Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-103389003-G-T c.-23G>T 5_prime_UTR_premature_start_codon_gain AMN 21 80814 2.59856E-4 40407 0 6.42096E-5
14-103389017-C-T c.-9C>T 5_prime_UTR_premature_start_codon_gain AMN 1 80910 1.23594E-5 40455 0 3.19326E-5
14-103389026-A-ATGGGCGTCC p.Val3_Gly5dup conservative_inframe_insertion AMN 1 80940 1.23548E-5 40470 0 4.42353E-6
14-103389027-T-C p.Met1? start_lost AMN 1 80912 1.23591E-5 40456 0 NA
14-103389031-C-T p.Gly2Gly synonymous AMN 2 80828 2.47439E-5 40414 0 1.44936E-5
14-103389032-G-A p.Val3Ile missense AMN 1 80826 1.23723E-5 40413 0 NA
14-103389032-G-C p.Val3Leu missense AMN 2 80826 2.47445E-5 40413 0 6.37755E-5
14-103389034-C-T p.Val3Val synonymous AMN 2 80828 2.47439E-5 40414 0 4.47555E-6
14-103389036-TG-T p.Gly5fs frameshift AMN 2 80824 2.47451E-5 40412 0 7.35164E-5
14-103389039-G-A p.Gly5Asp missense AMN 1 80742 1.23851E-5 40371 0 3.03067E-5
14-103389042-G-C p.Arg6Pro missense AMN 2 80754 2.47666E-5 40377 0 NA
14-103389046-C-T p.Val7Val synonymous AMN 2 80714 2.47788E-5 40357 0 3.14733E-5
14-103389046-C-A p.Val7Val synonymous AMN 5 80714 6.19471E-5 40357 0 6.29465E-5
14-103389059-C-A p.Gln12Lys missense AMN 1 80356 1.24446E-5 40178 0 NA
14-103389072-A-G c.43+4A>G splice_region AMN 1 79770 1.2536E-5 39885 0 NA
14-103390035-GCCT-G c.44-7_44-5delTCC splice_region AMN 7 82248 8.51085E-5 41124 0 6.37796E-5
14-103390049-A-C p.Ala15Ala splice_region+synonymous AMN 5 82576 6.05503E-5 41288 0 2.8046E-5
14-103390060-C-G p.Ala19Gly missense AMN 1 82674 1.20957E-5 41337 0 NA
14-103390061-G-T p.Ala19Ala synonymous AMN 86 82684 0.0010401 41342 0 0.00117909
14-103390066-C-T p.Ser21Phe missense AMN 42 82730 5.07676E-4 41365 0 6.37105E-5
14-103390067-C-T p.Ser21Ser synonymous AMN 26 82740 3.14237E-4 41370 0 5.41643E-4
14-103390082-C-A p.Pro26Pro synonymous AMN 1 82818 1.20747E-5 41409 0 NA
14-103390083-A-C p.Asn27His missense AMN 1 82824 1.20738E-5 41412 0 1.6816E-5
14-103390085-C-T p.Asn27Asn synonymous AMN 2 82818 2.41493E-5 41409 0 0.00125156
14-103390085-C-G p.Asn27Lys missense AMN 1 82818 1.20747E-5 41409 0 8.40831E-6
14-103390086-AC-A p.Thr28fs frameshift AMN 1 82816 1.2075E-5 41408 0 4.0058E-6
14-103390096-A-G p.Asp31Gly missense AMN 1 82784 1.20796E-5 41392 0 8.41015E-6
14-103390097-C-T p.Asp31Asp synonymous AMN 7 82776 8.45656E-5 41388 0 3.6458E-4
14-103390101-G-A p.Ala33Thr missense AMN 1 82756 1.20837E-5 41378 0 NA
14-103390106-C-T p.Ala34Ala synonymous AMN 1 82772 1.20814E-5 41386 0 NA
14-103390108-A-G p.Asn35Ser missense AMN 1 82762 1.20828E-5 41381 0 NA
14-103390112-G-C p.Trp36Cys missense AMN 1 82724 1.20884E-5 41362 0 3.18573E-5
14-103390114-G-A p.Ser37Asn missense AMN 3 82738 3.6259E-5 41369 0 3.3691E-5
14-103390123-G-T p.Arg40Leu missense AMN 2 82702 2.41832E-5 41351 0 3.18654E-5
14-103390131-TGCGCCGGCGGCGCCGTTGAGTTCCCGGCGGACAAGGTGCCTGGGA-T p.Cys43fs frameshift AMN 4 82638 4.84039E-5 41319 0 4.02359E-6
14-103390131-T-G p.Cys43Gly missense AMN 1 82638 1.2101E-5 41319 0 4.02359E-6
14-103390134-G-A p.Ala44Thr missense AMN 34 82644 4.11403E-4 41322 0 3.82507E-4
14-103390134-G-T p.Ala44Ser missense AMN 1 82644 1.21001E-5 41322 0 NA
14-103390144-C-T p.Ala47Val missense AMN 3 82528 3.63513E-5 41264 0 6.37186E-5
14-103390160-G-A p.Ala52Ala synonymous AMN 4 82472 4.85013E-5 41236 0 8.4868E-6
14-103390166-G-C p.Lys54Asn missense+splice_region AMN 1 82458 1.21274E-5 41229 0 NA
14-103390166-G-T p.Lys54Asn missense+splice_region AMN 1 82458 1.21274E-5 41229 0 NA
14-103390171-C-T c.162+5C>T splice_region AMN 2 82414 2.42677E-5 41207 0 NA
14-103390266-C-T c.163-6C>T splice_region AMN 2 82962 2.41074E-5 41481 0 3.32016E-5
14-103390268-G-A c.163-4G>A splice_region AMN 1 82946 1.2056E-5 41473 0 8.29999E-6
14-103390269-C-T c.163-3C>T splice_region AMN 1 82936 1.20575E-5 41468 0 3.18817E-5
14-103390274-G-A p.Met55Ile missense+splice_region AMN 186 82988 0.00224129 41494 2 0.00484385
14-103390276-T-C p.Val56Ala missense AMN 2 82976 2.41034E-5 41488 0 NA
14-103390278-T-A p.Ser57Thr missense AMN 1 82984 1.20505E-5 41492 0 NA
14-103390284-C-T p.Leu59Leu synonymous AMN 4 82998 4.81939E-5 41499 0 3.98702E-5
14-103390296-G-A p.Gly63Ser missense AMN 1 82988 1.20499E-5 41494 0 3.18532E-5
14-103390297-G-A p.Gly63Asp missense AMN 1 82984 1.20505E-5 41492 0 3.18573E-5
14-103390299-C-T p.His64Tyr missense AMN 8 82964 9.64274E-5 41482 0 1.16219E-4
14-103390301-C-T p.His64His synonymous AMN 1 82964 1.20534E-5 41482 0 8.30096E-6
14-103390302-G-A p.Ala65Thr missense AMN 3 82950 3.61664E-5 41475 0 NA
14-103390304-C-T p.Ala65Ala synonymous AMN 2 82946 2.41121E-5 41473 0 7.97626E-6
14-103390306-T-C p.Val66Ala missense AMN 9 82922 1.08536E-4 41461 0 6.37592E-5
14-103390315-T-C p.Met69Thr missense+splice_region AMN 8 82926 9.64716E-5 41463 0 7.17921E-5
14-103390316-G-A p.Met69Ile missense+splice_region AMN 2 82918 2.41202E-5 41459 0 9.13606E-5
14-103390323-C-T c.207+7C>T splice_region AMN 1 82854 1.20694E-5 41427 0 NA
14-103390324-C-T c.207+8C>T splice_region AMN 1 82812 1.20755E-5 41406 0 NA
14-103394761-A-G c.208-2A>G splice_acceptor AMN 5 73010 6.84838E-5 36505 0 3.69194E-5
14-103394770-C-T p.Pro72Leu missense AMN 1 74334 1.34528E-5 37167 0 9.89629E-5
14-103394790-C-T p.Leu79Leu synonymous AMN 1 75546 1.3237E-5 37773 0 4.19681E-6
14-103394802-G-A p.Ala83Thr missense AMN 1 75730 1.32048E-5 37865 0 NA
14-103394811-G-C p.Gly86Arg missense AMN 3 75578 3.96941E-5 37789 0 NA
14-103394817-TC-T p.Ser88fs frameshift AMN 1 75508 1.32436E-5 37754 0 NA
14-103394825-G-T p.Val90Val synonymous AMN 1 75350 1.32714E-5 37675 0 NA
14-103394828-C-T p.Gly91Gly synonymous AMN 1 74914 1.33486E-5 37457 0 NA
14-103394830-C-T p.Ser92Leu missense AMN 17 74732 2.2748E-4 37366 0 7.02247E-4
14-103394835-C-T p.Leu94Leu synonymous AMN 1 74434 1.34347E-5 37217 0 4.19777E-6
14-103394837-G-A p.Leu94Leu synonymous AMN 5 74374 6.72278E-5 37187 0 1.914E-4
14-103394843-T-C p.Cys96Cys synonymous AMN 1 73498 1.36058E-5 36749 0 NA
14-103394848-C-A p.Ala98Glu missense+splice_region AMN 1 72442 1.38041E-5 36221 0 NA
14-103394848-C-T p.Ala98Val missense+splice_region AMN 1 72442 1.38041E-5 36221 0 NA
14-103394849-G-A p.Ala98Ala splice_region+synonymous AMN 3 72924 4.11387E-5 36462 0 2.45501E-5
14-103394856-G-A c.295+6G>A splice_region AMN 1 71970 1.38947E-5 35985 0 3.19101E-5
14-103395087-C-T c.296-8C>T splice_region AMN 2 79116 2.52793E-5 39558 0 NA
14-103395089-G-A c.296-6G>A splice_region AMN 1 79158 1.2633E-5 39579 0 1.07393E-5
14-103395100-C-G p.Pro101Ala missense AMN 1 79640 1.25565E-5 39820 0 NA
14-103395105-C-A p.Ala102Ala synonymous AMN 1 79734 1.25417E-5 39867 0 3.19E-5
14-103395105-C-G p.Ala102Ala synonymous AMN 1 79734 1.25417E-5 39867 0 1.89998E-5
14-103395105-C-T p.Ala102Ala synonymous AMN 1 79734 1.25417E-5 39867 0 NA
14-103395106-G-A p.Val103Ile missense AMN 1 79822 1.25279E-5 39911 0 1.27575E-4
14-103395120-T-C p.Ser107Ser synonymous AMN 15 80326 1.86739E-4 40163 1 8.677E-4
14-103395123-C-T p.Asp108Asp synonymous AMN 170 80388 0.00211474 40194 1 0.00439883
14-103395129-C-T p.Phe110Phe synonymous AMN 1 80628 1.24026E-5 40314 0 NA
14-103395135-G-A p.Trp112* stop_gained AMN 1 80682 1.23943E-5 40341 0 NA
14-103395139-G-A p.Asp114Asn missense AMN 2 80796 2.47537E-5 40398 0 2.5867E-5
14-103395140-A-G p.Asp114Gly missense AMN 1 80686 1.23937E-5 40343 0 8.6201E-6
14-103395144-G-A p.Pro115Pro synonymous AMN 8 80758 9.90614E-5 40379 0 6.37511E-5
14-103395150-G-C p.Leu1? start_lost AMN 2 80970 2.47005E-5 40485 0 2.57577E-5
14-103395155-G-T p.Arg119Leu missense AMN 3 80932 3.70682E-5 40466 0 3.18837E-5
14-103395157-T-C p.Ser120Pro missense AMN 1 80994 1.23466E-5 40497 0 NA
14-103395161-G-C p.Gly121Ala missense AMN 1 81092 1.23317E-5 40546 0 NA
14-103395162-G-A p.Gly121Gly synonymous AMN 223 81092 0.00274996 40546 0 0.00739843
14-103395163-GA-G p.Asp122fs frameshift AMN 1 81110 1.23289E-5 40555 0 NA
14-103395170-C-T p.Ala124Val missense AMN 1 81084 1.23329E-5 40542 0 NA
14-103395173-C-G p.Pro125Arg missense AMN 1 81240 1.23092E-5 40620 0 NA
14-103395177-C-T p.Gly126Gly synonymous AMN 1 81232 1.23104E-5 40616 0 NA
14-103395189-G-A p.Val130Val synonymous AMN 1 81176 1.23189E-5 40588 0 NA
14-103395196-G-A p.Glu133Lys missense AMN 1 81028 1.23414E-5 40514 0 4.15555E-6
14-103395196-G-C p.Glu133Gln missense AMN 1 81028 1.23414E-5 40514 0 NA
14-103395202-G-A p.Val135Met missense AMN 1 81016 1.23432E-5 40508 0 8.62173E-6
14-103395211-C-T p.Arg138Cys missense AMN 5 81352 6.14613E-5 40676 0 1.71556E-5
14-103395212-G-T p.Arg138Leu missense AMN 1 81304 1.22995E-5 40652 0 3.18918E-5
14-103395223-GTCT-G p.Phe144del disruptive_inframe_deletion AMN 1 81474 1.22739E-5 40737 0 NA
14-103395225-C-CTTCTTTCCG p.Phe143_Pro145dup conservative_inframe_insertion AMN 2 81508 2.45375E-5 40754 0 3.18776E-5
14-103395228-C-G p.Phe143Leu missense AMN 1 81486 1.2272E-5 40743 0 NA
14-103395233-C-T p.Pro145Leu missense AMN 1 81464 1.22754E-5 40732 0 NA
14-103395239-G-C p.Ser147Thr missense AMN 3 81410 3.68505E-5 40705 0 3.18715E-5
14-103395246-C-G p.Ser149Ser synonymous AMN 1 81346 1.22932E-5 40673 0 NA
14-103395246-C-T p.Ser149Ser synonymous AMN 1 81346 1.22932E-5 40673 0 NA
14-103395247-T-C p.Phe150Leu missense AMN 4 81296 4.92029E-5 40648 0 6.3743E-5
14-103395247-T-G p.Phe150Val missense AMN 1 81296 1.23007E-5 40648 0 NA
14-103395253-G-A p.Val152Met missense AMN 1 81020 1.23426E-5 40510 0 4.31429E-5
14-103395255-G-A p.Val152Val synonymous AMN 2 81064 2.46719E-5 40532 0 2.58875E-5
14-103395261-C-T p.Leu154Leu synonymous AMN 2 80828 2.47439E-5 40414 0 8.67077E-6
14-103395266-C-G p.Pro156Arg missense AMN 1 80708 1.23903E-5 40354 0 1.26082E-5
14-103395268-G-A p.Gly157Ser missense AMN 2 80578 2.48207E-5 40289 0 8.70216E-6
14-103395271-G-A p.Ala158Thr missense AMN 1 80358 1.24443E-5 40179 0 3.49162E-5
14-103395279-C-T p.Pro44Pro splice_region+synonymous AMN 1 80014 1.24978E-5 40007 0 1.27173E-5
14-103395280-G-T c.132+1G>T splice_donor AMN 2 79902 2.50307E-5 39951 0 8.80235E-6
14-103395299-C-T p.Ser167Leu missense AMN 1 78968 1.26634E-5 39484 0 5.04032E-4
14-103395302-C-A p.Ala168Asp missense AMN 2 78702 2.54123E-5 39351 0 5.04032E-4
14-103395305-T-C p.Leu169Pro missense AMN 1 78450 1.2747E-5 39225 0 NA
14-103395312-G-GAC c.513_513+1insAC splice_donor AMN 1 77638 1.28803E-5 38819 0 NA
14-103395314-T-TTCACGCGC c.513+2_513+3insTCACGCGC splice_region AMN 1 77302 1.29363E-5 38651 0 NA
14-103395314-T-C c.513+2T>C splice_donor AMN 1 77302 1.29363E-5 38651 0 2.60306E-5
14-103395469-C-G p.Arg175Arg synonymous AMN 1 57098 1.75137E-5 28549 0 NA
14-103395470-G-A p.Asp176Asn missense AMN 1 57364 1.74325E-5 28682 0 6.37714E-5
14-103395471-A-G p.Asp176Gly missense AMN 1 57114 1.75088E-5 28557 0 NA
14-103395476-G-A p.Asp178Asn missense AMN 3 56418 5.31745E-5 28209 0 6.37877E-5
14-103395490-C-T p.Phe182Phe synonymous AMN 1 53786 1.85922E-5 26893 0 NA
14-103395499-C-T p.Ser185Ser synonymous AMN 1 51328 1.94825E-5 25664 0 NA
14-103395510-G-A p.Arg189His missense AMN 2 49274 4.05894E-5 24637 0 1.11897E-5
14-103395516-G-T p.Arg191Leu missense AMN 1 48326 2.06928E-5 24163 0 5.09165E-4
14-103395532-C-A p.Gly196Gly synonymous AMN 1 46154 2.16666E-5 23077 0 5.09684E-4
14-103395535-G-T p.Ala197Ala synonymous AMN 2 45982 4.34953E-5 22991 0 6.13459E-5
14-103395542-G-A p.Val200Met missense AMN 1 45586 2.19366E-5 22793 0 9.56999E-5
14-103395547-C-A p.Gly201Gly synonymous AMN 1 45216 2.21161E-5 22608 0 1.83648E-4
14-103395547-C-T p.Gly201Gly synonymous AMN 1 45220 2.21141E-5 22610 0 NA
14-103395550-C-G p.Pro202Pro synonymous AMN 2 44902 4.45414E-5 22451 0 NA
14-103395562-G-C p.Ala206Ala synonymous AMN 1 44448 2.24982E-5 22224 0 6.83686E-6
14-103395575-T-C p.Cys211Arg missense AMN 2 44036 4.54174E-5 22018 0 NA
14-103395598-G-T c.651+3G>T splice_region AMN 3 43692 6.86625E-5 21846 0 2.23328E-4
14-103395757-C-T c.652-8C>T splice_region AMN 1 58178 1.71886E-5 29089 0 NA
14-103395761-C-T c.652-4C>T splice_region AMN 1 59126 1.6913E-5 29563 0 NA
14-103395766-C-A p.Ala218Glu missense+splice_region AMN 1 59718 1.67454E-5 29859 0 NA
14-103395777-A-C p.Ile222Leu missense AMN 1 62448 1.60133E-5 31224 0 NA
14-103395798-C-A p.Pro229Thr missense AMN 1 67148 1.48925E-5 33574 0 0.00130548
14-103395799-C-G p.Pro229Arg missense AMN 1 67444 1.48271E-5 33722 0 NA
14-103395800-C-T p.Pro229Pro synonymous AMN 1 67628 1.47868E-5 33814 0 7.7006E-6
14-103395808-G-T p.Gly232Val missense AMN 2 69230 2.88892E-5 34615 0 NA
14-103395816-C-G p.Pro235Ala missense AMN 2 71268 2.80631E-5 35634 0 9.56938E-5
14-103395818-C-G p.Pro235Pro synonymous AMN 2 71562 2.79478E-5 35781 0 3.03458E-5
14-103395820-A-T p.Gln236Leu missense AMN 1 71906 1.3907E-5 35953 0 NA
14-103395825-G-A p.Ala238Thr missense AMN 2 72552 2.75664E-5 36276 0 1.91351E-4
14-103395825-G-C p.Ala238Pro missense AMN 4 72552 5.51329E-5 36276 0 7.55059E-6
14-103395830-C-T p.Cys239Cys synonymous AMN 1 73590 1.35888E-5 36795 0 NA
14-103395832-A-C p.His240Pro missense AMN 1 73938 1.35248E-5 36969 0 NA
14-103395843-C-T p.Arg244Trp missense AMN 1 75058 1.3323E-5 37529 0 6.37552E-5
14-103395848-C-T p.Pro245Pro synonymous AMN 12 75556 1.58823E-4 37778 0 3.18898E-4
14-103395849-C-A p.Gln246Lys missense AMN 1 75648 1.32191E-5 37824 0 NA
14-103395855-C-T p.Gln248* stop_gained AMN 1 76030 1.31527E-5 38015 0 NA
14-103395863-T-G p.Cys250Trp missense AMN 1 76542 1.30647E-5 38271 0 7.26143E-6
14-103395867-C-G p.Leu252Val missense AMN 1 76736 1.30317E-5 38368 0 NA
14-103395881-C-T c.760+8C>T splice_region AMN 3 77096 3.89125E-5 38548 0 NA
14-103395992-G-A p.Gly254Glu missense+splice_region AMN 1 80164 1.24744E-5 40082 0 NA
14-103396000-G-T p.Val257Leu missense AMN 1 80542 1.24159E-5 40271 0 NA
14-103396004-T-C p.Leu258Ser missense AMN 362 80582 0.00449232 40291 2 0.00596073
14-103396006-C-T p.Leu259Leu synonymous AMN 1 80614 1.24048E-5 40307 0 NA
14-103396012-C-A p.His261Asn missense AMN 1 80710 1.239E-5 40355 0 NA
14-103396014-C-T p.His261His synonymous AMN 1 80724 1.23879E-5 40362 0 5.97729E-5
14-103396014-C-G p.His261Gln missense AMN 2 80724 2.47758E-5 40362 0 NA
14-103396016-G-A p.Gly262Asp missense AMN 1 80742 1.23851E-5 40371 0 NA
14-103396029-C-T p.Asp266Asp synonymous AMN 1 80842 1.23698E-5 40421 0 5.84864E-5
14-103396033-G-A p.Glu268Lys missense AMN 1 80852 1.23683E-5 40426 0 NA
14-103396036-C-T p.Arg269Trp missense AMN 7 80850 8.65801E-5 40425 0 0.00214823
14-103396042-C-T p.Arg271Trp missense AMN 6 80892 7.4173E-5 40446 0 3.18532E-5
14-103396042-C-G p.Arg271Gly missense AMN 2 80892 2.47243E-5 40446 0 6.42467E-6
14-103396060-A-G p.Thr277Ala missense AMN 533 80892 0.00658903 40446 6 0.00969828
14-103396061-C-T p.Thr277Ile missense AMN 1 80916 1.23585E-5 40458 0 3.23595E-5
14-103396064-T-C p.Phe278Ser missense AMN 1 80914 1.23588E-5 40457 0 NA
14-103396066-C-T p.Leu279Leu synonymous AMN 16 80928 1.97707E-4 40464 0 4.46002E-4
14-103396068-G-A p.Leu279Leu synonymous AMN 4 80926 4.94279E-5 40463 1 NA
14-103396072-C-T p.Leu281Leu splice_region+synonymous AMN 4 80920 4.94315E-5 40460 0 1.69372E-4
14-103396073-T-C p.Leu281Pro missense+splice_region AMN 2 80916 2.4717E-5 40458 0 1.75377E-4
14-103396257-C-T c.844-4C>T splice_region AMN 1 79400 1.25945E-5 39700 0 NA
14-103396258-C-T c.844-3C>T splice_region AMN 26 79418 3.27382E-4 39709 0 7.64672E-4
14-103396272-C-G p.His285Gln missense AMN 7 79542 8.80038E-5 39771 0 3.18735E-5
14-103396279-C-T p.Gln288* stop_gained AMN 1 79560 1.25691E-5 39780 0 1.17517E-5
14-103396288-G-A p.Val291Met missense AMN 1 79446 1.25872E-5 39723 0 5.15464E-4
14-103396300-C-T p.Pro295Ser missense AMN 1 79330 1.26056E-5 39665 0 NA
14-103396304-G-T p.Arg296Leu missense AMN 1 79168 1.26314E-5 39584 0 NA
14-103396309-T-C p.Ser298Pro missense AMN 1 78972 1.26627E-5 39486 0 2.30691E-5
14-103396311-C-T p.Ser298Ser synonymous AMN 1 79066 1.26477E-5 39533 0 5.75367E-6
14-103396318-C-G p.Arg301Gly missense AMN 1 78898 1.26746E-5 39449 0 NA
14-103396319-G-A p.Arg301His missense AMN 3 78942 3.80026E-5 39471 0 5.0015E-5
14-103396320-T-C p.Arg301Arg synonymous AMN 2 78958 2.53299E-5 39479 0 NA
14-103396321-G-C p.Glu302Gln missense AMN 1 78968 1.26634E-5 39484 0 NA
14-103396326-C-T p.Ala303Ala synonymous AMN 29 78572 3.69088E-4 39286 0 9.55831E-4
14-103396331-C-T p.Thr305Met missense AMN 1 78364 1.2761E-5 39182 0 5.90368E-6
14-103396332-G-A p.Thr305Thr synonymous AMN 2 78350 2.55265E-5 39175 0 5.10517E-5
14-103396335-G-A p.Glu306Glu synonymous AMN 1 78202 1.27874E-5 39101 0 4.18535E-5
14-103396336-A-T p.Ile307Phe missense AMN 2 78120 2.56016E-5 39060 0 NA
14-103396345-G-A p.Val310Met missense AMN 7 77368 9.04767E-5 38684 0 4.7856E-4
14-103396362-G-T p.Gly315Gly synonymous AMN 1 74520 1.34192E-5 37260 0 3.1902E-5
14-103396363-C-T p.Pro316Ser missense AMN 1 74418 1.34376E-5 37209 0 3.1902E-5
14-103396371-A-C p.Thr318Thr synonymous AMN 1 72256 1.38397E-5 36128 0 6.67628E-6
14-103396371-A-G p.Thr318Thr synonymous AMN 2 72256 2.76794E-5 36128 0 0.00158898
14-103396374-C-A p.Gly319Gly synonymous AMN 3 70994 4.22571E-5 35497 0 6.82482E-6
14-103396376-G-A p.Gly320Glu missense AMN 1 70506 1.41832E-5 35253 0 6.38651E-5
14-103396380-G-A p.Ala321Ala synonymous AMN 2 68828 2.90579E-5 34414 0 NA
14-103396384-C-T p.Arg323Trp missense AMN 1 66924 1.49423E-5 33462 0 4.20521E-5
14-103396386-G-A p.Arg323Arg synonymous AMN 1 66312 1.50802E-5 33156 0 7.05706E-6
14-103396406-C-A p.Ala330Glu missense AMN 1 60016 1.66622E-5 30008 0 5.84405E-4
14-103396431-C-A c.1006+8C>A splice_region AMN 3 52466 5.71799E-5 26233 0 6.48172E-5
14-103396503-C-T p.Gly336Gly splice_region+synonymous AMN 1 44922 2.22608E-5 22461 0 NA
14-103396509-C-A p.Ala338Ala synonymous AMN 1 44600 2.24215E-5 22300 0 NA
14-103396512-C-T p.Leu339Leu synonymous AMN 1 44236 2.2606E-5 22118 0 1.0453E-5
14-103396514-G-A p.Gly340Asp missense AMN 4 43910 9.10954E-5 21955 0 2.28624E-4
14-103396515-C-T p.Gly340Gly synonymous AMN 5 43730 1.14338E-4 21865 0 9.65313E-5
14-103396517-T-A p.Val341Asp missense AMN 1 43690 2.28885E-5 21845 0 3.2202E-5
14-103396527-G-A p.Ala344Ala synonymous AMN 1 42948 2.3284E-5 21474 0 3.22061E-5
14-103396551-C-A p.His352Gln missense AMN 16 41468 3.8584E-4 20734 0 0.00172216
14-103396552-G-C p.Val353Leu missense AMN 1 41436 2.41336E-5 20718 0 1.37257E-5
14-103396566-CGCGGCTGGGCTGGCGGGCGGCGTG-C p.Gly360_Ala367del disruptive_inframe_deletion AMN 3 37680 7.96178E-5 18840 0 1.29727E-4
14-103396571-C-G p.Ala359Gly missense AMN 1 37404 2.67351E-5 18702 0 NA
14-103396572-T-C p.Ala359Ala synonymous AMN 1 37310 2.68025E-5 18655 0 NA
14-103396573-GGGCTGGCGGGCGGCGTGGC-G p.Ala362fs frameshift AMN 1 37360 2.67666E-5 18680 0 NA
14-103396574-G-C p.Gly360Ala missense AMN 1 37316 2.67982E-5 18658 0 NA
14-103396579-G-T p.Ala362Ser missense AMN 1 36864 2.71267E-5 18432 0 NA
14-103396581-G-A p.Ala362Ala synonymous AMN 2 36758 5.44099E-5 18379 0 1.95211E-4
14-103396589-T-A p.Val365Glu missense AMN 1 35922 2.78381E-5 17961 0 4.16389E-5
14-103396594-G-A p.Ala367Thr missense AMN 1 35894 2.78598E-5 17947 0 4.30663E-5
14-103396597-G-A p.Ala368Thr missense AMN 1 35938 2.78257E-5 17969 0 NA
14-103396610-C-T p.Ala372Val missense AMN 2 35652 5.60978E-5 17826 0 4.5527E-5
14-103396611-G-GCTGCTGGTC p.Val378_Ala379insLeuLeuVal disruptive_inframe_insertion AMN 1 35672 2.80332E-5 17836 0 3.24929E-5
14-103396632-G-T p.Ala379Ala synonymous AMN 15 35032 4.2818E-4 17516 0 0.00145962
14-103396636-C-T p.Pro381Ser missense AMN 3 35166 8.53097E-5 17583 0 1.2971E-4
14-103396640-T-C p.Leu382Pro missense AMN 3 35750 8.39161E-5 17875 0 NA
14-103396659-G-T p.Arg388Ser missense AMN 2 36150 5.5325E-5 18075 0 NA
14-103396737-C-T c.1170-6C>T splice_region AMN 47 40148 0.00117067 20074 0 0.00571792
14-103396740-C-G c.1170-3C>G splice_region AMN 1 40260 2.48385E-5 20130 0 NA
14-103396749-G-A p.Arg392Arg synonymous AMN 3 40558 7.39681E-5 20279 0 2.56064E-5
14-103396750-A-C p.Arg393Arg synonymous AMN 2 40582 4.92829E-5 20291 0 3.20431E-5
14-103396755-C-A p.His394Gln missense AMN 1 40626 2.46148E-5 20313 0 NA
14-103396758-G-A p.Glu395Glu synonymous AMN 1 40796 2.45122E-5 20398 0 8.47185E-6
14-103396760-C-T p.Ala396Val missense AMN 3 40750 7.36196E-5 20375 0 4.25315E-5
14-103396764-G-A p.Ala397Ala synonymous AMN 1 40912 2.44427E-5 20456 0 6.94444E-4
14-103396770-G-C p.Pro399Pro synonymous AMN 3 41128 7.2943E-5 20564 0 1.66653E-5
14-103396773-T-C p.Ala400Ala synonymous AMN 4 41294 9.68664E-5 20647 0 3.20349E-5
14-103396794-C-T p.Arg407Arg synonymous AMN 1 42186 2.37045E-5 21093 0 6.39509E-5
14-103396799-C-G p.Pro409Arg missense AMN 1 42468 2.35471E-5 21234 0 NA
14-103396803-G-A p.Val410Val synonymous AMN 2 42590 4.69594E-5 21295 0 NA
14-103396806-C-G p.Phe411Leu missense AMN 1 42662 2.34401E-5 21331 0 1.58491E-5
14-103396812-GA-TG p.ValThr413ValAla missense AMN 3 43054 6.96799E-5 21527 0 NA
14-103396821-C-T p.Ser416Ser synonymous AMN 1 43630 2.292E-5 21815 0 1.55555E-5
14-103396830-G-A p.Leu419Leu splice_region+synonymous AMN 1 44400 2.25225E-5 22200 0 NA
14-103396837-G-T c.1257+7G>T splice_region AMN 1 44680 2.23814E-5 22340 0 NA
14-103396905-C-T c.1258-8C>T splice_region AMN 2 58266 3.43253E-5 29133 0 1.29366E-4
14-103396921-G-GC p.Arg423fs frameshift AMN 1 61168 1.63484E-5 30584 0 NA
14-103396922-C-T p.Arg423Trp missense AMN 4 61374 6.51742E-5 30687 0 NA
14-103396925-C-G p.Arg424Gly missense AMN 3 61872 4.84872E-5 30936 0 1.80278E-4
14-103396926-G-A p.Arg130Gln missense+splice_region AMN 5 62342 8.02027E-5 31171 0 0.00125471
14-103396935-TGGTTCCGAAGGCGGCCGCAGACA-T p.Val428fs frameshift AMN 1 64138 1.55914E-5 32069 0 NA
14-103396936-G-C p.Leu427Leu synonymous AMN 2 64332 3.10887E-5 32166 0 9.56267E-5
14-103396942-G-C p.Pro429Pro synonymous AMN 3 64668 4.63908E-5 32334 0 NA
14-103396946-G-A p.Ala431Thr missense AMN 1 64992 1.53865E-5 32496 0 NA
14-103396947-C-G p.Ala431Gly missense AMN 1 64992 1.53865E-5 32496 0 NA
14-103396953-C-T p.Ala433Val missense AMN 1 66576 1.50204E-5 33288 0 8.65801E-5
14-103396954-A-G n.433A>G splice_region AMN 1 66892 1.49495E-5 33446 0 NA
14-103396956-A-G p.Asp434Gly missense AMN 1 67114 1.49E-5 33557 0 5.52273E-5
14-103396966-CCA-C p.His438fs frameshift AMN 1 69232 1.44442E-5 34616 0 2.05381E-5
14-103396979-G-A p.Val442Ile missense AMN 1 69256 1.44392E-5 34628 0 0.00102249
14-103396985-C-T p.Pro444Ser missense AMN 1 69140 1.44634E-5 34570 0 4.65155E-6
14-103396993-C-CGCCGGG p.Gly448_Ala449dup disruptive_inframe_insertion AMN 805 67756 0.0118809 33878 13 0.0169621
14-103396995-C-T p.Ala447Val missense AMN 1 67454 1.48249E-5 33727 0 4.79451E-6
14-103396998-G-GGGCCGA p.Glu452_Ala453dup conservative_inframe_insertion AMN 43 67238 6.39519E-4 33619 1 5.07567E-4
14-103396998-G-A p.Gly448Glu missense AMN 27 67236 4.01571E-4 33618 0 0.00205973
14-103397003-G-A p.Glu450Lys missense AMN 2 66346 3.0145E-5 33173 0 NA
14-103397004-A-G p.Glu450Gly missense AMN 15 65984 2.27328E-4 32992 0 0.00876289
14-103397016-G-T p.Ter454Leuext*? stop_lost AMN 1 64490 1.55063E-5 32245 0 5.30425E-6
14-103398933-C-T n.2048-8C>T splice_region AMN 2 44422 4.50227E-5 22211 0 NA
14-103399082-G-T n.2188+1G>T splice_donor AMN 2 44446 4.49984E-5 22223 0 3.18512E-5
14-103399085-A-C n.2188+4A>C splice_region AMN 1 44452 2.24962E-5 22226 0 3.18654E-5
14-103399086-G-A n.2188+5G>A splice_region AMN 1 44428 2.25083E-5 22214 0 NA
14-103399347-C-T n.2189-3C>T splice_region AMN 24 44288 5.41908E-4 22144 0 2.8699E-4