 41641 0 7.16298E-5
19-6182896-G-A p.Val347Val synonymous ACSBG2 39 83276 4.68322E-4 41638 0 7.32577E-4
19-6182910-T-C p.Ile352Thr missense ACSBG2 13 83274 1.56111E-4 41637 0 3.58175E-5
19-6182939-T-C p.Leu362Leu synonymous ACSBG2 24 83234 2.88344E-4 41617 0 0.0020141
19-6182948-G-T c.1088+5G>T splice_region ACSBG2 1 83230 1.20149E-5 41615 0 NA
19-6182950-G-A c.1088+7G>A splice_region ACSBG2 2 83242 2.40263E-5 41621 0 6.37186E-5
19-6182951-G-A c.1088+8G>A splice_region ACSBG2 1 83236 1.2014E-5 41618 0 8.25464E-6
19-6183048-A-G c.1089-2A>G splice_acceptor ACSBG2 91 83120 0.0010948 41560 0 0.00223072
19-6183055-A-G p.Tyr365Cys missense ACSBG2 23 83150 2.76609E-4 41575 0 6.25E-4
19-6183056-T-A p.Tyr365* stop_gained ACSBG2 1 83148 1.20267E-5 41574 0 NA
19-6183063-C-A p.Pro368Thr missense ACSBG2 1 83166 1.20241E-5 41583 0 3.97947E-6
19-6183065-C-T p.Pro368Pro synonymous ACSBG2 12 83164 1.44293E-4 41582 0 6.25E-4
19-6183065-C-CAAATTT p.Pro368_Val369insLysPhe conservative_inframe_insertion ACSBG2 1 83160 1.2025E-5 41580 0 NA
19-6183066-G-A p.Val369Met missense ACSBG2 2 83170 2.40471E-5 41585 0 1.99002E-5
19-6183075-C-T p.Arg372Cys missense ACSBG2 2 83184 2.40431E-5 41592 0 3.97883E-6
19-6183076-G-A p.Arg372His missense ACSBG2 1 83182 1.20218E-5 41591 0 3.29506E-5
19-6183081-G-A p.Ala374Thr missense ACSBG2 1 83206 1.20184E-5 41603 0 4.11862E-5
19-6183093-G-A p.Val378Met missense ACSBG2 1 83230 1.20149E-5 41615 0 NA
19-6183115-C-A p.Ser385Tyr missense ACSBG2 1 83262 1.20103E-5 41631 0 1.64734E-5
19-6183118-T-G p.Leu386Arg missense ACSBG2 1 83262 1.20103E-5 41631 0 NA
19-6183135-C-G p.His392Asp missense ACSBG2 103 83270 0.00123694 41635 0 0.001428
19-6183155-T-G p.Thr398Thr synonymous ACSBG2 1 83272 1.20088E-5 41636 0 NA
19-6183157-C-T p.Ala399Val missense ACSBG2 6 83270 7.20548E-5 41635 0 1.91083E-4
19-6183158-G-A p.Ala399Ala synonymous ACSBG2 353 83272 0.00423912 41636 0 0.0075
19-6183161-C-T p.Pro400Pro synonymous ACSBG2 1 83278 1.2008E-5 41639 0 NA
19-6183167-C-T p.Asn402Asn synonymous ACSBG2 1 83288 1.20065E-5 41644 0 NA
19-6183169-AAG-A p.Glu404fs frameshift ACSBG2 2 83296 2.40108E-5 41648 0 4.11841E-5
19-6183177-G-A p.Ala406Thr missense ACSBG2 2 83276 2.40165E-5 41638 0 5.03525E-4
19-6183178-C-A p.Ala406Asp missense ACSBG2 2 83268 2.40188E-5 41634 0 2.47109E-5
19-6183180-G-A p.Glu407Lys missense ACSBG2 6 83264 7.206E-5 41632 0 4.9425E-5
19-6183185-C-A p.Phe408Leu missense ACSBG2 141 83264 0.00169341 41632 0 0.0040282
19-6183198-G-A p.Asp413Asn missense ACSBG2 1 83258 1.20109E-5 41629 0 3.97772E-6
19-6183199-A-G p.Asp413Gly missense ACSBG2 2 83254 2.40229E-5 41627 0 NA
19-6183201-A-C p.Ile414Leu missense ACSBG2 2 83258 2.40217E-5 41629 0 8.2375E-5
19-6183210-G-C p.Gly417Arg missense ACSBG2 1 83242 1.20132E-5 41621 0 3.97766E-6
19-6183214-A-G p.Glu418Gly missense ACSBG2 1 83242 1.20132E-5 41621 0 NA
19-6183219-T-C p.Tyr420His missense ACSBG2 2 83240 2.40269E-5 41620 0 3.97779E-5
19-6183221-T-C p.Tyr420Tyr synonymous ACSBG2 15 83246 1.80189E-4 41623 0 9.56572E-5
19-6183225-TTGAG-T p.Ser423fs frameshift ACSBG2 1 83234 1.20143E-5 41617 0 NA
19-6183226-T-A p.Leu422* stop_gained ACSBG2 1 83236 1.2014E-5 41618 0 NA
19-6183233-G-A p.Glu424Glu synonymous ACSBG2 4833 83138 0.0581323 41569 212 0.0830248
19-6183237-T-C p.Ser426Pro missense ACSBG2 3 83196 3.60594E-5 41598 0 8.24063E-6
19-6183237-T-G p.Ser426Ala missense ACSBG2 1 83196 1.20198E-5 41598 0 8.24063E-6
19-6183239-G-A p.Ser426Ser synonymous ACSBG2 1 83188 1.2021E-5 41594 0 3.29669E-5
19-6183250-C-T p.Thr430Met missense ACSBG2 1 83176 1.20227E-5 41588 0 4.12453E-5
19-6183251-G-A p.Thr430Thr synonymous ACSBG2 4 83174 4.8092E-5 41587 0 1.194E-4
19-6183265-AT-A p.Asn435fs frameshift ACSBG2 12 83080 1.44439E-4 41540 0 6.37511E-5
19-6183279-C-A p.Leu440Ile missense ACSBG2 3 82896 3.61899E-5 41448 0 6.37714E-5
19-6183290-GCC-G c.1322+8_1322+9delCC splice_region ACSBG2 1 82742 1.20858E-5 41371 0 NA
19-6185446-G-C c.1323-1G>C splice_acceptor ACSBG2 1 82698 1.20922E-5 41349 0 NA
19-6185452-G-T p.Gly443Val missense ACSBG2 3 82788 3.62371E-5 41394 0 6.36927E-5
19-6185457-A-G p.Ile445Val missense ACSBG2 3 82840 3.62144E-5 41420 0 5.03525E-4
19-6185461-T-G p.Leu446Trp missense ACSBG2 4 82868 4.82695E-5 41434 0 1.91095E-4
19-6185462-G-C p.Leu446Phe missense ACSBG2 3 82888 3.61934E-5 41444 0 3.1839E-5
19-6185468-G-C p.Gly448Gly synonymous ACSBG2 1 82948 1.20557E-5 41474 0 NA
19-6185506-T-C p.Ile461Thr missense ACSBG2 103 83096 0.00123953 41548 0 0.00121075
19-6185550-C-G p.Leu476Val missense ACSBG2 1 83114 1.20317E-5 41557 0 3.97855E-6
19-6185557-G-C p.Ser478Thr missense ACSBG2 1 83106 1.20328E-5 41553 0 8.23642E-6
19-6185561-G-A p.Glu479Glu synonymous ACSBG2 1 83090 1.20351E-5 41545 0 1.19359E-5
19-6185562-A-C p.Thr480Pro missense ACSBG2 1 83078 1.20369E-5 41539 0 8.23642E-6
19-6185569-C-T p.Thr482Ile missense ACSBG2 7 83080 8.42561E-5 41540 0 1.64731E-5
19-6185575-AG-A p.Ala485fs frameshift ACSBG2 1 83074 1.20375E-5 41537 0 NA
19-6185576-G-A p.Glu484Glu synonymous ACSBG2 1 83072 1.20378E-5 41536 0 2.47101E-5
19-6185583-G-A p.Asp487Asn missense ACSBG2 1 83052 1.20406E-5 41526 0 2.1415E-4
19-6185588-TG-T p.Glu489fs frameshift ACSBG2 1 83044 1.20418E-5 41522 0 8.23669E-6
19-6185593-G-C p.Gly490Ala missense ACSBG2 1 83022 1.2045E-5 41511 0 NA
19-6185599-T-C p.Leu492Pro missense ACSBG2 1 83026 1.20444E-5 41513 0 NA
19-6185603-C-T p.His493His synonymous ACSBG2 1 83026 1.20444E-5 41513 0 2.38791E-5
19-6185607-GGGGATCTGGGCCAGCTGGACGGTCT-G p.Asp496fs frameshift ACSBG2 2 82998 2.4097E-5 41499 0 3.29489E-5
19-6185610-G-A p.Asp496Asn missense ACSBG2 1 82988 1.20499E-5 41494 0 NA
19-6185633-G-C p.Leu503Leu synonymous ACSBG2 2 82910 2.41225E-5 41455 0 NA
19-6185642-C-G p.Leu506Leu synonymous ACSBG2 2 82886 2.41295E-5 41443 0 NA
19-6185642-C-T p.Leu506Leu synonymous ACSBG2 2 82886 2.41295E-5 41443 0 NA
19-6185651-C-T p.Thr509Thr synonymous ACSBG2 21 82810 2.53593E-4 41405 0 0.003125
19-6185652-G-A p.Gly510Ser missense ACSBG2 1 82794 1.20782E-5 41397 0 3.58634E-5
19-6185672-G-C c.1540+8G>C splice_region ACSBG2 8 82634 9.68125E-5 41317 0 1.65071E-5
19-6187294-A-G p.Glu514Gly missense+splice_region ACSBG2 3 83264 3.603E-5 41632 0 3.97804E-6
19-6187299-C-T p.Leu516Phe missense ACSBG2 1 83280 1.20077E-5 41640 0 8.24511E-6
19-6187301-T-C p.Leu516Leu synonymous ACSBG2 1 83288 1.20065E-5 41644 0 3.97753E-6
19-6187309-C-T p.Ala519Val missense ACSBG2 5 83316 6.00125E-5 41658 0 3.18552E-5
19-6187317-G-A p.Glu522Lys missense ACSBG2 1 83334 1.19999E-5 41667 0 7.95355E-6
19-6187325-G-GC p.Ile527fs frameshift ACSBG2 1 83348 1.19979E-5 41674 0 8.23791E-6
19-6187325-G-T p.Val524Val synonymous ACSBG2 1 83350 1.19976E-5 41675 0 3.18735E-5
19-6187326-C-T p.Pro525Ser missense ACSBG2 1 83348 1.19979E-5 41674 0 1.5907E-5
19-6187345-C-A p.Thr531Asn missense ACSBG2 1 83362 1.19959E-5 41681 0 6.25E-4
19-6187360-A-T p.Lys536Met missense ACSBG2 1 83368 1.1995E-5 41684 0 NA
19-6187370-C-A p.Ile539Ile synonymous ACSBG2 1 83366 1.19953E-5 41683 0 3.18532E-5
19-6187372-T-G p.Ile540Ser missense ACSBG2 1 83362 1.19959E-5 41681 0 NA
19-6187375-G-T p.Ser541Ile missense ACSBG2 1 83364 1.19956E-5 41682 0 NA
19-6187379-C-T p.Asn542Asn synonymous ACSBG2 1 83354 1.1997E-5 41677 0 1.19307E-5
19-6187380-G-A p.Ala543Thr missense ACSBG2 2 83350 2.39952E-5 41675 0 3.18552E-5
19-6187382-C-T p.Ala543Ala synonymous ACSBG2 1 83350 1.19976E-5 41675 0 3.97706E-6
19-6187384-T-C p.Met544Thr missense ACSBG2 2 83350 2.39952E-5 41675 0 0.00100705
19-6187389-G-C p.Val546Leu missense ACSBG2 2 83344 2.39969E-5 41672 0 NA
19-6187392-G-C p.Gly547Arg missense ACSBG2 1 83340 1.1999E-5 41670 0 NA
19-6187395-G-A p.Asp548Asn missense ACSBG2 1 83342 1.19988E-5 41671 0 8.2375E-6
19-6187417-T-C p.Met555Thr missense ACSBG2 1 83300 1.20048E-5 41650 0 NA
19-6187426-C-T p.Thr558Met missense ACSBG2 9 83278 1.08072E-4 41639 0 6.25E-4
19-6187427-G-A p.Thr558Thr synonymous ACSBG2 4 83284 4.80284E-5 41642 0 2.78512E-5
19-6187433-G-C p.Lys560Asn missense+splice_region ACSBG2 4 83274 4.80342E-5 41637 0 9.55718E-5
19-6187439-A-G c.1680+6A>G splice_region ACSBG2 4 83260 4.80423E-5 41630 0 3.18715E-5
19-6187440-T-C c.1680+7T>C splice_region ACSBG2 1 83266 1.20097E-5 41633 0 NA
19-6187602-G-T c.1681-8G>T splice_region ACSBG2 2 83264 2.402E-5 41632 0 9.55901E-5
19-6187612-T-G p.Cys561Trp missense+splice_region ACSBG2 3 83270 3.60274E-5 41635 0 6.25E-4
19-6187630-C-T p.Ser567Ser synonymous ACSBG2 27 83260 3.24285E-4 41630 0 6.25E-4
19-6187631-G-A p.Gly568Arg missense ACSBG2 14 83268 1.68132E-4 41634 0 0.00125
19-6187651-G-GA p.Asn575fs frameshift ACSBG2 1 83286 1.20068E-5 41643 0 NA
19-6187655-T-C p.Phe576Leu missense ACSBG2 1 83296 1.20054E-5 41648 0 3.18756E-5
19-6187657-C-T p.Phe576Phe synonymous ACSBG2 4833 83218 0.0580764 41609 214 0.0828761
19-6187658-G-A p.Glu577Lys missense ACSBG2 1 83294 1.20057E-5 41647 0 2.38766E-5
19-6187660-G-A p.Glu577Glu synonymous ACSBG2 6 83288 7.20392E-5 41644 2 6.25E-4
19-6187674-G-A p.Cys582Tyr missense ACSBG2 1 83294 1.20057E-5 41647 0 3.18593E-5
19-6187676-C-T p.Arg583Trp missense ACSBG2 6 83278 7.20478E-5 41639 0 7.9576E-6
19-6187677-G-A p.Arg583Gln missense ACSBG2 225 83274 0.00270192 41637 1 0.00631056
19-6187680-G-A p.Gly584Asp missense ACSBG2 1789 83250 0.0214895 41625 25 0.030417
19-6187686-G-A p.Gly586Asp missense ACSBG2 1787 83244 0.021467 41622 25 0.0304606
19-6187695-C-T p.Ala589Val missense ACSBG2 9 83276 1.08074E-4 41638 0 5.03525E-4
19-6187702-C-T p.Arg35Cys missense ACSBG2 10 83294 1.20057E-4 41647 0 8.35382E-5
19-6187702-C-G p.Arg35Gly missense ACSBG2 1 83294 1.20057E-5 41647 0 NA
19-6187703-G-A p.Val592Met missense ACSBG2 3 83294 3.6017E-5 41647 0 2.47117E-5
19-6187713-T-C p.Ile595Thr missense ACSBG2 2 83300 2.40096E-5 41650 0 2.47105E-5
19-6187730-C-G p.Pro601Ala missense ACSBG2 1 83310 1.20034E-5 41655 0 NA
19-6187731-C-G p.Pro601Arg missense ACSBG2 683 83296 0.00819967 41648 21 0.0181407
19-6187737-T-A p.Val603Asp missense ACSBG2 2 83300 2.40096E-5 41650 0 8.23669E-6
19-6187742-A-G p.Lys605Glu missense ACSBG2 1 83316 1.20025E-5 41658 0 6.37146E-5
19-6187748-A-G p.Ile607Val missense ACSBG2 1 83304 1.20042E-5 41652 0 NA
19-6187754-C-G p.Gln609Glu missense ACSBG2 1 83302 1.20045E-5 41651 0 3.97728E-6
19-6187764-A-G p.Asn612Ser missense ACSBG2 1 83304 1.20042E-5 41652 0 3.18471E-5
19-6187777-G-C p.Gln616His missense ACSBG2 5 83298 6.00254E-5 41649 0 1.19318E-5
19-6187786-G-T p.Met619Ile missense ACSBG2 1 83288 1.20065E-5 41644 0 3.97744E-6
19-6187790-A-G p.Asn621Asp missense ACSBG2 5 83282 6.0037E-5 41641 0 1.59297E-4
19-6187800-G-A p.Arg624Lys missense ACSBG2 4823 83224 0.057952 41612 203 0.0821324
19-6187801-G-A p.Arg624Arg synonymous ACSBG2 4 83278 4.80319E-5 41639 0 3.18512E-5
19-6187805-G-C p.Glu626Gln missense ACSBG2 4816 83200 0.0578846 41600 201 0.0821695
19-6187814-G-A p.Val629Ile missense ACSBG2 2 83230 2.40298E-5 41615 0 2.54777E-4
19-6187831-C-A p.Asp634Glu missense ACSBG2 12 83132 1.44349E-4 41566 0 1.27421E-4
19-6187834-T-C p.Phe635Phe synonymous ACSBG2 1 83140 1.20279E-5 41570 0 8.25246E-6
19-6187838-A-G p.Ile637Val missense ACSBG2 1 83102 1.20334E-5 41551 0 NA
19-6187843-T-C p.Tyr638Tyr synonymous ACSBG2 4 83034 4.8173E-5 41517 0 3.18573E-5
19-6187845-G-A p.Gly639Asp missense ACSBG2 1 82980 1.20511E-5 41490 0 1.99175E-5
19-6187850-G-C p.Glu641Gln missense ACSBG2 1 82916 1.20604E-5 41458 0 8.31089E-6
19-6187861-G-A c.1927+5G>A splice_region ACSBG2 1 82766 1.20823E-5 41383 0 NA
19-6187861-G-T c.1927+5G>T splice_region ACSBG2 1 82764 1.20825E-5 41382 0 NA
19-6190589-C-T c.1928-6C>T splice_region ACSBG2 2 82866 2.41354E-5 41433 0 1.98912E-5
19-6190590-G-A c.1928-5G>A splice_region ACSBG2 2 82886 2.41295E-5 41443 0 3.2963E-5
19-6190592-T-C c.1928-3T>C splice_region ACSBG2 3 82936 3.61725E-5 41468 0 NA
19-6190594-G-C c.1928-1G>C splice_acceptor ACSBG2 1 82986 1.20502E-5 41493 0 NA
19-6190596-TC-T p.Pro644fs frameshift ACSBG2 1 83012 1.20465E-5 41506 0 3.97741E-6
19-6190599-A-G p.Pro644Pro synonymous ACSBG2 1897 82976 0.022862 41488 45 0.037802
19-6190603-A-G p.Met646Val missense ACSBG2 1 83068 1.20383E-5 41534 0 NA
19-6190611-TAA-T p.Lys649fs frameshift ACSBG2 4 83126 4.81197E-5 41563 0 3.18593E-5
19-6190631-A-C p.Gln655Pro missense ACSBG2 2 83206 2.40367E-5 41603 0 7.95393E-6
19-6190638-C-T p.Tyr657Tyr synonymous ACSBG2 1 83200 1.20192E-5 41600 0 NA
19-6190649-T-C p.Ile661Thr missense ACSBG2 3 83202 3.60568E-5 41601 0 9.0614E-5
19-6190655-A-G p.His663Arg missense ACSBG2 2 83194 2.40402E-5 41597 0 3.29516E-5
19-6190709-A-G c.*35+6A>G splice_region ACSBG2 2 82610 2.42101E-5 41305 0 3.18492E-5
19-6190710-T-C c.*35+7T>C splice_region ACSBG2 1 82576 1.21101E-5 41288 0 4.12188E-5