Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
18-67671026-CAATT-C c.*357_*360delAATT splice_region RTTN 4 3982 0.00100452 1991 0 3.50296E-4
18-67671407-G-A p.Gln2221* stop_gained RTTN 1 80796 1.23769E-5 40398 0 NA
18-67671410-C-T p.Val2220Met missense RTTN 12 80794 1.48526E-4 40397 0 1.59276E-4
18-67671410-C-G p.Val2220Leu missense RTTN 6 80794 7.42629E-5 40397 0 8.42399E-5
18-67671411-G-A c.545-7C>T splice_region RTTN 3 80792 3.71324E-5 40396 0 6.36902E-5
18-67671414-G-A p.Asn2218Asn synonymous RTTN 3 80816 3.71214E-5 40408 0 NA
18-67671415-T-G p.Asn2218Thr missense RTTN 1 80818 1.23735E-5 40409 0 NA
18-67671432-A-G p.Tyr2212Tyr synonymous RTTN 153 80818 0.00189314 40409 0 0.00468153
18-67671439-G-A p.Ala2210Val missense RTTN 3 80818 3.71204E-5 40409 0 1.27389E-4
18-67671441-A-C p.Asn2209Lys missense RTTN 10 80812 1.23744E-4 40406 0 0.00125
18-67671441-A-G p.Asn2209Asn synonymous RTTN 2 80812 2.47488E-5 40406 0 NA
18-67671458-C-T p.Glu2204Lys missense RTTN 3 80770 3.71425E-5 40385 0 NA
18-67671468-GA-AT p.Phe2200Tyr missense RTTN 1 80738 1.23857E-5 40369 0 NA
18-67671479-TA-AT c.6596-8_6596-7delTAinsAT splice_region RTTN 7 80654 8.67905E-5 40327 0 NA
18-67671479-T-C c.6596-7A>G splice_region RTTN 1 80654 1.23986E-5 40327 0 1.20495E-5
18-67672443-C-A p.Ala2196Ser missense RTTN 2 80358 2.48886E-5 40179 0 2.02112E-5
18-67672448-G-A p.Ser2194Phe missense RTTN 2 80434 2.48651E-5 40217 0 4.02742E-6
18-67672462-C-T p.Val2189Val synonymous RTTN 4 80432 4.97315E-5 40216 0 6.37389E-5
18-67672465-T-C p.Arg2188Arg synonymous RTTN 1 80438 1.24319E-5 40219 0 NA
18-67672494-C-G p.Ala2179Pro missense RTTN 3 80300 3.73599E-5 40150 0 7.48366E-5
18-67673610-A-T c.6525+7T>A splice_region RTTN 1 80476 1.24261E-5 40238 0 8.29573E-6
18-67673613-T-G c.6525+4A>C splice_region RTTN 1 80488 1.24242E-5 40244 0 4.01494E-6
18-67673616-CCTT-C p.Lys2175del conservative_inframe_deletion RTTN 1 80486 1.24245E-5 40243 0 NA
18-67673623-A-G p.Tyr2173Tyr synonymous RTTN 1 80484 1.24248E-5 40242 0 NA
18-67673627-T-C p.Asn2172Ser missense RTTN 2 80494 2.48466E-5 40247 0 4.01397E-6
18-67673637-G-A p.Leu2169Leu synonymous RTTN 1 80490 1.24239E-5 40245 0 NA
18-67673639-G-C p.Ala2168Gly missense RTTN 1 80484 1.24248E-5 40242 0 NA
18-67673663-C-T p.Arg2160Lys missense RTTN 1 80492 1.24236E-5 40246 0 3.18471E-5
18-67673671-A-G p.Asn2157Asn synonymous RTTN 1 80460 1.24285E-5 40230 0 8.29834E-6
18-67673681-T-C p.Glu2154Gly missense RTTN 1 80456 1.24292E-5 40228 0 NA
18-67673687-T-C p.Glu2152Gly missense RTTN 1 80404 1.24372E-5 40202 0 NA
18-67673688-C-T p.Glu2152Lys missense RTTN 3 80414 3.73069E-5 40207 0 4.01416E-6
18-67673693-C-A p.Cys2150Phe missense RTTN 1 80382 1.24406E-5 40191 0 8.30993E-6
18-67673694-A-T p.Cys2150Ser missense RTTN 2 80376 2.4883E-5 40188 0 8.83194E-5
18-67673697-C-T p.Ala2149Thr missense RTTN 656 80342 0.00816509 40171 2 0.00722792
18-67673699-G-T p.Ala2148Asp missense RTTN 1 80348 1.24459E-5 40174 0 1.66384E-5
18-67673700-C-A p.Ala2148Ser missense RTTN 1 80342 1.24468E-5 40171 0 4.01542E-6
18-67673709-T-C p.Thr2145Ala missense RTTN 11 80258 1.37058E-4 40129 0 NA
18-67673713-G-A p.Val2143Val synonymous RTTN 1 80198 1.24691E-5 40099 0 8.35911E-6
18-67684636-A-T c.6421+7T>A splice_region RTTN 1 80558 1.24134E-5 40279 0 NA
18-67684647-A-T p.Ala2139Ala synonymous RTTN 11 80540 1.36578E-4 40270 0 1.27364E-4
18-67684647-A-G p.Ala2139Ala synonymous RTTN 18 80544 2.2348E-4 40272 0 0.00117764
18-67684658-TG-T p.Lys2136fs frameshift RTTN 1 80530 1.24177E-5 40265 0 NA
18-67684660-G-A p.Pro2135Leu missense RTTN 1 80512 1.24205E-5 40256 0 8.30537E-6
18-67684669-G-A p.Ala2132Val missense RTTN 2 80504 2.48435E-5 40252 0 4.01655E-6
18-67684677-G-A p.Phe2129Phe synonymous RTTN 1 80508 1.24211E-5 40254 0 6.63416E-5
18-67684695-G-A p.Ile2123Ile synonymous RTTN 2 80544 2.48311E-5 40272 0 1.40922E-4
18-67684705-G-A p.Pro2120Leu missense RTTN 1 80580 1.241E-5 40290 0 2.4084E-5
18-67684710-T-C p.Leu2118Leu synonymous RTTN 1 80600 1.24069E-5 40300 0 NA
18-67684722-C-G p.Lys2114Asn missense RTTN 1 80628 1.24026E-5 40314 0 NA
18-67684741-A-G p.Met2108Thr missense RTTN 1 80698 1.23919E-5 40349 0 NA
18-67684745-C-G p.Glu2107Gln missense RTTN 1 80720 1.23885E-5 40360 0 8.28638E-6
18-67684752-T-A p.Leu2104Phe missense RTTN 1 80734 1.23864E-5 40367 0 3.31433E-5
18-67684760-G-C p.Leu2102Val missense RTTN 2 80736 2.47721E-5 40368 0 NA
18-67684762-C-A p.Cys2101Phe missense RTTN 1 80738 1.23857E-5 40369 0 NA
18-67684763-A-G p.Cys2101Arg missense RTTN 5 80736 6.19302E-5 40368 0 6.36902E-5
18-67684768-T-C p.Asp2099Gly missense RTTN 2 80732 2.47733E-5 40366 0 8.28624E-6
18-67684794-A-G p.Asp2090Asp synonymous RTTN 1 80758 1.23827E-5 40379 0 8.28734E-6
18-67684811-T-C p.Ile2085Val missense RTTN 1 80790 1.23778E-5 40395 0 NA
18-67684816-A-G p.Leu2083Pro missense RTTN 1 80770 1.23808E-5 40385 0 NA
18-67684821-T-C p.Leu2081Leu synonymous RTTN 1 80760 1.23824E-5 40380 0 3.61054E-5
18-67684838-T-C p.Ile2076Val missense RTTN 2 80764 2.47635E-5 40382 0 4.14718E-5
18-67684838-T-A p.Ile2076Phe missense RTTN 5 80764 6.19088E-5 40382 0 1.27348E-4
18-67684842-C-G p.Leu2074Leu synonymous RTTN 6 80756 7.42979E-5 40378 0 9.55292E-5
18-67684854-A-G p.His2070His synonymous RTTN 1 80754 1.23833E-5 40377 0 3.18573E-5
18-67684855-T-A p.His2070Leu missense RTTN 2 80754 2.47666E-5 40377 0 NA
18-67684863-T-C p.Gly2067Gly synonymous RTTN 3 80758 3.7148E-5 40379 0 3.32176E-5
18-67684875-C-A p.Leu2063Phe missense RTTN 42 80738 5.20201E-4 40369 0 6.68875E-4
18-67684883-G-A c.*3425-4C>T splice_region RTTN 3 80736 3.71581E-5 40368 0 8.34376E-6
18-67684885-G-A p.Ser2060Phe missense RTTN 9 80732 1.1148E-4 40366 0 8.34697E-6
18-67684885-G-C p.Ser2060Cys missense RTTN 1 80732 1.23867E-5 40366 0 NA
18-67684893-G-T p.Asn2057Lys missense RTTN 2 80702 2.47825E-5 40351 0 2.51332E-5
18-67684906-T-C p.Asn2053Ser missense RTTN 1 80658 1.2398E-5 40329 0 NA
18-67684912-T-TTCTGAATTACTCCTTTACAGTCATGCGACAA c.6154-3_6154-2insTTGTCGCATGACTGTAAAGGAGTAATTCAGA splice_region RTTN 2 80626 2.48059E-5 40313 1 NA
18-67684916-GATAA-G c.6154-10_6154-7delTTAT splice_region RTTN 1 80592 1.24082E-5 40296 0 1.76426E-5
18-67687846-C-T c.6153+5G>A splice_region RTTN 5 80652 6.19947E-5 40326 0 6.73616E-5
18-67687847-G-A c.6153+4C>T splice_region RTTN 5 80656 6.19917E-5 40328 0 9.55597E-5
18-67687850-C-T c.6153+1G>A splice_donor RTTN 1 80694 1.23925E-5 40347 0 NA
18-67687851-C-T p.Lys2051Lys splice_region+synonymous RTTN 1 80712 1.23897E-5 40356 0 NA
18-67687860-T-C p.Val2048Val synonymous RTTN 16354 80060 0.204272 40030 1744 0.351964
18-67687878-C-T p.Ser2042Ser synonymous RTTN 2 80712 2.47795E-5 40356 0 4.97727E-5
18-67687915-T-C p.Gln2030Arg missense RTTN 4 80562 4.96512E-5 40281 0 8.2872E-6
18-67687924-G-A p.Thr2027Met missense RTTN 13 80496 1.61499E-4 40248 0 2.5481E-4
18-67687937-G-A p.Leu2023Leu synonymous RTTN 2 80412 2.48719E-5 40206 0 NA
18-67687948-G-A p.Ser2019Phe missense RTTN 1 80326 1.24493E-5 40163 0 8.28885E-6
18-67687953-C-T p.Leu2017Leu synonymous RTTN 3 80328 3.73469E-5 40164 0 NA
18-67687956-C-G p.Lys2016Asn missense RTTN 5 80308 6.22603E-5 40154 0 8.28967E-6
18-67687962-G-T p.Ile2014Ile synonymous RTTN 4 80276 4.98281E-5 40138 0 2.81172E-5
18-67687966-C-A p.Cys2013Phe missense RTTN 523 80246 0.00651746 40123 5 0.0135952
18-67687983-G-A p.Ser2007Ser synonymous RTTN 7 80184 8.72992E-5 40092 0 3.48299E-4
18-67687988-C-T p.Val2006Met missense RTTN 22 80166 2.74431E-4 40083 0 8.29325E-5
18-67687989-G-A p.Ala2005Ala synonymous RTTN 637 80142 0.00794839 40071 3 0.0156093
18-67687990-G-A p.Ala2005Val missense RTTN 4 80144 4.99102E-5 40072 0 3.18492E-5
18-67688001-T-C p.Thr2001Thr synonymous RTTN 49 80170 6.11201E-4 40085 0 2.57187E-4
18-67688002-G-A p.Thr2001Ile missense RTTN 1 80154 1.2476E-5 40077 0 NA
18-67688004-A-G p.Ala2000Ala synonymous RTTN 1 80156 1.24757E-5 40078 0 4.01981E-6
18-67688005-G-C p.Ala2000Gly missense RTTN 2 80136 2.49576E-5 40068 0 1.65975E-5
18-67688008-T-C p.Gln1999Arg missense RTTN 1 80158 1.24754E-5 40079 0 NA
18-67688009-G-A p.Gln1999* stop_gained RTTN 1 80148 1.24769E-5 40074 0 3.18532E-5
18-67688013-A-G p.Pro1997Pro synonymous RTTN 135 80148 0.00168438 40074 0 0.00445888
18-67688014-G-C p.Pro1997Arg missense RTTN 3 80136 3.74364E-5 40068 0 7.47272E-5
18-67688026-C-G p.Cys1993Ser missense RTTN 2 80064 2.498E-5 40032 0 6.37024E-5
18-67688033-A-C p.Ser1991Ala missense RTTN 5 80044 6.24656E-5 40022 0 6.36943E-5
18-67688042-G-A p.Leu1988Phe missense RTTN 2 80060 2.49813E-5 40030 0 8.09422E-5
18-67688048-T-C p.Ser1986Gly missense RTTN 1 80036 1.24944E-5 40018 0 8.41383E-6
18-67688048-T-A p.Ser1986Cys missense RTTN 2 80036 2.49888E-5 40018 0 8.41383E-6
18-67691953-A-C c.5950+5T>G splice_region RTTN 1 80336 1.24477E-5 40168 0 1.33607E-4
18-67691954-T-G c.5950+4A>C splice_region RTTN 1 80348 1.24459E-5 40174 0 NA
18-67691954-T-C c.5950+4A>G splice_region RTTN 1 80348 1.24459E-5 40174 0 8.04408E-6
18-67691961-T-C p.Asn1983Asp missense RTTN 2 80442 2.48626E-5 40221 0 0.00151362
18-67691972-G-A p.Ala1979Val missense RTTN 1 80534 1.24171E-5 40267 0 NA
18-67691975-G-C p.Thr1978Ser missense RTTN 1 80554 1.2414E-5 40277 0 NA
18-67691987-A-C p.Leu1974Arg missense RTTN 1 80648 1.23996E-5 40324 0 NA
18-67691988-G-A p.Leu1974Phe missense RTTN 1 80640 1.24008E-5 40320 0 3.1837E-5
18-67691992-C-G p.Gln1972His missense RTTN 39 80658 4.83523E-4 40329 1 2.36855E-4
18-67691999-G-T p.Ser1970Tyr missense RTTN 1 80684 1.2394E-5 40342 0 2.49095E-5
18-67692004-T-C p.Gln1968Gln synonymous RTTN 5 80688 6.19671E-5 40344 0 0.00252525
18-67692007-C-T p.Met1967Ile missense RTTN 1 80670 1.23962E-5 40335 0 3.1839E-5
18-67692012-A-G p.Leu1966Leu synonymous RTTN 6 80676 7.43716E-5 40338 0 3.18329E-5
18-67692025-C-T p.Leu1961Leu synonymous RTTN 96 80714 0.00118938 40357 1 0.00184655
18-67692035-G-C p.Pro1958Arg missense RTTN 1 80698 1.23919E-5 40349 0 NA
18-67692037-C-T p.Trp1957* stop_gained RTTN 1 80700 1.23916E-5 40350 0 4.01326E-6
18-67692046-G-A p.His1954His synonymous RTTN 5 80698 6.19594E-5 40349 0 2.22845E-4
18-67692058-G-A p.Val1950Val synonymous RTTN 13 80682 1.61126E-4 40341 0 9.96562E-5
18-67692078-C-G p.Ala1944Pro missense RTTN 1 80576 1.24106E-5 40288 0 NA
18-67692088-T-C c.5824-4A>G splice_region RTTN 1 80490 1.24239E-5 40245 0 NA
18-67695939-TTGAAAAGTAGTTCTAC-T c.5823+5_5823+20delGTAGAACTACTTTTCA splice_region RTTN 2 79690 2.50973E-5 39845 0 9.55718E-5
18-67695966-T-C p.Glu1939Glu synonymous RTTN 1 80530 1.24177E-5 40265 0 NA
18-67695973-T-C p.Asn1937Ser missense RTTN 7 80554 8.68982E-5 40277 0 8.11655E-6
18-67695991-C-G p.Arg1931Thr missense RTTN 1 80642 1.24005E-5 40321 0 NA
18-67695996-G-C p.Leu1929Leu synonymous RTTN 1 80640 1.24008E-5 40320 0 8.48119E-6
18-67696005-G-A p.Ala1926Ala synonymous RTTN 1 80648 1.23996E-5 40324 0 NA
18-67696007-CAATGCTTAACTCTTT-C p.Lys1921_Ile1925del conservative_inframe_deletion RTTN 5 80650 6.19963E-5 40325 0 1.18769E-4
18-67696016-A-T p.Leu1923Ile missense RTTN 3 80606 3.72181E-5 40303 0 1.20824E-5
18-67696022-T-C p.Lys1921Glu missense RTTN 1 80600 1.24069E-5 40300 0 NA
18-67696024-A-G p.Ile1920Thr missense RTTN 1 80596 1.24076E-5 40298 0 3.1835E-5
18-67696040-A-G c.5746-3T>C splice_region RTTN 13 80424 1.61643E-4 40212 0 8.68161E-5
18-67696041-T-G c.5746-4A>C splice_region RTTN 3 80412 3.73079E-5 40206 0 NA
18-67697242-T-C c.5745+6A>G splice_region RTTN 1 80676 1.23953E-5 40338 0 NA
18-67697303-T-A p.Asn1897Ile missense RTTN 2 80772 2.47611E-5 40386 0 4.14127E-5
18-67697303-T-C p.Asn1897Ser missense RTTN 2 80772 2.47611E-5 40386 0 8.28253E-6
18-67697310-G-C p.His1895Asp missense RTTN 2 80752 2.47672E-5 40376 0 8.28253E-6
18-67697313-T-A p.Lys1894* stop_gained RTTN 1 80748 1.23842E-5 40374 0 NA
18-67697336-A-G p.Ile1886Thr missense RTTN 2 80612 2.48102E-5 40306 0 NA
18-67698104-T-A c.5647+8A>T splice_region RTTN 1 80588 1.24088E-5 40294 0 NA
18-67698121-C-T p.Ala1880Thr missense RTTN 1 80646 1.23999E-5 40323 0 1.61466E-5
18-67698131-T-G p.Ala1876Ala synonymous RTTN 1 80692 1.23928E-5 40346 0 NA
18-67698149-C-T p.Leu1870Leu synonymous RTTN 3 80724 3.71637E-5 40362 0 9.55231E-5
18-67698152-C-A p.Leu1869Leu synonymous RTTN 2 80716 2.47782E-5 40358 0 8.28555E-6
18-67698189-A-G p.Ile1857Thr missense RTTN 1 80650 1.23993E-5 40325 0 0.00251762
18-67698206-C-A p.Gly1851Gly synonymous RTTN 4 80580 4.96401E-5 40290 0 3.18471E-5
18-67698213-T-C p.Tyr1849Cys missense RTTN 2 80536 2.48336E-5 40268 0 NA
18-67698220-G-GAAGGATTA c.5542-4_5542-3insTAATCCTT splice_region RTTN 2 80440 2.48633E-5 40220 1 NA
18-67698220-G-A c.5542-3C>T splice_region RTTN 1 80440 1.24316E-5 40220 0 2.50158E-5
18-67715202-C-T c.5541+5G>A splice_region RTTN 1 80786 1.23784E-5 40393 0 8.33722E-6
18-67715203-G-A c.5541+4C>T splice_region RTTN 1 80788 1.23781E-5 40394 0 1.60717E-5
18-67715210-A-AAC p.Gln1847fs frameshift RTTN 1 80836 1.23707E-5 40418 0 NA
18-67715215-T-C p.Ile1845Val missense RTTN 3 80868 3.70975E-5 40434 0 3.20852E-5
18-67715221-C-G p.Asp1843His missense RTTN 2 80892 2.47243E-5 40446 0 4.97901E-5
18-67715241-T-C p.Lys1836Arg missense RTTN 16 80916 1.97736E-4 40458 0 9.5511E-5
18-67715248-T-C p.Asn1834Asp missense RTTN 24 80910 2.96626E-4 40455 0 6.25E-4
18-67715288-A-G p.Cys1820Cys synonymous RTTN 1 80880 1.2364E-5 40440 0 0.00100705
18-67715291-G-A p.Cys1819Cys synonymous RTTN 2 80882 2.47274E-5 40441 0 5.03525E-4
18-67715292-C-A p.Cys1819Phe missense RTTN 1 80874 1.23649E-5 40437 0 5.03525E-4
18-67715314-C-T p.Ala1812Thr missense RTTN 1 80832 1.23713E-5 40416 0 NA
18-67715323-G-T p.His1809Asn missense RTTN 1 80826 1.23723E-5 40413 0 NA
18-67715332-C-T p.Ala1806Thr missense RTTN 1 80838 1.23704E-5 40419 0 1.604E-5
18-67715338-C-T p.Glu1804Lys missense RTTN 2 80842 2.47396E-5 40421 0 5.80171E-5
18-67715339-G-A p.Thr1803Thr synonymous RTTN 1 80834 1.2371E-5 40417 0 5.03525E-4
18-67715350-C-T p.Val1800Ile missense RTTN 2 80830 2.47433E-5 40415 0 8.28858E-6
18-67715378-C-A p.Leu1790Leu synonymous RTTN 1 80846 1.23692E-5 40423 0 0.00100705
18-67715381-G-C p.Ala1789Ala synonymous RTTN 1 80844 1.23695E-5 40422 0 NA
18-67715390-C-G p.Thr1786Thr synonymous RTTN 4 80800 4.95049E-5 40400 0 6.36821E-5
18-67715390-C-A p.Thr1786Thr synonymous RTTN 1 80800 1.23762E-5 40400 0 3.1841E-5
18-67715390-C-T p.Thr1786Thr synonymous RTTN 1 80800 1.23762E-5 40400 0 3.1841E-5
18-67715391-G-A p.Thr1786Met missense RTTN 3 80810 3.71241E-5 40405 0 1.079E-4
18-67715399-C-G p.Leu1783Phe missense RTTN 4 80786 4.95135E-5 40393 0 1.2474E-4
18-67715414-G-A p.Cys1778Cys synonymous RTTN 3 80716 3.71674E-5 40358 0 7.23583E-5
18-67715418-A-G p.Phe1777Ser missense RTTN 2 80680 2.47893E-5 40340 0 1.20994E-5
18-67715421-A-G p.Met1776Thr missense RTTN 2 80640 2.48016E-5 40320 0 6.74809E-5
18-67715431-G-A c.5324-7C>T splice_region RTTN 1 80510 1.24208E-5 40255 0 NA
18-67718637-ATCT-A c.5323+7_5323+9delAGA splice_region RTTN 2 80812 2.47488E-5 40406 0 3.18431E-5
18-67718639-C-G c.5323+8G>C splice_region RTTN 1 80836 1.23707E-5 40418 0 NA
18-67718641-T-G c.5323+6A>C splice_region RTTN 1 80844 1.23695E-5 40422 0 8.41864E-6
18-67718643-T-C c.5323+4A>G splice_region RTTN 1 80848 1.23689E-5 40424 0 NA
18-67718651-C-G p.Ala1773Ala synonymous RTTN 949 80832 0.0117404 40416 12 0.024375
18-67718651-C-T p.Ala1773Ala synonymous RTTN 4 80856 4.94707E-5 40428 0 3.18471E-5
18-67718652-G-A p.Ala1773Val missense RTTN 10 80870 1.23655E-4 40435 0 3.50318E-4
18-67718654-C-T p.Ala1772Ala synonymous RTTN 3 80904 3.7081E-5 40452 0 5.06073E-4
18-67718655-G-A p.Ala1772Val missense RTTN 9 80904 1.11243E-4 40452 0 1.31296E-4
18-67718656-C-T p.Ala1772Thr missense RTTN 2 80906 2.472E-5 40453 0 6.3678E-5
18-67718666-C-T p.Lys1768Lys synonymous RTTN 3 80924 3.70718E-5 40462 0 2.0139E-5
18-67718673-A-G p.Leu1766Pro missense RTTN 1 80916 1.23585E-5 40458 0 NA
18-67718680-C-T p.Val1764Met missense RTTN 2 80932 2.47121E-5 40466 0 3.18431E-5
18-67718688-A-G p.Phe1761Ser missense RTTN 71417 80870 0.883109 40435 32639 0.94875
18-67718688-AAC-GAT p.ProPhe1760ProSer missense RTTN 7 80940 8.64838E-5 40470 1 NA
18-67718690-C-T p.Pro1760Pro synonymous RTTN 71 80930 8.77301E-4 40465 0 0.0041088
18-67718691-G-A p.Pro1760Leu missense RTTN 4 80928 4.94266E-5 40464 0 3.1841E-5
18-67718699-G-A p.Ile1757Ile synonymous RTTN 1 80936 1.23554E-5 40468 0 NA
18-67718701-T-C p.Ile1757Val missense RTTN 1 80934 1.23557E-5 40467 0 8.02349E-6
18-67718710-C-T p.Ala1754Thr missense RTTN 1 80934 1.23557E-5 40467 0 NA
18-67718711-T-C p.Lys1753Lys synonymous RTTN 3 80934 3.70672E-5 40467 0 3.1841E-5
18-67718713-T-C p.Lys1753Glu missense RTTN 1 80938 1.23551E-5 40469 0 NA
18-67718716-T-C p.Arg1752Gly missense RTTN 1 80944 1.23542E-5 40472 0 1.66223E-5
18-67718724-A-G p.Met1749Thr missense RTTN 1 80926 1.2357E-5 40463 0 NA
18-67718731-G-C p.Leu1747Val missense RTTN 1 80924 1.23573E-5 40462 0 NA
18-67718737-T-G p.Asn1745His missense RTTN 1 80894 1.23619E-5 40447 0 2.50849E-5
18-67718745-T-C p.His1742Arg missense RTTN 199 80876 0.00246056 40438 3 0.00474522
18-67718752-A-G p.Trp1740Arg missense RTTN 1 80874 1.23649E-5 40437 0 NA
18-67718756-G-C p.His1738Gln missense RTTN 1 80838 1.23704E-5 40419 0 2.57277E-5
18-67718758-G-A p.His1738Tyr missense RTTN 64 80810 7.91981E-4 40405 0 0.00207033
18-67718761-A-G p.Tyr1737His missense RTTN 2 80800 2.47525E-5 40400 0 1.22077E-5
18-67718770-A-C p.Ser1734Ala missense RTTN 2 80766 2.47629E-5 40383 0 1.27356E-4
18-67718770-ATAT-A p.Ile1733del conservative_inframe_deletion RTTN 1 80766 1.23814E-5 40383 0 NA
18-67718773-T-C p.Ile1733Val missense RTTN 1 80738 1.23857E-5 40369 0 4.11617E-6
18-67718788-T-C c.5186-4A>G splice_region RTTN 771 80468 0.00958145 40234 22 0.0207975
18-67718788-TA-T c.5186-5delT splice_region RTTN 1 80476 1.24261E-5 40238 0 2.12445E-4
18-67721359-A-T c.5185+8T>A splice_region RTTN 1 80696 1.23922E-5 40348 0 NA
18-67721366-C-T c.5185+1G>A splice_donor RTTN 1 80732 1.23867E-5 40366 0 NA
18-67721378-T-G p.Lys1725Thr missense RTTN 10 80782 1.2379E-4 40391 0 8.03161E-5
18-67721385-A-G p.Cys1723Arg missense RTTN 1 80798 1.23765E-5 40399 0 9.55171E-5
18-67721387-A-G p.Ile1722Thr missense RTTN 1 80810 1.23747E-5 40405 0 NA
18-67721394-G-T p.Leu1720Ile missense RTTN 1 80828 1.2372E-5 40414 0 NA
18-67721406-T-TCAC p.Asn1715_Ile1716insVal conservative_inframe_insertion RTTN 2 80826 2.47445E-5 40413 0 NA
18-67721408-T-TA p.Asn1715fs frameshift RTTN 2 80834 2.47421E-5 40417 0 NA
18-67721408-T-C p.Asn1715Ser missense RTTN 3 80834 3.71131E-5 40417 0 2.00521E-5
18-67721409-T-C p.Asn1715Asp missense RTTN 219 80838 0.00270912 40419 1 0.00235639
18-67721410-G-A p.Thr1714Thr synonymous RTTN 1 80832 1.23713E-5 40416 0 8.29752E-6
18-67721411-G-C p.Thr1714Ser missense RTTN 2 80826 2.47445E-5 40413 0 NA
18-67721413-G-A p.Ile1713Ile synonymous RTTN 11 80836 1.36078E-4 40418 0 2.22973E-4
18-67721425-C-T p.Val1709Val synonymous RTTN 1 80834 1.2371E-5 40417 0 4.97942E-5
18-67721431-C-T p.Glu1707Glu synonymous RTTN 2 80820 2.47464E-5 40410 0 NA
18-67721437-C-A p.Gln1705His missense RTTN 4 80830 4.94866E-5 40415 0 6.37267E-5
18-67721447-A-G p.Leu1702Pro missense RTTN 1 80828 1.2372E-5 40414 0 NA
18-67721453-G-A p.Pro1700Leu missense RTTN 1 80814 1.23741E-5 40407 0 1.66683E-5
18-67721460-C-A p.Val1698Leu missense RTTN 1 80798 1.23765E-5 40399 0 8.35631E-6
18-67721463-A-G p.Leu1697Leu synonymous RTTN 1 80808 1.2375E-5 40404 0 3.18471E-5
18-67721470-T-G p.Ser1694Ser synonymous RTTN 1 80778 1.23796E-5 40389 0 2.52585E-5
18-67721482-C-T p.Arg1690Arg synonymous RTTN 10 80766 1.23814E-4 40383 0 0.001875
18-67721483-C-G p.Arg1690Thr missense RTTN 1 80770 1.23808E-5 40385 0 NA
18-67721492-G-C p.Ser1687Cys missense RTTN 998 80700 0.0123668 40350 14 0.0177737
18-67721497-T-C p.Leu1685Leu synonymous RTTN 1 80716 1.23891E-5 40358 0 5.03525E-4
18-67721502-A-G p.Tyr1684His missense RTTN 1 80700 1.23916E-5 40350 0 NA
18-67721511-G-A p.Leu1681Phe missense RTTN 1 80642 1.24005E-5 40321 0 9.33306E-6
18-67721520-C-T p.Val1678Ile missense+splice_region RTTN 5 80564 6.20625E-5 40282 0 1.23581E-5
18-67725006-G-A p.Ser1668Leu missense RTTN 1 80688 1.23934E-5 40344 0 8.39884E-6
18-67725009-G-A p.Ser1667Leu missense RTTN 2 80704 2.47819E-5 40352 0 3.18593E-5
18-67725014-C-T p.Leu1665Leu synonymous RTTN 10 80712 1.23897E-4 40356 0 0.001875
18-67725017-C-G p.Leu1664Leu synonymous RTTN 156 80704 0.00193299 40352 0 0.00465027
18-67725033-T-A p.Gln1659Leu missense RTTN 1 80650 1.23993E-5 40325 0 4.01513E-6
18-67725040-A-G p.Cys1657Arg missense RTTN 2 80602 2.48133E-5 40301 0 1.68608E-5
18-67725041-T-C p.Thr1656Thr synonymous RTTN 1 80592 1.24082E-5 40296 0 8.43057E-6
18-67725049-T-C p.Ile1654Val missense RTTN 4 80504 4.9687E-5 40252 0 6.37024E-5
18-67725057-G-C p.Ala1651Gly missense RTTN 2 80416 2.48707E-5 40208 0 4.02042E-6
18-67725068-G-A p.Ser1647Ser splice_region+synonymous RTTN 1 80278 1.24567E-5 40139 0 8.89553E-6
18-67725075-C-T c.4941-7G>A splice_region RTTN 3 79982 3.75084E-5 39991 0 3.7312E-5
18-67725076-G-A c.4941-8C>T splice_region RTTN 2 79930 2.50219E-5 39965 0 2.81817E-5
18-67727079-C-T c.4940+7G>A splice_region RTTN 1085 80256 0.0135192 40128 38 0.0289472
18-67727091-GAGA-G p.Leu1645del disruptive_inframe_deletion RTTN 2 80624 2.48065E-5 40312 0 1.74143E-5
18-67727103-G-C p.Leu1641Leu synonymous RTTN 2 80794 2.47543E-5 40397 0 2.84634E-5
18-67727108-G-A p.His1640Tyr missense RTTN 1 80818 1.23735E-5 40409 0 NA
18-67727116-C-T p.Arg1637Gln missense RTTN 2 80860 2.47341E-5 40430 0 9.55962E-5
18-67727123-C-G p.Ala1635Pro missense RTTN 2 80888 2.47255E-5 40444 0 NA
18-67727137-C-G p.Arg1630Thr missense RTTN 365 80920 0.00451063 40460 7 0.0100148
18-67727147-T-C p.Ile1627Val missense RTTN 2 80940 2.47097E-5 40470 0 1.66187E-5
18-67727148-C-T p.Thr1626Thr synonymous RTTN 26 80940 3.21226E-4 40470 0 4.65333E-4
18-67727149-G-A p.Thr1626Met missense RTTN 7 80952 8.6471E-5 40476 0 0.003125
18-67727149-G-T p.Thr1626Lys missense RTTN 1 80952 1.2353E-5 40476 0 NA
18-67727169-G-C p.Ser1619Arg missense RTTN 1 80984 1.23481E-5 40492 0 3.18552E-5
18-67727171-T-C p.Ser1619Gly missense RTTN 3 80996 3.70389E-5 40498 0 4.0093E-6
18-67727176-A-G p.Met1617Thr missense RTTN 516 81002 0.00637021 40501 10 0.0132208
18-67727205-AAC-A p.Val1607fs frameshift RTTN 1 81020 1.23426E-5 40510 0 3.18431E-5
18-67727212-A-G p.Leu1605Pro missense RTTN 1 81024 1.2342E-5 40512 0 NA
18-67727223-G-A p.Pro1601Pro synonymous RTTN 3 81020 3.70279E-5 40510 0 NA
18-67727241-A-C p.Asp1595Glu missense RTTN 2 81006 2.46895E-5 40503 0 NA
18-67727245-T-C p.His1594Arg missense RTTN 1 80998 1.2346E-5 40499 0 6.25E-4
18-67727255-G-A p.Arg1591Trp missense RTTN 2 80964 2.47023E-5 40482 0 9.55353E-5
18-67727258-G-A p.Pro1590Ser missense RTTN 2 80958 2.47042E-5 40479 0 NA
18-67727266-C-A p.Ser1587Ile missense RTTN 1 80920 1.23579E-5 40460 0 NA
18-67727276-G-A p.His1584Tyr missense+splice_region RTTN 2 80792 2.47549E-5 40396 0 NA
18-67727280-T-TTGAGCCACAAACTGGTCATGGGAGGCTTC c.4748-3_4748-2insGAAGCCTCCCATGACCAGTTTGTGGCTCA splice_region RTTN 2 80754 2.47666E-5 40377 1 NA
18-67727282-T-C c.4748-4A>G splice_region RTTN 3 80710 3.71701E-5 40355 0 6.25782E-4
18-67727283-T-C c.4748-5A>G splice_region RTTN 713 80682 0.00883716 40341 14 0.0191732
18-67727285-T-C c.4748-7A>G splice_region RTTN 28 80668 3.47102E-4 40334 0 0.00224975
18-67728631-G-A p.Arg1585* stop_gained RTTN 1 9604 1.04123E-4 4802 0 1.94801E-4
18-67728638-T-G c.4748-2A>C splice_acceptor RTTN 1 9606 1.04102E-4 4803 0 9.31099E-5
18-67733071-C-G p.Ala1581Pro missense RTTN 2 80290 2.49097E-5 40145 0 3.18431E-5
18-67733084-A-T p.His1576Gln missense RTTN 5 80638 6.20055E-5 40319 0 3.1841E-5
18-67733087-G-C p.Ser1575Ser synonymous RTTN 1 80666 1.23968E-5 40333 0 NA
18-67733101-G-A p.Leu1571Leu synonymous RTTN 1 80588 1.24088E-5 40294 0 NA
18-67733104-GTGT-G p.Thr1569del conservative_inframe_deletion RTTN 2 80612 2.48102E-5 40306 0 NA
18-67733105-T-A p.Thr1569Thr synonymous RTTN 4 80614 4.96192E-5 40307 0 1.27421E-4
18-67733114-C-T p.Gln1566Gln synonymous RTTN 5 80654 6.19932E-5 40327 0 5.03525E-4
18-67733123-T-A p.Pro1563Pro synonymous RTTN 2 80632 2.4804E-5 40316 0 1.22296E-5
18-67733141-C-T p.Gly1557Gly synonymous RTTN 2 80622 2.48071E-5 40311 0 8.30717E-6
18-67733152-G-T p.Pro1554Thr missense RTTN 2 80444 2.4862E-5 40222 0 6.37024E-5
18-67741143-G-T p.Thr1551Lys missense+splice_region RTTN 2 80604 2.48127E-5 40302 0 7.48117E-5
18-67741143-G-A p.Thr1551Met missense+splice_region RTTN 1 80604 1.24063E-5 40302 0 6.25E-4
18-67741151-T-C p.Ser1548Ser synonymous RTTN 9 80656 1.11585E-4 40328 0 1.00444E-4
18-67741168-T-C p.Ser1543Gly missense RTTN 4 80702 4.95651E-5 40351 0 4.01336E-6
18-67741174-C-G p.Asp1541His missense RTTN 1 80706 1.23907E-5 40353 0 3.18979E-5
18-67741180-C-T p.Asp1539Asn missense RTTN 43 80702 5.32824E-4 40351 0 7.33512E-4
18-67741207-A-G p.Trp1530Arg missense RTTN 1 80742 1.23851E-5 40371 0 8.33597E-6
18-67741227-A-G p.Leu1523Ser missense RTTN 1 80650 1.23993E-5 40325 0 NA
18-67741233-GCAA-G c.4565-6_4565-4delTTG splice_region RTTN 47 80580 5.83271E-4 40290 0 4.78347E-4
18-67742580-G-A c.4564+8C>T splice_region RTTN 1 77986 1.28228E-5 38993 0 2.12199E-4
18-67742590-T-G p.Asn1521Thr missense+splice_region RTTN 1 78626 1.27184E-5 39313 0 4.54798E-6
18-67742599-T-C p.Asn1518Ser missense RTTN 1 78930 1.26695E-5 39465 0 1.67918E-5
18-67742601-G-T p.Ser1517Arg missense RTTN 1 78998 1.26585E-5 39499 0 2.26531E-5
18-67742626-G-C p.Ser1509Cys missense RTTN 1 79818 1.25285E-5 39909 0 NA
18-67742639-C-G p.Asp1505His missense RTTN 1 80130 1.24797E-5 40065 0 NA
18-67742643-C-T p.Met1503Ile missense RTTN 1 80216 1.24663E-5 40108 0 0.0025
18-67742645-T-C p.Met1503Val missense RTTN 3 80252 3.73822E-5 40126 0 8.37521E-6
18-67742647-C-T p.Cys1502Tyr missense RTTN 1 80280 1.24564E-5 40140 0 8.31587E-6
18-67742650-C-T p.Arg1501Gln missense RTTN 18 80310 2.24131E-4 40155 0 1.27478E-4
18-67742651-G-A p.Arg1501Trp missense RTTN 7 80346 8.71232E-5 40173 0 1.27494E-4
18-67742652-T-A p.Gly1500Gly synonymous RTTN 1 80388 1.24397E-5 40194 0 NA
18-67742655-T-A p.Leu1499Leu synonymous RTTN 1 80416 1.24353E-5 40208 0 NA
18-67742665-T-C p.His1496Arg missense RTTN 1 80482 1.24251E-5 40241 0 3.18552E-5
18-67742676-C-T p.Gln1492Gln synonymous RTTN 1 80512 1.24205E-5 40256 0 NA
18-67742677-T-C p.Gln1492Arg missense RTTN 2 80512 2.4841E-5 40256 0 NA
18-67742684-A-T p.Leu1490Met missense RTTN 2 80564 2.4825E-5 40282 0 1.66176E-5
18-67742698-T-C p.His1485Arg missense RTTN 8 80614 9.92383E-5 40307 0 4.48482E-5
18-67742707-T-TA p.Tyr1482fs frameshift RTTN 1 80664 1.23971E-5 40332 0 8.31366E-6
18-67742728-G-C p.Pro1475Arg missense RTTN 1 80654 1.23986E-5 40327 0 NA
18-67742742-C-T p.Ser1470Ser synonymous RTTN 1 80600 1.24069E-5 40300 0 6.37511E-5
18-67742743-G-A p.Ser1470Leu missense RTTN 1 80616 1.24045E-5 40308 0 1.66914E-5
18-67742751-A-G p.Ser1467Ser synonymous RTTN 2 80592 2.48164E-5 40296 0 2.50685E-5
18-67742755-T-G p.Asp1466Ala missense RTTN 1 80574 1.2411E-5 40287 0 3.19122E-5
18-67742774-G-A p.Pro1460Ser missense RTTN 1 80424 1.24341E-5 40212 0 NA
18-67742781-T-C c.4375-4A>G splice_region RTTN 2 80274 2.49147E-5 40137 0 1.68166E-5
18-67753849-C-T p.Gln1458Gln splice_region+synonymous RTTN 2 80428 2.4867E-5 40214 0 4.24556E-6
18-67753863-C-A p.Asp1454Tyr missense RTTN 14 80470 1.73978E-4 40235 0 2.619E-4
18-67753886-G-C p.Pro1446Arg missense RTTN 2 80214 2.49333E-5 40107 0 NA
18-67753915-T-C p.Ala1436Ala synonymous RTTN 11 79294 1.38724E-4 39647 0 0.00115035
18-67753917-C-A p.Ala1436Ser missense RTTN 3 79074 3.79391E-5 39537 0 1.08528E-5
18-67753918-C-T p.Ala1435Ala splice_region+synonymous RTTN 1 78716 1.27039E-5 39358 0 NA
18-67753919-G-A p.Ala1435Val missense+splice_region RTTN 1 78248 1.27799E-5 39124 0 6.19963E-5
18-67753928-T-C c.4303-8A>G splice_region RTTN 6 76070 7.88747E-5 38035 0 0.00229885
18-67753928-T-G c.4303-8A>C splice_region RTTN 1 76070 1.31458E-5 38035 0 2.22886E-5
18-67755229-C-T p.Arg1433Gln missense RTTN 24 80914 2.96611E-4 40457 0 0.00100806
18-67755238-A-G p.Met1430Thr missense RTTN 3 80944 3.70627E-5 40472 0 1.91192E-4
18-67755252-C-G p.Gln1425His missense RTTN 8 80960 9.88142E-5 40480 0 1.59286E-4
18-67755261-A-G p.Leu1422Leu synonymous RTTN 5 80960 6.17589E-5 40480 0 2.48975E-5
18-67755266-T-G p.Ile1421Leu missense RTTN 2 80968 2.47011E-5 40484 0 1.20383E-5
18-67755274-A-G p.Val1418Ala missense RTTN 8 80968 9.88045E-5 40484 0 0.00251762
18-67755280-C-G p.Gly1416Ala missense RTTN 1 80976 1.23493E-5 40488 0 NA
18-67755288-C-T p.Gly1413Gly synonymous RTTN 1 80962 1.23515E-5 40481 0 3.18451E-5
18-67755291-A-G p.Gly1412Gly synonymous RTTN 1 80962 1.23515E-5 40481 0 NA
18-67755293-C-T p.Gly1412Ser missense RTTN 3 80970 3.70508E-5 40485 0 6.36821E-5
18-67755294-G-A p.Ser1411Ser synonymous RTTN 2 80958 2.47042E-5 40479 0 3.61066E-5
18-67755302-T-G p.Asn1409His missense RTTN 1 80960 1.23518E-5 40480 0 3.18512E-5
18-67755321-G-A p.Ala1402Ala synonymous RTTN 1 80970 1.23503E-5 40485 0 8.29848E-6
18-67755334-G-A p.Thr1398Met missense RTTN 186 80962 0.00229737 40481 1 0.00190079
18-67755337-T-G p.Glu1397Ala missense RTTN 5 80974 6.17482E-5 40487 0 4.15062E-5
18-67755339-A-C p.Leu1396Leu synonymous RTTN 1 80962 1.23515E-5 40481 0 NA
18-67755340-AG-A p.Glu1397fs frameshift RTTN 1 80962 1.23515E-5 40481 0 8.30151E-6
18-67755351-T-C p.Ala1392Ala synonymous RTTN 1 80950 1.23533E-5 40475 0 NA
18-67755368-G-T p.Leu1387Met missense RTTN 1 80874 1.23649E-5 40437 0 NA
18-67755369-T-C p.Ser1386Ser synonymous RTTN 3 80870 3.70966E-5 40435 0 3.18512E-5
18-67759336-TCA-T c.4143+8_4143+9delTG splice_region RTTN 1 80826 1.23723E-5 40413 0 NA
18-67759340-A-C c.4143+6T>G splice_region RTTN 2 80876 2.47292E-5 40438 0 6.40492E-5
18-67759341-C-G c.4143+5G>C splice_region RTTN 1 80882 1.23637E-5 40441 0 4.02324E-6
18-67759355-C-T p.Arg1378Arg synonymous RTTN 1 80946 1.23539E-5 40473 0 3.32657E-5
18-67759356-C-T p.Arg1378Gln missense RTTN 1 80952 1.2353E-5 40476 0 8.02826E-6
18-67759357-G-T p.Arg1378Arg synonymous RTTN 1 80952 1.2353E-5 40476 0 8.3149E-6
18-67759357-G-A p.Arg1378Trp missense RTTN 1 80952 1.2353E-5 40476 0 3.61219E-5
18-67759359-T-C p.Asp1377Gly missense RTTN 1 80952 1.2353E-5 40476 0 3.18878E-5
18-67759372-G-C p.Pro1373Ala missense RTTN 3 80980 3.70462E-5 40490 0 1.66132E-5
18-67759388-T-C p.Gly1367Gly synonymous RTTN 1 80984 1.23481E-5 40492 0 8.30537E-6
18-67759402-G-C p.Pro1363Ala missense RTTN 1 80958 1.23521E-5 40479 0 NA
18-67759427-C-T p.Leu1354Leu synonymous RTTN 4 80854 4.94719E-5 40427 0 NA
18-67759432-G-T p.Pro1353Thr missense RTTN 2 80834 2.47421E-5 40417 0 NA
18-67759438-A-C p.Phe1351Val missense RTTN 1 80796 1.23769E-5 40398 0 NA
18-67759448-C-T p.Met1347Ile missense RTTN 1 80698 1.23919E-5 40349 0 1.66934E-5
18-67759464-G-T c.4033-8C>A splice_region RTTN 3 80410 3.73088E-5 40205 0 6.25E-4
18-67759904-G-A c.4032+8C>T splice_region RTTN 4 80932 4.94242E-5 40466 0 1.27372E-4
18-67759905-C-T c.4032+7G>A splice_region RTTN 4 80922 4.94303E-5 40461 0 1.41203E-4
18-67759906-G-A c.4032+6C>T splice_region RTTN 86 80914 0.00106286 40457 0 0.003125
18-67759915-G-A p.Ser1343Ser synonymous RTTN 1 80954 1.23527E-5 40477 0 3.18431E-5
18-67759920-C-T p.Gly1342Arg missense RTTN 1 80968 1.23506E-5 40484 0 NA
18-67759930-C-T p.Met1338Ile missense RTTN 2 81006 2.46895E-5 40503 0 8.29064E-6
18-67759953-G-A p.Leu1331Phe missense RTTN 1 81034 1.23405E-5 40517 0 4.14401E-5
18-67759963-A-C p.Ile1327Met missense RTTN 2 81030 2.46822E-5 40515 0 NA
18-67759967-G-T p.Thr1326Lys missense RTTN 1 81034 1.23405E-5 40517 0 NA
18-67759969-G-A p.Ser1325Ser synonymous RTTN 2 81030 2.46822E-5 40515 0 1.2027E-5
18-67759982-C-T p.Gly1321Asp missense RTTN 1 81032 1.23408E-5 40516 0 3.31538E-5
18-67759997-GACAT-G p.Met1315fs frameshift RTTN 5 81012 6.17192E-5 40506 0 4.00982E-6
18-67760007-T-G p.Asn1313His missense RTTN 1 80978 1.2349E-5 40489 0 NA
18-67760015-C-T p.Arg1310His missense RTTN 11 80926 1.35927E-4 40463 0 1.59246E-4
18-67760017-C-T p.Glu1309Glu synonymous RTTN 1 80944 1.23542E-5 40472 0 1.32745E-4
18-67776727-T-C c.3903+7A>G splice_region RTTN 1 80964 1.23512E-5 40482 0 8.29421E-5
18-67776728-A-T c.3903+6T>A splice_region RTTN 1 80964 1.23512E-5 40482 0 NA
18-67776730-T-G c.3903+4A>C splice_region RTTN 3 80978 3.70471E-5 40489 0 8.01706E-6
18-67776765-A-G p.Ile1291Thr missense RTTN 3 81028 3.70242E-5 40514 0 1.65653E-5
18-67776766-T-A p.Ile1291Phe missense RTTN 1 81024 1.2342E-5 40512 0 3.31307E-5
18-67776782-G-C p.Leu1285Leu synonymous RTTN 1 81052 1.23378E-5 40526 0 NA
18-67776787-G-A p.Pro1284Ser missense RTTN 10 81054 1.23375E-4 40527 0 3.18593E-5
18-67776787-G-T p.Pro1284Thr missense RTTN 4 81054 4.93498E-5 40527 0 0.00100705
18-67776787-G-GA p.Pro1284fs frameshift RTTN 1 81054 1.23375E-5 40527 0 1.20209E-5
18-67776792-T-C p.His1282Arg missense RTTN 1 81046 1.23387E-5 40523 0 8.28267E-6
18-67776796-A-G p.Ser1281Pro missense RTTN 1 81042 1.23393E-5 40521 0 NA
18-67776806-C-T p.Pro1277Pro synonymous RTTN 15 81038 1.85098E-4 40519 0 1.91107E-4
18-67776807-G-A p.Pro1277Leu missense RTTN 2 81036 2.46804E-5 40518 0 3.18634E-5
18-67776812-C-T p.Ala1275Ala synonymous RTTN 2 81036 2.46804E-5 40518 0 3.20572E-5
18-67776813-G-A p.Ala1275Val missense RTTN 1 81034 1.23405E-5 40517 0 4.14209E-5
18-67776827-C-T p.Met1270Ile missense RTTN 2 81032 2.46816E-5 40516 0 3.20564E-5
18-67776843-C-T p.Arg1265Gln missense RTTN 1 81018 1.23429E-5 40509 0 4.97315E-5
18-67776844-G-A p.Arg1265Trp missense RTTN 4 81018 4.93717E-5 40509 0 3.31549E-5
18-67776854-C-T p.Pro1261Pro synonymous RTTN 15 81002 1.85181E-4 40501 0 1.91253E-4
18-67776866-G-A p.Phe1257Phe synonymous RTTN 1 80998 1.2346E-5 40499 0 4.00737E-6
18-67776873-G-A p.Pro1255Leu missense RTTN 7 80998 8.64219E-5 40499 0 0.00125
18-67776874-G-A p.Pro1255Ser missense RTTN 5 80992 6.17345E-5 40496 0 NA
18-67776875-C-T p.Ala1254Ala synonymous RTTN 198 80980 0.00244505 40490 1 0.00474825
18-67776876-G-A p.Ala1254Val missense RTTN 18 80986 2.22261E-4 40493 0 5.03525E-4
18-67776881-C-T p.Thr1252Thr synonymous RTTN 5 80990 6.1736E-5 40495 0 6.01178E-5
18-67776902-C-G p.Leu1245Leu synonymous RTTN 1 80986 1.23478E-5 40493 0 NA
18-67776904-G-C p.Leu1245Val missense RTTN 1 80984 1.23481E-5 40492 0 8.30358E-6
18-67776923-T-C p.Gln1238Gln synonymous RTTN 1 80954 1.23527E-5 40477 0 1.20253E-5
18-67776931-C-T p.Val1236Ile missense RTTN 2 80932 2.47121E-5 40466 0 2.00455E-5
18-67776932-G-T p.Tyr1235* stop_gained RTTN 2 80926 2.47139E-5 40463 0 1.67193E-5
18-67776933-T-C p.Tyr1235Cys missense RTTN 1 80934 1.23557E-5 40467 0 1.60373E-5
18-67776936-A-G p.Leu1234Pro missense RTTN 1 80920 1.23579E-5 40460 0 8.02015E-6
18-67776944-C-T p.Ser1231Ser synonymous RTTN 1 80880 1.2364E-5 40440 0 3.18756E-5
18-67776945-G-A p.Ser1231Leu missense RTTN 2 80874 2.47298E-5 40437 0 2.53284E-5
18-67781680-C-T c.3683+1G>A splice_donor RTTN 1 80770 1.23808E-5 40385 0 6.37146E-5
18-67781682-T-G p.Arg1228Arg splice_region+synonymous RTTN 1 80784 1.23787E-5 40392 0 NA
18-67781686-A-G p.Thr1226Thr synonymous RTTN 1 80792 1.23775E-5 40396 0 NA
18-67781691-C-T p.Val1225Ile missense RTTN 1 80804 1.23756E-5 40402 0 8.04887E-6
18-67781696-A-G p.Met1223Thr missense RTTN 1 80800 1.23762E-5 40400 0 1.66055E-5
18-67781699-A-G p.Phe1222Ser missense RTTN 1 80812 1.23744E-5 40406 0 3.18512E-5
18-67781701-A-C p.Asn1221Lys missense RTTN 1 80830 1.23716E-5 40415 0 3.25636E-4
18-67781702-T-C p.Asn1221Ser missense RTTN 4 80832 4.94854E-5 40416 0 5.22655E-5
18-67781705-A-G p.Leu1220Pro missense RTTN 3 80838 3.71113E-5 40419 0 3.18492E-5
18-67781711-A-T p.Leu1218* stop_gained RTTN 1 80846 1.23692E-5 40423 0 NA
18-67781724-G-C p.Leu1214Val missense RTTN 1 80834 1.2371E-5 40417 0 NA
18-67781731-C-G p.Leu1211Leu synonymous RTTN 1 80838 1.23704E-5 40419 0 NA
18-67781768-A-G p.Ile1199Thr missense RTTN 1 80832 1.23713E-5 40416 0 1.65708E-5
18-67781769-T-A p.Ile1199Phe missense RTTN 1 80834 1.2371E-5 40417 0 NA
18-67781771-T-C p.Asp1198Gly missense RTTN 2 80830 2.47433E-5 40415 0 7.45687E-5
18-67781773-A-C p.Asp1197Glu missense RTTN 2 80836 2.47415E-5 40418 0 NA
18-67781773-ATC-A p.Asp1197fs frameshift RTTN 1 80836 1.23707E-5 40418 0 4.01104E-6
18-67781783-T-C p.Glu1194Gly missense RTTN 191 80826 0.0023631 40413 0 0.00654582
18-67781786-C-T p.Arg1193Gln missense RTTN 2 80818 2.4747E-5 40409 0 NA
18-67781805-G-C p.Leu1187Val missense RTTN 1 80748 1.23842E-5 40374 0 3.31559E-5
18-67781807-A-C p.Val1186Gly missense RTTN 2 80744 2.47696E-5 40372 0 4.01632E-6
18-67781821-C-G p.Leu1181Leu synonymous RTTN 1 80692 1.23928E-5 40346 0 3.32182E-5
18-67781835-TCTAAAAA-T c.3529-7_3529-1delTTTTTAG splice_acceptor RTTN 1 80564 1.24125E-5 40282 0 NA
18-67781836-CT-C c.3529-2delA splice_acceptor RTTN 1 80560 1.24131E-5 40280 0 NA
18-67788797-T-C p.Arg1175Gly missense RTTN 1 76226 1.31189E-5 38113 0 4.82211E-6
18-67788809-C-T p.Glu1171Lys missense RTTN 7 76404 9.16182E-5 38202 0 0.00164745
18-67788810-G-A p.Leu1170Leu synonymous RTTN 11 76398 1.43983E-4 38199 1 1.16017E-4
18-67788826-A-T p.Leu1165His missense RTTN 1 76664 1.30439E-5 38332 0 NA
18-67788858-T-C p.Ile1154Met missense RTTN 1 77014 1.29847E-5 38507 0 NA
18-67788860-T-C p.Ile1154Val missense RTTN 1 77046 1.29793E-5 38523 0 NA
18-67788864-T-C p.Lys1152Lys synonymous RTTN 3 77124 3.88984E-5 38562 0 3.18593E-5
18-67788883-A-G p.Ile1146Thr missense RTTN 1 77516 1.29006E-5 38758 0 NA
18-67788890-T-C p.Ile1144Val missense RTTN 2 77632 2.57626E-5 38816 0 9.55049E-5
18-67788911-T-C p.Thr1137Ala missense RTTN 2 77726 2.57314E-5 38863 0 5.00334E-5
18-67788923-G-T p.Leu1133Ile missense RTTN 1 77728 1.28654E-5 38864 0 NA
18-67788924-C-T p.Val1132Val synonymous RTTN 1 77720 1.28667E-5 38860 0 NA
18-67788926-C-T p.Val1132Met missense RTTN 1 77712 1.2868E-5 38856 0 3.18552E-5
18-67788930-T-C p.Leu1130Leu synonymous RTTN 2 77704 2.57387E-5 38852 0 4.92344E-5
18-67788936-CCT-C c.3384-2_3384-1delAG splice_acceptor RTTN 1 77660 1.28766E-5 38830 0 NA
18-67794740-G-C p.Asn1127Lys missense+splice_region RTTN 2 80600 2.48139E-5 40300 0 4.02677E-6
18-67794743-T-C p.Leu1126Leu synonymous RTTN 3 80606 3.72181E-5 40303 0 2.50342E-5
18-67794748-C-T p.Ala1125Thr missense RTTN 8 80604 9.92507E-5 40302 0 1.16727E-4
18-67794748-C-A p.Ala1125Ser missense RTTN 1 80606 1.2406E-5 40303 0 5.03525E-4
18-67794749-G-A p.Thr1124Thr synonymous RTTN 3 80620 3.72116E-5 40310 0 3.18695E-5
18-67794783-C-T p.Cys1113Tyr missense RTTN 229 80700 0.00283767 40350 0 0.00197515
18-67794783-C-G p.Cys1113Ser missense RTTN 2 80702 2.47825E-5 40351 0 NA
18-67794789-C-G p.Gly1111Ala missense RTTN 6 80698 7.43513E-5 40349 0 0.00125
18-67794800-C-G p.Lys1107Asn missense RTTN 36 80708 4.46052E-4 40354 0 3.74052E-4
18-67794800-C-T p.Lys1107Lys synonymous RTTN 20 80712 2.47795E-4 40356 0 5.73431E-4
18-67794801-T-C p.Lys1107Arg missense RTTN 1 80702 1.23913E-5 40351 0 NA
18-67794805-A-G p.Leu1106Leu synonymous RTTN 1 80708 1.23903E-5 40354 0 9.56206E-5
18-67794812-T-C p.Arg1103Arg synonymous RTTN 1 80694 1.23925E-5 40347 0 4.01694E-6
18-67794839-C-T p.Arg1094Arg synonymous RTTN 4 80702 4.95651E-5 40351 0 1.91144E-4
18-67794847-C-T p.Val1092Ile missense RTTN 3 80724 3.71637E-5 40362 0 3.18695E-5
18-67794848-A-G p.Ala1091Ala synonymous RTTN 1 80722 1.23882E-5 40361 0 8.03226E-6
18-67794864-C-T p.Arg1086Lys missense RTTN 1 80716 1.23891E-5 40358 0 NA
18-67794864-C-G p.Arg1086Thr missense RTTN 1 80716 1.23891E-5 40358 0 9.55657E-5
18-67794866-G-A p.His1085His synonymous RTTN 1 80732 1.23867E-5 40366 0 3.18654E-5
18-67794871-T-C p.Thr1084Ala missense RTTN 3 80718 3.71664E-5 40359 0 8.31712E-6
18-67794872-T-C p.Ala1083Ala synonymous RTTN 2 80722 2.47764E-5 40361 0 2.40993E-5
18-67794879-TGAA-T p.Val1080_Gln1081delinsGlu disruptive_inframe_deletion RTTN 2 80728 2.47746E-5 40364 0 NA
18-67794883-C-T p.Val1080Ile missense RTTN 14 80718 1.73443E-4 40359 0 1.59337E-4
18-67794883-CA-C p.Ile1079fs frameshift RTTN 2 80718 2.47776E-5 40359 0 NA
18-67794885-A-C p.Ile1079Ser missense RTTN 2 80718 2.47776E-5 40359 0 NA
18-67794886-T-C p.Ile1079Val missense RTTN 2 80710 2.47801E-5 40355 0 3.18674E-5
18-67794888-G-T p.Ser1078Tyr missense RTTN 1 80694 1.23925E-5 40347 0 NA
18-67794893-G-A p.Leu1076Leu synonymous RTTN 7 80662 8.67819E-5 40331 0 1.60693E-4
18-67794905-C-A p.Leu1072Leu synonymous RTTN 1 80596 1.24076E-5 40298 0 NA
18-67794913-T-C p.Ser1070Gly missense RTTN 3 80568 3.72356E-5 40284 0 5.03525E-4
18-67794945-T-C p.Asp1059Gly missense RTTN 1 80098 1.24847E-5 40049 0 8.49589E-6
18-67794951-G-A p.Thr1057Ile missense RTTN 4 80020 4.99875E-5 40010 0 NA
18-67794955-A-G p.Ser1056Pro missense RTTN 2 79880 2.50376E-5 39940 0 4.03662E-6
18-67794959-CT-C p.Lys1054fs frameshift RTTN 1 79764 1.2537E-5 39882 0 8.70671E-6
18-67794964-A-G p.Leu1053Leu synonymous RTTN 3 79620 3.7679E-5 39810 0 NA
18-67794967-C-T p.Ala1052Thr missense RTTN 1 79526 1.25745E-5 39763 0 NA
18-67794975-A-C p.Ile1049Ser missense+splice_region RTTN 1 79184 1.26288E-5 39592 0 NA
18-67795593-C-T c.3143+1G>A splice_donor RTTN 1 80198 1.24691E-5 40099 0 NA
18-67795600-G-A p.Thr1046Met missense RTTN 9 80276 1.12113E-4 40138 0 9.56145E-5
18-67795606-GT-G p.Thr1044fs frameshift RTTN 2 80310 2.49035E-5 40155 0 8.34348E-6
18-67795644-A-T p.His1031Gln missense RTTN 1 80370 1.24425E-5 40185 0 NA
18-67795645-T-G p.His1031Pro missense RTTN 6 80380 7.46454E-5 40190 0 1.27429E-4
18-67795653-T-C p.Ser1028Ser synonymous RTTN 8 80386 9.95198E-5 40193 0 3.21461E-5
18-67795678-A-G p.Met1020Thr missense RTTN 1 80388 1.24397E-5 40194 0 NA
18-67795689-C-T p.Pro1016Pro synonymous RTTN 223 80342 0.00277563 40171 2 0.0040282
18-67795690-G-A p.Pro1016Leu missense RTTN 1 80344 1.24465E-5 40172 0 5.03525E-4
18-67795692-C-T p.Lys1015Lys synonymous RTTN 1 80354 1.24449E-5 40177 0 3.18593E-5
18-67795698-G-A p.Ala1013Ala synonymous RTTN 2 80348 2.48917E-5 40174 0 8.31421E-6
18-67795699-G-A p.Ala1013Val missense RTTN 1 80336 1.24477E-5 40168 0 NA
18-67795710-A-G p.Ala1009Ala synonymous RTTN 1 80386 1.244E-5 40193 0 5.03525E-4
18-67795712-C-T p.Ala1009Thr missense RTTN 1 80400 1.24378E-5 40200 0 NA
18-67795717-A-G p.Leu1007Ser missense RTTN 1 80418 1.2435E-5 40209 0 9.55475E-5
18-67795719-G-A p.Pro1006Pro synonymous RTTN 2 80422 2.48688E-5 40211 0 6.37186E-5
18-67795728-T-TTTAAATGAAAA p.Val1004fs frameshift RTTN 1 80414 1.24356E-5 40207 0 NA
18-67795732-G-C p.Ser1002Cys missense RTTN 2 80416 2.48707E-5 40208 0 4.02175E-6
18-67795734-G-A p.Tyr1001Tyr synonymous RTTN 43 80400 5.34826E-4 40200 0 0.00172007
18-67795739-G-T p.Pro1000Thr missense RTTN 1 80404 1.24372E-5 40202 0 NA
18-67795747-G-A p.Ala997Val missense RTTN 98 80398 0.00121894 40199 0 0.00197515
18-67795751-G-T p.His996Asn missense RTTN 2 80406 2.48738E-5 40203 0 NA
18-67795770-A-C p.Pro989Pro synonymous RTTN 1 80372 1.24421E-5 40186 0 1.70195E-5
18-67801719-C-T p.Val982Ile missense RTTN 2 80042 2.49869E-5 40021 0 2.59979E-5
18-67801720-G-A p.Ser981Ser synonymous RTTN 3 80048 3.74775E-5 40024 0 4.88337E-5
18-67801742-G-A p.Ser974Leu missense RTTN 6 80048 7.4955E-5 40024 0 6.37024E-5
18-67801744-T-C p.Pro973Pro synonymous RTTN 1 80056 1.24913E-5 40028 0 8.57412E-6
18-67801745-G-A p.Pro973Leu missense RTTN 1 80060 1.24906E-5 40030 0 4.06223E-6
18-67801751-G-A p.Ser971Phe missense RTTN 13 80042 1.62415E-4 40021 0 2.4036E-4
18-67801760-T-C p.Asn968Ser missense RTTN 1 79934 1.25103E-5 39967 0 NA
18-67801778-C-T c.2886-1G>A splice_acceptor RTTN 2 79644 2.51117E-5 39822 0 8.77547E-6
18-67801782-T-G c.2886-5A>C splice_region RTTN 1 79552 1.25704E-5 39776 0 NA
18-67802424-T-C p.Met961Val missense RTTN 9 79028 1.13884E-4 39514 0 8.44871E-5
18-67802430-T-C p.Met959Val missense RTTN 1 79222 1.26228E-5 39611 0 NA
18-67802434-C-T p.Ser957Ser synonymous RTTN 1 79274 1.26145E-5 39637 0 NA
18-67802435-G-A p.Ser957Leu missense RTTN 2 79296 2.5222E-5 39648 0 1.05812E-5
18-67802449-T-C p.Leu952Leu synonymous RTTN 1250 79492 0.0157249 39746 14 0.0238323
18-67802452-T-C p.Leu951Leu synonymous RTTN 1 79542 1.2572E-5 39771 0 1.07834E-5
18-67802469-C-T p.Ala946Thr missense RTTN 2 79570 2.51351E-5 39785 0 NA
18-67802479-A-G p.Thr942Thr synonymous RTTN 1 79716 1.25445E-5 39858 0 NA
18-67802484-C-G p.Val941Leu missense RTTN 21 79680 2.63554E-4 39840 0 5.03525E-4
18-67802485-G-A p.Val940Val synonymous RTTN 1 79722 1.25436E-5 39861 0 1.06215E-5
18-67802490-T-C p.Ser939Gly missense RTTN 407 79746 0.0051037 39873 6 0.00999873
18-67802493-A-C p.Cys938Gly missense RTTN 1 79748 1.25395E-5 39874 0 NA
18-67802501-T-C p.His935Arg missense RTTN 154 79700 0.00193225 39850 0 0.00158271
18-67806828-T-A c.2788+7A>T splice_region RTTN 2 80046 2.49856E-5 40023 0 2.52075E-5
18-67806847-C-A p.Val926Leu missense RTTN 1 80246 1.24617E-5 40123 0 3.18857E-5
18-67806847-C-T p.Val926Met missense RTTN 1 80246 1.24617E-5 40123 0 3.18857E-5
18-67806859-A-G p.Ser922Pro missense RTTN 1 80300 1.24533E-5 40150 0 NA
18-67806864-T-C p.Gln920Arg missense RTTN 1 80322 1.24499E-5 40161 0 8.31504E-6
18-67806864-T-A p.Gln920Leu missense RTTN 1 80322 1.24499E-5 40161 0 NA
18-67806866-T-C p.Gln919Gln synonymous RTTN 1 80306 1.24524E-5 40153 0 1.60741E-5
18-67806870-G-A p.Ser918Leu missense RTTN 2 80330 2.48973E-5 40165 0 8.31255E-6
18-67806872-G-A p.Leu917Leu synonymous RTTN 1 80356 1.24446E-5 40178 0 NA
18-67806874-G-C p.Leu917Val missense RTTN 1 80354 1.24449E-5 40177 0 NA
18-67806875-C-T p.Ser916Ser synonymous RTTN 3 80348 3.73376E-5 40174 0 8.03723E-6
18-67806882-C-T p.Arg914His missense RTTN 2 80376 2.4883E-5 40188 0 3.18695E-5
18-67806896-AC-A p.Gly909fs frameshift RTTN 1 80396 1.24384E-5 40198 0 4.01716E-6
18-67806906-A-C p.Val906Gly missense RTTN 2 80372 2.48843E-5 40186 0 NA
18-67806907-C-A p.Val906Phe missense RTTN 3 80368 3.73283E-5 40184 0 8.03465E-6
18-67806908-C-A p.Lys905Asn missense RTTN 2 80350 2.48911E-5 40175 0 NA
18-67806911-C-A p.Glu875* stop_gained RTTN 1 80342 1.24468E-5 40171 0 NA
18-67806914-CA-C p.Leu903fs frameshift RTTN 1 80340 1.24471E-5 40170 0 1.66072E-5
18-67806916-A-G p.Leu873Pro missense RTTN 3 80328 3.73469E-5 40164 0 6.37227E-5
18-67806930-G-C p.Pro898Arg missense RTTN 1 80252 1.24607E-5 40126 0 NA
18-67806931-G-T p.Pro898Thr missense RTTN 3 80236 3.73897E-5 40118 0 6.37511E-5
18-67806931-G-A p.Pro898Ser missense RTTN 2 80236 2.49265E-5 40118 0 4.02573E-6
18-67806937-C-T p.Val896Ile missense RTTN 1 80222 1.24654E-5 40111 0 8.05633E-6
18-67806943-A-G p.Cys894Arg missense RTTN 4 80158 4.99014E-5 40079 0 3.24114E-4
18-67806944-T-G p.Glu893Asp missense RTTN 1 80166 1.24741E-5 40083 0 NA
18-67807347-G-T p.Gln887Lys missense RTTN 1 80382 1.24406E-5 40191 0 4.0493E-6
18-67807356-A-G p.Cys884Arg missense RTTN 3 80418 3.73051E-5 40209 0 NA
18-67807370-T-A p.Glu879Val missense RTTN 1 80428 1.24335E-5 40214 0 4.03828E-6
18-67807385-A-G p.Ile874Thr missense RTTN 3 80374 3.73255E-5 40187 0 1.61636E-5
18-67807392-A-G p.Cys872Arg missense RTTN 3 80354 3.73348E-5 40177 0 3.18471E-5
18-67809516-G-A c.2581+8C>T splice_region RTTN 22 80018 2.74938E-4 40009 0 9.33995E-5
18-67809517-A-C c.2581+7T>G splice_region RTTN 1 80044 1.24931E-5 40022 0 8.10984E-6
18-67809523-C-A c.2581+1G>T splice_donor RTTN 1 80224 1.24651E-5 40112 0 NA
18-67809528-C-T p.Met859Ile missense RTTN 3 80370 3.73274E-5 40185 0 9.58528E-5
18-67809530-T-C p.Met859Val missense RTTN 1 80418 1.2435E-5 40209 0 2.51303E-5
18-67809537-A-T p.Ala856Ala synonymous RTTN 42 80542 5.21467E-4 40271 0 5.74713E-4
18-67809546-T-C p.Glu853Glu synonymous RTTN 1 80582 1.24097E-5 40291 0 NA
18-67809569-C-T p.Val846Ile missense RTTN 34 80564 4.22025E-4 40282 0 6.42137E-4
18-67809577-A-G p.Val843Ala missense RTTN 3 80560 3.72393E-5 40280 0 NA
18-67809585-T-G p.Ser840Ser synonymous RTTN 3 80496 3.72689E-5 40248 0 8.13405E-6
18-67809586-G-A p.Ser840Leu missense RTTN 1 80482 1.24251E-5 40241 0 NA
18-67809596-T-C p.Ile837Val missense RTTN 1 80362 1.24437E-5 40181 0 NA
18-67809619-T-TAAAAACCTCC p.Glu829fs frameshift RTTN 1 79314 1.26081E-5 39657 0 NA
18-67809625-T-A c.2482-2A>T splice_acceptor RTTN 2 78252 2.55585E-5 39126 0 0.00312891
18-67809627-C-A c.2482-4G>T splice_region RTTN 9 78534 1.146E-4 39267 0 0.00250941
18-67809630-AC-A c.2482-8delG splice_region RTTN 3 78920 3.80132E-5 39460 0 1.30617E-4
18-67809631-C-A c.2482-8G>T splice_region RTTN 1 78508 1.27376E-5 39254 0 1.76162E-5
18-67812842-A-G c.2481+6T>C splice_region RTTN 1 80300 1.24533E-5 40150 0 4.61621E-6
18-67812863-T-C p.Arg822Arg synonymous RTTN 184 80738 0.00227898 40369 5 0.0049672
18-67812880-T-C p.Arg817Gly missense RTTN 2 80814 2.47482E-5 40407 0 3.1839E-5
18-67812889-T-C p.Ile814Val missense RTTN 1 80846 1.23692E-5 40423 0 8.30261E-6
18-67812903-A-G p.Ile809Thr missense RTTN 2 80848 2.47378E-5 40424 0 3.1837E-5
18-67812928-G-C p.Leu801Val missense RTTN 1 80850 1.23686E-5 40425 0 NA
18-67812938-G-A p.Asp797Asp synonymous RTTN 10 80844 1.23695E-4 40422 0 1.65793E-4
18-67812951-C-T p.Arg793His missense RTTN 3 80848 3.71067E-5 40424 0 6.42529E-5
18-67812962-A-C p.Ala789Ala synonymous RTTN 2 80866 2.47323E-5 40433 0 1.65774E-5
18-67812963-G-C p.Ala789Gly missense RTTN 3 80856 3.7103E-5 40428 0 8.28885E-6
18-67812968-T-C p.Glu787Glu synonymous RTTN 2 80854 2.47359E-5 40427 0 4.02046E-6
18-67812974-A-G p.Ser785Ser synonymous RTTN 23 80848 2.84484E-4 40424 0 0.00100705
18-67812978-G-A p.Thr784Ile missense RTTN 1 80838 1.23704E-5 40419 0 4.02586E-6
18-67812984-T-C p.His782Arg missense RTTN 2 80852 2.47366E-5 40426 0 NA
18-67812998-C-T p.Lys777Lys synonymous RTTN 1 80866 1.23661E-5 40433 0 NA
18-67813010-C-T p.Ser773Ser synonymous RTTN 2 80724 2.47758E-5 40362 0 3.32651E-5
18-67813011-G-A p.Ser773Leu missense RTTN 5 80746 6.19226E-5 40373 0 1.27453E-4
18-67816137-G-A p.Ser770Leu missense+splice_region RTTN 2 80290 2.49097E-5 40145 0 3.31614E-5
18-67816142-C-T p.Lys768Lys synonymous RTTN 1 80294 1.24542E-5 40147 0 NA
18-67816147-T-C p.Lys767Glu missense RTTN 4 80296 4.98157E-5 40148 0 NA
18-67816148-C-T p.Val766Val synonymous RTTN 1 80308 1.24521E-5 40154 0 NA
18-67816155-A-C p.Leu764Trp missense RTTN 1 80280 1.24564E-5 40140 0 NA
18-67816156-A-G p.Leu764Leu synonymous RTTN 1 80282 1.24561E-5 40141 0 NA
18-67816165-G-A p.Leu761Leu synonymous RTTN 3 80306 3.73571E-5 40153 0 1.6578E-5
18-67816168-T-C p.Met760Val missense RTTN 4 80336 4.97909E-5 40168 0 8.28885E-6
18-67816171-A-C p.Ser759Ala missense RTTN 1 80348 1.24459E-5 40174 0 8.03077E-6
18-67816175-T-C p.Leu757Leu synonymous RTTN 1 80348 1.24459E-5 40174 0 4.01513E-6
18-67816181-G-A p.Thr755Thr synonymous RTTN 6 80366 7.46584E-5 40183 0 NA
18-67816184-A-G p.Thr754Thr synonymous RTTN 3 80364 3.73301E-5 40182 0 8.28899E-6
18-67816190-C-T p.Pro752Pro synonymous RTTN 1 80386 1.244E-5 40193 0 5.03525E-4
18-67816191-G-A p.Pro752Leu missense RTTN 22 80398 2.73639E-4 40199 0 0.00127397
18-67816196-C-G p.Met750Ile missense RTTN 2 80426 2.48676E-5 40213 0 NA
18-67816209-T-G p.Asp746Ala missense RTTN 1 80470 1.2427E-5 40235 0 6.25E-4
18-67816224-C-T p.Ser741Asn missense RTTN 1 80478 1.24258E-5 40239 0 NA
18-67816226-TAGA-T p.Leu740del disruptive_inframe_deletion RTTN 1 80488 1.24242E-5 40244 0 4.01355E-6
18-67816243-T-G p.Asn735His missense RTTN 1 80430 1.24332E-5 40215 0 NA
18-67816256-T-G p.Glu730Asp missense RTTN 1 80400 1.24378E-5 40200 0 0.00125
18-67816263-T-G p.Asp728Ala missense RTTN 4 80338 4.97896E-5 40169 0 1.27372E-4
18-67816264-C-T p.Asp728Asn missense RTTN 14 80334 1.74272E-4 40167 0 6.37349E-5
18-67816265-G-A p.Ala727Ala synonymous RTTN 7 80310 8.71622E-5 40155 0 1.08697E-4
18-67816278-T-C c.2173-5A>G splice_region RTTN 1 80120 1.24813E-5 40060 0 4.11858E-6
18-67816281-A-C c.2173-8T>G splice_region RTTN 1 80036 1.24944E-5 40018 0 NA
18-67817199-C-G c.2172+8G>C splice_region RTTN 2 80186 2.4942E-5 40093 0 6.37064E-5
18-67817201-G-A c.2172+6C>T splice_region RTTN 5 80216 6.23317E-5 40108 0 2.4133E-5
18-67817226-G-A p.Pro718Leu missense RTTN 4 80370 4.97698E-5 40185 0 3.18451E-5
18-67817237-T-G p.Glu714Asp missense RTTN 1 80422 1.24344E-5 40211 0 4.9819E-5
18-67817260-A-G p.Leu707Leu synonymous RTTN 1 80506 1.24214E-5 40253 0 5.03525E-4
18-67817261-T-C p.Ala706Ala synonymous RTTN 35 80520 4.34675E-4 40260 0 2.86734E-4
18-67817277-C-T p.Arg701Gln missense RTTN 1 80564 1.24125E-5 40282 0 3.18654E-5
18-67817289-AG-A p.Leu697fs frameshift RTTN 1 80564 1.24125E-5 40282 0 NA
18-67817290-G-A p.Leu697Leu synonymous RTTN 1 80564 1.24125E-5 40282 0 8.29876E-6
18-67817291-G-C p.Tyr696* stop_gained RTTN 1 80562 1.24128E-5 40281 0 NA
18-67817386-C-T n.654G>A splice_region RTTN 1 77938 1.28307E-5 38969 0 NA
18-67817388-C-T n.652G>A splice_region RTTN 24 77792 3.08515E-4 38896 0 1.59236E-4
18-67817392-G-T n.652-4C>A splice_region RTTN 1 77430 1.29149E-5 38715 0 NA
18-67817837-G-A c.2055+7C>T splice_region RTTN 1604 80414 0.0199468 40207 20 0.0158475
18-67817844-C-T p.Glu685Glu splice_region+synonymous RTTN 2 80486 2.4849E-5 40243 0 NA
18-67817852-C-T p.Glu683Lys missense RTTN 3 80478 3.72773E-5 40239 0 4.14635E-5
18-67817853-G-A p.Pro682Pro synonymous RTTN 3 80486 3.72736E-5 40243 0 2.01175E-5
18-67817869-A-C p.Phe677Cys missense RTTN 9 80518 1.11776E-4 40259 0 1.07735E-4
18-67817871-T-C p.Val676Val synonymous RTTN 1 80518 1.24196E-5 40259 0 3.18532E-5
18-67817880-T-A p.Glu673Asp missense RTTN 1 80564 1.24125E-5 40282 0 NA
18-67817896-G-C p.Pro668Arg missense RTTN 3 80566 3.72366E-5 40283 0 NA
18-67817898-A-G p.His667His synonymous RTTN 1 80574 1.2411E-5 40287 0 3.18512E-5
18-67817918-C-T p.Gly661Arg missense RTTN 1 80590 1.24085E-5 40295 0 NA
18-67817936-C-T p.Val655Met missense RTTN 2 80516 2.48398E-5 40258 0 3.18613E-5
18-67817937-G-A p.Pro654Pro synonymous RTTN 2 80500 2.48447E-5 40250 0 6.37552E-5
18-67817938-G-A p.Pro654Leu missense RTTN 2 80506 2.48429E-5 40253 0 NA
18-67817944-G-A p.Thr652Ile missense RTTN 1 80468 1.24273E-5 40234 0 8.29339E-6
18-67817948-C-T p.Val651Ile missense RTTN 2 80414 2.48713E-5 40207 0 NA
18-67817955-G-A p.Val648Val synonymous RTTN 2 80332 2.48967E-5 40166 0 NA
18-67817955-G-C p.Val648Val synonymous RTTN 1 80332 1.24483E-5 40166 0 3.18634E-5
18-67817965-C-T p.Cys645Tyr missense RTTN 2 80154 2.4952E-5 40077 0 NA
18-67817967-T-C p.Glu644Glu splice_region+synonymous RTTN 2 79882 2.50369E-5 39941 0 NA
18-67833295-C-T c.1929+3G>A splice_region RTTN 288 80784 0.00356506 40392 2 0.00687767
18-67833306-T-C p.Ile641Val missense RTTN 646 80834 0.00799169 40417 4 0.0146613
18-67833329-T-C p.Glu633Gly missense RTTN 1 80858 1.23674E-5 40429 0 NA
18-67833340-T-G p.Arg629Arg synonymous RTTN 3 80874 3.70947E-5 40437 0 9.55049E-5
18-67833347-A-G p.Leu627Ser missense RTTN 3 80880 3.7092E-5 40440 0 7.51415E-5
18-67833358-C-A p.Leu623Phe missense RTTN 3 80870 3.70966E-5 40435 0 3.33495E-5
18-67833361-C-T p.Met622Ile missense RTTN 2 80862 2.47335E-5 40431 0 3.1839E-5
18-67833365-T-G p.His621Pro missense RTTN 1 80850 1.23686E-5 40425 0 NA
18-67833374-A-G p.Val618Ala missense RTTN 3 80824 3.71177E-5 40412 0 NA
18-67833375-C-T p.Val618Met missense RTTN 1 80818 1.23735E-5 40409 0 3.1841E-5
18-67833383-C-CTTTCTCCTT p.Glu614_Ser615insLysGlyGlu conservative_inframe_insertion RTTN 1 80808 1.2375E-5 40404 0 NA
18-67833385-T-C p.Glu614Glu synonymous RTTN 1008 80800 0.0124752 40400 16 0.0169517
18-67833389-C-T p.Gly613Glu missense RTTN 1 80812 1.23744E-5 40406 0 1.60608E-5
18-67833393-G-A p.Gln612* stop_gained RTTN 1 80810 1.23747E-5 40405 0 NA
18-67833396-G-A p.Leu611Leu synonymous RTTN 11 80784 1.36166E-4 40392 0 2.22873E-4
18-67833412-A-G p.Ala605Ala synonymous RTTN 1 80712 1.23897E-5 40356 0 NA
18-67833426-T-G c.1803-2A>C splice_acceptor RTTN 2 80616 2.4809E-5 40308 0 8.312E-6
18-67834168-T-C p.Ile597Val missense RTTN 1 80592 1.24082E-5 40296 0 4.02088E-6
18-67834180-C-T p.Glu593Lys missense RTTN 11 80626 1.36432E-4 40313 0 0.00875
18-67834189-G-A p.Leu590Leu synonymous RTTN 2 80634 2.48034E-5 40317 0 3.18451E-5
18-67834191-G-A p.Pro589Leu missense RTTN 5 80638 6.20055E-5 40319 0 0.00133758
18-67834199-C-A p.Gln586His missense RTTN 1 80684 1.2394E-5 40342 0 NA
18-67834204-G-A p.His585Tyr missense RTTN 1 80692 1.23928E-5 40346 0 1.66259E-5
18-67834206-T-C p.Tyr584Cys missense RTTN 1 80692 1.23928E-5 40346 0 1.16383E-4
18-67834216-T-C p.Ser581Gly missense RTTN 3 80648 3.71987E-5 40324 0 5.03525E-4
18-67834216-T-A p.Ser581Cys missense RTTN 1 80648 1.23996E-5 40324 0 NA
18-67834218-C-T p.Arg580His missense RTTN 2 80644 2.48004E-5 40322 0 3.18492E-5
18-67834218-C-A p.Arg580Leu missense RTTN 1 80644 1.24002E-5 40322 0 4.01571E-6
18-67834219-G-A p.Arg580Cys missense RTTN 10 80638 1.24011E-4 40319 0 9.98486E-5
18-67834227-T-C p.Gln577Arg missense RTTN 1 80628 1.24026E-5 40314 0 4.0169E-6
18-67834228-G-C p.Gln577Glu missense RTTN 1 80622 1.24036E-5 40311 0 NA
18-67834247-T-G p.Glu570Asp missense RTTN 12 80530 1.49013E-4 40265 0 6.84209E-5
18-67836090-C-A c.1689+1G>T splice_donor RTTN 1 80044 1.24931E-5 40022 0 NA
18-67836091-C-G p.Glu563Asp missense+splice_region RTTN 2 80084 2.49738E-5 40042 0 NA
18-67836095-T-C p.Lys562Arg missense RTTN 1 80196 1.24694E-5 40098 0 1.66959E-5
18-67836097-C-T p.Gly561Gly synonymous RTTN 1 80212 1.2467E-5 40106 0 NA
18-67836101-A-G p.Ile560Thr missense RTTN 1 80340 1.24471E-5 40170 0 3.18471E-5
18-67836104-T-G p.Asp559Ala missense RTTN 18 80368 2.2397E-4 40184 0 4.14171E-4
18-67836107-G-A p.Ser558Phe missense RTTN 1 80412 1.2436E-5 40206 0 1.62606E-5
18-67836107-G-T p.Ser558Tyr missense RTTN 2 80412 2.48719E-5 40206 0 NA
18-67836115-G-T p.Asn555Lys missense RTTN 995 80468 0.0123652 40234 14 0.0168922
18-67836120-A-G p.Cys554Arg missense RTTN 1 80560 1.24131E-5 40280 0 8.29752E-6
18-67836121-G-A p.Thr553Thr synonymous RTTN 5 80562 6.2064E-5 40281 0 0.00151057
18-67836128-T-A p.Glu551Val missense RTTN 2 80602 2.48133E-5 40301 0 6.37064E-5
18-67836132-T-C p.Ile550Val missense RTTN 1 80634 1.24017E-5 40317 0 1.65848E-5
18-67836137-T-C p.Tyr548Cys missense RTTN 1 80666 1.23968E-5 40333 0 1.65818E-5
18-67836141-C-T p.Val547Ile missense RTTN 4 80684 4.95761E-5 40342 0 1.40934E-4
18-67836155-C-T p.Arg542Gln missense RTTN 6 80728 7.43237E-5 40364 0 1.07741E-4
18-67836156-G-A p.Arg542* stop_gained RTTN 2 80744 2.47696E-5 40372 0 1.60434E-5
18-67836159-T-A p.Lys541* stop_gained RTTN 1 80764 1.23818E-5 40382 0 8.02066E-6
18-67836171-A-G p.Tyr537His missense RTTN 1 80770 1.23808E-5 40385 0 3.31488E-5
18-67836186-G-T p.Leu532Met missense RTTN 1 80740 1.23854E-5 40370 0 3.18634E-5
18-67836190-T-C p.Asn499Ser missense RTTN 1 80726 1.23876E-5 40363 0 4.01123E-6
18-67836210-C-T c.1477-1G>A splice_acceptor RTTN 1 80696 1.23922E-5 40348 0 2.48723E-5
18-67836217-A-G c.1477-8T>C splice_region RTTN 126 80732 0.00156072 40366 0 0.00110339
18-67836238-A-G p.Ile514Ile synonymous RTTN 1 80744 1.23848E-5 40372 0 NA
18-67836297-C-T p.Glu495Lys missense RTTN 8 80098 9.98777E-5 40049 0 9.95727E-5
18-67836298-G-A p.Ser494Ser synonymous RTTN 2 80014 2.49956E-5 40007 0 5.06586E-4
18-67836299-C-T p.Ser494Asn missense RTTN 1 80054 1.24916E-5 40027 0 NA
18-67843915-T-C p.Glu491Gly missense RTTN 1 80342 1.24468E-5 40171 0 NA
18-67843919-C-T p.Val490Ile missense RTTN 1 80386 1.244E-5 40193 0 3.1839E-5
18-67843929-C-T p.Thr486Thr synonymous RTTN 110 80458 0.00136717 40229 0 0.00283349
18-67843930-G-A p.Thr486Met missense RTTN 1 80516 1.24199E-5 40258 0 5.03525E-4
18-67843939-A-C p.Leu483Arg missense RTTN 1 80572 1.24113E-5 40286 0 NA
18-67843957-G-C p.Ser477Cys missense RTTN 3 80694 3.71775E-5 40347 0 6.25E-4
18-67843964-T-C p.Ser475Gly missense RTTN 6 80724 7.43273E-5 40362 0 6.82347E-5
18-67843965-G-A p.Ile474Ile synonymous RTTN 1 80720 1.23885E-5 40360 0 8.28322E-6
18-67843990-A-G p.Leu466Pro missense RTTN 1 80746 1.23845E-5 40373 0 NA
18-67843991-G-T p.Leu466Ile missense RTTN 1 80750 1.23839E-5 40375 0 NA
18-67844004-C-T p.Gln461Gln synonymous RTTN 1 80766 1.23814E-5 40383 0 8.28199E-6
18-67844010-C-T p.Leu459Leu synonymous RTTN 1 80774 1.23802E-5 40387 0 1.65648E-5
18-67844014-C-T p.Ser458Asn missense RTTN 1 80790 1.23778E-5 40395 0 3.1837E-5
18-67844019-A-G p.Ser456Ser synonymous RTTN 1 80802 1.23759E-5 40401 0 NA
18-67844024-T-C p.Ser455Gly missense RTTN 1 80800 1.23762E-5 40400 0 8.28308E-6
18-67844029-T-C p.His453Arg missense RTTN 1 80792 1.23775E-5 40396 0 6.3678E-5
18-67844030-G-A p.His453Tyr missense RTTN 3 80778 3.71388E-5 40389 0 1.65681E-5
18-67844032-T-TAGC p.Cys451dup conservative_inframe_insertion RTTN 1 80790 1.23778E-5 40395 0 1.65684E-5
18-67844035-C-T p.Cys451Tyr missense RTTN 2 80786 2.47568E-5 40393 0 0.00100705
18-67844054-C-T p.Ala445Thr missense RTTN 2 80748 2.47684E-5 40374 0 9.55292E-5
18-67844057-C-T p.Gly444Arg missense RTTN 99 80748 0.00122604 40374 1 0.00194243
18-67844069-G-A p.Leu440Phe missense RTTN 3 80722 3.71646E-5 40361 0 5.23417E-5
18-67844070-T-C p.Leu439Leu synonymous RTTN 2 80712 2.47795E-5 40356 0 4.03792E-6
18-67844072-GT-G p.Lys438fs frameshift RTTN 1 80710 1.239E-5 40355 0 NA
18-67844079-C-T p.Lys436Lys splice_region+synonymous RTTN 1 80632 1.2402E-5 40316 0 NA
18-67855341-T-TA c.1305+2_1305+3insT splice_donor RTTN 1 80490 1.24239E-5 40245 0 4.03174E-6
18-67855348-T-G p.Asp434Ala missense RTTN 15 80546 1.86229E-4 40273 0 4.14197E-4
18-67855377-G-C p.Ile424Met missense RTTN 11 80674 1.36351E-4 40337 0 3.21197E-5
18-67855377-GA-G p.Ile424fs frameshift RTTN 1 80674 1.23956E-5 40337 0 4.01497E-6
18-67855386-TGAAATTGCTTC-T p.Glu418fs frameshift RTTN 1 80688 1.23934E-5 40344 0 NA
18-67855391-T-C p.Ile420Val missense RTTN 5 80664 6.19855E-5 40332 0 1.60543E-5
18-67855397-C-T p.Glu418Lys missense RTTN 1 80652 1.23989E-5 40326 0 NA
18-67855402-A-G p.Ile416Thr missense RTTN 1 80638 1.24011E-5 40319 0 1.6603E-5
18-67855407-T-C p.Thr414Thr synonymous RTTN 1 80614 1.24048E-5 40307 0 NA
18-67855408-G-GTCA p.Met413dup conservative_inframe_insertion RTTN 1 80610 1.24054E-5 40305 0 NA
18-67855410-C-T p.Met413Ile missense RTTN 1 80600 1.24069E-5 40300 0 6.25E-4
18-67855411-A-G p.Met413Thr missense RTTN 5 80598 6.20363E-5 40299 0 NA
18-67855423-A-G p.Leu409Pro missense RTTN 1 80540 1.24162E-5 40270 0 NA
18-67855424-G-A p.Leu409Phe missense RTTN 1 80526 1.24183E-5 40263 0 8.30841E-6
18-67855428-T-C p.Glu407Glu synonymous RTTN 34 80512 4.22297E-4 40256 0 6.68534E-4
18-67855434-A-G p.Val405Val synonymous RTTN 2 80444 2.4862E-5 40222 0 7.48466E-5
18-67855439-T-C p.Arg404Gly missense RTTN 1 80408 1.24366E-5 40204 0 8.32168E-6
18-67855443-T-C p.Ile402Met missense RTTN 3 80366 3.73292E-5 40183 0 5.03525E-4
18-67855461-T-C c.1190-2A>G splice_acceptor RTTN 1 80080 1.24875E-5 40040 0 NA
18-67857820-C-A p.Gln381His missense RTTN 1 80942 1.23545E-5 40471 0 3.18552E-5
18-67857831-T-C p.Ser378Gly missense RTTN 1 80946 1.23539E-5 40473 0 1.60348E-5
18-67857844-T-G p.Gln373His missense RTTN 2 80956 2.47048E-5 40478 0 4.00853E-6
18-67857846-G-A p.Gln373* stop_gained RTTN 1 80950 1.23533E-5 40475 0 NA
18-67857858-T-C p.Thr369Ala missense RTTN 1 80956 1.23524E-5 40478 0 NA