Research Article
The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma
Table 4
Descriptive features and functional effects of TP53 mutated in ESCC patients.
| | No | Patient ID | Number of mutations | Mutations | Mutation type | exon | Mutation annotation (cDNA) | TP53 mutation (protein) | TA class | Align GVGD | p53 IHC (positive/negative) | p53 IHC (low/high) | Survival status | Survival time (years) |
| | 2 | CE18T | 1 | 7577509C > A | Nonsense | exon7 | c.G772T | p.E258X | — | — | Negative | Low | Dead | 4.73 | | 4 | CE4T | 1 | 7578212G > A | Nonsense | exon6 | c.C637T | p.R213X | — | — | Negative | Low | Dead | 3.95 | | 5 | CE7T | 1 | 7579528C > T | Nonsense | exon4 | c.G159A | p.W53X | — | — | Positive | Low | Dead | 5.00 | | 6 | CE15T | 1 | 7578461C > A | Missense | exon5 | c.G469T | p.V157F | Not-functional | C0 | Positive | Low | Dead | 5.81 | | 8 | CE20T | 1 | 7578413C > T | Missense | exon5 | c.G517A | p.V173M | Not-functional | C15 | Positive | Low | Dead | 4.07 | | 9 | CE26T | 2 | 7577556C > A | Missense | exon7 | c.G725T | p.C242F | Not-functional | C65 | Positive | High | Dead | 6.16 | | 7578406C > T | Missense | exon5 | c.G524A | p.R175H | Not-functional | C25 | | 10 | CE5T | 1 | 7577105G > A | Missense | exon8 | c.C833T | p.P278L | Not-functional | C65 | Positive | Low | Dead | 5.11 | | 12 | CE24T | 1 | 7577539G > A | Missense | exon7 | c.C742T | p.R248W | Not-functional | C65 | Positive | High | Alive | 11.04 | | 13 | CE21T | 2 | 7577603G > C | Silent | exon7 | c.C678G | p.G226G | — | — | Negative | Low | Dead | 6.50 | | 7577610T > A | Splice_site | exon8 | c.673-2A > T | — | — | — | | 14 | CE27T | 1 | 7578406C > T | Missense | exon5 | c.G524A | p.R175H | Not-functional | C25 | Positive | High | Dead | 2.41 | | 16 | EC889T | 1 | 7577156C > A | Splice_site | exon9 | c.783-1G > T | — | — | — | Positive | High | Dead | 0.79 | | 18 | EC892T | 1 | 7579529C > T | Nonsense | exon4 | c.G158A | p.W53X | — | — | Positive | High | Dead | 3.15 | | 19 | EC893T | 1 | 7578406C > T | Missense | exon5 | c.G524A | p.R175H | Not-functional | C25 | Positive | High | Alive | 4.71 | | 20 | EC1038T | 1 | 7579414C > T | Nonsense | exon4 | c.G273A | p.W91X | — | — | Positive | Low | Dead | 1.49 | | 22 | EC1032T | 1 | 7578403C > A | Missense | exon5 | c.G527T | p.C176F | Partially functional | C65 | Positive | High | Dead | 2.27 | | 23 | EC632T | 1 | 7577085C > T | Missense | exon8 | c.G853A | p.E285K | Not-functional | C55 | Positive | High | Alive | 4.78 | | 24 | EC636T | 1 | 7579691TGTCCTTACCA > T | Frame_Shift_Del | exon3 | c.95_96del | p.L32fs | — | — | Negative | Low | Alive | 4.77 | | 25 | EC090T | 1 | 7578268A > C | Missense | exon6 | c.T581G | p.L194R | Not-functional | C65 | Positive | High | Alive | 1.41 | | 26 | EC633T | 1 | 7577022G > A | Nonsense | exon8 | c.C916T | p.R306X | — | — | Positive | Low | Alive | 4.80 | | 27 | EC640T | 1 | 7579539T > TG | Frame_Shift_Ins | exon4 | c.147_148insC | p.I50fs | — | — | Negative | Low | Alive | 4.81 | | 28 | EC643T | 1 | 7578235T > C | Missense | exon6 | c.A614G | p.Y205C | Not-functional | C65 | Positive | Low | Dead | 2.54 | | 29 | EC644T | 1 | 7579310A > G | Splice_site | exon5 | c.375+2T > C | — | — | — | Negative | Low | Dead | 2.33 | | 30 | EC641T | 1 | 7578188C > A | Nonsense | exon6 | c.G661T | p.E221X | — | — | Negative | Low | Alive | 4.84 | | 31 | EC967T | 2 | 7576897G > A | Nonsense | exon9 | c.C949T | p.Q317X | — | — | Negative | Low | Alive | 4.84 | | 7579494T > A | Nonsense | exon4 | c.A193T | p.R65X | — | — | | 32 | EC968T | 1 | 7577511A > C | Missense | exon7 | c.T770G | p.L257R | Not-functional | C65 | Positive | Low | Alive | 4.85 | | 33 | EC966T | 2 | 7574029C > T | Missense | exon10 | c.G998A | p.R333H | Functional | C0 | Positive | High | Dead | 2.37 | | 7577580T > C | Missense | exon7 | c.A701G | p.Y234C | Not-functional | C45 | | 34 | EC965T | 1 | 7578478G > C | Missense | exon5 | c.C452G | p.P151R | Not-functional | C65 | Positive | High | Dead | 0.95 | | 35 | EC1024T | 1 | 7578395G > A | Missense | exon5 | c.C535T | p.H179Y | Partially functional | C65 | Positive | Low | Dead | 4.03 | | 36 | EC190T | 2 | 7578520A > T | Missense | exon5 | c.T410A | p.L137Q | Functional | C65 | Positive | Low | Alive | 10.80 | | 7579313G > A | Missense | exon4 | c.C374T | p.T125M | Not-functional | C65 | | 37 | EC969T | 1 | 7577539G > A | Missense | exon7 | c.C742T | p.R248W | Not-functional | C65 | Positive | High | Alive | 4.88 | | 39 | EC971T | 1 | 7579311C > T | Splice_Site | exon5 | c.375+1G > A | — | — | — | Negative | Low | Alive | 5.21 | | 40 | EC973T | 1 | 7579415C > T | Nonsense | exon4 | c.G272A | p.W91X | — | — | Negative | Low | Dead | 0.88 | | 41 | EC975T | 1 | 7577058C > A | Nonsense | exon8 | c.G880T | p.E294X | — | — | Positive | Low | Alive | 4.88 | | 42 | EC976T | 1 | 7577575A > G | Missense | exon7 | c.T706C | p.Y236H | Not-functional | C35 | Positive | Low | Dead | 1.89 | | 43 | EC978T | 1 | 7579722C > T | Splice_Site | exon4 | c.75-1G > A | — | — | — | Negative | Low | Alive | 5.26 | | 44 | EC981T | 1 | 7578370C > T | Splice_Site | exon6 | c.559+1G > A | — | — | — | Negative | Low | Alive | 4.90 | | 45 | EC982T | 1 | 7577105G > C | Missense | exon8 | c.C833G | p.P278R | Not-functional | C65 | Positive | Low | Alive | 4.90 | | 46 | EC983T | 1 | 7574003G > A | Nonsense | exon10 | c.C1024T | p.R342X | — | — | Negative | Low | Alive | 3.95 | | 47 | EC191T | 1 | 7578412A > G | Missense | exon5 | c.T518C | p.V173A | Partially functional | C55 | Positive | Low | Dead | 4.18 | | 48 | EC984T | 1 | 7578466G > T | Missense | exon5 | c.C464A | p.T155N | Not-functional | C0 | Positive | Low | Dead | 1.36 | | 49 | EC985T | 1 | 7577511A > G | Missense | exon7 | c.T770C | p.L257P | Not-functional | C65 | Negative | Low | Alive | 5.30 | | 50 | EC986T | 1 | 7578275G > A | Nonsense | exon6 | c.C574T | p.Q192X | — | — | Negative | Low | Dead | 3.24 | | 51 | EC987T | 1 | 7577018C > T | Splice_Site | exon9 | c.919+1G > A | — | — | — | Positive | Low | Alive | 4.94 | | 52 | EC990T | 1 | 7577539G > A | Missense | exon7 | c.C742T | p.R248W | Not-functional | C65 | Negative | Low | Dead | 1.64 | | 53 | EC991T | 1 | 7577503AGTCTTCCAGT > A | Frame_Shift_Del | exon7 | c.768_777del | p.T256fs | — | — | Positive | Low | Dead | 2.42 | | 55 | EC992T | 1 | 7577094G > A | Missense | exon8 | c.C844T | p.R282W | Not-functional | C65 | Positive | Low | Alive | 4.96 | | 56 | EC994T | 1 | 7578394T > C | Missense | exon5 | c.A536G | p.H179R | Not-functional | C25 | Positive | Low | Alive | 2.81 | | 58 | EC088T | 1 | 7578469CCGGG > C | Frame_Shift_Del | exon5 | c.457_460del | p.P153fs | — | — | Negative | Low | Dead | 6.07 | | 59 | EC996T | 1 | 7578403C > A | Missense | exon5 | c.G527T | p.C176F | Partially functional | C65 | Positive | High | Alive | 4.98 | | 60 | EC630T | 1 | 7577153C > A | Missense | exon8 | c.G785T | p.G262V | Not-functional | C65 | Positive | High | Dead | 2.79 | | 61 | EC997T | 1 | 7578406C > T | Missense | exon5 | c.G524A | p.R175H | Not-functional | C25 | Positive | Low | Alive | 4.98 | | 62 | EC629T | 1 | 7577156C > T | Splice_Site | exon9 | c.783-1G > A | — | — | — | Positive | Low | Dead | 2.43 | | 63 | EC1006T | 2 | 7577106G > T | Missense | exon8 | c.C832A | p.P278T | Not-functional | C35 | Positive | High | Alive | 5.04 | | 7578475G > A | Missense | exon5 | c.C455T | p.P152L | Not-functional | C65 | | 64 | EC885T | 2 | 7577548C > T | Missense | exon7 | c.G733A | p.G245S | Not-functional | C55 | Positive | Low | Dead | 4.01 | | 7576888T > A | Nonsense | exon9 | c.A958T | p.K320X | — | — | | 65 | EC1005T | 1 | 7578536T > C | Missense | exon5 | c.A394G | p.K132E | Not-functional | C55 | Positive | Low | Dead | 2.92 | | 67 | G008_T | 1 | 7578406C > T | Missense | exon5 | c.G524A | p.R175H | Not-functional | C25 | Positive | High | Dead | 2.53 | | 68 | NR131225_2T | 1 | 7578290C > T | Splice_Site | exon7 | c.560-1G > A | — | — | — | Negative | Low | Alive | 5.29 | | 69 | EC080T | 1 | 7577143CAGT > C | non_Frame_Del | exon8 | c.792_794del | p.264_265del | — | — | Positive | Low | Dead | 2.70 | | 70 | NR131225_3T | 1 | 7577082C > T | Missense | exon8 | c.G856A | p.E286K | Not-functional | C55 | Positive | High | Alive | 5.32 | | 71 | NR131225_5T | 1 | 7576870C > A | Nonsense | exon9 | c.G976T | p.E326X | — | — | Negative | Low | Dead | 0.93 | | 72 | NR131225_9T | 1 | 7578239C > A | Nonsense | exon6 | c.G610T | p.E204X | — | — | Negative | Low | Alive | 5.67 | | 73 | NR131225_4T | 1 | 7577120C > T | Missense | exon8 | c.G818A | p.R273H | Not-functional | C25 | Positive | Low | Dead | 3.61 | | 75 | NR131225_1T | 1 | 7578403C > A | Missense | exon5 | c.G527T | p.C176F | Partially functional | C65 | Positive | High | Dead | 3.70 | | 77 | NR131225_6T | 1 | 7577120C > A | Missense | exon8 | c.G818T | p.R273L | Not-functional | C65 | Positive | High | Dead | 2.83 | | 78 | NR131121_10T | 1 | 7577565T > C | Missense | exon7 | c.A716G | p.N239S | Not-functional | C45 | Positive | High | Dead | 0.66 | | 79 | NR131121_9T | 1 | 7577538C > T | Missense | exon7 | c.G743A | p.R248Q | Not-functional | C35 | Positive | High | Dead | 1.00 | | 81 | NR131121_8T | 1 | 7577120C > T | Missense | exon8 | c.G818A | p.R273H | Not-functional | C25 | Positive | Low | Dead | 4.00 | | 82 | NR131121_7T | 1 | 7579355A > T | Missense | exon4 | c.T332A | p.L111Q | Not-functional | C65 | Positive | Low | Dead | 5.27 | | 83 | NR131121_6T | 1 | 7577142C > G | Missense | exon8 | c.G796C | p.G266R | Not-functional | C65 | Positive | High | Dead | 1.01 | | 84 | NR131121_5T | 1 | 7577575A > C | Missense | exon7 | c.T706G | p.Y236D | Not-functional | C55 | Positive | Low | Alive | 4.80 | | 85 | NR131121_4T | 1 | 7577117A > C | Missense | exon8 | c.T821G | p.V274G | Not-functional | C65 | Positive | High | Dead | 0.58 | | 86 | NR131121_3T | 1 | 7577046C > A | Nonsense | exon8 | c.G892T | p.E298X | — | — | Positive | Low | Alive | 5.57 | | 87 | NR131121_2T | 2 | 7578446T > A | Missense | exon5 | c.A484T | p.I162F | Not-functional | C0 | Positive | High | Dead | 4.49 | | 7578484G > T | Missense | exon5 | c.C446A | p.S149Y | Functional | C0 | | 88 | NR131121_1T | 1 | 7577586A > T | Missense | exon7 | c.T695A | p.I232N | Not-functional | C35 | Positive | High | Dead | 2.03 | | 89 | TW2352AF | 1 | 7578208T > C | Missense | exon6 | c.A641G | p.H214R | Not-functional | C0 | Positive | Low | Alive | 7.87 | | 90 | TW2351BF | 1 | 7577085C > T | Missense | exon8 | c.G853A | p.E285K | Not-functional | C55 | Positive | High | Alive | 8.28 | | 91 | EC062T | 1 | 7578392C > A | Nonsense | exon5 | c.G538T | p.E180X | — | — | Positive | Low | Dead | 6.49 | | 92 | EC129T | 1 | 7578212G > A | Nonsense | exon6 | c.C637T | p.R213X | — | — | Negative | Low | Alive | 10.30 | | 93 | EC127T | 1 | 7578239C > A | Nonsense | exon6 | c.G610T | p.E204X | — | — | Negative | Low | Dead | 8.45 | | 94 | MC16T | 1 | 7577609C > T | Splice_Site | exon8 | c.673-1G > A | — | — | — | Negative | Low | Dead | 7.80 | | 95 | MC17T | 2 | 7578469C > A | Missense | exon5 | c.G461T | p.G154V | Not-functional | C65 | Positive | Low | Dead | 6.87 | | 7579312C > T | Silent | exon4 | c.G375A | p.T125T | — | — | | 96 | MC13T | 1 | 7577090C > G | Missense | exon8 | c.G848C | p.R283P | Not-functional | C35 | Positive | High | Dead | 4.25 | | 97 | MC7T | 2 | 7577106G > A | Missense | exon8 | c.C832T | p.P278S | Not-functional | C65 | Positive | High | Dead | 0.75 | | 7577538C > G | Missense | exon7 | c.G743C | p.R248P | Not-functional | C65 | | 98 | TW258AF | 1 | 7578406C > T | Missense | exon5 | c.G524A | p.R175H | Not-functional | C25 | Positive | High | Dead | 0.60 | | 99 | FE0008T | 1 | 7577094G > A | Missense | exon8 | c.C844T | p.R282W | Not-functional | C65 | Positive | High | Dead | 0.83 | | 100 | EC123T | 1 | 7573991C > A | Nonsense | exon10 | c.G1036T | p.E346X | — | — | Positive | Low | Dead | 4.06 | | 101 | G556T | 1 | 7579419AG > A | Frame_Shift_Del | exon4 | c.267delC | p.P89fs | — | — | Positive | Low | Alive | 2.65 | | 102 | G406T | 1 | 7577118C > A | Missense | exon8 | c.G820T | p.V274F | Not-functional | C45 | Positive | High | Dead | 0.46 | | 103 | FG0067T | 2 | 7578449C > T | Missense | exon5 | c.G481A | p.A161T | Partially functional | C55 | Positive | High | Alive | 1.10 | | 7579362A > C | Missense | exon4 | c.T325G | p.F109V | Not-functional | C0 | | 105 | G414T | 1 | 7578524G > A | Nonsense | exon5 | c.C406T | p.Q136X | — | — | Negative | Low | Alive | 3.11 | | 106 | EC727T | 1 | 7577121G > A | Missense | exon8 | c.C817T | p.R273C | Not-functional | C65 | Positive | High | Alive | 3.14 | | 107 | EC720T | 1 | 7578275G > A | Nonsense | exon6 | c.C574T | p.Q192X | — | — | Negative | Low | Dead | 1.16 | | 109 | EC721T | 1 | 7578203C > T | Missense | exon6 | c.G646A | p.V216M | Not-functional | C15 | Positive | High | Dead | 0.48 | | 110 | EC943T | 1 | 7578206T > C | Missense | exon6 | c.A643G | p.S215G | Not-functional | C0 | Positive | High | Alive | 3.79 | | 111 | EC121T | 1 | 7578271T > G | Missense | exon6 | c.A578C | p.H193P | Not-functional | C65 | Positive | High | Dead | 1.00 | | 112 | EC854T | 2 | 7577124C > A | Missense | exon8 | c.G814T | p.V272L | Not-functional | C25 | Positive | High | Alive | 3.44 | | 7578290C > G | Splice_Site | exon7 | c.560-1G > C | — | — | — | | 113 | EC868T | 1 | 7577120C > T | Missense | exon8 | c.G818A | p.R273H | Not-functional | C25 | Positive | Low | Alive | 3.44 | | 114 | EC686T | 2 | 7577124C > A | Missense | exon8 | c.G814T | p.V272L | Not-functional | C25 | Positive | Low | Alive | 3.43 | | 7578275G > A | Nonsense | exon6 | c.C574T | p.Q192X | — | — | | 118 | EC883T | 2 | 7577539G > A | Missense | exon7 | c.C742T | p.R248W | Not-functional | C65 | Positive | High | Alive | 3.49 | | 7578192G > GGGCACCACCACACTATGTC | Frame_Shift_Ins | exon6 | c.656_657insGACATAGTGTGGTGGTGCC | p.P219_Y220delinsPTX | — | — | | 119 | EC881T | 1 | 7577153C > A | Missense | exon8 | c.G785T | p.G262V | Not-functional | C65 | Positive | High | Dead | 1.24 | | 120 | EC877T | 1 | 7578413C > A | Missense | exon5 | c.G517T | p.V173L | Not-functional | C25 | Positive | High | Alive | 3.51 | | 121 | EC880T | 1 | 7578443A > G | Missense | exon5 | c.T487C | p.Y163H | Not-functional | C65 | Positive | High | Alive | 3.47 | | 122 | EC122T | 1 | 7579485C > A | Nonsense | exon4 | c.G202T | p.E68X | — | — | Negative | Low | Alive | 11.47 | | 124 | EC871T | 1 | 7577094G > A | Missense | exon8 | c.C844T | p.R282W | Not-functional | C65 | Positive | High | Alive | 3.51 | | 125 | EC874T | 1 | 7578211CGA > C | Frame_Shift_Del | exon6 | c.636_637del | p.F212fs | — | — | Negative | Low | Alive | 3.53 | | 128 | EC872T | 1 | 7577094G > A | Missense | exon8 | c.C844T | p.R282W | Not-functional | C65 | Positive | High | Dead | 0.89 | | 129 | EC875T | 1 | 7574003G > A | Nonsense | exon10 | c.C1024T | p.R342X | — | — | Positive | Low | Dead | 1.99 | | 130 | EC869T | 1 | 7577106G > A | Missense | exon8 | c.C832T | p.P278S | Not-functional | C65 | Positive | High | Dead | 1.53 | | 132 | G479T | 1 | 7578263G > A | Nonsense | exon6 | c.C586T | p.R196X | — | — | Positive | Low | Dead | 0.57 | | 133 | EC124T | 1 | 7577569A > T | Missense | exon7 | c.T712A | p.C238S | Not-functional | C65 | Positive | High | Dead | 2.07 | | 134 | EC814T | 1 | 7579591C > A | Splice_Site | exon5 | c.97-1G > T | — | — | — | Negative | Low | Alive | 3.58 | | 135 | EC813T | 1 | 7578212G > A | Nonsense | exon6 | c.C637T | p.R213X | — | — | Positive | High | Alive | 3.58 | | 138 | EC822T | 1 | 7578190T > C | Missense | exon6 | c.A659G | p.Y220C | Not-functional | C65 | Positive | Low | Alive | 3.95 | | 139 | EC818T | 2 | 7577094G > A | Missense | exon8 | c.C844T | p.R282W | Not-functional | C65 | Positive | Low | Alive | 3.58 | | 7578246CAA > C | Frame_Shift_Del | exon6 | c.601_602del | p.L201fs | — | — | | 140 | EC821T | 1 | 7577538C > T | Missense | exon7 | c.G743A | p.R248Q | Not-functional | C35 | Positive | High | Alive | 3.59 | | 142 | EC832T | 1 | 7577610T > C | Splice_Site | exon8 | c.673-2A > G | — | — | — | Negative | Low | Dead | 0.25 | | 143 | EC851T | 1 | 7578212G > A | Nonsense | exon6 | c.C637T | p.R213X | — | — | Negative | Low | Alive | 3.64 | | 144 | EC120T | 1 | 7577120C > T | Missense | exon8 | c.G818A | p.R273H | Not-functional | C25 | Positive | High | Dead | 3.49 | | 145 | EC835T | 1 | 7578221TTC > T | Frame_Shift_Del | exon6 | c.626_627del | p.R209fs | — | — | Negative | Low | Dead | 1.26 | | 146 | EC834T | 1 | 7579360G > GA | Frame_Shift_Ins | exon4 | c.326dupT | p.F109fs | — | — | Negative | Low | Alive | 3.66 | | 147 | EC859T | 1 | 7577058C > A | Nonsense | exon8 | c.G880T | p.E294X | — | — | Negative | Low | Dead | 1.02 | | 149 | EC838T | 1 | 7577570C > T | Missense | exon7 | c.G711A | p.M237I | Not-functional | C0 | Positive | High | Alive | 2.67 | | 150 | EC849T | 1 | 7578394T > C | Missense | exon5 | c.A536G | p.H179R | Not-functional | C25 | Positive | High | Dead | 1.26 | | 151 | EC848T | 1 | 7578266TAAGATGCTG > T | non_Frame_Del | exon6 | c.574_582del | p.192_194del | — | — | Positive | High | Alive | 3.73 | | 152 | EC847T | 1 | 7578263G > A | Nonsense | exon6 | c.C586T | p.R196X | — | — | Negative | Low | Alive | 3.72 | | 153 | EC845T | 1 | 7578371C > T | Missense | exon5 | c.G559A | p.G187S | Functional | C0 | Negative | Low | Alive | 3.75 | | 154 | EC932T | 1 | 7579400G > GAA | Frame_Shift_Ins | exon4 | c.286_287insTT | p.S96fs | — | — | Negative | Low | Dead | 2.10 | | 155 | EC116T | 1 | 7577094G > A | Missense | exon8 | c.C844T | p.R282W | Not-functional | C65 | Positive | High | Alive | 11.53 | | 158 | EC933T | 1 | 7578440T > A | Nonsense | exon5 | c.A490T | p.K164X | — | — | Negative | Low | Dead | 3.20 | | 159 | EC941T | 1 | 7577609C > G | Splice_Site | exon8 | c.673-1G > C | — | — | — | Negative | Low | Dead | 2.57 | | 160 | EC942T | 1 | 7577149AT > A | Frame_Shift_Del | exon8 | c.788delA | p.N263fs | — | — | Negative | Low | Alive | 3.78 | | 161 | EC945T | 1 | 7577082C > T | Missense | exon8 | c.G856A | p.E286K | Not-functional | C55 | Positive | High | Alive | 3.80 | | 162 | EC944T | 1 | 7577539G > A | Missense | exon7 | c.C742T | p.R248W | Not-functional | C65 | Positive | High | Dead | 1.31 | | 165 | EC948T | 1 | 7576927C > T | Splice_Site | exon10 | c.920-1G > A | — | — | — | Negative | Low | Alive | 3.81 | | 166 | EC117T | 3 | 7577556C > A | Missense | exon7 | c.G725T | p.C242F | Not-functional | C65 | Positive | High | Dead | 1.03 | | 7577558G > A | Silent | exon7 | c.C723T | p.S241S | — | — | | 7578406C > T | Missense | exon5 | c.G524A | p.R175H | Not-functional | C25 | | 167 | EC146T | 1 | 7578395G > A | Missense | exon5 | c.C535T | p.H179Y | Partially functional | C65 | Positive | Low | Dead | 3.25 | | 168 | EC940T | 1 | 7579591C > G | Splice_Site | exon5 | c.97-1G > C | — | — | — | Negative | Low | Dead | 3.09 | | 171 | EC951T | 2 | 7577144A > C | Missense | exon8 | c.T794G | p.L265R | Not-functional | C65 | Positive | High | Alive | 3.85 | | 7578446T > TGGC | non_Frame_Ins | exon5 | c.483_484insGCC | p.I162delinsAI | — | — | | 172 | EC952T | 1 | 7579699C > T | Splice_Site | exon4 | c.96+1G > A | — | — | — | Negative | Low | Alive | 3.85 | | 173 | EC963T | 2 | 7576927C > T | Splice_Site | exon10 | c.920-1G > A | — | — | — | Negative | Low | Alive | 3.86 | | 7578212G > A | Nonsense | exon6 | c.C637T | p.R213X | — | — | | 174 | EC958T | 1 | 7579470C > CG | Frame_Shift_Ins | exon4 | c.216dupC | p.V73fs | — | — | Negative | Low | Alive | 3.86 | | 176 | EC961T | 2 | 7577121G > A | Missense | exon8 | c.C817T | p.R273C | Not-functional | C65 | Positive | High | Alive | 3.88 | | 7578263G > A | Nonsense | exon6 | c.C586T | p.R196X | — | — | | 177 | EC962T | 1 | 7574029CG > C | Frame_Shift_Del | exon10 | c.997delC | p.R333fs | — | — | Positive | Low | Alive | 4.24 | | 178 | EC118T | 1 | 7578212G > A | Nonsense | exon6 | c.C637T | p.R213X | — | — | Negative | Low | Dead | 3.05 | | 180 | EC960T | 2 | 7578242C > A | Missense | exon6 | c.G607T | p.V203L | Partially functional | C0 | Positive | High | Dead | 1.98 | | 7576865A > C | Nonsense | exon9 | c.T981G | p.Y327X | — | — | | 182 | EC955T | 1 | 7578249AT > A | Frame_Shift_Del | exon6 | c.599delA | p.N200fs | — | — | Negative | Low | Dead | 1.20 | | 184 | EC802T | 1 | 7578368CA > C | Splice_Site InDel | exon6 | c.559+2T > - | — | — | — | Negative | Low | Dead | 1.48 | | 185 | EC793T | 1 | 7577610T > G | Splice_Site | exon8 | c.673-2A > C | — | — | — | Negative | Low | Alive | 3.95 | | 186 | EC789T | 1 | 7576927C > A | Splice_Site | exon10 | c.920-1G > T | — | — | — | Negative | Low | Alive | 3.95 | | 187 | EC797T | 1 | 7578176C > T | Splice_Site | exon7 | c.672+1G > A | — | — | — | Negative | Low | Alive | 4.33 | | 188 | EC798T | 1 | 7576928T > C | Splice_Site | exon10 | c.920-2A > G | — | — | — | Negative | Low | Alive | 3.96 | | 189 | EC115T | 2 | 7577105G > A | Missense | exon8 | c.C833T | p.P278L | Not-functional | C65 | Positive | High | Dead | 1.48 | | 7578538T > A | Missense | exon5 | c.A392T | p.N131I | Not-functional | C65 | | 191 | EC792T | 1 | 7574029CG > C | Frame_Shift_Del | exon10 | c.997delC | p.R333fs | — | — | Positive | Low | Dead | 3.21 | | 192 | EC791T | 3 | 7578215A > C | Missense | exon6 | c.T634G | p.F212V | Partially functional | C0 | Positive | High | Dead | 1.25 | | 7577022G > A | Nonsense | exon8 | c.C916T | p.R306X | — | — | | 7579699C > A | Splice_Site | exon4 | c.96+1G > T | — | — | — | | 193 | EC790T | 1 | 7578419C > A | Nonsense | exon5 | c.G511T | p.E171X | — | — | Negative | Low | Dead | 1.78 | | 194 | EC794T | 2 | 7578406C > T | Missense | exon5 | c.G524A | p.R175H | Not-functional | C25 | Positive | High | Dead | 1.74 | | 7578370CCATCGCTATCTGAGCAG > C | Frame_Shift_Del | exon5 | c.543_559del | p.R181fs | — | — | | 195 | EC783T | 1 | 7577121G > C | Missense | exon8 | c.C817G | p.R273G | Not-functional | C65 | Positive | High | Alive | 3.97 | | 197 | EC795T | 1 | 7578388C > G | Missense | exon5 | c.G542C | p.R181P | Not-functional | C65 | Positive | High | Dead | 1.51 | | 198 | EC787T | 1 | 7577547C > T | Missense | exon7 | c.G734A | p.G245D | Not-functional | C65 | Positive | High | Dead | 0.84 | | 199 | G521T | 1 | 7579311C > A | Splice_Site | exon5 | c.375+1G > T | — | — | — | Negative | Low | Alive | 3.63 | | 200 | EC113T | 2 | 7577518T > A | Missense | exon7 | c.A763T | p.I255F | Not-functional | C15 | Positive | Low | Alive | 11.54 | | 7578212G > A | Nonsense | exon6 | c.C637T | p.R213X | — | — | | 201 | EC780T | 1 | 7577093CG > C | Frame_Shift_Del | exon8 | c.844delC | p.R282fs | — | — | Negative | Low | Dead | 1.96 | | 202 | EC786T | 1 | 7578271T > C | Missense | exon6 | c.A578G | p.H193R | Not-functional | C65 | Positive | High | Alive | 4.05 | | 203 | EC781T | 1 | 7578524G > C | Missense | exon5 | c.C406G | p.Q136E | Not-functional | C25 | Positive | High | Dead | 1.33 | | 205 | EC779T | 1 | 7577120C > T | Missense | exon8 | c.G818A | p.R273H | Not-functional | C25 | Positive | High | Alive | 4.42 | | 206 | EC766T | 1 | 7577035TG > T | Frame_Shift_Del | exon8 | c.902delC | p.P301fs | — | — | Positive | Low | Dead | 1.61 | | 207 | EC769T | 1 | 7577106G > T | Missense | exon8 | c.C832A | p.P278T | Not-functional | C35 | Positive | High | Alive | 4.46 | | 208 | EC807T | 1 | 7578454G > A | Missense | exon5 | c.C476T | p.A159V | Not-functional | C0 | Positive | High | Alive | 4.11 | | 209 | EC900T | 1 | 7579414C > T | Nonsense | exon4 | c.G273A | p.W91X | — | — | Negative | Low | Alive | 4.11 | | 210 | EC898T | 1 | 7578212G > A | Nonsense | exon6 | c.C637T | p.R213X | — | — | Negative | Low | Alive | 4.13 | | 212 | EC904T | 1 | 7577142C > T | Missense | exon8 | c.G796A | p.G266R | Not-functional | C65 | Positive | High | Alive | 4.12 | | 214 | EC908T | 1 | 7574018G > A | Missense | exon10 | c.C1009T | p.R337C | Not-functional | C45 | Positive | High | Dead | 1.88 | | 215 | EC907T | 1 | 7577124C > A | Missense | exon8 | c.G814T | p.V272L | Not-functional | C25 | Positive | High | Dead | 15.80 | | 217 | EC902T | 1 | 7577094G > C | Missense | exon8 | c.C844G | p.R282G | Not-functional | C65 | Positive | Low | Alive | 4.15 | | 218 | EC906T | 1 | 7578437G > A | Nonsense | exon5 | c.C493T | p.Q165X | — | — | Not detected | Not detected | Alive | 4.51 | | 222 | TW094BF | 2 | 7576857A > C | Missense | exon9 | c.T989G | p.L330R | Not-functional | C65 | Positive | Low | Dead | 2.74 | | 7578176C > A | Splice_Site | exon7 | c.672 + 1G > T | — | — | — | | 223 | G042_T | 1 | 7578427T > C | Missense | exon5 | c.A503G | p.H168R | Not-functional | C25 | Negative | Low | Alive | 4.16 | | 226 | EC909T | 1 | 7578177C > T | Silent | exon6 | c.G672A | p.E224E | — | — | Negative | Low | Alive | 3.12 | | 227 | EC916T | 1 | 7578395G > A | Missense | exon5 | c.C535T | p.H179Y | Partially functional | C65 | Positive | Low | Alive | 4.18 | | 229 | EC913T | 1 | 7578249AT > A | Frame_Shift_Del | exon6 | c.599delA | p.N200fs | — | — | Negative | Low | Dead | 3.05 | | 231 | EC920T | 1 | 7578442T > C | Missense | exon5 | c.A488G | p.Y163C | Not-functional | C65 | Positive | High | Dead | 2.15 | | 232 | EC918T | 1 | 7578406C > T | Missense | exon5 | c.G524A | p.R175H | Not-functional | C25 | Positive | High | Dead | 2.21 | | 233 | TW890BF | 1 | 7577121G > A | Missense | exon8 | c.C817T | p.R273C | Not-functional | C65 | Positive | Low | Dead | 2.35 | | 236 | EC921T | 1 | 7579592T > A | Splice_Site | exon5 | c.97-2A > T | — | — | — | Negative | Low | Dead | 2.00 | | 238 | EC924T | 1 | 7577121G > A | Missense | exon8 | c.C817T | p.R273C | Not-functional | C65 | Positive | High | Dead | 3.30 | | 240 | EC684T | 1 | 7578223CT > C | Frame_Shift_Del | exon6 | c.625delA | p.R209fs | — | — | Negative | Low | Dead | 3.84 | | 241 | EC682T | 1 | 7577152AC > A | Frame_Shift_Del | exon8 | c.785delG | p.G262fs | — | — | Negative | Low | Alive | 4.42 | | 243 | EC680T | 1 | 7579419AG > A | Frame_Shift_Del | exon4 | c.267delC | p.P89fs | — | — | Negative | Low | Alive | 4.42 | | 244 | EC055T | 1 | 7577124C > T | Missense | exon8 | c.G814A | p.V272M | Not-functional | C15 | Positive | High | Dead | 0.88 | | 245 | EC681T | 1 | 7577610T > A | Splice_Site | exon8 | c.673-2A > T | — | — | — | Negative | Low | Alive | 4.44 | | 247 | EC676T | 1 | 7579311C > T | Splice_Site | exon5 | c.375+1G > A | — | — | — | Negative | Low | Dead | 0.98 | | 248 | EC677T | 1 | 7576851A > G | Splice_Site | exon10 | c.993+2T > C | — | — | — | Negative | Low | Alive | 4.44 | | 249 | EC672T | 1 | 7576851A > G | Splice_Site | exon10 | c.993+2T > C | — | — | — | Negative | Low | Dead | 1.83 | | 250 | EC666T | 1 | 7578212G > A | Nonsense | exon6 | c.C637T | p.R213X | — | — | Negative | Low | Dead | 1.54 | | 251 | EC660T | 1 | 7579358C > A | Missense | exon4 | c.G329T | p.R110L | Not-functional | C25 | Positive | High | Alive | 4.50 | | 253 | EC659T | 1 | 7578479G > A | Missense | exon5 | c.C451T | p.P151S | Not-functional | C65 | Positive | High | Alive | 4.87 | | 254 | EC1002T | 1 | 7577094G > A | Missense | exon8 | c.C844T | p.R282W | Not-functional | C65 | Positive | High | Alive | 4.65 | | 258 | EC651T | 1 | 7578413C > A | Missense | exon5 | c.G517T | p.V173L | Not-functional | C25 | Positive | High | Alive | 4.53 | | 259 | EC645T | 1 | 7579528C > T | Nonsense | exon4 | c.G159A | p.W53X | — | — | Negative | Low | Alive | 4.55 | | 260 | EC928T | 2 | 7577141C > T | Missense | exon8 | c.G797A | p.G266E | Not-functional | C65 | Positive | Low | Alive | 4.58 | | 7578263G > A | Nonsense | exon6 | c.C586T | p.R196X | — | — | | 261 | EC926T | 1 | 7578265A > AT | Frame_Shift_Ins | exon6 | c.583dupA | p.I195fs | — | — | Negative | Low | Alive | 4.96 | | 262 | EC929T | 2 | 7579355A > G | Missense | exon4 | c.T332C | p.L111P | Not-functional | C65 | Positive | High | Dead | 1.54 | | 7579354C > A | Silent | exon4 | c.G333T | p.L111L | — | — | | 263 | EC927T | 1 | 7578175A > G | Splice_Site | exon7 | c.672+2T > C | — | — | — | Negative | Low | Dead | 1.99 | | 265 | EC038T | 1 | 7579335TC > T | Frame_Shift_Del | exon4 | c.351delG | p.G117fs | — | — | Negative | Low | Dead | 1.47 | | 266 | EC930T | 1 | 7578265A > T | Missense | exon6 | c.T584A | p.I195N | Not-functional | C65 | Positive | High | Alive | 4.91 | | 268 | EC1000T | 2 | 7577105G > C | Missense | exon8 | c.C833G | p.P278R | Not-functional | C65 | Positive | Low | Alive | 4.64 | | 7578406C > T | Missense | exon5 | c.G524A | p.R175H | Not-functional | C25 | | 269 | EC999T | 1 | 7578469C > A | Missense | exon5 | c.G461T | p.G154V | Not-functional | C65 | Positive | Low | Alive | 4.64 | | 270 | EC1001T | 2 | 7578413C > T | Missense | exon5 | c.G517A | p.V173M | Not-functional | C15 | Positive | High | Dead | 1.92 | | 7578263G > A | Nonsense | exon6 | c.C586T | p.R196X | — | — | | 271 | G017_T | 1 | 7578212G > A | Nonsense | exon6 | c.C637T | p.R213X | — | — | Negative | Low | Alive | 4.70 | | 272 | EC894T | 1 | 7577094G > A | Missense | exon8 | c.C844T | p.R282W | Not-functional | C65 | Positive | High | Alive | 4.68 | | 274 | EC895T | 1 | 7578265A > G | Missense | exon6 | c.T584C | p.I195T | Not-functional | C55 | Positive | High | Dead | 2.11 | | 275 | EC890T | 1 | 7578245G > GC | Frame_Shift_Ins | exon6 | c.603dupG | p.R202fs | — | — | Negative | Low | Alive | 4.69 | | 277 | EC027T | 1 | 7578526C > A | Missense | exon5 | c.G404T | p.C135F | Not-functional | C65 | Positive | Low | Alive | 11.89 | | 278 | TW258BF | 1 | 7577609C > T | Splice_Site | exon8 | c.673-1G > A | — | — | — | Not detected | Not detected | Dead | 1.39 | | 279 | EC114T | 1 | 7577144A > C | Missense | exon8 | c.T794G | p.L265R | Not-functional | C65 | Not detected | Not detected | Alive | 10.78 | | 280 | EC099T | 1 | 7578384G > T | Nonsense | exon5 | c.C546A | p.C182X | — | — | Not detected | Not detected | Dead | 1.76 | | 281 | TW1375BF | 1 | 7578263G > A | Nonsense | exon6 | c.C586T | p.R196X | — | — | Not detected | Not detected | Alive | 9.72 | | 283 | EC107T | 1 | 7579388T > TG | Frame_Shift_Ins | exon4 | c.298dupC | p.Q100fs | — | — | Not detected | Not detected | Dead | 3.06 | | 285 | EC188T | 1 | 7579315G > GC | Frame_Shift_Ins | exon4 | c.371dupG | p.C124fs | — | — | Not detected | Not detected | Dead | 1.93 | | 288 | EC081T | 1 | 7578265A > G | Missense | exon6 | c.T584C | p.I195T | Not-functional | C55 | Not detected | Not detected | Dead | 2.62 | | 290 | EC145T | 1 | 7578413C > T | Missense | exon5 | c.G517A | p.V173M | Not-functional | C15 | Not detected | Not detected | Alive | 2.88 | | 291 | EC131T | 2 | 7578413C > A | Missense | exon5 | c.G517T | p.V173L | Not-functional | C25 | Not detected | Not detected | Alive | 12.35 | | 7574000C > A | Nonsense | exon10 | c.G1027T | p.E343X | — | — | | 292 | TW470BF | 1 | 7577544A > T | Missense | exon7 | c.T737A | p.M246K | Not-functional | C65 | Not detected | Not detected | Alive | 15.36 | | 293 | EC086T | 1 | 7579372GC > G | Frame_Shift_Del | exon4 | c.314delG | p.G105fs | — | — | Not detected | Not detected | Alive | 11.00 | | 295 | EC126T | 1 | 7579470CG > C | Frame_Shift_Del | exon4 | c.216delC | p.P72fs | — | — | Not detected | Not detected | Alive | 11.37 | | 296 | EC040T | 2 | 7577568C > G | Missense | exon7 | c.G713C | p.C238S | Not-functional | C65 | Not detected | Not detected | Alive | 8.24 | | 7577022G > A | Nonsense | exon8 | c.C916T | p.R306X | — | — | | 297 | TW1371BF | 1 | 7578483GGAAT > G | Frame_Shift_Del | exon5 | c.443_446del | p.D148fs | — | — | Not detected | Not detected | Dead | 2.22 | | 298 | TW1371AF | 1 | 7578271T > A | Missense | exon6 | c.A578T | p.H193L | Not-functional | C65 | Not detected | Not detected | Dead | 0.92 | | 299 | MC34T | 1 | 7577538C > A | Missense | exon7 | c.G743T | p.R248L | Not-functional | C65 | Not detected | Not detected | Dead | 7.54 | | 301 | CE2T | 1 | 7578205CTA > C | Frame_Shift_Del | exon6 | c.642_643del | p.H214fs | — | — | Not detected | Not detected | Alive | 13.37 | | 302 | MC29T | 1 | 7579345CA > C | Frame_Shift_Del | exon4 | c.341delT | p.L114fs | — | — | Not detected | Not detected | Dead | 4.26 | | 303 | EC034T | 1 | 7577539G > A | Missense | exon7 | c.C742T | p.R248W | Not-functional | C65 | Not detected | Not detected | Dead | 6.17 | | 305 | TW2309BF | 1 | 7577022G > A | Nonsense | exon8 | c.C916T | p.R306X | — | — | Not detected | Not detected | Alive | 11.74 | | 306 | EC128T | 1 | 7578406C > T | Missense | exon5 | c.G524A | p.R175H | Not-functional | C25 | Not detected | Not detected | Dead | 4.00 | | 307 | EC192T | 1 | 7578395G > A | Missense | exon5 | c.C535T | p.H179Y | Partially functional | C65 | Not detected | Not detected | Dead | 2.78 | | 310 | MC26T | 1 | 7578265A > G | Missense | exon6 | c.T584C | p.I195T | Not-functional | C55 | Not detected | Not detected | Dead | 1.66 | | 311 | EC060T | 1 | 7578179C > A | Nonsense | exon6 | c.G670T | p.E224X | — | — | Not detected | Not detected | Alive | 6.87 | | 312 | TW829AF | 1 | 7579315G > GC | Frame_Shift_Ins | exon4 | c.371dupG | p.C124fs | — | — | Not detected | Not detected | Alive | 14.09 | | 313 | TW1099AF | 2 | 7578208T > C | Missense | exon6 | c.A641G | p.H214R | Not-functional | C0 | Not detected | Not detected | Alive | 11.02 | | 7579485C > A | Nonsense | exon4 | c.G202T | p.E68X | — | — | | 314 | EC094T | 2 | 7577539G > A | Missense | exon7 | c.C742T | p.R248W | Not-functional | C65 | Not detected | Not detected | Dead | 5.70 | | 7576928T > A | Splice_Site | exon10 | c.920-2A > T | — | — | — | | 316 | EC012T | 1 | 7579315G > GC | Frame_Shift_Ins | exon4 | c.371dupG | p.C124fs | — | — | Not detected | Not detected | Dead | 1.36 |
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