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Gene: DSEL

DECIPHER
Ensembl
GeneCards
HGNC
IGMDx
OMIM
RVIS


Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
18-65178209-A-G p.Ter1223Glnext*? stop_lost DSEL 1 80980 1.23487E-5 40490 0 NA
18-65178223-G-C p.Pro1218Arg missense DSEL 1 80986 1.23478E-5 40493 0 NA
18-65178233-G-A p.Leu1215Leu synonymous DSEL 1 80990 1.23472E-5 40495 0 4.22162E-6
18-65178235-C-T p.Arg1214His missense DSEL 13 80990 1.60514E-4 40495 0 1.41158E-4
18-65178238-T-G p.Asp1213Ala missense DSEL 45 80992 5.5561E-4 40496 0 0.00504032
18-65178253-C-T p.Cys1208Tyr missense DSEL 2 80998 2.4692E-5 40499 0 NA
18-65178256-A-T p.Ile1207Asn missense DSEL 1 81004 1.23451E-5 40502 0 NA
18-65178269-G-A p.Leu1203Leu synonymous DSEL 4 80996 4.93852E-5 40498 0 8.36162E-6
18-65178273-A-G p.Ile1201Ile synonymous DSEL 1 80994 1.23466E-5 40497 0 NA
18-65178274-A-T p.Ile1201Asn missense DSEL 1 80992 1.23469E-5 40496 0 NA
18-65178280-T-C p.Asp1199Gly missense DSEL 2 80998 2.4692E-5 40499 0 4.78981E-5
18-65178291-G-C p.Asn1195Lys missense DSEL 2 80990 2.46944E-5 40495 0 6.3678E-5
18-65178331-C-G p.Gly1182Ala missense DSEL 1 80962 1.23515E-5 40481 0 NA
18-65178332-C-T p.Gly1182Arg missense DSEL 2 80966 2.47017E-5 40483 0 NA
18-65178335-C-T p.Glu1181Lys missense DSEL 1 80964 1.23512E-5 40482 0 NA
18-65178336-A-G p.Tyr1180Tyr synonymous DSEL 1 80962 1.23515E-5 40481 0 NA
18-65178356-T-G p.Asn1174His missense DSEL 2 80956 2.47048E-5 40478 0 6.3678E-5
18-65178374-A-G p.Leu1168Leu synonymous DSEL 1 80956 1.23524E-5 40478 0 3.18471E-5
18-65178378-T-G p.Gln1166His missense DSEL 4 80952 4.9412E-5 40476 0 9.89495E-5
18-65178381-G-T p.Asn1165Lys missense DSEL 1 80958 1.23521E-5 40479 0 8.24633E-6
18-65178390-A-C p.Ala1162Ala synonymous DSEL 1 80946 1.23539E-5 40473 0 NA
18-65178391-G-T p.Ala1162Asp missense DSEL 2 80940 2.47097E-5 40470 0 3.97966E-6
18-65178394-G-A p.Pro1161Leu missense DSEL 1 80938 1.23551E-5 40469 0 NA
18-65178410-CAAGA-C p.Phe1154fs frameshift DSEL 1 80930 1.23564E-5 40465 0 NA
18-65178418-G-A p.Ala1153Val missense DSEL 1 80910 1.23594E-5 40455 0 NA
18-65178426-C-G p.Arg1150Ser missense DSEL 2 80888 2.47255E-5 40444 0 2.47774E-5
18-65178436-G-C p.Thr1147Ser missense DSEL 1 80878 1.23643E-5 40439 0 NA
18-65178443-G-A p.Gln1145* stop_gained DSEL 2 80880 2.4728E-5 40440 0 1.65388E-5
18-65178444-A-T p.Pro1144Pro synonymous DSEL 1 80874 1.23649E-5 40437 0 3.98667E-6
18-65178451-T-C p.His1142Arg missense DSEL 1 80870 1.23655E-5 40435 0 NA
18-65178457-A-G p.Ile1140Thr missense DSEL 1 80868 1.23658E-5 40434 0 NA
18-65178464-C-G p.Glu1138Gln missense DSEL 1 80872 1.23652E-5 40436 0 NA
18-65178473-C-G p.Val1135Leu missense DSEL 1 80882 1.23637E-5 40441 0 3.1841E-5
18-65178478-T-C p.Gln1133Arg missense DSEL 1 80886 1.23631E-5 40443 0 NA
18-65178488-T-C p.Thr1130Ala missense DSEL 1 80892 1.23622E-5 40446 0 6.37146E-5
18-65178497-A-T p.Leu1127Met missense DSEL 1 80924 1.23573E-5 40462 0 NA
18-65178507-T-C p.Ile1123Met missense DSEL 70 80918 8.65073E-4 40459 0 0.00143294
18-65178516-G-C p.Ala1120Ala synonymous DSEL 1 80920 1.23579E-5 40460 0 NA
18-65178560-C-T p.Val1106Met missense DSEL 1 80938 1.23551E-5 40469 0 NA
18-65178562-G-A p.Ala1105Val missense DSEL 10 80934 1.23557E-4 40467 0 6.25E-4
18-65178570-T-C p.Lys1102Lys synonymous DSEL 1 80930 1.23564E-5 40465 0 NA
18-65178587-C-T p.Glu1097Lys missense DSEL 1 80910 1.23594E-5 40455 0 3.71496E-5
18-65178588-T-C p.Lys1096Lys synonymous DSEL 3 80914 3.70764E-5 40457 0 1.23842E-5
18-65178593-T-G p.Arg1095Arg synonymous DSEL 2 80894 2.47237E-5 40447 0 NA
18-65178594-C-T p.Leu1094Leu synonymous DSEL 1 80894 1.23619E-5 40447 0 4.13141E-6
18-65178609-G-A p.Phe1089Phe synonymous DSEL 8 80852 9.89462E-5 40426 0 1.27397E-4
18-65178630-G-C p.Asn1082Lys missense DSEL 1 80840 1.23701E-5 40420 0 3.18512E-5
18-65178646-C-T p.Gly1077Asp missense DSEL 2 80786 2.47568E-5 40393 0 3.18634E-5
18-65178650-CCTCT-C p.Ile1074fs frameshift DSEL 2 80802 2.47519E-5 40401 0 1.27413E-4
18-65178652-T-G p.Glu1075Ala missense DSEL 1 80806 1.23753E-5 40403 0 1.23727E-4
18-65178654-T-C p.Ile1074Met missense DSEL 1 80798 1.23765E-5 40399 0 8.35729E-6
18-65178678-C-T p.Glu1066Glu synonymous DSEL 1 80842 1.23698E-5 40421 0 3.18451E-5
18-65178682-G-A p.Pro1065Leu missense DSEL 2 80840 2.47402E-5 40420 0 4.08704E-6
18-65178683-G-T p.Pro1065Thr missense DSEL 75 80834 9.27827E-4 40417 0 0.00191156
18-65178698-A-G p.Ser1060Pro missense DSEL 2 80852 2.47366E-5 40426 0 9.55171E-5
18-65178700-T-A p.Tyr1059Phe missense DSEL 1 80854 1.2368E-5 40427 0 NA
18-65178716-T-C p.Ser1054Gly missense DSEL 1 80864 1.23664E-5 40432 0 1.66472E-5
18-65178718-T-C p.Asn1053Ser missense DSEL 4 80872 4.94609E-5 40436 0 3.61931E-5
18-65178725-A-G p.Leu1051Leu synonymous DSEL 3 80872 3.70957E-5 40436 0 1.20322E-5
18-65178745-C-T p.Arg1044Gln missense DSEL 1 80840 1.23701E-5 40420 0 3.18695E-5
18-65178758-C-T p.Val1040Ile missense DSEL 1 80836 1.23707E-5 40418 0 NA
18-65178761-T-C p.Ile1039Val missense DSEL 1 80822 1.23729E-5 40411 0 8.27376E-6
18-65178777-C-T p.Ser1033Ser synonymous DSEL 2 80788 2.47562E-5 40394 0 1.65347E-5
18-65178779-A-G p.Ser1033Pro missense DSEL 23 80772 2.84752E-4 40386 0 1.11751E-4
18-65178782-CT-C p.Ala1032fs frameshift DSEL 1 80768 1.23811E-5 40384 0 8.2672E-6
18-65178797-GA-G p.Gln1027fs frameshift DSEL 2 80754 2.47666E-5 40377 0 8.2672E-6
18-65178816-C-T p.Thr1020Thr synonymous DSEL 1 80764 1.23818E-5 40382 0 9.55414E-5
18-65178834-T-C p.Leu1014Leu synonymous DSEL 2 80820 2.47464E-5 40410 0 2.38973E-5
18-65178843-C-A p.Val1011Val synonymous DSEL 1 80830 1.23716E-5 40415 0 NA
18-65178843-C-T p.Val1011Val synonymous DSEL 1 80830 1.23716E-5 40415 0 1.65593E-5
18-65178851-G-A p.Arg1009Cys missense DSEL 1 80852 1.23683E-5 40426 0 1.6567E-5
18-65178869-C-T p.Val1003Ile missense DSEL 1 80892 1.23622E-5 40446 0 8.30413E-6
18-65178870-C-G p.Leu1002Leu synonymous DSEL 15 80892 1.85432E-4 40446 1 0.00151057
18-65178880-C-A p.Arg999Met missense DSEL 2 80900 2.47219E-5 40450 0 3.1837E-5
18-65178881-T-C p.Arg999Gly missense DSEL 1 80896 1.23616E-5 40448 0 NA
18-65178895-T-C p.Tyr994Cys missense DSEL 2 80900 2.47219E-5 40450 0 NA
18-65178905-C-T p.Asp991Asn missense DSEL 14 80888 1.73079E-4 40444 0 3.1839E-4
18-65178907-C-CT p.Arg990fs frameshift DSEL 1 80884 1.23634E-5 40442 0 8.34669E-6
18-65178907-C-T p.Arg990Lys missense DSEL 1 80884 1.23634E-5 40442 0 NA
18-65178917-C-T p.Ala987Thr missense DSEL 1 80850 1.23686E-5 40425 0 3.18492E-5
18-65178918-G-A p.Gly986Gly synonymous DSEL 11 80846 1.36061E-4 40423 0 1.56121E-4
18-65178931-C-T p.Ser982Asn missense DSEL 1 80862 1.23667E-5 40431 0 4.00635E-6
18-65178941-C-T p.Glu979Lys missense DSEL 2 80852 2.47366E-5 40426 0 4.00747E-6
18-65178942-T-C p.Pro978Pro synonymous DSEL 2 80854 2.47359E-5 40427 0 NA
18-65178944-G-A p.Pro978Ser missense DSEL 3 80844 3.71085E-5 40422 0 3.20574E-5
18-65178962-T-C p.Lys972Glu missense DSEL 1 80882 1.23637E-5 40441 0 8.01597E-6
18-65178970-C-A p.Arg969Ile missense DSEL 2 80902 2.47213E-5 40451 0 NA
18-65178983-T-C p.Lys965Glu missense DSEL 1 80924 1.23573E-5 40462 0 NA
18-65179012-C-T p.Gly955Asp missense DSEL 4 80960 4.94071E-5 40480 0 NA
18-65179022-G-A p.Pro952Ser missense DSEL 927 80968 0.011449 40484 5 0.00968899
18-65179026-A-G p.His950His synonymous DSEL 1 80980 1.23487E-5 40490 0 NA
18-65179029-C-A p.Leu949Leu synonymous DSEL 1 80984 1.23481E-5 40492 0 3.98807E-6
18-65179031-G-A p.Leu949Leu synonymous DSEL 1 80984 1.23481E-5 40492 0 NA
18-65179049-G-A p.His943Tyr missense DSEL 1 80998 1.2346E-5 40499 0 1.65451E-5
18-65179057-G-A p.Thr940Ile missense DSEL 19 81010 2.34539E-4 40505 0 6.25E-4
18-65179063-T-C p.Gln938Arg missense DSEL 1 81022 1.23423E-5 40511 0 8.26105E-6
18-65179073-A-C p.Ser935Ala missense DSEL 2 81030 2.46822E-5 40515 0 2.47562E-5
18-65179088-G-A p.Arg930* stop_gained DSEL 1 81038 1.23399E-5 40519 0 NA
18-65179096-C-T p.Arg927His missense DSEL 11 81038 1.35739E-4 40519 0 5.03525E-4
18-65179109-T-C p.Ser923Gly missense DSEL 1 81054 1.23375E-5 40527 0 NA
18-65179111-C-A p.Arg922Leu missense DSEL 1 81046 1.23387E-5 40523 0 1.64785E-5
18-65179112-G-A p.Arg922Cys missense DSEL 1 81052 1.23378E-5 40526 0 3.18431E-5
18-65179119-T-C p.Ser919Ser synonymous DSEL 1 81048 1.23384E-5 40524 0 NA
18-65179122-C-T p.Val918Val synonymous DSEL 1 81042 1.23393E-5 40521 0 NA
18-65179124-C-G p.Val918Leu missense DSEL 1 81042 1.23393E-5 40521 0 NA
18-65179126-T-C p.Lys917Arg missense DSEL 2 81044 2.4678E-5 40522 0 NA
18-65179135-C-G p.Cys914Ser missense DSEL 1 81038 1.23399E-5 40519 0 NA
18-65179145-C-T p.Val911Ile missense DSEL 1 81042 1.23393E-5 40521 0 3.18512E-5
18-65179155-G-A p.Ile907Ile synonymous DSEL 1 81040 1.23396E-5 40520 0 1.59091E-5
18-65179161-C-T p.Leu905Leu synonymous DSEL 9 81028 1.11073E-4 40514 0 6.25E-4
18-65179163-A-G p.Leu905Leu synonymous DSEL 4 81036 4.93608E-5 40518 0 0.00125
18-65179166-C-T p.Glu904Lys missense DSEL 1 81048 1.23384E-5 40524 0 3.97719E-6
18-65179178-T-C p.Ile900Val missense DSEL 5 81034 6.17025E-5 40517 0 4.11896E-5
18-65179184-T-C p.Ile898Val missense DSEL 1 81032 1.23408E-5 40516 0 1.19315E-5
18-65179199-C-T p.Val893Ile missense DSEL 75 81020 9.25697E-4 40510 0 0.00251762
18-65179205-T-G p.Ile891Leu missense DSEL 1 81016 1.23432E-5 40508 0 5.03525E-4
18-65179217-C-CA p.Asp887fs frameshift DSEL 1 80988 1.23475E-5 40494 0 3.97731E-6
18-65179220-T-C p.Ser886Gly missense DSEL 2 80978 2.46981E-5 40489 0 3.57978E-5
18-65179227-G-A p.Phe883Phe synonymous DSEL 1 80964 1.23512E-5 40482 0 3.19959E-5
18-65179253-C-T p.Ala875Thr missense DSEL 1 80900 1.23609E-5 40450 0 NA
18-65179258-G-A p.Ser873Leu missense DSEL 2 80878 2.47286E-5 40439 0 NA
18-65179269-T-C p.Ser869Ser synonymous DSEL 2 80836 2.47415E-5 40418 0 2.38777E-5
18-65179272-G-T p.Thr868Thr synonymous DSEL 1 80832 1.23713E-5 40416 0 NA
18-65179274-T-A p.Thr868Ser missense DSEL 1 80834 1.2371E-5 40417 0 NA
18-65179285-T-C p.Asp864Gly missense DSEL 4 80798 4.95062E-5 40399 0 6.25E-4
18-65179307-C-T p.Gly857Arg missense DSEL 1 80808 1.2375E-5 40404 0 NA
18-65179312-G-A p.Ser855Phe missense DSEL 1 80794 1.23772E-5 40397 0 NA
18-65179327-T-C p.Lys850Arg missense DSEL 73 80824 9.03197E-4 40412 0 0.00184666
18-65179342-T-G p.Glu845Ala missense DSEL 2 80896 2.47231E-5 40448 0 NA
18-65179370-G-A p.Pro836Ser missense DSEL 1 80922 1.23576E-5 40461 0 8.25409E-6
18-65179380-A-T p.Thr832Thr synonymous DSEL 1 80908 1.23597E-5 40454 0 2.47676E-5
18-65179410-C-A p.Trp822Cys missense DSEL 12 80850 1.48423E-4 40425 0 1.27405E-4
18-65179413-C-T p.Leu821Leu synonymous DSEL 1 80842 1.23698E-5 40421 0 1.27421E-4
18-65179444-A-G p.Met811Thr missense DSEL 1 80772 1.23805E-5 40386 0 8.30192E-6
18-65179449-T-C p.Lys809Lys synonymous DSEL 4 80754 4.95332E-5 40377 0 3.98635E-5
18-65179461-A-G p.Leu805Leu synonymous DSEL 3 80778 3.71388E-5 40389 0 NA
18-65179471-C-T p.Arg802His missense DSEL 3 80778 3.71388E-5 40389 0 9.55657E-5
18-65179472-G-A p.Arg802Cys missense DSEL 34 80772 4.20938E-4 40386 0 0.00302115
18-65179506-C-T p.Leu790Leu synonymous DSEL 2 80848 2.47378E-5 40424 0 8.34154E-6
18-65179522-G-A p.Ala785Val missense DSEL 1 80868 1.23658E-5 40434 0 8.34934E-6
18-65179525-A-G p.Ile784Thr missense DSEL 1 80864 1.23664E-5 40432 0 NA
18-65179527-A-G p.Asn783Asn synonymous DSEL 1 80864 1.23664E-5 40432 0 3.99402E-6
18-65179546-G-A p.Pro777Leu missense DSEL 1 80852 1.23683E-5 40426 0 NA
18-65179547-G-A p.Pro777Ser missense DSEL 1 80854 1.2368E-5 40427 0 8.34112E-6
18-65179569-T-C p.Val769Val synonymous DSEL 1 80814 1.23741E-5 40407 0 7.97346E-6
18-65179583-T-C p.Ile765Val missense DSEL 3 80728 3.71618E-5 40364 0 1.59468E-5
18-65179590-A-C p.Thr762Thr synonymous DSEL 1 80698 1.23919E-5 40349 0 NA
18-65179592-T-C p.Thr762Ala missense DSEL 1 80694 1.23925E-5 40347 0 8.30013E-6
18-65179592-T-G p.Thr762Pro missense DSEL 1 80694 1.23925E-5 40347 0 NA
18-65179593-G-C p.Gly761Gly synonymous DSEL 1 80684 1.2394E-5 40342 0 2.49004E-5
18-65179594-C-A p.Gly761Val missense DSEL 4 80678 4.95798E-5 40339 0 9.12954E-5
18-65179598-A-G p.Leu760Leu synonymous DSEL 1 80682 1.23943E-5 40341 0 1.65928E-5
18-65179606-C-T p.Arg757Gln missense DSEL 7 80644 8.68013E-5 40322 0 7.57685E-5
18-65179627-G-A p.Ala750Val missense DSEL 1 80580 1.241E-5 40290 0 7.97442E-6
18-65179633-C-T p.Ser748Asn missense DSEL 2 80606 2.4812E-5 40303 0 2.79078E-5
18-65179646-C-T p.Gly744Ser missense DSEL 54 80622 6.69792E-4 40311 2 0.00171996
18-65179647-G-A p.Phe743Phe synonymous DSEL 1 80618 1.24042E-5 40309 0 4.13805E-5
18-65179653-C-T p.Leu741Leu synonymous DSEL 1 80654 1.23986E-5 40327 0 NA
18-65179657-T-C p.Tyr740Cys missense DSEL 327 80670 0.00405355 40335 1 0.00360688
18-65179660-T-C p.Asn739Ser missense DSEL 3 80690 3.71793E-5 40345 0 3.18801E-5
18-65179661-T-C p.Asn739Asp missense DSEL 7 80686 8.67561E-5 40343 0 3.18471E-5
18-65179674-C-A p.Leu734Leu synonymous DSEL 10 80720 1.23885E-4 40360 0 7.44171E-5
18-65179697-T-C p.Ile727Val missense DSEL 1 80776 1.23799E-5 40388 0 8.2605E-6
18-65179703-C-A p.Val725Phe missense DSEL 2 80802 2.47519E-5 40401 0 1.65177E-5
18-65179720-T-C p.Asn719Ser missense DSEL 1 80828 1.2372E-5 40414 0 3.98042E-6
18-65179724-C-G p.Val718Leu missense DSEL 1 80826 1.23723E-5 40413 0 3.98045E-6
18-65179748-G-T p.Pro710Thr missense DSEL 3 80834 3.71131E-5 40417 0 NA
18-65179750-T-C p.Asn709Ser missense DSEL 4 80822 4.94915E-5 40411 0 6.25E-4
18-65179750-T-A p.Asn709Ile missense DSEL 1 80822 1.23729E-5 40411 0 8.25137E-6
18-65179756-C-G p.Ser707Thr missense DSEL 14 80824 1.73216E-4 40412 0 3.1839E-5
18-65179781-C-T p.Val699Ile missense DSEL 1 80722 1.23882E-5 40361 0 NA
18-65179784-T-C p.Asn698Asp missense DSEL 1 80712 1.23897E-5 40356 0 1.19432E-5
18-65179788-A-G p.Tyr696Tyr synonymous DSEL 1 80702 1.23913E-5 40351 0 8.25069E-6
18-65179794-C-T p.Gly694Gly synonymous DSEL 12 80620 1.48846E-4 40310 0 2.54793E-4
18-65179796-C-T p.Gly694Arg missense DSEL 1 80600 1.24069E-5 40300 0 3.18532E-5
18-65179806-A-G p.Tyr690Tyr synonymous DSEL 3 80518 3.72587E-5 40259 0 1.27348E-4
18-65179817-T-G p.Arg687Arg synonymous DSEL 3 80374 3.73255E-5 40187 0 3.98819E-5
18-65179829-G-A p.Pro683Ser missense DSEL 39886 79988 0.49865 39994 10114 0.53875
18-65179839-A-C p.Phe679Leu missense DSEL 8 80094 9.98826E-5 40047 0 9.55292E-5
18-65179857-T-C p.Gln673Gln synonymous DSEL 2 79900 2.50313E-5 39950 0 NA
18-65179858-T-C p.Gln673Arg missense DSEL 1 79894 1.25166E-5 39947 0 NA
18-65179859-G-T p.Gln673Lys missense DSEL 1 79894 1.25166E-5 39947 0 NA
18-65179880-C-T p.Glu666Lys missense DSEL 2 79890 2.50344E-5 39945 0 NA
18-65179885-G-C p.Ala664Gly missense DSEL 2 79926 2.50231E-5 39963 0 3.9953E-6
18-65179900-T-C p.Gln659Arg missense DSEL 1 80148 1.24769E-5 40074 0 1.19679E-5
18-65179904-T-C p.Ile658Val missense DSEL 1 80212 1.2467E-5 40106 0 NA
18-65179915-G-A p.Pro654Leu missense DSEL 3 80322 3.73497E-5 40161 0 8.27294E-6
18-65179918-C-T p.Ser653Asn missense DSEL 6 80366 7.46584E-5 40183 0 1.59205E-4
18-65179922-T-C p.Asn652Asp missense DSEL 2 80418 2.48701E-5 40209 0 1.99219E-5
18-65179930-T-C p.His649Arg missense DSEL 3 80518 3.72587E-5 40259 0 5.03525E-4
18-65179931-G-T p.His649Asn missense DSEL 2 80532 2.48348E-5 40266 0 1.19498E-5
18-65179939-C-G p.Trp646Ser missense DSEL 1 80574 1.2411E-5 40287 0 NA
18-65179954-T-C p.His641Arg missense DSEL 1 80674 1.23956E-5 40337 0 NA
18-65179956-T-C p.Ala640Ala synonymous DSEL 1 80690 1.23931E-5 40345 0 NA
18-65179972-A-G p.Met635Thr missense DSEL 1 80776 1.23799E-5 40388 0 NA
18-65179987-T-C p.Tyr630Cys missense DSEL 1 80786 1.23784E-5 40393 0 2.48665E-5
18-65180008-GGGATATATTTAA-G p.Phe619_Pro623delinsSer disruptive_inframe_deletion DSEL 1 80854 1.2368E-5 40427 0 NA
18-65180016-T-A p.Lys620Asn missense DSEL 1 80864 1.23664E-5 40432 0 NA
18-65180048-C-A p.Ala610Ser missense DSEL 1 80898 1.23612E-5 40449 0 NA
18-65180050-C-G p.Ser609Thr missense DSEL 1 80892 1.23622E-5 40446 0 3.98572E-6
18-65180054-C-G p.Val608Leu missense DSEL 6 80896 7.41693E-5 40448 0 3.82214E-4
18-65180073-T-C p.Glu601Glu synonymous DSEL 1 80884 1.23634E-5 40442 0 NA
18-65180079-C-G p.Arg599Ser missense DSEL 5 80886 6.18154E-5 40443 0 1.19448E-4
18-65180090-G-C p.His596Asp missense DSEL 1 80906 1.236E-5 40453 0 NA
18-65180118-T-A p.Leu586Phe missense DSEL 1 80930 1.23564E-5 40465 0 NA
18-65180127-C-A p.Leu583Phe missense DSEL 9 80932 1.11204E-4 40466 0 6.36862E-5
18-65180127-C-G p.Leu583Phe missense DSEL 1 80932 1.23561E-5 40466 0 7.95513E-6
18-65180129-A-C p.Leu583Val missense DSEL 11 80934 1.35913E-4 40467 0 5.41505E-4
18-65180134-C-T p.Arg581His missense DSEL 1 80940 1.23548E-5 40470 0 1.64834E-5
18-65180137-T-C p.Tyr580Cys missense DSEL 2 80936 2.47109E-5 40468 0 3.18431E-5
18-65180142-A-C p.Ser578Arg missense DSEL 5 80944 6.17711E-5 40472 0 3.18431E-5
18-65180143-C-T p.Ser578Asn missense DSEL 13 80942 1.60609E-4 40471 0 3.82141E-4
18-65180144-T-C p.Ser578Gly missense DSEL 1 80954 1.23527E-5 40477 0 NA
18-65180146-T-C p.Lys577Arg missense DSEL 2 80954 2.47054E-5 40477 0 5.17051E-5
18-65180152-C-T p.Arg575Lys missense DSEL 69 80948 8.52399E-4 40474 0 0.00503525
18-65180169-A-G p.Ala569Ala synonymous DSEL 1 80972 1.23499E-5 40486 0 3.18492E-5
18-65180177-C-T p.Val567Met missense DSEL 2 80972 2.46999E-5 40486 0 0.00125
18-65180178-G-A p.Ala566Ala synonymous DSEL 2 80972 2.46999E-5 40486 0 3.18532E-5
18-65180188-C-T p.Ser563Asn missense DSEL 1 80978 1.2349E-5 40489 0 6.36902E-5
18-65180196-T-C p.Val560Val synonymous DSEL 1 80976 1.23493E-5 40488 0 NA
18-65180204-C-T p.Glu558Lys missense DSEL 1 80988 1.23475E-5 40494 0 6.37105E-5
18-65180209-T-C p.His556Arg missense DSEL 2 80994 2.46932E-5 40497 0 3.18532E-5
18-65180215-G-A p.Ser554Phe missense DSEL 2 80996 2.46926E-5 40498 0 3.295E-5
18-65180217-G-A p.Ala553Ala synonymous DSEL 277 80992 0.00342009 40496 2 0.00669173
18-65180227-A-G p.Ile550Thr missense DSEL 1 80998 1.2346E-5 40499 0 NA
18-65180231-C-T p.Glu549Lys missense DSEL 1 81000 1.23457E-5 40500 0 NA
18-65180246-C-G p.Gly544Arg missense DSEL 1 81006 1.23448E-5 40503 0 NA
18-65180250-C-G p.Glu542Asp missense DSEL 1 81006 1.23448E-5 40503 0 3.97662E-6
18-65180253-C-G p.Glu541Asp missense DSEL 1 81014 1.23435E-5 40507 0 NA
18-65180256-G-A p.Gly540Gly synonymous DSEL 1 80996 1.23463E-5 40498 0 1.64745E-5
18-65180276-G-A p.Gln534* stop_gained DSEL 1 81008 1.23445E-5 40504 0 3.97703E-6
18-65180277-C-T p.Ala533Ala synonymous DSEL 3 81012 3.70316E-5 40506 0 3.29489E-5
18-65180280-A-G p.Cys532Cys synonymous DSEL 4 81012 4.93754E-5 40506 0 0.00100705
18-65180307-C-T p.Lys523Lys synonymous DSEL 2 81042 2.46786E-5 40521 0 8.23723E-6
18-65180307-C-A p.Lys523Asn missense DSEL 4 81042 4.93571E-5 40521 0 0.00100705
18-65180308-T-C p.Lys523Arg missense DSEL 2 81040 2.46792E-5 40520 0 8.23696E-6
18-65180318-G-A p.Gln520* stop_gained DSEL 3 81050 3.70142E-5 40525 0 1.64742E-5
18-65180328-T-A p.Ser516Ser synonymous DSEL 1 81040 1.23396E-5 40520 0 NA
18-65180334-A-G p.Ala514Ala synonymous DSEL 1 81042 1.23393E-5 40521 0 3.97655E-6
18-65180345-A-G p.Leu511Leu synonymous DSEL 1 81046 1.23387E-5 40523 0 NA
18-65180357-G-A p.Leu507Phe missense DSEL 1 81040 1.23396E-5 40520 0 NA
18-65180370-G-C p.Pro502Pro synonymous DSEL 17 81048 2.09752E-4 40524 0 5.03525E-4
18-65180397-T-C p.Val493Val synonymous DSEL 13 81034 1.60426E-4 40517 0 9.55597E-5
18-65180413-G-T p.Ala488Asp missense DSEL 1 81018 1.23429E-5 40509 0 NA
18-65180454-G-C p.Asn474Lys missense DSEL 1 81004 1.23451E-5 40502 0 3.97722E-6
18-65180469-C-A p.Gly469Gly synonymous DSEL 2 81004 2.46901E-5 40502 0 2.47105E-5
18-65180515-G-A p.Ala454Val missense DSEL 1 80992 1.23469E-5 40496 0 NA
18-65180518-C-T p.Arg453Gln missense DSEL 8 80984 9.87849E-5 40492 0 3.29478E-5
18-65180519-G-A p.Arg453* stop_gained DSEL 2 80994 2.46932E-5 40497 1 NA
18-65180535-A-G p.Ser447Ser synonymous DSEL 1 80996 1.23463E-5 40498 0 NA
18-65180538-T-C p.Lys446Lys synonymous DSEL 1 80988 1.23475E-5 40494 0 NA
18-65180539-T-G p.Lys446Thr missense DSEL 2 80986 2.46956E-5 40493 0 3.9769E-6
18-65180549-C-T p.Val443Met missense DSEL 3 80984 3.70444E-5 40492 0 NA
18-65180570-T-C p.Asn436Asp missense DSEL 7 80978 8.64432E-5 40489 0 5.17026E-5
18-65180577-C-T p.Gly433Gly synonymous DSEL 2 80968 2.47011E-5 40484 0 NA
18-65180587-T-C p.Tyr430Cys missense DSEL 1 80972 1.23499E-5 40486 0 3.18512E-5
18-65180604-G-A p.Asn424Asn synonymous DSEL 1 80946 1.23539E-5 40473 0 7.95684E-6
18-65180610-G-A p.Phe422Phe synonymous DSEL 5 80934 6.17787E-5 40467 0 1.59276E-4
18-65180615-T-A p.Thr421Ser missense DSEL 1 80950 1.23533E-5 40475 0 NA
18-65180623-T-G p.Lys418Thr missense DSEL 2 80940 2.47097E-5 40470 0 NA
18-65180633-C-T p.Gly415Ser missense DSEL 2 80938 2.47103E-5 40469 0 NA
18-65180634-A-G p.Tyr414Tyr synonymous DSEL 2 80942 2.47091E-5 40471 0 1.98904E-5
18-65180637-A-G p.Asp413Asp synonymous DSEL 5 80960 6.17589E-5 40480 0 6.25E-4
18-65180641-G-C p.Ala412Gly missense DSEL 1 80970 1.23503E-5 40485 0 NA
18-65180654-G-A p.Pro408Ser missense DSEL 2 80992 2.46938E-5 40496 0 NA
18-65180671-T-C p.Tyr402Cys missense DSEL 1 81006 1.23448E-5 40503 0 3.97671E-6
18-65180687-T-C p.Thr397Ala missense DSEL 1 81042 1.23393E-5 40521 0 1.64737E-5
18-65180706-T-C p.Gln390Gln synonymous DSEL 1589 81052 0.0196047 40526 71 0.0386184
18-65180714-T-C p.Thr388Ala missense DSEL 6 81066 7.40138E-5 40533 0 6.76014E-5
18-65180723-C-T p.Val385Ile missense DSEL 1 81064 1.23359E-5 40532 0 6.76025E-5
18-65180728-G-A p.Pro383Leu missense DSEL 1 81060 1.23365E-5 40530 0 7.95342E-6
18-65180733-A-G p.Asp381Asp synonymous DSEL 1 81068 1.23353E-5 40534 0 9.55475E-5
18-65180738-T-C p.Lys380Glu missense DSEL 1 81076 1.23341E-5 40538 0 NA
18-65180739-A-G p.Pro379Pro synonymous DSEL 10 81074 1.23344E-4 40537 0 5.03525E-4
18-65180743-C-T p.Arg378Gln missense DSEL 1 81076 1.23341E-5 40538 0 7.95305E-6
18-65180750-T-G p.Lys376Gln missense DSEL 1 81078 1.23338E-5 40539 0 NA
18-65180754-A-G p.Ile374Ile synonymous DSEL 32 81072 3.94711E-4 40536 0 3.04838E-4
18-65180766-T-C p.Leu370Leu synonymous DSEL 3 81062 3.70087E-5 40531 0 3.97728E-6
18-65180785-T-C p.Asn364Ser missense DSEL 1 81042 1.23393E-5 40521 0 NA
18-65180785-T-G p.Asn364Thr missense DSEL 4 81042 4.93571E-5 40521 0 3.2987E-5
18-65180795-T-C p.Ile361Val missense DSEL 1 81030 1.23411E-5 40515 0 7.95836E-6
18-65180795-T-A p.Ile361Phe missense DSEL 1 81030 1.23411E-5 40515 0 1.64957E-5
18-65180799-C-T p.Lys359Lys synonymous DSEL 1 81022 1.23423E-5 40511 0 4.94911E-5
18-65180800-T-C p.Lys359Arg missense DSEL 1 81022 1.23423E-5 40511 0 8.24878E-6
18-65180805-C-T p.Leu357Leu synonymous DSEL 1 81008 1.23445E-5 40504 0 NA
18-65180819-G-A p.Gln353* stop_gained DSEL 1 81000 1.23457E-5 40500 0 NA
18-65180822-T-C p.Ser352Gly missense DSEL 1 81000 1.23457E-5 40500 0 NA
18-65180846-A-G p.Tyr344His missense DSEL 1 80992 1.23469E-5 40496 0 NA
18-65180861-T-C p.Ile339Val missense DSEL 1 80986 1.23478E-5 40493 0 8.25968E-6
18-65180867-C-T p.Val337Met missense DSEL 1 80994 1.23466E-5 40497 0 NA
18-65180893-G-A p.Thr328Ile missense DSEL 1 81000 1.23457E-5 40500 0 NA
18-65180912-A-G p.Phe322Leu missense DSEL 1 81002 1.23454E-5 40501 0 6.25E-4
18-65180919-C-T p.Lys319Lys synonymous DSEL 2 81000 2.46914E-5 40500 0 3.98441E-6
18-65180936-C-A p.Asp314Tyr missense DSEL 3 80986 3.70434E-5 40493 0 6.36902E-5
18-65180937-C-A p.Leu313Phe missense DSEL 1 80992 1.23469E-5 40496 0 2.48127E-5
18-65180944-TTGA-T p.Ile310del disruptive_inframe_deletion DSEL 2 80984 2.46962E-5 40492 0 3.1841E-5
18-65180952-A-C p.Phe308Leu missense DSEL 1 80998 1.2346E-5 40499 0 3.98311E-6
18-65180960-G-A p.Arg306Cys missense DSEL 1 80994 1.23466E-5 40497 0 1.99053E-5
18-65180976-A-C p.Tyr300* stop_gained DSEL 2 81002 2.46907E-5 40501 0 3.1835E-5
18-65180983-G-GT p.Thr298fs frameshift DSEL 1 81004 1.23451E-5 40502 0 NA
18-65180987-C-T p.Val297Ile missense DSEL 78 80998 9.62987E-4 40499 0 0.00105082
18-65180998-G-T p.Thr293Lys missense DSEL 3 81000 3.7037E-5 40500 0 3.18431E-5
18-65181037-T-C p.Asp280Gly missense DSEL 2 81010 2.46883E-5 40505 0 NA
18-65181049-T-C p.Asn276Ser missense DSEL 735 81000 0.00907407 40500 24 0.0192814
18-65181054-T-C p.Leu274Leu synonymous DSEL 1 81002 1.23454E-5 40501 0 6.25E-4
18-65181062-T-C p.Met272Val missense DSEL 1 80988 1.23475E-5 40494 0 3.2962E-5
18-65181074-T-A p.Met268Leu missense DSEL 1 80984 1.23481E-5 40492 0 NA
18-65181086-C-T p.Val264Ile missense DSEL 1 80984 1.23481E-5 40492 0 2.78396E-5
18-65181093-T-C p.Lys261Lys synonymous DSEL 48 80978 5.92754E-4 40489 0 0.00151057
18-65181101-T-C p.Ile259Val missense DSEL 51 80974 6.29832E-4 40487 0 0.00101898
18-65181107-C-T p.Ala257Thr missense DSEL 2 80974 2.46993E-5 40487 0 7.95475E-6
18-65181110-T-G p.Lys256Gln missense DSEL 3 80978 3.70471E-5 40489 0 6.25E-4
18-65181115-C-T p.Gly254Glu missense DSEL 1 80988 1.23475E-5 40494 0 NA
18-65181116-C-T p.Gly254Arg missense DSEL 2 80986 2.46956E-5 40493 0 NA
18-65181126-T-C p.Gly250Gly synonymous DSEL 3 80992 3.70407E-5 40496 0 4.9425E-5
18-65181135-C-T p.Leu247Leu synonymous DSEL 1 80994 1.23466E-5 40497 0 8.23737E-6
18-65181140-C-T p.Ala246Thr missense DSEL 1 80988 1.23475E-5 40494 0 NA
18-65181141-C-T p.Gly245Gly synonymous DSEL 1 80994 1.23466E-5 40497 0 NA
18-65181147-G-T p.Leu243Leu synonymous DSEL 1 80994 1.23466E-5 40497 0 NA
18-65181153-T-C p.Ala241Ala synonymous DSEL 1 80998 1.2346E-5 40499 0 6.36821E-5
18-65181166-G-A p.Thr237Ile missense DSEL 4 80998 4.93839E-5 40499 0 3.18451E-5
18-65181182-G-A p.His232Tyr missense DSEL 1 80986 1.23478E-5 40493 0 NA
18-65181205-C-T p.Arg224His missense DSEL 1 80984 1.23481E-5 40492 0 3.18532E-5
18-65181214-G-A p.Ser221Phe missense DSEL 1 80994 1.23466E-5 40497 0 8.23764E-6
18-65181221-C-T p.Glu219Lys missense DSEL 22 80996 2.71618E-4 40498 0 3.37771E-4
18-65181222-G-A p.Tyr218Tyr synonymous DSEL 24 80998 2.96304E-4 40499 0 1.91131E-4
18-65181245-A-G p.Trp211Arg missense DSEL 1 81002 1.23454E-5 40501 0 3.97725E-6
18-65181248-T-C p.Ile210Val missense DSEL 1 81010 1.23442E-5 40505 0 NA
18-65181260-ATTT-A p.Lys205del conservative_inframe_deletion DSEL 1 81008 1.23445E-5 40504 0 NA
18-65181269-T-G p.Arg203Arg synonymous DSEL 359 81028 0.00443057 40514 0 0.00956697
18-65181274-T-C p.His201Arg missense DSEL 1 81036 1.23402E-5 40518 0 NA
18-65181276-A-G p.Asn200Asn synonymous DSEL 1 81044 1.2339E-5 40522 0 NA
18-65181285-T-G p.Leu197Phe missense DSEL 1 81050 1.23381E-5 40525 0 1.64978E-5
18-65181288-G-A p.Asn196Asn synonymous DSEL 2 81038 2.46798E-5 40519 0 3.9807E-5
18-65181294-T-C p.Leu194Leu synonymous DSEL 1 81044 1.2339E-5 40522 0 1.64976E-5
18-65181299-A-T p.Phe193Ile missense DSEL 1 81058 1.23368E-5 40529 0 8.24974E-6
18-65181318-A-T p.Gly186Gly synonymous DSEL 1 81024 1.2342E-5 40512 0 NA
18-65181338-T-C p.Ile180Val missense DSEL 4 80992 4.93876E-5 40496 0 7.16025E-5
18-65181354-T-C p.Pro174Pro synonymous DSEL 4 80970 4.9401E-5 40485 0 1.98889E-5
18-65181360-A-G p.Asn172Asn synonymous DSEL 1 80974 1.23496E-5 40487 0 1.64905E-5
18-65181393-C-G p.Arg161Ser missense DSEL 1 81006 1.23448E-5 40503 0 NA
18-65181396-G-A p.Asp160Asp synonymous DSEL 14 81018 1.72801E-4 40509 0 6.59098E-5
18-65181398-C-T p.Asp160Asn missense DSEL 1 81018 1.23429E-5 40509 0 3.18309E-5
18-65181423-G-C p.Ala151Ala synonymous DSEL 1 81030 1.23411E-5 40515 0 NA
18-65181427-A-G p.Val150Ala missense DSEL 1 81030 1.23411E-5 40515 0 2.78374E-5
18-65181438-T-C p.Pro146Pro synonymous DSEL 2 81020 2.46853E-5 40510 0 NA
18-65181442-C-G p.Cys145Ser missense DSEL 1 81014 1.23435E-5 40507 0 NA
18-65181470-G-A p.Pro136Ser missense DSEL 1 80998 1.2346E-5 40499 0 NA
18-65181486-A-G p.Ile130Ile synonymous DSEL 2 81012 2.46877E-5 40506 0 NA
18-65181489-T-A p.Glu129Asp missense DSEL 2 81014 2.46871E-5 40507 0 NA
18-65181502-G-A p.Ala125Val missense DSEL 1 80998 1.2346E-5 40499 0 NA
18-65181506-C-T p.Ala124Thr missense DSEL 38 80994 4.69171E-4 40497 0 0.00107088
18-65181517-T-A p.His120Leu missense DSEL 1 80990 1.23472E-5 40495 0 1.59215E-4
18-65181518-G-A p.His120Tyr missense DSEL 1 80994 1.23466E-5 40497 0 1.64747E-5
18-65181524-G-C p.Pro118Ala missense DSEL 9 80984 1.11133E-4 40492 0 6.25E-4
18-65181527-G-A p.Pro117Ser missense DSEL 4 80992 4.93876E-5 40496 0 2.78392E-5
18-65181528-A-T p.Pro116Pro synonymous DSEL 2 80986 2.46956E-5 40493 0 NA
18-65181531-T-C p.Leu115Leu synonymous DSEL 2 80980 2.46975E-5 40490 0 8.2371E-6
18-65181542-T-C p.Thr112Ala missense DSEL 3 80978 3.70471E-5 40489 0 6.36862E-5
18-65181548-T-C p.Asn110Asp missense DSEL 2 80970 2.47005E-5 40485 0 NA
18-65181553-A-G p.Leu108Pro missense DSEL 1 80940 1.23548E-5 40470 0 NA
18-65181556-A-G p.Met107Thr missense DSEL 1 80930 1.23564E-5 40465 0 8.2371E-6
18-65181592-T-C p.His95Arg missense DSEL 1 80746 1.23845E-5 40373 0 NA
18-65181607-C-T p.Arg90His missense DSEL 1 80554 1.2414E-5 40277 0 3.29603E-5
18-65181612-C-T p.Lys88Lys synonymous DSEL 1 80516 1.24199E-5 40258 0 8.24076E-6
18-65181623-T-A p.Met85Leu missense DSEL 8 80502 9.93764E-5 40251 0 3.50341E-4
18-65181633-T-C p.Glu81Glu synonymous DSEL 1 80480 1.24254E-5 40240 0 NA
18-65181635-C-T p.Glu81Lys missense DSEL 4 80482 4.97006E-5 40241 0 3.18451E-5
18-65181637-C-T p.Gly80Glu missense DSEL 2 80500 2.48447E-5 40250 0 NA
18-65181638-C-T p.Gly80Arg missense DSEL 5 80512 6.21025E-5 40256 0 6.36902E-5
18-65181656-T-G p.Ser74Arg missense DSEL 2 80542 2.48318E-5 40271 0 1.19515E-5
18-65181657-T-C p.Pro73Pro synonymous DSEL 1 80548 1.2415E-5 40274 0 6.18292E-4
18-65181667-A-C p.Met70Arg missense DSEL 1 80584 1.24094E-5 40292 0 NA
18-65181668-T-A p.Met70Leu missense DSEL 18 80592 2.23347E-4 40296 0 1.59185E-4
18-65181684-T-A p.Gln64His missense DSEL 3 80662 3.71922E-5 40331 0 5.03525E-4
18-65181687-G-A p.Asn63Asn synonymous DSEL 1 80662 1.23974E-5 40331 0 NA
18-65181688-T-C p.Asn63Ser missense DSEL 2 80678 2.47899E-5 40339 0 8.24429E-6
18-65181690-G-A p.Pro62Pro synonymous DSEL 1 80694 1.23925E-5 40347 0 NA
18-65181691-G-A p.Pro62Leu missense DSEL 1 80692 1.23928E-5 40346 0 8.24552E-6
18-65181705-C-T p.Val57Val synonymous DSEL 2 80772 2.47611E-5 40386 0 7.96343E-6
18-65181707-C-T p.Val57Met missense DSEL 5 80780 6.18965E-5 40390 0 4.12235E-5
18-65181709-T-C p.Lys56Arg missense DSEL 1 80782 1.2379E-5 40391 0 NA
18-65181714-T-C p.Thr54Thr synonymous DSEL 11 80802 1.36135E-4 40401 0 2.54696E-4
18-65181721-A-T p.Phe52Tyr missense DSEL 1 80828 1.2372E-5 40414 0 1.19399E-5
18-65181733-T-C p.Asp48Gly missense DSEL 1 80854 1.2368E-5 40427 0 3.97928E-6
18-65181733-T-A p.Asp48Val missense DSEL 2 80854 2.47359E-5 40427 0 0.00100705
18-65181755-C-G p.Glu41Gln missense DSEL 2 80890 2.47249E-5 40445 0 3.29755E-5
18-65181756-G-A p.Ser40Ser synonymous DSEL 2 80888 2.47255E-5 40444 0 9.55718E-5
18-65181757-G-T p.Ser40Tyr missense DSEL 1 80888 1.23628E-5 40444 0 3.97852E-6
18-65181759-A-G p.Tyr39Tyr synonymous DSEL 1 80888 1.23628E-5 40444 0 NA
18-65181780-A-G p.Phe32Phe synonymous DSEL 1 80890 1.23625E-5 40445 0 NA
18-65181788-A-G p.Ser30Pro missense DSEL 2 80882 2.47274E-5 40441 0 NA
18-65181798-C-T p.Met26Ile missense DSEL 2 80842 2.47396E-5 40421 0 2.78489E-5
18-65181803-A-G p.Leu25Leu synonymous DSEL 11 80818 1.36108E-4 40409 0 2.78496E-5
18-65181813-G-A p.Phe21Phe synonymous DSEL 3 80706 3.7172E-5 40353 0 3.98004E-6
18-65181817-A-G p.Leu20Pro missense DSEL 1 80648 1.23996E-5 40324 0 3.98019E-6
18-65181827-C-T p.Gly17Arg missense DSEL 1 80474 1.24264E-5 40237 0 2.78751E-5
18-65181834-C-T p.Met14Ile missense DSEL 4 80360 4.9776E-5 40180 0 3.50948E-4
18-65181840-C-T p.Ala12Ala synonymous DSEL 7 80220 8.726E-5 40110 0 0.001875
18-65181841-G-A p.Ala12Val missense DSEL 4 80130 4.99189E-5 40065 0 6.25E-4
18-65181846-G-C p.Ile10Met missense DSEL 9 80028 1.12461E-4 40014 0 6.37064E-5
18-65181852-T-TG p.Trp9fs frameshift DSEL 1 79922 1.25122E-5 39961 0 NA
18-65181867-C-A p.Lys3Asn missense DSEL 1 79688 1.25489E-5 39844 0 NA
18-65181874-A-T p.Met1? start_lost DSEL 19 79592 2.38717E-4 39796 0 6.3674E-4
18-65181918-T-C c.-43A>G 5_prime_UTR_premature_start_codon_gain DSEL 1 79332 1.26053E-5 39666 0 1.84267E-5
18-65181944-T-C c.-69A>G 5_prime_UTR_premature_start_codon_gain DSEL 1 78714 1.27042E-5 39357 0 NA
18-65182014-G-A c.-139C>T 5_prime_UTR_premature_start_codon_gain DSEL 3 70634 4.24725E-5 35317 0 NA
18-65182027-G-C c.-152C>G 5_prime_UTR_premature_start_codon_gain DSEL 3 68812 4.3597E-5 34406 0 NA
18-65182055-T-A c.-180A>T 5_prime_UTR_premature_start_codon_gain DSEL 2 63190 3.16506E-5 31595 0 3.1839E-5
18-65182091-G-A c.-216C>T 5_prime_UTR_premature_start_codon_gain DSEL 1 57112 1.75095E-5 28556 0 NA
18-65182147-T-C c.-272A>G 5_prime_UTR_premature_start_codon_gain DSEL 1 48402 2.06603E-5 24201 0 NA
18-65182160-T-G c.-285A>C 5_prime_UTR_premature_start_codon_gain DSEL 1 47618 2.10005E-5 23809 0 NA
18-65182200-G-C c.-325C>G 5_prime_UTR_premature_start_codon_gain DSEL 4 45884 8.71764E-5 22942 0 NA
18-65182224-A-C c.-349T>G 5_prime_UTR_premature_start_codon_gain DSEL 1 45534 2.19616E-5 22767 0 NA
18-65182264-C-T c.-389G>A 5_prime_UTR_premature_start_codon_gain DSEL 1 45456 2.19993E-5 22728 0 NA
18-65182293-C-A c.-418G>T 5_prime_UTR_premature_start_codon_gain DSEL 1 45390 2.20313E-5 22695 0 NA
18-65182304-G-C c.-429C>G 5_prime_UTR_premature_start_codon_gain DSEL 1 45384 2.20342E-5 22692 0 NA
18-65182379-T-G c.-504A>C 5_prime_UTR_premature_start_codon_gain DSEL 1 44926 2.22588E-5 22463 0 9.55475E-5
18-65182469-T-C c.-594A>G 5_prime_UTR_premature_start_codon_gain DSEL 1 45152 2.21474E-5 22576 0 NA
18-65182583-G-A c.-708C>T 5_prime_UTR_premature_start_codon_gain DSEL 1 45494 2.19809E-5 22747 0 NA



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