TP53 tumor protein p53

Annotation transcript: NM_000546.6

5321 unique variant annotations were identified in 8871 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
17-7571752-T-G c.*1175A>C - 3-UTRSNV 11/11 - 103
17-7571857-G-A c.*1070C>T - 3-UTRSNV 11/11 - 3
17-7571857-G-C c.*1070C>G - 3-UTRSNV 11/11 - 3
17-7571991-T-C c.*936A>G - 3-UTRSNV 11/11 - 1
17-7572041-C-T c.*886G>A - 3-UTRSNV 11/11 - 2
17-7572072-G-A c.*855C>T - 3-UTRSNV 11/11 - 1
17-7572101-C-T c.*826G>A - 3-UTRSNV 11/11 - 11
17-7572126-C-CA c.*800dup - 3-UTRInsertion 11/11 - 1
17-7572293-C-G c.*634G>C - 3-UTRSNV 11/11 - 1
17-7572314-G-C c.*613C>G - 3-UTRSNV 11/11 - 1
17-7572314-G-T c.*613C>A - 3-UTRSNV 11/11 - 1
17-7572392-GA-AG c.*534_*535delinsCT - 3-UTRBlockSubstitution 11/11 - 1
17-7572393-A-G c.*534T>C - 3-UTRSNV 11/11 - 1
17-7572413-A-G c.*514T>C - 3-UTRSNV 11/11 - 2
17-7572436-C-T c.*491G>A - 3-UTRSNV 11/11 - 2
17-7572442-C-T c.*485G>A - 3-UTRSNV 11/11 - 8
17-7572599-C-T c.*328G>A - 3-UTRSNV 11/11 - 2
17-7572613-C-T c.*314G>A - 3-UTRSNV 11/11 - 1
17-7572618-C-A c.*309G>T - 3-UTRSNV 11/11 - 1
17-7572722-C-T c.*205G>A - 3-UTRSNV 11/11 - 2
17-7572822-G-A c.*105C>T - 3-UTRSNV 11/11 - 1
17-7572890-T-A c.*37A>T - 3-UTRSNV 11/11 - 3
17-7572890-T-C c.*37A>G - 3-UTRSNV 11/11 - 3
17-7572918-T-G c.*9A>C - 3-UTRSNV 11/11 - 1
17-7572927-GTCAGTCTGAGTCAGGCCCTTCTGTCTTGAACATGAGTTTTTTATGGCGGGAGGTAGACT-G c.1124_1182del p.Q375Pfs*76 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStopDeletion,CdsStartDeletion 11/11 - 2
17-7572928-TC-T c.1181del p.*394Yfs*28 CdsStopDeletion 11/11 - 1
17-7572929-A-G c.1180T>C p.*394Rext*9 Missense 11/11 - 1
17-7572929-CA-C c.1180del p.*394Dfs*28 CdsStopDeletion 11/11 - 1
17-7572931-T-TC c.1177dup p.D393Gfs*78 Frameshift 11/11 - 1
17-7572930-GTC-G c.1177_1178del p.D393Lfs*77 Frameshift 11/11 - 1
17-7572932-C-CT c.1176dup p.D393Rfs*78 Frameshift 11/11 - 2
17-7572933-TGA-GTC c.1174_1176delinsGAC p.S392D Missense 11/11 - 4
17-7572934-G-C c.1175C>G p.S392* Nonsense 11/11 - 1
17-7572934-G-T c.1175C>A p.S392* Nonsense 11/11 - 2
17-7572934-GA-TC c.1174_1175inv p.S392E Missense 11/11 - 7
17-7572934-G-A c.1175C>T p.S392L Missense 11/11 - 1
17-7572935-A-G c.1174T>C p.S392P Missense 11/11 - 2
17-7572935-A-C c.1174T>G p.S392A Missense 11/11 - 31
17-7572937-T-G c.1172A>C p.D391A Missense 11/11 - 1
17-7572935-AGTCAG-A c.1169_1173del p.P390Lfs*79 Frameshift 11/11 - 1
17-7572938-TC-T c.1171del p.D391Tfs*31 Frameshift 11/11 - 1
17-7572938-C-A c.1171G>T p.D391Y Missense 11/11 - 1
17-7572938-C-T c.1171G>A p.D391N Missense 11/11 - 1
17-7572941-G-T c.1168C>A p.P390T Missense 11/11 - 1
17-7572941-G-A c.1168C>T p.P390S Missense 11/11 - 1
17-7572942-C-A c.1167G>T p.G389= Synonymous 11/11 - 2
17-7572942-C-T c.1167G>A p.G389= Synonymous 11/11 - 2
17-7572942-C-G c.1167G>C p.G389= Synonymous 11/11 - 2
17-7572943-C-T c.1166G>A p.G389E Missense 11/11 - 6
17-7572943-CCCTTCTG-C c.1160_1166del p.T387Sfs*33 Frameshift 11/11 - 1
17-7572944-C-T c.1165G>A p.G389R Missense 11/11 - 3
17-7572944-C-G c.1165G>C p.G389R Missense 11/11 - 3
17-7572944-C-A c.1165G>T p.G389W Missense 11/11 - 4
17-7572942-CCCTTCTGT-C c.1159_1166del p.T387Afs*2 Frameshift 11/11 - 1
17-7572946-T-G c.1163A>C p.E388A Missense 11/11 - 5
17-7572946-T-TA c.1162_1163insT p.E388Vfs*4 Frameshift 11/11 - 1
17-7572947-C-T c.1162G>A p.E388K Missense 11/11 - 1
17-7572949-G-C c.1160C>G p.T387R Missense 11/11 - 2
17-7572950-T-A c.1159A>T p.T387S Missense 11/11 - 1
17-7572950-T-C c.1159A>G p.T387A Missense 11/11 - 2
17-7572951-C-G c.1158G>C p.K386N Missense 11/11 - 1
17-7572951-C-A c.1158G>T p.K386N Missense 11/11 - 1
17-7572952-T-C c.1157A>G p.K386R Missense 11/11 - 37
17-7572952-T-A c.1157A>T p.K386M Missense 11/11 - 1
17-7572952-TT-GC c.1156_1157delinsGC p.K386A Missense 11/11 - 1
17-7572954-TG-T c.1155del p.F385Lfs*37 Frameshift 11/11 - 1
17-7572953-T-TG c.1155dup p.K386Qfs*6 Frameshift 11/11 - 1
17-7572955-AA-GC c.1153_1154delinsGC p.F385A Missense 11/11 - 2
17-7572954-GA-G c.1154del p.F385Sfs*37 Frameshift 11/11 - 1
17-7572956-A-C c.1153T>G p.F385V Missense 11/11 - 1
17-7572957-C-G c.1152G>C p.M384I Missense 11/11 - 1
17-7572957-C-T c.1152G>A p.M384I Missense 11/11 - 1
17-7572957-C-A c.1152G>T p.M384I Missense 11/11 - 1
17-7572958-A-G c.1151T>C p.M384T Missense 11/11 - 2
17-7572959-AT-A c.1150del p.M384Cfs*38 Frameshift 11/11 - 1
17-7572959-T-C c.1150A>G p.M384V Missense 11/11 - 1
17-7572960-G-T c.1149C>A p.L383= Synonymous 11/11 - 3
17-7572961-A-T c.1148T>A p.L383H Missense 11/11 - 2
17-7572961-AG-GC c.1147_1148delinsGC p.L383A Missense 11/11 - 2
17-7572962-AG-A c.1147del p.L383Sfs*39 Frameshift 11/11 - 1
17-7572962-G-A c.1147C>T p.L383F Missense 11/11 - 2
17-7572959-TGAGTTTTTTATGGCGG-T c.1134_1149del p.R379Cfs*38 Frameshift 11/11 - 1
17-7572963-T-G c.1146A>C p.K382N Missense 11/11 - 1
17-7572963-T-A c.1146A>T p.K382N Missense 11/11 - 1
17-7572964-T-C c.1145A>G p.K382R Missense 11/11 - 33
17-7572964-T-G c.1145A>C p.K382T Missense 11/11 - 2
17-7572964-TT-GC c.1144_1145delinsGC p.K382A Missense 11/11 - 4
17-7572964-TT-GG c.1144_1145delinsCC p.K382P Missense 11/11 - 1
17-7572965-T-G c.1144A>C p.K382Q Missense 11/11 - 7
17-7572965-T-TA c.1143_1144insT p.K382* Nonsense 11/11 - 4
17-7572966-T-G c.1143A>C p.K381N Missense 11/11 - 1
17-7572966-T-A c.1143A>T p.K381N Missense 11/11 - 1
17-7572967-T-C c.1142A>G p.K381R Missense 11/11 - 11
17-7572967-TT-GC c.1141_1142delinsGC p.K381A Missense 11/11 - 4
17-7572967-T-G c.1142A>C p.K381T Missense 11/11 - 1
17-7572968-T-C c.1141A>G p.K381E Missense 11/11 - 1
17-7572962-GT-G c.1146del p.K382Nfs*40 Frameshift 11/11 - 15
17-7572968-T-G c.1141A>C p.K381Q Missense 11/11 - 3
17-7572962-G-GT c.1146dup p.L383Tfs*9 Frameshift 11/11 - 1
17-7572969-TATGGCGGGAGGTAGAC-T c.1125_1140del p.S376Kfs*41 Frameshift 11/11 - 1
17-7572969-A-T c.1140T>A p.H380Q Missense 11/11 - 1
17-7572969-A-C c.1140T>G p.H380Q Missense 11/11 - 1
17-7572969-ATG-CCA c.1138_1140delinsTGG p.H380W Missense 11/11 - 1
17-7572971-G-A c.1138C>T p.H380Y Missense 11/11 - 1
17-7572972-GCG-CCA c.1135_1137delinsTGG p.R379W Missense 11/11 - 1
17-7572970-TG-T c.1138del p.H380Ifs*42 Frameshift 11/11 - 1
17-7572972-GC-TT c.1136_1137delinsAA p.R379Q Missense 11/11 - 1
17-7572973-CG-AT c.1135_1136delinsAT p.R379I Missense 11/11 - 1
17-7572973-C-G c.1136G>C p.R379P Missense 11/11 - 2
17-7572973-C-T c.1136G>A p.R379H Missense 11/11 - 6
17-7572973-C-A c.1136G>T p.R379L Missense 11/11 - 1
17-7572973-CG-GC c.1135_1136delinsGC p.R379A Missense 11/11 - 1
17-7572974-G-A c.1135C>T p.R379C Missense 11/11 - 4
17-7572974-G-C c.1135C>G p.R379G Missense 11/11 - 1
17-7572975-GGA-CTC c.1132_1134delinsGAG p.S378E Missense 11/11 - 1
17-7572976-G-A c.1133C>T p.S378F Missense 11/11 - 1
17-7572973-CG-C c.1135del p.R379Afs*43 Frameshift 11/11 - 1
17-7572976-G-T c.1133C>A p.S378Y Missense 11/11 - 1
17-7572977-A-C c.1132T>G p.S378A Missense 11/11 - 7
17-7572977-A-AC c.1131_1132insG p.S378Vfs*4 Frameshift 11/11 - 1
17-7572977-A-G c.1132T>C p.S378P Missense 11/11 - 3
17-7572980-T-A c.1129A>T p.T377S Missense 11/11 - 1
17-7572979-G-A c.1130C>T p.T377I Missense 11/11 - 1
17-7572980-T-G c.1129A>C p.T377P Missense 11/11 - 7
17-7572980-T-C c.1129A>G p.T377A Missense 11/11 - 6
17-7572982-G-A c.1127C>T p.S376F Missense 11/11 - 2
17-7572982-G-C c.1127C>G p.S376C Missense 11/11 - 1
17-7572983-A-C c.1126T>G p.S376A Missense 11/11 - 8
17-7572985-T-C c.1124A>G p.Q375R Missense 11/11 - 2
17-7572986-G-A c.1123C>T p.Q375* Nonsense 11/11 - 11
17-7572986-G-T c.1123C>A p.Q375K Missense 11/11 - 2
17-7572988-CC-TT c.1120_1121delinsAA p.G374N Missense 11/11 - 1
17-7572988-CC-GT c.1120_1121delinsAC p.G374T Missense 11/11 - 1
17-7572989-C-G c.1120G>C p.G374R Missense 11/11 - 3
17-7572989-C-A c.1120G>T p.G374C Missense 11/11 - 1
17-7572989-C-T c.1120G>A p.G374S Missense 11/11 - 1
17-7572987-AC-A c.1121del p.G374Vfs*48 Frameshift 11/11 - 3
17-7572991-T-C c.1118A>G p.K373R Missense 11/11 - 21
17-7572992-T-G c.1117A>C p.K373Q Missense 11/11 - 5
17-7572992-T-TA c.1116_1117insT p.K373* Nonsense 11/11 - 2
17-7572992-T-A c.1117A>T p.K373* Nonsense 11/11 - 2
17-7572994-T-C c.1115A>G p.K372R Missense 11/11 - 10
17-7572994-T-G c.1115A>C p.K372T Missense 11/11 - 1
17-7572990-CT-C c.1118del p.K373Rfs*49 Frameshift 11/11 - 6
17-7572995-TGGAC-GTTT c.1110_1114delinsAAAC p.S371Nfs*51 Frameshift 11/11 - 1
17-7572995-T-G c.1114A>C p.K372Q Missense 11/11 - 1
17-7572996-G-T c.1113C>A p.S371= Synonymous 11/11 - 2
17-7572996-G-C c.1113C>G p.S371= Synonymous 11/11 - 1
17-7572996-G-A c.1113C>T p.S371= Synonymous 11/11 - 1
17-7572996-GG-TT c.1112_1113delinsAA p.S371* Nonsense 11/11 - 1
17-7572997-GA-AG c.1111_1112delinsCT p.S371L Missense 11/11 - 2
17-7572997-G-A c.1112C>T p.S371F Missense 11/11 - 3
17-7572997-G-C c.1112C>G p.S371C Missense 11/11 - 1
17-7572995-T-TG c.1113dup p.K372Qfs*10 Frameshift 11/11 - 1
17-7572998-A-C c.1111T>G p.S371A Missense 11/11 - 5
17-7572999-CTT-ATA c.1108_1110delinsTAT p.K370Y Missense 11/11 - 1
17-7572999-CTT-ACA c.1108_1110delinsTGT p.K370C Missense 11/11 - 1
17-7572999-C-T c.1110G>A p.K370= Synonymous 11/11 - 1
17-7573000-T-C c.1109A>G p.K370R Missense 11/11 - 18
17-7573000-TT-GC c.1108_1109delinsGC p.K370A Missense 11/11 - 3
17-7573001-T-G c.1108A>C p.K370Q Missense 11/11 - 2
17-7573001-T-TA c.1107_1108insT p.K370* Nonsense 11/11 - 1
17-7573001-T-C c.1108A>G p.K370E Missense 11/11 - 1
17-7573002-TC-T c.1107del p.K370Sfs*52 Frameshift 11/11 - 1
17-7573003-AG-TA c.1105_1106delinsTA p.L369* Nonsense 11/11 - 1
17-7573003-A-G c.1106T>C p.L369P Missense 11/11 - 1
17-7573004-G-T c.1105C>A p.L369M Missense 11/11 - 1
17-7573006-T-G c.1103A>C p.H368P Missense 11/11 - 1
17-7573010-T-C c.1101-2A>G - IntronicSNV - 10/10 1
17-7573057-G-A c.1101-49C>T - IntronicSNV - 10/10 4
17-7573081-C-G c.1101-73G>C - IntronicSNV - 10/10 2
17-7573085-G-A c.1101-77C>T - IntronicSNV - 10/10 1
17-7573229-C-T c.1101-221G>A - IntronicSNV - 10/10 3
17-7573851-A-T c.1100+76T>A - IntronicSNV - 10/10 1
17-7573883-G-A c.1100+44C>T - IntronicSNV - 10/10 1
17-7573897-T-A c.1100+30A>T - IntronicSNV - 10/10 6
17-7573897-T-C c.1100+30A>G - IntronicSNV - 10/10 4
17-7573897-T-G c.1100+30A>C - IntronicSNV - 10/10 4
17-7573914-T-C c.1100+13A>G - IntronicSNV - 10/10 1
17-7573919-T-C c.1100+8A>G - IntronicSNV - 10/10 1
17-7573920-C-T c.1100+7G>A - IntronicSNV - 10/10 1
17-7573921-A-G c.1100+6T>C - IntronicSNV - 10/10 1
17-7573925-A-G c.1100+2T>C - IntronicSNV - 10/10 1
17-7573926-C-G c.1100+1G>C - IntronicSNV - 10/10 1
17-7573926-C-T c.1100+1G>A - IntronicSNV - 10/10 1
17-7573927-CT-GC c.1099_1100delinsGC p.S367A Missense 10/11 - 6
17-7573927-CT-TC c.1099_1100delinsGA p.S367D Missense 10/11 - 2
17-7573927-C-T c.1100G>A p.S367N Missense 10/11 - 1
17-7573929-GGA-CTC c.1096_1098delinsGAG p.S366E Missense 10/11 - 1
17-7573929-G-A c.1098C>T p.S366= Synonymous 10/11 - 1
17-7573930-G-T c.1097C>A p.S366Y Missense 10/11 - 1
17-7573930-G-A c.1097C>T p.S366F Missense 10/11 - 2
17-7573931-A-C c.1096T>G p.S366A Missense 10/11 - 21
17-7573931-A-G c.1096T>C p.S366P Missense 10/11 - 3
17-7573931-A-T c.1096T>A p.S366T Missense 10/11 - 1
17-7573933-T-C c.1094A>G p.H365R Missense 10/11 - 1
17-7573934-G-A c.1093C>T p.H365Y Missense 10/11 - 5
17-7573935-A-T c.1092T>A p.A364= Synonymous 10/11 - 3
17-7573935-A-G c.1092T>C p.A364= Synonymous 10/11 - 3
17-7573935-A-C c.1092T>G p.A364= Synonymous 10/11 - 3
17-7573936-G-T c.1091C>A p.A364D Missense 10/11 - 1
17-7573936-G-A c.1091C>T p.A364V Missense 10/11 - 1
17-7573937-C-T c.1090G>A p.A364T Missense 10/11 - 2
17-7573937-C-A c.1090G>T p.A364S Missense 10/11 - 1
17-7573939-C-T c.1088G>A p.R363K Missense 10/11 - 3
17-7573939-CT-GC c.1087_1088delinsGC p.R363A Missense 10/11 - 1
17-7573939-CT-TG c.1087_1088delinsCA p.R363Q Missense 10/11 - 1
17-7573940-T-C c.1087A>G p.R363G Missense 10/11 - 1
17-7573940-T-A c.1087A>T p.R363W Missense 10/11 - 2
17-7573942-CT-GC c.1084_1085delinsGC p.S362A Missense 10/11 - 2
17-7573942-CT-TC c.1084_1085delinsGA p.S362D Missense 10/11 - 1
17-7573942-C-T c.1085G>A p.S362N Missense 10/11 - 2
17-7573942-CT-AA c.1084_1085delinsTT p.S362F Missense 10/11 - 1
17-7573943-T-A c.1084A>T p.S362C Missense 10/11 - 2
17-7573943-CT-C c.1084del p.S362Afs*8 Frameshift 10/11 - 3
17-7573943-T-C c.1084A>G p.S362G Missense 10/11 - 1
17-7573944-CC-GT c.1082_1083delinsAC p.G361D Missense 10/11 - 1
17-7573944-C-A c.1083G>T p.G361= Synonymous 10/11 - 1
17-7573945-C-T c.1082G>A p.G361E Missense 10/11 - 5
17-7573946-C-T c.1081G>A p.G361R Missense 10/11 - 3
17-7573948-C-A c.1079G>T p.G360V Missense 10/11 - 11
17-7573948-C-G c.1079G>C p.G360A Missense 10/11 - 19
17-7573948-C-T c.1079G>A p.G360E Missense 10/11 - 1
17-7573943-T-TC c.1083dup p.S362Efs*20 Frameshift 10/11 - 3
17-7573943-TC-T c.1083del p.S362Afs*8 Frameshift 10/11 - 3
17-7573949-C-T c.1078G>A p.G360R Missense 10/11 - 2
17-7573949-C-G c.1078G>C p.G360R Missense 10/11 - 1
17-7573950-T-C c.1077A>G p.P359= Synonymous 10/11 - 2
17-7573950-CT-C c.1077del p.S362Afs*8 Frameshift 10/11 - 1
17-7573951-G-A c.1076C>T p.P359L Missense 10/11 - 1
17-7573952-G-T c.1075C>A p.P359T Missense 10/11 - 1
17-7573952-G-A c.1075C>T p.P359S Missense 10/11 - 6
17-7573952-G-C c.1075C>G p.P359A Missense 10/11 - 1
17-7573953-C-G c.1074G>C p.E358D Missense 10/11 - 1
17-7573953-C-A c.1074G>T p.E358D Missense 10/11 - 1
17-7573954-T-A c.1073A>T p.E358V Missense 10/11 - 7
17-7573955-C-T c.1072G>A p.E358K Missense 10/11 - 4
17-7573955-C-G c.1072G>C p.E358Q Missense 10/11 - 1
17-7573957-T-C c.1070A>G p.K357R Missense 10/11 - 5
17-7573958-T-G c.1069A>C p.K357Q Missense 10/11 - 1
17-7573959-C-T c.1068G>A p.G356= Synonymous 10/11 - 1
17-7573959-C-A c.1068G>T p.G356= Synonymous 10/11 - 1
17-7573958-TCCCAGCCTGGGCATCCTTGAGTTC-T c.1045_1068del p.E349_G356del InFrameDeletion 10/11 - 1
17-7573960-C-G c.1067G>C p.G356A Missense 10/11 - 1
17-7573961-C-T c.1066G>A p.G356R Missense 10/11 - 1
17-7573961-C-G c.1066G>C p.G356R Missense 10/11 - 1
17-7573961-C-A c.1066G>T p.G356W Missense 10/11 - 2
17-7573958-TC-T c.1068del p.K357Rfs*13 Frameshift 10/11 - 1
17-7573962-CAG-C c.1064_1065del p.A355Gfs*26 Frameshift 10/11 - 1
17-7573962-AGC-CTT c.1063_1065delinsAAG p.A355K Missense 10/11 - 1
17-7573963-G-A c.1064C>T p.A355V Missense 10/11 - 1
17-7573964-C-T c.1063G>A p.A355T Missense 10/11 - 4
17-7573964-C-A c.1063G>T p.A355S Missense 10/11 - 1
17-7573964-C-G c.1063G>C p.A355P Missense 10/11 - 1
17-7573965-C-T c.1062G>A p.Q354= Synonymous 10/11 - 1
17-7573965-C-A c.1062G>T p.Q354H Missense 10/11 - 1
17-7573966-T-C c.1061A>G p.Q354R Missense 10/11 - 3
17-7573966-CTGGGCATCCTT-C c.1051_1061del p.K351Gfs*27 Frameshift 10/11 - 1
17-7573967-G-C c.1060C>G p.Q354E Missense 10/11 - 2
17-7573965-CTGGGCATCCTTGAGT-C c.1047_1061del p.L350_Q354del InFrameDeletion 10/11 - 1
17-7573967-G-A c.1060C>T p.Q354* Nonsense 10/11 - 2
17-7573967-G-T c.1060C>A p.Q354K Missense 10/11 - 3
17-7573966-TGGGCATCCTTGAGTTCCAAG-T c.1041_1060del p.L348Gfs*27 Frameshift 10/11 - 1
17-7573969-G-A c.1058C>T p.A353V Missense 10/11 - 2
17-7573969-GGCATCCTTGAGTTCCAAGGCCTCATTCAGCTCTCGGA-G c.1022_1058del p.F341Sfs*17 Frameshift 10/11 - 1
17-7573967-GGGCATCCTTGA-G c.1049_1059del p.L350Pfs*28 Frameshift 10/11 - 1
17-7573970-C-T c.1057G>A p.A353T Missense 10/11 - 4
17-7573972-T-G c.1055A>C p.D352A Missense 10/11 - 1
17-7573972-ATCCTT-A c.1051_1055del p.K351Cfs*29 Frameshift 10/11 - 1
17-7573973-C-T c.1054G>A p.D352N Missense 10/11 - 4
17-7573973-C-A c.1054G>T p.D352Y Missense 10/11 - 4
17-7573974-C-G c.1053G>C p.K351N Missense 10/11 - 14
17-7573974-C-A c.1053G>T p.K351N Missense 10/11 - 14
17-7573974-CCTT-C c.1051_1053del p.K351del InFrameDeletion 10/11 - 1
17-7573975-TT-GC c.1051_1052delinsGC p.K351A Missense 10/11 - 2
17-7573975-T-C c.1052A>G p.K351R Missense 10/11 - 3
17-7573975-T-A c.1052A>T p.K351M Missense 10/11 - 1
17-7573976-T-A c.1051A>T p.K351* Nonsense 10/11 - 5
17-7573976-T-C c.1051A>G p.K351E Missense 10/11 - 8
17-7573974-CT-C c.1052del p.K351Rfs*19 Frameshift 10/11 - 1
17-7573976-T-G c.1051A>C p.K351Q Missense 10/11 - 1
17-7573977-G-A c.1050C>T p.L350= Synonymous 10/11 - 1
17-7573977-G-C c.1050C>G p.L350= Synonymous 10/11 - 1
17-7573977-G-T c.1050C>A p.L350= Synonymous 10/11 - 1
17-7573977-TGAG-T c.1048_1050del p.L350del InFrameDeletion 10/11 - 1
17-7573977-TG-T c.1050del p.K351Rfs*19 Frameshift 10/11 - 1
17-7573978-A-G c.1049T>C p.L350P Missense 10/11 - 5
17-7573978-AG-GC c.1048_1049delinsGC p.L350A Missense 10/11 - 5
17-7573979-G-C c.1048C>G p.L350V Missense 10/11 - 2
17-7573980-T-C c.1047A>G p.E349= Synonymous 10/11 - 1
17-7573980-T-G c.1047A>C p.E349D Missense 10/11 - 1
17-7573980-T-A c.1047A>T p.E349D Missense 10/11 - 1
17-7573979-G-GT c.1047dup p.L350Tfs*32 Frameshift 10/11 - 1
17-7573982-C-A c.1045G>T p.E349* Nonsense 10/11 - 26
17-7573982-C-T c.1045G>A p.E349K Missense 10/11 - 4
17-7573983-C-A c.1044G>T p.L348F Missense 10/11 - 6
17-7573983-C-G c.1044G>C p.L348F Missense 10/11 - 6
17-7573981-TC-T c.1045del p.E349Nfs*21 Frameshift 10/11 - 5
17-7573984-AA-GC c.1042_1043delinsGC p.L348A Missense 10/11 - 14
17-7573984-A-G c.1043T>C p.L348S Missense 10/11 - 9
17-7573984-A-C c.1043T>G p.L348W Missense 10/11 - 3
17-7573984-AA-TC c.1042_1043delinsGA p.L348E Missense 10/11 - 1
17-7573983-CA-C c.1043del p.L348Wfs*22 Frameshift 10/11 - 1
17-7573985-AAGGCCTCATTCAG-A c.1030_1042del p.L344Wfs*22 Frameshift 10/11 - 1
17-7573987-G-T c.1040C>A p.A347D Missense 10/11 - 8
17-7573987-G-A c.1040C>T p.A347V Missense 10/11 - 9
17-7573985-AG-A c.1041del p.L348Wfs*22 Frameshift 10/11 - 1
17-7573984-AAGGCCTCATTCAGCTCTCGGAACATCTCGAAGCGCTCACGCCCACGGATCTGCAGCAAC-A c.994-10_1042del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/11 9/10 1
17-7573988-C-T c.1039G>A p.A347T Missense 10/11 - 12
17-7573988-C-G c.1039G>C p.A347P Missense 10/11 - 4
17-7573988-C-A c.1039G>T p.A347S Missense 10/11 - 1
17-7573989-C-T c.1038G>A p.E346= Synonymous 10/11 - 1
17-7573989-C-G c.1038G>C p.E346D Missense 10/11 - 2
17-7573989-C-A c.1038G>T p.E346D Missense 10/11 - 2
17-7573989-CTCATTCAGCTCTCGG-A c.1023_1038delinsT p.R342_E346del InFrameDeletion 10/11 - 1
17-7573990-T-C c.1037A>G p.E346G Missense 10/11 - 2
17-7573990-T-G c.1037A>C p.E346A Missense 10/11 - 2
17-7573990-T-A c.1037A>T p.E346V Missense 10/11 - 1
17-7573988-CCT-C c.1037_1038del p.E346Gfs*35 Frameshift 10/11 - 1
17-7573991-C-A c.1036G>T p.E346* Nonsense 10/11 - 12
17-7573991-C-T c.1036G>A p.E346K Missense 10/11 - 1
17-7573992-A-C c.1035T>G p.N345K Missense 10/11 - 6
17-7573992-A-T c.1035T>A p.N345K Missense 10/11 - 6
17-7573992-A-G c.1035T>C p.N345= Synonymous 10/11 - 1
17-7573992-CATTCAGCTCTCG-C c.1024_1035del p.R342_N345del InFrameDeletion 10/11 - 2
17-7573988-CCTCATTCAG-C c.1030_1038del p.L344_E346del InFrameDeletion 10/11 - 1
17-7573992-ATT-TTA c.1033_1035delinsTAA p.N345* Nonsense 10/11 - 1
17-7573992-AT-CA c.1034_1035delinsTG p.N345M Missense 10/11 - 1
17-7573993-T-C c.1034A>G p.N345S Missense 10/11 - 4
17-7573993-T-A c.1034A>T p.N345I Missense 10/11 - 2
17-7573992-A-AT c.1034dup p.N345Kfs*2 Frameshift 10/11 - 1
17-7573994-T-C c.1033A>G p.N345D Missense 10/11 - 4
17-7573994-T-TA c.1032_1033insT p.N345* Nonsense 10/11 - 1
17-7573992-AT-A c.1034del p.N345Mfs*25 Frameshift 10/11 - 1
17-7573995-CAG-ATA c.1030_1032delinsTAT p.L344Y Missense 10/11 - 1
17-7573996-A-T c.1031T>A p.L344Q Missense 10/11 - 3
17-7573996-A-G c.1031T>C p.L344P Missense 10/11 - 61
17-7573996-A-C c.1031T>G p.L344R Missense 10/11 - 14
17-7573996-AG-GC c.1030_1031delinsGC p.L344A Missense 10/11 - 32
17-7573996-AG-CC c.1030_1031delinsGG p.L344G Missense 10/11 - 1
17-7573996-AG-TC c.1030_1031delinsGA p.L344E Missense 10/11 - 1
17-7573995-C-CA c.1031dup p.N345Efs*2 Frameshift 10/11 - 1
17-7573997-AG-A c.1030del p.L344* Frameshift 10/11 - 1
17-7573999-CT-C c.1028del p.E343Gfs*2 Frameshift 10/11 - 7
17-7573999-T-G c.1028A>C p.E343A Missense 10/11 - 4
17-7573999-T-C c.1028A>G p.E343G Missense 10/11 - 1
17-7574000-C-A c.1027G>T p.E343* Nonsense 10/11 - 14
17-7574000-C-T c.1027G>A p.E343K Missense 10/11 - 5
17-7574000-C-CA c.1026_1027insT p.E343* Nonsense 10/11 - 1
17-7574000-C-G c.1027G>C p.E343Q Missense 10/11 - 1
17-7574000-TCTC-T c.1025_1027del p.R342_E343delinsQ MultiAAMissense 10/11 - 1
17-7574000-TCTCGGAACATCTCG-T c.1014_1027del p.F338Lfs*4 Frameshift 10/11 - 1
17-7573997-GCT-G c.1028_1029del p.E343Afs*3 Frameshift 10/11 - 3
17-7574001-TC-AT c.1025_1026delinsAT p.R342H Missense 10/11 - 1
17-7573999-TCTCGGAA-T c.1021_1027del p.F341Sfs*2 Frameshift 10/11 - 1
17-7574002-C-G c.1025G>C p.R342P Missense 10/11 - 38
17-7574002-CG-GC c.1024_1025delinsGC p.R342A Missense 10/11 - 1
17-7574002-C-T c.1025G>A p.R342Q Missense 10/11 - 5
17-7574002-CG-TC c.1024_1025delinsGA p.R342E Missense 10/11 - 2
17-7574002-TC-T c.1025del p.R342Qfs*3 Frameshift 10/11 - 1
17-7574000-C-CTCTTCTT c.1026_1027insAAGAAGA p.E343Kfs*6 Frameshift 10/11 - 1
17-7574003-G-A c.1024C>T p.R342* Nonsense 10/11 - 188
17-7574001-T-C c.1026A>G p.R342= Synonymous 10/11 - 3
17-7574001-T-A c.1026A>T p.R342= Synonymous 10/11 - 3
17-7574001-T-G c.1026A>C p.R342= Synonymous 10/11 - 3
17-7574003-G-T c.1024C>A p.R342= Synonymous 10/11 - 3
17-7574001-TCGGAA-T c.1021_1025del p.F341Rfs*4 Frameshift 10/11 - 1
17-7574003-CGGAACATCTCG-C c.1014_1024del p.F338Lfs*5 Frameshift 10/11 - 1
17-7574003-G-C c.1024C>G p.R342G Missense 10/11 - 3
17-7574002-CG-C c.1024del p.R342Efs*3 Frameshift 10/11 - 23
17-7573998-CTCTCGGAACA-C c.1019_1028del p.M340Sfs*2 Frameshift 10/11 - 3
17-7574004-G-A c.1023C>T p.F341= Synonymous 10/11 - 2
17-7574004-GAA-CTT c.1021_1023delinsAAG p.F341K Missense 10/11 - 1
17-7574005-GAACATCT-G c.1016_1022del p.E339Afs*4 Frameshift 10/11 - 1
17-7574005-A-T c.1022T>A p.F341Y Missense 10/11 - 3
17-7574005-A-C c.1022T>G p.F341C Missense 10/11 - 7
17-7574005-A-G c.1022T>C p.F341S Missense 10/11 - 6
17-7574005-A-ATT c.1021_1022insAA p.F341* Nonsense 10/11 - 1
17-7574005-AA-GC c.1021_1022delinsGC p.F341A Missense 10/11 - 1
17-7574005-GAACATCTC-G c.1015_1022del p.E339Pfs*5 Frameshift 10/11 - 1
17-7574006-A-C c.1021T>G p.F341V Missense 10/11 - 5
17-7574006-A-T c.1021T>A p.F341I Missense 10/11 - 3
17-7574004-G-GA c.1022dup p.R342Pfs*5 Frameshift 10/11 - 4
17-7574006-A-G c.1021T>C p.F341L Missense 10/11 - 5
17-7574004-GA-G c.1022del p.F341Sfs*4 Frameshift 10/11 - 1
17-7574004-G-T c.1023C>A p.F341L Missense 10/11 - 3
17-7574004-G-C c.1023C>G p.F341L Missense 10/11 - 3
17-7574004-GAACATCTCGAAGCGCTC-G c.1006_1022del p.E336Pfs*5 Frameshift 10/11 - 1
17-7574006-AACATCT-A c.1016_1021del p.E339_F341delinsV MultiAAMissense 10/11 - 1
17-7574006-AACATCTC-A c.1015_1021del p.E339Sfs*4 Frameshift 10/11 - 1
17-7574005-AAC-A c.1020_1021del p.M340Ifs*6 Frameshift 10/11 - 1
17-7574007-C-G c.1020G>C p.M340I Missense 10/11 - 1
17-7574007-C-T c.1020G>A p.M340I Missense 10/11 - 2
17-7574007-C-A c.1020G>T p.M340I Missense 10/11 - 1
17-7574007-ACATCTCGAAGCGCTCACGCCC-A c.1000_1020del p.G334_M340del InFrameDeletion 10/11 - 1
17-7574007-ACATC-A c.1017_1020del p.E339Dfs*5 Frameshift 10/11 - 1
17-7574006-A-ACTTC c.1020_1021insGAAG p.F341Efs*7 Frameshift 10/11 - 1
17-7574008-A-G c.1019T>C p.M340T Missense 10/11 - 2
17-7574008-AT-GC c.1018_1019delinsGC p.M340A Missense 10/11 - 1
17-7574008-A-T c.1019T>A p.M340K Missense 10/11 - 1
17-7574008-AT-TG c.1018_1019delinsCA p.M340Q Missense 10/11 - 5
17-7574008-AT-TC c.1018_1019delinsGA p.M340E Missense 10/11 - 1
17-7574009-T-C c.1018A>G p.M340V Missense 10/11 - 3
17-7574006-ACATCTCGAAGCGCT-A c.1007_1020del p.E336Vfs*6 Frameshift 10/11 - 1
17-7574009-ATCT-A c.1016_1018del p.E339_M340delinsV MultiAAMissense 10/11 - 1
17-7574009-ATCTCGAAGC-A c.1010_1018del p.R337_M340delinsL MultiAAMissense 10/11 - 1
17-7574010-TC-T c.1017del p.M340Cfs*5 Frameshift 10/11 - 1
17-7574010-C-G c.1017G>C p.E339D Missense 10/11 - 2
17-7574010-C-A c.1017G>T p.E339D Missense 10/11 - 2
17-7574011-T-A c.1016A>T p.E339V Missense 10/11 - 2
17-7574011-T-C c.1016A>G p.E339G Missense 10/11 - 1
17-7574011-T-G c.1016A>C p.E339A Missense 10/11 - 1
17-7574012-C-A c.1015G>T p.E339* Nonsense 10/11 - 19
17-7574012-C-T c.1015G>A p.E339K Missense 10/11 - 19
17-7574012-C-G c.1015G>C p.E339Q Missense 10/11 - 5
17-7574013-G-A c.1014C>T p.F338= Synonymous 10/11 - 6
17-7574013-CG-C c.1014del p.F338Lfs*7 Frameshift 10/11 - 2
17-7574013-G-C c.1014C>G p.F338L Missense 10/11 - 2
17-7574014-AA-CC c.1012_1013delinsGG p.F338G Missense 10/11 - 1
17-7574014-A-C c.1013T>G p.F338C Missense 10/11 - 1
17-7574014-GAAGCGCTCACGC-G c.1002_1013del p.R335_F338del InFrameDeletion 10/11 - 1
17-7574015-A-G c.1012T>C p.F338L Missense 10/11 - 3
17-7574015-A-T c.1012T>A p.F338I Missense 10/11 - 4
17-7574015-AAGCGC-A c.1008_1012del p.E336Dfs*9 Frameshift 10/11 - 1
17-7574015-A-C c.1012T>G p.F338V Missense 10/11 - 1
17-7574013-GA-G c.1013del p.F338Sfs*7 Frameshift 10/11 - 1
17-7574013-G-T c.1014C>A p.F338L Missense 10/11 - 1
17-7574016-G-T c.1011C>A p.R337= Synonymous 10/11 - 1
17-7574016-G-C c.1011C>G p.R337= Synonymous 10/11 - 1
17-7574016-G-A c.1011C>T p.R337= Synonymous 10/11 - 1
17-7574018-GCTC-ATAA c.1006_1009delinsTTAT p.E336_R337delinsLC MultiAAMissense 10/11 - 1
17-7574016-GCG-TCA c.1009_1011delinsTGA p.R337* Nonsense 10/11 - 1
17-7574016-AGCGCTCACGCCC-A c.1000_1011del p.G334_R337del InFrameDeletion 10/11 - 1
17-7574017-C-T c.1010G>A p.R337H Missense 10/11 - 312
17-7574017-C-A c.1010G>T p.R337L Missense 10/11 - 49
17-7574003-G-GGAACATCTCGAAGCT c.1023_1024insAGCTTCGAGATGTTC p.F341_R342insSFEMF InFrameInsertion 10/11 - 1
17-7574017-C-G c.1010G>C p.R337P Missense 10/11 - 17
17-7574017-CG-GC c.1009_1010delinsGC p.R337A Missense 10/11 - 4
17-7574017-GC-G c.1010del p.R337Pfs*8 Frameshift 10/11 - 1
17-7574017-CG-GT c.1009_1010delinsAC p.R337T Missense 10/11 - 1
17-7574018-G-A c.1009C>T p.R337C Missense 10/11 - 127
17-7574018-G-T c.1009C>A p.R337S Missense 10/11 - 4
17-7574018-G-C c.1009C>G p.R337G Missense 10/11 - 8
17-7574018-CGCTCACG-C c.1003_1009del p.R335Afs*8 Frameshift 10/11 - 1
17-7574019-C-A c.1008G>T p.E336D Missense 10/11 - 2
17-7574019-C-T c.1008G>A p.E336= Synonymous 10/11 - 1
17-7574019-C-G c.1008G>C p.E336D Missense 10/11 - 1
17-7574020-T-C c.1007A>G p.E336G Missense 10/11 - 3
17-7574018-GCTCA-G c.1005_1008del p.E336Afs*8 Frameshift 10/11 - 1
17-7574021-C-A c.1006G>T p.E336* Nonsense 10/11 - 34
17-7574021-C-T c.1006G>A p.E336K Missense 10/11 - 6
17-7574021-CAC-A c.1004_1006delinsT p.R335Lfs*11 Frameshift 10/11 - 1
17-7574021-C-G c.1006G>C p.E336Q Missense 10/11 - 1
17-7574022-ACG-CTC c.1003_1005delinsGAG p.R335E Missense 10/11 - 1
17-7574022-ACG-TCA c.1003_1005delinsTGA p.R335* Nonsense 10/11 - 1
17-7574022-CACG-C c.1003_1005del p.R335del InFrameDeletion 10/11 - 1
17-7574022-A-T c.1005T>A p.R335= Synonymous 10/11 - 1
17-7574022-AC-TT c.1004_1005delinsAA p.R335Q Missense 10/11 - 1
17-7574022-A-G c.1005T>C p.R335= Synonymous 10/11 - 1
17-7574021-C-CA c.1005dup p.E336* Nonsense 10/11 - 2
17-7574022-ACG-CCA c.1003_1005delinsTGG p.R335W Missense 10/11 - 1
17-7574023-C-T c.1004G>A p.R335H Missense 10/11 - 7
17-7574023-C-G c.1004G>C p.R335P Missense 10/11 - 1
17-7574023-AC-A c.1004del p.R335Lfs*10 Frameshift 10/11 - 2
17-7574023-C-A c.1004G>T p.R335L Missense 10/11 - 1
17-7574024-G-A c.1003C>T p.R335C Missense 10/11 - 4
17-7574023-CGCCCACG-C c.997_1003del p.R333Vfs*10 Frameshift 10/11 - 1
17-7574026-C-A c.1001G>T p.G334V Missense 10/11 - 29
17-7574026-C-G c.1001G>C p.G334A Missense 10/11 - 1
17-7574026-C-T c.1001G>A p.G334E Missense 10/11 - 3
17-7574027-C-T c.1000G>A p.G334R Missense 10/11 - 4
17-7574027-C-G c.1000G>C p.G334R Missense 10/11 - 12
17-7574027-C-A c.1000G>T p.G334W Missense 10/11 - 13
17-7574028-ACG-TCACGCCCACT c.997_999delinsAGTGGGCGTGA p.R333Sfs*15 Frameshift 10/11 - 2
17-7574028-AC-TT c.998_999delinsAA p.R333Q Missense 10/11 - 1
17-7574028-A-T c.999T>A p.R333= Synonymous 10/11 - 2
17-7574028-A-G c.999T>C p.R333= Synonymous 10/11 - 2
17-7574028-A-C c.999T>G p.R333= Synonymous 10/11 - 2
17-7574028-ACG-TCA c.997_999delinsTGA p.R333* Nonsense 10/11 - 1
17-7574029-C-T c.998G>A p.R333H Missense 10/11 - 3
17-7574029-AC-A c.998del p.R333Lfs*12 Frameshift 10/11 - 1
17-7574029-C-A c.998G>T p.R333L Missense 10/11 - 1
17-7574029-CG-GC c.997_998delinsGC p.R333A Missense 10/11 - 1
17-7574030-G-C c.997C>G p.R333G Missense 10/11 - 5
17-7574030-G-A c.997C>T p.R333C Missense 10/11 - 9
17-7574031-GAT-CTC c.994_996delinsGAG p.I332E Missense 10/11 - 5
17-7574029-CG-C c.997del p.R333Vfs*12 Frameshift 10/11 - 12
17-7574029-C-CG c.997dup p.R333Pfs*4 SpliceAcceptorInsertion 10/11 - 2
17-7574031-G-A c.996C>T p.I332= Synonymous 10/11 - 2
17-7574031-G-C c.996C>G p.I332M Missense 10/11 - 2
17-7574031-GA-CC c.995_996delinsGG p.I332R Missense 10/11 - 1
17-7574031-GAT-TTG c.994_996delinsCAA p.I332Q Missense 10/11 - 1
17-7574031-GAT-CCA c.994_996delinsTGG p.I332W Missense 10/11 - 1
17-7574031-GA-CT c.995_996delinsAG p.I332K Missense 10/11 - 1
17-7574031-G-T c.996C>A p.I332= Synonymous 10/11 - 1
17-7574032-A-T c.995T>A p.I332N Missense 10/11 - 2
17-7574032-GAT-G c.994_995del p.I332Pfs*4 SpliceAcceptorDeletion 10/11 - 2
17-7574032-GA-G c.995del p.I332Tfs*13 Frameshift 10/11 - 2
17-7574032-A-C c.995T>G p.I332S Missense 10/11 - 2
17-7574032-AT-GC c.994_995delinsGC p.I332A Missense 10/11 - 3
17-7574032-A-G c.995T>C p.I332T Missense 10/11 - 2
17-7574032-AT-TA c.994_995delinsTA p.I332Y Missense 10/11 - 1
17-7574032-AT-TC c.994_995delinsGA p.I332D Missense 10/11 - 1
17-7574032-AT-CA c.994_995delinsTG p.I332C Missense 10/11 - 1
17-7574032-AT-CC c.994_995delinsGG p.I332G Missense 10/11 - 1
17-7574032-AT-TG c.994_995delinsCA p.I332H Missense 10/11 - 1
17-7574032-AT-GG c.994_995delinsCC p.I332P Missense 10/11 - 1
17-7574033-T-A c.994A>T p.I332F Missense 10/11 - 4
17-7574032-A-AT c.994dup p.I332Nfs*5 SpliceAcceptorInsertion - - 2
17-7574033-T-C c.994A>G p.I332V Missense 10/11 - 3
17-7574033-T-G c.994A>C p.I332L Missense 10/11 - 1
17-7574034-C-G c.994-1G>C - IntronicSNV - 9/10 4
17-7574034-C-T c.994-1G>A - IntronicSNV - 9/10 4
17-7574035-T-C c.994-2A>G - IntronicSNV - 9/10 1
17-7574721-C-T c.994-688G>A - IntronicSNV - 9/10 2
17-7574775-C-T c.994-742G>A - IntronicSNV - 9/10 5
17-7574779-C-T c.994-746G>A - IntronicSNV - 9/10 2
17-7574864-C-T c.994-831G>A - IntronicSNV - 9/10 2
17-7574936-C-T c.994-903G>A - IntronicSNV - 9/10 2
17-7575733-A-G c.993+1120T>C - IntronicSNV - 9/10 1
17-7576151-G-A c.993+702C>T - IntronicSNV - 9/10 1
17-7576348-C-T c.993+505G>A - IntronicSNV - 9/10 2
17-7576422-G-A c.993+431C>T - IntronicSNV - 9/10 2
17-7576501-G-A c.993+352C>T - IntronicSNV - 9/10 2
17-7576504-T-G c.993+349A>C - IntronicSNV - 9/10 1
17-7576525-A-C c.993+328T>G - IntronicSNV - 9/10 1
17-7576511-CATTTTCAACTTACAAT-C c.993+326_993+341del - IntronicDeletion - 9/10 1
17-7576533-C-T c.993+320G>A - IntronicSNV - 9/10 1
17-7576537-T-C c.993+316A>G - IntronicSNV - 9/10 1
17-7576539-A-G c.993+314T>C - IntronicSNV - 9/10 1
17-7576540-C-T c.993+313G>A - IntronicSNV - 9/10 2
17-7576541-G-C c.993+312C>G - IntronicSNV - 9/10 1
17-7576541-G-A c.993+312C>T - IntronicSNV - 9/10 2
17-7576542-A-C c.993+311T>G - IntronicSNV - 9/10 1
17-7576542-A-G c.993+311T>C - IntronicSNV - 9/10 1
17-7576543-C-A c.993+310G>T - IntronicSNV - 9/10 1
17-7576543-C-T c.993+310G>A - IntronicSNV - 9/10 1
17-7576544-G-A c.993+309C>T - IntronicSNV - 9/10 4
17-7576546-G-C c.993+307C>G - IntronicSNV - 9/10 2
17-7576554-G-A c.993+299C>T - IntronicSNV - 9/10 1
17-7576555-G-T c.993+298C>A - IntronicSNV - 9/10 1
17-7576558-G-A c.993+295C>T - IntronicSNV - 9/10 1
17-7576563-A-G c.993+290T>C - IntronicSNV - 9/10 3
17-7576563-A-T c.993+290T>A - IntronicSNV - 9/10 1
17-7576566-A-G c.993+287T>C - IntronicSNV - 9/10 3
17-7576568-C-T c.993+285G>A - IntronicSNV - 9/10 1
17-7576568-C-G c.993+285G>C - IntronicSNV - 9/10 1
17-7576568-TCGTAA-T c.993+281_993+285del - IntronicDeletion - 9/10 1
17-7576569-G-A c.993+284C>T - IntronicSNV - 9/10 2
17-7576570-T-G c.993+283A>C - IntronicSNV - 9/10 1
17-7576572-A-C c.993+281T>G - IntronicSNV - 9/10 1
17-7576579-T-C c.993+274A>G - IntronicSNV - 9/10 1
17-7576591-C-T c.993+262G>A - IntronicSNV - 9/10 1
17-7576601-C-T c.993+252G>A - IntronicSNV - 9/10 1
17-7576607-A-T c.993+246T>A - IntronicSNV - 9/10 1
17-7576609-C-A c.993+244G>T - IntronicSNV - 9/10 1
17-7576619-C-T c.993+234G>A - IntronicSNV - 9/10 1
17-7576625-T-C c.993+228A>G - IntronicSNV - 9/10 2
17-7576626-T-C c.993+227A>G - IntronicSNV - 9/10 1
17-7576626-T-G c.993+227A>C - IntronicSNV - 9/10 2
17-7576630-A-T c.993+223T>A - IntronicSNV - 9/10 2
17-7576630-A-C c.993+223T>G - IntronicSNV - 9/10 2
17-7576630-A-G c.993+223T>C - IntronicSNV - 9/10 1
17-7576631-A-G c.993+222T>C - IntronicSNV - 9/10 1
17-7576633-T-C c.993+220A>G - IntronicSNV - 9/10 1
17-7576636-C-G c.993+217G>C - IntronicSNV - 9/10 1
17-7576637-T-G c.993+216A>C - IntronicSNV - 9/10 1
17-7576640-T-C c.993+213A>G - IntronicSNV - 9/10 1
17-7576648-TG-T c.993+204del - IntronicDeletion - 9/10 1
17-7576651-GT-G c.993+202del - IntronicDeletion - 9/10 1
17-7576654-G-C c.993+199C>G - IntronicSNV - 9/10 2
17-7576655-G-A c.993+198C>T - IntronicSNV - 9/10 3
17-7576655-G-T c.993+198C>A - IntronicSNV - 9/10 1
17-7576656-T-C c.993+197A>G - IntronicSNV - 9/10 1
17-7576659-T-C c.993+194A>G - IntronicSNV - 9/10 1
17-7576686-G-GGT c.993+165_993+166dup - IntronicInsertion - 9/10 1
17-7576712-C-T c.993+141G>A - IntronicSNV - 9/10 1
17-7576792-C-T c.993+61G>A - IntronicSNV - 9/10 1
17-7576807-TAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGA-T c.990_993+45del - SpliceDonorDeletion 9/11 9/10 1
17-7576825-C-T c.993+28G>A - IntronicSNV - 9/10 1
17-7576833-AGAGGTCCCAAGACTTAGTAC-A c.993+1_993+20del - SpliceDonorDeletion - 9/10 1
17-7576840-C-G c.993+13G>C - IntronicSNV - 9/10 1
17-7576841-A-G c.993+12T>C - IntronicSNV - 9/10 9
17-7576847-TTAGTACCTGAAGG-T c.987_993+6del - SpliceDonorDeletion 9/11 9/10 1
17-7576849-AGTACCTG-A c.991_993+4del - SpliceDonorDeletion 9/11 9/10 1
17-7576848-AGTACCTGAAG-A c.988_993+4del - SpliceDonorDeletion 9/11 9/10 1
17-7576851-A-C c.993+2T>G - IntronicSNV - 9/10 6
17-7576851-A-G c.993+2T>C - IntronicSNV - 9/10 4
17-7576851-A-T c.993+2T>A - IntronicSNV - 9/10 2
17-7576852-C-T c.993+1G>A - IntronicSNV - 9/10 19
17-7576852-C-A c.993+1G>T - IntronicSNV - 9/10 13
17-7576852-C-G c.993+1G>C - IntronicSNV - 9/10 4
17-7576853-C-A c.993G>T p.Q331H Missense 9/11 - 15
17-7576853-C-G c.993G>C p.Q331H Missense 9/11 - 13
17-7576853-C-T c.993G>A p.Q331= Synonymous 9/11 - 6
17-7576851-AC-A c.993+1del - IntronicDeletion 9/11 - 1
17-7576853-CTG-GTC c.991_993delinsGAC p.Q331D Missense 9/11 - 1
17-7576853-CTG-GTT c.991_993delinsAAC p.Q331N Missense 9/11 - 2
17-7576853-CTG-GAT c.991_993delinsATC p.Q331I Missense 9/11 - 1
17-7576853-CTG-ACA c.991_993delinsTGT p.Q331C Missense 9/11 - 1
17-7576853-CTG-AAA c.991_993delinsTTT p.Q331F Missense 9/11 - 1
17-7576853-CTG-ATA c.991_993delinsTAT p.Q331Y Missense 9/11 - 1
17-7576854-T-C c.992A>G p.Q331R Missense 9/11 - 16
17-7576854-TG-GC c.991_992delinsGC p.Q331A Missense 9/11 - 3
17-7576854-CT-C c.992del p.Q331Rfs*14 Frameshift 9/11 - 1
17-7576854-T-G c.992A>C p.Q331P Missense 9/11 - 2
17-7576854-TG-AC c.991_992delinsGT p.Q331V Missense 9/11 - 1
17-7576854-TG-AT c.991_992delinsAT p.Q331M Missense 9/11 - 1
17-7576854-T-A c.992A>T p.Q331L Missense 9/11 - 1
17-7576854-TG-GA c.991_992delinsTC p.Q331S Missense 9/11 - 1
17-7576854-TG-GT c.991_992delinsAC p.Q331T Missense 9/11 - 2
17-7576854-TG-CA c.991_992inv p.Q331W Missense 9/11 - 1
17-7576854-TG-CC c.991_992delinsGG p.Q331G Missense 9/11 - 1
17-7576855-G-A c.991C>T p.Q331* Nonsense 9/11 - 61
17-7576855-TG-T c.991del p.Q331Rfs*14 Frameshift 9/11 - 1
17-7576855-G-T c.991C>A p.Q331K Missense 9/11 - 2
17-7576855-G-C c.991C>G p.Q331E Missense 9/11 - 2
17-7576854-T-TG c.991dup p.Q331Pfs*6 SpliceDonorInsertion 9/11 - 1
17-7576856-AAG-CTC c.988_990delinsGAG p.L330E Missense 9/11 - 3
17-7576856-AAG-CCA c.988_990delinsTGG p.L330W Missense 9/11 - 1
17-7576856-AA-TT c.989_990inv p.L330Q Missense 9/11 - 1
17-7576856-AAG-CTT c.988_990inv p.L330K Missense 9/11 - 1
17-7576856-AAG-CAT c.988_990delinsATG p.L330M Missense 9/11 - 2
17-7576857-A-G c.989T>C p.L330P Missense 9/11 - 11
17-7576857-A-C c.989T>G p.L330R Missense 9/11 - 11
17-7576857-A-T c.989T>A p.L330H Missense 9/11 - 13
17-7576857-AG-GC c.988_989delinsGC p.L330A Missense 9/11 - 5
17-7576855-G-GA c.990dup p.Q331Sfs*6 Frameshift 9/11 - 1
17-7576855-GA-G c.990del p.Q331Rfs*14 Frameshift 9/11 - 1
17-7576857-AG-GT c.988_989delinsAC p.L330T Missense 9/11 - 1
17-7576857-AG-CT c.988_989inv p.L330S Missense 9/11 - 1
17-7576857-AG-CA c.988_989delinsTG p.L330C Missense 9/11 - 1
17-7576857-AG-TC c.988_989delinsGA p.L330D Missense 9/11 - 1
17-7576857-AG-CC c.988_989delinsGG p.L330G Missense 9/11 - 1
17-7576857-AG-TT c.988_989delinsAA p.L330N Missense 9/11 - 1
17-7576857-AG-TA c.988_989delinsTA p.L330Y Missense 9/11 - 1
17-7576858-G-C c.988C>G p.L330V Missense 9/11 - 1
17-7576858-G-A c.988C>T p.L330F Missense 9/11 - 1
17-7576858-G-T c.988C>A p.L330I Missense 9/11 - 1
17-7576855-GAAGGGTGA-G c.983_990del p.F328Sfs*6 Frameshift 9/11 - 1
17-7576860-G-A c.986C>T p.T329I Missense 9/11 - 3
17-7576857-AG-A c.988del p.L330Ffs*15 Frameshift 9/11 - 3
17-7576861-T-C c.985A>G p.T329A Missense 9/11 - 2
17-7576859-GGT-G c.985_986del p.T329Pfs*7 Frameshift 9/11 - 1
17-7576860-G-GT c.985dup p.T329Nfs*8 Frameshift 9/11 - 1
17-7576861-T-TG c.984dup p.T329Hfs*8 Frameshift 9/11 - 1
17-7576862-TG-T c.984del p.F328Lfs*17 Frameshift 9/11 - 1
17-7576861-TGAAATATTCTCCATCCAGTG-T c.965_984del p.P322Hfs*8 Frameshift 9/11 - 1
17-7576864-A-C c.982T>G p.F328V Missense 9/11 - 2
17-7576862-GA-G c.983del p.F328Sfs*17 Frameshift 9/11 - 3
17-7576865-A-T c.981T>A p.Y327* Nonsense 9/11 - 9
17-7576865-A-C c.981T>G p.Y327* Nonsense 9/11 - 6
17-7576862-G-GA c.983dup p.T329Hfs*8 Frameshift 9/11 - 5
17-7576866-T-G c.980A>C p.Y327S Missense 9/11 - 1
17-7576866-TA-GC c.979_980delinsGC p.Y327A Missense 9/11 - 2
17-7576866-T-A c.980A>T p.Y327F Missense 9/11 - 1
17-7576867-TA-T c.979del p.Y327Ifs*18 Frameshift 9/11 - 1
17-7576867-A-T c.979T>A p.Y327N Missense 9/11 - 1
17-7576867-TATTCTCCATC-T c.970_979del p.D324Ifs*18 Frameshift 9/11 - 1
17-7576867-A-C c.979T>G p.Y327D Missense 9/11 - 1
17-7576867-A-G c.979T>C p.Y327H Missense 9/11 - 1
17-7576868-T-G c.978A>C p.E326D Missense 9/11 - 2
17-7576868-T-A c.978A>T p.E326D Missense 9/11 - 2
17-7576869-TC-AG c.976_977delinsCT p.E326L Missense 9/11 - 1
17-7576869-T-G c.977A>C p.E326A Missense 9/11 - 1
17-7576869-T-C c.977A>G p.E326G Missense 9/11 - 2
17-7576869-T-A c.977A>T p.E326V Missense 9/11 - 1
17-7576867-AT-A c.978del p.E326Dfs*19 Frameshift 9/11 - 1
17-7576870-C-T c.976G>A p.E326K Missense 9/11 - 4
17-7576870-C-A c.976G>T p.E326* Nonsense 9/11 - 7
17-7576870-C-G c.976G>C p.E326Q Missense 9/11 - 2
17-7576870-TCTCCATCCAGTG-T c.965_976del p.P322_E326delinsQ MultiAAMissense 9/11 - 1
17-7576867-ATTCTCCATCCAGTGGTTTCTTCT-A c.956_978del p.K319Ifs*10 Frameshift 9/11 - 1
17-7576872-C-G c.974G>C p.G325A Missense 9/11 - 1
17-7576872-C-A c.974G>T p.G325V Missense 9/11 - 6
17-7576872-C-T c.974G>A p.G325E Missense 9/11 - 1
17-7576873-C-T c.973G>A p.G325R Missense 9/11 - 3
17-7576873-C-G c.973G>C p.G325R Missense 9/11 - 3
17-7576873-C-A c.973G>T p.G325* Nonsense 9/11 - 8
17-7576875-T-C c.971A>G p.D324G Missense 9/11 - 1
17-7576875-T-G c.971A>C p.D324A Missense 9/11 - 1
17-7576876-C-G c.970G>C p.D324H Missense 9/11 - 4
17-7576876-C-T c.970G>A p.D324N Missense 9/11 - 1
17-7576877-C-T c.969G>A p.L323= Synonymous 9/11 - 1
17-7576877-C-CA c.968dup p.D324Gfs*13 Frameshift 9/11 - 1
17-7576878-AG-GC c.967_968delinsGC p.L323A Missense 9/11 - 2
17-7576878-A-AG c.967dup p.L323Pfs*14 Frameshift 9/11 - 1
17-7576880-TG-AT c.965_966delinsAT p.P322H Missense 9/11 - 1
17-7576881-G-A c.965C>T p.P322L Missense 9/11 - 1
17-7576879-GTGGTTTC-G c.960_966del p.K320Nfs*23 Frameshift 9/11 - 1
17-7576881-GG-TT c.964_965delinsAA p.P322K Missense 9/11 - 1
17-7576882-G-A c.964C>T p.P322S Missense 9/11 - 2
17-7576882-G-T c.964C>A p.P322T Missense 9/11 - 1
17-7576880-TG-T c.965del p.P322Hfs*23 Frameshift 9/11 - 2
17-7576884-T-C c.962A>G p.K321R Missense 9/11 - 3
17-7576884-TT-GC c.961_962delinsGC p.K321A Missense 9/11 - 5
17-7576884-TTTCTTCTTTG-T c.953_962del p.P318Hfs*24 Frameshift 9/11 - 1
17-7576882-GT-G c.963del p.K321Nfs*24 Frameshift 9/11 - 2
17-7576885-T-TA c.960_961insT p.K321* Nonsense 9/11 - 1
17-7576885-T-A c.961A>T p.K321* Nonsense 9/11 - 1
17-7576885-T-G c.961A>C p.K321Q Missense 9/11 - 1
17-7576884-TTC-T c.960_961del p.K321Tfs*15 Frameshift 9/11 - 1
17-7576886-C-G c.960G>C p.K320N Missense 9/11 - 6
17-7576886-C-A c.960G>T p.K320N Missense 9/11 - 2
17-7576886-C-T c.960G>A p.K320= Synonymous 9/11 - 1
17-7576887-T-C c.959A>G p.K320R Missense 9/11 - 19
17-7576887-TT-GC c.958_959delinsGC p.K320A Missense 9/11 - 4
17-7576887-T-G c.959A>C p.K320T Missense 9/11 - 1
17-7576887-CTTCTTTGG-C c.952_959del p.P318Efs*16 Frameshift 9/11 - 1
17-7576888-T-G c.958A>C p.K320Q Missense 9/11 - 14
17-7576888-T-A c.958A>T p.K320* Nonsense 9/11 - 3
17-7576888-T-TA c.957_958insT p.K320* Nonsense 9/11 - 1
17-7576889-C-G c.957G>C p.K319N Missense 9/11 - 1
17-7576889-C-A c.957G>T p.K319N Missense 9/11 - 1
17-7576888-T-TC c.957dup p.K320Efs*17 Frameshift 9/11 - 1
17-7576883-TTTC-T c.960_962del p.K321del InFrameDeletion 9/11 - 1
17-7576890-TT-AG c.955_956delinsCT p.K319L Missense 9/11 - 1
17-7576890-T-C c.956A>G p.K319R Missense 9/11 - 2
17-7576890-TT-GC c.955_956delinsGC p.K319A Missense 9/11 - 7
17-7576890-T-G c.956A>C p.K319T Missense 9/11 - 1
17-7576891-T-A c.955A>T p.K319* Nonsense 9/11 - 5
17-7576891-T-C c.955A>G p.K319E Missense 9/11 - 1
17-7576891-TTTGGCTGGGGAGAG-T c.942_955del p.S315Efs*17 Frameshift 9/11 - 1
17-7576894-G-C c.952C>G p.P318A Missense 9/11 - 2
17-7576894-G-GC c.951dup p.P318Afs*19 Frameshift 9/11 - 1
17-7576895-C-A c.951G>T p.Q317H Missense 9/11 - 1
17-7576895-C-G c.951G>C p.Q317H Missense 9/11 - 1
17-7576896-TG-GC c.949_950delinsGC p.Q317A Missense 9/11 - 1
17-7576896-T-C c.950A>G p.Q317R Missense 9/11 - 2
17-7576896-CT-C c.950del p.Q317Rfs*28 Frameshift 9/11 - 3
17-7576896-CTGGGG-C c.946_950del p.P316Afs*19 Frameshift 9/11 - 1
17-7576897-G-A c.949C>T p.Q317* Nonsense 9/11 - 50
17-7576897-G-T c.949C>A p.Q317K Missense 9/11 - 4
17-7576899-G-A c.947C>T p.P316L Missense 9/11 - 3
17-7576899-GG-AA c.946_947delinsTT p.P316F Missense 9/11 - 1
17-7576896-T-TG c.949dup p.Q317Pfs*20 Frameshift 9/11 - 2
17-7576896-TG-T c.949del p.Q317Sfs*28 Frameshift 9/11 - 11
17-7576900-G-T c.946C>A p.P316T Missense 9/11 - 2
17-7576898-GGGAGAGGAGCTGGT-G c.934_947del p.T312Pfs*20 Frameshift 9/11 - 1
17-7576901-A-C c.945T>G p.S315= Synonymous 9/11 - 2
17-7576901-A-G c.945T>C p.S315= Synonymous 9/11 - 2
17-7576901-A-T c.945T>A p.S315= Synonymous 9/11 - 2
17-7576900-G-GA c.945dup p.P316Sfs*21 Frameshift 9/11 - 3
17-7576901-GA-G c.945del p.Q317Sfs*28 Frameshift 9/11 - 2
17-7576902-G-A c.944C>T p.S315F Missense 9/11 - 4
17-7576902-GA-TC c.943_944inv p.S315D Missense 9/11 - 3
17-7576903-A-C c.943T>G p.S315A Missense 9/11 - 25
17-7576903-A-T c.943T>A p.S315T Missense 9/11 - 2
17-7576899-GGA-G c.945_946del p.Q317Afs*19 Frameshift 9/11 - 3
17-7576903-GA-G c.943del p.S315Lfs*30 Frameshift 9/11 - 1
17-7576903-A-G c.943T>C p.S315P Missense 9/11 - 1
17-7576905-G-A c.941C>T p.S314F Missense 9/11 - 2
17-7576906-A-C c.940T>G p.S314A Missense 9/11 - 5
17-7576906-A-G c.940T>C p.S314P Missense 9/11 - 2
17-7576906-GA-G c.940del p.S314Pfs*31 Frameshift 9/11 - 1
17-7576907-GCT-TCA c.937_939delinsTGA p.S313* Nonsense 9/11 - 1
17-7576908-C-G c.938G>C p.S313T Missense 9/11 - 2
17-7576906-A-AGCCACG c.939_940insCGTGGC p.S313_S314insRG InFrameInsertion 9/11 - 1
17-7576908-CT-GG c.937_938delinsCC p.S313P Missense 9/11 - 2
17-7576908-CT-GC c.937_938delinsGC p.S313A Missense 9/11 - 1
17-7576909-T-C c.937A>G p.S313G Missense 9/11 - 1
17-7576909-CT-C c.937del p.S313Afs*32 Frameshift 9/11 - 1
17-7576910-G-A c.936C>T p.T312= Synonymous 9/11 - 1
17-7576909-T-TGCCCAC c.936_937insGTGGGC p.T312_S313insVG InFrameInsertion 9/11 - 1
17-7576910-GG-CA c.935_936delinsTG p.T312M Missense 9/11 - 1
17-7576910-GG-CC c.935_936inv p.T312R Missense 9/11 - 1
17-7576908-CTGGTG-C c.933_937del p.N311Kfs*24 Frameshift 9/11 - 2
17-7576909-TG-T c.936del p.S313Afs*32 Frameshift 9/11 - 1
17-7576911-G-A c.935C>T p.T312I Missense 9/11 - 3
17-7576911-G-C c.935C>G p.T312S Missense 9/11 - 10
17-7576911-GT-TA c.934_935delinsTA p.T312Y Missense 9/11 - 1
17-7576912-T-A c.934A>T p.T312S Missense 9/11 - 1
17-7576912-GT-G c.934del p.T312Pfs*33 Frameshift 9/11 - 1
17-7576912-T-C c.934A>G p.T312A Missense 9/11 - 3
17-7576910-GGT-G c.934_935del p.T312Qfs*24 Frameshift 9/11 - 1
17-7576913-TG-T c.933del p.N311Kfs*34 Frameshift 9/11 - 4
17-7576913-GTT-TTG c.931_933delinsCAA p.N311Q Missense 9/11 - 1
17-7576913-G-A c.933C>T p.N311= Synonymous 9/11 - 1
17-7576914-TT-GC c.931_932delinsGC p.N311A Missense 9/11 - 2
17-7576912-TGTTGTTG-T c.927_933del p.N310Pfs*33 Frameshift 9/11 - 1
17-7576914-TT-CC c.931_932delinsGG p.N311G Missense 9/11 - 2
17-7576914-T-C c.932A>G p.N311S Missense 9/11 - 3
17-7576915-T-G c.931A>C p.N311H Missense 9/11 - 1
17-7576915-T-TA c.930_931insT p.N311* Nonsense 9/11 - 1
17-7576916-G-GA c.929_930insT p.N311Qfs*26 Frameshift 9/11 - 1
17-7576916-G-C c.930C>G p.N310K Missense 9/11 - 1
17-7576916-G-T c.930C>A p.N310K Missense 9/11 - 1
17-7576916-GTT-TTA c.928_930delinsTAA p.N310* Nonsense 9/11 - 1
17-7576917-TT-CA c.928_929delinsTG p.N310C Missense 9/11 - 1
17-7576918-T-C c.928A>G p.N310D Missense 9/11 - 3
17-7576916-GT-G c.929del p.N310Tfs*35 Frameshift 9/11 - 3
17-7576916-G-GT c.929dup p.N310Kfs*27 Frameshift 9/11 - 3
17-7576918-TTGGGC-T c.924_928del p.P309Qfs*26 Frameshift 9/11 - 1
17-7576919-G-A c.927C>T p.P309= Synonymous 9/11 - 3
17-7576919-G-C c.927C>G p.P309= Synonymous 9/11 - 1
17-7576919-G-T c.927C>A p.P309= Synonymous 9/11 - 1
17-7576920-G-A c.926C>T p.P309L Missense 9/11 - 1
17-7576921-G-A c.925C>T p.P309S Missense 9/11 - 85
17-7576918-TG-T c.927del p.N310Tfs*35 Frameshift 9/11 - 1
17-7576921-G-C c.925C>G p.P309A Missense 9/11 - 1
17-7576922-CAG-GTT c.922_924delinsAAC p.L308N Missense 9/11 - 1
17-7576922-GC-G c.924del p.N310Tfs*35 Frameshift 9/11 - 1
17-7576922-C-A c.924G>T p.L308= Synonymous 9/11 - 1
17-7576922-C-T c.924G>A p.L308= Synonymous 9/11 - 1
17-7576922-C-G c.924G>C p.L308= Synonymous 9/11 - 1
17-7576923-A-G c.923T>C p.L308P Missense 9/11 - 1
17-7576923-CAG-C c.922_923del p.L308Afs*28 Frameshift 9/11 - 1
17-7576924-G-C c.922C>G p.L308V Missense 9/11 - 2
17-7576924-G-GC c.921_922insG p.L308Afs*29 SpliceAcceptorInsertion 9/11 - 1
17-7576924-G-GA c.921_922insT p.L308Sfs*29 SpliceAcceptorInsertion 9/11 - 1
17-7576923-A-AG c.922dup p.L308Pfs*29 Frameshift 9/11 - 1
17-7576924-G-A c.922C>T p.L308= Synonymous 9/11 - 2
17-7576924-G-GT c.921dup p.L308Tfs*29 SpliceAcceptorInsertion 9/11 - 1
17-7576925-TG-GT c.920_921delinsAC p.A307D Missense 9/11 - 1
17-7576926-G-A c.920C>T p.A307V Missense 9/11 - 3
17-7576927-C-G c.920-1G>C - IntronicSNV - 8/10 2
17-7576927-C-A c.920-1G>T - IntronicSNV - 8/10 2
17-7576927-C-T c.920-1G>A - IntronicSNV - 8/10 2
17-7576928-T-C c.920-2A>G - IntronicSNV - 8/10 3
17-7576997-GCTTCTTGTCCTGCTTGCTTAC-G c.919+1_919+21del - SpliceDonorDeletion 8/11 8/10 1
17-7577001-C-T c.919+18G>A - IntronicSNV - 8/10 1
17-7577009-TGCTTGCTTA-T c.919+2_919+10del - IntronicDeletion - 8/10 1
17-7577012-T-G c.919+7A>C - IntronicSNV - 8/10 1
17-7577017-A-C c.919+2T>G - IntronicSNV - 8/10 1
17-7577018-C-A c.919+1G>T - IntronicSNV - 8/10 11
17-7577018-C-T c.919+1G>A - IntronicSNV - 8/10 14
17-7577018-C-G c.919+1G>C - IntronicSNV - 8/10 1
17-7577019-C-T c.919G>A p.A307T Missense 8/11 - 1
17-7577017-A-AC c.919+1dup - SpliceDonorInsertion 8/11 - 1
17-7577017-AC-A c.919+1del - IntronicDeletion 8/11 - 1
17-7577019-C-A c.919G>T p.A307S Missense 8/11 - 1
17-7577020-TC-AT c.917_918delinsAT p.R306H Missense 8/11 - 2
17-7577020-TCG-ACA c.916_918delinsTGT p.R306C Missense 8/11 - 4
17-7577020-TCG-GTT c.916_918delinsAAC p.R306N Missense 8/11 - 1
17-7577018-CCTCGCTTAGTGCTCCCTGGGGG-C c.898_919del p.P300Hfs*38 SpliceDonorDeletion 8/11 - 1
17-7577019-C-CTGTG c.918_919insCACA p.A307Hfs*31 SpliceDonorInsertion 8/11 - 1
17-7577021-CG-GT c.916_917delinsAC p.R306T Missense 8/11 - 1
17-7577021-CG-GC c.916_917delinsGC p.R306A Missense 8/11 - 5
17-7577020-T-TC c.917dup p.A307Sfs*30 Frameshift 8/11 - 1
17-7577021-C-T c.917G>A p.R306Q Missense 8/11 - 8
17-7577021-C-G c.917G>C p.R306P Missense 8/11 - 2
17-7577021-TC-T c.917del p.R306Qfs*39 Frameshift 8/11 - 1
17-7577021-CG-TT c.916_917delinsAA p.R306K Missense 8/11 - 1
17-7577022-G-A c.916C>T p.R306* Nonsense 8/11 - 186
17-7577022-G-T c.916C>A p.R306= Synonymous 8/11 - 4
17-7577022-CG-C c.916del p.R306Efs*39 Frameshift 8/11 - 3
17-7577020-T-G c.918A>C p.R306= Synonymous 8/11 - 1
17-7577020-T-C c.918A>G p.R306= Synonymous 8/11 - 1
17-7577020-T-A c.918A>T p.R306= Synonymous 8/11 - 1
17-7577022-G-C c.916C>G p.R306G Missense 8/11 - 1
17-7577023-GCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTT-G c.857_915del p.E286Afs*31 InFrameDeletion 8/11 - 1
17-7577023-C-G c.915G>C p.K305N Missense 8/11 - 3
17-7577023-C-A c.915G>T p.K305N Missense 8/11 - 3
17-7577023-CT-GA c.914_915delinsTC p.K305I Missense 8/11 - 1
17-7577023-C-T c.915G>A p.K305= Synonymous 8/11 - 2
17-7577024-TT-GC c.913_914delinsGC p.K305A Missense 8/11 - 6
17-7577024-T-A c.914A>T p.K305M Missense 8/11 - 2
17-7577024-T-C c.914A>G p.K305R Missense 8/11 - 3
17-7577025-T-A c.913A>T p.K305* Nonsense 8/11 - 8
17-7577025-T-G c.913A>C p.K305Q Missense 8/11 - 1
17-7577026-TAG-T c.911_912del p.T304Kfs*32 Frameshift 8/11 - 1
17-7577025-T-TA c.912dup p.K305* Nonsense 8/11 - 2
17-7577026-TA-T c.912del p.K305Sfs*40 Frameshift 8/11 - 1
17-7577026-A-AT c.911_912insA p.K305* Nonsense 8/11 - 4
17-7577027-G-A c.911C>T p.T304I Missense 8/11 - 3
17-7577027-G-T c.911C>A p.T304N Missense 8/11 - 1
17-7577027-AG-A c.911del p.T304Ifs*41 Frameshift 8/11 - 2
17-7577027-G-GGT c.910_911insAC p.T304Nfs*42 Frameshift 8/11 - 1
17-7577027-GT-CA c.910_911delinsTG p.T304C Missense 8/11 - 1
17-7577028-T-C c.910A>G p.T304A Missense 8/11 - 3
17-7577027-G-GTTCTTCT c.910_911insAGAAGAA p.T304Kfs*4 Frameshift 8/11 - 1
17-7577026-AGTGCTCCCTG-A c.902_911del p.P301Lfs*41 Frameshift 8/11 - 1
17-7577029-GCT-CTC c.907_909delinsGAG p.S303E Missense 8/11 - 2
17-7577030-CT-GC c.907_908delinsGC p.S303A Missense 8/11 - 2
17-7577030-CT-AA c.907_908delinsTT p.S303F Missense 8/11 - 1
17-7577030-C-T c.908G>A p.S303N Missense 8/11 - 2
17-7577030-C-A c.908G>T p.S303I Missense 8/11 - 1
17-7577028-TGCTCCCTGG-T c.901_909del p.P301_S303del InFrameDeletion 8/11 - 1
17-7577030-GCTCCC-G c.904_908del p.G302Hfs*2 Frameshift 8/11 - 1
17-7577031-T-C c.907A>G p.S303G Missense 8/11 - 1
17-7577032-CCC-GTT c.904_906delinsAAC p.G302N Missense 8/11 - 1
17-7577032-CCC-GCT c.904_906delinsAGC p.G302S Missense 8/11 - 1
17-7577032-C-A c.906G>T p.G302= Synonymous 8/11 - 1
17-7577032-C-T c.906G>A p.G302= Synonymous 8/11 - 1
17-7577032-C-G c.906G>C p.G302= Synonymous 8/11 - 1
17-7577032-CCC-ACA c.904_906delinsTGT p.G302C Missense 8/11 - 1
17-7577033-C-A c.905G>T p.G302V Missense 8/11 - 1
17-7577033-C-T c.905G>A p.G302E Missense 8/11 - 5
17-7577028-TGCTCCCTGGGGGCA-T c.896_909del p.L299Hfs*2 Frameshift 8/11 - 1
17-7577033-CC-GT c.904_905delinsAC p.G302T Missense 8/11 - 1
17-7577031-TC-T c.906del p.S303Afs*42 Frameshift 8/11 - 2
17-7577034-C-T c.904G>A p.G302R Missense 8/11 - 1
17-7577034-C-G c.904G>C p.G302R Missense 8/11 - 1
17-7577032-CCCTGGGGGCAGCT-C c.893_905del p.E298Gfs*43 Frameshift 8/11 - 1
17-7577034-C-CT c.903dup p.G302Rfs*4 Frameshift 8/11 - 2
17-7577035-CT-C c.903del p.S303Afs*42 Frameshift 8/11 - 2
17-7577035-T-TC c.902_903insG p.G302Rfs*4 Frameshift 8/11 - 1
17-7577035-T-C c.903A>G p.P301= Synonymous 8/11 - 1
17-7577035-TGG-ACA c.901_903delinsTGT p.P301C Missense 8/11 - 1
17-7577033-CCTGGGGGCAGCT-C c.893_904del p.E298_P301del InFrameDeletion 8/11 - 1
17-7577036-G-A c.902C>T p.P301L Missense 8/11 - 94
17-7577036-G-T c.902C>A p.P301Q Missense 8/11 - 2
17-7577033-CCTGGGGGCAGCTCGTGGTGAGG-C c.883_904del p.P295Gfs*43 Frameshift 8/11 - 1
17-7577036-G-C c.902C>G p.P301R Missense 8/11 - 2
17-7577037-G-A c.901C>T p.P301S Missense 8/11 - 64
17-7577037-G-GA c.900_901insT p.P301Sfs*5 Frameshift 8/11 - 1
17-7577038-G-C c.900C>G p.P300= Synonymous 8/11 - 3
17-7577038-GGG-TTA c.898_900delinsTAA p.P300* Nonsense 8/11 - 1
17-7577038-G-A c.900C>T p.P300= Synonymous 8/11 - 2
17-7577038-G-T c.900C>A p.P300= Synonymous 8/11 - 2
17-7577039-G-A c.899C>T p.P300L Missense 8/11 - 3
17-7577040-G-A c.898C>T p.P300S Missense 8/11 - 3
17-7577035-TG-T c.902del p.P301Qfs*44 Frameshift 8/11 - 12
17-7577040-GGC-G c.897_898del p.P301Rfs*4 Frameshift 8/11 - 1
17-7577035-T-TG c.902dup p.G302Rfs*4 Frameshift 8/11 - 2
17-7577040-G-C c.898C>G p.P300A Missense 8/11 - 1
17-7577041-CAG-GAT c.895_897delinsATC p.L299I Missense 8/11 - 1
17-7577041-C-A c.897G>T p.L299= Synonymous 8/11 - 1
17-7577041-C-T c.897G>A p.L299= Synonymous 8/11 - 1
17-7577041-C-G c.897G>C p.L299= Synonymous 8/11 - 1
17-7577043-G-A c.895C>T p.L299= Synonymous 8/11 - 2
17-7577039-GGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGC-G c.848_898del p.R283_L299del InFrameDeletion 8/11 - 1
17-7577043-G-T c.895C>A p.L299M Missense 8/11 - 1
17-7577044-C-G c.894G>C p.E298D Missense 8/11 - 12
17-7577044-C-A c.894G>T p.E298D Missense 8/11 - 12
17-7577044-CTC-GTT c.892_894delinsAAC p.E298N Missense 8/11 - 1
17-7577042-AGCTC-A c.892_895del p.E298Cfs*46 Frameshift 8/11 - 1
17-7577045-T-G c.893A>C p.E298A Missense 8/11 - 2
17-7577045-T-C c.893A>G p.E298G Missense 8/11 - 1
17-7577046-C-A c.892G>T p.E298* Nonsense 8/11 - 65
17-7577046-C-G c.892G>C p.E298Q Missense 8/11 - 7
17-7577046-C-T c.892G>A p.E298K Missense 8/11 - 7
17-7577047-G-A c.891C>T p.H297= Synonymous 8/11 - 2
17-7577043-GCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTC-G c.856_894del p.E286_E298del InFrameDeletion 8/11 - 1
17-7577048-T-G c.890A>C p.H297P Missense 8/11 - 1
17-7577048-T-C c.890A>G p.H297R Missense 8/11 - 1
17-7577048-TG-GC c.889_890delinsGC p.H297A Missense 8/11 - 4
17-7577048-TG-CC c.889_890delinsGG p.H297G Missense 8/11 - 1
17-7577047-GTGGTGAGGCTCCCCTTTCTTGCGGAGAT-G c.863_890del p.N288Tfs*48 Frameshift 8/11 - 1
17-7577049-G-A c.889C>T p.H297Y Missense 8/11 - 5
17-7577049-G-T c.889C>A p.H297N Missense 8/11 - 1
17-7577048-T-TG c.889dup p.H297Pfs*9 Frameshift 8/11 - 1
17-7577050-G-A c.888C>T p.H296= Synonymous 8/11 - 1
17-7577051-T-C c.887A>G p.H296R Missense 8/11 - 4
17-7577051-GT-G c.887del p.H296Pfs*49 Frameshift 8/11 - 1
17-7577052-G-A c.886C>T p.H296Y Missense 8/11 - 2
17-7577053-A-G c.885T>C p.P295= Synonymous 8/11 - 3
17-7577054-G-A c.884C>T p.P295L Missense 8/11 - 4
17-7577054-G-C c.884C>G p.P295R Missense 8/11 - 2
17-7577054-G-T c.884C>A p.P295H Missense 8/11 - 2
17-7577055-G-A c.883C>T p.P295S Missense 8/11 - 2
17-7577056-GCTCCCCTTTC-G c.873_882del p.K291Nfs*51 Frameshift 8/11 - 1
17-7577056-C-T c.882G>A p.E294= Synonymous 8/11 - 1
17-7577056-C-CT c.881dup p.P295Afs*11 Frameshift 8/11 - 1
17-7577057-T-C c.881A>G p.E294G Missense 8/11 - 2
17-7577058-C-A c.880G>T p.E294* Nonsense 8/11 - 53
17-7577058-C-T c.880G>A p.E294K Missense 8/11 - 6
17-7577058-C-CA c.879_880insT p.E294* Nonsense 8/11 - 2
17-7577059-C-T c.879G>A p.G293= Synonymous 8/11 - 1
17-7577055-GCTCCCCTTTCTTGCGGAGATTCTCTTC-G c.856_882del p.E286_E294del InFrameDeletion 8/11 - 2
17-7577056-CTCCCCTT-C c.875_881del p.K292Sfs*51 Frameshift 8/11 - 1
17-7577060-C-T c.878G>A p.G293E Missense 8/11 - 4
17-7577058-CCCCTTTCTTG-C c.870_879del p.K291Sfs*51 Frameshift 8/11 - 1
17-7577060-CCCTTTCTTGCG-C c.868_878del p.R290Gfs*12 Frameshift 8/11 - 1
17-7577057-TC-T c.880del p.E294Sfs*51 Frameshift 8/11 - 10
17-7577061-C-T c.877G>A p.G293R Missense 8/11 - 8
17-7577061-C-G c.877G>C p.G293R Missense 8/11 - 3
17-7577061-C-A c.877G>T p.G293W Missense 8/11 - 8
17-7577057-T-TC c.880dup p.E294Gfs*12 Frameshift 8/11 - 2
17-7577061-CCT-C c.876_877del p.E294Afs*11 Frameshift 8/11 - 1
17-7577060-CCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACA-C c.819_877del p.V274Gfs*12 InFrameDeletion 8/11 - 1
17-7577062-TTT-ACA c.874_876delinsTGT p.K292C Missense 8/11 - 6
17-7577062-T-C c.876A>G p.K292= Synonymous 8/11 - 1
17-7577063-T-A c.875A>T p.K292I Missense 8/11 - 4
17-7577063-T-C c.875A>G p.K292R Missense 8/11 - 8
17-7577063-T-G c.875A>C p.K292T Missense 8/11 - 1
17-7577063-TT-GC c.874_875delinsGC p.K292A Missense 8/11 - 1
17-7577063-T-TA c.874_875insT p.K292Ifs*14 Frameshift 8/11 - 1
17-7577061-CT-C c.876del p.E294Sfs*51 Frameshift 8/11 - 2
17-7577061-C-CT c.876dup p.G293Rfs*13 Frameshift 8/11 - 1
17-7577060-CCTTT-C c.874_877del p.K292Gfs*52 Frameshift 8/11 - 1
17-7577064-T-A c.874A>T p.K292* Nonsense 8/11 - 3
17-7577064-T-C c.874A>G p.K292E Missense 8/11 - 1
17-7577064-TTCTTGCGG-T c.867_874del p.K291Gfs*12 Frameshift 8/11 - 1
17-7577065-CTT-ATG c.871_873delinsCAT p.K291H Missense 8/11 - 1
17-7577065-C-G c.873G>C p.K291N Missense 8/11 - 4
17-7577065-C-A c.873G>T p.K291N Missense 8/11 - 3
17-7577065-TC-T c.873del p.E294Sfs*51 Frameshift 8/11 - 4
17-7577065-C-T c.873G>A p.K291= Synonymous 8/11 - 1
17-7577065-CTT-ACA c.871_873delinsTGT p.K291C Missense 8/11 - 1
17-7577063-TTC-T c.873_874del p.K292Rfs*13 Frameshift 8/11 - 1
17-7577065-TCTTGCGG-T c.867_873del p.R290Kfs*53 Frameshift 8/11 - 1
17-7577066-T-C c.872A>G p.K291R Missense 8/11 - 8
17-7577066-T-G c.872A>C p.K291T Missense 8/11 - 1
17-7577067-T-A c.871A>T p.K291* Nonsense 8/11 - 11
17-7577067-T-C c.871A>G p.K291E Missense 8/11 - 4
17-7577067-T-G c.871A>C p.K291Q Missense 8/11 - 1
17-7577068-GC-TT c.869_870delinsAA p.R290Q Missense 8/11 - 1
17-7577068-GCG-CTC c.868_870delinsGAG p.R290E Missense 8/11 - 2
17-7577066-TTGCGGAGA-T c.864_871del p.N288Kfs*15 Frameshift 8/11 - 1
17-7577066-TTGCGGAGATTC-T c.861_871del p.N288Efs*14 Frameshift 8/11 - 1
17-7577069-C-A c.869G>T p.R290L Missense 8/11 - 4
17-7577069-C-T c.869G>A p.R290H Missense 8/11 - 29
17-7577067-TGC-T c.869_870del p.R290Qfs*15 Frameshift 8/11 - 2
17-7577069-C-G c.869G>C p.R290P Missense 8/11 - 4
17-7577069-GCGGAGAT-G c.863_869del p.N288Tfs*55 Frameshift 8/11 - 1
17-7577070-G-A c.868C>T p.R290C Missense 8/11 - 16
17-7577070-G-C c.868C>G p.R290G Missense 8/11 - 2
17-7577070-G-T c.868C>A p.R290S Missense 8/11 - 1
17-7577068-GCGGAGATT-G c.862_869del p.N288Qfs*15 Frameshift 8/11 - 1
17-7577069-CG-C c.868del p.R290Afs*55 Frameshift 8/11 - 4
17-7577068-G-GCGGTTTCCGC c.869_870insGCGGAAACCG p.K291Rfs*18 Frameshift 8/11 - 1
17-7577071-G-A c.867C>T p.L289= Synonymous 8/11 - 1
17-7577071-G-C c.867C>G p.L289= Synonymous 8/11 - 1
17-7577071-G-T c.867C>A p.L289= Synonymous 8/11 - 1
17-7577072-AG-GC c.865_866delinsGC p.L289A Missense 8/11 - 2
17-7577071-G-GA c.866dup p.R290Pfs*16 Frameshift 8/11 - 1
17-7577072-GAGATTCTCTTCCTCT-G c.852_866del p.E285_L289del InFrameDeletion 8/11 - 1
17-7577072-A-G c.866T>C p.L289P Missense 8/11 - 1
17-7577073-G-A c.865C>T p.L289F Missense 8/11 - 6
17-7577073-G-GAA c.864_865insTT p.L289Ffs*57 Frameshift 8/11 - 1
17-7577074-A-C c.864T>G p.N288K Missense 8/11 - 2
17-7577074-A-T c.864T>A p.N288K Missense 8/11 - 2
17-7577074-GATTCTCTTCCTC-G c.853_864del p.E285_N288del InFrameDeletion 8/11 - 1
17-7577073-G-GA c.864dup p.L289Sfs*17 Frameshift 8/11 - 1
17-7577075-T-A c.863A>T p.N288I Missense 8/11 - 2
17-7577075-T-C c.863A>G p.N288S Missense 8/11 - 2
17-7577075-ATTCTCTTCCTCTGTGCGCCGGTCTCT-A c.838_863del p.R280Sfs*17 Frameshift 8/11 - 1
17-7577075-ATTCTCTTCCTCT-A c.852_863del p.E285_N288del InFrameDeletion 8/11 - 1
17-7577075-ATTCTCTTC-A c.856_863del p.E286Sfs*17 Frameshift 8/11 - 1
17-7577074-A-AT c.863dup p.N288Kfs*18 Frameshift 8/11 - 2
17-7577074-ATTCTCTTCCTCTG-A c.851_863del p.T284Ifs*57 Frameshift 8/11 - 2
17-7577076-T-C c.862A>G p.N288D Missense 8/11 - 3
17-7577074-AT-A c.863del p.N288Ifs*57 Frameshift 8/11 - 1
17-7577076-T-A c.862A>T p.N288Y Missense 8/11 - 2
17-7577076-TTCTCTTCCTCTGTGCGCCGGTCTCTCC-T c.836_862del p.G279_N288delinsD MultiAAMissense 8/11 - 1
17-7577076-T-TA c.861_862insT p.N288* Nonsense 8/11 - 1
17-7577077-C-G c.861G>C p.E287D Missense 8/11 - 8
17-7577077-C-A c.861G>T p.E287D Missense 8/11 - 7
17-7577077-C-T c.861G>A p.E287= Synonymous 8/11 - 3
17-7577076-T-TC c.861dup p.N288Efs*18 Frameshift 8/11 - 1
17-7577076-TCTCTTCCTCTGTGCGC-T c.846_861del p.R283Ifs*57 Frameshift 8/11 - 2
17-7577078-T-C c.860A>G p.E287G Missense 8/11 - 1
17-7577074-ATTCTC-A c.859_863del p.E287Sfs*17 Frameshift 8/11 - 1
17-7577078-CTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTT-C c.802_860del p.N268Efs*18 InFrameDeletion 8/11 - 1
17-7577078-T-G c.860A>C p.E287A Missense 8/11 - 1
17-7577076-TCTCTTCCTCTGTGCGCCGGTCTCTCC-T c.836_861del p.G279Efs*18 Frameshift 8/11 - 1
17-7577079-C-T c.859G>A p.E287K Missense 8/11 - 8
17-7577079-C-A c.859G>T p.E287* Nonsense 8/11 - 22
17-7577079-TC-T c.859del p.E287Rfs*58 Frameshift 8/11 - 2
17-7577079-C-G c.859G>C p.E287Q Missense 8/11 - 3
17-7577080-T-G c.858A>C p.E286D Missense 8/11 - 3
17-7577080-T-C c.858A>G p.E286= Synonymous 8/11 - 1
17-7577080-T-A c.858A>T p.E286D Missense 8/11 - 2
17-7577078-TCTTCCTCTGTGCG-T c.847_859del p.T284Ifs*57 Frameshift 8/11 - 1
17-7577081-T-C c.857A>G p.E286G Missense 8/11 - 21
17-7577081-T-A c.857A>T p.E286V Missense 8/11 - 16
17-7577081-T-G c.857A>C p.E286A Missense 8/11 - 5
17-7577081-TTC-T c.856_857del p.E286Rfs*19 Frameshift 8/11 - 1
17-7577079-CT-C c.858del p.E287Rfs*58 Frameshift 8/11 - 1
17-7577079-CTTCCTCTG-C c.851_858del p.T284Rfs*19 Frameshift 8/11 - 1
17-7577082-C-T c.856G>A p.E286K Missense 8/11 - 108
17-7577082-C-G c.856G>C p.E286Q Missense 8/11 - 11
17-7577082-C-A c.856G>T p.E286* Nonsense 8/11 - 24
17-7577083-CTC-ACCCCAAGG c.853_855delinsCCTTGGGGT p.E285delinsPWG MultiAAMissense 8/11 - 1
17-7577083-C-A c.855G>T p.E285D Missense 8/11 - 3
17-7577083-C-G c.855G>C p.E285D Missense 8/11 - 2
17-7577083-CCTCTG-C c.851_855del p.T284Rfs*20 Frameshift 8/11 - 1
17-7577084-T-A c.854A>T p.E285V Missense 8/11 - 20
17-7577084-TCTGTGCGCCGGTCTCTCCC-CCCCAAGG c.835_854delinsCCTTGGGG p.G279_E285delinsPWG MultiAAMissense 8/11 - 1
17-7577080-TTCCTCTGTGCGCCGGTCTC-T c.839_857del p.R280Kfs*59 Frameshift 8/11 - 2
17-7577084-T-G c.854A>C p.E285A Missense 8/11 - 4
17-7577084-TC-AG c.853_854delinsCT p.E285L Missense 8/11 - 2
17-7577084-T-C c.854A>G p.E285G Missense 8/11 - 1
17-7577085-C-T c.853G>A p.E285K Missense 8/11 - 199
17-7577085-C-A c.853G>T p.E285* Nonsense 8/11 - 19
17-7577085-TCTGTGCGCCGGTCTCTCCCAGGACAGGCACAA-T c.822_853del p.C275Gfs*20 Frameshift 8/11 - 2
17-7577085-C-G c.853G>C p.E285Q Missense 8/11 - 9
17-7577085-C-CA c.852_853insT p.E285* Nonsense 8/11 - 1
17-7577086-TG-GT c.851_852delinsAC p.T284N Missense 8/11 - 2
17-7577086-T-C c.852A>G p.T284= Synonymous 8/11 - 1
17-7577085-C-CT c.852dup p.E285Rfs*21 Frameshift 8/11 - 2
17-7577087-G-A c.851C>T p.T284I Missense 8/11 - 1
17-7577087-G-C c.851C>G p.T284R Missense 8/11 - 7
17-7577087-GT-TC c.850_851delinsGA p.T284E Missense 8/11 - 2
17-7577087-GT-TA c.850_851delinsTA p.T284* Nonsense 8/11 - 1
17-7577088-T-G c.850A>C p.T284P Missense 8/11 - 12
17-7577085-CTG-C c.851_852del p.T284Rfs*21 Frameshift 8/11 - 2
17-7577088-T-C c.850A>G p.T284A Missense 8/11 - 4
17-7577088-T-A c.850A>T p.T284S Missense 8/11 - 4
17-7577087-G-GTCC c.850_851insGGA p.R283dup InFrameInsertion 8/11 - 1
17-7577089-GCG-TCA c.847_849delinsTGA p.R283* Nonsense 8/11 - 4
17-7577089-GC-TT c.848_849delinsAA p.R283Q Missense 8/11 - 4
17-7577089-GCG-CCA c.847_849delinsTGG p.R283W Missense 8/11 - 3
17-7577089-TGCGCCGG-T c.843_849del p.D281Efs*62 Frameshift 8/11 - 1
17-7577088-T-TG c.849dup p.T284Hfs*22 Frameshift 8/11 - 1
17-7577089-GCG-CTT c.847_849delinsAAG p.R283K Missense 8/11 - 1
17-7577090-C-A c.848G>T p.R283L Missense 8/11 - 2
17-7577090-C-G c.848G>C p.R283P Missense 8/11 - 44
17-7577090-GCGCC-G c.845_848del p.R282Pfs*62 Frameshift 8/11 - 2
17-7577090-C-T c.848G>A p.R283H Missense 8/11 - 31
17-7577090-CG-TC c.847_848delinsGA p.R283D Missense 8/11 - 1
17-7577089-G-GCCC c.848_849insGGG p.R283_T284insG InFrameInsertion 8/11 - 1
17-7577090-CG-GC c.847_848delinsGC p.R283A Missense 8/11 - 1
17-7577091-G-A c.847C>T p.R283C Missense 8/11 - 58
17-7577091-G-C c.847C>G p.R283G Missense 8/11 - 4
17-7577091-G-T c.847C>A p.R283S Missense 8/11 - 5
17-7577088-TGC-T c.848_849del p.R283Hfs*22 Frameshift 8/11 - 2
17-7577089-GCGCCGGTCT-G c.840_848del p.R280_R283delinsS MultiAAMissense 8/11 - 1
17-7577089-GCGC-G c.846_848del p.R283del InFrameDeletion 8/11 - 3
17-7577092-CC-AT c.845_846delinsAT p.R282H Missense 8/11 - 13
17-7577092-CCG-ATA c.844_846delinsTAT p.R282Y Missense 8/11 - 1
17-7577092-CCG-GAT c.844_846delinsATC p.R282I Missense 8/11 - 1
17-7577093-C-T c.845G>A p.R282Q Missense 8/11 - 51
17-7577093-C-G c.845G>C p.R282P Missense 8/11 - 24
17-7577092-C-CCATATT c.845_846insAATATG p.R282_R283insIW InFrameInsertion 8/11 - 1
17-7577093-C-A c.845G>T p.R282L Missense 8/11 - 7
17-7577091-GC-G c.846del p.R283Afs*62 Frameshift 8/11 - 3
17-7577093-CG-AT c.844_845delinsAT p.R282M Missense 8/11 - 1
17-7577093-C-CT c.844_845insA p.R282Qfs*24 Frameshift 8/11 - 1
17-7577093-C-CA c.844_845insT p.R282Lfs*24 Frameshift 8/11 - 1
17-7577093-CG-GC c.844_845delinsGC p.R282A Missense 8/11 - 4
17-7577093-CG-TA c.844_845delinsTA p.R282* Nonsense 8/11 - 1
17-7577093-CG-TC c.844_845delinsGA p.R282E Missense 8/11 - 1
17-7577094-G-A c.844C>T p.R282W Missense 8/11 - 587
17-7577094-G-C c.844C>G p.R282G Missense 8/11 - 57
17-7577094-G-T c.844C>A p.R282= Synonymous 8/11 - 4
17-7577092-C-T c.846G>A p.R282= Synonymous 8/11 - 4
17-7577092-C-G c.846G>C p.R282= Synonymous 8/11 - 3
17-7577092-C-A c.846G>T p.R282= Synonymous 8/11 - 3
17-7577094-GG-AT c.843_844delinsAT p.D281_R282delinsEW MultiAAMissense 8/11 - 1
17-7577092-CCGGTCT-C c.840_845del p.D281_R282del InFrameDeletion 8/11 - 1
17-7577095-G-C c.843C>G p.D281E Missense 8/11 - 34
17-7577095-G-T c.843C>A p.D281E Missense 8/11 - 40
17-7577093-CG-C c.844del p.R282Gfs*63 Frameshift 8/11 - 2
17-7577092-CCGGTCTCTCCCAGGACAGGCACAAACA-C c.819_845del p.V274_R282del InFrameDeletion 8/11 - 1
17-7577095-GGTCTCT-G c.838_843del p.D281_R282del InFrameDeletion 8/11 - 1
17-7577096-T-A c.842A>T p.D281V Missense 8/11 - 18
17-7577096-T-C c.842A>G p.D281G Missense 8/11 - 86
17-7577096-T-G c.842A>C p.D281A Missense 8/11 - 7
17-7577096-GT-G c.842del p.D281Afs*64 Frameshift 8/11 - 1
17-7577094-GGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAA-G c.808_843del p.F270_D281del InFrameDeletion 8/11 - 1
17-7577096-GTCTCTCCCAGGACA-G c.829_842del p.C277Pfs*24 Frameshift 8/11 - 1
17-7577096-GTCTCTC-G c.837_842del p.D281_R282del InFrameDeletion 8/11 - 1
17-7577097-C-A c.841G>T p.D281Y Missense 8/11 - 26
17-7577097-C-G c.841G>C p.D281H Missense 8/11 - 34
17-7577097-C-T c.841G>A p.D281N Missense 8/11 - 46
17-7577097-TCTCTCCCAGGACAGGCACAAACACGC-T c.816_841del p.R273Pfs*24 Frameshift 8/11 - 1
17-7577098-T-G c.840A>C p.R280S Missense 8/11 - 16
17-7577098-T-A c.840A>T p.R280S Missense 8/11 - 33
17-7577098-TCT-ACA c.838_840delinsTGT p.R280C Missense 8/11 - 10
17-7577098-TCT-ATG c.838_840delinsCAT p.R280H Missense 8/11 - 14
17-7577098-TCT-CCA c.838_840delinsTGG p.R280W Missense 8/11 - 2
17-7577098-T-C c.840A>G p.R280= Synonymous 8/11 - 3
17-7577096-TCTCTCCCAGGACAGGCA-T c.825_841del p.C275* Frameshift 8/11 - 1
17-7577097-C-CTT c.840_841insAA p.D281Kfs*65 Frameshift 8/11 - 1
17-7577098-TCT-GTC c.838_840delinsGAC p.R280D Missense 8/11 - 1
17-7577098-TC-CA c.839_840delinsTG p.R280M Missense 8/11 - 1
17-7577096-TCTCTCCCAGGACAGG-T c.827_841del p.A276_R280del InFrameDeletion 8/11 - 1
17-7577095-GTCTC-G c.839_842del p.R280Tfs*64 Frameshift 8/11 - 2
17-7577096-TCTCTCCCAGGACAGGCACAAA-T c.821_841del p.V274_R280del InFrameDeletion 8/11 - 1
17-7577096-TCTCTCC-T c.836_841del p.G279_R280del InFrameDeletion 8/11 - 1
17-7577099-C-T c.839G>A p.R280K Missense 8/11 - 409
17-7577099-C-G c.839G>C p.R280T Missense 8/11 - 107
17-7577099-C-A c.839G>T p.R280I Missense 8/11 - 39
17-7577099-C-CGGGA c.838_839insTCCC p.R280Ifs*27 Frameshift 8/11 - 1
17-7577099-CT-AG c.838_839inv p.R280L Missense 8/11 - 5
17-7577099-CT-GC c.838_839delinsGC p.R280A Missense 8/11 - 3
17-7577099-CT-TG c.838_839delinsCA p.R280Q Missense 8/11 - 1
17-7577098-T-TC c.839dup p.D281Rfs*25 Frameshift 8/11 - 1
17-7577100-T-TA c.837_838insT p.R280* Nonsense 8/11 - 1
17-7577100-T-C c.838A>G p.R280G Missense 8/11 - 58
17-7577100-T-A c.838A>T p.R280* Nonsense 8/11 - 6
17-7577100-T-G c.838A>C p.R280= Synonymous 8/11 - 2
17-7577100-CTCCCAGG-C c.832_838del p.P278Efs*65 Frameshift 8/11 - 1
17-7577098-TCTCCCAGGA-T c.831_839del p.C277_R280delins* MultiAAMissense 8/11 - 1
17-7577095-GTC-G c.841_842del p.D281Pfs*24 Frameshift 8/11 - 1
17-7577101-TCCC-T c.835_837del p.G279del InFrameDeletion 8/11 - 1
17-7577102-C-T c.836G>A p.G279E Missense 8/11 - 47
17-7577102-C-A c.836G>T p.G279V Missense 8/11 - 1
17-7577102-C-G c.836G>C p.G279A Missense 8/11 - 1
17-7577103-C-A c.835G>T p.G279W Missense 8/11 - 5
17-7577103-CCAGGACAG-C c.828_835del p.C277Efs*26 Frameshift 8/11 - 1
17-7577100-TC-T c.837del p.R280Efs*65 Frameshift 8/11 - 6
17-7577103-C-T c.835G>A p.G279R Missense 8/11 - 12
17-7577103-C-G c.835G>C p.G279R Missense 8/11 - 6
17-7577103-C-CA c.834dup p.G279Wfs*27 Frameshift 8/11 - 1
17-7577105-G-C c.833C>G p.P278R Missense 8/11 - 58
17-7577105-G-A c.833C>T p.P278L Missense 8/11 - 63
17-7577105-G-T c.833C>A p.P278H Missense 8/11 - 21
17-7577105-GG-AA c.832_833delinsTT p.P278F Missense 8/11 - 2
17-7577105-GG-AT c.832_833delinsAT p.P278I Missense 8/11 - 1
17-7577105-AGGACAGGCACAAAC-A c.820_833del p.V274Wfs*27 Frameshift 8/11 - 1
17-7577106-G-T c.832C>A p.P278T Missense 8/11 - 24
17-7577106-G-C c.832C>G p.P278A Missense 8/11 - 45
17-7577106-G-A c.832C>T p.P278S Missense 8/11 - 108
17-7577104-AG-A c.833del p.P278Lfs*67 Frameshift 8/11 - 4
17-7577103-CAGGACAGGCACAAACACGCACCTCAA-C c.809_834del p.F270Wfs*27 Frameshift 8/11 - 1
17-7577106-GGACAGGCACA-G c.823_832del p.C275Lfs*67 Frameshift 8/11 - 1
17-7577107-A-T c.831T>A p.C277* Nonsense 8/11 - 6
17-7577107-A-G c.831T>C p.C277= Synonymous 8/11 - 1
17-7577107-A-C c.831T>G p.C277W Missense 8/11 - 6
17-7577107-ACA-TTG c.829_831delinsCAA p.C277Q Missense 8/11 - 1
17-7577107-GACA-G c.829_831del p.C277del InFrameDeletion 8/11 - 2
17-7577102-CCAGGA-C c.831_835del p.C277Wfs*27 Frameshift 8/11 - 1
17-7577108-C-A c.830G>T p.C277F Missense 8/11 - 80
17-7577108-C-T c.830G>A p.C277Y Missense 8/11 - 31
17-7577108-CA-TT c.829_830delinsAA p.C277N Missense 8/11 - 1
17-7577108-CA-GC c.829_830delinsGC p.C277A Missense 8/11 - 10
17-7577108-ACAGGC-A c.826_830del p.A276Sfs*28 Frameshift 8/11 - 1
17-7577108-CA-AC c.829_830delinsGT p.C277V Missense 8/11 - 1
17-7577108-CA-TG c.829_830inv p.C277H Missense 8/11 - 1
17-7577108-AC-A c.830del p.C277Ffs*68 Frameshift 8/11 - 1
17-7577109-A-C c.829T>G p.C277G Missense 8/11 - 12
17-7577109-A-G c.829T>C p.C277R Missense 8/11 - 5
17-7577109-A-T c.829T>A p.C277S Missense 8/11 - 23
17-7577108-C-G c.830G>C p.C277S Missense 8/11 - 23
17-7577109-CA-C c.829del p.C277Vfs*68 Frameshift 8/11 - 3
17-7577106-GACAGGCACAAAC-G c.820_831del p.V274_C277del InFrameDeletion 8/11 - 1
17-7577107-ACAGG-A c.827_830del p.A276Vfs*68 Frameshift 8/11 - 1
17-7577110-G-T c.828C>A p.A276= Synonymous 8/11 - 1
17-7577110-G-C c.828C>G p.A276= Synonymous 8/11 - 1
17-7577110-G-A c.828C>T p.A276= Synonymous 8/11 - 1
17-7577110-GGC-TTG c.826_828delinsCAA p.A276Q Missense 8/11 - 1
17-7577106-GACAGGC-G c.826_831del p.A276_C277del InFrameDeletion 8/11 - 1
17-7577111-GC-AA c.826_827delinsTT p.A276F Missense 8/11 - 3
17-7577111-G-T c.827C>A p.A276D Missense 8/11 - 17
17-7577111-G-A c.827C>T p.A276V Missense 8/11 - 6
17-7577111-G-C c.827C>G p.A276G Missense 8/11 - 16
17-7577109-AG-A c.828del p.C277Vfs*68 Frameshift 8/11 - 3
17-7577111-GC-CG c.826_827delinsCG p.A276R Missense 8/11 - 2
17-7577111-GC-TT c.826_827delinsAA p.A276N Missense 8/11 - 1
17-7577111-GC-AG c.826_827delinsCT p.A276L Missense 8/11 - 1
17-7577111-GC-AT c.826_827delinsAT p.A276I Missense 8/11 - 1
17-7577109-A-AG c.828dup p.C277Lfs*29 Frameshift 8/11 - 1
17-7577112-C-G c.826G>C p.A276P Missense 8/11 - 16
17-7577112-C-A c.826G>T p.A276S Missense 8/11 - 4
17-7577112-C-T c.826G>A p.A276T Missense 8/11 - 6
17-7577112-GC-G c.826del p.A276Pfs*69 Frameshift 8/11 - 1
17-7577113-A-T c.825T>A p.C275* Nonsense 8/11 - 4
17-7577113-A-C c.825T>G p.C275W Missense 8/11 - 13
17-7577113-CACAAACACG-C c.817_825del p.R273_C275del InFrameDeletion 8/11 - 2
17-7577113-A-G c.825T>C p.C275= Synonymous 8/11 - 1
17-7577114-C-A c.824G>T p.C275F Missense 8/11 - 54
17-7577114-C-T c.824G>A p.C275Y Missense 8/11 - 94
17-7577114-CA-GC c.823_824delinsGC p.C275A Missense 8/11 - 7
17-7577114-C-G c.824G>C p.C275S Missense 8/11 - 17
17-7577111-GCA-G c.825_826del p.A276Lfs*29 Frameshift 8/11 - 2
17-7577115-A-C c.823T>G p.C275G Missense 8/11 - 16
17-7577115-A-G c.823T>C p.C275R Missense 8/11 - 17
17-7577115-A-T c.823T>A p.C275S Missense 8/11 - 11
17-7577116-A-T c.822T>A p.V274= Synonymous 8/11 - 3
17-7577116-A-G c.822T>C p.V274= Synonymous 8/11 - 3
17-7577116-A-C c.822T>G p.V274= Synonymous 8/11 - 3
17-7577117-A-T c.821T>A p.V274D Missense 8/11 - 12
17-7577117-A-G c.821T>C p.V274A Missense 8/11 - 22
17-7577117-AC-TT c.820_821delinsAA p.V274N Missense 8/11 - 1
17-7577117-A-C c.821T>G p.V274G Missense 8/11 - 18
17-7577117-AC-CG c.820_821delinsCG p.V274R Missense 8/11 - 1
17-7577117-AC-GG c.820_821delinsCC p.V274P Missense 8/11 - 1
17-7577114-C-CA c.823dup p.C275Lfs*31 Frameshift 8/11 - 4
17-7577117-AC-CA c.820_821delinsTG p.V274C Missense 8/11 - 1
17-7577118-C-G c.820G>C p.V274L Missense 8/11 - 22
17-7577118-C-A c.820G>T p.V274F Missense 8/11 - 83
17-7577118-C-T c.820G>A p.V274I Missense 8/11 - 2
17-7577119-ACG-TCA c.817_819delinsTGA p.R273* Nonsense 8/11 - 10
17-7577119-A-C c.819T>G p.R273= Synonymous 8/11 - 3
17-7577119-A-G c.819T>C p.R273= Synonymous 8/11 - 3
17-7577119-A-T c.819T>A p.R273= Synonymous 8/11 - 3
17-7577119-ACG-CTT c.817_819delinsAAG p.R273K Missense 8/11 - 7
17-7577119-ACG-CCA c.817_819delinsTGG p.R273W Missense 8/11 - 3
17-7577119-AC-TT c.818_819delinsAA p.R273Q Missense 8/11 - 1
17-7577118-C-CA c.819dup p.V274Cfs*32 Frameshift 8/11 - 5
17-7577117-A-ACAGGACCTG c.820_821insCAGGTCCTG p.R273_V274insAGP InFrameInsertion 8/11 - 1
17-7577116-AAC-A c.820_821del p.V274Lfs*31 Frameshift 8/11 - 1
17-7577119-AC-CCTAA c.818_819delinsTTAGG p.V272_R273insL MultiAAMissense 8/11 - 1
17-7577120-C-T c.818G>A p.R273H Missense 8/11 - 1930
17-7577120-C-A c.818G>T p.R273L Missense 8/11 - 204
17-7577120-C-G c.818G>C p.R273P Missense 8/11 - 58
17-7577117-ACACGCACCT-A c.812_820del p.E271_R273del InFrameDeletion 8/11 - 3
17-7577120-CG-TA c.817_818delinsTA p.R273Y Missense 8/11 - 5
17-7577120-CG-GC c.817_818delinsGC p.R273A Missense 8/11 - 3
17-7577120-CG-TT c.817_818delinsAA p.R273N Missense 8/11 - 1
17-7577118-CACGCACCTCA-C c.810_819del p.F270Lfs*72 Frameshift 8/11 - 2
17-7577120-ACGCACCTCAAAGCT-A c.805_818del p.S269Cfs*32 Frameshift 8/11 - 1
17-7577121-G-A c.817C>T p.R273C Missense 8/11 - 730
17-7577121-G-C c.817C>G p.R273G Missense 8/11 - 39
17-7577121-G-T c.817C>A p.R273S Missense 8/11 - 55
17-7577122-C-T c.816G>A p.V272= Synonymous 8/11 - 3
17-7577122-CAC-ACA c.814_816delinsTGT p.V272C Missense 8/11 - 1
17-7577122-C-G c.816G>C p.V272= Synonymous 8/11 - 2
17-7577122-C-A c.816G>T p.V272= Synonymous 8/11 - 2
17-7577123-A-T c.815T>A p.V272E Missense 8/11 - 11
17-7577121-GCAC-G c.814_816del p.V272del InFrameDeletion 8/11 - 1
17-7577123-A-C c.815T>G p.V272G Missense 8/11 - 11
17-7577123-A-G c.815T>C p.V272A Missense 8/11 - 8
17-7577121-GCA-G c.815_816del p.V272Afs*33 Frameshift 8/11 - 2
17-7577123-CA-C c.815del p.V272Gfs*73 Frameshift 8/11 - 1
17-7577123-AC-TT c.814_815delinsAA p.V272K Missense 8/11 - 1
17-7577124-C-T c.814G>A p.V272M Missense 8/11 - 106
17-7577124-C-G c.814G>C p.V272L Missense 8/11 - 54
17-7577124-C-A c.814G>T p.V272L Missense 8/11 - 63
17-7577121-GCACCTCAAAGCTGTTCCGTCCCAGTAGATTAC-G c.785_816del p.G262Afs*33 Frameshift 8/11 7/10 1
17-7577125-C-T c.813G>A p.E271= Synonymous 8/11 - 1
17-7577125-CTC-GTT c.811_813delinsAAC p.E271N Missense 8/11 - 1
17-7577123-ACCTCAAAGCTGTTCCGTCCCAGTAGATTAC-A c.785_814del p.G262_E271del InFrameDeletion 8/11 - 1
17-7577125-CCTCAAAGCT-C c.805_813del p.S269_E271del InFrameDeletion 8/11 - 1
17-7577126-T-A c.812A>T p.E271V Missense 8/11 - 11
17-7577126-T-G c.812A>C p.E271A Missense 8/11 - 1
17-7577126-CT-C c.812del p.E271Gfs*74 Frameshift 8/11 - 1
17-7577126-T-C c.812A>G p.E271G Missense 8/11 - 2
17-7577126-CTCAAAGCT-C c.805_812del p.S269Gfs*34 Frameshift 8/11 - 1
17-7577127-C-T c.811G>A p.E271K Missense 8/11 - 46
17-7577127-C-A c.811G>T p.E271* Nonsense 8/11 - 18
17-7577127-C-G c.811G>C p.E271Q Missense 8/11 - 11
17-7577128-AA-CC c.809_810delinsGG p.F270W Missense 8/11 - 3
17-7577126-TCAAAGCTGTTCCGTC-T c.797_811del p.G266_F270del InFrameDeletion 8/11 - 1
17-7577128-CAAAGCT-C c.805_810del p.S269_F270del InFrameDeletion 8/11 - 1
17-7577129-A-C c.809T>G p.F270C Missense 8/11 - 22
17-7577129-A-G c.809T>C p.F270S Missense 8/11 - 28
17-7577129-A-T c.809T>A p.F270Y Missense 8/11 - 2
17-7577129-AA-GC c.808_809delinsGC p.F270A Missense 8/11 - 4
17-7577129-AAAGCTGTT-A c.802_809del p.N268* Frameshift 8/11 - 1
17-7577130-A-T c.808T>A p.F270I Missense 8/11 - 15
17-7577130-A-G c.808T>C p.F270L Missense 8/11 - 15
17-7577128-A-T c.810T>A p.F270L Missense 8/11 - 27
17-7577128-A-C c.810T>G p.F270L Missense 8/11 - 13
17-7577127-C-CA c.810dup p.E271* Nonsense 8/11 - 2
17-7577130-A-C c.808T>G p.F270V Missense 8/11 - 9
17-7577130-AAGC-A c.806_808del p.S269_F270delinsI MultiAAMissense 8/11 - 1
17-7577128-AAAGCTGTTCCGTCCC-A c.795_809del p.G266_F270del InFrameDeletion 8/11 - 1
17-7577128-AAAGCTGTTCCGTCCCAGTAGATTACC-A c.784_809del p.G262* SpliceAcceptorDeletion 8/11 - 1
17-7577131-GCT-CTC c.805_807delinsGAG p.S269E Missense 8/11 - 2
17-7577131-G-C c.807C>G p.S269R Missense 8/11 - 2
17-7577131-G-T c.807C>A p.S269R Missense 8/11 - 2
17-7577133-T-G c.805A>C p.S269R Missense 8/11 - 2
17-7577132-C-A c.806G>T p.S269I Missense 8/11 - 3
17-7577132-C-T c.806G>A p.S269N Missense 8/11 - 7
17-7577132-CT-GC c.805_806delinsGC p.S269A Missense 8/11 - 3
17-7577132-CT-TC c.805_806delinsGA p.S269D Missense 8/11 - 2
17-7577132-GCTGTTCC-G c.800_806del p.R267Pfs*76 Frameshift 8/11 - 2
17-7577133-T-C c.805A>G p.S269G Missense 8/11 - 1
17-7577134-GT-CC c.803_804delinsGG p.N268R Missense 8/11 - 4
17-7577134-TGTTCCGTCCCAGTAG-T c.790_804del p.L264_N268del InFrameDeletion 8/11 - 1
17-7577134-G-A c.804C>T p.N268= Synonymous 8/11 - 1
17-7577134-GTT-TTA c.802_804delinsTAA p.N268* Nonsense 8/11 - 1
17-7577132-CTGT-C c.803_805del p.N268del InFrameDeletion 8/11 - 1
17-7577134-TGTTCCGTCC-T c.796_804del p.G266_N268del InFrameDeletion 8/11 - 1
17-7577135-T-A c.803A>T p.N268I Missense 8/11 - 3
17-7577135-T-C c.803A>G p.N268S Missense 8/11 - 3
17-7577136-T-C c.802A>G p.N268D Missense 8/11 - 30
17-7577133-TGTTCC-T c.800_804del p.R267Qfs*3 Frameshift 8/11 - 1
17-7577134-GT-G c.803del p.N268Tfs*77 Frameshift 8/11 - 1
17-7577136-TTC-T c.801_802del p.N268Qfs*3 Frameshift 8/11 - 1
17-7577136-T-TA c.801_802insT p.N268* Nonsense 8/11 - 2
17-7577137-TCCG-T c.799_801del p.R267del InFrameDeletion 8/11 - 1
17-7577137-CC-AT c.800_801delinsAT p.R267H Missense 8/11 - 1
17-7577134-GTTCCGTCCCAGTAGA-G c.789_803del p.L264_N268del InFrameDeletion 8/11 - 1
17-7577137-TCCGTCCCAG-T c.793_801del p.L265_R267del InFrameDeletion 8/11 - 1
17-7577136-T-TC c.801dup p.N268Efs*4 Frameshift 8/11 - 2
17-7577138-C-T c.800G>A p.R267Q Missense 8/11 - 27
17-7577138-CG-TA c.799_800delinsTA p.R267* Nonsense 8/11 - 7
17-7577138-C-G c.800G>C p.R267P Missense 8/11 - 33
17-7577138-C-A c.800G>T p.R267L Missense 8/11 - 3
17-7577136-TCCGTCC-T c.796_801del p.G266_R267del InFrameDeletion 8/11 - 1
17-7577139-G-A c.799C>T p.R267W Missense 8/11 - 68
17-7577139-G-C c.799C>G p.R267G Missense 8/11 - 6
17-7577139-CGTCCCAGTAGATTA-C c.786_799del p.N263Efs*4 Frameshift 8/11 - 1
17-7577139-G-T c.799C>A p.R267= Synonymous 8/11 - 2
17-7577139-CG-C c.799del p.R267Gfs*78 Frameshift 8/11 - 1
17-7577139-G-GT c.798dup p.R267Tfs*5 Frameshift 8/11 - 1
17-7577140-GTCCCA-G c.794_798del p.L265Pfs*5 Frameshift 8/11 - 1
17-7577141-C-T c.797G>A p.G266E Missense 8/11 - 108
17-7577141-C-A c.797G>T p.G266V Missense 8/11 - 53
17-7577141-CC-TG c.796_797delinsCA p.G266Q Missense 8/11 - 4
17-7577141-C-G c.797G>C p.G266A Missense 8/11 - 1
17-7577141-CC-TT c.796_797delinsAA p.G266K Missense 8/11 - 2
17-7577142-C-A c.796G>T p.G266* Nonsense 8/11 - 22
17-7577142-C-T c.796G>A p.G266R Missense 8/11 - 57
17-7577142-C-G c.796G>C p.G266R Missense 8/11 - 31
17-7577143-CAG-GTT c.793_795delinsAAC p.L265N Missense 8/11 - 1
17-7577140-TC-T c.797del p.G266Dfs*79 Frameshift 8/11 - 5
17-7577140-T-TC c.797dup p.R267Tfs*5 Frameshift 8/11 - 1
17-7577143-CCAG-C c.793_795del p.L265del InFrameDeletion 8/11 - 1
17-7577144-A-G c.794T>C p.L265P Missense 8/11 - 50
17-7577144-A-C c.794T>G p.L265R Missense 8/11 - 10
17-7577144-A-T c.794T>A p.L265Q Missense 8/11 - 2
17-7577144-AG-GC c.793_794delinsGC p.L265A Missense 8/11 - 1
17-7577144-A-AC c.793_794insG p.L265Rfs*7 Frameshift 8/11 - 1
17-7577145-G-A c.793C>T p.L265= Synonymous 8/11 - 1
17-7577145-G-C c.793C>G p.L265V Missense 8/11 - 1
17-7577143-CAGT-C c.792_794del p.L265del InFrameDeletion 8/11 - 9
17-7577146-GTAGATTACCA-G c.783_792del p.G262Wfs*80 SpliceAcceptorDeletion 8/11 - 1
17-7577146-TAG-GTC c.790_792delinsGAC p.L264D Missense 8/11 - 1
17-7577146-GT-G c.792del p.L265Wfs*80 Frameshift 8/11 - 1
17-7577147-TAGATTACCA-T c.783_791del p.S261_L264delinsR SpliceAcceptorDeletion 8/11 - 2
17-7577147-A-G c.791T>C p.L264P Missense 8/11 - 1
17-7577147-A-C c.791T>G p.L264R Missense 8/11 - 2
17-7577147-AG-GC c.790_791delinsGC p.L264A Missense 8/11 - 1
17-7577148-AG-A c.790del p.L264Yfs*81 Frameshift 8/11 - 1
17-7577146-TAG-T c.790_791del p.L264Tfs*7 Frameshift 8/11 - 2
17-7577148-G-C c.790C>G p.L264V Missense 8/11 - 1
17-7577149-A-G c.789T>C p.N263= Synonymous 8/11 - 1
17-7577150-T-C c.788A>G p.N263S Missense 8/11 - 1
17-7577151-T-C c.787A>G p.N263D Missense 8/11 - 7
17-7577151-T-G c.787A>C p.N263H Missense 8/11 - 2
17-7577151-TTACCA-T c.783_787del p.S261Rfs*9 SpliceAcceptorDeletion 8/11 - 1
17-7577151-T-TA c.786dup p.N263* Nonsense 8/11 - 1
17-7577152-TACCA-T c.783_786del p.S261Rfs*83 SpliceAcceptorDeletion 8/11 - 1
17-7577152-AC-CT c.785_786delinsAG p.G262E Missense 8/11 - 2
17-7577152-A-G c.786T>C p.G262= Synonymous 8/11 - 1
17-7577152-TA-T c.786del p.N263Ifs*82 Frameshift 8/11 - 1
17-7577153-C-A c.785G>T p.G262V Missense 8/11 - 27
17-7577153-C-T c.785G>A p.G262D Missense 8/11 - 8
17-7577153-C-G c.785G>C p.G262A Missense 8/11 - 3
17-7577153-CC-AG c.784_785delinsCT p.G262L Missense 8/11 - 1
17-7577151-TACC-T c.784_786del p.G262del InFrameDeletion 8/11 7/10 3
17-7577154-C-CT c.783_784insA p.G262Rfs*2 SpliceAcceptorInsertion 8/11 - 2
17-7577154-C-CG c.783_784insC p.G262Rfs*2 SpliceAcceptorInsertion 8/11 - 2
17-7577152-AC-A c.785del p.G262Vfs*83 Frameshift 8/11 - 5
17-7577154-C-T c.784G>A p.G262S Missense 8/11 - 4
17-7577154-C-A c.784G>T p.G262C Missense 8/11 - 1
17-7577154-C-CA c.783dup p.G262Wfs*2 SpliceAcceptorInsertion - - 2
17-7577407-A-C c.782+92T>G - IntronicSNV - 7/10 49
17-7577420-G-A c.782+79C>T - IntronicSNV - 7/10 1
17-7577427-G-A c.782+72C>T - IntronicSNV - 7/10 22
17-7577440-A-C c.782+59T>G - IntronicSNV - 7/10 1
17-7577456-G-A c.782+43C>T - IntronicSNV - 7/10 1
17-7577458-G-A c.782+41C>T - IntronicSNV - 7/10 1
17-7577460-A-G c.782+39T>C - IntronicSNV - 7/10 1
17-7577470-A-G c.782+29T>C - IntronicSNV - 7/10 1
17-7577472-T-C c.782+27A>G - IntronicSNV - 7/10 1
17-7577474-T-C c.782+25A>G - IntronicSNV - 7/10 1
17-7577481-T-C c.782+18A>G - IntronicSNV - 7/10 1
17-7577482-G-A c.782+17C>T - IntronicSNV - 7/10 1
17-7577480-GTGGCAAGTGGCTCCTGACC-G c.782_782+18del - SpliceDonorDeletion 7/11 7/10 1
17-7577484-CA-C c.782+14del - IntronicDeletion - 7/10 1
17-7577488-GTGGCTCCTGA-G c.782+2_782+11del - IntronicDeletion - 7/10 1
17-7577489-G-A c.782+10C>T - IntronicSNV - 7/10 1
17-7577492-CTCCTGACCT-C c.781_782+7del - SpliceDonorDeletion 7/11 7/10 1
17-7577495-T-C c.782+4A>G - IntronicSNV - 7/10 1
17-7577495-CTGACCTGGA-C c.778_782+4del - SpliceDonorDeletion 7/11 7/10 1
17-7577497-A-T c.782+2T>A - IntronicSNV - 7/10 1
17-7577497-A-C c.782+2T>G - IntronicSNV - 7/10 2
17-7577497-GACCTGGAGTCTTC-G c.772_782+2del - SpliceDonorDeletion 7/11 7/10 1
17-7577498-C-T c.782+1G>A - IntronicSNV - 7/10 13
17-7577498-C-A c.782+1G>T - IntronicSNV - 7/10 12
17-7577498-C-G c.782+1G>C - IntronicSNV - 7/10 2
17-7577499-C-T c.782G>A p.S261N Missense 7/11 - 5
17-7577499-CCTGGAGTCT-C c.774_782del p.E258_S261delinsD SpliceDonorDeletion 7/11 - 1
17-7577499-CT-GC c.781_782delinsGC p.S261A Missense 7/11 - 3
17-7577499-CT-TC c.781_782delinsGA p.S261D Missense 7/11 - 1
17-7577499-C-G c.782G>C p.S261T Missense 7/11 - 2
17-7577499-CCTGGAG-C c.777_782del p.S260_S261del SpliceDonorDeletion 7/11 - 1
17-7577500-CT-C c.781del p.S261Vfs*84 Frameshift 7/11 - 3
17-7577499-C-CTAGG c.781_782insCCTA p.S261Tfs*2 SpliceDonorInsertion 7/11 - 1
17-7577500-T-TAC c.780_781insGT p.S261Vfs*85 SpliceDonorInsertion 7/11 - 1
17-7577497-ACCTGGAGTCTT-A c.773_782+1del - SpliceDonorDeletion 7/11 - 1
17-7577501-GGA-CTC c.778_780delinsGAG p.S260E Missense 7/11 - 1
17-7577501-GG-TT c.779_780delinsAA p.S260* Nonsense 7/11 - 1
17-7577501-G-A c.780C>T p.S260= Synonymous 7/11 - 2
17-7577501-G-C c.780C>G p.S260= Synonymous 7/11 - 1
17-7577501-G-T c.780C>A p.S260= Synonymous 7/11 - 1
17-7577501-TGGAGTCTTC-T c.772_780del p.E258_S260del InFrameDeletion 7/11 - 1
17-7577500-TGGA-T c.778_780del p.S261del InFrameDeletion 7/11 - 2
17-7577502-G-A c.779C>T p.S260F Missense 7/11 - 4
17-7577500-TG-T c.780del p.S261Vfs*84 Frameshift 7/11 - 4
17-7577502-GA-TC c.778_779inv p.S260D Missense 7/11 - 1
17-7577502-G-T c.779C>A p.S260Y Missense 7/11 - 2
17-7577499-CTGGAGTCTTCCAGTG-C c.767_781del p.T256_S260del SpliceDonorDeletion 7/11 - 1
17-7577502-GA-TT c.778_779delinsAA p.S260N Missense 7/11 - 2
17-7577501-GGA-G c.778_779del p.S260Qfs*3 Frameshift 7/11 - 3
17-7577503-A-G c.778T>C p.S260P Missense 7/11 - 3
17-7577503-A-T c.778T>A p.S260T Missense 7/11 - 3
17-7577503-A-C c.778T>G p.S260A Missense 7/11 - 4
17-7577503-GA-G c.778del p.S260Pfs*85 Frameshift 7/11 - 1
17-7577503-GAGTCTTC-G c.772_778del p.E258Pfs*85 Frameshift 7/11 - 1
17-7577501-GGAGTCTTCCA-G c.770_779del p.L257Pfs*85 Frameshift 7/11 - 1
17-7577504-G-A c.777C>T p.D259= Synonymous 7/11 - 1
17-7577504-G-C c.777C>G p.D259E Missense 7/11 - 1
17-7577504-G-T c.777C>A p.D259E Missense 7/11 - 1
17-7577505-T-G c.776A>C p.D259A Missense 7/11 - 3
17-7577505-T-A c.776A>T p.D259V Missense 7/11 - 18
17-7577505-T-C c.776A>G p.D259G Missense 7/11 - 4
17-7577506-C-A c.775G>T p.D259Y Missense 7/11 - 41
17-7577506-C-T c.775G>A p.D259N Missense 7/11 - 10
17-7577506-C-CA c.774_775insT p.D259* Nonsense 7/11 - 1
17-7577502-GAGTCTTCC-G c.771_778del p.E258Qfs*3 Frameshift 7/11 - 1
17-7577506-C-G c.775G>C p.D259H Missense 7/11 - 7
17-7577507-T-G c.774A>C p.E258D Missense 7/11 - 17
17-7577507-T-A c.774A>T p.E258D Missense 7/11 - 12
17-7577507-TTC-GTT c.772_774delinsAAC p.E258N Missense 7/11 - 1
17-7577507-T-C c.774A>G p.E258= Synonymous 7/11 - 1
17-7577508-T-A c.773A>T p.E258V Missense 7/11 - 13
17-7577508-T-C c.773A>G p.E258G Missense 7/11 - 20
17-7577508-T-G c.773A>C p.E258A Missense 7/11 - 8
17-7577506-CTTCCAG-C c.769_774del p.L257_E258del InFrameDeletion 7/11 - 1
17-7577506-C-CT c.774dup p.D259Rfs*5 Frameshift 7/11 - 2
17-7577506-CT-C c.774del p.D259Tfs*86 Frameshift 7/11 - 1
17-7577509-C-T c.772G>A p.E258K Missense 7/11 - 78
17-7577509-C-A c.772G>T p.E258* Nonsense 7/11 - 27
17-7577509-C-G c.772G>C p.E258Q Missense 7/11 - 10
17-7577509-C-CA c.771_772insT p.E258* Nonsense 7/11 - 1
17-7577507-TTCCAGTG-T c.767_773del p.T256Kfs*87 Frameshift 7/11 - 2
17-7577510-CCA-C c.770_771del p.L257Rfs*6 Frameshift 7/11 - 2
17-7577508-TC-T c.772del p.E258Kfs*87 Frameshift 7/11 - 1
17-7577510-C-G c.771G>C p.L257= Synonymous 7/11 - 2
17-7577511-A-G c.770T>C p.L257P Missense 7/11 - 26
17-7577511-A-C c.770T>G p.L257R Missense 7/11 - 21
17-7577511-CAG-C c.769_770del p.L257Gfs*6 Frameshift 7/11 - 2
17-7577511-A-T c.770T>A p.L257Q Missense 7/11 - 14
17-7577511-CA-C c.770del p.L257Rfs*88 Frameshift 7/11 - 1
17-7577511-AG-GC c.769_770delinsGC p.L257A Missense 7/11 - 1
17-7577511-AG-CC c.769_770delinsGG p.L257G Missense 7/11 - 1
17-7577512-G-C c.769C>G p.L257V Missense 7/11 - 6
17-7577512-AGTGTGATGATGGTG-A c.756_769del p.T253Gfs*6 Frameshift 7/11 - 1
17-7577513-GTGTGAT-G c.763_768del p.I255_T256del InFrameDeletion 7/11 - 1
17-7577514-G-A c.767C>T p.T256I Missense 7/11 - 7
17-7577514-TGTGATGATGGTGAGGATGGGCCTCCGGTTCATG-T c.735_767del p.M246_T256del InFrameDeletion 7/11 - 1
17-7577514-G-C c.767C>G p.T256R Missense 7/11 - 2
17-7577514-G-T c.767C>A p.T256K Missense 7/11 - 2
17-7577515-T-G c.766A>C p.T256P Missense 7/11 - 7
17-7577515-T-C c.766A>G p.T256A Missense 7/11 - 8
17-7577514-G-GTT c.766_767insAA p.T256Kfs*90 Frameshift 7/11 - 2
17-7577515-T-A c.766A>T p.T256S Missense 7/11 - 1
17-7577511-AGT-A c.768_769del p.L257Gfs*6 Frameshift 7/11 - 1
17-7577516-G-C c.765C>G p.I255M Missense 7/11 - 1
17-7577516-G-T c.765C>A p.I255= Synonymous 7/11 - 1
17-7577516-G-A c.765C>T p.I255= Synonymous 7/11 - 1
17-7577517-A-T c.764T>A p.I255N Missense 7/11 - 24
17-7577517-A-G c.764T>C p.I255T Missense 7/11 - 16
17-7577517-A-C c.764T>G p.I255S Missense 7/11 - 19
17-7577514-GTGATGA-G c.761_766del p.I254_I255del InFrameDeletion 7/11 - 1
17-7577516-G-GA c.764dup p.T256Hfs*8 Frameshift 7/11 - 3
17-7577517-GATGATGGTGAGGAT-G c.751_764del p.I251Hfs*8 Frameshift 7/11 - 1
17-7577517-GATGAT-G c.760_764del p.I254Hfs*8 Frameshift 7/11 - 1
17-7577518-T-A c.763A>T p.I255F Missense 7/11 - 36
17-7577518-T-C c.763A>G p.I255V Missense 7/11 - 3
17-7577513-TGTGATGATG-T c.759_767del p.I254_T256del InFrameDeletion 7/11 - 3
17-7577517-A-AT c.763dup p.I255Nfs*9 Frameshift 7/11 - 1
17-7577519-GA-CC c.761_762delinsGG p.I254R Missense 7/11 - 8
17-7577519-G-C c.762C>G p.I254M Missense 7/11 - 2
17-7577519-TG-T c.762del p.I255Sfs*90 Frameshift 7/11 - 1
17-7577514-GTGA-G c.764_766del p.I255del InFrameDeletion 7/11 - 21
17-7577520-A-G c.761T>C p.I254T Missense 7/11 - 14
17-7577520-A-C c.761T>G p.I254S Missense 7/11 - 20
17-7577520-A-T c.761T>A p.I254N Missense 7/11 - 11
17-7577520-AT-TC c.760_761delinsGA p.I254D Missense 7/11 - 6
17-7577521-T-C c.760A>G p.I254V Missense 7/11 - 12
17-7577521-T-A c.760A>T p.I254F Missense 7/11 - 3
17-7577521-T-G c.760A>C p.I254L Missense 7/11 - 2
17-7577522-G-T c.759C>A p.T253= Synonymous 7/11 - 2
17-7577522-G-C c.759C>G p.T253= Synonymous 7/11 - 1
17-7577522-G-A c.759C>T p.T253= Synonymous 7/11 - 1
17-7577522-G-GA c.758_759insT p.I254Hfs*10 Frameshift 7/11 - 1
17-7577522-TGGTGAGGATGGG-T c.748_759del p.P250_T253del InFrameDeletion 7/11 - 1
17-7577523-GT-AC c.757_758inv p.T253V Missense 7/11 - 6
17-7577523-G-A c.758C>T p.T253I Missense 7/11 - 12
17-7577521-TG-T c.759del p.I254Sfs*91 Frameshift 7/11 - 2
17-7577523-G-T c.758C>A p.T253N Missense 7/11 - 4
17-7577523-G-C c.758C>G p.T253S Missense 7/11 - 2
17-7577524-T-A c.757A>T p.T253S Missense 7/11 - 3
17-7577523-GT-AA c.757_758delinsTT p.T253F Missense 7/11 - 1
17-7577521-TGGTGAG-T c.754_759del p.L252_T253del InFrameDeletion 7/11 - 1
17-7577523-GT-AG c.757_758delinsCT p.T253L Missense 7/11 - 1
17-7577518-TGATGGTGAG-T c.754_762del p.L252_I254del InFrameDeletion 7/11 - 5
17-7577524-T-C c.757A>G p.T253A Missense 7/11 - 14
17-7577523-G-GT c.757dup p.T253Nfs*11 Frameshift 7/11 - 5
17-7577524-T-G c.757A>C p.T253P Missense 7/11 - 11
17-7577525-TGAGGATGGG-T c.748_756del p.P250_L252del InFrameDeletion 7/11 - 2
17-7577525-TG-T c.756del p.T253Pfs*92 Frameshift 7/11 - 3
17-7577521-TGGTGAGGATGGGCCTCC-T c.743_759del p.R248Hfs*10 Frameshift 7/11 - 1
17-7577525-GAG-CTT c.754_756delinsAAG p.L252K Missense 7/11 - 1
17-7577526-A-G c.755T>C p.L252P Missense 7/11 - 21
17-7577526-GAGGATGGGCC-G c.746_755del p.R249Tfs*93 Frameshift 7/11 - 1
17-7577524-TGAGGATGG-T c.749_756del p.P250Hfs*11 Frameshift 7/11 - 1
17-7577523-GTGAGGATGGGCCTCCGGTTCA-G c.737_757del p.M246_L252del InFrameDeletion 7/11 - 1
17-7577527-G-A c.754C>T p.L252F Missense 7/11 - 4
17-7577524-TGAG-T c.754_756del p.L252del InFrameDeletion 7/11 - 9
17-7577527-GGATG-T c.750_754delinsA p.I251Sfs*93 Frameshift 7/11 - 1
17-7577527-G-C c.754C>G p.L252V Missense 7/11 - 1
17-7577526-AG-A c.754del p.L252Sfs*93 Frameshift 7/11 - 2
17-7577528-G-C c.753C>G p.I251M Missense 7/11 - 2
17-7577528-GGATGGGCCT-G c.745_753del p.R249_I251del InFrameDeletion 7/11 - 1
17-7577529-A-C c.752T>G p.I251S Missense 7/11 - 16
17-7577529-A-T c.752T>A p.I251N Missense 7/11 - 10
17-7577529-A-G c.752T>C p.I251T Missense 7/11 - 6
17-7577529-GA-G c.752del p.I251Tfs*94 Frameshift 7/11 - 2
17-7577527-GGAT-G c.751_753del p.I251del InFrameDeletion 7/11 - 1
17-7577527-GGATGGGCCTCCGGTTCATGCCGCCCAT-G c.727_753del p.M243_I251del InFrameDeletion 7/11 - 1
17-7577530-T-A c.751A>T p.I251F Missense 7/11 - 9
17-7577530-T-G c.751A>C p.I251L Missense 7/11 - 7
17-7577530-T-C c.751A>G p.I251V Missense 7/11 - 1
17-7577530-AT-A c.751del p.I251Sfs*94 Frameshift 7/11 - 1
17-7577531-G-A c.750C>T p.P250= Synonymous 7/11 - 1
17-7577529-ATGGGCCTCCGGT-A c.740_751del p.N247_P250del InFrameDeletion 7/11 - 2
17-7577531-TGGG-T c.748_750del p.P250del InFrameDeletion 7/11 - 1
17-7577529-ATGGGCC-A c.746_751del p.R249_P250del InFrameDeletion 7/11 - 1
17-7577532-G-A c.749C>T p.P250L Missense 7/11 - 41
17-7577528-GATGGGCCTCCGGTTC-G c.738_752del p.M246_P250del InFrameDeletion 7/11 - 3
17-7577530-TGGGCCTCCG-T c.742_750del p.R248_P250del InFrameDeletion 7/11 - 2
17-7577532-G-T c.749C>A p.P250H Missense 7/11 - 2
17-7577532-G-C c.749C>G p.P250R Missense 7/11 - 4
17-7577532-GG-AA c.748_749delinsTT p.P250F Missense 7/11 - 2
17-7577530-TG-T c.750del p.I251Sfs*94 Frameshift 7/11 - 2
17-7577533-G-A c.748C>T p.P250S Missense 7/11 - 4
17-7577533-G-C c.748C>G p.P250A Missense 7/11 - 1
17-7577531-GGGCCTCCGGTTCATGCC-G c.733_749del p.G245Hfs*13 Frameshift 7/11 - 1
17-7577533-G-T c.748C>A p.P250T Missense 7/11 - 3
17-7577533-GGCC-G c.746_748del p.R249_P250delinsT MultiAAMissense 7/11 - 1
17-7577533-GGCCTCCGGTTCATGC-G c.734_748del p.G245_P250delinsA MultiAAMissense 7/11 - 1
17-7577534-C-A c.747G>T p.R249S Missense 7/11 - 639
17-7577534-C-G c.747G>C p.R249S Missense 7/11 - 493
17-7577534-CCT-ACA c.745_747delinsTGT p.R249C Missense 7/11 - 4
17-7577534-CC-GA c.746_747delinsTC p.R249I Missense 7/11 - 3
17-7577534-CCT-GTC c.745_747delinsGAC p.R249D Missense 7/11 - 1
17-7577534-CCT-ATG c.745_747delinsCAT p.R249H Missense 7/11 - 3
17-7577535-C-A c.746G>T p.R249M Missense 7/11 - 51
17-7577535-C-G c.746G>C p.R249T Missense 7/11 - 20
17-7577533-GCCTCCGGTT-G c.739_747del p.N247_R249del InFrameDeletion 7/11 - 3
17-7577535-C-T c.746G>A p.R249K Missense 7/11 - 14
17-7577533-GC-G c.747del p.R249Sfs*96 Frameshift 7/11 - 1
17-7577535-CT-TA c.745_746delinsTA p.R249* Nonsense 7/11 - 1
17-7577535-CT-TG c.745_746delinsCA p.R249Q Missense 7/11 - 4
17-7577535-CT-GC c.745_746delinsGC p.R249A Missense 7/11 - 2
17-7577536-T-A c.745A>T p.R249W Missense 7/11 - 36
17-7577536-T-C c.745A>G p.R249G Missense 7/11 - 36
17-7577536-CT-C c.745del p.R249Gfs*96 Frameshift 7/11 - 1
17-7577536-T-TA c.744_745insT p.R249* Nonsense 7/11 - 1
17-7577533-GCCT-G c.745_747del p.R249del InFrameDeletion 7/11 - 2
17-7577536-CTCCGGTTCATGCCG-C c.732_745del p.G245Afs*14 Frameshift 7/11 - 2
17-7577537-CCG-ATA c.742_744delinsTAT p.R248Y Missense 7/11 - 3
17-7577537-CC-AT c.743_744delinsAT p.R248H Missense 7/11 - 19
17-7577537-CCG-ACA c.742_744delinsTGT p.R248C Missense 7/11 - 5
17-7577537-CCG-GTT c.742_744delinsAAC p.R248N Missense 7/11 - 2
17-7577537-CCG-GCT c.742_744delinsAGC p.R248S Missense 7/11 - 1
17-7577538-C-T c.743G>A p.R248Q Missense 7/11 - 1126
17-7577538-C-A c.743G>T p.R248L Missense 7/11 - 134
17-7577538-CG-GC c.742_743delinsGC p.R248A Missense 7/11 - 7
17-7577538-CG-TC c.742_743delinsGA p.R248E Missense 7/11 - 9
17-7577536-TC-T c.744del p.R249Gfs*96 Frameshift 7/11 - 4
17-7577538-CG-TA c.742_743delinsTA p.R248* Nonsense 7/11 - 2
17-7577535-CTCCGGT-C c.740_745del p.N247_R248del InFrameDeletion 7/11 - 2
17-7577538-C-G c.743G>C p.R248P Missense 7/11 - 46
17-7577538-CG-TT c.742_743delinsAA p.R248K Missense 7/11 - 1
17-7577538-CG-AC c.742_743delinsGT p.R248V Missense 7/11 - 1
17-7577538-CG-GT c.742_743delinsAC p.R248T Missense 7/11 - 2
17-7577539-G-A c.742C>T p.R248W Missense 7/11 - 1034
17-7577539-G-C c.742C>G p.R248G Missense 7/11 - 72
17-7577539-G-T c.742C>A p.R248= Synonymous 7/11 - 9
17-7577537-C-T c.744G>A p.R248= Synonymous 7/11 - 7
17-7577537-C-G c.744G>C p.R248= Synonymous 7/11 - 7
17-7577537-C-A c.744G>T p.R248= Synonymous 7/11 - 7
17-7577540-G-A c.741C>T p.N247= Synonymous 7/11 - 3
17-7577538-CG-C c.742del p.R248Gfs*97 Frameshift 7/11 - 1
17-7577540-GTT-TTA c.739_741delinsTAA p.N247* Nonsense 7/11 - 1
17-7577540-G-C c.741C>G p.N247K Missense 7/11 - 2
17-7577540-G-T c.741C>A p.N247K Missense 7/11 - 2
17-7577541-T-C c.740A>G p.N247S Missense 7/11 - 6
17-7577541-T-A c.740A>T p.N247I Missense 7/11 - 13
17-7577541-T-G c.740A>C p.N247T Missense 7/11 - 1
17-7577541-GTTCATGCCGCC-G c.730_740del p.G244Pfs*16 Frameshift 7/11 - 1
17-7577541-GTTCATGCCGCCC-G c.729_740del p.M243_N247delinsI MultiAAMissense 7/11 - 1
17-7577541-GTTCATGCC-G c.733_740del p.G245Pfs*16 Frameshift 7/11 - 2
17-7577542-T-C c.739A>G p.N247D Missense 7/11 - 4
17-7577542-T-A c.739A>T p.N247Y Missense 7/11 - 2
17-7577543-C-T c.738G>A p.M246I Missense 7/11 - 49
17-7577543-C-G c.738G>C p.M246I Missense 7/11 - 38
17-7577543-C-A c.738G>T p.M246I Missense 7/11 - 38
17-7577541-TTCA-T c.737_739del p.M246del InFrameDeletion 7/11 - 2
17-7577541-TTCATGCCGCCCA-T c.728_739del p.M243_M246del InFrameDeletion 7/11 - 1
17-7577544-A-T c.737T>A p.M246K Missense 7/11 - 12
17-7577544-A-C c.737T>G p.M246R Missense 7/11 - 20
17-7577544-A-G c.737T>C p.M246T Missense 7/11 - 11
17-7577544-AT-GC c.736_737delinsGC p.M246A Missense 7/11 - 1
17-7577542-TCATGCCGC-T c.731_738del p.G244Efs*17 Frameshift 7/11 - 1
17-7577545-T-C c.736A>G p.M246V Missense 7/11 - 58
17-7577545-T-A c.736A>T p.M246L Missense 7/11 - 16
17-7577545-T-G c.736A>C p.M246L Missense 7/11 - 13
17-7577545-AT-A c.736del p.M246* Frameshift 7/11 - 1
17-7577543-CATGCCGCCCATGCAGGAACTGTT-C c.715_737del p.N239Efs*17 Frameshift 7/11 - 3
17-7577545-ATGCCGCCCATGCAG-A c.723_736del p.C242Efs*17 Frameshift 7/11 - 1
17-7577545-ATGCCGC-A c.731_736del p.G244_M246delinsV MultiAAMissense 7/11 - 2
17-7577545-ATGCCGCCCATGC-A c.725_736del p.C242_M246delinsL MultiAAMissense 7/11 - 1
17-7577545-ATGCCGCCCATGCAGG-A c.722_736del p.S241_M246delinsL MultiAAMissense 7/11 - 1
17-7577545-ATGCCG-A c.732_736del p.G245Efs*17 Frameshift 7/11 - 2
17-7577545-ATGCCGCCCAT-A c.727_736del p.M243* Frameshift 7/11 - 1
17-7577546-G-A c.735C>T p.G245= Synonymous 7/11 - 2
17-7577546-G-C c.735C>G p.G245= Synonymous 7/11 - 2
17-7577546-G-T c.735C>A p.G245= Synonymous 7/11 - 2
17-7577546-TGCCGCCCATGCAGGA-T c.721_735del p.S241_G245del InFrameDeletion 7/11 - 1
17-7577544-ATGCCGCCCATGCAGGAACTGTTACACATGTAG-A c.705_736del p.Y236Efs*17 Frameshift 7/11 - 1
17-7577547-C-T c.734G>A p.G245D Missense 7/11 - 179
17-7577547-C-A c.734G>T p.G245V Missense 7/11 - 87
17-7577547-C-G c.734G>C p.G245A Missense 7/11 - 30
17-7577547-CC-AA c.733_734delinsTT p.G245F Missense 7/11 - 2
17-7577547-CC-TT c.733_734delinsAA p.G245N Missense 7/11 - 6
17-7577545-TGCCGCCCATGCA-T c.724_735del p.C242_G245del InFrameDeletion 7/11 - 1
17-7577547-GCCGCCCAT-G c.727_734del p.M243Hfs*18 Frameshift 7/11 - 1
17-7577548-C-T c.733G>A p.G245S Missense 7/11 - 566
17-7577548-C-A c.733G>T p.G245C Missense 7/11 - 140
17-7577548-C-G c.733G>C p.G245R Missense 7/11 - 34
17-7577546-GC-G c.734del p.G245Afs*2 Frameshift 7/11 - 1
17-7577548-C-CACCCAT c.732_733insATGGGT p.M243_G244dup InFrameInsertion 7/11 - 1
17-7577546-GCCGCCCATGCAGGAA-G c.720_734del p.S241_G245del InFrameDeletion 7/11 - 1
17-7577548-CCGCCCATGCAG-C c.723_733del p.C242Hfs*18 Frameshift 7/11 - 1
17-7577545-TGCC-T c.733_735del p.G245del InFrameDeletion 7/11 - 4
17-7577549-G-A c.732C>T p.G244= Synonymous 7/11 - 2
17-7577549-G-C c.732C>G p.G244= Synonymous 7/11 - 2
17-7577549-G-T c.732C>A p.G244= Synonymous 7/11 - 2
17-7577550-C-T c.731G>A p.G244D Missense 7/11 - 73
17-7577550-C-A c.731G>T p.G244V Missense 7/11 - 18
17-7577550-C-G c.731G>C p.G244A Missense 7/11 - 14
17-7577550-GCCC-G c.729_731del p.M243_G244delinsI MultiAAMissense 7/11 - 1
17-7577550-CC-AT c.730_731delinsAT p.G244I Missense 7/11 - 1
17-7577551-C-A c.730G>T p.G244C Missense 7/11 - 45
17-7577551-C-G c.730G>C p.G244R Missense 7/11 - 9
17-7577551-C-T c.730G>A p.G244S Missense 7/11 - 42
17-7577551-CCCATGCAGGAACTGTTACACATGTAGTTGT-C c.701_730del p.Y234_G244delinsC MultiAAMissense 7/11 - 1
17-7577548-CGCCCAT-C c.727_732del p.M243_G244del InFrameDeletion 7/11 - 1
17-7577549-GC-G c.731del p.G244Afs*3 Frameshift 7/11 - 2
17-7577552-C-G c.729G>C p.M243I Missense 7/11 - 3
17-7577552-C-T c.729G>A p.M243I Missense 7/11 - 4
17-7577552-C-A c.729G>T p.M243I Missense 7/11 - 3
17-7577552-CCAT-C c.727_729del p.M243del InFrameDeletion 7/11 - 1
17-7577553-A-G c.728T>C p.M243T Missense 7/11 - 4
17-7577553-A-C c.728T>G p.M243R Missense 7/11 - 1
17-7577554-T-C c.727A>G p.M243V Missense 7/11 - 4
17-7577554-T-G c.727A>C p.M243L Missense 7/11 - 3
17-7577554-T-A c.727A>T p.M243L Missense 7/11 - 3
17-7577554-T-TTA c.726_727insTA p.M243* Nonsense 7/11 - 1
17-7577554-ATGCAG-A c.723_727del p.C242Gfs*20 Frameshift 7/11 - 1
17-7577554-ATGCAGGAACTGTT-A c.715_727del p.N239Wfs*4 Frameshift 7/11 - 1
17-7577555-G-C c.726C>G p.C242W Missense 7/11 - 12
17-7577555-G-T c.726C>A p.C242* Nonsense 7/11 - 6
17-7577555-TG-T c.726del p.C242* Frameshift 7/11 - 1
17-7577553-ATGCAGGAACTGT-A c.716_727del p.N239_C242del InFrameDeletion 7/11 - 2
17-7577555-G-A c.726C>T p.C242= Synonymous 7/11 - 1
17-7577555-TGCAGGA-T c.721_726del p.S241_C242del InFrameDeletion 7/11 - 1
17-7577555-TGCAGGAACTGTTAC-T c.713_726del p.C238Yfs*21 Frameshift 7/11 - 1
17-7577556-C-A c.725G>T p.C242F Missense 7/11 - 73
17-7577556-C-T c.725G>A p.C242Y Missense 7/11 - 70
17-7577556-C-G c.725G>C p.C242S Missense 7/11 - 48
17-7577551-CCATGCAGGAACTGTTACA-C c.712_729del p.C238_M243del InFrameDeletion 7/11 - 1
17-7577556-CA-GT c.724_725delinsAC p.C242T Missense 7/11 - 5
17-7577556-CA-GC c.724_725delinsGC p.C242A Missense 7/11 - 1
17-7577557-A-G c.724T>C p.C242R Missense 7/11 - 30
17-7577557-A-T c.724T>A p.C242S Missense 7/11 - 32
17-7577557-A-C c.724T>G p.C242G Missense 7/11 - 11
17-7577557-CA-C c.724del p.C242Afs*5 Frameshift 7/11 - 2
17-7577555-GCAGGAA-G c.720_725del p.S241_C242del InFrameDeletion 7/11 - 1
17-7577557-CAGGAACTGT-C c.716_724del p.N239_C242delinsS MultiAAMissense 7/11 - 1
17-7577557-CAGGAACTG-C c.717_724del p.N239Kfs*22 Frameshift 7/11 - 1
17-7577558-G-T c.723C>A p.S241= Synonymous 7/11 - 2
17-7577558-GGA-CTC c.721_723delinsGAG p.S241E Missense 7/11 - 1
17-7577558-G-A c.723C>T p.S241= Synonymous 7/11 - 2
17-7577558-G-C c.723C>G p.S241= Synonymous 7/11 - 1
17-7577556-CAGG-C c.722_724del p.S241del InFrameDeletion 7/11 - 1
17-7577558-GG-TT c.722_723delinsAA p.S241* Nonsense 7/11 - 1
17-7577555-GCAGGAACTGTTA-G c.714_725del p.N239_C242del InFrameDeletion 7/11 - 1
17-7577555-GCAGGAACTGTTACA-G c.712_725del p.C238Hfs*21 Frameshift 7/11 - 1
17-7577556-CAGGAACTGTT-C c.715_724del p.N239Afs*5 Frameshift 7/11 - 1
17-7577559-G-T c.722C>A p.S241Y Missense 7/11 - 44
17-7577559-G-C c.722C>G p.S241C Missense 7/11 - 36
17-7577559-G-A c.722C>T p.S241F Missense 7/11 - 251
17-7577557-AG-A c.723del p.C242Afs*5 Frameshift 7/11 - 23
17-7577559-GA-TT c.721_722delinsAA p.S241N Missense 7/11 - 1
17-7577558-G-GGCATGCAT c.722_723insATGCATGC p.G244Pfs*6 Frameshift 7/11 - 1
17-7577559-GA-TG c.721_722delinsCA p.S241H Missense 7/11 - 1
17-7577559-G-GT c.721_722insA p.S241Yfs*23 Frameshift 7/11 - 1
17-7577557-AGGAACT-A c.718_723del p.S240_S241del InFrameDeletion 7/11 - 1
17-7577559-GGAACTGTT-G c.715_722del p.N239Lfs*22 Frameshift 7/11 - 1
17-7577560-A-G c.721T>C p.S241P Missense 7/11 - 15
17-7577560-A-C c.721T>G p.S241A Missense 7/11 - 10
17-7577560-A-T c.721T>A p.S241T Missense 7/11 - 9
17-7577560-GAACTGT-G c.716_721del p.N239_S241delinsT MultiAAMissense 7/11 - 1
17-7577561-A-G c.720T>C p.S240= Synonymous 7/11 - 2
17-7577561-A-C c.720T>G p.S240R Missense 7/11 - 22
17-7577561-A-T c.720T>A p.S240R Missense 7/11 - 19
17-7577563-T-G c.718A>C p.S240R Missense 7/11 - 22
17-7577559-GAACTGTTACACATGT-G c.707_721del p.Y236_S240del InFrameDeletion 7/11 - 1
17-7577559-GA-G c.721del p.S241Pfs*6 Frameshift 7/11 - 3
17-7577559-G-GA c.721dup p.S241Ffs*23 Frameshift 7/11 - 1
17-7577561-AC-GCTGT c.719_720delinsACAGC p.N239dup MultiAAMissense 7/11 - 1
17-7577561-ACT-CTC c.718_720delinsGAG p.S240E Missense 7/11 - 1
17-7577559-GAACTGTTAC-G c.713_721del p.C238_S240del InFrameDeletion 7/11 - 2
17-7577559-GAACTGTT-G c.715_721del p.N239Pfs*6 Frameshift 7/11 - 1
17-7577562-C-T c.719G>A p.S240N Missense 7/11 - 8
17-7577562-CT-GC c.718_719delinsGC p.S240A Missense 7/11 - 3
17-7577562-C-A c.719G>T p.S240I Missense 7/11 - 2
17-7577562-CT-AA c.718_719delinsTT p.S240F Missense 7/11 - 1
17-7577562-CT-TC c.718_719delinsGA p.S240D Missense 7/11 - 1
17-7577560-AACTGTTAC-A c.713_720del p.C238Ffs*23 Frameshift 7/11 - 1
17-7577563-T-C c.718A>G p.S240G Missense 7/11 - 12
17-7577563-T-A c.718A>T p.S240C Missense 7/11 - 4
17-7577560-AACTGTT-A c.715_720del p.N239_S240del InFrameDeletion 7/11 - 4
17-7577562-C-CT c.718dup p.S240Kfs*24 Frameshift 7/11 - 1
17-7577563-T-TA c.717_718insT p.S240* Nonsense 7/11 - 1
17-7577564-G-C c.717C>G p.N239K Missense 7/11 - 8
17-7577564-G-T c.717C>A p.N239K Missense 7/11 - 6
17-7577564-GTT-TTA c.715_717delinsTAA p.N239* Nonsense 7/11 - 3
17-7577562-CTGT-C c.716_718del p.N239del InFrameDeletion 7/11 - 1
17-7577564-G-A c.717C>T p.N239= Synonymous 7/11 - 1
17-7577565-T-G c.716A>C p.N239T Missense 7/11 - 8
17-7577565-T-C c.716A>G p.N239S Missense 7/11 - 53
17-7577565-T-A c.716A>T p.N239I Missense 7/11 - 2
17-7577565-GTTACAC-G c.711_716del p.M237_N239delinsI MultiAAMissense 7/11 - 1
17-7577566-T-C c.715A>G p.N239D Missense 7/11 - 50
17-7577566-T-A c.715A>T p.N239Y Missense 7/11 - 56
17-7577564-GT-G c.716del p.N239Tfs*8 Frameshift 7/11 - 2
17-7577562-CTGTTACACA-C c.710_718del p.M237_N239del InFrameDeletion 7/11 - 1
17-7577566-T-G c.715A>C p.N239H Missense 7/11 - 1
17-7577564-G-GT c.716dup p.N239Kfs*25 Frameshift 7/11 - 1
17-7577567-A-C c.714T>G p.C238W Missense 7/11 - 14
17-7577567-A-T c.714T>A p.C238* Nonsense 7/11 - 3
17-7577566-T-TA c.714dup p.N239* Nonsense 7/11 - 9
17-7577567-A-G c.714T>C p.C238= Synonymous 7/11 - 2
17-7577567-TA-T c.714del p.C238* Frameshift 7/11 - 1
17-7577567-TACA-T c.712_714del p.C238del InFrameDeletion 7/11 - 1
17-7577568-C-T c.713G>A p.C238Y Missense 7/11 - 101
17-7577568-C-A c.713G>T p.C238F Missense 7/11 - 67
17-7577568-ACACATGTAGTT-A c.703_713del p.N235* Frameshift 7/11 - 1
17-7577568-CA-GG c.712_713delinsCC p.C238P Missense 7/11 - 1
17-7577568-CA-GT c.712_713delinsAC p.C238T Missense 7/11 - 1
17-7577568-ACACAT-A c.709_713del p.M237* Frameshift 7/11 - 1
17-7577569-A-T c.712T>A p.C238S Missense 7/11 - 40
17-7577568-C-G c.713G>C p.C238S Missense 7/11 - 42
17-7577569-A-G c.712T>C p.C238R Missense 7/11 - 22
17-7577569-A-C c.712T>G p.C238G Missense 7/11 - 15
17-7577569-CA-C c.712del p.C238Vfs*9 Frameshift 7/11 - 1
17-7577570-C-A c.711G>T p.M237I Missense 7/11 - 124
17-7577570-C-G c.711G>C p.M237I Missense 7/11 - 51
17-7577570-C-T c.711G>A p.M237I Missense 7/11 - 144
17-7577568-CACATGT-C c.707_712del p.Y236_M237del InFrameDeletion 7/11 - 1
17-7577568-CACATGTAGTTGT-C c.701_712del p.Y234_M237del InFrameDeletion 7/11 - 1
17-7577571-A-T c.710T>A p.M237K Missense 7/11 - 20
17-7577571-A-C c.710T>G p.M237R Missense 7/11 - 4
17-7577571-A-G c.710T>C p.M237T Missense 7/11 - 5
17-7577571-AT-TA c.709_710delinsTA p.M237* Nonsense 7/11 - 1
17-7577572-T-C c.709A>G p.M237V Missense 7/11 - 18
17-7577572-AT-A c.709del p.M237Cfs*10 Frameshift 7/11 - 2
17-7577572-T-G c.709A>C p.M237L Missense 7/11 - 1
17-7577572-ATGTAGTT-A c.703_709del p.N235Cfs*10 Frameshift 7/11 - 1
17-7577572-T-TTA c.708_709insTA p.M237* Nonsense 7/11 - 1
17-7577572-T-A c.709A>T p.M237L Missense 7/11 - 1
17-7577573-G-T c.708C>A p.Y236* Nonsense 7/11 - 9
17-7577573-G-C c.708C>G p.Y236* Nonsense 7/11 - 7
17-7577573-G-A c.708C>T p.Y236= Synonymous 7/11 - 1
17-7577573-TG-T c.708del p.Y236* Frameshift 7/11 - 1
17-7577574-T-C c.707A>G p.Y236C Missense 7/11 - 71
17-7577574-T-G c.707A>C p.Y236S Missense 7/11 - 10
17-7577574-T-A c.707A>T p.Y236F Missense 7/11 - 15
17-7577574-TA-CG c.706_707delinsCG p.Y236R Missense 7/11 - 1
17-7577574-TA-GT c.706_707delinsAC p.Y236T Missense 7/11 - 1
17-7577570-CATGTAGTTGTAGTGG-C c.696_710del p.I232_Y236del InFrameDeletion 7/11 - 1
17-7577575-A-T c.706T>A p.Y236N Missense 7/11 - 15
17-7577575-A-G c.706T>C p.Y236H Missense 7/11 - 20
17-7577575-A-C c.706T>G p.Y236D Missense 7/11 - 19
17-7577572-TGTA-T c.706_708del p.Y236del InFrameDeletion 7/11 - 2
17-7577576-G-C c.705C>G p.N235K Missense 7/11 - 13
17-7577576-G-T c.705C>A p.N235K Missense 7/11 - 13
17-7577576-G-A c.705C>T p.N235= Synonymous 7/11 - 1
17-7577576-AG-A c.705del p.Y236Tfs*11 Frameshift 7/11 - 1
17-7577576-G-GC c.704_705insG p.N235Kfs*5 Frameshift 7/11 - 1
17-7577576-AGTTGTAG-A c.699_705del p.Y234Tfs*11 Frameshift 7/11 - 1
17-7577577-T-C c.704A>G p.N235S Missense 7/11 - 33
17-7577577-T-A c.704A>T p.N235I Missense 7/11 - 4
17-7577577-T-TGTAG c.703_704insCTAC p.N235Tfs*6 Frameshift 7/11 - 1
17-7577577-GTTGTA-G c.700_704del p.Y234Lfs*4 Frameshift 7/11 - 1
17-7577578-T-C c.703A>G p.N235D Missense 7/11 - 13
17-7577571-ATGTAGT-A c.704_709del p.N235_Y236del InFrameDeletion 7/11 - 3
17-7577578-T-A c.703A>T p.N235Y Missense 7/11 - 2
17-7577575-AGTT-A c.703_705del p.N235del InFrameDeletion 7/11 - 1
17-7577579-G-T c.702C>A p.Y234* Nonsense 7/11 - 12
17-7577579-G-C c.702C>G p.Y234* Nonsense 7/11 - 13
17-7577579-GTA-TTG c.700_702delinsCAA p.Y234Q Missense 7/11 - 1
17-7577577-TTGTAGTGGATGGTGG-T c.689_703del p.T230_Y234del InFrameDeletion 7/11 - 1
17-7577580-T-C c.701A>G p.Y234C Missense 7/11 - 132
17-7577580-T-A c.701A>T p.Y234F Missense 7/11 - 7
17-7577580-T-G c.701A>C p.Y234S Missense 7/11 - 9
17-7577580-TA-GC c.700_701delinsGC p.Y234A Missense 7/11 - 1
17-7577580-TA-AG c.700_701delinsCT p.Y234L Missense 7/11 - 1
17-7577580-GTAGTGGAT-G c.694_701del p.I232Qfs*5 Frameshift 7/11 - 1
17-7577577-TTGTAG-T c.699_703del p.H233Qfs*5 Frameshift 7/11 - 1
17-7577581-A-T c.700T>A p.Y234N Missense 7/11 - 24
17-7577581-A-G c.700T>C p.Y234H Missense 7/11 - 45
17-7577581-A-C c.700T>G p.Y234D Missense 7/11 - 10
17-7577578-TGTA-T c.700_702del p.Y234del InFrameDeletion 7/11 - 2
17-7577582-G-A c.699C>T p.H233= Synonymous 7/11 - 1
17-7577578-TGTAGTGGATGGTG-T c.690_702del p.I232Tfs*11 Frameshift 7/11 - 1
17-7577581-AGT-A c.698_699del p.H233Lfs*6 Frameshift 7/11 - 1
17-7577583-T-C c.698A>G p.H233R Missense 7/11 - 2
17-7577583-T-G c.698A>C p.H233P Missense 7/11 - 1
17-7577581-AGTG-A c.697_699del p.H233del InFrameDeletion 7/11 - 1
17-7577583-GTGGATGGTGGT-G c.688_698del p.T230Lfs*6 Frameshift 7/11 - 1
17-7577584-G-A c.697C>T p.H233Y Missense 7/11 - 8
17-7577584-G-T c.697C>A p.H233N Missense 7/11 - 3
17-7577580-TAGTGGATGGTGGTAC-T c.686_700del p.C229_H233del InFrameDeletion 7/11 - 1
17-7577584-G-C c.697C>G p.H233D Missense 7/11 - 1
17-7577584-TGG-T c.696_697del p.H233Lfs*6 Frameshift 7/11 - 2
17-7577583-TG-T c.697del p.H233Tfs*14 Frameshift 7/11 - 1
17-7577585-G-C c.696C>G p.I232M Missense 7/11 - 1
17-7577586-A-G c.695T>C p.I232T Missense 7/11 - 20
17-7577586-A-T c.695T>A p.I232N Missense 7/11 - 11
17-7577586-A-C c.695T>G p.I232S Missense 7/11 - 11
17-7577586-AT-GC c.694_695delinsGC p.I232A Missense 7/11 - 1
17-7577584-GGATGGT-G c.691_696del p.T231_I232del InFrameDeletion 7/11 - 1
17-7577584-GGATGGTGGTACA-G c.685_696del p.C229_I232del InFrameDeletion 7/11 - 1
17-7577587-T-A c.694A>T p.I232F Missense 7/11 - 11
17-7577587-ATGGTG-A c.690_694del p.T231Pfs*7 Frameshift 7/11 - 1
17-7577587-T-C c.694A>G p.I232V Missense 7/11 - 1
17-7577588-G-A c.693C>T p.T231= Synonymous 7/11 - 3
17-7577588-TGGTGGTACAGTCAGAGCCAAC-T c.673_693del p.V225_T231del SpliceAcceptorDeletion 7/11 - 1
17-7577588-GGT-CTC c.691_693delinsGAG p.T231E Missense 7/11 - 2
17-7577588-GG-CA c.692_693delinsTG p.T231M Missense 7/11 - 1
17-7577588-TGGTGGTAC-T c.686_693del p.C229Yfs*8 Frameshift 7/11 - 1
17-7577589-G-T c.692C>A p.T231N Missense 7/11 - 3
17-7577589-GT-TC c.691_692delinsGA p.T231D Missense 7/11 - 1
17-7577587-TG-T c.693del p.I232Sfs*15 Frameshift 7/11 - 1
17-7577589-G-A c.692C>T p.T231I Missense 7/11 - 4
17-7577590-GT-G c.691del p.T231Pfs*16 Frameshift 7/11 - 1
17-7577590-T-C c.691A>G p.T231A Missense 7/11 - 5
17-7577590-T-G c.691A>C p.T231P Missense 7/11 - 2
17-7577586-ATGG-A c.692_694del p.T231del InFrameDeletion 7/11 - 1
17-7577592-G-A c.689C>T p.T230I Missense 7/11 - 3
17-7577592-G-C c.689C>G p.T230S Missense 7/11 - 1
17-7577593-T-A c.688A>T p.T230S Missense 7/11 - 1
17-7577590-TGGTACA-T c.685_690del p.C229_T230del InFrameDeletion 7/11 - 1
17-7577593-T-C c.688A>G p.T230A Missense 7/11 - 4
17-7577593-GT-G c.688del p.T230Pfs*17 Frameshift 7/11 - 2
17-7577593-GTA-G c.687_688del p.T230Hfs*9 Frameshift 7/11 - 1
17-7577593-T-G c.688A>C p.T230P Missense 7/11 - 2
17-7577593-T-TG c.687_688insC p.T230Hfs*10 Frameshift 7/11 - 1
17-7577591-GGTACAGTCAGA-G c.679_689del p.S227Hfs*9 Frameshift 7/11 - 1
17-7577594-A-T c.687T>A p.C229* Nonsense 7/11 - 3
17-7577594-A-G c.687T>C p.C229= Synonymous 7/11 - 1
17-7577591-GGTACA-G c.685_689del p.C229Hfs*9 Frameshift 7/11 - 1
17-7577593-TAC-T c.686_687del p.C229Yfs*10 Frameshift 7/11 - 10
17-7577595-C-T c.686G>A p.C229Y Missense 7/11 - 10
17-7577595-CA-GC c.685_686delinsGC p.C229A Missense 7/11 - 2
17-7577595-C-A c.686G>T p.C229F Missense 7/11 - 1
17-7577595-CA-GT c.685_686delinsAC p.C229T Missense 7/11 - 2
17-7577596-A-G c.685T>C p.C229R Missense 7/11 - 7
17-7577595-C-CA c.685dup p.C229Lfs*11 Frameshift 7/11 - 3
17-7577596-A-T c.685T>A p.C229S Missense 7/11 - 2
17-7577595-C-G c.686G>C p.C229S Missense 7/11 - 2
17-7577596-A-C c.685T>G p.C229G Missense 7/11 - 1
17-7577596-A-AGGTCAAACCCC c.684_685insGGGGTTTGACC p.C229Gfs*3 Frameshift 7/11 - 1
17-7577594-ACAGTCAGAGC-A c.677_686del p.G226Vfs*18 Frameshift 7/11 - 1
17-7577597-GTC-TTA c.682_684delinsTAA p.D228* Nonsense 7/11 - 2
17-7577595-CAGTCAGAGCCA-C c.675_685del p.G226Yfs*10 Frameshift 7/11 - 2
17-7577597-G-C c.684C>G p.D228E Missense 7/11 - 1
17-7577597-G-T c.684C>A p.D228E Missense 7/11 - 1
17-7577597-AGTCAGAGCC-A c.676_684del p.G226_D228del InFrameDeletion 7/11 - 1
17-7577594-ACAGT-A c.683_686del p.D228Vfs*18 Frameshift 7/11 - 5
17-7577598-T-C c.683A>G p.D228G Missense 7/11 - 2
17-7577598-GTC-G c.682_683del p.D228Lfs*11 Frameshift 7/11 - 1
17-7577597-G-GT c.683dup p.D228Efs*12 Frameshift 7/11 - 1
17-7577597-G-GTT c.683_684insAA p.D228Efs*20 Frameshift 7/11 - 1
17-7577599-C-G c.682G>C p.D228H Missense 7/11 - 5
17-7577599-C-T c.682G>A p.D228N Missense 7/11 - 6
17-7577599-C-A c.682G>T p.D228Y Missense 7/11 - 1
17-7577598-TCAGAGCCAA-T c.674_682del p.V225_S227del SpliceAcceptorDeletion 7/11 - 2
17-7577600-AGA-CTT c.679_681delinsAAG p.S227K Missense 7/11 - 5
17-7577599-C-CA c.681dup p.D228* Nonsense 7/11 - 5
17-7577600-A-G c.681T>C p.S227= Synonymous 7/11 - 1
17-7577598-TCAGAGCCAAC-T c.673_682del p.V225Tfs*19 SpliceAcceptorDeletion 7/11 6/10 1
17-7577600-CA-C c.681del p.D228Tfs*19 Frameshift 7/11 - 1
17-7577601-GA-CG c.679_680delinsCG p.S227R Missense 7/11 - 5
17-7577601-G-T c.680C>A p.S227Y Missense 7/11 - 1
17-7577601-GA-AT c.679_680delinsAT p.S227I Missense 7/11 - 1
17-7577601-G-A c.680C>T p.S227F Missense 7/11 - 2
17-7577600-A-AG c.680dup p.D228* Nonsense 7/11 - 1
17-7577601-G-C c.680C>G p.S227C Missense 7/11 - 1
17-7577601-GA-CC c.679_680delinsGG p.S227G Missense 7/11 - 1
17-7577599-CAG-C c.680_681del p.S227* Frameshift 7/11 - 2
17-7577602-A-G c.679T>C p.S227P Missense 7/11 - 2
17-7577602-A-C c.679T>G p.S227A Missense 7/11 - 1
17-7577602-A-T c.679T>A p.S227T Missense 7/11 - 1
17-7577603-GCC-TCA c.676_678delinsTGA p.G226* Nonsense 7/11 - 1
17-7577603-AGCCAAC-A c.673_678del p.V225_G226del SpliceAcceptorDeletion 7/11 - 1
17-7577603-GC-CT c.677_678delinsAG p.G226E Missense 7/11 - 1
17-7577604-CC-TT c.676_677delinsAA p.G226N Missense 7/11 - 1
17-7577604-C-T c.677G>A p.G226D Missense 7/11 - 8
17-7577604-C-G c.677G>C p.G226A Missense 7/11 - 5
17-7577604-C-A c.677G>T p.G226V Missense 7/11 - 2
17-7577604-GCCA-G c.675_677del p.G226del InFrameDeletion 7/11 - 1
17-7577605-C-T c.676G>A p.G226S Missense 7/11 - 5
17-7577603-GC-G c.677del p.G226Afs*21 Frameshift 7/11 - 2
17-7577605-C-G c.676G>C p.G226R Missense 7/11 - 2
17-7577605-C-A c.676G>T p.G226C Missense 7/11 - 1
17-7577604-C-CCAT c.676_677insATG p.V225_G226insD InFrameInsertion 7/11 - 1
17-7577606-AAC-CAT c.673_675delinsATG p.V225M Missense 7/11 - 1
17-7577605-CA-C c.675del p.G226Afs*21 Frameshift 7/11 - 2
17-7577605-C-CA c.675dup p.G226Wfs*3 SpliceAcceptorInsertion 7/11 - 1
17-7577607-AAC-A c.673_674del p.V225Wfs*3 SpliceAcceptorDeletion 7/11 - 1
17-7577607-A-C c.674T>G p.V225G Missense 7/11 - 1
17-7577608-C-T c.673G>A p.V225I Missense 7/11 - 6
17-7577608-C-G c.673G>C p.V225L Missense 7/11 - 1
17-7577608-C-A c.673G>T p.V225F Missense 7/11 - 1
17-7577609-C-A c.673-1G>T - IntronicSNV - 6/10 2
17-7577609-C-T c.673-1G>A - IntronicSNV - 6/10 2
17-7577644-C-G c.673-36G>C - IntronicSNV - 6/10 12
17-7577644-C-T c.673-36G>A - IntronicSNV - 6/10 12
17-7578115-T-A c.672+62A>T - IntronicSNV - 6/10 52
17-7578115-T-C c.672+62A>G - IntronicSNV - 6/10 64
17-7578115-T-G c.672+62A>C - IntronicSNV - 6/10 52
17-7578129-C-A c.672+48G>T - IntronicSNV - 6/10 1
17-7578129-C-T c.672+48G>A - IntronicSNV - 6/10 2
17-7578136-CCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCT-C c.662_672+40del - SpliceDonorDeletion 6/11 6/10 1
17-7578143-C-G c.672+34G>C - IntronicSNV - 6/10 1
17-7578146-T-C c.672+31A>G - IntronicSNV - 6/10 5
17-7578159-C-G c.672+18G>C - IntronicSNV - 6/10 2
17-7578164-T-C c.672+13A>G - IntronicSNV - 6/10 1
17-7578167-GCAAACCAGACCTCA-G c.669_672+10del - SpliceDonorDeletion 6/11 6/10 1
17-7578171-C-T c.672+6G>A - IntronicSNV - 6/10 1
17-7578169-AACCAGACCTCAGGCGGCTCATAGGGCACC-A c.651_672+7del - SpliceDonorDeletion 6/11 6/10 1
17-7578169-AACCAGACCTCAGGCGGCTCATAGGGC-A c.654_672+7del - SpliceDonorDeletion 6/11 6/10 1
17-7578175-A-C c.672+2T>G - IntronicSNV - 6/10 4
17-7578175-A-T c.672+2T>A - IntronicSNV - 6/10 1
17-7578175-A-G c.672+2T>C - IntronicSNV - 6/10 1
17-7578176-C-T c.672+1G>A - IntronicSNV - 6/10 22
17-7578176-C-A c.672+1G>T - IntronicSNV - 6/10 18
17-7578176-C-G c.672+1G>C - IntronicSNV - 6/10 5
17-7578177-C-A c.672G>T p.E224D Missense 6/11 - 31
17-7578177-C-G c.672G>C p.E224D Missense 6/11 - 26
17-7578177-C-T c.672G>A p.E224= Synonymous 6/11 - 16
17-7578177-CCTCAGGCG-C c.665_672del p.P222Rfs*4 SpliceDonorDeletion 6/11 - 1
17-7578178-TC-GA c.670_671inv p.E224S Missense 6/11 - 1
17-7578179-C-T c.670G>A p.E224K Missense 6/11 - 9
17-7578179-C-A c.670G>T p.E224* Nonsense 6/11 - 9
17-7578179-C-G c.670G>C p.E224Q Missense 6/11 - 1
17-7578179-TC-T c.670del p.E224Rfs*23 Frameshift 6/11 - 1
17-7578179-TCAGGCGGC-T c.663_670del p.P222Gfs*4 Frameshift 6/11 - 1
17-7578177-C-CTCAAA c.671_672insTTTGA p.E224Dfs*25 SpliceDonorInsertion 6/11 - 1
17-7578180-CAGGCGGCTCATA-C c.658_669del p.Y220_P223del InFrameDeletion 6/11 - 1
17-7578180-A-G c.669T>C p.P223= Synonymous 6/11 - 1
17-7578180-A-T c.669T>A p.P223= Synonymous 6/11 - 1
17-7578181-G-A c.668C>T p.P223L Missense 6/11 - 60
17-7578181-GG-CA c.667_668delinsTG p.P223C Missense 6/11 - 1
17-7578181-G-C c.668C>G p.P223R Missense 6/11 - 4
17-7578181-G-T c.668C>A p.P223H Missense 6/11 - 2
17-7578178-TCAGGCGGCTCATAGGGCACCACCA-T c.647_670del p.V216_P223del InFrameDeletion 6/11 - 1
17-7578178-TCAGGCGGCTCATAGGGCAC-T c.652_670del p.V218Rfs*23 Frameshift 6/11 - 1
17-7578180-AG-A c.668del p.P223Lfs*24 Frameshift 6/11 - 2
17-7578182-G-A c.667C>T p.P223S Missense 6/11 - 3
17-7578182-G-C c.667C>G p.P223A Missense 6/11 - 1
17-7578182-GCGGCTCATAGGGCACCACC-TGTGGTGGTG c.648_667delinsCACCACCACA p.V217Tfs*27 Frameshift 6/11 - 1
17-7578181-GGC-G c.666_667del p.P223* Frameshift 6/11 - 1
17-7578183-C-A c.666G>T p.P222= Synonymous 6/11 - 6
17-7578183-C-T c.666G>A p.P222= Synonymous 6/11 - 7
17-7578183-C-G c.666G>C p.P222= Synonymous 6/11 - 2
17-7578184-G-A c.665C>T p.P222L Missense 6/11 - 16
17-7578184-G-C c.665C>G p.P222R Missense 6/11 - 1
17-7578180-AGGC-A c.666_668del p.P223del InFrameDeletion 6/11 - 1
17-7578182-GCGGCT-G c.662_666del p.E221Afs*2 Frameshift 6/11 - 1
17-7578185-G-A c.664C>T p.P222S Missense 6/11 - 2
17-7578183-CG-C c.665del p.P222Rfs*25 Frameshift 6/11 - 1
17-7578185-G-C c.664C>G p.P222A Missense 6/11 - 1
17-7578185-GGCTCA-G c.660_664del p.E221Afs*2 Frameshift 6/11 - 1
17-7578186-GC-G c.663del p.E221Dfs*26 Frameshift 6/11 - 1
17-7578186-C-T c.663G>A p.E221= Synonymous 6/11 - 2
17-7578186-GCTCATA-G c.658_663del p.Y220_E221del InFrameDeletion 6/11 - 1
17-7578186-C-G c.663G>C p.E221D Missense 6/11 - 1
17-7578186-C-A c.663G>T p.E221D Missense 6/11 - 1
17-7578186-GCTCA-G c.660_663del p.E221Rfs*25 Frameshift 6/11 - 1
17-7578184-GGCTCATA-G c.658_664del p.Y220Rfs*25 Frameshift 6/11 - 1
17-7578187-T-C c.662A>G p.E221G Missense 6/11 - 4
17-7578187-T-A c.662A>T p.E221V Missense 6/11 - 3
17-7578187-T-G c.662A>C p.E221A Missense 6/11 - 1
17-7578185-GCTCATAGGGCAC-G c.652_663del p.V218_E221del InFrameDeletion 6/11 - 1
17-7578188-C-A c.661G>T p.E221* Nonsense 6/11 - 15
17-7578188-C-T c.661G>A p.E221K Missense 6/11 - 9
17-7578188-TCA-T c.660_661del p.Y220* Frameshift 6/11 - 1
17-7578188-C-G c.661G>C p.E221Q Missense 6/11 - 2
17-7578189-A-T c.660T>A p.Y220* Nonsense 6/11 - 17
17-7578189-A-C c.660T>G p.Y220* Nonsense 6/11 - 15
17-7578189-CATA-C c.658_660del p.Y220del InFrameDeletion 6/11 - 1
17-7578186-CTCATAGGGCACCACCACACTATGTCGAAAAGTGTT-C c.628_662del p.N210Afs*3 Frameshift 6/11 - 1
17-7578187-TCATAGGGCA-T c.653_661del p.V218_Y220del InFrameDeletion 6/11 - 1
17-7578190-T-C c.659A>G p.Y220C Missense 6/11 - 686
17-7578190-T-A c.659A>T p.Y220F Missense 6/11 - 2
17-7578190-T-G c.659A>C p.Y220S Missense 6/11 - 34
17-7578190-TA-GC c.658_659delinsGC p.Y220A Missense 6/11 - 1
17-7578190-TA-GT c.658_659delinsAC p.Y220T Missense 6/11 - 1
17-7578187-TCATAGGGCACCACCA-T c.647_661del p.V216_Y220del InFrameDeletion 6/11 - 1
17-7578190-TA-GG c.658_659delinsCC p.Y220P Missense 6/11 - 1
17-7578191-A-G c.658T>C p.Y220H Missense 6/11 - 34
17-7578191-A-T c.658T>A p.Y220N Missense 6/11 - 23
17-7578191-A-C c.658T>G p.Y220D Missense 6/11 - 9
17-7578191-TA-T c.658del p.Y220Mfs*27 Frameshift 6/11 - 3
17-7578191-TAGGGCACCA-T c.650_658del p.V217_Y220delinsD MultiAAMissense 6/11 - 1
17-7578192-G-A c.657C>T p.P219= Synonymous 6/11 - 1
17-7578192-G-C c.657C>G p.P219= Synonymous 6/11 - 1
17-7578192-G-T c.657C>A p.P219= Synonymous 6/11 - 1
17-7578193-GG-AA c.655_656delinsTT p.P219F Missense 6/11 - 1
17-7578193-G-A c.656C>T p.P219L Missense 6/11 - 5
17-7578193-GGGCACCACCA-G c.647_656del p.V216Afs*28 Frameshift 6/11 - 1
17-7578194-G-A c.655C>T p.P219S Missense 6/11 - 14
17-7578194-G-C c.655C>G p.P219A Missense 6/11 - 1
17-7578191-AG-A c.657del p.Y220Mfs*27 Frameshift 6/11 - 2
17-7578192-GGGCACCACCACACTAT-G c.641_656del p.H214Pfs*28 Frameshift 6/11 - 1
17-7578193-GGCACCACCACACTATGTCGAAAA-G c.633_655del p.F212Lfs*2 Frameshift 6/11 - 1
17-7578195-C-T c.654G>A p.V218= Synonymous 6/11 - 1
17-7578195-GC-G c.654del p.Y220Mfs*27 Frameshift 6/11 - 1
17-7578195-CAC-GAT c.652_654delinsATC p.V218I Missense 6/11 - 1
17-7578195-CAC-ATA c.652_654delinsTAT p.V218Y Missense 6/11 - 1
17-7578196-A-T c.653T>A p.V218E Missense 6/11 - 8
17-7578196-A-G c.653T>C p.V218A Missense 6/11 - 4
17-7578196-A-C c.653T>G p.V218G Missense 6/11 - 16
17-7578196-CACCACCACA-C c.645_653del p.S215_V218delinsR MultiAAMissense 6/11 - 1
17-7578197-C-T c.652G>A p.V218M Missense 6/11 - 6
17-7578197-C-G c.652G>C p.V218L Missense 6/11 - 3
17-7578197-C-A c.652G>T p.V218L Missense 6/11 - 4
17-7578197-ACCACCACAC-A c.644_652del p.S215_V218delinsM MultiAAMissense 6/11 - 1
17-7578197-ACCACCACACT-A c.643_652del p.S215Cfs*29 Frameshift 6/11 - 1
17-7578198-CAC-GTT c.649_651delinsAAC p.V217N Missense 6/11 - 1
17-7578196-AC-A c.652del p.V218Cfs*29 Frameshift 6/11 - 1
17-7578198-C-T c.651G>A p.V217= Synonymous 6/11 - 1
17-7578196-ACCACCACACTATGT-A c.639_652del p.H214Afs*3 Frameshift 6/11 - 1
17-7578198-CCACCACACTATGTCGAAAAGTGTT-C c.628_651del p.N210_V217del InFrameDeletion 6/11 - 1
17-7578198-CA-GT c.650_651delinsAC p.V217D Missense 6/11 - 1
17-7578199-CA-C c.650del p.V217Gfs*30 Frameshift 6/11 - 1
17-7578199-A-C c.650T>G p.V217G Missense 6/11 - 8
17-7578199-A-G c.650T>C p.V217A Missense 6/11 - 1
17-7578199-CACCACACTA-C c.642_650del p.H214_V217delinsQ MultiAAMissense 6/11 - 2
17-7578197-CCACCACACTATGT-C c.639_651del p.H214Cfs*29 Frameshift 6/11 - 1
17-7578200-C-T c.649G>A p.V217M Missense 6/11 - 12
17-7578194-GCAC-G c.652_654del p.V218del InFrameDeletion 6/11 - 17
17-7578201-C-A c.648G>T p.V216= Synonymous 6/11 - 2
17-7578199-AC-A c.649del p.V217Wfs*30 Frameshift 6/11 - 4
17-7578201-C-T c.648G>A p.V216= Synonymous 6/11 - 1
17-7578202-A-C c.647T>G p.V216G Missense 6/11 - 10
17-7578202-A-T c.647T>A p.V216E Missense 6/11 - 9
17-7578202-A-G c.647T>C p.V216A Missense 6/11 - 4
17-7578202-CA-C c.647del p.V216Gfs*31 Frameshift 6/11 - 1
17-7578201-C-CATA c.647_648insTAT p.V216_V217insM InFrameInsertion 6/11 - 1
17-7578202-CACACTATG-C c.640_647del p.H214Gfs*5 Frameshift 6/11 - 1
17-7578203-C-T c.646G>A p.V216M Missense 6/11 - 87
17-7578203-C-G c.646G>C p.V216L Missense 6/11 - 19
17-7578203-C-A c.646G>T p.V216L Missense 6/11 - 21
17-7578204-A-C c.645T>G p.S215R Missense 6/11 - 32
17-7578204-A-T c.645T>A p.S215R Missense 6/11 - 29
17-7578206-T-G c.643A>C p.S215R Missense 6/11 - 34
17-7578204-ACT-TCA c.643_645delinsTGA p.S215* Nonsense 6/11 - 2
17-7578204-CA-C c.645del p.S215Rfs*32 Frameshift 6/11 - 1
17-7578200-CCA-C c.647_648del p.V216Gfs*5 Frameshift 6/11 - 1
17-7578203-C-CAAG c.645_646insCTT p.S215_V216insL InFrameInsertion 6/11 - 1
17-7578204-CACTATGTCGAAAAGT-C c.631_645del p.T211_S215del InFrameDeletion 6/11 - 1
17-7578205-C-A c.644G>T p.S215I Missense 6/11 - 45
17-7578203-CACT-C c.643_645del p.S215del InFrameDeletion 6/11 - 3
17-7578205-C-T c.644G>A p.S215N Missense 6/11 - 26
17-7578203-CACTATGTCGAAA-C c.634_645del p.F212_S215del InFrameDeletion 6/11 - 1
17-7578205-C-G c.644G>C p.S215T Missense 6/11 - 5
17-7578205-CT-GC c.643_644delinsGC p.S215A Missense 6/11 - 8
17-7578205-CT-TC c.643_644delinsGA p.S215D Missense 6/11 - 5
17-7578205-AC-A c.644del p.S215Mfs*32 Frameshift 6/11 - 1
17-7578205-CT-AG c.643_644inv p.S215L Missense 6/11 - 1
17-7578206-T-C c.643A>G p.S215G Missense 6/11 - 40
17-7578206-T-A c.643A>T p.S215C Missense 6/11 - 5
17-7578206-CTATGTCGAAAAGTGTTTCTGTCATCCA-C c.617_643del p.L206_S215delinsC MultiAAMissense 6/11 - 1
17-7578206-CTATGTCG-C c.637_643del p.R213Vfs*32 Frameshift 6/11 - 1
17-7578207-A-C c.642T>G p.H214Q Missense 6/11 - 6
17-7578207-A-G c.642T>C p.H214= Synonymous 6/11 - 2
17-7578207-A-T c.642T>A p.H214Q Missense 6/11 - 3
17-7578205-CTA-C c.642_643del p.H214Qfs*7 Frameshift 6/11 - 5
17-7578207-TATG-T c.640_642del p.H214del InFrameDeletion 6/11 - 1
17-7578207-TA-T c.642del p.H214Qfs*33 Frameshift 6/11 - 2
17-7578206-T-TA c.642dup p.S215* Nonsense 6/11 - 2
17-7578208-T-C c.641A>G p.H214R Missense 6/11 - 76
17-7578208-T-A c.641A>T p.H214L Missense 6/11 - 7
17-7578208-T-G c.641A>C p.H214P Missense 6/11 - 4
17-7578208-T-TCTC c.640_641insGAG p.H214delinsRD MultiAAMissense 6/11 - 1
17-7578206-TATGTCGA-T c.636_642del p.F212Lfs*33 Frameshift 6/11 - 1
17-7578208-AT-A c.641del p.H214Lfs*33 Frameshift 6/11 - 1
17-7578208-TG-GT c.640_641delinsAC p.H214T Missense 6/11 - 1
17-7578208-TG-GC c.640_641delinsGC p.H214A Missense 6/11 - 1
17-7578207-A-AT c.641dup p.H214Qfs*2 Frameshift 6/11 - 1
17-7578206-TATGTCGAAA-T c.634_642del p.F212_H214del InFrameDeletion 6/11 - 1
17-7578209-G-A c.640C>T p.H214Y Missense 6/11 - 11
17-7578209-G-C c.640C>G p.H214D Missense 6/11 - 4
17-7578209-G-T c.640C>A p.H214N Missense 6/11 - 4
17-7578209-TG-T c.640del p.H214Ifs*33 Frameshift 6/11 - 1
17-7578207-ATGTCGAAAAGTG-A c.630_641del p.T211_H214del InFrameDeletion 6/11 - 1
17-7578209-G-GT c.639dup p.H214Tfs*2 Frameshift 6/11 - 1
17-7578210-TCG-CCA c.637_639delinsTGG p.R213W Missense 6/11 - 5
17-7578210-TCG-ACA c.637_639delinsTGT p.R213C Missense 6/11 - 3
17-7578210-TC-AT c.638_639delinsAT p.R213H Missense 6/11 - 1
17-7578210-TCG-GCT c.637_639delinsAGC p.R213S Missense 6/11 - 1
17-7578208-TGTC-T c.638_640del p.R213del InFrameDeletion 6/11 - 1
17-7578210-GTCGAAAAGTGTTTCT-G c.625_639del p.R209_R213del InFrameDeletion 6/11 - 1
17-7578211-C-T c.638G>A p.R213Q Missense 6/11 - 112
17-7578211-C-A c.638G>T p.R213L Missense 6/11 - 47
17-7578211-C-G c.638G>C p.R213P Missense 6/11 - 19
17-7578211-CG-GT c.637_638delinsAC p.R213T Missense 6/11 - 2
17-7578212-G-A c.637C>T p.R213* Nonsense 6/11 - 286
17-7578210-T-C c.639A>G p.R213= Synonymous 6/11 - 58
17-7578210-T-A c.639A>T p.R213= Synonymous 6/11 - 57
17-7578212-G-T c.637C>A p.R213= Synonymous 6/11 - 7
17-7578210-T-G c.639A>C p.R213= Synonymous 6/11 - 7
17-7578212-CG-C c.637del p.R213Dfs*34 Frameshift 6/11 - 3
17-7578212-G-C c.637C>G p.R213G Missense 6/11 - 26
17-7578212-G-GT c.636_637insA p.R213Tfs*3 Frameshift 6/11 - 3
17-7578209-GTCGAAAAGTGTT-G c.628_639del p.N210_R213del InFrameDeletion 6/11 - 1
17-7578209-GTCGAAAAGTGTTTCTGTCA-G c.621_639del p.D208Ifs*33 Frameshift 6/11 - 1
17-7578213-A-G c.636T>C p.F212= Synonymous 6/11 - 1
17-7578215-A-T c.634T>A p.F212I Missense 6/11 - 2
17-7578215-AAAG-A c.632_634del p.T211_F212delinsI MultiAAMissense 6/11 - 1
17-7578215-A-C c.634T>G p.F212V Missense 6/11 - 4
17-7578212-GAA-G c.635_636del p.F212Sfs*3 Frameshift 6/11 - 2
17-7578215-A-G c.634T>C p.F212L Missense 6/11 - 1
17-7578213-AAAAGTGTTTCTGTC-A c.622_635del p.D208Sfs*3 Frameshift 6/11 - 1
17-7578215-AAAGTGTTTCT-A c.625_634del p.R209Ffs*35 Frameshift 6/11 - 1
17-7578215-AAAGTGTT-A c.628_634del p.N210Ffs*35 Frameshift 6/11 - 1
17-7578212-G-GA c.636dup p.R213Sfs*3 Frameshift 6/11 - 3
17-7578216-AAG-A c.632_633del p.T211Ifs*4 Frameshift 6/11 - 2
17-7578212-GA-G c.636del p.R213Dfs*34 Frameshift 6/11 - 9
17-7578216-AGT-CTC c.631_633delinsGAG p.T211E Missense 6/11 - 1
17-7578216-A-G c.633T>C p.T211= Synonymous 6/11 - 2
17-7578216-AG-CC c.632_633delinsGG p.T211R Missense 6/11 - 1
17-7578216-AG-CA c.632_633delinsTG p.T211M Missense 6/11 - 1
17-7578216-AG-CT c.632_633inv p.T211K Missense 6/11 - 1
17-7578214-AAAGTGTTTCTGTC-A c.622_634del p.D208Ffs*35 Frameshift 6/11 - 1
17-7578217-G-A c.632C>T p.T211I Missense 6/11 - 29
17-7578217-G-T c.632C>A p.T211N Missense 6/11 - 2
17-7578218-T-A c.631A>T p.T211S Missense 6/11 - 1
17-7578217-G-C c.632C>G p.T211S Missense 6/11 - 2
17-7578217-AGTGTTTCTGTCATC-A c.619_632del p.D207Ffs*4 Frameshift 6/11 - 1
17-7578217-GT-TC c.631_632delinsGA p.T211D Missense 6/11 - 1
17-7578217-GT-TG c.631_632delinsCA p.T211H Missense 6/11 - 1
17-7578218-T-C c.631A>G p.T211A Missense 6/11 - 6
17-7578218-T-G c.631A>C p.T211P Missense 6/11 - 1
17-7578217-G-GTTCTTCT c.631_632insAGAAGAA p.T211Kfs*7 Frameshift 6/11 - 1
17-7578217-G-GT c.631dup p.T211Nfs*5 Frameshift 6/11 - 1
17-7578218-GTGTTTCT-G c.625_631del p.R209Lfs*36 Frameshift 6/11 - 1
17-7578216-AGT-A c.631_632del p.T211Ffs*4 Frameshift 6/11 - 2
17-7578219-G-C c.630C>G p.N210K Missense 6/11 - 2
17-7578219-G-T c.630C>A p.N210K Missense 6/11 - 2
17-7578220-T-C c.629A>G p.N210S Missense 6/11 - 2
17-7578220-TT-CC c.628_629delinsGG p.N210G Missense 6/11 - 1
17-7578220-T-G c.629A>C p.N210T Missense 6/11 - 1
17-7578220-GTTTCT-G c.625_629del p.R209Hfs*5 Frameshift 6/11 - 1
17-7578221-T-TA c.627_628insT p.N210* Nonsense 6/11 - 3
17-7578221-T-C c.628A>G p.N210D Missense 6/11 - 2
17-7578221-T-A c.628A>T p.N210Y Missense 6/11 - 2
17-7578219-GTTTC-G c.626_629del p.R209Tfs*37 Frameshift 6/11 - 2
17-7578221-T-G c.628A>C p.N210H Missense 6/11 - 1
17-7578222-TCT-CCA c.625_627delinsTGG p.R209W Missense 6/11 - 17
17-7578222-T-G c.627A>C p.R209S Missense 6/11 - 2
17-7578222-T-A c.627A>T p.R209S Missense 6/11 - 2
17-7578219-GT-G c.629del p.N210Tfs*37 Frameshift 6/11 - 2
17-7578219-G-GT c.629dup p.N210Kfs*6 Frameshift 6/11 - 1
17-7578222-TTCTGTCATCCAA-T c.616_627del p.L206_R209del InFrameDeletion 6/11 - 1
17-7578222-TCT-ACA c.625_627delinsTGT p.R209C Missense 6/11 - 1
17-7578220-TTTCTGTCA-T c.621_628del p.D207Efs*6 Frameshift 6/11 - 1
17-7578221-TTC-T c.626_627del p.R209Kfs*6 Frameshift 6/11 - 37
17-7578223-C-A c.626G>T p.R209I Missense 6/11 - 1
17-7578223-C-T c.626G>A p.R209K Missense 6/11 - 12
17-7578223-CT-TG c.625_626delinsCA p.R209Q Missense 6/11 - 18
17-7578223-CT-GG c.625_626delinsCC p.R209P Missense 6/11 - 6
17-7578223-CT-AG c.625_626inv p.R209L Missense 6/11 - 3
17-7578223-C-G c.626G>C p.R209T Missense 6/11 - 4
17-7578224-T-TA c.624_625insT p.R209* Nonsense 6/11 - 7
17-7578224-T-A c.625A>T p.R209* Nonsense 6/11 - 13
17-7578224-CT-C c.625del p.R209Efs*38 Frameshift 6/11 - 1
17-7578222-TCTGTCATC-T c.619_626del p.D207Kfs*6 Frameshift 6/11 - 1
17-7578225-TG-T c.624del p.D208Efs*39 Frameshift 6/11 - 1
17-7578225-G-C c.624C>G p.D208E Missense 6/11 - 2
17-7578225-G-T c.624C>A p.D208E Missense 6/11 - 2
17-7578225-G-A c.624C>T p.D208= Synonymous 6/11 - 1
17-7578226-T-C c.623A>G p.D208G Missense 6/11 - 4
17-7578224-TGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCG-T c.586_624del p.V197_R209del InFrameDeletion 6/11 - 1
17-7578226-T-G c.623A>C p.D208A Missense 6/11 - 2
17-7578226-T-A c.623A>T p.D208V Missense 6/11 - 13
17-7578226-TC-AT c.622_623delinsAT p.D208I Missense 6/11 - 1
17-7578227-C-T c.622G>A p.D208N Missense 6/11 - 7
17-7578227-C-A c.622G>T p.D208Y Missense 6/11 - 3
17-7578227-C-G c.622G>C p.D208H Missense 6/11 - 1
17-7578227-C-CA c.621dup p.D208* Nonsense 6/11 - 2
17-7578228-ATC-TTA c.619_621delinsTAA p.D207* Nonsense 6/11 - 1
17-7578228-A-G c.621T>C p.D207= Synonymous 6/11 - 1
17-7578228-ATC-CAT c.619_621delinsATG p.D207M Missense 6/11 - 1
17-7578228-A-C c.621T>G p.D207E Missense 6/11 - 1
17-7578228-A-T c.621T>A p.D207E Missense 6/11 - 1
17-7578229-T-C c.620A>G p.D207G Missense 6/11 - 3
17-7578226-TCATC-T c.619_622del p.D207Tfs*39 Frameshift 6/11 - 1
17-7578229-T-G c.620A>C p.D207A Missense 6/11 - 1
17-7578229-T-A c.620A>T p.D207V Missense 6/11 - 1
17-7578226-TCATCCAAATACTCCA-T c.608_622del p.V203_D207del InFrameDeletion 6/11 - 1
17-7578230-C-A c.619G>T p.D207Y Missense 6/11 - 1
17-7578230-C-T c.619G>A p.D207N Missense 6/11 - 1
17-7578231-C-G c.618G>C p.L206F Missense 6/11 - 1
17-7578231-C-A c.618G>T p.L206F Missense 6/11 - 1
17-7578231-C-AA c.618delinsTT p.L206Ffs*2 Frameshift 6/11 - 1
17-7578229-T-TC c.619dup p.D207Gfs*2 Frameshift 6/11 - 1
17-7578231-C-T c.618G>A p.L206= Synonymous 6/11 - 1
17-7578232-A-T c.617T>A p.L206* Nonsense 6/11 - 3
17-7578232-AA-GG c.616_617delinsCC p.L206P Missense 6/11 - 1
17-7578232-AA-CT c.616_617delinsAG p.L206R Missense 6/11 - 1
17-7578232-A-C c.617T>G p.L206W Missense 6/11 - 1
17-7578233-A-T c.616T>A p.L206M Missense 6/11 - 1
17-7578234-A-T c.615T>A p.Y205* Nonsense 6/11 - 4
17-7578234-A-C c.615T>G p.Y205* Nonsense 6/11 - 4
17-7578234-A-G c.615T>C p.Y205= Synonymous 6/11 - 1
17-7578235-T-C c.614A>G p.Y205C Missense 6/11 - 78
17-7578235-T-A c.614A>T p.Y205F Missense 6/11 - 19
17-7578235-T-G c.614A>C p.Y205S Missense 6/11 - 16
17-7578233-AAT-A c.614_615del p.Y205Ffs*3 Frameshift 6/11 - 1
17-7578235-ATACTCC-A c.609_614del p.E204_Y205del InFrameDeletion 6/11 - 1
17-7578233-AATACTCC-A c.609_615del p.E204Wfs*41 Frameshift 6/11 - 1
17-7578236-A-G c.613T>C p.Y205H Missense 6/11 - 22
17-7578236-A-T c.613T>A p.Y205N Missense 6/11 - 6
17-7578236-A-C c.613T>G p.Y205D Missense 6/11 - 31
17-7578236-A-AT c.612_613insA p.Y205Ifs*4 Frameshift 6/11 - 2
17-7578234-ATACTCCACACGCAAATT-A c.598_614del p.N200Ffs*3 Frameshift 6/11 - 1
17-7578237-C-G c.612G>C p.E204D Missense 6/11 - 1
17-7578237-C-A c.612G>T p.E204D Missense 6/11 - 1
17-7578236-ACTC-A c.610_612del p.E204del InFrameDeletion 6/11 - 2
17-7578238-T-G c.611A>C p.E204A Missense 6/11 - 3
17-7578238-T-A c.611A>T p.E204V Missense 6/11 - 1
17-7578236-ACT-A c.611_612del p.E204Vfs*4 Frameshift 6/11 - 1
17-7578238-T-C c.611A>G p.E204G Missense 6/11 - 2
17-7578239-C-A c.610G>T p.E204* Nonsense 6/11 - 53
17-7578239-C-T c.610G>A p.E204K Missense 6/11 - 5
17-7578239-C-G c.610G>C p.E204Q Missense 6/11 - 1
17-7578238-TC-T c.610del p.E204Sfs*43 Frameshift 6/11 - 5
17-7578240-CAC-GAT c.607_609delinsATC p.V203I Missense 6/11 - 1
17-7578241-A-G c.608T>C p.V203A Missense 6/11 - 17
17-7578241-A-T c.608T>A p.V203E Missense 6/11 - 5
17-7578242-C-T c.607G>A p.V203M Missense 6/11 - 11
17-7578242-C-G c.607G>C p.V203L Missense 6/11 - 9
17-7578242-C-A c.607G>T p.V203L Missense 6/11 - 11
17-7578242-ACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAG-A c.572_607del p.P191_V203delinsL MultiAAMissense 6/11 - 1
17-7578243-ACG-TCA c.604_606delinsTGA p.R202* Nonsense 6/11 - 2
17-7578243-A-G c.606T>C p.R202= Synonymous 6/11 - 4
17-7578237-CTCCACACGCAAATTTCCT-C c.594_611del p.G199_E204del InFrameDeletion 6/11 - 2
17-7578243-ACG-CTT c.604_606delinsAAG p.R202K Missense 6/11 - 1
17-7578244-CG-AC c.604_605delinsGT p.R202V Missense 6/11 - 1
17-7578242-CACGCAA-C c.601_606del p.L201_R202del InFrameDeletion 6/11 - 1
17-7578244-AC-A c.605del p.R202Lfs*45 Frameshift 6/11 - 1
17-7578244-CG-GC c.604_605delinsGC p.R202A Missense 6/11 - 1
17-7578244-C-A c.605G>T p.R202L Missense 6/11 - 5
17-7578244-C-T c.605G>A p.R202H Missense 6/11 - 8
17-7578241-ACACG-A c.604_607del p.R202Wfs*44 Frameshift 6/11 - 1
17-7578245-G-A c.604C>T p.R202C Missense 6/11 - 11
17-7578245-G-C c.604C>G p.R202G Missense 6/11 - 2
17-7578245-G-T c.604C>A p.R202S Missense 6/11 - 4
17-7578246-CAA-GTT c.601_603delinsAAC p.L201N Missense 6/11 - 1
17-7578243-ACGCAAATTTCCTTCCACT-A c.588_605del p.G199_E204del InFrameDeletion 6/11 - 1
17-7578246-C-A c.603G>T p.L201F Missense 6/11 - 2
17-7578245-G-GC c.603dup p.R202Afs*7 Frameshift 6/11 - 1
17-7578246-C-G c.603G>C p.L201F Missense 6/11 - 1
17-7578247-A-ATGTTACACATGTAGTTGTAG c.601_602insCTACAACTACATGTGTAACA p.L201Sfs*53 Frameshift 6/11 - 1
17-7578247-A-T c.602T>A p.L201* Nonsense 6/11 - 8
17-7578247-A-ATGT c.601_602insACA p.L201delinsYM MultiAAMissense 6/11 - 1
17-7578247-A-AC c.601_602insG p.L201Cfs*8 Frameshift 6/11 - 1
17-7578245-GCAAATTTCCTT-G c.593_603del p.E198Afs*7 Frameshift 6/11 - 1
17-7578248-AATTTCCTTCCACTCGGATAA-GAGTGGAAG c.581_601delinsCTTCCACTC p.L194_N200delinsPST MultiAAMissense 6/11 - 1
17-7578248-A-G c.601T>C p.L201= Synonymous 6/11 - 1
17-7578246-CAA-C c.601_602del p.L201Afs*7 Frameshift 6/11 - 1
17-7578248-AAATTTCCTT-A c.593_601del p.E198_L201delinsV MultiAAMissense 6/11 - 1
17-7578246-C-CA c.602dup p.L201Ffs*8 Frameshift 6/11 - 2
17-7578246-CA-C c.602del p.L201Cfs*46 Frameshift 6/11 - 4
17-7578249-A-G c.600T>C p.N200= Synonymous 6/11 - 1
17-7578249-A-C c.600T>G p.N200K Missense 6/11 - 1
17-7578249-A-T c.600T>A p.N200K Missense 6/11 - 1
17-7578249-AATTTC-A c.596_600del p.G199Vfs*8 Frameshift 6/11 - 1
17-7578250-ATTTC-A c.596_599del p.G199Vfs*47 Frameshift 6/11 - 2
17-7578250-T-C c.599A>G p.N200S Missense 6/11 - 3
17-7578250-T-A c.599A>T p.N200I Missense 6/11 - 2
17-7578251-TTTC-T c.596_598del p.G199_N200delinsD MultiAAMissense 6/11 - 1
17-7578251-T-A c.598A>T p.N200Y Missense 6/11 - 1
17-7578251-T-C c.598A>G p.N200D Missense 6/11 - 1
17-7578251-TTTCCTTCCACTCGG-T c.585_598del p.R196Ffs*8 Frameshift 6/11 - 1
17-7578252-TCC-GTT c.595_597delinsAAC p.G199N Missense 6/11 - 1
17-7578249-AT-A c.599del p.N200Ifs*47 Frameshift 6/11 - 4
17-7578250-TTTCCTTCCACTCGGA-T c.584_598del p.I195_G199del InFrameDeletion 6/11 - 2
17-7578252-T-A c.597A>T p.G199= Synonymous 6/11 - 2
17-7578252-T-C c.597A>G p.G199= Synonymous 6/11 - 2
17-7578252-T-G c.597A>C p.G199= Synonymous 6/11 - 2
17-7578252-TCC-GCT c.595_597delinsAGC p.G199S Missense 6/11 - 1
17-7578252-TTCCTTCC-T c.591_597del p.E198Ifs*47 Frameshift 6/11 - 1
17-7578253-C-A c.596G>T p.G199V Missense 6/11 - 27
17-7578253-C-T c.596G>A p.G199E Missense 6/11 - 16
17-7578253-CC-AG c.595_596delinsCT p.G199L Missense 6/11 - 1
17-7578253-C-G c.596G>C p.G199A Missense 6/11 - 1
17-7578254-C-T c.595G>A p.G199R Missense 6/11 - 9
17-7578254-C-G c.595G>C p.G199R Missense 6/11 - 3
17-7578254-C-A c.595G>T p.G199* Nonsense 6/11 - 6
17-7578252-T-TC c.596dup p.N200Kfs*9 Frameshift 6/11 - 1
17-7578255-T-C c.594A>G p.E198= Synonymous 6/11 - 1
17-7578255-T-G c.594A>C p.E198D Missense 6/11 - 1
17-7578255-T-A c.594A>T p.E198D Missense 6/11 - 1
17-7578256-T-C c.593A>G p.E198G Missense 6/11 - 4
17-7578256-T-TG c.592_593insC p.E198Afs*11 Frameshift 6/11 - 1
17-7578257-C-A c.592G>T p.E198* Nonsense 6/11 - 21
17-7578257-C-T c.592G>A p.E198K Missense 6/11 - 5
17-7578257-C-G c.592G>C p.E198Q Missense 6/11 - 1
17-7578257-TCCACTCG-T c.586_592del p.R196Kfs*49 Frameshift 6/11 - 1
17-7578256-TC-T c.592del p.E198Kfs*49 Frameshift 6/11 - 2
17-7578259-A-T c.590T>A p.V197E Missense 6/11 - 9
17-7578259-A-C c.590T>G p.V197G Missense 6/11 - 16
17-7578259-A-G c.590T>C p.V197A Missense 6/11 - 3
17-7578259-AC-CT c.589_590delinsAG p.V197R Missense 6/11 - 1
17-7578260-C-T c.589G>A p.V197M Missense 6/11 - 26
17-7578260-C-G c.589G>C p.V197L Missense 6/11 - 5
17-7578260-C-A c.589G>T p.V197L Missense 6/11 - 7
17-7578256-TCCACTCGGATAAGATGCTGAGGAGGGG-T c.566_592del p.A189_V197del InFrameDeletion 6/11 - 1
17-7578260-C-CT c.588dup p.V197Sfs*12 Frameshift 6/11 - 2
17-7578261-TCG-GTT c.586_588delinsAAC p.R196N Missense 6/11 - 1
17-7578261-TC-AT c.587_588delinsAT p.R196H Missense 6/11 - 1
17-7578261-CTCGGAT-C c.583_588del p.I195_R196del InFrameDeletion 6/11 - 1
17-7578261-CTCGGATA-C c.582_588del p.I195Wfs*50 Frameshift 6/11 - 1
17-7578262-C-T c.587G>A p.R196Q Missense 6/11 - 24
17-7578262-CG-TT c.586_587delinsAA p.R196K Missense 6/11 - 3
17-7578262-C-G c.587G>C p.R196P Missense 6/11 - 20
17-7578262-TCGG-T c.585_587del p.R196del InFrameDeletion 6/11 - 1
17-7578262-C-A c.587G>T p.R196L Missense 6/11 - 10
17-7578260-C-CTCA c.588_589insTGA p.R196_V197ins* Nonsense 6/11 - 1
17-7578262-CG-GC c.586_587delinsGC p.R196A Missense 6/11 - 1
17-7578259-ACTCGGATAAGATGCTGAGGAGGGGCCAGAC-A c.560_589del p.G187_R196del SpliceAcceptorDeletion 6/11 5/10 1
17-7578262-CG-TC c.586_587delinsGA p.R196E Missense 6/11 - 1
17-7578262-C-CTT c.586_587insAA p.R196Qfs*52 Frameshift 6/11 - 1
17-7578263-G-A c.586C>T p.R196* Nonsense 6/11 - 212
17-7578263-G-C c.586C>G p.R196G Missense 6/11 - 13
17-7578263-CGGATA-C c.582_586del p.I195Sfs*12 Frameshift 6/11 - 1
17-7578264-G-T c.585C>A p.I195= Synonymous 6/11 - 1
17-7578264-G-C c.585C>G p.I195M Missense 6/11 - 5
17-7578262-CGGATAAGAT-C c.578_586del p.H193_I195del InFrameDeletion 6/11 - 2
17-7578264-G-A c.585C>T p.I195= Synonymous 6/11 - 2
17-7578264-GGAT-G c.583_585del p.I195del InFrameDeletion 6/11 - 1
17-7578265-A-T c.584T>A p.I195N Missense 6/11 - 25
17-7578265-A-G c.584T>C p.I195T Missense 6/11 - 136
17-7578265-A-C c.584T>G p.I195S Missense 6/11 - 10
17-7578262-CGGATAAGATGCTGAGGA-C c.570_586del p.P191Sfs*12 Frameshift 6/11 - 3
17-7578265-GA-G c.584del p.I195Tfs*52 Frameshift 6/11 - 1
17-7578266-T-A c.583A>T p.I195F Missense 6/11 - 39
17-7578266-T-G c.583A>C p.I195L Missense 6/11 - 5
17-7578266-AT-A c.583del p.I195Sfs*52 Frameshift 6/11 - 1
17-7578265-A-AT c.583dup p.I195Nfs*14 Frameshift 6/11 - 2
17-7578262-CGGATAAGATGCTGA-C c.573_586del p.Q192Sfs*12 Frameshift 6/11 - 1
17-7578266-T-C c.583A>G p.I195V Missense 6/11 - 2
17-7578264-GATAAGATGCTGAGGAGGGGCC-G c.564_584del p.A189_I195del InFrameDeletion 6/11 - 1
17-7578267-AAG-TTA c.580_582delinsTAA p.L194* Nonsense 6/11 - 1
17-7578267-A-G c.582T>C p.L194= Synonymous 6/11 - 2
17-7578268-A-C c.581T>G p.L194R Missense 6/11 - 80
17-7578268-A-G c.581T>C p.L194P Missense 6/11 - 18
17-7578268-A-T c.581T>A p.L194H Missense 6/11 - 18
17-7578266-TA-T c.582del p.I195Sfs*52 Frameshift 6/11 - 3
17-7578266-TAAG-T c.580_582del p.L194del InFrameDeletion 6/11 - 2
17-7578266-T-TA c.582dup p.I195Yfs*14 Frameshift 6/11 - 1
17-7578268-AG-CT c.580_581inv p.L194S Missense 6/11 - 1
17-7578268-AAGATGCTGAG-A c.572_581del p.P191Lfs*53 Frameshift 6/11 - 1
17-7578268-AAGATGCTGAGGAG-A c.569_581del p.P190Lfs*53 Frameshift 6/11 - 1
17-7578269-G-A c.580C>T p.L194F Missense 6/11 - 112
17-7578269-AG-A c.580del p.I195Sfs*52 Frameshift 6/11 - 1
17-7578269-G-C c.580C>G p.L194V Missense 6/11 - 2
17-7578269-G-T c.580C>A p.L194I Missense 6/11 - 3
17-7578265-A-ATAAGGATGC c.583_584insGCATCCTTA p.L194_I195insSIL InFrameInsertion 6/11 - 1
17-7578270-A-T c.579T>A p.H193Q Missense 6/11 - 2
17-7578270-A-C c.579T>G p.H193Q Missense 6/11 - 2
17-7578271-T-C c.578A>G p.H193R Missense 6/11 - 142
17-7578271-T-G c.578A>C p.H193P Missense 6/11 - 27
17-7578271-T-A c.578A>T p.H193L Missense 6/11 - 70
17-7578270-A-AT c.578dup p.H193Qfs*16 Frameshift 6/11 - 1
17-7578271-ATGCTGAGG-A c.571_578del p.P191Sfs*15 Frameshift 6/11 - 2
17-7578271-TG-GC c.577_578delinsGC p.H193A Missense 6/11 - 2
17-7578271-ATGCTGAG-A c.572_578del p.P191Lfs*54 Frameshift 6/11 - 1
17-7578271-TG-GT c.577_578delinsAC p.H193T Missense 6/11 - 1
17-7578268-AGATGCT-A c.575_580del p.Q192_H193del InFrameDeletion 6/11 - 1
17-7578271-AT-A c.578del p.H193Lfs*54 Frameshift 6/11 - 1
17-7578272-G-A c.577C>T p.H193Y Missense 6/11 - 65
17-7578272-G-C c.577C>G p.H193D Missense 6/11 - 12
17-7578272-G-T c.577C>A p.H193N Missense 6/11 - 11
17-7578270-ATGC-A c.576_578del p.Q192del InFrameDeletion 6/11 - 3
17-7578273-C-A c.576G>T p.Q192H Missense 6/11 - 6
17-7578273-C-G c.576G>C p.Q192H Missense 6/11 - 7
17-7578271-TGCTGAG-T c.572_577del p.P191_Q192del InFrameDeletion 6/11 - 2
17-7578273-C-T c.576G>A p.Q192= Synonymous 6/11 - 1
17-7578274-T-C c.575A>G p.Q192R Missense 6/11 - 12
17-7578274-TG-GC c.574_575delinsGC p.Q192A Missense 6/11 - 2
17-7578271-TGCTGAGGAGGG-T c.567_577del p.P190Sfs*15 Frameshift 6/11 - 1
17-7578274-CT-C c.575del p.Q192Rfs*55 Frameshift 6/11 - 1
17-7578274-T-A c.575A>T p.Q192L Missense 6/11 - 2
17-7578275-G-A c.574C>T p.Q192* Nonsense 6/11 - 98
17-7578275-TGAGGAGGGG-T c.566_574del p.A189_Q192delinsE MultiAAMissense 6/11 - 1
17-7578275-TG-T c.574del p.Q192Sfs*55 Frameshift 6/11 - 1
17-7578275-G-GA c.573dup p.Q192Sfs*17 Frameshift 6/11 - 1
17-7578277-G-A c.572C>T p.P191L Missense 6/11 - 3
17-7578275-GAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCA-G c.559+37_573del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/11 5/10 1
17-7578277-G-C c.572C>G p.P191R Missense 6/11 - 5
17-7578277-G-T c.572C>A p.P191H Missense 6/11 - 2
17-7578277-AGG-A c.571_572del p.P191Sfs*17 Frameshift 6/11 - 2
17-7578276-AG-A c.572del p.P191Lfs*56 Frameshift 6/11 - 3
17-7578278-G-A c.571C>T p.P191S Missense 6/11 - 2
17-7578275-GAGGAGGGGCC-G c.564_573del p.A189Sfs*55 Frameshift 6/11 - 1
17-7578274-TGAG-T c.572_574del p.P191del InFrameDeletion 6/11 - 20
17-7578278-G-GATA c.570_571insTAT p.P190_P191insY InFrameInsertion 6/11 - 1
17-7578280-G-A c.569C>T p.P190L Missense 6/11 - 47
17-7578280-G-C c.569C>G p.P190R Missense 6/11 - 6
17-7578281-G-C c.568C>G p.P190A Missense 6/11 - 13
17-7578281-G-A c.568C>T p.P190S Missense 6/11 - 8
17-7578281-G-T c.568C>A p.P190T Missense 6/11 - 8
17-7578278-GAGGGGCC-G c.564_570del p.A189Lfs*56 Frameshift 6/11 - 1
17-7578282-G-A c.567C>T p.A189= Synonymous 6/11 - 2
17-7578282-G-T c.567C>A p.A189= Synonymous 6/11 - 1
17-7578282-G-C c.567C>G p.A189= Synonymous 6/11 - 1
17-7578283-G-A c.566C>T p.A189V Missense 6/11 - 20
17-7578283-GC-TT c.565_566delinsAA p.A189N Missense 6/11 - 1
17-7578279-AG-A c.569del p.P190Lfs*57 Frameshift 6/11 - 4
17-7578283-G-T c.566C>A p.A189D Missense 6/11 - 1
17-7578284-C-T c.565G>A p.A189T Missense 6/11 - 4
17-7578284-C-G c.565G>C p.A189P Missense 6/11 - 3
17-7578284-C-A c.565G>T p.A189S Missense 6/11 - 2
17-7578284-GCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCC-G c.559+29_565del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/11 5/10 1
17-7578285-CCA-C c.563_564del p.L188Rfs*20 Frameshift 6/11 - 1
17-7578285-CCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCT-C c.559+28_564del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/11 5/10 1
17-7578285-C-T c.564G>A p.L188= Synonymous 6/11 - 3
17-7578285-C-G c.564G>C p.L188= Synonymous 6/11 - 2
17-7578283-GC-G c.565del p.A189Pfs*58 Frameshift 6/11 - 1
17-7578285-CAG-GTC c.562_564delinsGAC p.L188D Missense 6/11 - 1
17-7578285-C-A c.564G>T p.L188= Synonymous 6/11 - 1
17-7578287-G-A c.562C>T p.L188= Synonymous 6/11 - 1
17-7578286-AG-TC c.562_563delinsGA p.L188E Missense 6/11 - 1
17-7578286-A-G c.563T>C p.L188P Missense 6/11 - 2
17-7578286-AG-TA c.562_563delinsTA p.L188* Missense 6/11 - 1
17-7578286-A-T c.563T>A p.L188Q Missense 6/11 - 1
17-7578287-AG-A c.562del p.L188Wfs*59 Frameshift 6/11 - 2
17-7578287-G-T c.562C>A p.L188M Missense 6/11 - 2
17-7578289-C-T c.560G>A p.G187D Missense 6/11 - 7
17-7578289-C-A c.560G>T p.G187V Missense 6/11 - 1
17-7578290-C-G c.560-1G>C - IntronicSNV - 5/10 2
17-7578290-C-T c.560-1G>A - IntronicSNV - 5/10 2
17-7578329-T-C c.560-40A>G - IntronicSNV - 5/10 1
17-7578346-CGTCTCTCCAGCCCCA-C c.559+10_559+24del - IntronicDeletion - 5/10 1
17-7578354-CAGCCCCAGCTGCTCACCATCGCTATCTG-C c.548_559+16del - SpliceDonorDeletion 5/11 5/10 1
17-7578358-CCCAGCTGCTCACCAT-C c.557_559+12del - SpliceDonorDeletion 5/11 5/10 1
17-7578359-CCAGCTGCTCACCAT-C c.557_559+11del - SpliceDonorDeletion 5/11 5/10 1
17-7578368-C-A c.559+3G>T - IntronicSNV - 5/10 1
17-7578369-A-G c.559+2T>C - IntronicSNV - 5/10 2
17-7578369-A-C c.559+2T>G - IntronicSNV - 5/10 2
17-7578369-CA-C c.559+2del - IntronicDeletion - 5/10 2
17-7578369-CACCAT-C c.557_559+2del - SpliceDonorDeletion 5/11 5/10 1
17-7578370-C-T c.559+1G>A - IntronicSNV - 5/10 18
17-7578370-C-A c.559+1G>T - IntronicSNV - 5/10 8
17-7578370-C-G c.559+1G>C - IntronicSNV - 5/10 2
17-7578368-CACCATCGCTATCTG-C c.548_559+2del - SpliceDonorDeletion 5/11 5/10 1
17-7578371-C-CG c.558_559insC p.G187Rfs*22 SpliceDonorInsertion 5/11 - 2
17-7578371-C-CT c.558_559insA p.G187Rfs*22 SpliceDonorInsertion 5/11 - 2
17-7578371-C-T c.559G>A p.G187S Missense 5/11 - 16
17-7578371-C-A c.559G>T p.G187C Missense 5/11 - 1
17-7578371-C-G c.559G>C p.G187R Missense 5/11 - 3
17-7578369-A-AC c.559+1dup - SpliceDonorInsertion 5/11 - 1
17-7578369-AC-A c.559+1del - IntronicDeletion 5/11 - 1
17-7578371-CCATCGCTATCTG-C c.548_559del p.S183_G187delinsC SpliceDonorDeletion 5/11 - 1
17-7578371-C-CA c.558dup p.G187Wfs*22 SpliceDonorInsertion 5/11 - 2
17-7578372-A-T c.558T>A p.D186E Missense 5/11 - 6
17-7578372-A-G c.558T>C p.D186= Synonymous 5/11 - 4
17-7578372-CA-C c.558del p.D186Efs*61 Frameshift 5/11 - 1
17-7578373-T-G c.557A>C p.D186A Missense 5/11 - 6
17-7578373-T-C c.557A>G p.D186G Missense 5/11 - 2
17-7578374-C-T c.556G>A p.D186N Missense 5/11 - 8
17-7578375-G-C c.555C>G p.S185R Missense 5/11 - 1
17-7578375-G-A c.555C>T p.S185= Synonymous 5/11 - 4
17-7578376-C-T c.554G>A p.S185N Missense 5/11 - 8
17-7578376-GC-G c.554del p.S185Tfs*62 Frameshift 5/11 - 1
17-7578376-CT-TC c.553_554delinsGA p.S185D Missense 5/11 - 1
17-7578376-CT-GC c.553_554delinsGC p.S185A Missense 5/11 - 2
17-7578377-T-C c.553A>G p.S185G Missense 5/11 - 2
17-7578377-T-A c.553A>T p.S185C Missense 5/11 - 1
17-7578377-CT-C c.553del p.S185Afs*62 Frameshift 5/11 - 1
17-7578375-GCTAT-G c.551_554del p.D184Afs*62 Frameshift 5/11 - 7
17-7578376-CTA-C c.552_553del p.D184Efs*24 Frameshift 5/11 - 1
17-7578377-T-TA c.552dup p.S185* Nonsense 5/11 - 1
17-7578378-A-C c.552T>G p.D184E Missense 5/11 - 1
17-7578378-A-T c.552T>A p.D184E Missense 5/11 - 1
17-7578378-ATC-TTA c.550_552delinsTAA p.D184* Nonsense 5/11 - 1
17-7578379-AT-A c.551del p.D184Vfs*63 Frameshift 5/11 - 3
17-7578377-TATCTGAGC-T c.545_552del p.C182* Frameshift 5/11 - 1
17-7578379-T-G c.551A>C p.D184A Missense 5/11 - 2
17-7578379-T-C c.551A>G p.D184G Missense 5/11 - 2
17-7578380-C-CA c.549_550insT p.D184* Nonsense 5/11 - 4
17-7578380-C-T c.550G>A p.D184N Missense 5/11 - 10
17-7578380-C-G c.550G>C p.D184H Missense 5/11 - 3
17-7578378-ATC-A c.550_551del p.D184* Frameshift 5/11 - 2
17-7578380-C-A c.550G>T p.D184Y Missense 5/11 - 2
17-7578381-T-A c.549A>T p.S183= Synonymous 5/11 - 2
17-7578381-T-C c.549A>G p.S183= Synonymous 5/11 - 1
17-7578381-T-G c.549A>C p.S183= Synonymous 5/11 - 1
17-7578379-TCTGAG-T c.546_550del p.C182* Frameshift 5/11 - 2
17-7578381-CTGAGCAGCGCT-C c.539_549del p.E180Gfs*2 Frameshift 5/11 - 1
17-7578381-TGA-GTC c.547_549delinsGAC p.S183D Missense 5/11 - 1
17-7578381-TG-AT c.548_549delinsAT p.S183Y Missense 5/11 - 1
17-7578380-C-CTCTTCTT c.549_550insAAGAAGA p.D184Kfs*4 Frameshift 5/11 - 1
17-7578381-CTGAGCAGCGCTCATGGTG-C c.532_549del p.H178_S183del InFrameDeletion 5/11 - 1
17-7578381-CTGA-C c.547_549del p.S183del InFrameDeletion 5/11 - 1
17-7578380-C-CT c.549dup p.D184Rfs*2 Frameshift 5/11 - 1
17-7578382-G-C c.548C>G p.S183* Nonsense 5/11 - 34
17-7578382-G-T c.548C>A p.S183* Nonsense 5/11 - 18
17-7578382-G-A c.548C>T p.S183L Missense 5/11 - 5
17-7578382-TG-T c.548del p.S183* Frameshift 5/11 - 1
17-7578382-GA-TC c.547_548inv p.S183E Missense 5/11 - 1
17-7578382-G-GAAC c.547_548insGTT p.C182dup InFrameInsertion 5/11 - 1
17-7578381-TGA-T c.547_548del p.S183Rfs*2 Frameshift 5/11 - 3
17-7578383-A-C c.547T>G p.S183A Missense 5/11 - 6
17-7578381-TGAGCAGCGCTCATGGTGG-T c.531_548del p.H178_S183del InFrameDeletion 5/11 - 1
17-7578384-G-T c.546C>A p.C182* Nonsense 5/11 - 4
17-7578384-G-A c.546C>T p.C182= Synonymous 5/11 - 1
17-7578384-G-C c.546C>G p.C182W Missense 5/11 - 2
17-7578385-C-T c.545G>A p.C182Y Missense 5/11 - 4
17-7578385-CA-GT c.544_545delinsAC p.C182T Missense 5/11 - 3
17-7578385-CA-GC c.544_545delinsGC p.C182A Missense 5/11 - 4
17-7578385-C-CT c.544_545insA p.C182* Nonsense 5/11 - 1
17-7578386-A-T c.544T>A p.C182S Missense 5/11 - 14
17-7578385-C-G c.545G>C p.C182S Missense 5/11 - 14
17-7578382-GAGC-G c.545_547del p.C182del InFrameDeletion 5/11 - 4
17-7578386-A-C c.544T>G p.C182G Missense 5/11 - 1
17-7578386-CA-C c.544del p.C182Afs*65 Frameshift 5/11 - 1
17-7578384-GCAGCGCTCATGGTGGGGGCAGCGCCT-G c.520_545del p.R174Lfs*3 Frameshift 5/11 - 3
17-7578387-AG-A c.543del p.C182Afs*65 Frameshift 5/11 - 1
17-7578387-G-C c.543C>G p.R181= Synonymous 5/11 - 1
17-7578387-GCG-CTC c.541_543delinsGAG p.R181E Missense 5/11 - 8
17-7578384-GCAGCGCT-G c.539_545del p.E180Afs*65 Frameshift 5/11 - 1
17-7578387-G-A c.543C>T p.R181= Synonymous 5/11 - 1
17-7578388-C-G c.542G>C p.R181P Missense 5/11 - 32
17-7578388-C-T c.542G>A p.R181H Missense 5/11 - 60
17-7578388-C-A c.542G>T p.R181L Missense 5/11 - 20
17-7578388-CG-GC c.541_542delinsGC p.R181A Missense 5/11 - 3
17-7578388-CG-TA c.541_542delinsTA p.R181Y Missense 5/11 - 1
17-7578389-G-A c.541C>T p.R181C Missense 5/11 - 55
17-7578389-G-T c.541C>A p.R181S Missense 5/11 - 4
17-7578390-C-G c.540G>C p.E180D Missense 5/11 - 1
17-7578390-C-A c.540G>T p.E180D Missense 5/11 - 1
17-7578389-G-GC c.540dup p.R181Afs*5 Frameshift 5/11 - 1
17-7578388-CGCTCATGGTGGG-C c.530_541del p.P177_E180del InFrameDeletion 5/11 - 1
17-7578383-AGCAGCGCTCATGGTGGGG-A c.529_546del p.P177_C182del InFrameDeletion 5/11 - 18
17-7578391-TC-CT c.538_539delinsAG p.E180R Missense 5/11 - 11
17-7578391-TC-GA c.538_539inv p.E180S Missense 5/11 - 1
17-7578391-T-G c.539A>C p.E180A Missense 5/11 - 2
17-7578391-TC-AG c.538_539delinsCT p.E180L Missense 5/11 - 1
17-7578391-T-C c.539A>G p.E180G Missense 5/11 - 2
17-7578392-C-A c.538G>T p.E180* Nonsense 5/11 - 15
17-7578392-C-T c.538G>A p.E180K Missense 5/11 - 36
17-7578392-TCATGGTGGGGGC-T c.527_538del p.C176_E180delins* MultiAAMissense 5/11 - 1
17-7578392-TCATGGTGGGGGCAGC-T c.524_538del p.R175_E180delinsQ MultiAAMissense 5/11 - 1
17-7578392-TCATGG-T c.534_538del p.H178Qfs*6 Frameshift 5/11 - 1
17-7578393-A-T c.537T>A p.H179Q Missense 5/11 - 43
17-7578393-A-C c.537T>G p.H179Q Missense 5/11 - 48
17-7578389-GCTCATGGTGGGGGCAGCGCCTCACAAC-G c.514_540del p.V172_E180del InFrameDeletion 5/11 - 1
17-7578393-A-G c.537T>C p.H179= Synonymous 5/11 - 4
17-7578393-ATG-TTA c.535_537delinsTAA p.H179* Nonsense 5/11 - 2
17-7578393-CATG-C c.535_537del p.H179del InFrameDeletion 5/11 - 6
17-7578393-ATG-CAT c.535_537inv p.H179M Missense 5/11 - 1
17-7578393-ATG-CTC c.535_537delinsGAG p.H179E Missense 5/11 - 1
17-7578393-CATGGTGGGGGCAGCG-C c.523_537del p.R175_H179del InFrameDeletion 5/11 - 1
17-7578392-C-CA c.537dup p.E180* Nonsense 5/11 - 1
17-7578393-CATGGTGGGG-C c.529_537del p.P177_H179del InFrameDeletion 5/11 - 1
17-7578393-CATGGTGGGGGCAG-C c.525_537del p.C176Sfs*67 Frameshift 5/11 - 1
17-7578393-A-AG c.536_537insC p.E180* Nonsense 5/11 - 1
17-7578394-T-A c.536A>T p.H179L Missense 5/11 - 46
17-7578394-T-C c.536A>G p.H179R Missense 5/11 - 227
17-7578394-T-G c.536A>C p.H179P Missense 5/11 - 18
17-7578394-TG-CC c.535_536delinsGG p.H179G Missense 5/11 - 2
17-7578395-G-A c.535C>T p.H179Y Missense 5/11 - 130
17-7578395-G-C c.535C>G p.H179D Missense 5/11 - 25
17-7578395-G-T c.535C>A p.H179N Missense 5/11 - 29
17-7578395-TGGTGGGGGC-T c.527_535del p.C176_H179delinsY MultiAAMissense 5/11 - 1
17-7578396-G-C c.534C>G p.H178Q Missense 5/11 - 8
17-7578396-G-T c.534C>A p.H178Q Missense 5/11 - 3
17-7578394-TG-T c.535del p.H179Mfs*68 Frameshift 5/11 - 1
17-7578396-GTG-TTA c.532_534delinsTAA p.H178* Nonsense 5/11 - 1
17-7578394-TGGTGGGGGCA-T c.526_535del p.C176Mfs*68 Frameshift 5/11 - 1
17-7578397-T-G c.533A>C p.H178P Missense 5/11 - 16
17-7578397-T-A c.533A>T p.H178L Missense 5/11 - 2
17-7578397-TG-GC c.532_533delinsGC p.H178A Missense 5/11 - 4
17-7578397-T-C c.533A>G p.H178R Missense 5/11 - 1
17-7578397-T-TAGG c.532_533insCCT p.H178delinsPY MultiAAMissense 5/11 - 1
17-7578397-GTGGGGGCAGCGC-G c.522_533del p.R174_H178delinsS MultiAAMissense 5/11 - 1
17-7578398-G-T c.532C>A p.H178N Missense 5/11 - 3
17-7578398-G-C c.532C>G p.H178D Missense 5/11 - 22
17-7578398-G-A c.532C>T p.H178Y Missense 5/11 - 13
17-7578400-G-C c.530C>G p.P177R Missense 5/11 - 36
17-7578400-G-A c.530C>T p.P177L Missense 5/11 - 30
17-7578400-GG-CA c.529_530delinsTG p.P177C Missense 5/11 - 1
17-7578400-G-T c.530C>A p.P177H Missense 5/11 - 5
17-7578400-GG-AC c.529_530delinsGT p.P177V Missense 5/11 - 1
17-7578400-GG-AT c.529_530delinsAT p.P177I Missense 5/11 - 1
17-7578398-GGGGGCA-G c.526_531del p.C176_P177del InFrameDeletion 5/11 - 2
17-7578400-GGGGCAGCGCCTCACAACCTCCGTC-G c.507_530del p.M169_P177delinsI MultiAAMissense 5/11 - 1
17-7578398-GGGGGCAGCGCCTCACAACCTCCGTCAT-G c.505_531del p.M169_P177del InFrameDeletion 5/11 - 1
17-7578400-G-GTCA c.529_530insTGA p.P177delinsLT MultiAAMissense 5/11 - 1
17-7578401-G-A c.529C>T p.P177S Missense 5/11 - 12
17-7578401-GGGCAGCGCCTCACAA-G c.515_529del p.V172_P177delinsA MultiAAMissense 5/11 - 1
17-7578401-G-T c.529C>A p.P177T Missense 5/11 - 11
17-7578397-TGG-T c.531_532del p.H178Pfs*2 Frameshift 5/11 - 1
17-7578401-GGGCAGCGCCT-G c.520_529del p.R174Pfs*70 Frameshift 5/11 - 1
17-7578402-G-C c.528C>G p.C176W Missense 5/11 - 29
17-7578397-T-TG c.532dup p.H178Pfs*3 Frameshift 5/11 - 5
17-7578402-G-T c.528C>A p.C176* Nonsense 5/11 - 12
17-7578397-TG-T c.532del p.H178Tfs*69 Frameshift 5/11 - 12
17-7578400-GGGCAGC-G c.524_529del p.R175_C176del InFrameDeletion 5/11 - 3
17-7578402-GGCAGCGCCT-G c.520_528del p.R174_C176del InFrameDeletion 5/11 - 2
17-7578402-G-A c.528C>T p.C176= Synonymous 5/11 - 1
17-7578403-C-A c.527G>T p.C176F Missense 5/11 - 194
17-7578403-C-T c.527G>A p.C176Y Missense 5/11 - 113
17-7578403-CA-GT c.526_527delinsAC p.C176T Missense 5/11 - 2
17-7578403-GC-G c.527del p.C176Sfs*71 Frameshift 5/11 - 2
17-7578403-C-CT c.526_527insA p.C176* Nonsense 5/11 - 1
17-7578403-C-CTT c.526_527insAA p.C176* Nonsense 5/11 - 1
17-7578403-CA-GC c.526_527delinsGC p.C176A Missense 5/11 - 1
17-7578404-A-T c.526T>A p.C176S Missense 5/11 - 49
17-7578404-A-G c.526T>C p.C176R Missense 5/11 - 29
17-7578404-CAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACG-C c.468_526del p.V157Pfs*4 InFrameDeletion 5/11 - 3
17-7578403-C-G c.527G>C p.C176S Missense 5/11 - 22
17-7578404-A-C c.526T>G p.C176G Missense 5/11 - 14
17-7578401-GGCA-G c.526_528del p.C176del InFrameDeletion 5/11 - 1
17-7578404-CAG-C c.525_526del p.C176Pfs*4 Frameshift 5/11 - 1
17-7578405-GCG-CCA c.523_525delinsTGG p.R175W Missense 5/11 - 3
17-7578405-GCG-TCA c.523_525delinsTGA p.R175* Nonsense 5/11 - 2
17-7578405-G-T c.525C>A p.R175= Synonymous 5/11 - 5
17-7578405-G-C c.525C>G p.R175= Synonymous 5/11 - 2
17-7578405-G-A c.525C>T p.R175= Synonymous 5/11 - 3
17-7578405-AGCGCCTCAC-A c.517_525del p.V173_R175del InFrameDeletion 5/11 - 1
17-7578405-GCG-CAT c.523_525delinsATG p.R175M Missense 5/11 - 1
17-7578405-GCG-CTT c.523_525delinsAAG p.R175K Missense 5/11 - 2
17-7578402-GCAGCGCCT-G c.520_527del p.R174Pfs*4 Frameshift 5/11 - 1
17-7578406-C-T c.524G>A p.R175H Missense 5/11 - 2000
17-7578406-C-A c.524G>T p.R175L Missense 5/11 - 63
17-7578406-CG-GC c.523_524delinsGC p.R175A Missense 5/11 - 6
17-7578406-CG-TC c.523_524delinsGA p.R175D Missense 5/11 - 8
17-7578406-CG-TA c.523_524delinsTA p.R175Y Missense 5/11 - 3
17-7578406-C-G c.524G>C p.R175P Missense 5/11 - 54
17-7578406-GC-G c.524del p.R175Pfs*72 Frameshift 5/11 - 3
17-7578407-G-A c.523C>T p.R175C Missense 5/11 - 52
17-7578407-G-C c.523C>G p.R175G Missense 5/11 - 51
17-7578407-G-T c.523C>A p.R175S Missense 5/11 - 11
17-7578404-AGC-A c.524_525del p.R175Lfs*5 Frameshift 5/11 - 1
17-7578405-GCGCCTCACAAC-G c.514_524del p.V172Lfs*5 Frameshift 5/11 - 1
17-7578404-AGCGCCTCACAACCTCCGTCATGT-A c.503_525del p.H168Lfs*5 Frameshift 5/11 - 1
17-7578408-CC-GT c.521_522delinsAC p.R174N Missense 5/11 - 1
17-7578408-CCT-ATG c.520_522delinsCAT p.R174H Missense 5/11 - 3
17-7578408-C-G c.522G>C p.R174S Missense 5/11 - 5
17-7578408-C-A c.522G>T p.R174S Missense 5/11 - 5
17-7578409-CT-GC c.520_521delinsGC p.R174A Missense 5/11 - 4
17-7578409-CT-AG c.520_521inv p.R174L Missense 5/11 - 5
17-7578409-CT-TG c.520_521delinsCA p.R174Q Missense 5/11 - 11
17-7578409-CT-TA c.520_521delinsTA p.R174* Nonsense 5/11 - 20
17-7578407-GCCTCACAAC-G c.514_522del p.V172_R174del InFrameDeletion 5/11 - 3
17-7578409-C-T c.521G>A p.R174K Missense 5/11 - 20
17-7578409-C-A c.521G>T p.R174M Missense 5/11 - 1
17-7578408-C-CCG c.521_522insCG p.R174Sfs*74 Frameshift 5/11 - 2
17-7578409-CT-TC c.520_521delinsGA p.R174E Missense 5/11 - 1
17-7578409-C-G c.521G>C p.R174T Missense 5/11 - 1
17-7578410-T-TA c.519_520insT p.R174* Nonsense 5/11 - 5
17-7578410-T-A c.520A>T p.R174W Missense 5/11 - 14
17-7578410-T-C c.520A>G p.R174G Missense 5/11 - 7
17-7578411-TCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGC-T c.461_519del p.G154Efs*7 InFrameDeletion 5/11 - 3
17-7578411-CAC-GAT c.517_519delinsATC p.V173I Missense 5/11 - 1
17-7578411-C-T c.519G>A p.V173= Synonymous 5/11 - 1
17-7578412-A-G c.518T>C p.V173A Missense 5/11 - 34
17-7578412-A-C c.518T>G p.V173G Missense 5/11 - 19
17-7578412-A-T c.518T>A p.V173E Missense 5/11 - 16
17-7578412-AC-CA c.517_518delinsTG p.V173W Missense 5/11 - 2
17-7578412-AC-TA c.517_518delinsTA p.V173* Nonsense 5/11 - 1
17-7578413-C-T c.517G>A p.V173M Missense 5/11 - 105
17-7578413-C-G c.517G>C p.V173L Missense 5/11 - 45
17-7578413-C-A c.517G>T p.V173L Missense 5/11 - 87
17-7578413-C-CTA c.516_517insTA p.V173* Nonsense 5/11 - 2
17-7578413-AC-A c.517del p.V173* Frameshift 5/11 - 2
17-7578414-A-G c.516T>C p.V172= Synonymous 5/11 - 3
17-7578412-ACAACCT-A c.512_517del p.E171_V172del InFrameDeletion 5/11 - 2
17-7578414-A-C c.516T>G p.V172= Synonymous 5/11 - 4
17-7578414-CAACCTCCG-C c.509_516del p.T170Sfs*8 Frameshift 5/11 - 1
17-7578415-A-T c.515T>A p.V172D Missense 5/11 - 11
17-7578413-C-CA c.516dup p.V173Cfs*8 Frameshift 5/11 - 2
17-7578415-A-G c.515T>C p.V172A Missense 5/11 - 5
17-7578415-A-C c.515T>G p.V172G Missense 5/11 - 3
17-7578415-A-AT c.514_515insA p.V172Dfs*9 Frameshift 5/11 - 1
17-7578413-CA-C c.516del p.V173* Frameshift 5/11 - 2
17-7578414-A-AACCTC c.511_515dup p.V173Rfs*3 Frameshift 5/11 - 1
17-7578416-C-A c.514G>T p.V172F Missense 5/11 - 42
17-7578416-C-T c.514G>A p.V172I Missense 5/11 - 5
17-7578416-ACCTCCGTCATGTGCTG-A c.499_514del p.Q167Lfs*2 Frameshift 5/11 - 1
17-7578417-CTC-GTT c.511_513delinsAAC p.E171N Missense 5/11 - 1
17-7578417-C-T c.513G>A p.E171= Synonymous 5/11 - 1
17-7578415-A-AC c.514dup p.V172Gfs*9 Frameshift 5/11 - 1
17-7578415-AC-A c.514del p.V172Lfs*2 Frameshift 5/11 - 2
17-7578416-C-CCCT c.513_514insAGG p.E171_V172insR InFrameInsertion 5/11 - 1
17-7578415-ACCTCCGT-A c.508_514del p.T170Lfs*2 Frameshift 5/11 - 1
17-7578417-C-A c.513G>T p.E171D Missense 5/11 - 1
17-7578418-T-C c.512A>G p.E171G Missense 5/11 - 11
17-7578418-CT-C c.512del p.E171Gfs*3 Frameshift 5/11 - 5
17-7578415-ACCT-A c.512_514del p.E171del InFrameDeletion 5/11 - 2
17-7578418-TC-CT c.511_512delinsAG p.E171R Missense 5/11 - 1
17-7578418-T-G c.512A>C p.E171A Missense 5/11 - 1
17-7578419-TCCGTCATG-T c.504_511del p.H168Qfs*10 Frameshift 5/11 - 1
17-7578419-C-A c.511G>T p.E171* Nonsense 5/11 - 24
17-7578419-C-T c.511G>A p.E171K Missense 5/11 - 15
17-7578419-C-CA c.510_511insT p.E171* Nonsense 5/11 - 1
17-7578419-TCCGTCATGTGC-T c.501_511del p.H168Gfs*9 Frameshift 5/11 - 2
17-7578420-CG-GT c.509_510delinsAC p.T170N Missense 5/11 - 1
17-7578418-TC-T c.511del p.E171Rfs*3 Frameshift 5/11 - 1
17-7578420-C-A c.510G>T p.T170= Synonymous 5/11 - 2
17-7578420-C-T c.510G>A p.T170= Synonymous 5/11 - 1
17-7578420-C-G c.510G>C p.T170= Synonymous 5/11 - 1
17-7578420-CGT-ACA c.508_510delinsTGT p.T170C Missense 5/11 - 1
17-7578418-TCCGTCATGTG-T c.502_511del p.H168Rfs*3 Frameshift 5/11 - 1
17-7578421-G-A c.509C>T p.T170M Missense 5/11 - 11
17-7578419-CCGT-C c.508_510del p.T170del InFrameDeletion 5/11 - 2
17-7578421-CG-C c.509del p.T170Rfs*4 Frameshift 5/11 - 1
17-7578421-G-C c.509C>G p.T170R Missense 5/11 - 3
17-7578422-T-C c.508A>G p.T170A Missense 5/11 - 2
17-7578420-CGTCATGT-C c.503_509del p.H168Rfs*4 Frameshift 5/11 - 1
17-7578423-C-G c.507G>C p.M169I Missense 5/11 - 2
17-7578423-C-T c.507G>A p.M169I Missense 5/11 - 8
17-7578423-C-A c.507G>T p.M169I Missense 5/11 - 2
17-7578423-CAT-ACA c.505_507delinsTGT p.M169C Missense 5/11 - 1
17-7578424-CA-C c.506del p.M169Rfs*5 Frameshift 5/11 - 1
17-7578424-A-C c.506T>G p.M169R Missense 5/11 - 1
17-7578423-C-CA c.506dup p.M169Ifs*12 Frameshift 5/11 - 2
17-7578424-A-G c.506T>C p.M169T Missense 5/11 - 2
17-7578422-TCATGTGCTGTGA-T c.496_507del p.S166_M169del InFrameDeletion 5/11 - 1
17-7578424-CATGTGCTGTGACTGCTTGTAGATGGCCATGGCG-C c.474_506del p.A159_M169del InFrameDeletion 5/11 - 1
17-7578422-TCATGTGCTGTGACTG-T c.493_507del p.Q165_M169del InFrameDeletion 5/11 - 1
17-7578425-T-C c.505A>G p.M169V Missense 5/11 - 1
17-7578426-TG-T c.504del p.H168Qfs*2 Frameshift 5/11 - 1
17-7578426-G-A c.504C>T p.H168= Synonymous 5/11 - 3
17-7578426-G-T c.504C>A p.H168Q Missense 5/11 - 3
17-7578426-G-C c.504C>G p.H168Q Missense 5/11 - 3
17-7578426-GTG-AAGATA c.502_504delinsTATCTT p.H168delinsYL MultiAAMissense 5/11 - 1
17-7578427-T-C c.503A>G p.H168R Missense 5/11 - 52
17-7578427-T-A c.503A>T p.H168L Missense 5/11 - 11
17-7578427-T-G c.503A>C p.H168P Missense 5/11 - 19
17-7578427-TG-AC c.502_503delinsGT p.H168V Missense 5/11 - 1
17-7578428-G-A c.502C>T p.H168Y Missense 5/11 - 8
17-7578428-G-T c.502C>A p.H168N Missense 5/11 - 3
17-7578428-TG-T c.502del p.H168Tfs*2 Frameshift 5/11 - 1
17-7578429-GC-G c.501del p.Q167Hfs*3 Frameshift 5/11 - 2
17-7578429-C-T c.501G>A p.Q167= Synonymous 5/11 - 3
17-7578429-C-A c.501G>T p.Q167H Missense 5/11 - 2
17-7578429-C-G c.501G>C p.Q167H Missense 5/11 - 2
17-7578428-G-GC c.501dup p.H168Afs*13 Frameshift 5/11 - 1
17-7578429-GCTGTGACTGCTTGTAGATGGCCATGGC-G c.475_501del p.A159_Q167del InFrameDeletion 5/11 - 1
17-7578430-T-A c.500A>T p.Q167L Missense 5/11 - 1
17-7578430-T-C c.500A>G p.Q167R Missense 5/11 - 1
17-7578431-G-A c.499C>T p.Q167* Nonsense 5/11 - 32
17-7578431-G-T c.499C>A p.Q167K Missense 5/11 - 1
17-7578431-G-C c.499C>G p.Q167E Missense 5/11 - 1
17-7578431-G-GT c.498dup p.Q167Tfs*14 Frameshift 5/11 - 3
17-7578432-T-C c.498A>G p.S166= Synonymous 5/11 - 3
17-7578429-CTG-C c.499_500del p.Q167Afs*13 Frameshift 5/11 - 2
17-7578432-T-A c.498A>T p.S166= Synonymous 5/11 - 2
17-7578432-T-G c.498A>C p.S166= Synonymous 5/11 - 2
17-7578432-GTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCC-G c.460_498del p.G154_S166del InFrameDeletion 5/11 - 1
17-7578432-TGA-GTT c.496_498delinsAAC p.S166N Missense 5/11 - 1
17-7578433-G-A c.497C>T p.S166L Missense 5/11 - 5
17-7578433-G-C c.497C>G p.S166* Nonsense 5/11 - 17
17-7578433-G-T c.497C>A p.S166* Nonsense 5/11 - 22
17-7578432-T-TG c.497dup p.Q167Tfs*14 Frameshift 5/11 - 1
17-7578434-A-C c.496T>G p.S166A Missense 5/11 - 12
17-7578434-A-T c.496T>A p.S166T Missense 5/11 - 1
17-7578434-A-G c.496T>C p.S166P Missense 5/11 - 2
17-7578433-G-GATTGCTTAT c.496_497insATAAGCAAT p.Y163_Q165dup InFrameInsertion 5/11 - 1
17-7578435-C-A c.495G>T p.Q165H Missense 5/11 - 2
17-7578435-C-G c.495G>C p.Q165H Missense 5/11 - 2
17-7578433-GACTGCTTGT-G c.488_496del p.Y163_Q165del InFrameDeletion 5/11 - 1
17-7578436-TG-GA c.493_494delinsTC p.Q165S Missense 5/11 - 1
17-7578436-T-C c.494A>G p.Q165R Missense 5/11 - 1
17-7578436-T-G c.494A>C p.Q165P Missense 5/11 - 2
17-7578437-G-A c.493C>T p.Q165* Nonsense 5/11 - 44
17-7578437-G-T c.493C>A p.Q165K Missense 5/11 - 5
17-7578436-T-TG c.493dup p.Q165Pfs*16 Frameshift 5/11 - 1
17-7578437-G-GA c.492_493insT p.Q165Sfs*16 Frameshift 5/11 - 1
17-7578437-TGCTTGTAGA-T c.485_493del p.I162_Q165delinsK MultiAAMissense 5/11 - 1
17-7578438-CTT-ACA c.490_492delinsTGT p.K164C Missense 5/11 - 1
17-7578438-C-G c.492G>C p.K164N Missense 5/11 - 6
17-7578438-C-A c.492G>T p.K164N Missense 5/11 - 5
17-7578435-CTGCT-C c.491_494del p.K164Sfs*5 Frameshift 5/11 - 1
17-7578439-T-C c.491A>G p.K164R Missense 5/11 - 17
17-7578439-T-G c.491A>C p.K164T Missense 5/11 - 2
17-7578436-TGCTTGTAGATGGCCATG-T c.477_493del p.M160Vfs*15 Frameshift 5/11 - 1
17-7578440-T-A c.490A>T p.K164* Nonsense 5/11 - 13
17-7578440-T-C c.490A>G p.K164E Missense 5/11 - 23
17-7578440-TTGTAGATGG-T c.482_490del p.A161_K164delinsE MultiAAMissense 5/11 - 1
17-7578438-CT-C c.491del p.K164Sfs*6 Frameshift 5/11 - 4
17-7578440-T-G c.490A>C p.K164Q Missense 5/11 - 1
17-7578441-G-T c.489C>A p.Y163* Nonsense 5/11 - 6
17-7578441-G-C c.489C>G p.Y163* Nonsense 5/11 - 11
17-7578441-G-A c.489C>T p.Y163= Synonymous 5/11 - 2
17-7578442-T-C c.488A>G p.Y163C Missense 5/11 - 184
17-7578442-T-G c.488A>C p.Y163S Missense 5/11 - 7
17-7578442-T-A c.488A>T p.Y163F Missense 5/11 - 1
17-7578440-TGTAGATG-T c.483_489del p.I162Sfs*6 Frameshift 5/11 - 1
17-7578442-T-TTG c.487_488insCA p.Y163Sfs*8 Frameshift 5/11 - 1
17-7578439-TTGTAGA-T c.485_490del p.I162_Y163del InFrameDeletion 5/11 - 1
17-7578443-A-G c.487T>C p.Y163H Missense 5/11 - 29
17-7578443-A-T c.487T>A p.Y163N Missense 5/11 - 20
17-7578443-A-C c.487T>G p.Y163D Missense 5/11 - 9
17-7578443-TAGA-T c.485_487del p.I162_Y163delinsN MultiAAMissense 5/11 - 1
17-7578443-TAGATGGCCATGGCGCGGACG-T c.468_487del p.V157Qfs*17 Frameshift 5/11 - 1
17-7578443-TAGATGGC-T c.481_487del p.A161Tfs*7 Frameshift 5/11 - 1
17-7578444-G-C c.486C>G p.I162M Missense 5/11 - 2
17-7578444-G-T c.486C>A p.I162= Synonymous 5/11 - 1
17-7578444-G-A c.486C>T p.I162= Synonymous 5/11 - 6
17-7578444-AGATGGCCATGGCGCGGACGCGGGTGC-A c.461_486del p.G154Vfs*18 Frameshift 5/11 - 1
17-7578445-A-T c.485T>A p.I162N Missense 5/11 - 6
17-7578445-A-C c.485T>G p.I162S Missense 5/11 - 5
17-7578445-A-G c.485T>C p.I162T Missense 5/11 - 2
17-7578444-G-GA c.485dup p.Y163Lfs*18 Frameshift 5/11 - 1
17-7578443-AGATGGCCATG-A c.477_486del p.M160Tfs*7 Frameshift 5/11 - 1
17-7578445-AT-CC c.484_485delinsGG p.I162G Missense 5/11 - 1
17-7578443-AGATGGCCATGGCGCGGAC-A c.469_486del p.V157_I162del InFrameDeletion 5/11 - 1
17-7578443-AGATGGCCATGGCGCGGACGCG-A c.466_486del p.R156_I162del InFrameDeletion 5/11 - 1
17-7578446-T-A c.484A>T p.I162F Missense 5/11 - 17