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ic.*33G>TchrX:g.100652764C>AdownstreamNon-codingLikely benign06/05/20201 [1/0/0]0.00459 | | chrX:g.100652764C>A | downstream | Non-coding | Likely benign | 06/05/2020 | 1 [1/0/0] | 0.00459 |
ic.1000_*18delp.G334_L428delins28chrX:g.100652779_100653087delexon 7In-framePathogenic05/19/20202 [1/0/1]0.00919 | p.G334_L428delins28 | chrX:g.100652779_100653087del | exon 7 | In-frame | Pathogenic | 05/19/2020 | 2 [1/0/1] | 0.00919 |
ic.548_*18delp.G183Efs*20chrX:g.100652779_100655745dele4_e7FrameshiftPathogenic02/28/20201 [0/0/1]0.00459 | p.G183Efs*20 | chrX:g.100652779_100655745del | e4_e7 | Frameshift | Pathogenic | 02/28/2020 | 1 [0/0/1] | 0.00459 |
ic.*13_*14delchrX:g.100652783_100652784del3'UTREffect unknownLikely benign06/12/20202 [0/2/0]0.00919 | | chrX:g.100652783_100652784del | 3'UTR | Effect unknown | Likely benign | 06/12/2020 | 2 [0/2/0] | 0.00919 |
ic.*12T>AchrX:g.100652785A>T3'UTREffect unknownUncertain03/05/20202 [1/1/0]0.00459 | | chrX:g.100652785A>T | 3'UTR | Effect unknown | Uncertain | 03/05/2020 | 2 [1/1/0] | 0.00459 |
ic.*5T>GchrX:g.100652792A>C3'UTREffect unknownUncertain06/17/20201 [0/0/1]0.00459 | | chrX:g.100652792A>C | 3'UTR | Effect unknown | Uncertain | 06/17/2020 | 1 [0/0/1] | 0.00459 |
ic.*4G>TchrX:g.100652793C>A3'UTREffect unknownUncertain06/17/20201 [1/0/0]0.00459 | | chrX:g.100652793C>A | 3'UTR | Effect unknown | Uncertain | 06/17/2020 | 1 [1/0/0] | 0.00459 |
ic.1284_1287delp.L428Ffs*?chrX:g.100652800_100652803delexon 7FrameshiftPathogenic05/30/20202 [0/0/2]0.02519 | p.L428Ffs*? | chrX:g.100652800_100652803del | exon 7 | Frameshift | Pathogenic | 05/30/2020 | 2 [0/0/2] | 0.02519 |
ic.1286T>Cp.L429PchrX:g.100652801A>Gexon 7MissenseLikely benign06/12/20201 [0/0/1]0.01119 | p.L429P | chrX:g.100652801A>G | exon 7 | Missense | Likely benign | 06/12/2020 | 1 [0/0/1] | 0.01119 |
ic.1277_1278delp.K426Rfs*?chrX:g.100652809_100652810delexon 7FrameshiftPathogenic06/02/202012 [8/0/4]0.03079 | p.K426Rfs*? | chrX:g.100652809_100652810del | exon 7 | Frameshift | Pathogenic | 06/02/2020 | 12 [8/0/4] | 0.03079 |
ic.1250T>Cp.L417PchrX:g.100652837A>Gexon 7MissensePathogenic05/19/20202 [2/0/0]0.01399 | p.L417P | chrX:g.100652837A>G | exon 7 | Missense | Pathogenic | 05/19/2020 | 2 [2/0/0] | 0.01399 |
ic.1247A>Cp.Q416PchrX:g.100652840T>Gexon 7MissensePathogenic06/12/20206 [4/0/2]0.00280 | p.Q416P | chrX:g.100652840T>G | exon 7 | Missense | Pathogenic | 06/12/2020 | 6 [4/0/2] | 0.00280 |
ic.1246C>Tp.Q416XchrX:g.100652841G>Aexon 7NonsensePathogenic03/13/20202 [1/0/1]0.01119 | p.Q416X | chrX:g.100652841G>A | exon 7 | Nonsense | Pathogenic | 03/13/2020 | 2 [1/0/1] | 0.01119 |
ic.1244T>Cp.L415PchrX:g.100652843A>Gexon 7MissensePathogenic06/02/20203 [1/0/2]0.12318 | p.L415P | chrX:g.100652843A>G | exon 7 | Missense | Pathogenic | 06/02/2020 | 3 [1/0/2] | 0.12318 |
ic.1241T>Ap.L414XchrX:g.100652846A>Texon 7NonsenseUncertain06/09/20201 [1/0/0]0.00280 | p.L414X | chrX:g.100652846A>T | exon 7 | Nonsense | Uncertain | 06/09/2020 | 1 [1/0/0] | 0.00280 |
ic.1239T>Cp.V413VchrX:g.100652848A>Gexon 7SilentLikely benign06/12/20202 [1/0/1]0.00839 | p.V413V | chrX:g.100652848A>G | exon 7 | Silent | Likely benign | 06/12/2020 | 2 [1/0/1] | 0.00839 |
ic.1235_1236delp.T412Sfs*?chrX:g.100652851_100652852delexon 7FrameshiftPathogenic06/02/202031 [20/0/11]0.10638 | p.T412Sfs*? | chrX:g.100652851_100652852del | exon 7 | Frameshift | Pathogenic | 06/02/2020 | 31 [20/0/11] | 0.10638 |
ic.1226C>Ap.P409HchrX:g.100652861G>Texon 7MissensePathogenic03/28/20209 [6/0/3]0.00559 | p.P409H | chrX:g.100652861G>T | exon 7 | Missense | Pathogenic | 03/28/2020 | 9 [6/0/3] | 0.00559 |
ic.1215_1216delp.S405Rfs*?chrX:g.100652871_100652872delexon 7FrameshiftPathogenic03/13/20202 [0/0/2]0.00559 | p.S405Rfs*? | chrX:g.100652871_100652872del | exon 7 | Frameshift | Pathogenic | 03/13/2020 | 2 [0/0/2] | 0.00559 |
ic.1212_1214delp.R404delchrX:g.100652873_100652875delexon 7In-framePathogenic05/30/202013 [8/0/5]0.03079 | p.R404del | chrX:g.100652873_100652875del | exon 7 | In-frame | Pathogenic | 05/30/2020 | 13 [8/0/5] | 0.03079 |
ic.1208delp.L403XchrX:g.100652879delexon 7NonsensePathogenic03/14/20201 [1/0/0]0.00459 | p.L403X | chrX:g.100652879del | exon 7 | Nonsense | Pathogenic | 03/14/2020 | 1 [1/0/0] | 0.00459 |
ic.1207T>Cp.L403LchrX:g.100652880A>Gexon 7SilentLikely benign04/25/20204 [4/0/0]0.01959 | p.L403L | chrX:g.100652880A>G | exon 7 | Silent | Likely benign | 04/25/2020 | 4 [4/0/0] | 0.01959 |
ic.1196G>Cp.W399SchrX:g.100652891C>Gexon 7MissensePathogenic04/04/20207 [4/0/3]0.02799 | p.W399S | chrX:g.100652891C>G | exon 7 | Missense | Pathogenic | 04/04/2020 | 7 [4/0/3] | 0.02799 |
ic.1196G>Ap.W399XchrX:g.100652891C>Texon 7NonsensePathogenic06/02/20205 [3/0/2]0.01679 | p.W399X | chrX:g.100652891C>T | exon 7 | Nonsense | Pathogenic | 06/02/2020 | 5 [3/0/2] | 0.01679 |
ic.1193_1196delp.E398Gfs*5chrX:g.100652891_100652894delexon 7FrameshiftPathogenic02/28/20207 [2/0/5]0.03639 | p.E398Gfs*5 | chrX:g.100652891_100652894del | exon 7 | Frameshift | Pathogenic | 02/28/2020 | 7 [2/0/5] | 0.03639 |
ic.1191T>Gp.Y397XchrX:g.100652896A>Cexon 7NonsensePathogenic06/02/20203 [2/0/1]0.00280 | p.Y397X | chrX:g.100652896A>C | exon 7 | Nonsense | Pathogenic | 06/02/2020 | 3 [2/0/1] | 0.00280 |
ic.1191T>Cp.Y397YchrX:g.100652896A>Gexon 7SilentLikely benign03/06/20201 [0/0/1]0.00559 | p.Y397Y | chrX:g.100652896A>G | exon 7 | Silent | Likely benign | 03/06/2020 | 1 [0/0/1] | 0.00559 |
ic.1191T>Ap.Y397XchrX:g.100652896A>Texon 7NonsensePathogenic02/28/20201 [0/0/1]0.00459 | p.Y397X | chrX:g.100652896A>T | exon 7 | Nonsense | Pathogenic | 02/28/2020 | 1 [0/0/1] | 0.00459 |
ic.1176G>Tp.R392SchrX:g.100652911C>Aexon 7MissenseUncertain06/17/20204 [4/0/0]0.00559 | p.R392S | chrX:g.100652911C>A | exon 7 | Missense | Uncertain | 06/17/2020 | 4 [4/0/0] | 0.00559 |
ic.1163_1165delp.L388delchrX:g.100652922_100652924delexon 7In-framePathogenic06/12/20203 [2/0/1]0.00839 | p.L388del | chrX:g.100652922_100652924del | exon 7 | In-frame | Pathogenic | 06/12/2020 | 3 [2/0/1] | 0.00839 |
ic.1156C>Tp.Q386XchrX:g.100652931G>Aexon 7NonsensePathogenic05/30/202011 [10/0/1]0.01399 | p.Q386X | chrX:g.100652931G>A | exon 7 | Nonsense | Pathogenic | 05/30/2020 | 11 [10/0/1] | 0.01399 |
ic.1153A>Gp.T385AchrX:g.100652934T>Cexon 7MissenseUncertain06/17/202025 [13/0/12]0.31355 | p.T385A | chrX:g.100652934T>C | exon 7 | Missense | Uncertain | 06/17/2020 | 25 [13/0/12] | 0.31355 |
ic.1145G>Ap.C382YchrX:g.100652942C>Texon 7MissensePathogenic03/14/20203 [0/0/3]0.00559 | p.C382Y | chrX:g.100652942C>T | exon 7 | Missense | Pathogenic | 03/14/2020 | 3 [0/0/3] | 0.00559 |
ic.1141G>Cp.A381PchrX:g.100652946C>Gexon 7MissenseUncertain10/09/20191 [0/0/1]0.00459 | p.A381P | chrX:g.100652946C>G | exon 7 | Missense | Uncertain | 10/09/2019 | 1 [0/0/1] | 0.00459 |
ic.1132T>Cp.C378RchrX:g.100652955A>Gexon 7MissensePathogenic06/12/20208 [4/0/4]0.02799 | p.C378R | chrX:g.100652955A>G | exon 7 | Missense | Pathogenic | 06/12/2020 | 8 [4/0/4] | 0.02799 |
ic.1124_1129delp.G375_V376delchrX:g.100652958_100652963delexon 7In-framePathogenic06/06/20201 [1/0/0]0.00459 | p.G375_V376del | chrX:g.100652958_100652963del | exon 7 | In-frame | Pathogenic | 06/06/2020 | 1 [1/0/0] | 0.00459 |
ic.1124G>Cp.G375AchrX:g.100652963C>Gexon 7MissenseLikely pathogenic06/17/202033 [20/0/13]0.16517 | p.G375A | chrX:g.100652963C>G | exon 7 | Missense | Likely pathogenic | 06/17/2020 | 33 [20/0/13] | 0.16517 |
ic.1121A>Cp.K374TchrX:g.100652966T>Gexon 7MissenseUncertain10/09/20191 [0/0/1]0.00459 | p.K374T | chrX:g.100652966T>G | exon 7 | Missense | Uncertain | 10/09/2019 | 1 [0/0/1] | 0.00459 |
ic.1118G>Ap.G373DchrX:g.100652969C>Texon 7MissensePathogenic03/28/20208 [5/0/3]0.01119 | p.G373D | chrX:g.100652969C>T | exon 7 | Missense | Pathogenic | 03/28/2020 | 8 [5/0/3] | 0.01119 |
ic.1090_1103delp.Y365Cfs*5chrX:g.100652984_100652997delexon 7FrameshiftPathogenic02/18/20202 [1/0/1]0.00839 | p.Y365Cfs*5 | chrX:g.100652984_100652997del | exon 7 | Frameshift | Pathogenic | 02/18/2020 | 2 [1/0/1] | 0.00839 |
ic.1102G>Ap.A368TchrX:g.100652985C>Texon 7MissenseUncertain06/17/2020100 [76/0/24]0.25476 | p.A368T | chrX:g.100652985C>T | exon 7 | Missense | Uncertain | 06/17/2020 | 100 [76/0/24] | 0.25476 |
ic.1095T>Cp.Y365YchrX:g.100652992A>Gexon 7SilentLikely benign06/12/20201 [1/0/0]0.01679 | p.Y365Y | chrX:g.100652992A>G | exon 7 | Silent | Likely benign | 06/12/2020 | 1 [1/0/0] | 0.01679 |
ic.1088G>Ap.R363HchrX:g.100652999C>Texon 7MissensePathogenic05/30/202044 [28/0/16]0.15677 | p.R363H | chrX:g.100652999C>T | exon 7 | Missense | Pathogenic | 05/30/2020 | 44 [28/0/16] | 0.15677 |
ic.1079G>Ap.G360DchrX:g.100653008C>Texon 7MissensePathogenic02/21/20206 [5/0/1]0.01679 | p.G360D | chrX:g.100653008C>T | exon 7 | Missense | Pathogenic | 02/21/2020 | 6 [5/0/1] | 0.01679 |
ic.1078G>Cp.G360RchrX:g.100653009C>Gexon 7MissensePathogenic04/08/20201 [0/0/1]0.00459 | p.G360R | chrX:g.100653009C>G | exon 7 | Missense | Pathogenic | 04/08/2020 | 1 [0/0/1] | 0.00459 |
ic.1078G>Ap.G360SchrX:g.100653009C>Texon 7MissensePathogenic03/14/20202 [2/0/0]0.01399 | p.G360S | chrX:g.100653009C>T | exon 7 | Missense | Pathogenic | 03/14/2020 | 2 [2/0/0] | 0.01399 |
ic.1072_1074delp.E358delchrX:g.100653013_100653015delexon 7In-framePathogenic04/24/202029 [20/0/9]0.12878 | p.E358del | chrX:g.100653013_100653015del | exon 7 | In-frame | Pathogenic | 04/24/2020 | 29 [20/0/9] | 0.12878 |
ic.1073A>Gp.E358GchrX:g.100653014T>Cexon 7MissensePathogenic03/14/20203 [2/0/1]0.00839 | p.E358G | chrX:g.100653014T>C | exon 7 | Missense | Pathogenic | 03/14/2020 | 3 [2/0/1] | 0.00839 |
ic.1072G>Ap.E358KchrX:g.100653015C>Texon 7MissensePathogenic04/25/202022 [11/0/11]0.02239 | p.E358K | chrX:g.100653015C>T | exon 7 | Missense | Pathogenic | 04/25/2020 | 22 [11/0/11] | 0.02239 |
ic.1056_1069delp.M353Gfs*17chrX:g.100653018_100653031delexon 7FrameshiftPathogenic10/23/20192 [1/0/1]0.00280 | p.M353Gfs*17 | chrX:g.100653018_100653031del | exon 7 | Frameshift | Pathogenic | 10/23/2019 | 2 [1/0/1] | 0.00280 |
ic.1067G>Cp.R356PchrX:g.100653020C>Gexon 7MissensePathogenic05/30/20203 [2/0/1]0.00839 | p.R356P | chrX:g.100653020C>G | exon 7 | Missense | Pathogenic | 05/30/2020 | 3 [2/0/1] | 0.00839 |
ic.1067G>Ap.R356QchrX:g.100653020C>Texon 7MissensePathogenic06/15/20205 [1/0/4]0.02519 | p.R356Q | chrX:g.100653020C>T | exon 7 | Missense | Pathogenic | 06/15/2020 | 5 [1/0/4] | 0.02519 |
ic.1066C>Tp.R356WchrX:g.100653021G>Aexon 7MissensePathogenic02/21/202052 [37/0/15]0.22396 | p.R356W | chrX:g.100653021G>A | exon 7 | Missense | Pathogenic | 02/21/2020 | 52 [37/0/15] | 0.22396 |
ic.1065C>Gp.N355KchrX:g.100653022G>Cexon 7MissensePathogenic06/12/20201 [1/0/0]0.00459 | p.N355K | chrX:g.100653022G>C | exon 7 | Missense | Pathogenic | 06/12/2020 | 1 [1/0/0] | 0.00459 |
ic.1055C>Gp.A352GchrX:g.100653032G>Cexon 7MissenseUncertain06/17/202014 [8/1/5]0.33035 | p.A352G | chrX:g.100653032G>C | exon 7 | Missense | Uncertain | 06/17/2020 | 14 [8/1/5] | 0.33035 |
ic.1051_1052delp.V351Sfs*23chrX:g.100653035_100653036delexon 7FrameshiftPathogenic02/21/20203 [2/0/1]0.00559 | p.V351Sfs*23 | chrX:g.100653035_100653036del | exon 7 | Frameshift | Pathogenic | 02/21/2020 | 3 [2/0/1] | 0.00559 |
ic.1050T>Gp.A350AchrX:g.100653037A>Cexon 7SilentUncertain09/30/20191 [0/0/1]0.00559 | p.A350A | chrX:g.100653037A>C | exon 7 | Silent | Uncertain | 09/30/2019 | 1 [0/0/1] | 0.00559 |
ic.1047G>Ap.W349XchrX:g.100653040C>Texon 7NonsensePathogenic05/30/202014 [9/0/5]0.04759 | p.W349X | chrX:g.100653040C>T | exon 7 | Nonsense | Pathogenic | 05/30/2020 | 14 [9/0/5] | 0.04759 |
ic.1046G>Cp.W349SchrX:g.100653041C>Gexon 7MissensePathogenic03/28/202020 [14/0/6]0.03359 | p.W349S | chrX:g.100653041C>G | exon 7 | Missense | Pathogenic | 03/28/2020 | 20 [14/0/6] | 0.03359 |
ic.1045dupp.W349Lfs*26chrX:g.100653042dupexon 7FrameshiftPathogenic02/21/20209 [7/0/2]0.02239 | p.W349Lfs*26 | chrX:g.100653042dup | exon 7 | Frameshift | Pathogenic | 02/21/2020 | 9 [7/0/2] | 0.02239 |
ic.1033_1034delp.S345Rfs*29chrX:g.100653053_100653054delexon 7FrameshiftPathogenic03/14/20204 [2/0/2]0.01679 | p.S345Rfs*29 | chrX:g.100653053_100653054del | exon 7 | Frameshift | Pathogenic | 03/14/2020 | 4 [2/0/2] | 0.01679 |
ic.1028delp.P343Lfs*5chrX:g.100653059delexon 7FrameshiftPathogenic02/21/20205 [4/0/1]0.00839 | p.P343Lfs*5 | chrX:g.100653059del | exon 7 | Frameshift | Pathogenic | 02/21/2020 | 5 [4/0/1] | 0.00839 |
ic.1025G>Cp.R342PchrX:g.100653062C>Gexon 7MissensePathogenic06/02/202014 [8/0/6]0.01399 | p.R342P | chrX:g.100653062C>G | exon 7 | Missense | Pathogenic | 06/02/2020 | 14 [8/0/6] | 0.01399 |
ic.1025G>Ap.R342QchrX:g.100653062C>Texon 7MissensePathogenic05/30/202056 [31/0/25]0.14277 | p.R342Q | chrX:g.100653062C>T | exon 7 | Missense | Pathogenic | 05/30/2020 | 56 [31/0/25] | 0.14277 |
ic.1024C>Tp.R342XchrX:g.100653063G>Aexon 7NonsensePathogenic05/30/202043 [26/0/17]0.20437 | p.R342X | chrX:g.100653063G>A | exon 7 | Nonsense | Pathogenic | 05/30/2020 | 43 [26/0/17] | 0.20437 |
ic.1021dupp.E341Gfs*34chrX:g.100653066dupexon 7FrameshiftPathogenic03/28/20203 [3/0/0]0.01379 | p.E341Gfs*34 | chrX:g.100653066dup | exon 7 | Frameshift | Pathogenic | 03/28/2020 | 3 [3/0/0] | 0.01379 |
ic.1019G>Ap.W340XchrX:g.100653068C>Texon 7NonsensePathogenic05/30/202010 [8/0/2]0.02519 | p.W340X | chrX:g.100653068C>T | exon 7 | Nonsense | Pathogenic | 05/30/2020 | 10 [8/0/2] | 0.02519 |
ic.1016T>Cp.V339AchrX:g.100653071A>Gexon 7MissenseLikely pathogenic06/09/20205 [3/0/2]0.01679 | p.V339A | chrX:g.100653071A>G | exon 7 | Missense | Likely pathogenic | 06/09/2020 | 5 [3/0/2] | 0.01679 |
ic.1000-1G>AchrX:g.100653088C>Tintron 6Splicing mutationPathogenic05/30/20203 [1/0/2]0.01119 | | chrX:g.100653088C>T | intron 6 | Splicing mutation | Pathogenic | 05/30/2020 | 3 [1/0/2] | 0.01119 |
ic.1000-6T>CchrX:g.100653093A>Gintron 6Splicing mutationLikely benign05/13/20202 [1/0/1]0.01119 | | chrX:g.100653093A>G | intron 6 | Splicing mutation | Likely benign | 05/13/2020 | 2 [1/0/1] | 0.01119 |
ic.1000-10G>AchrX:g.100653097C>Tintron 6Splicing mutationPathogenic03/28/20209 [5/0/4]0.01679 | | chrX:g.100653097C>T | intron 6 | Splicing mutation | Pathogenic | 03/28/2020 | 9 [5/0/4] | 0.01679 |
ic.1000-22C>TchrX:g.100653109G>Aintron 6Effect unknownBenign06/12/202035421 [22180/4637/8604]241.66284 | | chrX:g.100653109G>A | intron 6 | Effect unknown | Benign | 06/12/2020 | 35421 [22180/4637/8604] | 241.66284 |
ic.1000-33T>CchrX:g.100653120A>Gintron 6Effect unknownUncertain11/29/20191 [0/0/1]0.00459 | | chrX:g.100653120A>G | intron 6 | Effect unknown | Uncertain | 11/29/2019 | 1 [0/0/1] | 0.00459 |
ic.1000-51_1000-50delchrX:g.100653137_100653138delintron 6Effect unknownUncertain03/05/20202 [2/0/0]0.01379 | | chrX:g.100653137_100653138del | intron 6 | Effect unknown | Uncertain | 03/05/2020 | 2 [2/0/0] | 0.01379 |
ic.1000-55_1000-52delchrX:g.100653139_100653142delintron 6Effect unknownBenign06/17/2020264 [178/3/83]4.27605 | | chrX:g.100653139_100653142del | intron 6 | Effect unknown | Benign | 06/17/2020 | 264 [178/3/83] | 4.27605 |
ic.1000-59A>CchrX:g.100653146T>Gintron 6Effect unknownLikely benign04/25/20202 [0/0/2]0.00919 | | chrX:g.100653146T>G | intron 6 | Effect unknown | Likely benign | 04/25/2020 | 2 [0/0/2] | 0.00919 |
ic.999+84C>AchrX:g.100653274G>Tintron 6Effect unknownLikely benign04/25/20205 [4/0/1]0.02369 | | chrX:g.100653274G>T | intron 6 | Effect unknown | Likely benign | 04/25/2020 | 5 [4/0/1] | 0.02369 |
ic.999+68C>GchrX:g.100653290G>Cintron 6Effect unknownLikely benign04/24/20208 [8/0/0]0.07574 | | chrX:g.100653290G>C | intron 6 | Effect unknown | Likely benign | 04/24/2020 | 8 [8/0/0] | 0.07574 |
ic.999+39C>GchrX:g.100653319G>Cintron 6Effect unknownUncertain10/02/20192 [2/0/0]0.00280 | | chrX:g.100653319G>C | intron 6 | Effect unknown | Uncertain | 10/02/2019 | 2 [2/0/0] | 0.00280 |
ic.994delp.R332Dfs*16chrX:g.100653363delexon 6FrameshiftPathogenic06/08/20202 [2/0/0]0.00919 | p.R332Dfs*16 | chrX:g.100653363del | exon 6 | Frameshift | Pathogenic | 06/08/2020 | 2 [2/0/0] | 0.00919 |
ic.989A>Gp.Q330RchrX:g.100653368T>Cexon 6MissenseLikely pathogenic06/17/20201 [0/0/1]0.01119 | p.Q330R | chrX:g.100653368T>C | exon 6 | Missense | Likely pathogenic | 06/17/2020 | 1 [0/0/1] | 0.01119 |
ic.983G>Tp.G328VchrX:g.100653374C>Aexon 6MissensePathogenic03/14/20209 [7/0/2]0.01679 | p.G328V | chrX:g.100653374C>A | exon 6 | Missense | Pathogenic | 03/14/2020 | 9 [7/0/2] | 0.01679 |
ic.983G>Cp.G328AchrX:g.100653374C>Gexon 6MissensePathogenic03/06/20203 [1/0/2]0.00559 | p.G328A | chrX:g.100653374C>G | exon 6 | Missense | Pathogenic | 03/06/2020 | 3 [1/0/2] | 0.00559 |
ic.982G>Cp.G328RchrX:g.100653375C>Gexon 6MissensePathogenic05/30/202015 [9/0/6]0.02239 | p.G328R | chrX:g.100653375C>G | exon 6 | Missense | Pathogenic | 05/30/2020 | 15 [9/0/6] | 0.02239 |
ic.980A>Tp.Q327LchrX:g.100653377T>Aexon 6MissensePathogenic03/14/20201 [0/0/1]0.00559 | p.Q327L | chrX:g.100653377T>A | exon 6 | Missense | Pathogenic | 03/14/2020 | 1 [0/0/1] | 0.00559 |
ic.978G>Ap.K326KchrX:g.100653379C>Texon 6SilentBenign06/12/2020115 [102/0/13]0.55431 | p.K326K | chrX:g.100653379C>T | exon 6 | Silent | Benign | 06/12/2020 | 115 [102/0/13] | 0.55431 |
ic.973G>Ap.G325SchrX:g.100653384C>Texon 6MissensePathogenic03/16/20206 [3/0/3]0.03919 | p.G325S | chrX:g.100653384C>T | exon 6 | Missense | Pathogenic | 03/16/2020 | 6 [3/0/3] | 0.03919 |
ic.971T>Ap.L324XchrX:g.100653386A>Texon 6NonsensePathogenic03/28/20204 [3/0/1]0.00559 | p.L324X | chrX:g.100653386A>T | exon 6 | Nonsense | Pathogenic | 03/28/2020 | 4 [3/0/1] | 0.00559 |
ic.968C>Gp.P323RchrX:g.100653389G>Cexon 6MissenseUncertain06/17/20206 [5/0/1]0.00839 | p.P323R | chrX:g.100653389G>C | exon 6 | Missense | Uncertain | 06/17/2020 | 6 [5/0/1] | 0.00839 |
ic.967C>Ap.P323TchrX:g.100653390G>Texon 6MissenseUncertain06/11/202035 [29/0/6]0.14557 | p.P323T | chrX:g.100653390G>T | exon 6 | Missense | Uncertain | 06/11/2020 | 35 [29/0/6] | 0.14557 |
ic.966C>Ap.D322EchrX:g.100653391G>Texon 6MissensePathogenic05/30/20205 [2/0/3]0.02239 | p.D322E | chrX:g.100653391G>T | exon 6 | Missense | Pathogenic | 05/30/2020 | 5 [2/0/3] | 0.02239 |
ic.946_966delp.V316_D322delchrX:g.100653391_100653411delexon 6In-framePathogenic03/16/20202 [1/0/1]0.00280 | p.V316_D322del | chrX:g.100653391_100653411del | exon 6 | In-frame | Pathogenic | 03/16/2020 | 2 [1/0/1] | 0.00280 |
ic.963_964delinsCAp.Q321_D322delinsHNchrX:g.100653393_100653394delinsTGexon 6In-framePathogenic02/28/20203 [2/0/1]0.01119 | p.Q321_D322delinsHN | chrX:g.100653393_100653394delinsTG | exon 6 | In-frame | Pathogenic | 02/28/2020 | 3 [2/0/1] | 0.01119 |
ic.959A>Tp.N320IchrX:g.100653398T>Aexon 6MissensePathogenic06/08/20209 [7/0/2]0.01959 | p.N320I | chrX:g.100653398T>A | exon 6 | Missense | Pathogenic | 06/08/2020 | 9 [7/0/2] | 0.01959 |
ic.950T>Gp.I317SchrX:g.100653407A>Cexon 6MissensePathogenic05/30/20206 [5/0/1]0.02758 | p.I317S | chrX:g.100653407A>C | exon 6 | Missense | Pathogenic | 05/30/2020 | 6 [5/0/1] | 0.02758 |
ic.947T>Cp.V316AchrX:g.100653410A>Gexon 6MissenseLikely pathogenic06/09/20201 [1/0/0]0.00280 | p.V316A | chrX:g.100653410A>G | exon 6 | Missense | Likely pathogenic | 06/09/2020 | 1 [1/0/0] | 0.00280 |
ic.947dupp.I317Nfs*16chrX:g.100653410dupexon 6FrameshiftPathogenic05/30/20206 [4/0/2]0.01959 | p.I317Nfs*16 | chrX:g.100653410dup | exon 6 | Frameshift | Pathogenic | 05/30/2020 | 6 [4/0/2] | 0.01959 |
ic.946G>Ap.V316IchrX:g.100653411C>Texon 6MissenseUncertain06/08/20202 [1/0/1]0.01119 | p.V316I | chrX:g.100653411C>T | exon 6 | Missense | Uncertain | 06/08/2020 | 2 [1/0/1] | 0.01119 |
ic.946delp.V316XchrX:g.100653411delexon 6NonsensePathogenic05/30/20201 [1/0/0]0.00559 | p.V316X | chrX:g.100653411del | exon 6 | Nonsense | Pathogenic | 05/30/2020 | 1 [1/0/0] | 0.00559 |
ic.945C>Tp.D315DchrX:g.100653412G>Aexon 6SilentBenign04/24/202030 [22/0/8]0.12878 | p.D315D | chrX:g.100653412G>A | exon 6 | Silent | Benign | 04/24/2020 | 30 [22/0/8] | 0.12878 |
ic.937G>Tp.D313YchrX:g.100653420C>Aexon 6MissenseBenign06/11/20201526 [1031/9/486]7.27891 | p.D313Y | chrX:g.100653420C>A | exon 6 | Missense | Benign | 06/11/2020 | 1526 [1031/9/486] | 7.27891 |
ic.937G>Ap.D313NchrX:g.100653420C>Texon 6MissenseUncertain06/17/202014 [12/0/2]0.03639 | p.D313N | chrX:g.100653420C>T | exon 6 | Missense | Uncertain | 06/17/2020 | 14 [12/0/2] | 0.03639 |
ic.931C>Tp.L311FchrX:g.100653426G>Aexon 6MissensePathogenic06/08/20206 [4/0/2]0.01959 | p.L311F | chrX:g.100653426G>A | exon 6 | Missense | Pathogenic | 06/08/2020 | 6 [4/0/2] | 0.01959 |
ic.926C>Tp.A309VchrX:g.100653431G>Aexon 6MissenseUncertain06/15/20202 [1/0/1]0.00280 | p.A309V | chrX:g.100653431G>A | exon 6 | Missense | Uncertain | 06/15/2020 | 2 [1/0/1] | 0.00280 |
ic.920C>Tp.A307VchrX:g.100653437G>Aexon 6MissenseUncertain05/13/20207 [6/0/1]0.00280 | p.A307V | chrX:g.100653437G>A | exon 6 | Missense | Uncertain | 05/13/2020 | 7 [6/0/1] | 0.00280 |
ic.914delp.P305Lfs*12chrX:g.100653443delexon 6FrameshiftPathogenic03/16/20201 [1/0/0]0.01959 | p.P305Lfs*12 | chrX:g.100653443del | exon 6 | Frameshift | Pathogenic | 03/16/2020 | 1 [1/0/0] | 0.01959 |
ic.907A>Tp.I303FchrX:g.100653450T>Aexon 6MissensePathogenic03/16/20203 [0/0/3]0.00559 | p.I303F | chrX:g.100653450T>A | exon 6 | Missense | Pathogenic | 03/16/2020 | 3 [0/0/3] | 0.00559 |
ic.902G>Ap.R301QchrX:g.100653455C>Texon 6MissensePathogenic05/13/202032 [16/0/16]0.39474 | p.R301Q | chrX:g.100653455C>T | exon 6 | Missense | Pathogenic | 05/13/2020 | 32 [16/0/16] | 0.39474 |
ic.901C>Tp.R301XchrX:g.100653456G>Aexon 6NonsensePathogenic05/30/202022 [10/0/12]0.10638 | p.R301X | chrX:g.100653456G>A | exon 6 | Nonsense | Pathogenic | 05/30/2020 | 22 [10/0/12] | 0.10638 |
ic.894T>Cp.N298NchrX:g.100653463A>Gexon 6SilentBenign04/25/20204 [3/0/1]0.03359 | p.N298N | chrX:g.100653463A>G | exon 6 | Silent | Benign | 04/25/2020 | 4 [3/0/1] | 0.03359 |
ic.891dupp.N298XchrX:g.100653466dupexon 6NonsensePathogenic09/12/20191 [0/0/1]0.01679 | p.N298X | chrX:g.100653466dup | exon 6 | Nonsense | Pathogenic | 09/12/2019 | 1 [0/0/1] | 0.01679 |
ic.890C>Gp.S297CchrX:g.100653467G>Cexon 6MissensePathogenic05/30/20203 [1/0/2]0.00559 | p.S297C | chrX:g.100653467G>C | exon 6 | Missense | Pathogenic | 05/30/2020 | 3 [1/0/2] | 0.00559 |
ic.887T>Cp.M296TchrX:g.100653470A>Gexon 6MissensePathogenic05/30/20205 [2/0/3]0.01679 | p.M296T | chrX:g.100653470A>G | exon 6 | Missense | Pathogenic | 05/30/2020 | 5 [2/0/3] | 0.01679 |
ic.877C>Tp.P293SchrX:g.100653480G>Aexon 6MissensePathogenic06/08/20202 [1/0/1]0.00919 | p.P293S | chrX:g.100653480G>A | exon 6 | Missense | Pathogenic | 06/08/2020 | 2 [1/0/1] | 0.00919 |
ic.875C>Tp.A292VchrX:g.100653482G>Aexon 6MissensePathogenic06/08/20203 [1/0/2]0.00839 | p.A292V | chrX:g.100653482G>A | exon 6 | Missense | Pathogenic | 06/08/2020 | 3 [1/0/2] | 0.00839 |
ic.871G>Ap.A291TchrX:g.100653486C>Texon 6MissensePathogenic05/30/20207 [5/0/2]0.01679 | p.A291T | chrX:g.100653486C>T | exon 6 | Missense | Pathogenic | 05/30/2020 | 7 [5/0/2] | 0.01679 |
ic.870G>Cp.M290IchrX:g.100653487C>Gexon 6MissensePathogenic06/09/202040 [22/0/18]0.09238 | p.M290I | chrX:g.100653487C>G | exon 6 | Missense | Pathogenic | 06/09/2020 | 40 [22/0/18] | 0.09238 |
ic.868A>Cp.M290LchrX:g.100653489T>Gexon 6MissensePathogenic06/15/20207 [2/0/5]0.03079 | p.M290L | chrX:g.100653489T>G | exon 6 | Missense | Pathogenic | 06/15/2020 | 7 [2/0/5] | 0.03079 |
ic.865A>Gp.I289VchrX:g.100653492T>Cexon 6MissenseBenign06/17/202023 [19/0/4]0.03359 | p.I289V | chrX:g.100653492T>C | exon 6 | Missense | Benign | 06/17/2020 | 23 [19/0/4] | 0.03359 |
ic.863C>Ap.A288DchrX:g.100653494G>Texon 6MissensePathogenic06/02/20202 [1/0/1]0.02239 | p.A288D | chrX:g.100653494G>T | exon 6 | Missense | Pathogenic | 06/02/2020 | 2 [1/0/1] | 0.02239 |
ic.861G>Ap.W287XchrX:g.100653496C>Texon 6NonsensePathogenic06/02/20205 [4/0/1]0.02239 | p.W287X | chrX:g.100653496C>T | exon 6 | Nonsense | Pathogenic | 06/02/2020 | 5 [4/0/1] | 0.02239 |
ic.858C>Tp.L286LchrX:g.100653499G>Aexon 6SilentLikely benign09/30/201911 [9/0/2]0.04759 | p.L286L | chrX:g.100653499G>A | exon 6 | Silent | Likely benign | 09/30/2019 | 11 [9/0/2] | 0.04759 |
ic.838_849delp.Q280_Q283delchrX:g.100653508_100653519delexon 6In-framePathogenic03/28/20204 [2/0/2]0.01119 | p.Q280_Q283del | chrX:g.100653508_100653519del | exon 6 | In-frame | Pathogenic | 03/28/2020 | 4 [2/0/2] | 0.01119 |
ic.826A>Gp.S276GchrX:g.100653531T>Cexon 6MissensePathogenic06/02/202016 [10/0/6]0.03639 | p.S276G | chrX:g.100653531T>C | exon 6 | Missense | Pathogenic | 06/02/2020 | 16 [10/0/6] | 0.03639 |
ic.824T>Ap.L275HchrX:g.100653533A>Texon 6MissensePathogenic06/02/20201 [1/0/0]0.00459 | p.L275H | chrX:g.100653533A>T | exon 6 | Missense | Pathogenic | 06/02/2020 | 1 [1/0/0] | 0.00459 |
ic.812G>Cp.G271AchrX:g.100653545C>Gexon 6MissensePathogenic02/21/202019 [10/0/9]0.02239 | p.G271A | chrX:g.100653545C>G | exon 6 | Missense | Pathogenic | 02/21/2020 | 19 [10/0/9] | 0.02239 |
ic.806T>Gp.V269GchrX:g.100653551A>Cexon 6MissensePathogenic06/02/20205 [2/0/3]0.00839 | p.V269G | chrX:g.100653551A>C | exon 6 | Missense | Pathogenic | 06/02/2020 | 5 [2/0/3] | 0.00839 |
ic.806T>Cp.V269AchrX:g.100653551A>Gexon 6MissensePathogenic06/02/20204 [3/0/1]0.01679 | p.V269A | chrX:g.100653551A>G | exon 6 | Missense | Pathogenic | 06/02/2020 | 4 [3/0/1] | 0.01679 |
ic.803_806delp.L268XchrX:g.100653551_100653554delexon 6NonsensePathogenic06/02/202016 [10/0/6]0.04199 | p.L268X | chrX:g.100653551_100653554del | exon 6 | Nonsense | Pathogenic | 06/02/2020 | 16 [10/0/6] | 0.04199 |
ic.805G>Ap.V269MchrX:g.100653552C>Texon 6MissensePathogenic06/02/202066 [45/0/21]0.09238 | p.V269M | chrX:g.100653552C>T | exon 6 | Missense | Pathogenic | 06/02/2020 | 66 [45/0/21] | 0.09238 |
ic.802-3_802-2delchrX:g.100653557_100653558delintron 5Splicing mutationPathogenic06/02/20207 [3/0/4]0.06439 | | chrX:g.100653557_100653558del | intron 5 | Splicing mutation | Pathogenic | 06/02/2020 | 7 [3/0/4] | 0.06439 |
ic.802-6T>AchrX:g.100653561A>Tintron 5Splicing mutationUncertain03/06/20202 [2/0/0]0.00559 | | chrX:g.100653561A>T | intron 5 | Splicing mutation | Uncertain | 03/06/2020 | 2 [2/0/0] | 0.00559 |
ic.802-30_802-29delchrX:g.100653584_100653585delintron 5Effect unknownLikely benign04/24/202020 [18/0/2]0.08165 | | chrX:g.100653584_100653585del | intron 5 | Effect unknown | Likely benign | 04/24/2020 | 20 [18/0/2] | 0.08165 |
ic.802-42T>CchrX:g.100653597A>Gintron 5Effect unknownUncertain04/14/20201 [1/0/0]0.02534 | | chrX:g.100653597A>G | intron 5 | Effect unknown | Uncertain | 04/14/2020 | 1 [1/0/0] | 0.02534 |
ic.802-84A>GchrX:g.100653639T>Cintron 5Effect unknownUncertain10/02/20191 [1/0/0]0.00459 | | chrX:g.100653639T>C | intron 5 | Effect unknown | Uncertain | 10/02/2019 | 1 [1/0/0] | 0.00459 |
ic.802-101A>GchrX:g.100653656T>Cintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459 | | chrX:g.100653656T>C | intron 5 | Effect unknown | Uncertain | 12/09/2019 | 1 [1/0/0] | 0.00459 |
ic.801+102T>CchrX:g.100653671A>Gintron 5Effect unknownLikely benign04/25/20201 [0/0/1]0.00459 | | chrX:g.100653671A>G | intron 5 | Effect unknown | Likely benign | 04/25/2020 | 1 [0/0/1] | 0.00459 |
ic.801+84T>GchrX:g.100653689A>Cintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459 | | chrX:g.100653689A>C | intron 5 | Effect unknown | Uncertain | 12/09/2019 | 1 [1/0/0] | 0.00459 |
ic.801+75A>GchrX:g.100653698T>Cintron 5Effect unknownUncertain03/05/20201 [1/0/0]0.00459 | | chrX:g.100653698T>C | intron 5 | Effect unknown | Uncertain | 03/05/2020 | 1 [1/0/0] | 0.00459 |
ic.801+74C>AchrX:g.100653699G>Tintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459 | | chrX:g.100653699G>T | intron 5 | Effect unknown | Uncertain | 12/09/2019 | 1 [1/0/0] | 0.00459 |
ic.801+72T>GchrX:g.100653701A>Cintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459 | | chrX:g.100653701A>C | intron 5 | Effect unknown | Uncertain | 12/09/2019 | 1 [1/0/0] | 0.00459 |
ic.801+66G>AchrX:g.100653707C>Tintron 5Effect unknownLikely benign04/25/20204 [3/0/1]0.01838 | | chrX:g.100653707C>T | intron 5 | Effect unknown | Likely benign | 04/25/2020 | 4 [3/0/1] | 0.01838 |
ic.801+64A>GchrX:g.100653709T>Cintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459 | | chrX:g.100653709T>C | intron 5 | Effect unknown | Uncertain | 12/09/2019 | 1 [1/0/0] | 0.00459 |
ic.801+42C>TchrX:g.100653731G>Aintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459 | | chrX:g.100653731G>A | intron 5 | Effect unknown | Uncertain | 12/09/2019 | 1 [1/0/0] | 0.00459 |
ic.801+36G>AchrX:g.100653737C>Tintron 5Effect unknownUncertain12/09/201934 [27/0/7]0.14922 | | chrX:g.100653737C>T | intron 5 | Effect unknown | Uncertain | 12/09/2019 | 34 [27/0/7] | 0.14922 |
ic.801+14C>TchrX:g.100653759G>Aintron 5Effect unknownBenign04/24/20203 [3/0/0]0.06999 | | chrX:g.100653759G>A | intron 5 | Effect unknown | Benign | 04/24/2020 | 3 [3/0/0] | 0.06999 |
ic.801+11G>CchrX:g.100653762C>Gintron 5Effect unknownLikely benign04/25/20201 [0/0/1]0.03079 | | chrX:g.100653762C>G | intron 5 | Effect unknown | Likely benign | 04/25/2020 | 1 [0/0/1] | 0.03079 |
ic.801G>Ap.M267IchrX:g.100653773C>Texon 5MissensePathogenic06/02/20206 [5/0/1]0.00280 | p.M267I | chrX:g.100653773C>T | exon 5 | Missense | Pathogenic | 06/02/2020 | 6 [5/0/1] | 0.00280 |
ic.800T>Cp.M267TchrX:g.100653774A>Gexon 5MissensePathogenic06/15/202011 [5/0/6]0.03919 | p.M267T | chrX:g.100653774A>G | exon 5 | Missense | Pathogenic | 06/15/2020 | 11 [5/0/6] | 0.03919 |
ic.790G>Tp.D264YchrX:g.100653784C>Aexon 5MissensePathogenic06/02/202036 [21/1/14]0.04199 | p.D264Y | chrX:g.100653784C>A | exon 5 | Missense | Pathogenic | 06/02/2020 | 36 [21/1/14] | 0.04199 |
ic.788A>Gp.N263SchrX:g.100653786T>Cexon 5MissensePathogenic06/02/20203 [2/0/1]0.01379 | p.N263S | chrX:g.100653786T>C | exon 5 | Missense | Pathogenic | 06/02/2020 | 3 [2/0/1] | 0.01379 |
ic.786G>Cp.W262CchrX:g.100653788C>Gexon 5MissensePathogenic06/02/20203 [3/0/0]0.01379 | p.W262C | chrX:g.100653788C>G | exon 5 | Missense | Pathogenic | 06/02/2020 | 3 [3/0/0] | 0.01379 |
ic.785G>Tp.W262LchrX:g.100653789C>Aexon 5MissensePathogenic06/02/20201 [1/0/0]0.00280 | p.W262L | chrX:g.100653789C>A | exon 5 | Missense | Pathogenic | 06/02/2020 | 1 [1/0/0] | 0.00280 |
ic.785G>Ap.W262XchrX:g.100653789C>Texon 5NonsensePathogenic06/02/20207 [5/0/2]0.01399 | p.W262X | chrX:g.100653789C>T | exon 5 | Nonsense | Pathogenic | 06/02/2020 | 7 [5/0/2] | 0.01399 |
ic.784T>Cp.W262RchrX:g.100653790A>Gexon 5MissensePathogenic06/02/20201 [1/0/0]0.00280 | p.W262R | chrX:g.100653790A>G | exon 5 | Missense | Pathogenic | 06/02/2020 | 1 [1/0/0] | 0.00280 |
ic.782G>Tp.G261VchrX:g.100653792C>Aexon 5MissensePathogenic06/02/20204 [2/0/2]0.03919 | p.G261V | chrX:g.100653792C>A | exon 5 | Missense | Pathogenic | 06/02/2020 | 4 [2/0/2] | 0.03919 |
ic.782dupp.W262Lfs*3chrX:g.100653792dupexon 5FrameshiftPathogenic06/02/20201 [0/0/1]0.00559 | p.W262Lfs*3 | chrX:g.100653792dup | exon 5 | Frameshift | Pathogenic | 06/02/2020 | 1 [0/0/1] | 0.00559 |
ic.776C>Tp.P259LchrX:g.100653798G>Aexon 5MissensePathogenic06/02/20201 [0/0/1]0.00839 | p.P259L | chrX:g.100653798G>A | exon 5 | Missense | Pathogenic | 06/02/2020 | 1 [0/0/1] | 0.00839 |
ic.774_775delp.P259Rfs*5chrX:g.100653799_100653800delexon 5FrameshiftPathogenic03/04/20201 [1/0/0]0.00459 | p.P259Rfs*5 | chrX:g.100653799_100653800del | exon 5 | Frameshift | Pathogenic | 03/04/2020 | 1 [1/0/0] | 0.00459 |
ic.761T>Cp.V254AchrX:g.100653813A>Gexon 5MissensePathogenic06/15/20202 [1/0/1]0.01679 | p.V254A | chrX:g.100653813A>G | exon 5 | Missense | Pathogenic | 06/15/2020 | 2 [1/0/1] | 0.01679 |
ic.758T>Cp.I253TchrX:g.100653816A>Gexon 5MissensePathogenic06/08/20207 [4/0/3]0.02519 | p.I253T | chrX:g.100653816A>G | exon 5 | Missense | Pathogenic | 06/08/2020 | 7 [4/0/3] | 0.02519 |
ic.755G>Cp.R252TchrX:g.100653819C>Gexon 5MissenseBenign06/08/202017 [9/0/8]0.02799 | p.R252T | chrX:g.100653819C>G | exon 5 | Missense | Benign | 06/08/2020 | 17 [9/0/8] | 0.02799 |
ic.749A>Cp.Q250PchrX:g.100653825T>Gexon 5MissensePathogenic06/02/20209 [5/0/4]0.00559 | p.Q250P | chrX:g.100653825T>G | exon 5 | Missense | Pathogenic | 06/02/2020 | 9 [5/0/4] | 0.00559 |
ic.747C>Ap.N249KchrX:g.100653827G>Texon 5MissensePathogenic06/08/20206 [4/0/2]0.01959 | p.N249K | chrX:g.100653827G>T | exon 5 | Missense | Pathogenic | 06/08/2020 | 6 [4/0/2] | 0.01959 |
ic.744_745delp.F248Lfs*7chrX:g.100653829_100653830delexon 5FrameshiftPathogenic06/02/20203 [3/0/0]0.01119 | p.F248Lfs*7 | chrX:g.100653829_100653830del | exon 5 | Frameshift | Pathogenic | 06/02/2020 | 3 [3/0/0] | 0.01119 |
ic.739T>Cp.S247PchrX:g.100653835A>Gexon 5MissensePathogenic06/02/20204 [3/0/1]0.01679 | p.S247P | chrX:g.100653835A>G | exon 5 | Missense | Pathogenic | 06/02/2020 | 4 [3/0/1] | 0.01679 |
ic.729G>Cp.L243FchrX:g.100653845C>Gexon 5MissensePathogenic06/02/20203 [3/0/0]0.00280 | p.L243F | chrX:g.100653845C>G | exon 5 | Missense | Pathogenic | 06/02/2020 | 3 [3/0/0] | 0.00280 |
ic.724A>Gp.I242VchrX:g.100653850T>Cexon 5MissensePathogenic06/05/20205 [2/0/3]0.01399 | p.I242V | chrX:g.100653850T>C | exon 5 | Missense | Pathogenic | 06/05/2020 | 5 [2/0/3] | 0.01399 |
ic.723dupp.I242Yfs*8chrX:g.100653851dupexon 5FrameshiftPathogenic03/30/20203 [1/0/2]0.01679 | p.I242Yfs*8 | chrX:g.100653851dup | exon 5 | Frameshift | Pathogenic | 03/30/2020 | 3 [1/0/2] | 0.01679 |
ic.718_719delp.K240Efs*9chrX:g.100653855_100653856delexon 5FrameshiftPathogenic06/02/202023 [12/0/11]0.10358 | p.K240Efs*9 | chrX:g.100653855_100653856del | exon 5 | Frameshift | Pathogenic | 06/02/2020 | 23 [12/0/11] | 0.10358 |
ic.714_715insCCAAGATp.I239Pfs*13chrX:g.100653859_100653860insATCTTGGexon 5FrameshiftPathogenic01/24/20201 [1/0/0]0.00280 | p.I239Pfs*13 | chrX:g.100653859_100653860insATCTTGG | exon 5 | Frameshift | Pathogenic | 01/24/2020 | 1 [1/0/0] | 0.00280 |
ic.713G>Ap.S238NchrX:g.100653861C>Texon 5MissensePathogenic06/02/202079 [46/1/32]0.32195 | p.S238N | chrX:g.100653861C>T | exon 5 | Missense | Pathogenic | 06/02/2020 | 79 [46/1/32] | 0.32195 |
ic.708G>Cp.W236CchrX:g.100653866C>Gexon 5MissensePathogenic03/27/20206 [3/0/3]0.01399 | p.W236C | chrX:g.100653866C>G | exon 5 | Missense | Pathogenic | 03/27/2020 | 6 [3/0/3] | 0.01399 |
ic.675_694delp.W226XchrX:g.100653880_100653899delexon 5NonsensePathogenic06/06/20202 [1/0/1]0.00280 | p.W226X | chrX:g.100653880_100653899del | exon 5 | Nonsense | Pathogenic | 06/06/2020 | 2 [1/0/1] | 0.00280 |
ic.680G>Ap.R227QchrX:g.100653894C>Texon 5MissensePathogenic03/27/202036 [22/0/14]0.11198 | p.R227Q | chrX:g.100653894C>T | exon 5 | Missense | Pathogenic | 03/27/2020 | 36 [22/0/14] | 0.11198 |
ic.679C>Tp.R227XchrX:g.100653895G>Aexon 5NonsensePathogenic03/28/202047 [27/0/20]0.18757 | p.R227X | chrX:g.100653895G>A | exon 5 | Nonsense | Pathogenic | 03/28/2020 | 47 [27/0/20] | 0.18757 |
ic.671A>Gp.N224SchrX:g.100653903T>Cexon 5MissensePathogenic06/02/20204 [3/0/1]0.02799 | p.N224S | chrX:g.100653903T>C | exon 5 | Missense | Pathogenic | 06/02/2020 | 4 [3/0/1] | 0.02799 |
ic.668G>Ap.C223YchrX:g.100653906C>Texon 5MissensePathogenic03/27/20203 [2/0/1]0.02239 | p.C223Y | chrX:g.100653906C>T | exon 5 | Missense | Pathogenic | 03/27/2020 | 3 [2/0/1] | 0.02239 |
ic.664T>Gp.Y222DchrX:g.100653910A>Cexon 5MissensePathogenic06/12/20203 [3/0/0]0.00280 | p.Y222D | chrX:g.100653910A>C | exon 5 | Missense | Pathogenic | 06/12/2020 | 3 [3/0/0] | 0.00280 |
ic.658C>Tp.R220XchrX:g.100653916G>Aexon 5NonsensePathogenic03/28/202046 [21/0/25]0.17357 | p.R220X | chrX:g.100653916G>A | exon 5 | Nonsense | Pathogenic | 03/28/2020 | 46 [21/0/25] | 0.17357 |
ic.657C>Gp.I219MchrX:g.100653917G>Cexon 5MissenseLikely pathogenic06/08/20201 [0/0/1]0.00280 | p.I219M | chrX:g.100653917G>C | exon 5 | Missense | Likely pathogenic | 06/08/2020 | 1 [0/0/1] | 0.00280 |
ic.648T>Ap.Y216XchrX:g.100653926A>Texon 5NonsensePathogenic03/28/20203 [2/0/1]0.01379 | p.Y216X | chrX:g.100653926A>T | exon 5 | Nonsense | Pathogenic | 03/28/2020 | 3 [2/0/1] | 0.01379 |
ic.646_648delp.Y216delchrX:g.100653926_100653928delexon 5In-framePathogenic03/09/20202 [2/0/0]0.00919 | p.Y216del | chrX:g.100653926_100653928del | exon 5 | In-frame | Pathogenic | 03/09/2020 | 2 [2/0/0] | 0.00919 |
ic.647A>Gp.Y216CchrX:g.100653927T>Cexon 5MissensePathogenic06/08/20204 [2/0/2]0.03079 | p.Y216C | chrX:g.100653927T>C | exon 5 | Missense | Pathogenic | 06/08/2020 | 4 [2/0/2] | 0.03079 |
ic.644A>Gp.N215SchrX:g.100653930T>Cexon 5MissensePathogenic05/30/2020181 [95/2/84]1.57616 | p.N215S | chrX:g.100653930T>C | exon 5 | Missense | Pathogenic | 05/30/2020 | 181 [95/2/84] | 1.57616 |
ic.641C>Tp.P214LchrX:g.100653933G>Aexon 5MissensePathogenic06/02/20209 [8/0/1]0.00839 | p.P214L | chrX:g.100653933G>A | exon 5 | Missense | Pathogenic | 06/02/2020 | 9 [8/0/1] | 0.00839 |
ic.640-3C>GchrX:g.100653937G>Cintron 4Splicing mutationPathogenic03/28/20205 [0/0/5]0.00559 | | chrX:g.100653937G>C | intron 4 | Splicing mutation | Pathogenic | 03/28/2020 | 5 [0/0/5] | 0.00559 |
ic.640-16A>GchrX:g.100653950T>Cintron 4Effect unknownBenign06/17/202022381 [15205/1262/5914]145.13880 | | chrX:g.100653950T>C | intron 4 | Effect unknown | Benign | 06/17/2020 | 22381 [15205/1262/5914] | 145.13880 |
ic.640-57T>CchrX:g.100653991A>Gintron 4Effect unknownUncertain10/02/20193 [3/0/0]0.00721 | | chrX:g.100653991A>G | intron 4 | Effect unknown | Uncertain | 10/02/2019 | 3 [3/0/0] | 0.00721 |
ic.640-61_640-60delchrX:g.100653994_100653995delintron 4Effect unknownLikely benign05/13/202012 [8/0/4]0.01443 | | chrX:g.100653994_100653995del | intron 4 | Effect unknown | Likely benign | 05/13/2020 | 12 [8/0/4] | 0.01443 |
ic.640-64delchrX:g.100653998del |