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Gene: CREB3L1

DECIPHER
Ensembl
GeneCards
HGNC
IGMDx
OMIM
RVIS


Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-46299285-C-T c.-378C>T 5_prime_UTR_premature_start_codon_gain CREB3L1 2 5302 3.77216E-4 2651 0 NA
11-46299545-C-G c.-118C>G 5_prime_UTR_premature_start_codon_gain CREB3L1 1 53248 1.878E-5 26624 0 NA
11-46299655-C-T c.-8C>T 5_prime_UTR_premature_start_codon_gain CREB3L1 1 78784 1.26929E-5 39392 0 NA
11-46299664-T-C p.Met1? start_lost CREB3L1 1 79038 1.26521E-5 39519 0 6.35817E-6
11-46299671-C-A p.Ala3Ala synonymous CREB3L1 5 79144 6.3176E-5 39572 0 1.85834E-5
11-46299682-C-G p.Pro7Arg missense CREB3L1 2 79442 2.51756E-5 39721 0 NA
11-46299689-G-A p.Pro9Pro synonymous CREB3L1 2 79338 2.52086E-5 39669 0 0.00253293
11-46299689-G-C p.Pro9Pro synonymous CREB3L1 2 79338 2.52086E-5 39669 0 NA
11-46299698-G-A p.Arg12Arg synonymous CREB3L1 1 79374 1.25986E-5 39687 0 NA
11-46299708-G-C p.Gly16Arg missense CREB3L1 1 79312 1.26084E-5 39656 0 NA
11-46299721-T-C p.Leu20Pro missense CREB3L1 1 79252 1.2618E-5 39626 0 NA
11-46299725-C-T p.Asp21Asp synonymous CREB3L1 1 79188 1.26282E-5 39594 0 NA
11-46299745-C-T p.Ser28Leu missense CREB3L1 1 79024 1.26544E-5 39512 0 NA
11-46299754-TCAA-T p.Asn33del disruptive_inframe_deletion CREB3L1 1 79004 1.26576E-5 39502 0 NA
11-46299763-C-A p.Ala34Glu missense+splice_region CREB3L1 1 78880 1.26775E-5 39440 0 NA
11-46321503-G-A p.Leu40Leu synonymous CREB3L1 1 82514 1.21192E-5 41257 0 NA
11-46321514-C-T p.Thr44Met missense CREB3L1 1 82646 1.20998E-5 41323 0 1.67676E-5
11-46321515-G-A p.Thr44Thr synonymous CREB3L1 8 82660 9.6782E-5 41330 1 6.25E-4
11-46321525-GAGGACT-G p.Glu48_Phe50delinsVal disruptive_inframe_deletion CREB3L1 2 82752 2.41686E-5 41376 0 3.18552E-5
11-46321538-A-G p.Asn52Ser missense CREB3L1 2 82804 2.41534E-5 41402 0 3.18674E-5
11-46321544-T-C p.Leu54Pro missense CREB3L1 1 82808 1.20761E-5 41404 0 NA
11-46321567-C-T p.Pro62Ser missense CREB3L1 1 82844 1.20709E-5 41422 0 NA
11-46321575-G-A p.Leu64Leu synonymous CREB3L1 3 82844 3.62126E-5 41422 0 NA
11-46321585-A-G p.Ser68Gly missense CREB3L1 1 82840 1.20715E-5 41420 0 4.01323E-6
11-46321619-C-T p.Thr79Met missense CREB3L1 16 82832 1.93162E-4 41416 0 0.00125
11-46321620-G-A p.Thr79Thr synonymous CREB3L1 4 82830 4.82917E-5 41415 0 2.54095E-5
11-46321624-G-A p.Gly81Ser missense CREB3L1 4 82820 4.82975E-5 41410 0 8.49329E-6
11-46321634-C-T p.Ala84Val missense CREB3L1 5 82800 6.03865E-5 41400 0 4.27599E-5
11-46321635-G-A p.Ala84Ala synonymous CREB3L1 11 82788 1.32869E-4 41394 0 0.00151057
11-46321640-A-T p.His86Leu missense CREB3L1 1 82796 1.20779E-5 41398 0 NA
11-46321642-A-G p.Ser87Gly missense CREB3L1 1 82798 1.20776E-5 41399 0 8.59328E-6
11-46321644-C-T p.Ser87Ser synonymous CREB3L1 5 82798 6.03879E-5 41399 0 0.00100705
11-46321647-C-T p.Tyr88Tyr synonymous CREB3L1 1 82786 1.20793E-5 41393 0 2.60277E-5
11-46321656-C-T p.Ser91Ser synonymous CREB3L1 4 82752 4.83372E-5 41376 0 1.76563E-5
11-46321657-G-A p.Gly92Ser missense CREB3L1 101 82750 0.00122054 41375 0 0.001875
11-46321660-G-A p.Asp93Asn missense CREB3L1 4 82720 4.83559E-5 41360 0 1.28858E-4
11-46321667-C-T p.Ala95Val missense CREB3L1 136 82656 0.00164537 41328 2 0.00805639
11-46321668-G-A p.Ala95Ala synonymous CREB3L1 3 82632 3.63055E-5 41316 0 3.18634E-5
11-46321671-C-T p.Pro96Pro synonymous CREB3L1 1 82632 1.21018E-5 41316 0 0.0020141
11-46321676-G-GC p.Leu100fs frameshift CREB3L1 1 82588 1.21083E-5 41294 0 NA
11-46321677-C-A p.Ser98Arg missense CREB3L1 1 82590 1.2108E-5 41295 0 9.39391E-6
11-46321678-C-A p.Pro99Thr missense CREB3L1 1 82568 1.21112E-5 41284 0 NA
11-46321706-C-A p.Thr108Asn missense CREB3L1 1 81980 1.21981E-5 40990 0 NA
11-46329384-T-G p.Trp117Gly missense CREB3L1 2 81152 2.46451E-5 40576 0 9.58344E-5
11-46329388-C-T p.Ala118Val missense CREB3L1 10 81186 1.23174E-4 40593 0 1.59551E-4
11-46329389-G-A p.Ala118Ala synonymous CREB3L1 1 81206 1.23144E-5 40603 0 5.04032E-4
11-46329392-G-A p.Leu119Leu synonymous CREB3L1 2 81298 2.46009E-5 40649 0 5.07341E-6
11-46329422-G-A p.Lys129Lys synonymous CREB3L1 3 81536 3.67936E-5 40768 0 3.57475E-5
11-46329433-G-A p.Ser133Asn missense CREB3L1 3 81466 3.68252E-5 40733 0 1.05899E-5
11-46329436-C-G p.Pro134Arg missense CREB3L1 22 81392 2.70297E-4 40696 0 0.0025227
11-46329436-C-T p.Pro134Leu missense CREB3L1 2 81394 2.45718E-5 40697 0 3.19244E-5
11-46329437-G-C p.Pro134Pro synonymous CREB3L1 1 81418 1.22823E-5 40709 0 3.19163E-5
11-46329437-G-T p.Pro134Pro synonymous CREB3L1 1 81418 1.22823E-5 40709 0 NA
11-46329446-C-T p.Pro137Pro synonymous CREB3L1 6 81222 7.38716E-5 40611 0 3.61089E-5
11-46329447-G-A p.Val138Met missense CREB3L1 2 81194 2.46324E-5 40597 0 3.58783E-5
11-46329454-C-A p.Pro140His missense CREB3L1 3 81062 3.70087E-5 40531 0 5.25674E-6
11-46329464-C-T p.Ala143Ala synonymous CREB3L1 1 80724 1.23879E-5 40362 0 8.13339E-5
11-46329469-C-T p.Ser145Leu missense CREB3L1 2 80198 2.49383E-5 40099 0 4.38827E-5
11-46329470-G-A p.Ser145Ser synonymous CREB3L1 30 79388 3.77891E-4 39694 0 3.68358E-4
11-46329479-T-G p.Ala148Ala synonymous CREB3L1 1 78608 1.27214E-5 39304 0 NA
11-46329480-G-C p.Ala149Pro missense CREB3L1 1 78636 1.27168E-5 39318 0 1.21297E-5
11-46329482-C-T p.Ala149Ala synonymous CREB3L1 7 78648 8.90042E-5 39324 0 0.00103093
11-46329483-G-A p.Ala150Thr missense CREB3L1 6 78444 7.64877E-5 39222 0 6.36132E-4
11-46329484-C-T p.Ala150Val missense CREB3L1 1 78490 1.27405E-5 39245 0 1.80673E-5
11-46329485-G-A p.Ala150Ala synonymous CREB3L1 86 78614 0.00109395 39307 1 0.00206825
11-46329488-C-A p.Ala105Ala splice_region+synonymous CREB3L1 1 79034 1.26528E-5 39517 0 NA
11-46329489-G-A p.Ala152Thr missense CREB3L1 795 78986 0.0100651 39493 6 0.0206186
11-46329498-A-C p.Thr155Pro missense CREB3L1 41 79148 5.18017E-4 39574 0 0.00819672
11-46329505-C-G p.Pro157Arg missense CREB3L1 1 79592 1.25641E-5 39796 0 5.18188E-5
11-46329505-C-T p.Pro157Leu missense CREB3L1 2 79592 2.51282E-5 39796 0 NA
11-46329506-G-A p.Pro157Pro synonymous CREB3L1 4 79456 5.03423E-5 39728 0 2.85352E-5
11-46329521-C-T p.Ser162Ser synonymous CREB3L1 9 79532 1.13162E-4 39766 0 5.45078E-5
11-46329527-G-A p.Leu164Leu synonymous CREB3L1 1 79508 1.25774E-5 39754 0 5.5816E-5
11-46329529-C-T p.Ser165Phe missense CREB3L1 1 79464 1.25843E-5 39732 0 NA
11-46329541-T-C p.Ile169Thr missense CREB3L1 3 79110 3.79219E-5 39555 0 2.46154E-4
11-46329543-C-T p.Pro170Ser missense CREB3L1 1 79132 1.26371E-5 39566 0 1.30514E-5
11-46329545-C-T p.Pro170Pro synonymous CREB3L1 1 79114 1.264E-5 39557 0 1.99142E-5
11-46331537-C-T c.517-3C>T splice_region CREB3L1 9 81480 1.10457E-4 40740 0 NA
11-46331540-G-GC p.Glu176fs frameshift CREB3L1 1 81488 1.22717E-5 40744 0 NA
11-46331544-C-T p.Pro174Leu missense CREB3L1 3 81578 3.67746E-5 40789 0 1.04664E-4
11-46331545-G-A p.Pro174Pro synonymous CREB3L1 4 81640 4.89956E-5 40820 0 5.03525E-4
11-46331562-T-C p.Leu180Pro missense CREB3L1 2 81884 2.44248E-5 40942 0 NA
11-46331564-C-T p.Pro181Ser missense CREB3L1 2 81916 2.44153E-5 40958 0 NA
11-46331570-A-T p.Ile183Phe missense CREB3L1 2 81982 2.43956E-5 40991 0 7.17824E-5
11-46331588-G-A p.Glu189Lys missense CREB3L1 2 81996 2.43914E-5 40998 0 3.77131E-5
11-46331609-G-T p.Val196Leu missense CREB3L1 1 81952 1.22023E-5 40976 0 4.72612E-6
11-46331616-C-T p.Pro198Leu missense+splice_region CREB3L1 2 81776 2.44571E-5 40888 0 6.37836E-5
11-46331617-G-A p.Pro198Pro splice_region+synonymous CREB3L1 2 81768 2.44594E-5 40884 0 3.92168E-5
11-46331622-G-A c.595+4G>A splice_region CREB3L1 1 81680 1.22429E-5 40840 0 NA
11-46332575-C-T c.596-8C>T splice_region CREB3L1 2 79480 2.51636E-5 39740 0 NA
11-46332586-A-T p.Asp200Val missense CREB3L1 311 79826 0.00389597 39913 0 0.0043054
11-46332587-C-T p.Asp200Asp synonymous CREB3L1 1 79868 1.25207E-5 39934 0 7.87181E-5
11-46332604-C-T p.Pro206Leu missense CREB3L1 5 80252 6.23037E-5 40126 0 3.44364E-5
11-46332605-G-A p.Pro206Pro synonymous CREB3L1 2 80270 2.49159E-5 40135 0 1.71762E-5
11-46332608-G-A p.Thr207Thr synonymous CREB3L1 14 80346 1.74246E-4 40173 0 5.03525E-4
11-46332608-G-GC p.Ser210fs frameshift CREB3L1 1 80346 1.24462E-5 40173 0 2.57074E-5
11-46332611-C-T p.Pro208Pro synonymous CREB3L1 1 80582 1.24097E-5 40291 0 4.1376E-6
11-46332623-T-C p.His212His synonymous CREB3L1 2 80944 2.47084E-5 40472 0 NA
11-46332635-C-T p.Ser216Ser synonymous CREB3L1 1 80994 1.23466E-5 40497 0 3.37405E-5
11-46332636-G-A p.Asp217Asn missense CREB3L1 2 81052 2.46755E-5 40526 0 3.18654E-5
11-46332638-C-T p.Asp217Asp synonymous CREB3L1 48 81052 5.92212E-4 40526 0 5.22669E-4
11-46332639-G-C p.Gly218Arg missense CREB3L1 9 81050 1.11043E-4 40525 0 6.26566E-4
11-46332654-C-T p.Arg223Cys missense CREB3L1 5 81140 6.16219E-5 40570 0 2.48157E-5
11-46332655-G-A p.Arg223His missense CREB3L1 3 81056 3.70115E-5 40528 0 1.24277E-5
11-46332656-C-T p.Arg223Arg synonymous CREB3L1 2 81106 2.46591E-5 40553 0 8.47687E-5
11-46332667-C-A p.Pro227His missense CREB3L1 1 81164 1.23207E-5 40582 0 8.52893E-6
11-46332667-C-G p.Pro227Arg missense CREB3L1 1 81164 1.23207E-5 40582 0 4.15E-6
11-46332683-G-A p.Arg232Arg synonymous CREB3L1 1 81294 1.2301E-5 40647 0 NA
11-46332688-T-C p.Met234Thr missense CREB3L1 2 81284 2.46051E-5 40642 0 NA
11-46332691-C-T p.Ala235Val missense CREB3L1 2 81190 2.46336E-5 40595 0 2.10185E-5
11-46332692-G-A p.Ala235Ala synonymous CREB3L1 1 81180 1.23183E-5 40590 0 3.18796E-5
11-46332693-C-T p.Arg236Cys missense CREB3L1 5 81188 6.15855E-5 40594 0 0.00100705
11-46332694-G-A p.Arg236His missense CREB3L1 19 81188 2.34025E-4 40594 0 1.2751E-4
11-46332696-T-C p.Ser237Pro missense CREB3L1 1 81180 1.23183E-5 40590 0 1.85901E-5
11-46332703-C-T p.Thr239Met missense CREB3L1 678 81110 0.00835902 40555 23 0.0141975
11-46332704-G-A p.Thr239Thr synonymous CREB3L1 3 81086 3.69978E-5 40543 0 9.82898E-5
11-46332716-C-A p.Thr243Thr synonymous CREB3L1 1 80858 1.23674E-5 40429 0 NA
11-46332717-T-TC p.Leu246fs frameshift CREB3L1 1 80834 1.2371E-5 40417 0 NA
11-46332722-A-G p.Pro245Pro synonymous CREB3L1 4 80650 4.9597E-5 40325 0 6.43583E-5
11-46332723-C-G p.Leu246Val missense CREB3L1 4 80690 4.95724E-5 40345 0 1.03806E-4
11-46332740-C-T p.His251His splice_region+synonymous CREB3L1 32 80058 3.9971E-4 40029 0 0.00209263
11-46333869-C-T c.754-7C>T splice_region CREB3L1 1 81132 1.23256E-5 40566 0 NA
11-46333884-G-A p.Gln254Gln synonymous CREB3L1 24 81924 2.92954E-4 40962 0 3.31502E-4
11-46333911-A-G p.Thr263Thr synonymous CREB3L1 2 82498 2.4243E-5 41249 0 NA
11-46333914-G-A p.Glu264Glu synonymous CREB3L1 1 82502 1.21209E-5 41251 0 NA
11-46333921-A-G p.Lys267Glu missense CREB3L1 1 82528 1.21171E-5 41264 0 NA
11-46333924-C-T p.Arg268Trp missense CREB3L1 1 82530 1.21168E-5 41265 0 4.03766E-6
11-46333925-G-A p.Arg268Gln missense CREB3L1 2 82538 2.42313E-5 41269 0 6.37674E-5
11-46333958-C-T p.Thr279Ile missense CREB3L1 1 82572 1.21106E-5 41286 0 NA
11-46333983-G-C p.Glu287Asp missense CREB3L1 1 82560 1.21124E-5 41280 0 NA
11-46334005-C-T p.Arg295Trp missense CREB3L1 1 82498 1.21215E-5 41249 0 3.18695E-5
11-46334019-G-A p.Lys299Lys synonymous CREB3L1 1 82494 1.21221E-5 41247 0 4.02933E-6
11-46334025-G-A p.Lys301Lys splice_region+synonymous CREB3L1 1 82478 1.21244E-5 41239 0 8.45666E-6
11-46334158-TC-AT c.904-5_904-4delTCinsAT splice_region CREB3L1 2 82622 2.42066E-5 41311 0 NA
11-46334175-G-T p.Glu306* stop_gained CREB3L1 1 82642 1.21004E-5 41321 0 NA
11-46334177-G-A p.Glu306Glu synonymous CREB3L1 8 82642 9.68031E-5 41321 0 2.54826E-4
11-46334183-T-G p.Arg308Arg synonymous CREB3L1 3 82640 3.6302E-5 41320 0 NA
11-46334185-G-A p.Arg309His missense CREB3L1 1 82646 1.20998E-5 41323 0 3.18634E-5
11-46334208-T-C p.Cys317Arg missense CREB3L1 1 82604 1.2106E-5 41302 0 NA
11-46334216-A-G p.Glu319Glu synonymous CREB3L1 102 82560 0.00123547 41280 0 0.00328214
11-46334219-G-C p.Lys320Asn missense+splice_region CREB3L1 1 82540 1.21153E-5 41270 0 NA
11-46334226-G-A c.962+5G>A splice_region CREB3L1 1 82524 1.21177E-5 41262 0 4.26098E-6
11-46334227-G-A c.962+6G>A splice_region CREB3L1 1 82520 1.21183E-5 41260 0 3.60993E-5
11-46334396-C-T c.963-6C>T splice_region CREB3L1 2 82422 2.42654E-5 41211 0 2.44666E-5
11-46334411-A-G p.Thr324Thr synonymous CREB3L1 1 82454 1.2128E-5 41227 0 NA
11-46334417-A-G p.Thr326Thr synonymous CREB3L1 1 82468 1.21259E-5 41234 0 4.64291E-6
11-46334428-A-G p.Asn330Ser missense CREB3L1 1 82464 1.21265E-5 41232 0 2.29716E-5
11-46334429-T-C p.Asn330Asn synonymous CREB3L1 2 82462 2.42536E-5 41231 0 4.62167E-5
11-46334464-C-T p.Ala342Val missense CREB3L1 1 82434 1.21309E-5 41217 0 2.5457E-5
11-46334470-G-T p.Arg344Met missense+splice_region CREB3L1 2 82430 2.4263E-5 41215 0 1.57978E-4
11-46336717-C-G c.312-5C>G splice_region CREB3L1 1 5174 1.93274E-4 2587 0 NA
11-46337846-C-T p.Leu347Leu synonymous CREB3L1 2 81976 2.43974E-5 40988 0 NA
11-46337881-A-T p.Asn359Ile missense CREB3L1 1 82230 1.2161E-5 41115 0 3.18715E-5
11-46337888-C-A p.Ile361Ile synonymous CREB3L1 3 82236 3.64804E-5 41118 0 NA
11-46337904-A-G p.Met367Val missense CREB3L1 1 82170 1.21699E-5 41085 0 NA
11-46337910-G-A p.Ala369Thr missense CREB3L1 8 82086 9.74588E-5 41043 0 3.6062E-4
11-46337914-C-T p.Thr370Ile missense CREB3L1 1 82126 1.21764E-5 41063 0 6.25E-4
11-46337915-C-G p.Thr370Thr synonymous CREB3L1 5 82128 6.08806E-5 41064 0 4.93167E-5
11-46337920-C-T p.Thr372Ile missense CREB3L1 2 82078 2.43671E-5 41039 0 1.11741E-5
11-46337922-G-A p.Gly373Arg missense CREB3L1 119 82080 0.00144981 41040 0 0.0037915
11-46337934-A-G p.Met377Val missense+splice_region CREB3L1 3 82012 3.658E-5 41006 0 1.16477E-5
11-46337939-A-G c.1131+3A>G splice_region CREB3L1 6 81944 7.32207E-5 40972 0 4.75913E-5
11-46338913-T-C p.Val378Ala missense+splice_region CREB3L1 1 82226 1.21616E-5 41113 0 8.30041E-6
11-46338914-G-A p.Val378Val splice_region+synonymous CREB3L1 5 82234 6.08021E-5 41117 0 9.95966E-5
11-46338920-C-G p.Ala380Ala synonymous CREB3L1 1 82284 1.2153E-5 41142 0 NA
11-46338930-G-T p.Val384Phe missense CREB3L1 2 82340 2.42895E-5 41170 0 5.03525E-4
11-46338941-G-A p.Leu387Leu synonymous CREB3L1 7 82322 8.50319E-5 41161 0 6.37186E-5
11-46338950-C-G p.Leu390Leu synonymous CREB3L1 1 82320 1.21477E-5 41160 0 6.37064E-5
11-46338951-G-A p.Val391Met missense CREB3L1 8 82324 9.7177E-5 41162 0 1.91253E-4
11-46338957-T-C p.Cys393Arg missense CREB3L1 2 82346 2.42878E-5 41173 0 4.01361E-6
11-46338965-C-T p.Pro395Pro synonymous CREB3L1 45 82316 5.46674E-4 41158 1 7.14345E-4
11-46338966-G-A p.Glu396Lys missense CREB3L1 1 82316 1.21483E-5 41158 0 4.98446E-5
11-46338967-A-G p.Glu396Gly missense CREB3L1 3 82308 3.64485E-5 41154 0 NA
11-46338974-C-T p.Ser398Ser synonymous CREB3L1 146 82286 0.0017743 41143 0 0.00187982
11-46338977-C-T p.Ser399Ser synonymous CREB3L1 1462 82250 0.0177751 41125 73 0.0368045
11-46338978-G-A p.Gly400Ser missense CREB3L1 2 82264 2.4312E-5 41132 0 3.18817E-5
11-46338985-A-G p.Gln402Arg missense CREB3L1 1 82250 1.21581E-5 41125 0 8.31698E-6
11-46338996-G-A p.Glu406Lys missense CREB3L1 1 82188 1.21672E-5 41094 0 8.32709E-6
11-46339000-A-T p.Asp407Val missense CREB3L1 1 82128 1.21761E-5 41064 0 NA
11-46339004-C-T p.Pro408Pro synonymous CREB3L1 3 82112 3.65355E-5 41056 0 9.55962E-5
11-46339010-C-T p.Ala410Ala synonymous CREB3L1 1 82030 1.21907E-5 41015 0 4.08137E-4
11-46339011-G-A p.Ala411Thr missense CREB3L1 5584 81832 0.0682374 40916 211 0.112641
11-46339016-C-T p.Asp412Asp synonymous CREB3L1 1 81974 1.2199E-5 40987 0 3.34907E-5
11-46339019-C-T p.Gly413Gly synonymous CREB3L1 1 81888 1.22118E-5 40944 0 6.37105E-5
11-46339019-C-G p.Gly413Gly synonymous CREB3L1 1 81888 1.22118E-5 40944 0 NA
11-46339020-G-A p.Val414Ile missense CREB3L1 5 81862 6.10784E-5 40931 0 4.46559E-5
11-46339027-C-T p.Thr416Met missense CREB3L1 3 81696 3.67215E-5 40848 0 5.30032E-5
11-46339028-G-A p.Thr416Thr synonymous CREB3L1 3 81710 3.67152E-5 40855 0 4.07634E-6
11-46339028-G-T p.Thr416Thr synonymous CREB3L1 1 81710 1.22384E-5 40855 0 NA
11-46339037-G-A p.Gln419Gln splice_region+synonymous CREB3L1 1 81632 1.22501E-5 40816 0 1.68925E-5
11-46339045-G-A c.1258+7G>A splice_region CREB3L1 1 81272 1.23044E-5 40636 0 4.12055E-6
11-46341819-C-T p.Pro421Pro synonymous CREB3L1 1 80450 1.24301E-5 40225 0 6.25E-4
11-46341840-C-T p.Tyr428Tyr synonymous CREB3L1 2 80596 2.48151E-5 40298 0 9.34807E-6
11-46341846-C-T p.Asp430Asp synonymous CREB3L1 4 80594 4.96315E-5 40297 0 1.27551E-4
11-46341847-G-A p.Gly431Arg missense CREB3L1 1 80626 1.24029E-5 40313 0 1.84836E-5
11-46341851-C-T p.Ala432Val missense CREB3L1 1 80572 1.24113E-5 40286 0 NA
11-46341872-G-A p.Arg439His missense CREB3L1 5 80726 6.19379E-5 40363 0 8.46963E-5
11-46341878-C-T p.Thr441Ile missense CREB3L1 3 80920 3.70737E-5 40460 0 NA
11-46341879-CCTG-C p.Leu443del disruptive_inframe_deletion CREB3L1 1 80952 1.2353E-5 40476 0 NA
11-46341881-T-G p.Leu442Arg missense CREB3L1 44 81036 5.42969E-4 40518 0 0.00183404
11-46341884-T-A p.Leu443Gln missense CREB3L1 1 81184 1.23177E-5 40592 0 NA
11-46341889-A-G p.Met445Val missense CREB3L1 87 81338 0.00106961 40669 2 0.00258307
11-46341890-T-C p.Met445Thr missense CREB3L1 4 81376 4.91545E-5 40688 0 4.81075E-5
11-46341893-A-G p.Glu446Gly missense CREB3L1 2 81426 2.45622E-5 40713 0 NA
11-46341898-C-G p.Pro448Ala missense CREB3L1 2 81508 2.45375E-5 40754 0 4.11083E-6
11-46341900-A-G p.Pro448Pro synonymous CREB3L1 1 81612 1.22531E-5 40806 0 NA
11-46341921-C-CG p.Pro458fs frameshift CREB3L1 1 81868 1.22148E-5 40934 0 2.09846E-5
11-46341921-C-CGGG p.Gly457dup conservative_inframe_insertion CREB3L1 1 81882 1.22127E-5 40941 0 NA
11-46341922-G-T p.Gly456Trp missense CREB3L1 1 81850 1.22175E-5 40925 0 4.19629E-6
11-46341922-G-A p.Gly456Arg missense CREB3L1 4 81850 4.88699E-5 40925 0 2.51777E-5
11-46341924-G-A p.Gly456Gly synonymous CREB3L1 1 81790 1.22264E-5 40895 0 4.17903E-6
11-46341927-G-A p.Gly457Gly synonymous CREB3L1 2 81716 2.4475E-5 40858 0 1.04727E-5
11-46341929-C-T p.Pro458Leu missense CREB3L1 1 81726 1.2236E-5 40863 0 8.35827E-6
11-46341930-G-A p.Pro458Pro synonymous CREB3L1 1 81732 1.22351E-5 40866 0 2.10624E-5
11-46341941-G-A p.Arg462Gln missense CREB3L1 1 81840 1.2219E-5 40920 0 3.19285E-5
11-46341944-C-T p.Pro463Leu missense CREB3L1 5 81888 6.1059E-5 40944 0 5.03525E-4
11-46341946-C-T p.Arg464Trp missense CREB3L1 5 81932 6.10262E-5 40966 0 1.59962E-4
11-46341947-G-A p.Arg464Gln missense CREB3L1 6 81894 7.32654E-5 40947 0 6.38203E-5
11-46341948-G-A p.Arg464Arg synonymous CREB3L1 1 81918 1.22073E-5 40959 0 NA
11-46341950-A-G p.Asp465Gly missense CREB3L1 1 81898 1.22103E-5 40949 0 NA
11-46341956-T-G p.Leu467Arg missense CREB3L1 1 82014 1.2193E-5 41007 0 NA
11-46341961-C-G p.His469Asp missense CREB3L1 1 82014 1.2193E-5 41007 0 NA
11-46341982-C-T p.His476Tyr missense CREB3L1 13 82050 1.5844E-4 41025 0 9.57243E-5
11-46341984-C-T p.His476His synonymous CREB3L1 4 82002 4.87793E-5 41001 0 6.38121E-5
11-46341985-G-A p.Glu477Lys missense CREB3L1 4 81954 4.88079E-5 40977 0 8.69076E-5
11-46341989-C-T p.Thr478Ile missense CREB3L1 1 81952 1.22023E-5 40976 0 4.15424E-6
11-46342002-G-A p.Leu482Leu synonymous CREB3L1 2 81862 2.44314E-5 40931 0 4.84367E-5
11-46342005-T-C p.Ser483Ser synonymous CREB3L1 1 81848 1.22178E-5 40924 0 NA
11-46342008-G-C p.Glu484Asp missense CREB3L1 13 81846 1.58835E-4 40923 0 7.47086E-5
11-46342011-C-T p.Ala485Ala synonymous CREB3L1 1 81818 1.22222E-5 40909 0 NA
11-46342016-C-G p.Pro487Arg missense CREB3L1 1 81764 1.22303E-5 40882 0 NA
11-46342024-G-A p.Gly490Ser missense CREB3L1 3 81678 3.67296E-5 40839 0 5.52608E-5
11-46342025-G-C p.Gly490Ala missense CREB3L1 1 81674 1.22438E-5 40837 0 1.80574E-5
11-46342029-A-G p.Gly491Gly synonymous CREB3L1 2 81676 2.4487E-5 40838 0 4.25943E-5
11-46342032-C-T p.Asn492Asn synonymous CREB3L1 6 81596 7.3533E-5 40798 0 0.0015121
11-46342033-G-A p.Gly493Ser missense CREB3L1 6 81564 7.35619E-5 40782 0 9.58466E-5
11-46342042-C-T p.Pro496Ser missense CREB3L1 1 81534 1.22648E-5 40767 0 NA
11-46342045-G-A p.Asp497Asn missense CREB3L1 4 81508 4.90749E-5 40754 0 4.5939E-5
11-46342057-T-C p.Ser501Pro missense CREB3L1 1 81500 1.22699E-5 40750 0 NA
11-46342060-A-C p.Lys502Gln missense CREB3L1 5 81556 6.13076E-5 40778 0 5.04541E-4
11-46342062-G-A p.Lys502Lys synonymous CREB3L1 4 81552 4.90485E-5 40776 0 9.25069E-5
11-46342065-G-T p.Glu503Asp missense CREB3L1 2 81508 2.45375E-5 40754 0 6.16219E-5
11-46342068-G-T p.Trp504Cys missense CREB3L1 4 81562 4.90424E-5 40781 0 3.24507E-5
11-46342069-T-A p.Phe505Ile missense CREB3L1 2 81580 2.45158E-5 40790 0 3.66059E-5
11-46342075-G-A p.Asp507Asn missense CREB3L1 8 81470 9.81957E-5 40735 0 0.166667
11-46342075-G-T p.Asp507Tyr missense CREB3L1 1 81470 1.22745E-5 40735 0 0.166667
11-46342077-C-T p.Asp507Asp splice_region+synonymous CREB3L1 1 81496 1.22705E-5 40748 0 NA
11-46342081-TG-T c.1524+2delG splice_donor CREB3L1 81352 81360 0.999902 40680 40675 1.0
11-46342083-G-GGTGTGTGGCCCCTTT c.1524+3_1524+4insGTGTGTGGCCCCTTT splice_region CREB3L1 1 81460 1.2276E-5 40730 0 0.5
11-46342257-C-T c.1525-4C>T splice_region CREB3L1 13 82374 1.57817E-4 41187 0 0.25
11-46342259-A-AG p.Asp509fs frameshift CREB3L1 82296 82308 0.999854 41154 41148 1.0
11-46342266-G-A p.Leu510Leu synonymous CREB3L1 1 82434 1.21309E-5 41217 0 3.19611E-5
11-46342268-G-C p.Gly511Ala missense CREB3L1 1 82434 1.21309E-5 41217 0 4.07282E-6
11-46342277-C-A p.Thr514Asn missense CREB3L1 19 82442 2.30465E-4 41221 0 4.75993E-4
11-46342282-A-G p.Ile516Val missense CREB3L1 1 82436 1.21306E-5 41218 0 NA
11-46342283-T-G p.Ile516Ser missense CREB3L1 1066 82410 0.0129353 41205 35 0.0252061
11-46342287-A-G p.Lys517Lys synonymous CREB3L1 1 82438 1.21303E-5 41219 0 1.96194E-4
11-46342293-C-G p.Ser519Ser synonymous CREB3L1 1 82448 1.21289E-5 41224 0 1.00118E-5
11-46342942-CA-C n.1817delA splice_region CREB3L1 1572 38864 0.0404487 19432 3 0.0354689
11-46342942-CAAA-C n.1815_1817delAAA splice_region CREB3L1 65 42650 0.00152403 21325 0 2.64299E-4
11-46342942-CAA-C n.1816_1817delAA splice_region CREB3L1 293 41802 0.00700923 20901 0 0.00195581
11-46342942-CAAAA-C n.1814_1817delAAAA splice_region CREB3L1 9 42896 2.0981E-4 21448 0 NA
11-46342942-CAAAAA-C n.1813_1817delAAAAA splice_region CREB3L1 2 42932 4.65853E-5 21466 0 NA
11-46342959-A-C n.1817A>C splice_region CREB3L1 1 42092 2.37575E-5 21046 0 NA



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