TP53

TP53 tumor protein p53

Annotation transcript: NM_000546.6

9965 unique variant annotations were identified in 15175 publications
Gene-Specific Resource Links:
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gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
17-7571752-T-G c.*1175A>C - 3-UTRSNV 11/11 - 115
17-7571757-G-A c.*1170C>T - 3-UTRSNV 11/11 - 1
17-7571758-T-C c.*1169A>G - 3-UTRSNV 11/11 - 1
17-7571818-G-C c.*1109C>G - 3-UTRSNV 11/11 - 1
17-7571833-T-G c.*1094A>C - 3-UTRSNV 11/11 - 1
17-7571853-T-C c.*1074A>G - 3-UTRSNV 11/11 - 1
17-7571857-G-A c.*1070C>T - 3-UTRSNV 11/11 - 4
17-7571857-G-C c.*1070C>G - 3-UTRSNV 11/11 - 4
17-7571860-C-T c.*1067G>A - 3-UTRSNV 11/11 - 1
17-7571874-G-A c.*1053C>T - 3-UTRSNV 11/11 - 1
17-7571874-G-T c.*1053C>A - 3-UTRSNV 11/11 - 1
17-7571891-T-C c.*1036A>G - 3-UTRSNV 11/11 - 1
17-7571900-C-A c.*1027G>T - 3-UTRSNV 11/11 - 1
17-7571927-C-T c.*1000G>A - 3-UTRSNV 11/11 - 1
17-7571931-T-A c.*996A>T - 3-UTRSNV 11/11 - 1
17-7571967-G-A c.*960C>T - 3-UTRSNV 11/11 - 1
17-7571977-A-G c.*950T>C - 3-UTRSNV 11/11 - 1
17-7571977-A-T c.*950T>A - 3-UTRSNV 11/11 - 1
17-7571991-T-C c.*936A>G - 3-UTRSNV 11/11 - 2
17-7572017-A-G c.*910T>C - 3-UTRSNV 11/11 - 1
17-7572037-A-G c.*890T>C - 3-UTRSNV 11/11 - 1
17-7572041-C-T c.*886G>A - 3-UTRSNV 11/11 - 3
17-7572063-C-A c.*864G>T - 3-UTRSNV 11/11 - 1
17-7572063-C-T c.*864G>A - 3-UTRSNV 11/11 - 1
17-7572068-C-T c.*859G>A - 3-UTRSNV 11/11 - 1
17-7572072-G-A c.*855C>T - 3-UTRSNV 11/11 - 1
17-7572075-G-A c.*852C>T - 3-UTRSNV 11/11 - 1
17-7572101-C-T c.*826G>A - 3-UTRSNV 11/11 - 17
17-7572126-C-CA c.*800dup - 3-UTRInsertion 11/11 - 1
17-7572130-G-T c.*797C>A - 3-UTRSNV 11/11 - 1
17-7572132-G-A c.*795C>T - 3-UTRSNV 11/11 - 1
17-7572134-G-C c.*793C>G - 3-UTRSNV 11/11 - 1
17-7572145-A-G c.*782T>C - 3-UTRSNV 11/11 - 1
17-7572154-G-A c.*773C>T - 3-UTRSNV 11/11 - 2
17-7572155-A-G c.*772T>C - 3-UTRSNV 11/11 - 1
17-7572163-A-C c.*764T>G - 3-UTRSNV 11/11 - 1
17-7572167-A-G c.*760T>C - 3-UTRSNV 11/11 - 1
17-7572168-A-G c.*759T>C - 3-UTRSNV 11/11 - 1
17-7572154-GAAA-G c.*770_*772del - 3-UTRDeletion 11/11 - 1
17-7572154-GAA-G c.*771_*772del - 3-UTRDeletion 11/11 - 1
17-7572173-G-A c.*754C>T - 3-UTRSNV 11/11 - 1
17-7572249-C-T c.*678G>A - 3-UTRSNV 11/11 - 1
17-7572262-G-A c.*665C>T - 3-UTRSNV 11/11 - 1
17-7572279-T-C c.*648A>G - 3-UTRSNV 11/11 - 1
17-7572293-C-G c.*634G>C - 3-UTRSNV 11/11 - 1
17-7572298-A-G c.*629T>C - 3-UTRSNV 11/11 - 1
17-7572314-G-C c.*613C>G - 3-UTRSNV 11/11 - 3
17-7572314-G-T c.*613C>A - 3-UTRSNV 11/11 - 3
17-7572318-T-G c.*609A>C - 3-UTRSNV 11/11 - 1
17-7572386-C-A c.*541G>T - 3-UTRSNV 11/11 - 1
17-7572386-C-T c.*541G>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
17-7572398-C-G c.*529G>C - 3-UTRSNV 11/11 - 1
17-7572413-A-G c.*514T>C - 3-UTRSNV 11/11 - 2
17-7572430-C-A c.*497G>T - 3-UTRSNV 11/11 - 1
17-7572436-C-T c.*491G>A - 3-UTRSNV 11/11 - 2
17-7572439-G-T c.*488C>A - 3-UTRSNV 11/11 - 1
17-7572442-C-T c.*485G>A - 3-UTRSNV 11/11 - 15
17-7572487-A-C c.*440T>G - 3-UTRSNV 11/11 - 1
17-7572494-C-T c.*433G>A - 3-UTRSNV 11/11 - 1
17-7572518-G-T c.*409C>A - 3-UTRSNV 11/11 - 1
17-7572599-C-T c.*328G>A - 3-UTRSNV 11/11 - 4
17-7572613-C-T c.*314G>A - 3-UTRSNV 11/11 - 2
17-7572618-C-A c.*309G>T - 3-UTRSNV 11/11 - 1
17-7572660-C-T c.*267G>A - 3-UTRSNV 11/11 - 1
17-7572665-C-G c.*262G>C - 3-UTRSNV 11/11 - 1
17-7572687-C-A c.*240G>T - 3-UTRSNV 11/11 - 1
17-7572689-C-G c.*238G>C - 3-UTRSNV 11/11 - 1
17-7572722-C-T c.*205G>A - 3-UTRSNV 11/11 - 4
17-7572807-C-G c.*120G>C - 3-UTRSNV 11/11 - 1
17-7572822-G-A c.*105C>T - 3-UTRSNV 11/11 - 1
17-7572833-G-A c.*94C>T - 3-UTRSNV 11/11 - 1
17-7572841-G-C c.*86C>G - 3-UTRSNV 11/11 - 1
17-7572882-G-C c.*45C>G - 3-UTRSNV 11/11 - 1
17-7572885-G-C c.*42C>G - 3-UTRSNV 11/11 - 1
17-7572889-G-A c.*38C>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
17-7572893-G-A c.*34C>T - 3-UTRSNV 11/11 - 1
17-7572895-G-A c.*32C>T - 3-UTRSNV 11/11 - 1
17-7572896-G-A c.*31C>T - 3-UTRSNV 11/11 - 1
17-7572897-C-A c.*30G>T - 3-UTRSNV 11/11 - 1
17-7572906-G-A c.*21C>T - 3-UTRSNV 11/11 - 1
17-7572912-A-G c.*15T>C - 3-UTRSNV 11/11 - 1
17-7572917-G-GTGGA c.*6_*9dup - 3-UTRInsertion 11/11 - 1
17-7572918-T-G c.*9A>C - 3-UTRSNV 11/11 - 2
17-7572921-A-G c.*6T>C - 3-UTRSNV 11/11 - 1
17-7572921-A-T c.*6T>A - 3-UTRSNV 11/11 - 1
17-7572927-GTCAGTCTGAGTCAGGCCCTTCTGTCTTGAACATGAGTTTTTTATGGCGGGAGGTAGACT-G c.1124_1182del p.Q375Pfs*76 Multi:SpliceAcceptorDeletion,CdsStopDeletion 11/11 - 9
17-7572928-C-T c.1181G>A p.*394= Synonymous 11/11 - 2
17-7572928-TC-T c.1181del p.*394Yfs*28 CdsStopDeletion 11/11 - 2
17-7572929-A-C c.1180T>G p.*394Gext*9 Missense 11/11 - 3
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 - 2
17-7572929-CAGTCTGA-C c.1174_1180del p.S392Dfs*28 Frameshift 11/11 - 1
17-7572930-G-A c.1179C>T p.D393= Synonymous 11/11 - 3
17-7572930-G-C c.1179C>G p.D393E Missense 11/11 - 1
17-7572931-GTCTGAGTC-G c.1171_1178del p.D391Lfs*77 Frameshift 11/11 - 2
17-7572931-T-A c.1178A>T p.D393V Missense 11/11 - 1
17-7572931-T-TC c.1177dup p.D393Gfs*78 Frameshift 11/11 - 1
17-7572932-C-A c.1177G>T p.D393Y Missense 11/11 - 2
17-7572932-C-G c.1177G>C p.D393H Missense 11/11 - 1
17-7572932-C-T c.1177G>A p.D393N Missense 11/11 - 7
17-7572932-TC-T c.1177del p.D393Tfs*29 Frameshift 11/11 - 2
17-7572932-C-CT c.1176dup p.D393Rfs*78 Frameshift 11/11 - 4
17-7572933-CT-C c.1176del p.D393Tfs*29 Frameshift 11/11 - 2
17-7572933-TG-AA c.1175_1176delinsTT p.S392F Missense 11/11 - 1
17-7572933-TG-AC c.1175_1176delinsGT p.S392C Missense 11/11 - 1
17-7572933-TGA-GTC c.1174_1176delinsGAC p.S392D Missense 11/11 - 4
17-7572934-G-A c.1175C>T p.S392L Missense 11/11 - 11
17-7572934-GA-AT c.1174_1175delinsAT p.S392I Missense 11/11 - 1
17-7572934-GA-TC c.1174_1175inv p.S392E Missense 11/11 - 11
17-7572934-G-C c.1175C>G p.S392* Nonsense 11/11 - 3
17-7572934-G-T c.1175C>A p.S392* Nonsense 11/11 - 7
17-7572933-TGA-T c.1174_1175del p.S392Rfs*78 Frameshift 11/11 - 2
17-7572935-A-C c.1174T>G p.S392A Missense 11/11 - 37
17-7572935-A-G c.1174T>C p.S392P Missense 11/11 - 9
17-7572935-A-T c.1174T>A p.S392T Missense 11/11 - 1
17-7572935-GA-G c.1174del p.S392Qfs*30 Frameshift 11/11 - 1
17-7572936-G-C c.1173C>G p.D391E Missense 11/11 - 3
17-7572936-G-T c.1173C>A p.D391E Missense 11/11 - 1
17-7572937-T-A c.1172A>T p.D391V Missense 11/11 - 1
17-7572937-T-C c.1172A>G p.D391G Missense 11/11 - 2
17-7572937-T-G c.1172A>C p.D391A Missense 11/11 - 4
17-7572938-C-A c.1171G>T p.D391Y Missense 11/11 - 5
17-7572938-C-G c.1171G>C p.D391H Missense 11/11 - 1
17-7572938-C-T c.1171G>A p.D391N Missense 11/11 - 10
17-7572938-TC-T c.1171del p.D391Tfs*31 Frameshift 11/11 - 2
17-7572939-A-C c.1170T>G p.P390= Synonymous 11/11 - 2
17-7572939-A-G c.1170T>C p.P390= Synonymous 11/11 - 2
17-7572939-A-T c.1170T>A p.P390= Synonymous 11/11 - 2
17-7572939-CA-C c.1170del p.D391Tfs*31 Frameshift 11/11 - 2
17-7572940-G-A c.1169C>T p.P390L Missense 11/11 - 3
17-7572940-G-C c.1169C>G p.P390R Missense 11/11 - 1
17-7572940-G-T c.1169C>A p.P390H Missense 11/11 - 5
17-7572939-AG-A c.1169del p.P390Lfs*32 Frameshift 11/11 - 4
17-7572941-G-A c.1168C>T p.P390S Missense 11/11 - 4
17-7572941-G-C c.1168C>G p.P390A Missense 11/11 - 1
17-7572941-G-T c.1168C>A p.P390T Missense 11/11 - 4
17-7572942-C-A c.1167G>T p.G389= Synonymous 11/11 - 6
17-7572942-C-G c.1167G>C p.G389= Synonymous 11/11 - 4
17-7572942-C-T c.1167G>A p.G389= Synonymous 11/11 - 5
17-7572943-C-A c.1166G>T p.G389V Missense 11/11 - 5
17-7572943-CCCTTCTG-C c.1160_1166del p.T387Sfs*33 Frameshift 11/11 - 1
17-7572943-C-G c.1166G>C p.G389A Missense 11/11 - 2
17-7572943-C-T c.1166G>A p.G389E Missense 11/11 - 16
17-7572941-GC-G c.1167del p.P390Lfs*32 Frameshift 11/11 - 5
17-7572941-G-GC c.1167dup p.P390Afs*2 Frameshift 11/11 - 1
17-7572944-C-A c.1165G>T p.G389W Missense 11/11 - 20
17-7572944-C-G c.1165G>C p.G389R Missense 11/11 - 4
17-7572944-C-T c.1165G>A p.G389R Missense 11/11 - 13
17-7572945-T-A c.1164A>T p.E388D Missense 11/11 - 3
17-7572945-T-C c.1164A>G p.E388= Synonymous 11/11 - 1
17-7572945-T-G c.1164A>C p.E388D Missense 11/11 - 2
17-7572946-T-A c.1163A>T p.E388V Missense 11/11 - 3
17-7572946-T-C c.1163A>G p.E388G Missense 11/11 - 2
17-7572946-T-G c.1163A>C p.E388A Missense 11/11 - 14
17-7572946-T-TA c.1162_1163insT p.E388Vfs*4 Frameshift 11/11 - 1
17-7572947-C-G c.1162G>C p.E388Q Missense 11/11 - 4
17-7572947-C-T c.1162G>A p.E388K Missense 11/11 - 6
17-7572948-T-A c.1161A>T p.T387= Synonymous 11/11 - 1
17-7572948-T-C c.1161A>G p.T387= Synonymous 11/11 - 3
17-7572948-T-G c.1161A>C p.T387= Synonymous 11/11 - 1
17-7572948-TG-CA c.1160_1161inv p.T387M Missense 11/11 - 1
17-7572948-TG-GT c.1160_1161delinsAC p.T387N Missense 11/11 - 1
17-7572948-T-TTGTCTTGAACA c.1160_1161insTGTTCAAGACA p.E388Vfs*38 Frameshift 11/11 - 1
17-7572949-G-A c.1160C>T p.T387I Missense 11/11 - 5
17-7572949-G-C c.1160C>G p.T387R Missense 11/11 - 7
17-7572949-G-T c.1160C>A p.T387K Missense 11/11 - 1
17-7572949-TG-T c.1160del p.T387Kfs*35 Frameshift 11/11 - 1
17-7572949-TGTCTTGAACATGAGTTTTTTATGGCGGGAGGTAGACTGACCCTTTTTGGACTTCAGGTG-T c.1102_1160del p.H368Rfs*4 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/11 - 2
17-7572950-T-A c.1159A>T p.T387S Missense 11/11 - 4
17-7572950-T-C c.1159A>G p.T387A Missense 11/11 - 5
17-7572950-T-G c.1159A>C p.T387P Missense 11/11 - 1
17-7572951-C-A c.1158G>T p.K386N Missense 11/11 - 5
17-7572951-C-G c.1158G>C p.K386N Missense 11/11 - 7
17-7572951-C-T c.1158G>A p.K386= Synonymous 11/11 - 1
17-7572952-T-A c.1157A>T p.K386M Missense 11/11 - 3
17-7572952-T-C c.1157A>G p.K386R Missense 11/11 - 44
17-7572952-T-G c.1157A>C p.K386T Missense 11/11 - 1
17-7572952-TT-GC c.1156_1157delinsGC p.K386A Missense 11/11 - 1
17-7572951-C-CT c.1157dup p.T387Dfs*5 Frameshift 11/11 - 1
17-7572953-T-C c.1156A>G p.K386E Missense 11/11 - 1
17-7572953-T-G c.1156A>C p.K386Q Missense 11/11 - 1
17-7572953-T-TG c.1155dup p.K386Qfs*6 Frameshift 11/11 - 1
17-7572954-G-A c.1155C>T p.F385= Synonymous 11/11 - 2
17-7572955-AA-GC c.1153_1154delinsGC p.F385A Missense 11/11 - 3
17-7572955-A-C c.1154T>G p.F385C Missense 11/11 - 1
17-7572955-A-G c.1154T>C p.F385S Missense 11/11 - 2
17-7572955-A-T c.1154T>A p.F385Y Missense 11/11 - 5
17-7572954-GA-G c.1154del p.F385Sfs*37 Frameshift 11/11 - 2
17-7572954-G-C c.1155C>G p.F385L Missense 11/11 - 5
17-7572954-G-T c.1155C>A p.F385L Missense 11/11 - 6
17-7572956-A-C c.1153T>G p.F385V Missense 11/11 - 4
17-7572956-A-G c.1153T>C p.F385L Missense 11/11 - 9
17-7572956-A-T c.1153T>A p.F385I Missense 11/11 - 1
17-7572957-C-A c.1152G>T p.M384I Missense 11/11 - 4
17-7572957-C-G c.1152G>C p.M384I Missense 11/11 - 5
17-7572957-C-T c.1152G>A p.M384I Missense 11/11 - 6
17-7572958-A-C c.1151T>G p.M384R Missense 11/11 - 6
17-7572958-A-G c.1151T>C p.M384T Missense 11/11 - 10
17-7572958-A-T c.1151T>A p.M384K Missense 11/11 - 2
17-7572958-CA-C c.1151del p.M384Sfs*38 Frameshift 11/11 - 1
17-7572959-AT-A c.1150del p.M384Cfs*38 Frameshift 11/11 - 1
17-7572959-T-A c.1150A>T p.M384L Missense 11/11 - 1
17-7572959-T-C c.1150A>G p.M384V Missense 11/11 - 9
17-7572960-G-A c.1149C>T p.L383= Synonymous 11/11 - 11
17-7572960-G-C c.1149C>G p.L383= Synonymous 11/11 - 1
17-7572960-G-T c.1149C>A p.L383= Synonymous 11/11 - 7
17-7572961-A-C c.1148T>G p.L383R Missense 11/11 - 1
17-7572961-A-G c.1148T>C p.L383P Missense 11/11 - 1
17-7572961-AG-GC c.1147_1148delinsGC p.L383A Missense 11/11 - 4
17-7572961-A-T c.1148T>A p.L383H Missense 11/11 - 3
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 - 13
17-7572962-G-T c.1147C>A p.L383I Missense 11/11 - 1
17-7572959-TGAGTTTTTTATGGCGG-T c.1134_1149del p.R379Cfs*38 Frameshift 11/11 - 1
17-7572963-T-A c.1146A>T p.K382N Missense 11/11 - 2
17-7572963-T-C c.1146A>G p.K382= Synonymous 11/11 - 5
17-7572963-T-G c.1146A>C p.K382N Missense 11/11 - 3
17-7572964-T-A c.1145A>T p.K382I Missense 11/11 - 1
17-7572964-T-C c.1145A>G p.K382R Missense 11/11 - 38
17-7572964-T-G c.1145A>C p.K382T Missense 11/11 - 4
17-7572964-TT-GC c.1144_1145delinsGC p.K382A Missense 11/11 - 5
17-7572964-TT-GG c.1144_1145delinsCC p.K382P Missense 11/11 - 1
17-7572965-T-A c.1144A>T p.K382* Nonsense 11/11 - 4
17-7572965-T-C c.1144A>G p.K382E Missense 11/11 - 1
17-7572965-T-G c.1144A>C p.K382Q Missense 11/11 - 9
17-7572965-T-TA c.1143_1144insT p.K382* Nonsense 11/11 - 12
17-7572966-T-A c.1143A>T p.K381N Missense 11/11 - 9
17-7572966-T-G c.1143A>C p.K381N Missense 11/11 - 3
17-7572967-T-A c.1142A>T p.K381I Missense 11/11 - 1
17-7572967-T-C c.1142A>G p.K381R Missense 11/11 - 14
17-7572967-T-G c.1142A>C p.K381T Missense 11/11 - 3
17-7572967-TT-GC c.1141_1142delinsGC p.K381A Missense 11/11 - 6
17-7572962-G-GT c.1146dup p.L383Tfs*9 Frameshift 11/11 - 2
17-7572962-GT-G c.1146del p.K382Nfs*40 Frameshift 11/11 - 41
17-7572968-T-C c.1141A>G p.K381E Missense 11/11 - 5
17-7572968-T-G c.1141A>C p.K381Q Missense 11/11 - 4
17-7572968-T-TA c.1140dup p.K381* Nonsense 11/11 - 1
17-7572969-A-C c.1140T>G p.H380Q Missense 11/11 - 3
17-7572969-A-G c.1140T>C p.H380= Synonymous 11/11 - 1
17-7572969-A-T c.1140T>A p.H380Q Missense 11/11 - 2
17-7572969-ATG-CCA c.1138_1140delinsTGG p.H380W Missense 11/11 - 1
17-7572969-TA-T c.1140del p.H380Qfs*42 Frameshift 11/11 - 2
17-7572969-TATGGCGGGAGGTAGAC-T c.1125_1140del p.S376Kfs*41 Frameshift 11/11 - 1
17-7572970-AT-A c.1139del p.H380Lfs*42 Frameshift 11/11 - 2
17-7572970-ATGGCGGGAGGTAGACTGACCCTTTTTGGACTTCAGGTGGCTGTAGGAGACAGAAGCAGG-A c.1101-20_1139del - SpliceAcceptorDeletion 11/11 10/10 1
17-7572970-T-A c.1139A>T p.H380L Missense 11/11 - 2
17-7572970-T-C c.1139A>G p.H380R Missense 11/11 - 3
17-7572970-T-G c.1139A>C p.H380P Missense 11/11 - 1
17-7572971-G-A c.1138C>T p.H380Y Missense 11/11 - 3
17-7572971-G-C c.1138C>G p.H380D Missense 11/11 - 2
17-7572971-G-T c.1138C>A p.H380N Missense 11/11 - 2
17-7572970-TG-T c.1138del p.H380Ifs*42 Frameshift 11/11 - 1
17-7572972-G-A c.1137C>T p.R379= Synonymous 11/11 - 5
17-7572972-G-C c.1137C>G p.R379= Synonymous 11/11 - 2
17-7572972-GCG-CCA c.1135_1137delinsTGG p.R379W Missense 11/11 - 2
17-7572972-GCG-CTT c.1135_1137delinsAAG p.R379K Missense 11/11 - 1
17-7572972-GC-TT c.1136_1137delinsAA p.R379Q Missense 11/11 - 1
17-7572972-G-T c.1137C>A p.R379= Synonymous 11/11 - 2
17-7572973-C-A c.1136G>T p.R379L Missense 11/11 - 9
17-7572973-C-CT c.1135_1136insA p.R379Qfs*3 Frameshift 11/11 - 1
17-7572973-C-G c.1136G>C p.R379P Missense 11/11 - 7
17-7572973-CG-AT c.1135_1136delinsAT p.R379I Missense 11/11 - 1
17-7572973-CG-GC c.1135_1136delinsGC p.R379A Missense 11/11 - 2
17-7572973-C-T c.1136G>A p.R379H Missense 11/11 - 25
17-7572973-GC-G c.1136del p.R379Pfs*43 Frameshift 11/11 - 1
17-7572974-G-A c.1135C>T p.R379C Missense 11/11 - 20
17-7572974-G-C c.1135C>G p.R379G Missense 11/11 - 1
17-7572974-G-T c.1135C>A p.R379S Missense 11/11 - 8
17-7572975-G-A c.1134C>T p.S378= Synonymous 11/11 - 4
17-7572975-G-C c.1134C>G p.S378= Synonymous 11/11 - 1
17-7572975-GGA-CTC c.1132_1134delinsGAG p.S378E Missense 11/11 - 2
17-7572975-G-T c.1134C>A p.S378= Synonymous 11/11 - 1
17-7572973-C-CG c.1135dup p.R379Pfs*3 Frameshift 11/11 - 2
17-7572973-CG-C c.1135del p.R379Afs*43 Frameshift 11/11 - 3
17-7572976-G-A c.1133C>T p.S378F Missense 11/11 - 6
17-7572976-GA-TC c.1132_1133inv p.S378D Missense 11/11 - 1
17-7572976-G-C c.1133C>G p.S378C Missense 11/11 - 4
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 - 10
17-7572977-A-G c.1132T>C p.S378P Missense 11/11 - 13
17-7572978-G-A c.1131C>T p.T377= Synonymous 11/11 - 2
17-7572978-G-C c.1131C>G p.T377= Synonymous 11/11 - 1
17-7572978-G-T c.1131C>A p.T377= Synonymous 11/11 - 3
17-7572977-AG-A c.1131del p.S378Pfs*44 Frameshift 11/11 - 1
17-7572979-G-A c.1130C>T p.T377I Missense 11/11 - 4
17-7572979-G-C c.1130C>G p.T377S Missense 11/11 - 2
17-7572979-GGT-G c.1129_1130del p.T377Lfs*4 Frameshift 11/11 - 1
17-7572979-G-T c.1130C>A p.T377N Missense 11/11 - 2
17-7572980-GT-G c.1129del p.T377Pfs*45 Frameshift 11/11 - 1
17-7572980-T-A c.1129A>T p.T377S Missense 11/11 - 4
17-7572980-T-C c.1129A>G p.T377A Missense 11/11 - 14
17-7572980-T-G c.1129A>C p.T377P Missense 11/11 - 24
17-7572981-A-C c.1128T>G p.S376= Synonymous 11/11 - 1
17-7572981-A-G c.1128T>C p.S376= Synonymous 11/11 - 1
17-7572981-A-T c.1128T>A p.S376= Synonymous 11/11 - 1
17-7572982-AG-A c.1127del p.S376Lfs*46 Frameshift 11/11 - 1
17-7572982-G-A c.1127C>T p.S376F Missense 11/11 - 12
17-7572982-G-C c.1127C>G p.S376C Missense 11/11 - 12
17-7572982-G-GT c.1126_1127insA p.S376Yfs*6 Frameshift 11/11 - 1
17-7572982-G-T c.1127C>A p.S376Y Missense 11/11 - 6
17-7572983-A-AT c.1125_1126insA p.S376Ifs*6 Frameshift 11/11 - 1
17-7572983-A-C c.1126T>G p.S376A Missense 11/11 - 16
17-7572983-A-G c.1126T>C p.S376P Missense 11/11 - 5
17-7572983-A-T c.1126T>A p.S376T Missense 11/11 - 5
17-7572984-AC-A c.1125del p.Q375Hfs*47 Frameshift 11/11 - 4
17-7572984-C-A c.1125G>T p.Q375H Missense 11/11 - 5
17-7572984-C-G c.1125G>C p.Q375H Missense 11/11 - 5
17-7572984-C-T c.1125G>A p.Q375= Synonymous 11/11 - 2
17-7572981-AGACT-A c.1124_1127del p.Q375Lfs*46 Frameshift 11/11 - 1
17-7572985-T-A c.1124A>T p.Q375L Missense 11/11 - 2
17-7572985-T-C c.1124A>G p.Q375R Missense 11/11 - 8
17-7572985-T-G c.1124A>C p.Q375P Missense 11/11 - 1
17-7572986-G-A c.1123C>T p.Q375* Nonsense 11/11 - 32
17-7572986-G-C c.1123C>G p.Q375E Missense 11/11 - 3
17-7572986-G-T c.1123C>A p.Q375K Missense 11/11 - 19
17-7572986-TG-T c.1123del p.Q375Sfs*47 Frameshift 11/11 - 1
17-7572986-G-GA c.1122dup p.Q375Sfs*7 Frameshift 11/11 - 2
17-7572987-A-C c.1122T>G p.G374= Synonymous 11/11 - 2
17-7572987-ACC-TCA c.1120_1122delinsTGA p.G374* Nonsense 11/11 - 1
17-7572987-A-G c.1122T>C p.G374= Synonymous 11/11 - 2
17-7572987-A-T c.1122T>A p.G374= Synonymous 11/11 - 3
17-7572988-C-A c.1121G>T p.G374V Missense 11/11 - 3
17-7572988-CC-GT c.1120_1121delinsAC p.G374T Missense 11/11 - 1
17-7572988-C-CT c.1120_1121insA p.G374Efs*8 Frameshift 11/11 - 1
17-7572988-CC-TT c.1120_1121delinsAA p.G374N Missense 11/11 - 1
17-7572988-C-G c.1121G>C p.G374A Missense 11/11 - 2
17-7572988-C-T c.1121G>A p.G374D Missense 11/11 - 3
17-7572989-C-A c.1120G>T p.G374C Missense 11/11 - 13
17-7572989-C-G c.1120G>C p.G374R Missense 11/11 - 17
17-7572989-C-T c.1120G>A p.G374S Missense 11/11 - 13
17-7572987-AC-A c.1121del p.G374Vfs*48 Frameshift 11/11 - 8
17-7572990-C-A c.1119G>T p.K373N Missense 11/11 - 5
17-7572990-C-G c.1119G>C p.K373N Missense 11/11 - 3
17-7572990-C-T c.1119G>A p.K373= Synonymous 11/11 - 4
17-7572991-T-A c.1118A>T p.K373M Missense 11/11 - 2
17-7572991-T-C c.1118A>G p.K373R Missense 11/11 - 33
17-7572991-T-G c.1118A>C p.K373T Missense 11/11 - 2
17-7572992-T-A c.1117A>T p.K373* Nonsense 11/11 - 1
17-7572992-T-C c.1117A>G p.K373E Missense 11/11 - 7
17-7572992-T-G c.1117A>C p.K373Q Missense 11/11 - 7
17-7572992-T-TA c.1116_1117insT p.K373* Nonsense 11/11 - 4
17-7572992-TTTTTGGACTTCAGGTGG-T c.1101_1117del p.S367Rfs*9 SpliceAcceptorDeletion 11/11 - 1
17-7572993-T-C c.1116A>G p.K372= Synonymous 11/11 - 1
17-7572994-T-A c.1115A>T p.K372I Missense 11/11 - 1
17-7572994-T-C c.1115A>G p.K372R Missense 11/11 - 20
17-7572994-T-G c.1115A>C p.K372T Missense 11/11 - 6
17-7572990-C-CT c.1118dup p.Q375Sfs*7 Frameshift 11/11 - 1
17-7572990-CT-C c.1118del p.K373Rfs*49 Frameshift 11/11 - 16
17-7572995-T-A c.1114A>T p.K372* UnclassifiedSNV 11/11 - 2
17-7572995-T-C c.1114A>G p.K372E Missense 11/11 - 3
17-7572995-T-G c.1114A>C p.K372Q Missense 11/11 - 2
17-7572995-TGGAC-GTTT c.1110_1114delinsAAAC p.S371Nfs*51 Frameshift 11/11 - 1
17-7572996-G-A c.1113C>T p.S371= Synonymous 11/11 - 4
17-7572996-G-C c.1113C>G p.S371= Synonymous 11/11 - 4
17-7572996-GG-TT c.1112_1113delinsAA p.S371* Nonsense 11/11 - 2
17-7572996-G-T c.1113C>A p.S371= Synonymous 11/11 - 3
17-7572995-TG-T c.1113del p.K373Rfs*49 Frameshift 11/11 - 1
17-7572997-G-A c.1112C>T p.S371F Missense 11/11 - 8
17-7572997-GA-AG c.1111_1112delinsCT p.S371L Missense 11/11 - 4
17-7572997-GA-CG c.1111_1112delinsCG p.S371R Missense 11/11 - 1
17-7572997-G-GTTATTA c.1111_1112insTAATAA p.S371delinsLIT MultiAAMissense 11/11 - 1
17-7572998-A-C c.1111T>G p.S371A Missense 11/11 - 9
17-7572998-A-G c.1111T>C p.S371P Missense 11/11 - 7
17-7572998-A-T c.1111T>A p.S371T Missense 11/11 - 1
17-7572998-GA-G c.1111del p.S371Pfs*51 Frameshift 11/11 - 3
17-7572998-A-ACCCGGCC c.1110_1111insGGCCGGG p.S371Gfs*13 Frameshift 11/11 - 1
17-7572999-C-A c.1110G>T p.K370N Missense 11/11 - 2
17-7572999-C-G c.1110G>C p.K370N Missense 11/11 - 2
17-7572999-C-T c.1110G>A p.K370= Synonymous 11/11 - 3
17-7572999-CTT-ACA c.1108_1110delinsTGT p.K370C Missense 11/11 - 1
17-7572999-CTT-ATA c.1108_1110delinsTAT p.K370Y Missense 11/11 - 1
17-7573000-T-A c.1109A>T p.K370M Missense 11/11 - 2
17-7573000-T-C c.1109A>G p.K370R Missense 11/11 - 26
17-7573000-T-G c.1109A>C p.K370T Missense 11/11 - 1
17-7573000-TT-GC c.1108_1109delinsGC p.K370A Missense 11/11 - 4
17-7572999-C-CT c.1109dup p.S371Vfs*11 Frameshift 11/11 - 1
17-7573001-T-C c.1108A>G p.K370E Missense 11/11 - 4
17-7573001-T-G c.1108A>C p.K370Q Missense 11/11 - 9
17-7573001-T-TA c.1107_1108insT p.K370* Nonsense 11/11 - 1
17-7573002-C-A c.1107G>T p.L369= Synonymous 11/11 - 1
17-7573002-C-G c.1107G>C p.L369= Synonymous 11/11 - 2
17-7573002-C-T c.1107G>A p.L369= Synonymous 11/11 - 2
17-7573002-C-CA c.1106dup p.K370Efs*12 Frameshift 11/11 - 1
17-7573003-A-C c.1106T>G p.L369R Missense 11/11 - 2
17-7573003-A-G c.1106T>C p.L369P Missense 11/11 - 5
17-7573003-AG-GA c.1105_1106delinsTC p.L369S Missense 11/11 - 1
17-7573003-AG-TA c.1105_1106delinsTA p.L369* Nonsense 11/11 - 1
17-7573003-A-T c.1106T>A p.L369Q Missense 11/11 - 2
17-7573003-CA-C c.1106del p.L369Rfs*53 Frameshift 11/11 - 1
17-7573004-G-A c.1105C>T p.L369= Synonymous 11/11 - 3
17-7573004-G-C c.1105C>G p.L369V Missense 11/11 - 1
17-7573004-G-T c.1105C>A p.L369M Missense 11/11 - 3
17-7573003-AG-A c.1105del p.L369* Frameshift 11/11 - 1
17-7573005-G-A c.1104C>T p.H368= Synonymous 11/11 - 3
17-7573005-G-C c.1104C>G p.H368Q Missense 11/11 - 7
17-7573005-G-T c.1104C>A p.H368Q Missense 11/11 - 5
17-7573006-T-A c.1103A>T p.H368L Missense 11/11 - 3
17-7573006-T-C c.1103A>G p.H368R Missense 11/11 - 1
17-7573006-T-G c.1103A>C p.H368P Missense 11/11 - 4
17-7573007-G-A c.1102C>T p.H368Y Missense 11/11 - 9
17-7573007-G-C c.1102C>G p.H368D Missense 11/11 - 5
17-7573007-G-T c.1102C>A p.H368N Missense 11/11 - 2
17-7573007-TGG-T c.1101_1102del p.S367Rfs*14 SpliceAcceptorDeletion 11/11 - 1
17-7573006-TG-T c.1102del p.H368Tfs*2 Frameshift 11/11 - 1
17-7573008-G-A c.1101C>T p.S367= Synonymous 11/11 - 1
17-7573008-G-C c.1101C>G p.S367R Missense 11/11 - 1
17-7573008-G-T c.1101C>A p.S367R Missense 11/11 - 1
17-7573928-T-G c.1099A>C p.S367R Missense 10/11 - 1
17-7573010-T-C c.1101-2A>G - IntronicSNV - 10/10 5
17-7573011-G-A c.1101-3C>T - IntronicSNV - 10/10 1
17-7573019-C-T c.1101-11G>A - IntronicSNV - 10/10 1
17-7573032-G-A c.1101-24C>T - IntronicSNV - 10/10 1
17-7573034-G-A c.1101-26C>T - IntronicSNV - 10/10 1
17-7573034-G-T c.1101-26C>A - IntronicSNV - 10/10 1
17-7573051-G-A c.1101-43C>T - IntronicSNV - 10/10 1
17-7573057-G-A c.1101-49C>T - IntronicSNV - 10/10 13
17-7573059-G-A c.1101-51C>T - IntronicSNV - 10/10 1
17-7573066-C-T c.1101-58G>A - IntronicSNV - 10/10 1
17-7573081-C-G c.1101-73G>C - IntronicSNV - 10/10 6
17-7573085-G-A c.1101-77C>T - IntronicSNV - 10/10 2
17-7573096-C-T c.1101-88G>A - IntronicSNV - 10/10 1
17-7573112-C-T c.1101-104G>A - IntronicSNV - 10/10 1
17-7573113-G-A c.1101-105C>T - IntronicSNV - 10/10 1
17-7573143-C-G c.1101-135G>C - IntronicSNV - 10/10 1
17-7573168-C-T c.1101-160G>A - IntronicSNV - 10/10 1
17-7573194-C-T c.1101-186G>A - IntronicSNV - 10/10 1
17-7573195-G-A c.1101-187C>T - IntronicSNV - 10/10 1
17-7573208-A-G c.1101-200T>C - IntronicSNV - 10/10 1
17-7573209-C-T c.1101-201G>A - IntronicSNV - 10/10 1
17-7573211-C-T c.1101-203G>A - IntronicSNV - 10/10 1
17-7573221-T-G c.1101-213A>C - IntronicSNV - 10/10 1
17-7573222-T-C c.1101-214A>G - IntronicSNV - 10/10 1
17-7573229-C-T c.1101-221G>A - IntronicSNV - 10/10 6
17-7573241-G-A c.1101-233C>T - IntronicSNV - 10/10 1
17-7573253-T-C c.1101-245A>G - IntronicSNV - 10/10 1
17-7573255-G-C c.1101-247C>G - IntronicSNV - 10/10 1
17-7573276-T-C c.1101-268A>G - IntronicSNV - 10/10 1
17-7573295-C-T c.1101-287G>A - IntronicSNV - 10/10 1
17-7573296-G-A c.1101-288C>T - IntronicSNV - 10/10 1
17-7573312-G-A c.1101-304C>T - IntronicSNV - 10/10 1
17-7573323-A-C c.1101-315T>G - IntronicSNV - 10/10 1
17-7573332-C-A c.1101-324G>T - IntronicSNV - 10/10 1
17-7573332-C-T c.1101-324G>A - IntronicSNV - 10/10 1
17-7573343-C-T c.1101-335G>A - IntronicSNV - 10/10 1
17-7573349-G-A c.1101-341C>T - IntronicSNV - 10/10 1
17-7573364-A-G c.1101-356T>C - IntronicSNV - 10/10 1
17-7573366-G-A c.1101-358C>T - IntronicSNV - 10/10 1
17-7573367-C-A c.1101-359G>T - IntronicSNV - 10/10 1
17-7573367-C-T c.1101-359G>A - IntronicSNV - 10/10 1
17-7573370-G-A c.1101-362C>T - IntronicSNV - 10/10 1
17-7573372-A-G c.1101-364T>C - IntronicSNV - 10/10 1
17-7573373-T-C c.1101-365A>G - IntronicSNV - 10/10 1
17-7573379-C-T c.1101-371G>A - IntronicSNV - 10/10 1
17-7573383-C-T c.1101-375G>A - IntronicSNV - 10/10 2
17-7573384-G-A c.1101-376C>T - IntronicSNV - 10/10 1
17-7573437-G-A c.1101-429C>T - IntronicSNV - 10/10 1
17-7573449-C-A c.1101-441G>T - IntronicSNV - 10/10 1
17-7573449-C-G c.1101-441G>C - IntronicSNV - 10/10 1
17-7573449-C-T c.1101-441G>A - IntronicSNV - 10/10 1
17-7573450-G-A c.1101-442C>T - IntronicSNV - 10/10 1
17-7573468-C-T c.1100+459G>A - IntronicSNV - 10/10 1
17-7573469-G-A c.1100+458C>T - IntronicSNV - 10/10 1
17-7573495-C-A c.1100+432G>T - IntronicSNV - 10/10 1
17-7573495-C-T c.1100+432G>A - IntronicSNV - 10/10 1
17-7573496-G-A c.1100+431C>T - IntronicSNV - 10/10 1
17-7573507-C-T c.1100+420G>A - IntronicSNV - 10/10 1
17-7573511-C-T c.1100+416G>A - IntronicSNV - 10/10 1
17-7573512-G-A c.1100+415C>T - IntronicSNV - 10/10 1
17-7573517-C-T c.1100+410G>A - IntronicSNV - 10/10 2
17-7573533-A-G c.1100+394T>C - IntronicSNV - 10/10 1
17-7573541-A-C c.1100+386T>G - IntronicSNV - 10/10 1
17-7573567-G-A c.1100+360C>T - IntronicSNV - 10/10 1
17-7573567-G-C c.1100+360C>G - IntronicSNV - 10/10 1
17-7573573-G-A c.1100+354C>T - IntronicSNV - 10/10 1
17-7573596-A-G c.1100+331T>C - IntronicSNV - 10/10 1
17-7573629-A-G c.1100+298T>C - IntronicSNV - 10/10 1
17-7573629-A-T c.1100+298T>A - IntronicSNV - 10/10 1
17-7573649-C-T c.1100+278G>A - IntronicSNV - 10/10 1
17-7573651-TTGAGACCCTCCAGCTCTGGGCTGGGAGTTGCGGAGAATGGCAAAGAAGTATCCACACTC-T c.1100+218_1100+276del - Unclassified - 10/10 1
17-7573674-G-A c.1100+253C>T - IntronicSNV - 10/10 1
17-7573682-G-A c.1100+245C>T - IntronicSNV - 10/10 1
17-7573688-T-C c.1100+239A>G - IntronicSNV - 10/10 1
17-7573709-C-T c.1100+218G>A - IntronicSNV - 10/10 1
17-7573710-G-A c.1100+217C>T - IntronicSNV - 10/10 1
17-7573710-G-T c.1100+217C>A - IntronicSNV - 10/10 1
17-7573726-G-A c.1100+201C>T - IntronicSNV - 10/10 1
17-7573729-C-T c.1100+198G>A - IntronicSNV - 10/10 1
17-7573739-A-T c.1100+188T>A - IntronicSNV - 10/10 1
17-7573752-T-C c.1100+175A>G - IntronicSNV - 10/10 1
17-7573753-G-A c.1100+174C>T - IntronicSNV - 10/10 1
17-7573763-G-A c.1100+164C>T - IntronicSNV - 10/10 1
17-7573771-C-T c.1100+156G>A - IntronicSNV - 10/10 1
17-7573773-G-C c.1100+154C>G - IntronicSNV - 10/10 1
17-7573795-G-A c.1100+132C>T - IntronicSNV - 10/10 1
17-7573803-C-T c.1100+124G>A - IntronicSNV - 10/10 1
17-7573809-C-G c.1100+118G>C - IntronicSNV - 10/10 1
17-7573809-C-T c.1100+118G>A - IntronicSNV - 10/10 1
17-7573813-A-G c.1100+114T>C - IntronicSNV - 10/10 1
17-7573817-G-GA c.1100+109dup - IntronicInsertion - 10/10 1
17-7573824-T-C c.1100+103A>G - IntronicSNV - 10/10 1
17-7573851-A-T c.1100+76T>A - IntronicSNV - 10/10 1
17-7573868-T-A c.1100+59A>T - IntronicSNV - 10/10 1
17-7573883-G-A c.1100+44C>T - IntronicSNV - 10/10 1
17-7573887-G-C c.1100+40C>G - IntronicSNV - 10/10 1
17-7573897-T-A c.1100+30A>T - IntronicSNV - 10/10 14
17-7573897-T-C c.1100+30A>G - IntronicSNV - 10/10 11
17-7573897-T-G c.1100+30A>C - IntronicSNV - 10/10 11
17-7573901-G-A c.1100+26C>T - IntronicSNV - 10/10 1
17-7573902-C-T c.1100+25G>A - IntronicSNV - 10/10 1
17-7573904-A-G c.1100+23T>C - IntronicSNV - 10/10 1
17-7573907-GAAGGGGC-G c.1100+14_1100+20del - IntronicDeletion - 10/10 1
17-7573911-G-A c.1100+16C>T - IntronicSNV - 10/10 1
17-7573912-G-A c.1100+15C>T - IntronicSNV - 10/10 1
17-7573914-T-C c.1100+13A>G - IntronicSNV - 10/10 2
17-7573917-G-A c.1100+10C>T - IntronicSNV - 10/10 2
17-7573917-G-T c.1100+10C>A - IntronicSNV - 10/10 2
17-7573918-G-T c.1100+9C>A - IntronicSNV - 10/10 1
17-7573919-T-C c.1100+8A>G - IntronicSNV - 10/10 2
17-7573920-C-T c.1100+7G>A - IntronicSNV - 10/10 3
17-7573921-A-G c.1100+6T>C - IntronicSNV - 10/10 1
17-7573923-CT-C c.1100+4del - IntronicDeletion - 10/10 1
17-7573924-C-G c.1100+3G>C - IntronicSNV - 10/10 1
17-7573925-A-G c.1100+2T>C - IntronicSNV - 10/10 2
17-7573926-C-T c.1100+1G>A - IntronicSNV - 10/10 5
17-7573927-C-A c.1100G>T p.S367I Missense 10/11 - 1
17-7573927-C-G c.1100G>C p.S367T Missense 10/11 - 1
17-7573927-C-T c.1100G>A p.S367N Missense 10/11 - 6
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 - 3
17-7573928-CT-C c.1099del p.S367Afs*3 Frameshift 10/11 - 1
17-7573928-T-A c.1099A>T p.S367C Missense 10/11 - 3
17-7573928-T-C c.1099A>G p.S367G Missense 10/11 - 5
17-7573929-G-A c.1098C>T p.S366= Synonymous 10/11 - 1
17-7573929-GGA-CTC c.1096_1098delinsGAG p.S366E Missense 10/11 - 1
17-7573929-TGGAGTG-T c.1093_1098del p.H365_S366del InFrameDeletion 10/11 - 1
17-7573928-TG-T c.1098del p.S367Afs*3 Frameshift 10/11 - 1
17-7573930-G-A c.1097C>T p.S366F Missense 10/11 - 4
17-7573930-GA-CG c.1096_1097delinsCG p.S366R Missense 10/11 - 1
17-7573930-G-C c.1097C>G p.S366C Missense 10/11 - 2
17-7573930-G-T c.1097C>A p.S366Y Missense 10/11 - 4
17-7573931-A-C c.1096T>G p.S366A Missense 10/11 - 47
17-7573931-A-G c.1096T>C p.S366P Missense 10/11 - 11
17-7573931-A-T c.1096T>A p.S366T Missense 10/11 - 1
17-7573932-AG-A c.1095del p.S366Pfs*4 Frameshift 10/11 - 1
17-7573933-T-A c.1094A>T p.H365L Missense 10/11 - 1
17-7573933-T-C c.1094A>G p.H365R Missense 10/11 - 7
17-7573933-T-G c.1094A>C p.H365P Missense 10/11 - 1
17-7573934-G-A c.1093C>T p.H365Y Missense 10/11 - 24
17-7573934-G-C c.1093C>G p.H365D Missense 10/11 - 2
17-7573934-G-T c.1093C>A p.H365N Missense 10/11 - 2
17-7573935-A-C c.1092T>G p.A364= Synonymous 10/11 - 5
17-7573935-A-G c.1092T>C p.A364= Synonymous 10/11 - 5
17-7573935-A-T c.1092T>A p.A364= Synonymous 10/11 - 5
17-7573935-GA-G c.1092del p.H365Tfs*5 Frameshift 10/11 - 1
17-7573936-G-A c.1091C>T p.A364V Missense 10/11 - 10
17-7573936-G-C c.1091C>G p.A364G Missense 10/11 - 1
17-7573936-G-T c.1091C>A p.A364D Missense 10/11 - 4
17-7573937-C-A c.1090G>T p.A364S Missense 10/11 - 4
17-7573937-C-CTGGTGTCAGTGACTGT c.1089_1090insACAGTCACTGACACCA p.A364Tfs*23 Frameshift 10/11 - 1
17-7573937-C-G c.1090G>C p.A364P Missense 10/11 - 4
17-7573937-C-T c.1090G>A p.A364T Missense 10/11 - 17
17-7573938-CCT-ACA c.1087_1089delinsTGT p.R363C Missense 10/11 - 1
17-7573938-CCT-ATG c.1087_1089delinsCAT p.R363H Missense 10/11 - 2
17-7573936-GC-G c.1090del p.A364Lfs*6 Frameshift 10/11 - 1
17-7573936-G-GC c.1090dup p.A364Gfs*18 Frameshift 10/11 - 1
17-7573939-C-A c.1088G>T p.R363M Missense 10/11 - 2
17-7573939-C-G c.1088G>C p.R363T Missense 10/11 - 2
17-7573939-C-T c.1088G>A p.R363K Missense 10/11 - 16
17-7573939-CT-GC c.1087_1088delinsGC p.R363A Missense 10/11 - 2
17-7573939-CT-TG c.1087_1088delinsCA p.R363Q Missense 10/11 - 5
17-7573940-T-A c.1087A>T p.R363W Missense 10/11 - 2
17-7573940-T-C c.1087A>G p.R363G Missense 10/11 - 8
17-7573941-G-A c.1086C>T p.S362= Synonymous 10/11 - 1
17-7573941-GCT-TCA c.1084_1086delinsTGA p.S362* Nonsense 10/11 - 3
17-7573941-G-T c.1086C>A p.S362R Missense 10/11 - 2
17-7573942-C-A c.1085G>T p.S362I Missense 10/11 - 7
17-7573942-C-G c.1085G>C p.S362T Missense 10/11 - 4
17-7573942-C-T c.1085G>A p.S362N Missense 10/11 - 10
17-7573942-CT-AA c.1084_1085delinsTT p.S362F Missense 10/11 - 1
17-7573942-CT-GC c.1084_1085delinsGC p.S362A Missense 10/11 - 2
17-7573942-CT-TA c.1084_1085delinsTA p.S362Y Missense 10/11 - 1
17-7573942-CT-TC c.1084_1085delinsGA p.S362D Missense 10/11 - 1
17-7573943-CT-C c.1084del p.S362Afs*8 Frameshift 10/11 - 1
17-7573943-T-A c.1084A>T p.S362C Missense 10/11 - 8
17-7573943-T-C c.1084A>G p.S362G Missense 10/11 - 6
17-7573943-T-TA c.1083_1084insT p.S362* Nonsense 10/11 - 1
17-7573944-C-A c.1083G>T p.G361= Synonymous 10/11 - 1
17-7573944-CCC-GCT c.1081_1083delinsAGC p.G361S Missense 10/11 - 1
17-7573944-CC-GT c.1082_1083delinsAC p.G361D Missense 10/11 - 1
17-7573944-C-G c.1083G>C p.G361= Synonymous 10/11 - 1
17-7573944-C-T c.1083G>A p.G361= Synonymous 10/11 - 7
17-7573945-C-A c.1082G>T p.G361V Missense 10/11 - 2
17-7573945-C-G c.1082G>C p.G361A Missense 10/11 - 4
17-7573945-C-T c.1082G>A p.G361E Missense 10/11 - 26
17-7573946-C-A c.1081G>T p.G361W Missense 10/11 - 5
17-7573946-CCCCCTGGCTCCTTCCCAGCCTGGGCATCCTTGAGTTCCA-C c.1043_1081del p.L348_G361delinsW MultiAAMissense 10/11 - 1
17-7573946-C-G c.1081G>C p.G361R Missense 10/11 - 5
17-7573946-C-T c.1081G>A p.G361R Missense 10/11 - 7
17-7573947-CCC-GCT c.1078_1080delinsAGC p.G360S Missense 10/11 - 2
17-7573947-CC-GT c.1079_1080delinsAC p.G360D Missense 10/11 - 2
17-7573948-C-A c.1079G>T p.G360V Missense 10/11 - 33
17-7573948-C-G c.1079G>C p.G360A Missense 10/11 - 34
17-7573948-C-T c.1079G>A p.G360E Missense 10/11 - 15
17-7573943-TC-T c.1083del p.S362Afs*8 Frameshift 10/11 - 10
17-7573943-T-TC c.1083dup p.S362Efs*20 Frameshift 10/11 - 5
17-7573949-C-A c.1078G>T p.G360W Missense 10/11 - 10
17-7573949-C-CCT c.1077_1078insAG p.G360Rfs*11 Frameshift 10/11 - 3
17-7573949-C-G c.1078G>C p.G360R Missense 10/11 - 3
17-7573949-C-T c.1078G>A p.G360R Missense 10/11 - 13
17-7573950-CT-C c.1077del p.S362Afs*8 Frameshift 10/11 - 4
17-7573950-CTGG-C c.1075_1077del p.P359del InFrameDeletion 10/11 - 1
17-7573950-T-A c.1077A>T p.P359= Synonymous 10/11 - 1
17-7573950-T-C c.1077A>G p.P359= Synonymous 10/11 - 6
17-7573950-T-G c.1077A>C p.P359= Synonymous 10/11 - 1
17-7573950-TG-AT c.1076_1077delinsAT p.P359H Missense 10/11 - 1
17-7573951-G-A c.1076C>T p.P359L Missense 10/11 - 7
17-7573951-G-C c.1076C>G p.P359R Missense 10/11 - 3
17-7573951-GG-CC c.1075_1076inv p.P359G Missense 10/11 - 1
17-7573951-G-T c.1076C>A p.P359Q Missense 10/11 - 2
17-7573951-TGGCTCCTTCCCAGCCTGGGCATCCTTGAGTTCCAAGGCCTCATTCAGCTCTCGGA-T c.1022_1076del p.F341* Frameshift 10/11 - 1
17-7573952-G-A c.1075C>T p.P359S Missense 10/11 - 13
17-7573952-G-C c.1075C>G p.P359A Missense 10/11 - 2
17-7573952-G-T c.1075C>A p.P359T Missense 10/11 - 3
17-7573953-C-A c.1074G>T p.E358D Missense 10/11 - 6
17-7573953-C-G c.1074G>C p.E358D Missense 10/11 - 5
17-7573954-T-A c.1073A>T p.E358V Missense 10/11 - 24
17-7573954-T-C c.1073A>G p.E358G Missense 10/11 - 2
17-7573954-T-G c.1073A>C p.E358A Missense 10/11 - 1
17-7573955-C-A c.1072G>T p.E358* Nonsense 10/11 - 1
17-7573955-C-G c.1072G>C p.E358Q Missense 10/11 - 1
17-7573955-C-T c.1072G>A p.E358K Missense 10/11 - 15
17-7573957-T-A c.1070A>T p.K357M Missense 10/11 - 1
17-7573957-T-C c.1070A>G p.K357R Missense 10/11 - 11
17-7573957-T-G c.1070A>C p.K357T Missense 10/11 - 2
17-7573957-TT-GC c.1069_1070delinsGC p.K357A Missense 10/11 - 1
17-7573956-CT-C c.1070del p.K357Rfs*13 Frameshift 10/11 - 2
17-7573958-T-A c.1069A>T p.K357* Nonsense 10/11 - 1
17-7573958-T-C c.1069A>G p.K357E Missense 10/11 - 5
17-7573958-T-G c.1069A>C p.K357Q Missense 10/11 - 2
17-7573959-C-A c.1068G>T p.G356= Synonymous 10/11 - 4
17-7573959-CCC-GCT c.1066_1068delinsAGC p.G356S Missense 10/11 - 3
17-7573959-CC-GT c.1067_1068delinsAC p.G356D Missense 10/11 - 1
17-7573959-C-G c.1068G>C p.G356= Synonymous 10/11 - 2
17-7573959-C-T c.1068G>A p.G356= Synonymous 10/11 - 3
17-7573959-TCCC-T c.1066_1068del p.G356del InFrameDeletion 10/11 - 1
17-7573958-TCCCAGCCTGGGCATCCTTGAGTTC-T c.1045_1068del p.E349_G356del InFrameDeletion 10/11 - 3
17-7573960-C-A c.1067G>T p.G356V Missense 10/11 - 3
17-7573960-CC-GT c.1066_1067delinsAC p.G356T Missense 10/11 - 1
17-7573960-C-G c.1067G>C p.G356A Missense 10/11 - 5
17-7573960-C-T c.1067G>A p.G356E Missense 10/11 - 5
17-7573958-T-TC c.1068dup p.K357Efs*25 Frameshift 10/11 - 1
17-7573961-C-A c.1066G>T p.G356W Missense 10/11 - 12
17-7573961-C-CG c.1065_1066insC p.G356Rfs*26 Frameshift 10/11 - 1
17-7573961-C-G c.1066G>C p.G356R Missense 10/11 - 8
17-7573961-C-T c.1066G>A p.G356R Missense 10/11 - 8
17-7573961-C-CA c.1065dup p.G356Wfs*26 Frameshift 10/11 - 1
17-7573962-A-G c.1065T>C p.A355= Synonymous 10/11 - 3
17-7573962-AGC-CTT c.1063_1065delinsAAG p.A355K Missense 10/11 - 1
17-7573962-CAG-C c.1064_1065del p.A355Gfs*26 Frameshift 10/11 - 1
17-7573963-G-A c.1064C>T p.A355V Missense 10/11 - 3
17-7573963-G-C c.1064C>G p.A355G Missense 10/11 - 1
17-7573963-GC-AA c.1063_1064delinsTT p.A355F Missense 10/11 - 1
17-7573963-G-T c.1064C>A p.A355D Missense 10/11 - 3
17-7573964-C-A c.1063G>T p.A355S Missense 10/11 - 4
17-7573964-C-G c.1063G>C p.A355P Missense 10/11 - 3
17-7573964-C-T c.1063G>A p.A355T Missense 10/11 - 12
17-7573963-GC-G c.1063del p.A355Lfs*15 Frameshift 10/11 - 1
17-7573963-G-GC c.1063dup p.A355Gfs*27 Frameshift 10/11 - 1
17-7573965-C-A c.1062G>T p.Q354H Missense 10/11 - 8
17-7573965-CCTG-C c.1060_1062del p.Q354del InFrameDeletion 10/11 - 1
17-7573965-C-G c.1062G>C p.Q354H Missense 10/11 - 6
17-7573965-C-T c.1062G>A p.Q354= Synonymous 10/11 - 9
17-7573966-T-A c.1061A>T p.Q354L Missense 10/11 - 1
17-7573966-T-C c.1061A>G p.Q354R Missense 10/11 - 14
17-7573966-T-G c.1061A>C p.Q354P Missense 10/11 - 6
17-7573966-TG-GC c.1060_1061delinsGC p.Q354A Missense 10/11 - 1
17-7573965-CTGGGCATCCTTGAGT-C c.1047_1061del p.L350_Q354del InFrameDeletion 10/11 - 2
17-7573967-G-A c.1060C>T p.Q354* Nonsense 10/11 - 19
17-7573967-G-C c.1060C>G p.Q354E Missense 10/11 - 8
17-7573967-G-T c.1060C>A p.Q354K Missense 10/11 - 18
17-7573966-TGGGCATCCTTGAGTTCCAAG-T c.1041_1060del p.L348Gfs*27 Frameshift 10/11 - 4
17-7573968-G-A c.1059C>T p.A353= Synonymous 10/11 - 2
17-7573968-G-C c.1059C>G p.A353= Synonymous 10/11 - 4
17-7573966-TGGGCATCCTTGAGTTCCAAGGCCTCATTCAGCTCTC-T c.1025_1060del p.R342_A353del InFrameDeletion 10/11 - 1
17-7573969-G-A c.1058C>T p.A353V Missense 10/11 - 8
17-7573969-G-C c.1058C>G p.A353G Missense 10/11 - 3
17-7573969-GGCATCCTTGAGTTCCAAGGCCTCATTCAGCTCTCGGA-G c.1022_1058del p.F341Sfs*17 Frameshift 10/11 - 1
17-7573969-G-T c.1058C>A p.A353D Missense 10/11 - 3
17-7573968-GGCATCCTT-G c.1051_1058del p.K351Pfs*28 Frameshift 10/11 - 1
17-7573970-C-A c.1057G>T p.A353S Missense 10/11 - 8
17-7573970-C-G c.1057G>C p.A353P Missense 10/11 - 4
17-7573970-C-T c.1057G>A p.A353T Missense 10/11 - 12
17-7573970-GCA-G c.1056_1057del p.A353Pfs*28 Frameshift 10/11 - 1
17-7573968-GGCATCCTTGAGTTCCAAGGCCTCATTCA-G c.1031_1058del p.L344Pfs*17 Frameshift 10/11 - 1
17-7573969-GCATCCTTGAGTTC-G c.1045_1057del p.E349Pfs*17 Frameshift 10/11 - 4
17-7573972-AT-A c.1055del p.D352Vfs*18 Frameshift 10/11 - 1
17-7573972-T-A c.1055A>T p.D352V Missense 10/11 - 3
17-7573972-T-C c.1055A>G p.D352G Missense 10/11 - 4
17-7573972-TC-CG c.1054_1055delinsCG p.D352R Missense 10/11 - 1
17-7573972-T-G c.1055A>C p.D352A Missense 10/11 - 5
17-7573973-C-A c.1054G>T p.D352Y Missense 10/11 - 15
17-7573973-C-G c.1054G>C p.D352H Missense 10/11 - 3
17-7573973-C-T c.1054G>A p.D352N Missense 10/11 - 13
17-7573971-ATCCTTGAGTTCCAAGGCC-A c.1038_1055del p.E346_K351del InFrameDeletion 10/11 - 1
17-7573974-C-A c.1053G>T p.K351N Missense 10/11 - 30
17-7573974-CCTT-C c.1051_1053del p.K351del InFrameDeletion 10/11 - 1
17-7573974-C-G c.1053G>C p.K351N Missense 10/11 - 28
17-7573974-C-T c.1053G>A p.K351= Synonymous 10/11 - 2
17-7573974-CTT-GTC c.1051_1053delinsGAC p.K351D Missense 10/11 - 1
17-7573973-CCTTGAGTT-C c.1046_1053del p.E349Gfs*30 Frameshift 10/11 - 1
17-7573975-CTT-C c.1051_1052del p.K351Gfs*30 Frameshift 10/11 - 3
17-7573975-T-A c.1052A>T p.K351M Missense 10/11 - 2
17-7573975-T-C c.1052A>G p.K351R Missense 10/11 - 10
17-7573975-T-G c.1052A>C p.K351T Missense 10/11 - 5
17-7573975-TT-GC c.1051_1052delinsGC p.K351A Missense 10/11 - 2
17-7573974-CT-C c.1052del p.K351Rfs*19 Frameshift 10/11 - 2
17-7573976-T-A c.1051A>T p.K351* Nonsense 10/11 - 27
17-7573976-T-C c.1051A>G p.K351E Missense 10/11 - 23
17-7573976-T-G c.1051A>C p.K351Q Missense 10/11 - 5
17-7573976-TGAGTTCCA-C c.1043_1051delinsG p.L348* Frameshift 10/11 - 1
17-7573976-T-TA c.1050_1051insT p.K351* Nonsense 10/11 - 1
17-7573976-TTGAGTTCC-T c.1044_1051del p.E349Gfs*30 Frameshift 10/11 - 2
17-7573976-TTG-T c.1050_1051del p.K351Gfs*30 Frameshift 10/11 - 1
17-7573974-CTTGAG-C c.1048_1052del p.L350Gfs*30 Frameshift 10/11 - 2
17-7573977-G-A c.1050C>T p.L350= Synonymous 10/11 - 8
17-7573977-G-C c.1050C>G p.L350= Synonymous 10/11 - 8
17-7573977-G-T c.1050C>A p.L350= Synonymous 10/11 - 6
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
17-7573976-TGA-T c.1049_1050del p.L350Qfs*31 Frameshift 10/11 - 4
17-7573978-A-C c.1049T>G p.L350R Missense 10/11 - 4
17-7573978-A-G c.1049T>C p.L350P Missense 10/11 - 13
17-7573978-AG-GC c.1048_1049delinsGC p.L350A Missense 10/11 - 6
17-7573978-A-T c.1049T>A p.L350H Missense 10/11 - 4
17-7573978-A-AG c.1048dup p.L350Pfs*32 Frameshift 10/11 - 1
17-7573979-G-A c.1048C>T p.L350F Missense 10/11 - 10
17-7573979-G-C c.1048C>G p.L350V Missense 10/11 - 8
17-7573979-G-T c.1048C>A p.L350I Missense 10/11 - 1
17-7573980-GTTCC-G c.1044_1047del p.L348Ffs*21 Frameshift 10/11 - 1
17-7573980-GTTC-G c.1045_1047del p.E349del InFrameDeletion 10/11 - 1
17-7573980-T-A c.1047A>T p.E349D Missense 10/11 - 4
17-7573980-T-C c.1047A>G p.E349= Synonymous 10/11 - 2
17-7573980-T-G c.1047A>C p.E349D Missense 10/11 - 4
17-7573979-G-GT c.1047dup p.L350Tfs*32 Frameshift 10/11 - 1
17-7573979-GT-G c.1047del p.E349Dfs*21 Frameshift 10/11 - 4
17-7573981-T-A c.1046A>T p.E349V Missense 10/11 - 4
17-7573981-T-C c.1046A>G p.E349G Missense 10/11 - 3
17-7573981-T-G c.1046A>C p.E349A Missense 10/11 - 1
17-7573982-C-A c.1045G>T p.E349* Nonsense 10/11 - 89
17-7573982-C-CA c.1044_1045insT p.E349* Nonsense 10/11 - 2
17-7573982-C-G c.1045G>C p.E349Q Missense 10/11 - 3
17-7573982-C-T c.1045G>A p.E349K Missense 10/11 - 13
17-7573981-TC-T c.1045del p.E349Nfs*21 Frameshift 10/11 - 9
17-7573983-C-A c.1044G>T p.L348F Missense 10/11 - 31
17-7573983-C-G c.1044G>C p.L348F Missense 10/11 - 18
17-7573984-AA-GC c.1042_1043delinsGC p.L348A Missense 10/11 - 15
17-7573984-AA-TC c.1042_1043delinsGA p.L348E Missense 10/11 - 1
17-7573984-A-C c.1043T>G p.L348W Missense 10/11 - 7
17-7573984-A-G c.1043T>C p.L348S Missense 10/11 - 26
17-7573984-A-T c.1043T>A p.L348* Nonsense 10/11 - 9
17-7573983-CA-C c.1043del p.L348Wfs*22 Frameshift 10/11 - 3
17-7573983-C-T c.1044G>A p.L348= Synonymous 10/11 - 1
17-7573985-A-AAGGCCTT c.1041_1042insAAGGCCT p.L348Kfs*36 Frameshift 10/11 - 1
17-7573985-AAGGCCTCAT-A c.1034_1042del p.N345_L348delinsM MultiAAMissense 10/11 - 2
17-7573985-A-C c.1042T>G p.L348V Missense 10/11 - 7
17-7573985-A-G c.1042T>C p.L348= Synonymous 10/11 - 2
17-7573985-A-T c.1042T>A p.L348M Missense 10/11 - 1
17-7573986-AGGCCTCATTCAGCTC-A c.1027_1041del p.E343_A347del InFrameDeletion 10/11 - 1
17-7573986-G-A c.1041C>T p.A347= Synonymous 10/11 - 3
17-7573986-G-C c.1041C>G p.A347= Synonymous 10/11 - 4
17-7573986-GGC-CTT c.1039_1041delinsAAG p.A347K Missense 10/11 - 1
17-7573986-G-T c.1041C>A p.A347= Synonymous 10/11 - 2
17-7573984-AAGGCCTCATTCAGCTCTCGGAACATCTCGAAGCGCTCACGCCCACGGATCTGCAGCAAC-A c.994-10_1042del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/11 9/10 1
17-7573985-AG-A c.1041del p.L348Wfs*22 Frameshift 10/11 - 3
17-7573987-G-A c.1040C>T p.A347V Missense 10/11 - 32
17-7573987-G-C c.1040C>G p.A347G Missense 10/11 - 8
17-7573987-GC-AA c.1039_1040delinsTT p.A347F Missense 10/11 - 1
17-7573987-GC-CA c.1039_1040delinsTG p.A347C Missense 10/11 - 1
17-7573987-GGCC-G c.1038_1040del p.E346_A347delinsD MultiAAMissense 10/11 - 1
17-7573987-G-GT c.1039_1040insA p.A347Dfs*35 Frameshift 10/11 - 1
17-7573987-G-T c.1040C>A p.A347D Missense 10/11 - 27
17-7573988-C-A c.1039G>T p.A347S Missense 10/11 - 6
17-7573988-C-CTA c.1038_1039insTA p.A347* Nonsense 10/11 - 1
17-7573988-C-G c.1039G>C p.A347P Missense 10/11 - 12
17-7573988-C-T c.1039G>A p.A347T Missense 10/11 - 36
17-7573987-GC-G c.1039del p.A347Pfs*23 Frameshift 10/11 - 2
17-7573987-G-GC c.1039dup p.A347Gfs*35 Frameshift 10/11 - 1
17-7573989-C-A c.1038G>T p.E346D Missense 10/11 - 6
17-7573989-C-G c.1038G>C p.E346D Missense 10/11 - 8
17-7573989-C-T c.1038G>A p.E346= Synonymous 10/11 - 2
17-7573989-CTCATTCAGCTCTCGG-A c.1023_1038delinsT p.R342_E346del InFrameDeletion 10/11 - 2
17-7573984-A-AAGGCCTT c.1042_1043insAAGGCCT p.L348* Nonsense 10/11 - 1
17-7573988-CCT-C c.1037_1038del p.E346Gfs*35 Frameshift 10/11 - 2
17-7573989-C-CT c.1037dup p.A347Gfs*35 Frameshift 10/11 - 1
17-7573990-CT-C c.1037del p.E346Gfs*24 Frameshift 10/11 - 2
17-7573990-T-A c.1037A>T p.E346V Missense 10/11 - 5
17-7573990-T-C c.1037A>G p.E346G Missense 10/11 - 9
17-7573990-T-G c.1037A>C p.E346A Missense 10/11 - 7
17-7573988-C-CCTCGTTAAGCTCCCTAAACAT c.1038_1039insATGTTTAGGGAGCTTAACGAG p.M340_E346dup InFrameInsertion 10/11 - 1
17-7573991-C-A c.1036G>T p.E346* Nonsense 10/11 - 54
17-7573991-C-G c.1036G>C p.E346Q Missense 10/11 - 4
17-7573991-C-T c.1036G>A p.E346K Missense 10/11 - 12
17-7573991-TC-T c.1036del p.E346Rfs*24 Frameshift 10/11 - 2
17-7573988-CCTCATTCAG-C c.1030_1038del p.L344_E346del InFrameDeletion 10/11 - 1
17-7573991-C-CA c.1035dup p.E346* Nonsense 10/11 - 1
17-7573992-A-C c.1035T>G p.N345K Missense 10/11 - 27
17-7573992-A-G c.1035T>C p.N345= Synonymous 10/11 - 1
17-7573992-A-T c.1035T>A p.N345K Missense 10/11 - 31
17-7573992-AT-CA c.1034_1035delinsTG p.N345M Missense 10/11 - 1
17-7573992-ATT-TTA c.1033_1035delinsTAA p.N345* Nonsense 10/11 - 1
17-7573992-CATTCAGCTCTCG-C c.1024_1035del p.R342_N345del InFrameDeletion 10/11 - 2
17-7573989-CTCAT-C c.1034_1037del p.N345Rfs*24 Frameshift 10/11 - 1
17-7573992-A-ATG c.1034_1035insCA p.E346Mfs*25 Frameshift 10/11 - 1
17-7573993-T-A c.1034A>T p.N345I Missense 10/11 - 4
17-7573993-T-C c.1034A>G p.N345S Missense 10/11 - 10
17-7573993-T-G c.1034A>C p.N345T Missense 10/11 - 4
17-7573992-A-AT c.1034dup p.N345Kfs*2 Frameshift 10/11 - 1
17-7573992-AT-A c.1034del p.N345Mfs*25 Frameshift 10/11 - 3
17-7573992-ATTCAGCTC-A c.1027_1034del p.E343* Frameshift 10/11 - 1
17-7573994-T-A c.1033A>T p.N345Y Missense 10/11 - 3
17-7573994-T-C c.1033A>G p.N345D Missense 10/11 - 16
17-7573994-T-G c.1033A>C p.N345H Missense 10/11 - 4
17-7573994-T-TA c.1032_1033insT p.N345* Nonsense 10/11 - 2
17-7573994-T-TTCAGC c.1032_1033insGCTGA p.N345Afs*27 Frameshift 10/11 - 1
17-7573995-C-A c.1032G>T p.L344= Synonymous 10/11 - 3
17-7573995-CAG-AAA c.1030_1032delinsTTT p.L344F Missense 10/11 - 5
17-7573995-CAG-ATA c.1030_1032delinsTAT p.L344Y Missense 10/11 - 2
17-7573995-C-G c.1032G>C p.L344= Synonymous 10/11 - 6
17-7573995-C-T c.1032G>A p.L344= Synonymous 10/11 - 6
17-7573995-TC-T c.1032del p.N345Mfs*25 Frameshift 10/11 - 3
17-7573997-G-A c.1030C>T p.L344= Synonymous 10/11 - 4
17-7573994-TCAG-T c.1030_1032del p.L344del InFrameDeletion 10/11 - 1
17-7573996-A-C c.1031T>G p.L344R Missense 10/11 - 34
17-7573996-A-G c.1031T>C p.L344P Missense 10/11 - 102
17-7573996-AG-CC c.1030_1031delinsGG p.L344G Missense 10/11 - 1
17-7573996-AG-GA c.1030_1031delinsTC p.L344S Missense 10/11 - 1
17-7573996-AG-GC c.1030_1031delinsGC p.L344A Missense 10/11 - 33
17-7573996-AG-TC c.1030_1031delinsGA p.L344E Missense 10/11 - 1
17-7573996-A-T c.1031T>A p.L344Q Missense 10/11 - 9
17-7573997-AG-A c.1030del p.L344* Frameshift 10/11 - 1
17-7573997-G-C c.1030C>G p.L344V Missense 10/11 - 1
17-7573997-G-GTT c.1029_1030insAA p.L344Nfs*2 Frameshift 10/11 - 1
17-7573997-G-T c.1030C>A p.L344M Missense 10/11 - 4
17-7573998-C-A c.1029G>T p.E343D Missense 10/11 - 3
17-7573998-C-G c.1029G>C p.E343D Missense 10/11 - 4
17-7573996-AGCTCTCGGAACATCTCGAAGCGCTCAC-A c.1004_1030del p.R335_E343del InFrameDeletion 10/11 - 1
17-7573999-CT-C c.1028del p.E343Gfs*2 Frameshift 10/11 - 9
17-7573999-T-A c.1028A>T p.E343V Missense 10/11 - 5
17-7573999-T-C c.1028A>G p.E343G Missense 10/11 - 7
17-7573999-TC-GT c.1027_1028delinsAC p.E343T Missense 10/11 - 1
17-7573999-T-G c.1028A>C p.E343A Missense 10/11 - 9
17-7574000-C-A c.1027G>T p.E343* Nonsense 10/11 - 73
17-7574000-C-CA c.1026_1027insT p.E343* Nonsense 10/11 - 5
17-7574000-C-G c.1027G>C p.E343Q Missense 10/11 - 9
17-7574000-C-T c.1027G>A p.E343K Missense 10/11 - 13
17-7573997-GCT-G c.1028_1029del p.E343Afs*3 Frameshift 10/11 - 11
17-7573999-TCTCGGAA-T c.1021_1027del p.F341Sfs*2 Frameshift 10/11 - 1
17-7574001-CT-C c.1026del p.E343Sfs*2 Frameshift 10/11 - 1
17-7574001-TC-AT c.1025_1026delinsAT p.R342H Missense 10/11 - 3
17-7574001-TCG-ACA c.1024_1026delinsTGT p.R342C Missense 10/11 - 3
17-7574000-C-CTCTTCTT c.1026_1027insAAGAAGA p.E343Kfs*6 Frameshift 10/11 - 1
17-7574002-C-A c.1025G>T p.R342L Missense 10/11 - 7
17-7574002-C-G c.1025G>C p.R342P Missense 10/11 - 117
17-7574002-CG-GC c.1024_1025delinsGC p.R342A Missense 10/11 - 2
17-7574002-CG-GT c.1024_1025delinsAC p.R342T Missense 10/11 - 1
17-7574002-CG-TC c.1024_1025delinsGA p.R342E Missense 10/11 - 2
17-7574002-C-T c.1025G>A p.R342Q Missense 10/11 - 31
17-7574002-TCGG-T c.1023_1025del p.F341_R342delinsL MultiAAMissense 10/11 - 1
17-7574002-TC-T c.1025del p.R342Qfs*3 Frameshift 10/11 - 8
17-7574001-T-A c.1026A>T p.R342= Synonymous 10/11 - 5
17-7574001-T-C c.1026A>G p.R342= Synonymous 10/11 - 5
17-7574001-TCGGAA-T c.1021_1025del p.F341Rfs*4 Frameshift 10/11 - 3
17-7574001-T-G c.1026A>C p.R342= Synonymous 10/11 - 5
17-7574003-CGGAACATCTCG-C c.1014_1024del p.F338Lfs*5 Frameshift 10/11 - 1
17-7574003-CGGA-C c.1022_1024del p.F341_R342delins* MultiAAMissense 10/11 - 1
17-7574003-CGG-C c.1023_1024del p.F341Lfs*5 Frameshift 10/11 - 1
17-7574003-G-A c.1024C>T p.R342* Nonsense 10/11 - 436
17-7574003-G-C c.1024C>G p.R342G Missense 10/11 - 5
17-7574003-G-T c.1024C>A p.R342= Synonymous 10/11 - 6
17-7573998-CTCTCGGAACA-C c.1019_1028del p.M340Sfs*2 Frameshift 10/11 - 6
17-7574002-CG-C c.1024del p.R342Efs*3 Frameshift 10/11 - 64
17-7574003-G-GGT c.1023_1024insAC p.R342Tfs*4 Frameshift 10/11 - 1
17-7574004-G-A c.1023C>T p.F341= Synonymous 10/11 - 11
17-7574004-GAA-CTT c.1021_1023delinsAAG p.F341K Missense 10/11 - 1
17-7574004-GA-TT c.1022_1023delinsAA p.F341* Nonsense 10/11 - 1
17-7574004-GGAA-G c.1021_1023del p.F341del InFrameDeletion 10/11 - 1
17-7574004-GGA-G c.1022_1023del p.F341Sfs*5 Frameshift 10/11 - 1
17-7574004-G-GTT c.1022_1023insAA p.F341Lfs*5 Frameshift 10/11 - 1
17-7574005-AA-GC c.1021_1022delinsGC p.F341A Missense 10/11 - 1
17-7574005-A-ATT c.1021_1022insAA p.F341* Nonsense 10/11 - 1
17-7574005-A-C c.1022T>G p.F341C Missense 10/11 - 27
17-7574005-A-G c.1022T>C p.F341S Missense 10/11 - 25
17-7574005-A-T c.1022T>A p.F341Y Missense 10/11 - 8
17-7574005-GAACATCTC-G c.1015_1022del p.E339Pfs*5 Frameshift 10/11 - 1
17-7574005-GAACATCT-G c.1016_1022del p.E339Afs*4 Frameshift 10/11 - 1
17-7574004-GAACATCTCGAAGCGCTC-G c.1006_1022del p.E336Pfs*5 Frameshift 10/11 - 1
17-7574004-GA-G c.1022del p.F341Sfs*4 Frameshift 10/11 - 3
17-7574004-G-C c.1023C>G p.F341L Missense 10/11 - 16
17-7574004-G-GA c.1022dup p.R342Pfs*5 Frameshift 10/11 - 6
17-7574004-G-T c.1023C>A p.F341L Missense 10/11 - 15
17-7574006-A-AG c.1020_1021insC p.F341Lfs*6 Frameshift 10/11 - 2
17-7574006-A-C c.1021T>G p.F341V Missense 10/11 - 15
17-7574006-A-G c.1021T>C p.F341L Missense 10/11 - 16
17-7574006-A-T c.1021T>A p.F341I Missense 10/11 - 8
17-7574005-AAC-A c.1020_1021del p.M340Ifs*6 Frameshift 10/11 - 1
17-7574007-AC-A c.1020del p.M340Ifs*5 Frameshift 10/11 - 1
17-7574007-C-A c.1020G>T p.M340I Missense 10/11 - 6
17-7574007-CAT-ACA c.1018_1020delinsTGT p.M340C Missense 10/11 - 1
17-7574007-CATCTCG-A c.1014_1020delinsT p.E339_M340del InFrameDeletion 10/11 - 1
17-7574007-C-G c.1020G>C p.M340I Missense 10/11 - 3
17-7574007-C-T c.1020G>A p.M340I Missense 10/11 - 4
17-7574006-ACAT-A c.1018_1020del p.M340del InFrameDeletion 10/11 - 1
17-7574007-C-CA c.1019dup p.M340Ifs*7 Frameshift 10/11 - 1
17-7574008-A-C c.1019T>G p.M340R Missense 10/11 - 4
17-7574008-A-G c.1019T>C p.M340T Missense 10/11 - 6
17-7574008-A-T c.1019T>A p.M340K Missense 10/11 - 6
17-7574008-AT-GC c.1018_1019delinsGC p.M340A Missense 10/11 - 1
17-7574008-AT-TC c.1018_1019delinsGA p.M340E Missense 10/11 - 2
17-7574008-AT-TG c.1018_1019delinsCA p.M340Q Missense 10/11 - 6
17-7574008-CATCT-C c.1016_1019del p.E339Gfs*5 Frameshift 10/11 - 1
17-7574006-ACATCTCGAAGCGCT-A c.1007_1020del p.E336Vfs*6 Frameshift 10/11 - 2
17-7574009-AT-A c.1018del p.M340Cfs*5 Frameshift 10/11 - 8
17-7574009-ATCT-A c.1016_1018del p.E339_M340delinsV MultiAAMissense 10/11 - 3
17-7574009-ATCTCGAAGC-A c.1010_1018del p.R337_M340delinsL MultiAAMissense 10/11 - 1
17-7574009-T-A c.1018A>T p.M340L Missense 10/11 - 2
17-7574009-T-C c.1018A>G p.M340V Missense 10/11 - 11
17-7574009-T-G c.1018A>C p.M340L Missense 10/11 - 1
17-7574008-A-ATCAC c.1018_1019insGTGA p.M340Sfs*8 Frameshift 10/11 - 1
17-7574009-T-TC c.1017dup p.M340Dfs*7 Frameshift 10/11 - 1
17-7574010-C-A c.1017G>T p.E339D Missense 10/11 - 3
17-7574010-C-G c.1017G>C p.E339D Missense 10/11 - 3
17-7574010-C-T c.1017G>A p.E339= Synonymous 10/11 - 3
17-7574010-TC-T c.1017del p.M340Cfs*5 Frameshift 10/11 - 1
17-7574010-TCTCG-T c.1014_1017del p.F338Lfs*6 Frameshift 10/11 - 3
17-7574008-ATC-A c.1017_1018del p.E339Dfs*7 Frameshift 10/11 - 1
17-7574008-ATCTCGAAGCGC-A c.1008_1018del p.E336Dfs*7 Frameshift 10/11 - 2
17-7574009-TCTCGAAG-T c.1011_1017del p.F338Cfs*5 Frameshift 10/11 - 1
17-7574011-CT-C c.1016del p.E339Gfs*6 Frameshift 10/11 - 1
17-7574011-T-A c.1016A>T p.E339V Missense 10/11 - 7
17-7574011-T-C c.1016A>G p.E339G Missense 10/11 - 6
17-7574011-T-G c.1016A>C p.E339A Missense 10/11 - 3
17-7574011-T-TG c.1015_1016insC p.E339Afs*8 Frameshift 10/11 - 1
17-7574012-C-A c.1015G>T p.E339* Nonsense 10/11 - 87
17-7574012-C-CA c.1014_1015insT p.E339* Nonsense 10/11 - 2
17-7574012-C-CTTT c.1014_1015insAAA p.F338_E339insK InFrameInsertion 10/11 - 1
17-7574012-C-G c.1015G>C p.E339Q Missense 10/11 - 25
17-7574012-C-T c.1015G>A p.E339K Missense 10/11 - 53
17-7574012-C-TCT c.1015delinsAGA p.E339Rfs*7 Frameshift 10/11 - 1
17-7574012-TCGA-T c.1013_1015del p.F338_E339delins* MultiAAMissense 10/11 - 1
17-7574012-TC-T c.1015del p.E339Rfs*6 Frameshift 10/11 - 7
17-7574010-CTCGAAGCGCTCACGCCCACGGA-C c.995_1016del p.I332Rfs*6 SpliceAcceptorDeletion 10/11 9/10 1
17-7574013-CG-C c.1014del p.F338Lfs*7 Frameshift 10/11 - 6
17-7574013-G-A c.1014C>T p.F338= Synonymous 10/11 - 19
17-7574013-GAA-CAT c.1012_1014delinsATG p.F338M Missense 10/11 - 1
17-7574014-AA-CC c.1012_1013delinsGG p.F338G Missense 10/11 - 1
17-7574014-A-ATC c.1012_1013insGA p.F338* Nonsense 10/11 - 1
17-7574014-A-C c.1013T>G p.F338C Missense 10/11 - 9
17-7574014-A-G c.1013T>C p.F338S Missense 10/11 - 9
17-7574014-A-T c.1013T>A p.F338Y Missense 10/11 - 2
17-7574013-GA-G c.1013del p.F338Sfs*7 Frameshift 10/11 - 4
17-7574013-G-C c.1014C>G p.F338L Missense 10/11 - 17
17-7574013-G-GA c.1013dup p.E339Rfs*8 Frameshift 10/11 - 1
17-7574013-G-T c.1014C>A p.F338L Missense 10/11 - 10
17-7574015-A-ACCTCTC c.1011_1012insGAGAGG p.E336_R337dup InFrameInsertion 10/11 - 1
17-7574015-AAG-A c.1011_1012del p.F338Rfs*8 Frameshift 10/11 - 1
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 - 8
17-7574015-A-G c.1012T>C p.F338L Missense 10/11 - 11
17-7574015-A-T c.1012T>A p.F338I Missense 10/11 - 17
17-7574016-AGCG-A c.1009_1011del p.R337del InFrameDeletion 10/11 - 1
17-7574016-AGCGCTC-A c.1006_1011del p.E336_R337del InFrameDeletion 10/11 - 2
17-7574016-AGCGCTCACGCCC-A c.1000_1011del p.G334_R337del InFrameDeletion 10/11 - 2
17-7574016-G-A c.1011C>T p.R337= Synonymous 10/11 - 7
17-7574016-G-C c.1011C>G p.R337= Synonymous 10/11 - 4
17-7574016-GCG-CTC c.1009_1011delinsGAG p.R337E Missense 10/11 - 1
17-7574016-GCG-CTT c.1009_1011delinsAAG p.R337K Missense 10/11 - 1
17-7574016-GCG-TCA c.1009_1011delinsTGA p.R337* Nonsense 10/11 - 8
17-7574016-GC-TT c.1010_1011delinsAA p.R337Q Missense 10/11 - 7
17-7574016-G-T c.1011C>A p.R337= Synonymous 10/11 - 2
17-7574018-GCTC-ATAA c.1006_1009delinsTTAT p.E336_R337delinsLC MultiAAMissense 10/11 - 1
17-7574003-G-GGAACATCTCGAAGCT c.1023_1024insAGCTTCGAGATGTTC p.F341_R342insSFEMF InFrameInsertion 10/11 - 1
17-7574017-C-A c.1010G>T p.R337L Missense 10/11 - 163
17-7574017-C-CA c.1009_1010insT p.R337Lfs*10 Frameshift 10/11 - 1
17-7574017-C-CT c.1009_1010insA p.R337Qfs*10 Frameshift 10/11 - 1
17-7574017-C-G c.1010G>C p.R337P Missense 10/11 - 57
17-7574017-CG-GC c.1009_1010delinsGC p.R337A Missense 10/11 - 4
17-7574017-CG-GT c.1009_1010delinsAC p.R337T Missense 10/11 - 9
17-7574017-CG-TA c.1009_1010delinsTA p.R337Y Missense 10/11 - 1
17-7574017-CG-TC c.1009_1010delinsGA p.R337D Missense 10/11 - 1
17-7574017-C-T c.1010G>A p.R337H Missense 10/11 - 398
17-7574017-GC-G c.1010del p.R337Pfs*8 Frameshift 10/11 - 2
17-7574015-AGC-A c.1010_1011del p.R337Lfs*9 Frameshift 10/11 - 3
17-7574018-CG-C c.1009del p.R337Afs*8 Frameshift 10/11 - 1
17-7574018-G-A c.1009C>T p.R337C Missense 10/11 - 277
17-7574018-G-C c.1009C>G p.R337G Missense 10/11 - 28
17-7574018-G-T c.1009C>A p.R337S Missense 10/11 - 26
17-7574018-G-GC c.1008dup p.R337Afs*10 Frameshift 10/11 - 1
17-7574019-C-A c.1008G>T p.E336D Missense 10/11 - 7
17-7574019-C-G c.1008G>C p.E336D Missense 10/11 - 4
17-7574019-C-T c.1008G>A p.E336= Synonymous 10/11 - 3
17-7574018-GCTCACGC-G c.1002_1008del p.R335Afs*8 Frameshift 10/11 - 2
17-7574018-GCTCA-G c.1005_1008del p.E336Afs*8 Frameshift 10/11 - 1
17-7574019-C-CT c.1007dup p.R337Afs*10 Frameshift 10/11 - 1
17-7574020-T-A c.1007A>T p.E336V Missense 10/11 - 2
17-7574020-T-C c.1007A>G p.E336G Missense 10/11 - 8
17-7574020-T-G c.1007A>C p.E336A Missense 10/11 - 3
17-7574021-C-A c.1006G>T p.E336* Nonsense 10/11 - 114
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 - 4
17-7574021-C-T c.1006G>A p.E336K Missense 10/11 - 21
17-7574021-TC-T c.1006del p.E336Sfs*9 Frameshift 10/11 - 1
17-7574020-TCA-T c.1005_1006del p.E336Afs*10 Frameshift 10/11 - 5
17-7574021-C-CA c.1005dup p.E336* Nonsense 10/11 - 2
17-7574022-A-C c.1005T>G p.R335= Synonymous 10/11 - 1
17-7574022-ACG-CCA c.1003_1005delinsTGG p.R335W Missense 10/11 - 2
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-AC-TT c.1004_1005delinsAA p.R335Q Missense 10/11 - 1
17-7574022-A-G c.1005T>C p.R335= Synonymous 10/11 - 2
17-7574022-A-T c.1005T>A p.R335= Synonymous 10/11 - 2
17-7574022-CA-C c.1005del p.E336Sfs*9 Frameshift 10/11 - 3
17-7574022-CACG-C c.1003_1005del p.R335del InFrameDeletion 10/11 - 3
17-7574023-AC-A c.1004del p.R335Lfs*10 Frameshift 10/11 - 5
17-7574023-C-A c.1004G>T p.R335L Missense 10/11 - 8
17-7574023-C-CT c.1003_1004insA p.R335Qfs*2 Frameshift 10/11 - 1
17-7574023-C-G c.1004G>C p.R335P Missense 10/11 - 4
17-7574023-CG-GT c.1003_1004delinsAC p.R335T Missense 10/11 - 1
17-7574023-C-T c.1004G>A p.R335H Missense 10/11 - 28
17-7574024-CG-C c.1003del p.R335Vfs*10 Frameshift 10/11 - 3
17-7574024-G-A c.1003C>T p.R335C Missense 10/11 - 25
17-7574024-G-C c.1003C>G p.R335G Missense 10/11 - 3
17-7574024-G-T c.1003C>A p.R335S Missense 10/11 - 2
17-7574020-TCACGCC-T c.1001_1006del p.G334_R335del InFrameDeletion 10/11 - 2
17-7574023-CGCCCACG-C c.997_1003del p.R333Vfs*10 Frameshift 10/11 - 2
17-7574025-C-A c.1002G>T p.G334= Synonymous 10/11 - 4
17-7574025-CCC-GCT c.1000_1002delinsAGC p.G334S Missense 10/11 - 1
17-7574025-CC-GT c.1001_1002delinsAC p.G334D Missense 10/11 - 1
17-7574025-C-G c.1002G>C p.G334= Synonymous 10/11 - 4
17-7574025-C-T c.1002G>A p.G334= Synonymous 10/11 - 6
17-7574026-C-A c.1001G>T p.G334V Missense 10/11 - 89
17-7574026-C-CA c.1000_1001insT p.G334Vfs*3 Frameshift 10/11 - 1
17-7574026-CC-AG c.1000_1001delinsCT p.G334L Missense 10/11 - 1
17-7574026-CC-TA c.1000_1001delinsTA p.G334* Nonsense 10/11 - 1
17-7574026-C-G c.1001G>C p.G334A Missense 10/11 - 9
17-7574026-C-T c.1001G>A p.G334E Missense 10/11 - 14
17-7574024-GC-G c.1002del p.R335Vfs*10 Frameshift 10/11 - 5
17-7574024-G-GC c.1002dup p.R335Afs*2 Frameshift 10/11 - 2
17-7574027-C-A c.1000G>T p.G334W Missense 10/11 - 56
17-7574027-C-G c.1000G>C p.G334R Missense 10/11 - 26
17-7574027-C-T c.1000G>A p.G334R Missense 10/11 - 18
17-7574027-C-CA c.999dup p.G334Wfs*3 Frameshift 10/11 - 1
17-7574028-A-C c.999T>G p.R333= Synonymous 10/11 - 2
17-7574028-ACG-CCA c.997_999delinsTGG p.R333W Missense 10/11 - 1
17-7574028-ACG-TCA c.997_999delinsTGA p.R333* Nonsense 10/11 - 5
17-7574028-ACG-TCACGCCCACT c.997_999delinsAGTGGGCGTGA p.R333Sfs*15 Frameshift 10/11 - 1
17-7574028-AC-TT c.998_999delinsAA p.R333Q Missense 10/11 - 2
17-7574028-A-G c.999T>C p.R333= Synonymous 10/11 - 3
17-7574028-A-T c.999T>A p.R333= Synonymous 10/11 - 2
17-7574028-CACG-C c.997_999del p.R333del InFrameDeletion 10/11 - 2
17-7574027-CACGG-C c.996_999del p.I332Mfs*12 Frameshift 10/11 - 2
17-7574028-A-AC c.998dup p.G334Wfs*3 Frameshift 10/11 - 1
17-7574029-AC-A c.998del p.R333Lfs*12 Frameshift 10/11 - 3
17-7574029-C-A c.998G>T p.R333L Missense 10/11 - 4
17-7574029-C-G c.998G>C p.R333P Missense 10/11 - 7
17-7574029-CG-AT c.997_998delinsAT p.R333I Missense 10/11 - 1
17-7574029-CG-GC c.997_998delinsGC p.R333A Missense 10/11 - 3
17-7574029-C-T c.998G>A p.R333H Missense 10/11 - 27
17-7574030-CGGAT-C c.994_997del p.I332Vfs*12 SpliceAcceptorDeletion 10/11 - 1
17-7574030-CGG-C c.996_997del p.I332Mfs*4 Frameshift 10/11 - 1
17-7574030-G-A c.997C>T p.R333C Missense 10/11 - 33
17-7574030-G-C c.997C>G p.R333G Missense 10/11 - 12
17-7574030-G-T c.997C>A p.R333S Missense 10/11 - 2
17-7574029-C-CG c.997dup p.R333Pfs*4 Frameshift 10/11 - 3
17-7574029-CG-C c.997del p.R333Vfs*12 Frameshift 10/11 - 37
17-7574031-G-A c.996C>T p.I332= Synonymous 10/11 - 5
17-7574031-GA-CC c.995_996delinsGG p.I332R Missense 10/11 - 1
17-7574031-GA-CT c.995_996delinsAG p.I332K Missense 10/11 - 1
17-7574031-GAT-CCA c.994_996delinsTGG p.I332W Missense 10/11 - 1
17-7574031-GAT-CTC c.994_996delinsGAG p.I332E Missense 10/11 - 7
17-7574031-GAT-TTG c.994_996delinsCAA p.I332Q Missense 10/11 - 1
17-7574031-G-C c.996C>G p.I332M Missense 10/11 - 8
17-7574031-G-T c.996C>A p.I332= Synonymous 10/11 - 3
17-7574032-A-C c.995T>G p.I332S Missense 10/11 - 11
17-7574032-A-G c.995T>C p.I332T Missense 10/11 - 5
17-7574032-A-T c.995T>A p.I332N Missense 10/11 - 9
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-GC c.994_995delinsGC p.I332A Missense 10/11 - 4
17-7574032-AT-GG c.994_995delinsCC p.I332P Missense 10/11 - 1
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-TG c.994_995delinsCA p.I332H Missense 10/11 - 1
17-7574032-GA-G c.995del p.I332Tfs*13 Frameshift 10/11 - 2
17-7574032-GAT-G c.994_995del p.I332Pfs*4 SpliceAcceptorDeletion 10/11 - 1
17-7574032-A-AT c.994dup p.I332Nfs*5 SpliceAcceptorInsertion - - 7
17-7574033-T-A c.994A>T p.I332F Missense 10/11 - 14
17-7574033-T-C c.994A>G p.I332V Missense 10/11 - 12
17-7574033-T-G c.994A>C p.I332L Missense 10/11 - 2
17-7574034-C-G c.994-1G>C - IntronicSNV - 9/10 9
17-7574034-C-T c.994-1G>A - IntronicSNV - 9/10 9
17-7574035-T-C c.994-2A>G - IntronicSNV - 9/10 3
17-7574038-A-G c.994-5T>C - IntronicSNV - 9/10 1
17-7574050-G-A c.994-17C>T - IntronicSNV - 9/10 2
17-7574052-G-A c.994-19C>T - IntronicSNV - 9/10 1
17-7574059-G-A c.994-26C>T - IntronicSNV - 9/10 1
17-7574062-A-G c.994-29T>C - IntronicSNV - 9/10 1
17-7574064-T-C c.994-31A>G - IntronicSNV - 9/10 1
17-7574065-A-G c.994-32T>C - IntronicSNV - 9/10 1
17-7574072-C-T c.994-39G>A - IntronicSNV - 9/10 1
17-7574074-G-A c.994-41C>T - IntronicSNV - 9/10 1
17-7574081-A-C c.994-48T>G - IntronicSNV - 9/10 1
17-7574095-T-A c.994-62A>T - IntronicSNV - 9/10 1
17-7574109-T-C c.994-76A>G - IntronicSNV - 9/10 1
17-7574123-G-A c.994-90C>T - IntronicSNV - 9/10 1
17-7574123-G-C c.994-90C>G - IntronicSNV - 9/10 1
17-7574155-G-T c.994-122C>A - IntronicSNV - 9/10 1
17-7574184-T-A c.994-151A>T - IntronicSNV - 9/10 1
17-7574239-G-C c.994-206C>G - IntronicSNV - 9/10 1
17-7574246-A-G c.994-213T>C - IntronicSNV - 9/10 1
17-7574254-A-G c.994-221T>C - IntronicSNV - 9/10 1
17-7574270-A-G c.994-237T>C - IntronicSNV - 9/10 1
17-7574275-C-T c.994-242G>A - IntronicSNV - 9/10 1
17-7574302-G-C c.994-269C>G - IntronicSNV - 9/10 1
17-7574315-G-A c.994-282C>T - IntronicSNV - 9/10 2
17-7574315-G-C c.994-282C>G - IntronicSNV - 9/10 2
17-7574323-G-A c.994-290C>T - IntronicSNV - 9/10 1
17-7574346-C-T c.994-313G>A - IntronicSNV - 9/10 1
17-7574378-T-C c.994-345A>G - IntronicSNV - 9/10 1
17-7574386-C-T c.994-353G>A - IntronicSNV - 9/10 1
17-7574421-G-A c.994-388C>T - IntronicSNV - 9/10 1
17-7574421-G-T c.994-388C>A - IntronicSNV - 9/10 1
17-7574423-C-T c.994-390G>A - IntronicSNV - 9/10 1
17-7574432-T-C c.994-399A>G - IntronicSNV - 9/10 1
17-7574442-C-G c.994-409G>C - IntronicSNV - 9/10 1
17-7574443-A-C c.994-410T>G - IntronicSNV - 9/10 1
17-7574443-A-G c.994-410T>C - IntronicSNV - 9/10 1
17-7574458-G-A c.994-425C>T - IntronicSNV - 9/10 2
17-7574488-C-T c.994-455G>A - IntronicSNV - 9/10 1
17-7574494-T-C c.994-461A>G - IntronicSNV - 9/10 1
17-7574495-T-A c.994-462A>T - IntronicSNV - 9/10 1
17-7574505-G-A c.994-472C>T - IntronicSNV - 9/10 1
17-7574514-T-A c.994-481A>T - IntronicSNV - 9/10 1
17-7574535-G-A c.994-502C>T - IntronicSNV - 9/10 1
17-7574548-T-C c.994-515A>G - IntronicSNV - 9/10 1
17-7574591-G-A c.994-558C>T - IntronicSNV - 9/10 1
17-7574606-C-T c.994-573G>A - IntronicSNV - 9/10 1
17-7574607-G-A c.994-574C>T - IntronicSNV - 9/10 1
17-7574618-G-A c.994-585C>T - IntronicSNV - 9/10 1
17-7574622-C-G c.994-589G>C - IntronicSNV - 9/10 1
17-7574627-C-A c.994-594G>T - IntronicSNV - 9/10 1
17-7574627-C-T c.994-594G>A - IntronicSNV - 9/10 1
17-7574642-C-T c.994-609G>A - IntronicSNV - 9/10 1
17-7574643-G-A c.994-610C>T - IntronicSNV - 9/10 1
17-7574646-G-A c.994-613C>T - IntronicSNV - 9/10 1
17-7574673-G-A c.994-640C>T - IntronicSNV - 9/10 1
17-7574680-C-T c.994-647G>A - IntronicSNV - 9/10 1
17-7574681-G-A c.994-648C>T - IntronicSNV - 9/10 1
17-7574694-C-T c.994-661G>A - IntronicSNV - 9/10 1
17-7574705-C-T c.994-672G>A - IntronicSNV - 9/10 1
17-7574721-C-T c.994-688G>A - IntronicSNV - 9/10 4
17-7574738-C-A c.994-705G>T - IntronicSNV - 9/10 1
17-7574743-C-T c.994-710G>A - IntronicSNV - 9/10 1
17-7574744-A-G c.994-711T>C - IntronicSNV - 9/10 1
17-7574775-C-T c.994-742G>A - IntronicSNV - 9/10 8
17-7574778-C-T c.994-745G>A - IntronicSNV - 9/10 1
17-7574776-G-GC c.-29+5163_-29+5164insG - IntronicInsertion - 1/10 1
17-7574779-C-T c.994-746G>A - IntronicSNV - 9/10 5
17-7574780-G-A c.994-747C>T - IntronicSNV - 9/10 1
17-7574805-A-G c.994-772T>C - IntronicSNV - 9/10 1
17-7574809-G-T c.994-776C>A - IntronicSNV - 9/10 1
17-7574848-C-T c.994-815G>A - IntronicSNV - 9/10 1
17-7574864-C-T c.994-831G>A - IntronicSNV - 9/10 4
17-7574873-C-T c.994-840G>A - IntronicSNV - 9/10 1
17-7574897-C-T c.994-864G>A - IntronicSNV - 9/10 1
17-7574909-C-T c.994-876G>A - IntronicSNV - 9/10 1
17-7574929-T-C c.994-896A>G - IntronicSNV - 9/10 1
17-7574936-C-T c.994-903G>A - IntronicSNV - 9/10 5
17-7574938-C-T c.994-905G>A - IntronicSNV - 9/10 1
17-7574943-C-T c.994-910G>A - IntronicSNV - 9/10 1
17-7574944-G-A c.994-911C>T - IntronicSNV - 9/10 1
17-7574953-G-A c.994-920C>T - IntronicSNV - 9/10 1
17-7574993-G-C c.994-960C>G - IntronicSNV - 9/10 1
17-7574997-C-T c.994-964G>A - IntronicSNV - 9/10 1
17-7575003-T-G c.994-970A>C - IntronicSNV - 9/10 1
17-7575016-T-C c.994-983A>G - IntronicSNV - 9/10 1
17-7575020-A-G c.994-987T>C - IntronicSNV - 9/10 1
17-7575039-C-T c.994-1006G>A - IntronicSNV - 9/10 1
17-7575118-G-A c.994-1085C>T - IntronicSNV - 9/10 1
17-7575123-A-G c.994-1090T>C - IntronicSNV - 9/10 1
17-7575206-A-G c.994-1173T>C - IntronicSNV - 9/10 1
17-7575210-G-T c.994-1177C>A - IntronicSNV - 9/10 1
17-7575226-G-A c.994-1193C>T - IntronicSNV - 9/10 1
17-7575262-A-AGTC c.994-1230_994-1229insGAC - IntronicInsertion - 9/10 1
17-7575288-G-A c.994-1255C>T - IntronicSNV - 9/10 1
17-7575292-G-A c.994-1259C>T - IntronicSNV - 9/10 1
17-7575306-T-G c.994-1273A>C - IntronicSNV - 9/10 1
17-7575321-C-T c.994-1288G>A - IntronicSNV - 9/10 1
17-7575323-C-T c.994-1290G>A - IntronicSNV - 9/10 1
17-7575324-C-T c.994-1291G>A - IntronicSNV - 9/10 1
17-7575332-A-G c.994-1299T>C - IntronicSNV - 9/10 1
17-7575359-G-T c.994-1326C>A - IntronicSNV - 9/10 1
17-7575369-C-A c.994-1336G>T - IntronicSNV - 9/10 1
17-7575369-C-T c.994-1336G>A - IntronicSNV - 9/10 1
17-7575393-G-A c.994-1360C>T - IntronicSNV - 9/10 1
17-7575399-C-T c.994-1366G>A - IntronicSNV - 9/10 1
17-7575415-A-G c.994-1382T>C - IntronicSNV - 9/10 1
17-7575431-C-T c.994-1398G>A - IntronicSNV - 9/10 1
17-7575432-G-A c.994-1399C>T - IntronicSNV - 9/10 1
17-7575436-G-A c.994-1403C>T - IntronicSNV - 9/10 1
17-7575436-G-T c.994-1403C>A - IntronicSNV - 9/10 1
17-7575464-C-T c.993+1389G>A - IntronicSNV - 9/10 1
17-7575475-C-A c.993+1378G>T - IntronicSNV - 9/10 1
17-7575475-C-T c.993+1378G>A - IntronicSNV - 9/10 1
17-7575476-G-A c.993+1377C>T - IntronicSNV - 9/10 1
17-7575477-A-T c.993+1376T>A - IntronicSNV - 9/10 1
17-7575479-G-A c.993+1374C>T - IntronicSNV - 9/10 1
17-7575484-C-T c.993+1369G>A - IntronicSNV - 9/10 1
17-7575485-G-A c.993+1368C>T - IntronicSNV - 9/10 1
17-7575492-A-G c.993+1361T>C - IntronicSNV - 9/10 1
17-7575506-G-A c.993+1347C>T - IntronicSNV - 9/10 1
17-7575514-C-T c.993+1339G>A - IntronicSNV - 9/10 1
17-7575515-C-T c.993+1338G>A - IntronicSNV - 9/10 1
17-7575564-T-C c.993+1289A>G - IntronicSNV - 9/10 2
17-7575568-C-A c.993+1285G>T - IntronicSNV - 9/10 1
17-7575568-C-T c.993+1285G>A - IntronicSNV - 9/10 1
17-7575582-C-CT c.993+1270dup - IntronicInsertion - 9/10 1
17-7575585-G-A c.993+1268C>T - IntronicSNV - 9/10 1
17-7575600-C-T c.993+1253G>A - IntronicSNV - 9/10 1
17-7575627-G-A c.993+1226C>T - IntronicSNV - 9/10 1
17-7575633-A-G c.993+1220T>C - IntronicSNV - 9/10 1
17-7575686-C-T c.993+1167G>A - IntronicSNV - 9/10 1
17-7575713-A-T c.993+1140T>A - IntronicSNV - 9/10 1
17-7575714-A-G c.993+1139T>C - IntronicSNV - 9/10 1
17-7575710-A-AAAAAT c.993+1138_993+1142dup - IntronicInsertion - 9/10 1
17-7575730-T-A c.993+1123A>T - IntronicSNV - 9/10 1
17-7575733-A-G c.993+1120T>C - IntronicSNV - 9/10 3
17-7575753-G-A c.993+1100C>T - IntronicSNV - 9/10 1
17-7575817-G-A c.993+1036C>T - IntronicSNV - 9/10 1
17-7575821-C-G c.993+1032G>C - IntronicSNV - 9/10 1
17-7575821-C-T c.993+1032G>A - IntronicSNV - 9/10 1
17-7575831-G-A c.993+1022C>T - IntronicSNV - 9/10 1
17-7575838-G-A c.993+1015C>T - IntronicSNV - 9/10 1
17-7575844-A-C c.993+1009T>G - IntronicSNV - 9/10 1
17-7575863-C-T c.993+990G>A - IntronicSNV - 9/10 1
17-7575869-A-C c.993+984T>G - IntronicSNV - 9/10 1
17-7575874-G-A c.993+979C>T - IntronicSNV - 9/10 1
17-7575875-C-G c.993+978G>C - IntronicSNV - 9/10 1
17-7575888-G-A c.993+965C>T - IntronicSNV - 9/10 1
17-7575915-T-C c.993+938A>G - IntronicSNV - 9/10 1
17-7575921-C-T c.993+932G>A - IntronicSNV - 9/10 1
17-7575928-G-A c.993+925C>T - IntronicSNV - 9/10 1
17-7575942-G-A c.993+911C>T - IntronicSNV - 9/10 1
17-7575944-C-CTCTA c.993+905_993+908dup - IntronicInsertion - 9/10 1
17-7575954-C-T c.993+899G>A - IntronicSNV - 9/10 1
17-7575981-G-C c.993+872C>G - IntronicSNV - 9/10 1
17-7575983-A-G c.993+870T>C - IntronicSNV - 9/10 1
17-7576023-G-A c.993+830C>T - IntronicSNV - 9/10 1
17-7576033-G-C c.993+820C>G - IntronicSNV - 9/10 1
17-7576043-G-A c.993+810C>T - IntronicSNV - 9/10 1
17-7576144-G-A c.993+709C>T - IntronicSNV - 9/10 1
17-7576151-G-A c.993+702C>T - IntronicSNV - 9/10 2
17-7576157-G-A c.993+696C>T - IntronicSNV - 9/10 1
17-7576164-C-T c.993+689G>A - IntronicSNV - 9/10 1
17-7576195-A-C c.993+658T>G - IntronicSNV - 9/10 1
17-7576195-A-G c.993+658T>C - IntronicSNV - 9/10 1
17-7576221-G-A c.993+632C>T - IntronicSNV - 9/10 1
17-7576245-G-A c.993+608C>T - IntronicSNV - 9/10 1
17-7576246-G-A c.993+607C>T - IntronicSNV - 9/10 1
17-7576258-C-G c.993+595G>C - IntronicSNV - 9/10 1
17-7576263-C-T c.993+590G>A - IntronicSNV - 9/10 1
17-7576272-A-T c.993+581T>A - IntronicSNV - 9/10 1
17-7576276-T-A c.993+577A>T - IntronicSNV - 9/10 3
17-7576277-A-T c.993+576T>A - IntronicSNV - 9/10 1
17-7576278-A-C c.993+575T>G - IntronicSNV - 9/10 1
17-7576279-A-G c.993+574T>C - IntronicSNV - 9/10 1
17-7576280-T-A c.993+573A>T - IntronicSNV - 9/10 1
17-7576285-A-G c.993+568T>C - IntronicSNV - 9/10 1
17-7576289-A-G c.993+564T>C - IntronicSNV - 9/10 1
17-7576304-G-A c.993+549C>T - IntronicSNV - 9/10 1
17-7576306-C-T c.993+547G>A - IntronicSNV - 9/10 1
17-7576314-G-A c.993+539C>T - IntronicSNV - 9/10 1
17-7576344-G-A c.993+509C>T - IntronicSNV - 9/10 1
17-7576348-C-T c.993+505G>A - IntronicSNV - 9/10 4
17-7576360-T-C c.993+493A>G - IntronicSNV - 9/10 1
17-7576361-T-A c.993+492A>T - IntronicSNV - 9/10 1
17-7576361-T-G c.993+492A>C - IntronicSNV - 9/10 1
17-7576375-G-A c.993+478C>T - IntronicSNV - 9/10 1
17-7576392-G-A c.993+461C>T - IntronicSNV - 9/10 1
17-7576396-T-G c.993+457A>C - IntronicSNV - 9/10 1
17-7576398-C-T c.993+455G>A - IntronicSNV - 9/10 1
17-7576400-CGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAA-C c.993+395_993+453del - Unclassified - 9/10 1
17-7576400-G-A c.993+453C>T - IntronicSNV - 9/10 1
17-7576407-7576408---ACTCCAGCCTGGGTGACAGAGTGAG c.993+421_993+445dup - intron_variant - 9/10 1
17-7576422-G-A c.993+431C>T - IntronicSNV - 9/10 2
17-7576429-T-C c.993+424A>G - IntronicSNV - 9/10 1
17-7576460-A-AAG c.993+392_993+393insCT - IntronicInsertion - 9/10 1
17-7576463-G-A c.993+390C>T - IntronicSNV - 9/10 1
17-7576470-A-G c.993+383T>C - IntronicSNV - 9/10 1
17-7576489-C-A c.993+364G>T - IntronicSNV - 9/10 1
17-7576489-C-T c.993+364G>A - IntronicSNV - 9/10 1
17-7576494-A-G c.993+359T>C - IntronicSNV - 9/10 1
17-7576501-G-A c.993+352C>T - IntronicSNV - 9/10 6
17-7576503-A-G c.993+350T>C - IntronicSNV - 9/10 1
17-7576504-T-G c.993+349A>C - IntronicSNV - 9/10 1
17-7576512-A-G c.993+341T>C - IntronicSNV - 9/10 1
17-7576522-T-TAAG c.993+330_993+331insCTT - IntronicInsertion - 9/10 1
17-7576511-CATTTTCAACTTACAAT-C c.993+326_993+341del - IntronicDeletion - 9/10 2
17-7576525-A-C c.993+328T>G - IntronicSNV - 9/10 1
17-7576530-T-C c.993+323A>G - IntronicSNV - 9/10 1
17-7576533-C-T c.993+320G>A - IntronicSNV - 9/10 1
17-7576536-C-T c.993+317G>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
17-7576539-A-T c.993+314T>A - IntronicSNV - 9/10 1
17-7576540-C-T c.993+313G>A - IntronicSNV - 9/10 3
17-7576541-G-A c.993+312C>T - IntronicSNV - 9/10 6
17-7576541-G-C c.993+312C>G - IntronicSNV - 9/10 1
17-7576542-A-C c.993+311T>G - IntronicSNV - 9/10 1
17-7576542-A-G c.993+311T>C - IntronicSNV - 9/10 3
17-7576538-TACG-T c.993+312_993+314del - IntronicDeletion - 9/10 1
17-7576543-C-A c.993+310G>T - IntronicSNV - 9/10 2
17-7576543-C-T c.993+310G>A - IntronicSNV - 9/10 3
17-7576544-G-A c.993+309C>T - IntronicSNV - 9/10 6
17-7576546-G-A c.993+307C>T - IntronicSNV - 9/10 2
17-7576546-G-C c.993+307C>G - IntronicSNV - 9/10 4
17-7576546-G-T c.993+307C>A - IntronicSNV - 9/10 2
17-7576547-T-C c.993+306A>G - IntronicSNV - 9/10 1
17-7576550-A-T c.993+303T>A - IntronicSNV - 9/10 1
17-7576554-G-A c.993+299C>T - IntronicSNV - 9/10 2
17-7576557-A-G c.993+296T>C - 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 5
17-7576563-A-T c.993+290T>A - IntronicSNV - 9/10 3
17-7576566-A-G c.993+287T>C - IntronicSNV - 9/10 4
17-7576567-T-C c.993+286A>G - IntronicSNV - 9/10 1
17-7576568-C-G c.993+285G>C - IntronicSNV - 9/10 1
17-7576568-C-T c.993+285G>A - IntronicSNV - 9/10 5
17-7576568-TCGTAA-T c.993+281_993+285del - IntronicDeletion - 9/10 1
17-7576569-G-A c.993+284C>T - IntronicSNV - 9/10 4
17-7576570-T-G c.993+283A>C - IntronicSNV - 9/10 1
17-7576571-A-C c.993+282T>G - IntronicSNV - 9/10 1
17-7576571-A-G c.993+282T>C - IntronicSNV - 9/10 1
17-7576572-A-C c.993+281T>G - IntronicSNV - 9/10 2
17-7576573-G-A c.993+280C>T - IntronicSNV - 9/10 1
17-7576577-A-T c.993+276T>A - IntronicSNV - 9/10 1
17-7576579-T-C c.993+274A>G - IntronicSNV - 9/10 2
17-7576581-G-T c.993+272C>A - IntronicSNV - 9/10 1
17-7576583-A-T c.993+270T>A - IntronicSNV - 9/10 1
17-7576588-T-C c.993+265A>G - IntronicSNV - 9/10 1
17-7576591-C-T c.993+262G>A - IntronicSNV - 9/10 1
17-7576595-C-A c.993+258G>T - IntronicSNV - 9/10 1
17-7576596-A-G c.993+257T>C - IntronicSNV - 9/10 1
17-7576601-C-T c.993+252G>A - IntronicSNV - 9/10 1
17-7576605-G-A c.993+248C>T - IntronicSNV - 9/10 1
17-7576607-A-T c.993+246T>A - IntronicSNV - 9/10 1
17-7576608-C-T c.993+245G>A - IntronicSNV - 9/10 1
17-7576609-C-A c.993+244G>T - IntronicSNV - 9/10 2
17-7576609-C-G c.993+244G>C - IntronicSNV - 9/10 2
17-7576609-C-T c.993+244G>A - IntronicSNV - 9/10 2
17-7576613-T-A c.993+240A>T - IntronicSNV - 9/10 1
17-7576618-G-A c.993+235C>T - IntronicSNV - 9/10 1
17-7576619-C-T c.993+234G>A - IntronicSNV - 9/10 3
17-7576625-T-C c.993+228A>G - IntronicSNV - 9/10 3
17-7576626-T-C c.993+227A>G - IntronicSNV - 9/10 1
17-7576626-T-G c.993+227A>C - IntronicSNV - 9/10 3
17-7576630-A-C c.993+223T>G - IntronicSNV - 9/10 4
17-7576630-A-G c.993+223T>C - IntronicSNV - 9/10 4
17-7576630-A-T c.993+223T>A - IntronicSNV - 9/10 4
17-7576633-T-C c.993+220A>G - IntronicSNV - 9/10 3
17-7576636-C-G c.993+217G>C - IntronicSNV - 9/10 1
17-7576637-T-G c.993+216A>C - IntronicSNV - 9/10 4
17-7576640-T-C c.993+213A>G - IntronicSNV - 9/10 2
17-7576645-A-T c.993+208T>A - 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 5
17-7576655-G-A c.993+198C>T - IntronicSNV - 9/10 5
17-7576655-G-T c.993+198C>A - IntronicSNV - 9/10 2
17-7576656-T-C c.993+197A>G - IntronicSNV - 9/10 1
17-7576659-T-C c.993+194A>G - IntronicSNV - 9/10 1
17-7576662-TAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCC-T c.993+133_993+191del - SpliceDonorDeletion - 9/10 1
17-7576664-A-C c.993+189T>G - IntronicSNV - 9/10 1
17-7576664-A-G c.993+189T>C - IntronicSNV - 9/10 1
17-7576664-A-T c.993+189T>A - IntronicSNV - 9/10 2
17-7576668-T-C c.993+185A>G - IntronicSNV - 9/10 1
17-7576671-A-G c.993+182T>C - IntronicSNV - 9/10 1
17-7576677-G-A c.993+176C>T - IntronicSNV - 9/10 1
17-7576677-G-T c.993+176C>A - IntronicSNV - 9/10 1
17-7576679-A-G c.993+174T>C - IntronicSNV - 9/10 1
17-7576682-A-G c.993+171T>C - IntronicSNV - 9/10 1
17-7576683-G-A c.993+170C>T - IntronicSNV - 9/10 1
17-7576684-T-C c.993+169A>G - IntronicSNV - 9/10 1
17-7576686-G-GGT c.993+165_993+166dup - IntronicInsertion - 9/10 2
17-7576692-C-G c.993+161G>C - IntronicSNV - 9/10 1
17-7576705-G-A c.993+148C>T - IntronicSNV - 9/10 1
17-7576712-C-T c.993+141G>A - IntronicSNV - 9/10 4
17-7576726-C-CT c.993+126dup - IntronicInsertion - 9/10 1
17-7576739-CTGCCCCCTGATGGCAAA-C c.993+97_993+113del - IntronicDeletion - 9/10 1
17-7576746-CCT-C c.993+106_993+107del - IntronicDeletion - 9/10 1
17-7576753-C-T c.993+100G>A - IntronicSNV - 9/10 1
17-7576781-C-G c.993+72G>C - IntronicSNV - 9/10 1
17-7576781-C-T c.993+72G>A - IntronicSNV - 9/10 1
17-7576787-G-A c.993+66C>T - IntronicSNV - 9/10 1
17-7576792-C-T c.993+61G>A - IntronicSNV - 9/10 1
17-7576793-G-A c.993+60C>T - IntronicSNV - 9/10 1
17-7576794-G-A c.993+59C>T - IntronicSNV - 9/10 1
17-7576802-A-G c.993+51T>C - IntronicSNV - 9/10 1
17-7576804-T-G c.993+49A>C - IntronicSNV - 9/10 1
17-7576805-G-C c.993+48C>G - IntronicSNV - 9/10 1
17-7576807-TAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGA-T c.990_993+45del - SpliceDonorDeletion 9/11 9/10 1
17-7576812-T-A c.993+41A>T - IntronicSNV - 9/10 1
17-7576812-T-C c.993+41A>G - IntronicSNV - 9/10 1
17-7576813-TGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTA-T c.993+2_993+40del - IntronicDeletion - 9/10 1
17-7576817-A-C c.993+36T>G - IntronicSNV - 9/10 1
17-7576818-C-G c.993+35G>C - IntronicSNV - 9/10 1
17-7576818-C-T c.993+35G>A - IntronicSNV - 9/10 1
17-7576825-C-G c.993+28G>C - IntronicSNV - 9/10 1
17-7576825-C-T c.993+28G>A - IntronicSNV - 9/10 1
17-7576829-A-G c.993+24T>C - IntronicSNV - 9/10 1
17-7576831-AAGAGGTCCCAAGACTTAGTACCTG-A c.991_993+21del - SpliceDonorDeletion 9/11 9/10 1
17-7576833-AGAGGTCCCAAGACTTAGTAC-A c.993+1_993+20del - SpliceDonorDeletion - 9/10 1
17-7576834-A-T c.993+19T>A - IntronicSNV - 9/10 1
17-7576835-G-A c.993+18C>T - IntronicSNV - 9/10 1
17-7576836-G-T c.993+17C>A - IntronicSNV - 9/10 1
17-7576836-GTCCCAAGACTTAGTACC-G c.993_993+16del - SpliceDonorDeletion 9/11 9/10 1
17-7576838-C-A c.993+15G>T - IntronicSNV - 9/10 1
17-7576836-GTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCA-G c.972_993+16del - SpliceDonorDeletion 9/11 9/10 1
17-7576840-C-G c.993+13G>C - IntronicSNV - 9/10 3
17-7576839-CCAAGACTTAGTA-C c.993+2_993+13del - IntronicDeletion - 9/10 1
17-7576841-A-G c.993+12T>C - IntronicSNV - 9/10 24
17-7576842-A-G c.993+11T>C - IntronicSNV - 9/10 1
17-7576840-CAAGACTTAGTACCTGAAGGGTG-C c.984_993+12del - SpliceDonorDeletion 9/11 9/10 1
17-7576842-AGACTTAGTACCT-A c.992_993+10del - SpliceDonorDeletion 9/11 9/10 1
17-7576845-C-T c.993+8G>A - IntronicSNV - 9/10 1
17-7576846-T-C c.993+7A>G - IntronicSNV - 9/10 1
17-7576848-A-G c.993+5T>C - IntronicSNV - 9/10 1
17-7576849-AG-A c.993+4del - IntronicDeletion - 9/10 1
17-7576849-G-A c.993+4C>T - IntronicSNV - 9/10 1
17-7576847-TAGTACCTGA-T c.990_993+5del - SpliceDonorDeletion 9/11 9/10 1
17-7576850-GTAC-G c.993+1_993+3del - SpliceDonorDeletion - 9/10 1
17-7576850-T-A c.993+3A>T - IntronicSNV - 9/10 1
17-7576848-AGTACCTGAAGG-A c.987_993+4del - SpliceDonorDeletion 9/11 9/10 1
17-7576851-A-C c.993+2T>G - IntronicSNV - 9/10 21
17-7576851-A-G c.993+2T>C - IntronicSNV - 9/10 25
17-7576851-A-T c.993+2T>A - IntronicSNV - 9/10 8
17-7576851-TA-T c.993+2del - IntronicDeletion - 9/10 1
17-7576850-TACCTGAAGGGTG-T c.984_993+2del - SpliceDonorDeletion 9/11 9/10 1
17-7576852-C-A c.993+1G>T - IntronicSNV - 9/10 53
17-7576852-C-G c.993+1G>C - IntronicSNV - 9/10 30
17-7576852-C-T c.993+1G>A - IntronicSNV - 9/10 82
17-7576851-AC-A c.993+1del - IntronicDeletion 9/11 - 4
17-7576853-C-A c.993G>T p.Q331H Missense 9/11 - 69
17-7576853-CCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGG-C c.935_993del p.T312Nfs*5 InFrameDeletion 9/11 - 2
17-7576853-CCTGA-C c.990_993del p.Q331Sfs*13 SpliceDonorDeletion 9/11 - 3
17-7576853-CCTG-C c.991_993del p.Q331del InFrameDeletion 9/11 - 1
17-7576853-C-G c.993G>C p.Q331H Missense 9/11 - 55
17-7576853-C-T c.993G>A p.Q331= Synonymous 9/11 - 32
17-7576853-CTG-AAA c.991_993delinsTTT p.Q331F Missense 9/11 - 1
17-7576853-CTG-ACA c.991_993delinsTGT p.Q331C Missense 9/11 - 1
17-7576853-CTG-ATA c.991_993delinsTAT p.Q331Y Missense 9/11 - 1
17-7576853-CTG-GAT c.991_993delinsATC p.Q331I Missense 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
17-7576854-CT-C c.992del p.Q331Rfs*14 Frameshift 9/11 - 2
17-7576854-CTG-C c.991_992del p.Q331Dfs*5 SpliceDonorDeletion 9/11 - 1
17-7576854-T-A c.992A>T p.Q331L Missense 9/11 - 4
17-7576854-T-C c.992A>G p.Q331R Missense 9/11 - 45
17-7576854-T-G c.992A>C p.Q331P Missense 9/11 - 12
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-TG-CA c.991_992inv p.Q331W Missense 9/11 - 1
17-7576854-TG-CC c.991_992delinsGG p.Q331G Missense 9/11 - 2
17-7576854-TG-GA c.991_992delinsTC p.Q331S Missense 9/11 - 1
17-7576854-TG-GC c.991_992delinsGC p.Q331A Missense 9/11 - 4
17-7576854-TG-GT c.991_992delinsAC p.Q331T Missense 9/11 - 2
17-7576854-T-TG c.991dup p.Q331Pfs*6 SpliceDonorInsertion 9/11 - 6
17-7576855-G-A c.991C>T p.Q331* Nonsense 9/11 - 199
17-7576855-G-C c.991C>G p.Q331E Missense 9/11 - 5
17-7576855-G-T c.991C>A p.Q331K Missense 9/11 - 6
17-7576855-TG-T c.991del p.Q331Rfs*14 Frameshift 9/11 - 6
17-7576853-CTGAAGGGTGAAATATTCTCCATCCAG-C c.967_992del p.L323Dfs*5 SpliceDonorDeletion 9/11 - 1
17-7576854-TGAA-T c.989_991del p.L330del InFrameDeletion 9/11 - 1
17-7576856-AAG-CAT c.988_990delinsATG p.L330M Missense 9/11 - 3
17-7576856-AAG-CCA c.988_990delinsTGG p.L330W Missense 9/11 - 1
17-7576856-AAG-CTC c.988_990delinsGAG p.L330E Missense 9/11 - 3
17-7576856-AAG-CTT c.988_990inv p.L330K Missense 9/11 - 1
17-7576856-AA-TT c.989_990inv p.L330Q Missense 9/11 - 1
17-7576856-A-C c.990T>G p.L330= Synonymous 9/11 - 3
17-7576856-A-G c.990T>C p.L330= Synonymous 9/11 - 3
17-7576856-A-T c.990T>A p.L330= Synonymous 9/11 - 3
17-7576855-GA-G c.990del p.Q331Rfs*14 Frameshift 9/11 - 6
17-7576855-G-GA c.990dup p.Q331Sfs*6 Frameshift 9/11 - 4
17-7576857-A-C c.989T>G p.L330R Missense 9/11 - 53
17-7576857-A-G c.989T>C p.L330P Missense 9/11 - 31
17-7576857-AG-CA c.988_989delinsTG p.L330C Missense 9/11 - 1
17-7576857-AG-CC c.988_989delinsGG p.L330G Missense 9/11 - 1
17-7576857-AG-CT c.988_989inv p.L330S Missense 9/11 - 1
17-7576857-AG-GC c.988_989delinsGC p.L330A Missense 9/11 - 6
17-7576857-AG-GT c.988_989delinsAC p.L330T Missense 9/11 - 1
17-7576857-AG-TA c.988_989delinsTA p.L330Y Missense 9/11 - 1
17-7576857-AG-TC c.988_989delinsGA p.L330D Missense 9/11 - 1
17-7576857-AG-TT c.988_989delinsAA p.L330N Missense 9/11 - 1
17-7576857-A-T c.989T>A p.L330H Missense 9/11 - 30
17-7576855-GAAGGGTGA-G c.983_990del p.F328Sfs*6 Frameshift 9/11 - 1
17-7576856-AAGGGTGAAAT-A c.980_989del p.Y327Ffs*15 Frameshift 9/11 - 1
17-7576858-AGGGTG-A c.984_988del p.T329Sfs*6 Frameshift 9/11 - 4
17-7576858-G-A c.988C>T p.L330F Missense 9/11 - 12
17-7576858-G-C c.988C>G p.L330V Missense 9/11 - 2
17-7576858-G-T c.988C>A p.L330I Missense 9/11 - 4
17-7576859-G-A c.987C>T p.T329= Synonymous 9/11 - 5
17-7576859-G-C c.987C>G p.T329= Synonymous 9/11 - 3
17-7576859-GGGTGA-G c.983_987del p.F328Sfs*7 Frameshift 9/11 - 1
17-7576859-G-T c.987C>A p.T329= Synonymous 9/11 - 5
17-7576857-AG-A c.988del p.L330Ffs*15 Frameshift 9/11 - 20
17-7576859-G-GGGTGAAAT c.986_987insATTTCACC p.L330Ffs*18 Frameshift 9/11 - 1
17-7576860-G-A c.986C>T p.T329I Missense 9/11 - 17
17-7576860-G-C c.986C>G p.T329S Missense 9/11 - 9
17-7576860-G-T c.986C>A p.T329N Missense 9/11 - 2
17-7576860-GT-AA c.985_986delinsTT p.T329F Missense 9/11 - 1
17-7576861-T-A c.985A>T p.T329S Missense 9/11 - 4
17-7576859-GGT-G c.985_986del p.T329Pfs*7 Frameshift 9/11 - 3
17-7576860-G-GT c.985dup p.T329Nfs*8 Frameshift 9/11 - 2
17-7576861-T-C c.985A>G p.T329A Missense 9/11 - 8
17-7576861-T-G c.985A>C p.T329P Missense 9/11 - 5
17-7576861-T-TA c.984_985insT p.T329Yfs*8 Frameshift 9/11 - 1
17-7576861-T-TG c.984dup p.T329Hfs*8 Frameshift 9/11 - 2
17-7576862-G-A c.984C>T p.F328= Synonymous 9/11 - 5
17-7576862-G-GT c.983_984insA p.F328Lfs*9 Frameshift 9/11 - 2
17-7576862-TG-T c.984del p.F328Lfs*17 Frameshift 9/11 - 1
17-7576859-GGTGAAATATTCTCCATCCA-G c.968_986del p.L323Pfs*16 Frameshift 9/11 - 3
17-7576861-TGAAATATTCTCCATCCAGTG-T c.965_984del p.P322Hfs*8 Frameshift 9/11 - 1
17-7576863-A-C c.983T>G p.F328C Missense 9/11 - 2
17-7576863-A-G c.983T>C p.F328S Missense 9/11 - 9
17-7576863-A-T c.983T>A p.F328Y Missense 9/11 - 2
17-7576862-G-C c.984C>G p.F328L Missense 9/11 - 4
17-7576862-G-T c.984C>A p.F328L Missense 9/11 - 7
17-7576864-A-AT c.981_982insA p.F328Ifs*9 Frameshift 9/11 - 1
17-7576864-A-C c.982T>G p.F328V Missense 9/11 - 10
17-7576864-A-G c.982T>C p.F328L Missense 9/11 - 5
17-7576864-A-T c.982T>A p.F328I Missense 9/11 - 2
17-7576862-GA-G c.983del p.F328Sfs*17 Frameshift 9/11 - 12
17-7576862-G-GA c.983dup p.T329Hfs*8 Frameshift 9/11 - 11
17-7576865-A-C c.981T>G p.Y327* Nonsense 9/11 - 40
17-7576865-A-G c.981T>C p.Y327= Synonymous 9/11 - 2
17-7576865-A-T c.981T>A p.Y327* Nonsense 9/11 - 35
17-7576866-AT-A c.980del p.Y327Ffs*18 Frameshift 9/11 - 4
17-7576866-T-A c.980A>T p.Y327F Missense 9/11 - 4
17-7576866-TA-AG c.979_980delinsCT p.Y327L Missense 9/11 - 1
17-7576866-TA-GC c.979_980delinsGC p.Y327A Missense 9/11 - 3
17-7576866-T-C c.980A>G p.Y327C Missense 9/11 - 5
17-7576866-T-G c.980A>C p.Y327S Missense 9/11 - 6
17-7576864-AAT-A c.980_981del p.Y327Ffs*9 Frameshift 9/11 - 2
17-7576865-ATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTG-A c.933_980del p.T312_Y327del InFrameDeletion 9/11 - 1
17-7576867-A-C c.979T>G p.Y327D Missense 9/11 - 7
17-7576867-A-G c.979T>C p.Y327H Missense 9/11 - 5
17-7576867-A-T c.979T>A p.Y327N Missense 9/11 - 5
17-7576867-TA-T c.979del p.Y327Ifs*18 Frameshift 9/11 - 3
17-7576867-TATTCTCCATC-T c.970_979del p.D324Ifs*18 Frameshift 9/11 - 1
17-7576866-TATTCTCCATCC-T c.969_979del p.D324Ffs*9 Frameshift 9/11 - 2
17-7576868-ATTCTCCATCCAGTGGTTTCTTCTTTGGCTG-A c.949_978del p.Q317_E326del InFrameDeletion 9/11 - 2
17-7576868-T-A c.978A>T p.E326D Missense 9/11 - 6
17-7576868-T-C c.978A>G p.E326= Synonymous 9/11 - 2
17-7576868-T-G c.978A>C p.E326D Missense 9/11 - 7
17-7576867-A-AT c.978dup p.Y327Ifs*10 Frameshift 9/11 - 1
17-7576867-AT-A c.978del p.E326Dfs*19 Frameshift 9/11 - 2
17-7576869-T-A c.977A>T p.E326V Missense 9/11 - 4
17-7576869-T-C c.977A>G p.E326G Missense 9/11 - 8
17-7576869-TC-AG c.976_977delinsCT p.E326L Missense 9/11 - 2
17-7576869-T-G c.977A>C p.E326A Missense 9/11 - 5
17-7576867-ATTCTCCATCCAGTGGTTTCTTCT-A c.956_978del p.K319Ifs*10 Frameshift 9/11 - 1
17-7576869-T-TC c.976dup p.E326Gfs*11 Frameshift 9/11 - 1
17-7576870-C-A c.976G>T p.E326* Nonsense 9/11 - 39
17-7576870-C-CA c.975_976insT p.E326* Nonsense 9/11 - 1
17-7576870-C-CG c.975_976insC p.E326Rfs*11 Frameshift 9/11 - 1
17-7576870-C-G c.976G>C p.E326Q Missense 9/11 - 9
17-7576870-C-T c.976G>A p.E326K Missense 9/11 - 24
17-7576870-TCTCCATCCAGTG-T c.965_976del p.P322_E326delinsQ MultiAAMissense 9/11 - 1
17-7576871-T-A c.975A>T p.G325= Synonymous 9/11 - 1
17-7576871-T-C c.975A>G p.G325= Synonymous 9/11 - 3
17-7576871-TCC-GCT c.973_975delinsAGC p.G325S Missense 9/11 - 1
17-7576871-TC-GT c.974_975delinsAC p.G325D Missense 9/11 - 1
17-7576871-T-G c.975A>C p.G325= Synonymous 9/11 - 1
17-7576867-ATTCTCCATCCAGTGGTTTC-A c.960_978del p.K320Nfs*19 Frameshift 9/11 - 1
17-7576872-C-A c.974G>T p.G325V Missense 9/11 - 20
17-7576872-C-G c.974G>C p.G325A Missense 9/11 - 11
17-7576872-C-T c.974G>A p.G325E Missense 9/11 - 20
17-7576871-T-TC c.974dup p.E326Rfs*11 Frameshift 9/11 - 1
17-7576873-C-A c.973G>T p.G325* Nonsense 9/11 - 33
17-7576873-C-G c.973G>C p.G325R Missense 9/11 - 4
17-7576873-C-T c.973G>A p.G325R Missense 9/11 - 8
17-7576863-A-AAATATTCTCCACC c.982_983insGGTGGAGAATATT p.F328Wfs*13 Frameshift 9/11 - 1
17-7576873-C-CA c.972dup p.G325Wfs*12 Frameshift 9/11 - 1
17-7576874-A-C c.972T>G p.D324E Missense 9/11 - 7
17-7576874-A-G c.972T>C p.D324= Synonymous 9/11 - 2
17-7576874-A-T c.972T>A p.D324E Missense 9/11 - 7
17-7576874-CA-C c.972del p.D324Efs*21 Frameshift 9/11 - 1
17-7576870-CTCCA-C c.972_975del p.D324Efs*20 Frameshift 9/11 - 1
17-7576874-A-AT c.971dup p.D324Efs*13 Frameshift 9/11 - 1
17-7576875-AT-A c.971del p.D324Vfs*21 Frameshift 9/11 - 1
17-7576875-ATCC-A c.969_971del p.D324del InFrameDeletion 9/11 - 1
17-7576875-ATCCAGTGGTTTCTTCTTTG-A c.953_971del p.P318Lfs*21 Frameshift 9/11 - 2
17-7576875-T-A c.971A>T p.D324V Missense 9/11 - 2
17-7576875-T-C c.971A>G p.D324G Missense 9/11 - 9
17-7576875-TC-CT c.970_971delinsAG p.D324S Missense 9/11 - 4
17-7576875-T-G c.971A>C p.D324A Missense 9/11 - 7
17-7576876-C-A c.970G>T p.D324Y Missense 9/11 - 9
17-7576876-C-CA c.969_970insT p.D324* Nonsense 9/11 - 3
17-7576876-C-G c.970G>C p.D324H Missense 9/11 - 11
17-7576876-C-T c.970G>A p.D324N Missense 9/11 - 12
17-7576874-ATCCAGTGGTTTCT-A c.959_971del p.K320Mfs*21 Frameshift 9/11 - 1
17-7576875-TC-T c.970del p.D324Mfs*21 Frameshift 9/11 - 1
17-7576875-T-TC c.970dup p.D324Gfs*13 Frameshift 9/11 - 1
17-7576877-C-A c.969G>T p.L323= Synonymous 9/11 - 2
17-7576877-CAG-GAT c.967_969delinsATC p.L323I Missense 9/11 - 1
17-7576877-C-G c.969G>C p.L323= Synonymous 9/11 - 2
17-7576877-C-T c.969G>A p.L323= Synonymous 9/11 - 4
17-7576879-G-A c.967C>T p.L323= Synonymous 9/11 - 5
17-7576877-C-CA c.968dup p.D324Gfs*13 Frameshift 9/11 - 1
17-7576878-A-C c.968T>G p.L323R Missense 9/11 - 7
17-7576878-A-G c.968T>C p.L323P Missense 9/11 - 7
17-7576878-AG-CC c.967_968delinsGG p.L323G Missense 9/11 - 4
17-7576878-AG-GC c.967_968delinsGC p.L323A Missense 9/11 - 2
17-7576878-A-T c.968T>A p.L323Q Missense 9/11 - 2
17-7576878-CAGTGGTTTCT-C c.959_968del p.K320Rfs*22 Frameshift 9/11 - 1
17-7576878-A-AG c.967dup p.L323Pfs*14 Frameshift 9/11 - 1
17-7576879-G-C c.967C>G p.L323V Missense 9/11 - 9
17-7576879-G-T c.967C>A p.L323M Missense 9/11 - 7
17-7576877-CAGTGGTTTCTTCTTTGGCTGGGGAG-C c.944_968del p.S315Wfs*22 Frameshift 9/11 - 1
17-7576878-AGT-A c.966_967del p.L323Gfs*13 Frameshift 9/11 - 2
17-7576879-G-GT c.966dup p.L323Tfs*14 Frameshift 9/11 - 1
17-7576880-T-A c.966A>T p.P322= Synonymous 9/11 - 3
17-7576880-T-C c.966A>G p.P322= Synonymous 9/11 - 3
17-7576880-T-G c.966A>C p.P322= Synonymous 9/11 - 2
17-7576880-TG-AT c.965_966delinsAT p.P322H Missense 9/11 - 1
17-7576879-GTGGTTTC-G c.960_966del p.K320Nfs*23 Frameshift 9/11 - 2
17-7576879-GTGGTTTCT-G c.959_966del p.K320Tfs*14 Frameshift 9/11 - 1
17-7576881-G-A c.965C>T p.P322L Missense 9/11 - 12
17-7576881-G-C c.965C>G p.P322R Missense 9/11 - 7
17-7576881-GG-TT c.964_965delinsAA p.P322K Missense 9/11 - 1
17-7576881-G-T c.965C>A p.P322Q Missense 9/11 - 4
17-7576876-CCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGG-C c.925_969del p.P309_L323del InFrameDeletion 9/11 - 1
17-7576880-TG-T c.965del p.P322Hfs*23 Frameshift 9/11 - 11
17-7576880-T-TG c.965dup p.L323Tfs*14 Frameshift 9/11 - 2
17-7576882-G-A c.964C>T p.P322S Missense 9/11 - 11
17-7576882-G-C c.964C>G p.P322A Missense 9/11 - 2
17-7576882-G-T c.964C>A p.P322T Missense 9/11 - 6
17-7576883-GTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCA-G c.923_963del p.L308Pfs*15 Frameshift 9/11 - 1
17-7576883-T-A c.963A>T p.K321N Missense 9/11 - 1
17-7576883-T-C c.963A>G p.K321= Synonymous 9/11 - 5
17-7576883-T-G c.963A>C p.K321N Missense 9/11 - 1
17-7576879-GTGGTTTCTTCTTTGGCTGGGGAGAGGAGC-G c.938_966del p.S313Tfs*14 Frameshift 9/11 - 1
17-7576884-T-A c.962A>T p.K321I Missense 9/11 - 1
17-7576884-T-C c.962A>G p.K321R Missense 9/11 - 8
17-7576884-T-G c.962A>C p.K321T Missense 9/11 - 4
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-G-GT c.963dup p.P322Tfs*15 Frameshift 9/11 - 3
17-7576882-GT-G c.963del p.K321Nfs*24 Frameshift 9/11 - 11
17-7576885-T-A c.961A>T p.K321* Nonsense 9/11 - 27
17-7576885-T-C c.961A>G p.K321E Missense 9/11 - 7
17-7576885-T-G c.961A>C p.K321Q Missense 9/11 - 4
17-7576885-T-TA c.960_961insT p.K321* Nonsense 9/11 - 2
17-7576885-TTCTTCTTTGGCTGGGGAGA-T c.943_961del p.S315Nfs*24 Frameshift 9/11 - 1
17-7576884-TTC-T c.960_961del p.K321Tfs*15 Frameshift 9/11 - 1
17-7576884-TTCTTCTTTGGC-T c.951_961del p.P318Tfs*15 Frameshift 9/11 - 2
17-7576885-T-TC c.960dup p.K321Efs*16 Frameshift 9/11 - 1
17-7576886-C-A c.960G>T p.K320N Missense 9/11 - 18
17-7576886-C-CG c.959_960insC p.K320Nfs*17 Frameshift 9/11 - 1
17-7576886-C-G c.960G>C p.K320N Missense 9/11 - 29
17-7576886-C-T c.960G>A p.K320= Synonymous 9/11 - 9
17-7576886-TC-T c.960del p.K321Nfs*24 Frameshift 9/11 - 4
17-7576886-TCTTCTTTGGCTGGGGAGAG-T c.942_960del p.S315Nfs*24 Frameshift 9/11 - 1
17-7576887-CTTCTTTGG-C c.952_959del p.P318Efs*16 Frameshift 9/11 - 1
17-7576887-CTTCTTTGGCTGGGGAG-C c.944_959del p.S315* Frameshift 9/11 - 2
17-7576887-T-A c.959A>T p.K320M Missense 9/11 - 3
17-7576887-T-C c.959A>G p.K320R Missense 9/11 - 25
17-7576887-T-G c.959A>C p.K320T Missense 9/11 - 2
17-7576887-TT-GC c.958_959delinsGC p.K320A Missense 9/11 - 5
17-7576886-C-CT c.959dup p.K321Efs*16 Frameshift 9/11 - 1
17-7576886-CT-C c.959del p.K320Rfs*25 Frameshift 9/11 - 4
17-7576888-T-A c.958A>T p.K320* Nonsense 9/11 - 24
17-7576888-T-C c.958A>G p.K320E Missense 9/11 - 6
17-7576888-TCTTTG-C c.953_958delinsG p.P318Rfs*17 Frameshift 9/11 - 1
17-7576888-T-G c.958A>C p.K320Q Missense 9/11 - 18
17-7576888-T-TA c.957_958insT p.K320* Nonsense 9/11 - 4
17-7576888-TTCTTTGGCTGGGGAGAGGA-T c.940_958del p.S314Rfs*25 Frameshift 9/11 - 1
17-7576888-TTCTTTGGCTGGGGAGAGG-T c.941_958del p.S314_K320delins* MultiAAMissense 9/11 - 2
17-7576888-TTCTTTGGCTG-T c.949_958del p.Q317Rfs*25 Frameshift 9/11 - 1
17-7576888-T-TG c.957_958insC p.K320Qfs*17 Frameshift 9/11 - 1
17-7576883-TTTC-T c.960_962del p.K321del InFrameDeletion 9/11 - 4
17-7576887-TTC-T c.957_958del p.K320Efs*16 Frameshift 9/11 - 1
17-7576888-T-TC c.957dup p.K320Efs*17 Frameshift 9/11 - 1
17-7576889-C-A c.957G>T p.K319N Missense 9/11 - 13
17-7576889-C-CA c.956_957insT p.K319Nfs*18 Frameshift 9/11 - 1
17-7576889-C-G c.957G>C p.K319N Missense 9/11 - 13
17-7576889-C-T c.957G>A p.K319= Synonymous 9/11 - 5
17-7576889-TC-T c.957del p.K320Rfs*25 Frameshift 9/11 - 4
17-7576890-CTTTGGCTGGGG-C c.946_956del p.P316Efs*17 Frameshift 9/11 - 1
17-7576890-T-A c.956A>T p.K319M Missense 9/11 - 1
17-7576890-T-C c.956A>G p.K319R Missense 9/11 - 14
17-7576890-T-G c.956A>C p.K319T Missense 9/11 - 4
17-7576890-TT-AG c.955_956delinsCT p.K319L Missense 9/11 - 1
17-7576890-TT-GC c.955_956delinsGC p.K319A Missense 9/11 - 7
17-7576890-T-TTCGG c.955_956insCCGA p.K319Tfs*19 Frameshift 9/11 - 1
17-7576891-T-A c.955A>T p.K319* Nonsense 9/11 - 26
17-7576891-T-C c.955A>G p.K319E Missense 9/11 - 9
17-7576891-T-G c.955A>C p.K319Q Missense 9/11 - 1
17-7576891-T-TA c.954_955insT p.K319* Nonsense 9/11 - 2
17-7576891-TTTGGCTGGGGAGAG-T c.942_955del p.S315Efs*17 Frameshift 9/11 - 1
17-7576889-C-CT c.956dup p.K320Efs*17 Frameshift 9/11 - 1
17-7576889-CT-C c.956del p.K319Rfs*26 Frameshift 9/11 - 9
17-7576892-T-G c.954A>C p.P318= Synonymous 9/11 - 1
17-7576892-TTGGCTGGGGAGAG-T c.942_954del p.S315Rfs*26 Frameshift 9/11 - 1
17-7576892-TTG-T c.953_954del p.P318Qfs*18 Frameshift 9/11 - 1
17-7576893-G-A c.953C>T p.P318L Missense 9/11 - 10
17-7576893-G-C c.953C>G p.P318R Missense 9/11 - 1
17-7576893-G-GC c.952_953insG p.P318Rfs*19 Frameshift 9/11 - 1
17-7576893-G-T c.953C>A p.P318Q Missense 9/11 - 2
17-7576891-T-TTGGTGGGGAGAGGAGC c.954_955insGCTCCTCTCCCCACCA p.K319Afs*23 Frameshift 9/11 - 1
17-7576892-T-TG c.953dup p.K320Efs*17 Frameshift 9/11 - 1
17-7576894-G-A c.952C>T p.P318S Missense 9/11 - 6
17-7576894-G-C c.952C>G p.P318A Missense 9/11 - 8
17-7576894-G-GT c.951_952insA p.P318Tfs*19 Frameshift 9/11 - 2
17-7576894-G-T c.952C>A p.P318T Missense 9/11 - 2
17-7576891-TTGGC-T c.951_954del p.P318Rfs*26 Frameshift 9/11 - 1
17-7576894-G-GC c.951dup p.P318Afs*19 Frameshift 9/11 - 2
17-7576895-C-A c.951G>T p.Q317H Missense 9/11 - 9
17-7576895-C-G c.951G>C p.Q317H Missense 9/11 - 7
17-7576895-C-T c.951G>A p.Q317= Synonymous 9/11 - 1
17-7576895-GC-G c.951del p.Q317Hfs*28 Frameshift 9/11 - 2
17-7576896-CT-C c.950del p.Q317Rfs*28 Frameshift 9/11 - 7
17-7576896-CTG-C c.949_950del p.Q317Afs*19 Frameshift 9/11 - 1
17-7576896-CTGGGG-C c.946_950del p.P316Afs*19 Frameshift 9/11 - 2
17-7576896-T-A c.950A>T p.Q317L Missense 9/11 - 4
17-7576896-T-C c.950A>G p.Q317R Missense 9/11 - 26
17-7576896-T-G c.950A>C p.Q317P Missense 9/11 - 10
17-7576896-TG-GC c.949_950delinsGC p.Q317A Missense 9/11 - 2
17-7576897-G-A c.949C>T p.Q317* Nonsense 9/11 - 175
17-7576897-G-C c.949C>G p.Q317E Missense 9/11 - 3
17-7576897-G-T c.949C>A p.Q317K Missense 9/11 - 25
17-7576898-G-A c.948C>T p.P316= Synonymous 9/11 - 6
17-7576898-G-C c.948C>G p.P316= Synonymous 9/11 - 2
17-7576898-GG-A c.947_948delinsT p.P316Lfs*29 Frameshift 9/11 - 1
17-7576898-G-T c.948C>A p.P316= Synonymous 9/11 - 2
17-7576899-G-A c.947C>T p.P316L Missense 9/11 - 25
17-7576899-G-C c.947C>G p.P316R Missense 9/11 - 3
17-7576899-G-GA c.946_947insT p.P316Lfs*21 Frameshift 9/11 - 2
17-7576899-G-T c.947C>A p.P316H Missense 9/11 - 3
17-7576896-TG-T c.949del p.Q317Sfs*28 Frameshift 9/11 - 19
17-7576896-T-TG c.949dup p.Q317Pfs*20 Frameshift 9/11 - 9
17-7576898-GGGAGAGGAGCTGGT-G c.934_947del p.T312Pfs*20 Frameshift 9/11 - 1
17-7576900-G-A c.946C>T p.P316S Missense 9/11 - 7
17-7576900-G-C c.946C>G p.P316A Missense 9/11 - 2
17-7576900-G-T c.946C>A p.P316T Missense 9/11 - 10
17-7576899-GGAGAGGAGCT-G c.937_946del p.S313Pfs*29 Frameshift 9/11 - 1
17-7576900-G-GA c.945dup p.P316Sfs*21 Frameshift 9/11 - 8
17-7576901-A-C c.945T>G p.S315= Synonymous 9/11 - 3
17-7576901-A-G c.945T>C p.S315= Synonymous 9/11 - 2
17-7576901-AG-TT c.944_945delinsAA p.S315* Nonsense 9/11 - 1
17-7576901-A-T c.945T>A p.S315= Synonymous 9/11 - 3
17-7576901-GA-G c.945del p.Q317Sfs*28 Frameshift 9/11 - 6
17-7576902-AG-A c.944del p.S315Ffs*30 Frameshift 9/11 - 1
17-7576902-G-A c.944C>T p.S315F Missense 9/11 - 14
17-7576902-GA-AG c.943_944delinsCT p.S315L Missense 9/11 - 3
17-7576902-GA-AT c.943_944delinsAT p.S315I Missense 9/11 - 1
17-7576902-GA-TC c.943_944inv p.S315D Missense 9/11 - 4
17-7576902-G-C c.944C>G p.S315C Missense 9/11 - 14
17-7576902-G-T c.944C>A p.S315Y Missense 9/11 - 3
17-7576898-GGGAGA-G c.943_947del p.S315Pfs*20 Frameshift 9/11 - 1
17-7576899-GGA-G c.945_946del p.Q317Afs*19 Frameshift 9/11 - 9
17-7576903-A-C c.943T>G p.S315A Missense 9/11 - 29
17-7576903-A-G c.943T>C p.S315P Missense 9/11 - 12
17-7576903-A-T c.943T>A p.S315T Missense 9/11 - 10
17-7576903-GA-G c.943del p.S315Lfs*30 Frameshift 9/11 - 2
17-7576903-GAGGA-G c.940_943del p.S314Lfs*30 Frameshift 9/11 - 1
17-7576904-G-A c.942C>T p.S314= Synonymous 9/11 - 2
17-7576904-G-C c.942C>G p.S314= Synonymous 9/11 - 1
17-7576904-GG-TT c.941_942delinsAA p.S314* Nonsense 9/11 - 2
17-7576904-G-T c.942C>A p.S314= Synonymous 9/11 - 3
17-7576903-AG-A c.942del p.S315Lfs*30 Frameshift 9/11 - 2
17-7576905-G-A c.941C>T p.S314F Missense 9/11 - 14
17-7576905-G-C c.941C>G p.S314C Missense 9/11 - 3
17-7576905-G-T c.941C>A p.S314Y Missense 9/11 - 1
17-7576905-G-GA c.940dup p.S314Ffs*23 Frameshift 9/11 - 1
17-7576906-A-C c.940T>G p.S314A Missense 9/11 - 6
17-7576906-A-G c.940T>C p.S314P Missense 9/11 - 3
17-7576906-GA-G c.940del p.S314Pfs*31 Frameshift 9/11 - 2
17-7576907-G-A c.939C>T p.S313= Synonymous 9/11 - 1
17-7576907-G-C c.939C>G p.S313R Missense 9/11 - 3
17-7576907-GCT-TCA c.937_939delinsTGA p.S313* Nonsense 9/11 - 3
17-7576907-G-GT c.938_939insA p.S313Rfs*24 Frameshift 9/11 - 1
17-7576907-G-T c.939C>A p.S313R Missense 9/11 - 4
17-7576906-A-AGCCACG c.939_940insCGTGGC p.S313_S314insRG InFrameInsertion 9/11 - 1
17-7576908-C-A c.938G>T p.S313I Missense 9/11 - 7
17-7576908-C-G c.938G>C p.S313T Missense 9/11 - 4
17-7576908-C-T c.938G>A p.S313N Missense 9/11 - 10
17-7576908-CT-AG c.937_938inv p.S313L Missense 9/11 - 4
17-7576908-CT-GC c.937_938delinsGC p.S313A Missense 9/11 - 1
17-7576908-CT-GG c.937_938delinsCC p.S313P Missense 9/11 - 2
17-7576908-GC-G c.938del p.S313Tfs*32 Frameshift 9/11 - 3
17-7576908-C-CT c.937dup p.S313Kfs*24 Frameshift 9/11 - 2
17-7576909-CT-C c.937del p.S313Afs*32 Frameshift 9/11 - 3
17-7576909-T-A c.937A>T p.S313C Missense 9/11 - 6
17-7576909-T-C c.937A>G p.S313G Missense 9/11 - 7
17-7576909-T-G c.937A>C p.S313R Missense 9/11 - 4
17-7576909-T-TA c.936_937insT p.S313* Nonsense 9/11 - 3
17-7576908-CTGGTG-C c.933_937del p.N311Kfs*24 Frameshift 9/11 - 2
17-7576909-T-TGCCCAC c.936_937insGTGGGC p.T312_S313insVG InFrameInsertion 9/11 - 1
17-7576910-G-A c.936C>T p.T312= Synonymous 9/11 - 4
17-7576910-G-C c.936C>G p.T312= Synonymous 9/11 - 2
17-7576910-GG-CA c.935_936delinsTG p.T312M Missense 9/11 - 2
17-7576910-GG-CC c.935_936inv p.T312R Missense 9/11 - 1
17-7576910-G-T c.936C>A p.T312= Synonymous 9/11 - 2
17-7576909-TG-T c.936del p.S313Afs*32 Frameshift 9/11 - 5
17-7576909-T-TG c.936dup p.S313Qfs*24 Frameshift 9/11 - 1
17-7576910-G-GGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGT c.935_936insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC p.S313Lfs*45 Frameshift 9/11 - 1
17-7576911-G-A c.935C>T p.T312I Missense 9/11 - 13
17-7576911-G-C c.935C>G p.T312S Missense 9/11 - 26
17-7576911-G-T c.935C>A p.T312N Missense 9/11 - 3
17-7576911-GT-TA c.934_935delinsTA p.T312Y Missense 9/11 - 1
17-7576911-G-GT c.934dup p.T312Nfs*25 Frameshift 9/11 - 1
17-7576912-GT-G c.934del p.T312Pfs*33 Frameshift 9/11 - 2
17-7576912-T-A c.934A>T p.T312S Missense 9/11 - 12
17-7576912-T-C c.934A>G p.T312A Missense 9/11 - 13
17-7576912-T-G c.934A>C p.T312P Missense 9/11 - 2
17-7576910-GGT-G c.934_935del p.T312Qfs*24 Frameshift 9/11 - 2
17-7576913-G-A c.933C>T p.N311= Synonymous 9/11 - 3
17-7576913-G-C c.933C>G p.N311K Missense 9/11 - 8
17-7576913-G-T c.933C>A p.N311K Missense 9/11 - 5
17-7576913-GT-CC c.932_933delinsGG p.N311R Missense 9/11 - 1
17-7576913-GTT-TTG c.931_933delinsCAA p.N311Q Missense 9/11 - 1
17-7576913-TG-T c.933del p.N311Kfs*34 Frameshift 9/11 - 7
17-7576912-TGTTGTTGG-T c.926_933del p.P309Hfs*25 Frameshift 9/11 - 1
17-7576912-TGTTGTTG-T c.927_933del p.N310Pfs*33 Frameshift 9/11 - 1
17-7576914-T-A c.932A>T p.N311I Missense 9/11 - 2
17-7576914-T-C c.932A>G p.N311S Missense 9/11 - 11
17-7576914-T-G c.932A>C p.N311T Missense 9/11 - 8
17-7576914-TT-CC c.931_932delinsGG p.N311G Missense 9/11 - 2
17-7576914-TT-GC c.931_932delinsGC p.N311A Missense 9/11 - 2
17-7576913-G-GT c.932dup p.N311Kfs*26 Frameshift 9/11 - 3
17-7576913-GT-G c.932del p.N311Tfs*34 Frameshift 9/11 - 2
17-7576915-T-A c.931A>T p.N311Y Missense 9/11 - 4
17-7576915-T-C c.931A>G p.N311D Missense 9/11 - 6
17-7576915-T-G c.931A>C p.N311H Missense 9/11 - 10
17-7576915-T-TA c.930_931insT p.N311* Nonsense 9/11 - 2
17-7576915-T-TG c.930dup p.N311Qfs*26 Frameshift 9/11 - 1
17-7576916-G-A c.930C>T p.N310= Synonymous 9/11 - 2
17-7576916-G-C c.930C>G p.N310K Missense 9/11 - 7
17-7576916-G-GA c.929_930insT p.N311Qfs*26 Frameshift 9/11 - 2
17-7576916-G-GC c.929_930insG p.N310Kfs*27 Frameshift 9/11 - 1
17-7576916-G-T c.930C>A p.N310K Missense 9/11 - 7
17-7576916-GTT-TTA c.928_930delinsTAA p.N310* Nonsense 9/11 - 1
17-7576916-TG-T c.930del p.N310Kfs*35 Frameshift 9/11 - 3
17-7576911-GTGT-G c.932_934del p.N311del InFrameDeletion 9/11 - 1
17-7576917-T-A c.929A>T p.N310I Missense 9/11 - 3
17-7576917-T-C c.929A>G p.N310S Missense 9/11 - 6
17-7576917-T-G c.929A>C p.N310T Missense 9/11 - 11
17-7576917-TT-AG c.928_929delinsCT p.N310L Missense 9/11 - 3
17-7576917-TT-CA c.928_929delinsTG p.N310C Missense 9/11 - 1
17-7576916-G-GT c.929dup p.N310Kfs*27 Frameshift 9/11 - 7
17-7576916-GT-G c.929del p.N310Tfs*35 Frameshift 9/11 - 6
17-7576918-T-A c.928A>T p.N310Y Missense 9/11 - 1
17-7576918-T-C c.928A>G p.N310D Missense 9/11 - 11
17-7576918-T-G c.928A>C p.N310H Missense 9/11 - 4
17-7576918-T-TA c.927_928insT p.N310* Nonsense 9/11 - 5
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 - 6
17-7576919-G-C c.927C>G p.P309= Synonymous 9/11 - 2
17-7576919-GG-TT c.926_927delinsAA p.P309Q Missense 9/11 - 1
17-7576919-G-T c.927C>A p.P309= Synonymous 9/11 - 6
17-7576919-TGGGCAGTG-T c.920_927del p.A307Efs*27 SpliceAcceptorDeletion 9/11 - 1
17-7576917-TTGGGCAG-T c.922_928del p.L308Tfs*35 SpliceAcceptorDeletion 9/11 - 1
17-7576920-G-A c.926C>T p.P309L Missense 9/11 - 4
17-7576920-G-C c.926C>G p.P309R Missense 9/11 - 6
17-7576920-GG-AA c.925_926delinsTT p.P309F Missense 9/11 - 1
17-7576920-G-T c.926C>A p.P309H Missense 9/11 - 3
17-7576918-TG-T c.927del p.N310Tfs*35 Frameshift 9/11 - 12
17-7576918-T-TG c.927dup p.N310Qfs*27 Frameshift 9/11 - 3
17-7576921-G-A c.925C>T p.P309S Missense 9/11 - 109
17-7576921-G-C c.925C>G p.P309A Missense 9/11 - 5
17-7576921-G-T c.925C>A p.P309T Missense 9/11 - 4
17-7576922-C-A c.924G>T p.L308= Synonymous 9/11 - 2
17-7576922-CAG-GTT c.922_924delinsAAC p.L308N Missense 9/11 - 1
17-7576922-C-G c.924G>C p.L308= Synonymous 9/11 - 3
17-7576922-C-T c.924G>A p.L308= Synonymous 9/11 - 3
17-7576922-GCA-G c.923_924del p.L308Pfs*28 Frameshift 9/11 - 3
17-7576922-GC-G c.924del p.N310Tfs*35 Frameshift 9/11 - 2
17-7576923-A-C c.923T>G p.L308R Missense 9/11 - 1
17-7576923-A-G c.923T>C p.L308P Missense 9/11 - 6
17-7576923-A-T c.923T>A p.L308Q Missense 9/11 - 4
17-7576923-CA-C c.923del p.L308Rfs*37 Frameshift 9/11 - 1
17-7576923-CAG-C c.922_923del p.L308Afs*28 Frameshift 9/11 - 3
17-7576923-A-AG c.922dup p.L308Pfs*29 Frameshift 9/11 - 6
17-7576924-AGTG-A c.920_922del p.A307_L308delinsV SpliceAcceptorDeletion 9/11 - 3
17-7576924-G-A c.922C>T p.L308= Synonymous 9/11 - 3
17-7576924-G-C c.922C>G p.L308V Missense 9/11 - 9
17-7576924-G-GA c.921_922insT p.L308Sfs*29 SpliceAcceptorInsertion 9/11 - 7
17-7576924-G-GC c.921_922insG p.L308Afs*29 SpliceAcceptorInsertion 9/11 - 7
17-7576924-G-T c.922C>A p.L308M Missense 9/11 - 5
17-7576923-AGT-A c.921_922del p.L308Afs*28 SpliceAcceptorDeletion 9/11 - 4
17-7576924-G-GT c.921dup p.L308Tfs*29 SpliceAcceptorInsertion 9/11 - 8
17-7576925-T-A c.921A>T p.A307= Synonymous 9/11 - 2
17-7576925-T-C c.921A>G p.A307= Synonymous 9/11 - 4
17-7576925-T-G c.921A>C p.A307= Synonymous 9/11 - 2
17-7576925-TG-GT c.920_921delinsAC p.A307D Missense 9/11 - 1
17-7576925-T-TA c.920_921insT p.L308Tfs*29 SpliceAcceptorInsertion 9/11 - 1
17-7576924-G-GTGATAGGAAAGAGGC c.921_922insGCCTCTTTCCTATCA p.A307_L308insASFLS SpliceAcceptorInsertion - - 1
17-7576926-G-A c.920C>T p.A307V Missense 9/11 - 19
17-7576926-G-C c.920C>G p.A307G Missense 9/11 - 3
17-7576926-G-T c.920C>A p.A307E Missense 9/11 - 1
17-7576926-TG-T c.920del p.A307Dfs*38 Frameshift 9/11 - 2
17-7576927-C-A c.920-1G>T - IntronicSNV - 8/10 8
17-7576927-C-G c.920-1G>C - IntronicSNV - 8/10 8
17-7576927-C-T c.920-1G>A - IntronicSNV - 8/10 9
17-7576921-G-GCAGTGCTCAA c.924_925insTTGAGCACTG - Frameshift - 8/10 1
17-7576928-T-A c.920-2A>T - IntronicSNV - 8/10 1
17-7576928-T-C c.920-2A>G - IntronicSNV - 8/10 8
17-7576931-G-A c.920-5C>T - IntronicSNV - 8/10 6
17-7576931-G-T c.920-5C>A - IntronicSNV - 8/10 6
17-7576935-G-A c.920-9C>T - IntronicSNV - 8/10 1
17-7576939-C-A c.920-13G>T - IntronicSNV - 8/10 1
17-7576939-C-G c.920-13G>C - IntronicSNV - 8/10 1
17-7576939-C-T c.920-13G>A - IntronicSNV - 8/10 1
17-7576940-A-G c.920-14T>C - IntronicSNV - 8/10 1
17-7576943-G-T c.920-17C>A - IntronicSNV - 8/10 1
17-7576948-G-A c.920-22C>T - IntronicSNV - 8/10 1
17-7576948-G-T c.920-22C>A - IntronicSNV - 8/10 1
17-7576953-A-G c.920-27T>C - IntronicSNV - 8/10 1
17-7576964-T-C c.920-38A>G - IntronicSNV - 8/10 1
17-7576965-G-A c.920-39C>T - IntronicSNV - 8/10 1
17-7576975-T-A c.919+44A>T - IntronicSNV - 8/10 1
17-7576975-T-C c.919+44A>G - IntronicSNV - 8/10 1
17-7576981-C-G c.919+38G>C - IntronicSNV - 8/10 1
17-7576983-T-C c.919+36A>G - IntronicSNV - 8/10 1
17-7576985-G-A c.919+34C>T - IntronicSNV - 8/10 1
17-7576987-C-T c.919+32G>A - IntronicSNV - 8/10 2
17-7576988-T-C c.919+31A>G - IntronicSNV - 8/10 1
17-7576986-TCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCC-T c.905_919+32del - SpliceDonorDeletion 8/11 8/10 1
17-7576993-C-T c.919+26G>A - IntronicSNV - 8/10 1
17-7576996-C-T c.919+23G>A - IntronicSNV - 8/10 1
17-7576997-G-A c.919+22C>T - IntronicSNV - 8/10 1
17-7576997-GCTTCTTGTCCTGCTTGCTTAC-G c.919+1_919+21del - SpliceDonorDeletion 8/11 8/10 1
17-7577000-T-C c.919+19A>G - IntronicSNV - 8/10 1
17-7576995-CCGCTTCTTGTCCTGCTTGCTTACCT-C c.918_919+23del - SpliceDonorDeletion 8/11 8/10 1
17-7576997-GCTT-G c.919+19_919+21del - IntronicDeletion - 8/10 1
17-7577001-C-T c.919+18G>A - IntronicSNV - 8/10 1
17-7577002-T-C c.919+17A>G - IntronicSNV - 8/10 2
17-7577004-G-C c.919+15C>G - IntronicSNV - 8/10 2
17-7577006-C-A c.919+13G>T - IntronicSNV - 8/10 1
17-7577005-TC-T c.919+13del - IntronicDeletion - 8/10 1
17-7577005-TCCTGCTTGCTTA-T c.919+2_919+13del - IntronicDeletion 8/11 8/10 1
17-7577009-TGCTTGCTTA-T c.919+2_919+10del - IntronicDeletion - 8/10 2
17-7577005-TCCTGCTTGCTTACCTCGCTTAGTGCTC-T c.906_919+13del - SpliceDonorDeletion 8/11 8/10 1
17-7577010-C-T c.919+9G>A - IntronicSNV - 8/10 2
17-7577011-T-G c.919+8A>C - IntronicSNV - 8/10 1
17-7577012-T-G c.919+7A>C - IntronicSNV - 8/10 4
17-7577008-TGCTTGCTTACCTC-T c.917_919+10del - SpliceDonorDeletion 8/11 8/10 3
17-7577014-C-G c.919+5G>C - IntronicSNV - 8/10 2
17-7577014-GCTTACCTCGCTT-G c.913_919+5del - SpliceDonorDeletion 8/11 8/10 1
17-7577016-T-C c.919+3A>G - IntronicSNV - 8/10 1
17-7577017-A-C c.919+2T>G - IntronicSNV - 8/10 7
17-7577017-A-T c.919+2T>A - IntronicSNV - 8/10 7
17-7577017-TA-T c.919+2del - IntronicDeletion - 8/10 2
17-7577012-TGCTTACCTC-T c.917_919+6del - SpliceDonorDeletion 8/11 8/10 2
17-7577018-C-A c.919+1G>T - IntronicSNV - 8/10 39
17-7577018-C-G c.919+1G>C - IntronicSNV - 8/10 13
17-7577018-C-T c.919+1G>A - IntronicSNV - 8/10 52
17-7577017-A-AC c.919+1dup - SpliceDonorInsertion 8/11 - 1
17-7577017-AC-A c.919+1del - Frameshift 8/11 - 5
17-7577017-ACCT-A c.918_919+1del - SpliceDonorDeletion 8/11 - 1
17-7577017-ACCTCGCTTAGTGCTCCCTGGGGGCAG-A c.895_919+1del - SpliceDonorDeletion 8/11 - 1
17-7577019-C-A c.919G>T p.A307S Missense 8/11 - 7
17-7577019-C-CA c.918_919insT p.A307Cfs*30 SpliceDonorInsertion 8/11 - 3
17-7577019-C-CG c.918_919insC p.A307Rfs*30 SpliceDonorInsertion 8/11 - 3
17-7577019-CCTCGCT-C c.914_919del p.K305_A307delinsT SpliceDonorDeletion 8/11 - 1
17-7577019-C-G c.919G>C p.A307P Missense 8/11 - 2
17-7577019-C-T c.919G>A p.A307T Missense 8/11 - 9
17-7577018-CCT-C c.918_919del p.A307Tfs*29 SpliceDonorDeletion 8/11 - 2
17-7577018-CCTCGCTTAGTGCTCCCTGGGGG-C c.898_919del p.P300Hfs*38 SpliceDonorDeletion 8/11 - 1
17-7577019-C-CT c.918dup p.A307Sfs*30 SpliceDonorInsertion 8/11 - 3
17-7577019-C-CTGTG c.918_919insCACA p.A307Hfs*31 SpliceDonorInsertion 8/11 - 1
17-7577020-TC-AT c.917_918delinsAT p.R306H Missense 8/11 - 4
17-7577020-TCG-ACA c.916_918delinsTGT p.R306C Missense 8/11 - 9
17-7577020-TCG-CCA c.916_918delinsTGG p.R306W Missense 8/11 - 1
17-7577020-TCG-GCT c.916_918delinsAGC p.R306S Missense 8/11 - 1
17-7577020-TCG-GTT c.916_918delinsAAC p.R306N Missense 8/11 - 1
17-7577018-CCTCG-C c.916_919del p.R306Hfs*38 SpliceDonorDeletion 8/11 - 1
17-7577020-T-TC c.917dup p.A307Sfs*30 Frameshift 8/11 - 1
17-7577021-C-CCTTA c.916_917insTAAG p.R306Lfs*32 Frameshift 8/11 - 1
17-7577021-C-CTCAGCTCTCGGAACATCTCGA c.916_917insTCGAGATGTTCCGAGAGCTGA p.K305_R306insLEMFREL InFrameInsertion 8/11 - 1
17-7577021-C-G c.917G>C p.R306P Missense 8/11 - 13
17-7577021-CG-GC c.916_917delinsGC p.R306A Missense 8/11 - 8
17-7577021-CG-GT c.916_917delinsAC p.R306T Missense 8/11 - 2
17-7577021-CG-TC c.916_917delinsGA p.R306E Missense 8/11 - 1
17-7577021-CG-TT c.916_917delinsAA p.R306K Missense 8/11 - 2
17-7577021-C-T c.917G>A p.R306Q Missense 8/11 - 30
17-7577021-TC-T c.917del p.R306Qfs*39 Frameshift 8/11 - 1
17-7577020-T-A c.918A>T p.R306= Synonymous 8/11 - 3
17-7577020-T-C c.918A>G p.R306= Synonymous 8/11 - 2
17-7577020-T-G c.918A>C p.R306= Synonymous 8/11 - 2
17-7577021-C-CG c.916dup p.R306Pfs*31 Frameshift 8/11 - 1
17-7577022-CG-C c.916del p.R306Efs*39 Frameshift 8/11 - 3
17-7577022-CGCTT-C c.913_916del p.K305Efs*39 Frameshift 8/11 - 2
17-7577022-G-A c.916C>T p.R306* Nonsense 8/11 - 416
17-7577022-G-C c.916C>G p.R306G Missense 8/11 - 2
17-7577022-G-GAAGGAGT c.915_916insACTCCTT p.R306Tfs*33 Frameshift 8/11 - 1
17-7577022-G-T c.916C>A p.R306= Synonymous 8/11 - 19
17-7577022-G-GC c.915dup p.R306Afs*31 Frameshift 8/11 - 2
17-7577023-C-A c.915G>T p.K305N Missense 8/11 - 14
17-7577023-C-G c.915G>C p.K305N Missense 8/11 - 10
17-7577023-C-T c.915G>A p.K305= Synonymous 8/11 - 6
17-7577023-CT-GA c.914_915delinsTC p.K305I Missense 8/11 - 1
17-7577023-GC-G c.915del p.K305Nfs*40 Frameshift 8/11 - 2
17-7577023-GCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTT-G c.857_915del p.E286Afs*31 InFrameDeletion 8/11 - 8
17-7577023-GCTT-G c.913_915del p.K305del InFrameDeletion 8/11 - 1
17-7577024-T-A c.914A>T p.K305M Missense 8/11 - 6
17-7577024-T-C c.914A>G p.K305R Missense 8/11 - 12
17-7577024-T-G c.914A>C p.K305T Missense 8/11 - 10
17-7577024-TT-GC c.913_914delinsGC p.K305A Missense 8/11 - 6
17-7577021-CGCTTAGT-C c.910_916del p.T304Efs*39 Frameshift 8/11 - 1
17-7577022-GCTTAGTGCTCC-G c.905_915del p.G302Afs*31 Frameshift 8/11 - 1
17-7577023-CT-C c.914del p.K305Sfs*40 Frameshift 8/11 - 3
17-7577025-T-A c.913A>T p.K305* Nonsense 8/11 - 43
17-7577025-T-C c.913A>G p.K305E Missense 8/11 - 10
17-7577025-T-G c.913A>C p.K305Q Missense 8/11 - 5
17-7577024-TTAGTGCTCCC-T c.904_913del p.G302Sfs*40 Frameshift 8/11 - 1
17-7577025-T-TA c.912dup p.K305* Nonsense 8/11 - 5
17-7577026-A-AT c.911_912insA p.K305* Nonsense 8/11 - 4
17-7577026-A-C c.912T>G p.T304= Synonymous 8/11 - 4
17-7577026-A-G c.912T>C p.T304= Synonymous 8/11 - 6
17-7577026-AG-CA c.911_912delinsTG p.T304M Missense 8/11 - 1
17-7577026-AG-CT c.911_912inv p.T304K Missense 8/11 - 1
17-7577026-A-T c.912T>A p.T304= Synonymous 8/11 - 4
17-7577026-TAG-T c.911_912del p.T304Kfs*32 Frameshift 8/11 - 1
17-7577026-TA-T c.912del p.K305Sfs*40 Frameshift 8/11 - 1
17-7577027-AG-A c.911del p.T304Ifs*41 Frameshift 8/11 - 6
17-7577027-AGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCC-A c.877_911del p.G293* Frameshift 8/11 - 1
17-7577027-G-A c.911C>T p.T304I Missense 8/11 - 14
17-7577027-G-C c.911C>G p.T304S Missense 8/11 - 3
17-7577027-G-T c.911C>A p.T304N Missense 8/11 - 8
17-7577027-GT-CA c.910_911delinsTG p.T304C Missense 8/11 - 1
17-7577027-GT-CC c.910_911delinsGG p.T304G Missense 8/11 - 1
17-7577027-GT-TC c.910_911delinsGA p.T304D Missense 8/11 - 1
17-7577028-T-A c.910A>T p.T304S Missense 8/11 - 3
17-7577027-G-GTTCTTCT c.910_911insAGAAGAA p.T304Kfs*4 Frameshift 8/11 - 1
17-7577028-GT-G c.910del p.T304Lfs*41 Frameshift 8/11 - 1
17-7577028-T-C c.910A>G p.T304A Missense 8/11 - 16
17-7577028-T-G c.910A>C p.T304P Missense 8/11 - 2
17-7577027-GTGCTCCCTGGGGGCAGC-G c.894_910del p.E298Dfs*2 Frameshift 8/11 - 3
17-7577028-T-TG c.909dup p.T304Hfs*2 Frameshift 8/11 - 2
17-7577029-G-C c.909C>G p.S303R Missense 8/11 - 3
17-7577029-GCT-CTC c.907_909delinsGAG p.S303E Missense 8/11 - 2
17-7577029-G-T c.909C>A p.S303R Missense 8/11 - 1
17-7577029-TG-T c.909del p.S303Rfs*42 Frameshift 8/11 - 1
17-7577031-T-G c.907A>C p.S303R Missense 8/11 - 1
17-7577029-G-GCCCC c.908_909insGGGG p.S303Rfs*4 Frameshift 8/11 - 1
17-7577030-C-A c.908G>T p.S303I Missense 8/11 - 5
17-7577030-C-G c.908G>C p.S303T Missense 8/11 - 10
17-7577030-C-T c.908G>A p.S303N Missense 8/11 - 20
17-7577030-CT-AA c.907_908delinsTT p.S303F Missense 8/11 - 5
17-7577030-CT-AG c.907_908inv p.S303L Missense 8/11 - 1
17-7577030-CT-GC c.907_908delinsGC p.S303A Missense 8/11 - 3
17-7577031-CT-C c.907del p.S303Afs*42 Frameshift 8/11 - 7
17-7577031-T-A c.907A>T p.S303C Missense 8/11 - 6
17-7577031-T-C c.907A>G p.S303G Missense 8/11 - 8
17-7577031-T-TA c.906_907insT p.S303* Nonsense 8/11 - 2
17-7577031-T-TG c.906_907insC p.S303Qfs*3 Frameshift 8/11 - 2
17-7577032-C-A c.906G>T p.G302= Synonymous 8/11 - 4
17-7577032-CCC-ACA c.904_906delinsTGT p.G302C Missense 8/11 - 1
17-7577032-CCC-GCT c.904_906delinsAGC p.G302S Missense 8/11 - 3
17-7577032-CCC-GTT c.904_906delinsAAC p.G302N Missense 8/11 - 1
17-7577032-C-G c.906G>C p.G302= Synonymous 8/11 - 4
17-7577032-C-T c.906G>A p.G302= Synonymous 8/11 - 3
17-7577028-TGCTCCCTGGGGGCA-T c.896_909del p.L299Hfs*2 Frameshift 8/11 - 2
17-7577031-TCC-T c.905_906del p.G302Efs*3 Frameshift 8/11 - 1
17-7577033-C-A c.905G>T p.G302V Missense 8/11 - 6
17-7577033-CCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTT-C c.871_905del p.K291Efs*3 Frameshift 8/11 - 1
17-7577033-CC-GT c.904_905delinsAC p.G302T Missense 8/11 - 1
17-7577033-C-G c.905G>C p.G302A Missense 8/11 - 3
17-7577033-C-T c.905G>A p.G302E Missense 8/11 - 17
17-7577031-TC-T c.906del p.S303Afs*42 Frameshift 8/11 - 11
17-7577034-C-A c.904G>T p.G302W Missense 8/11 - 9
17-7577034-C-CG c.903_904insC p.G302Rfs*4 Frameshift 8/11 - 2
17-7577034-CCT-C c.903_904del p.G302Efs*3 Frameshift 8/11 - 1
17-7577034-CCTG-C c.902_904del p.P301_G302delinsR MultiAAMissense 8/11 - 1
17-7577034-C-G c.904G>C p.G302R Missense 8/11 - 13
17-7577034-C-T c.904G>A p.G302R Missense 8/11 - 11
17-7577028-TGCTCCCTGGGGGCAGCTCGTGGTGAG-T c.884_909del p.P295Hfs*2 Frameshift 8/11 - 1
17-7577034-C-CT c.903dup p.G302Rfs*4 Frameshift 8/11 - 12
17-7577035-CT-C c.903del p.S303Afs*42 Frameshift 8/11 - 6
17-7577035-CTGGGG-C c.899_903del p.P300Rfs*4 Frameshift 8/11 - 1
17-7577035-T-A c.903A>T p.P301= Synonymous 8/11 - 1
17-7577035-T-C c.903A>G p.P301= Synonymous 8/11 - 11
17-7577035-T-G c.903A>C p.P301= Synonymous 8/11 - 1
17-7577035-TGG-ACA c.901_903delinsTGT p.P301C Missense 8/11 - 1
17-7577035-TGG-GTT c.901_903delinsAAC p.P301N Missense 8/11 - 1
17-7577035-T-TC c.902_903insG p.G302Rfs*4 Frameshift 8/11 - 2
17-7577033-CCTGGGGGCAGCTCGTGGTGAGG-C c.883_904del p.P295Gfs*43 Frameshift 8/11 - 2
17-7577036-G-A c.902C>T p.P301L Missense 8/11 - 130
17-7577036-G-C c.902C>G p.P301R Missense 8/11 - 5
17-7577036-GG-TA c.901_902delinsTA p.P301* Nonsense 8/11 - 1
17-7577036-G-GTCAC c.901_902insGTGA p.P301Rfs*6 Frameshift 8/11 - 1
17-7577036-G-T c.902C>A p.P301Q Missense 8/11 - 10
17-7577037-G-A c.901C>T p.P301S Missense 8/11 - 88
17-7577037-G-C c.901C>G p.P301A Missense 8/11 - 8
17-7577037-G-GA c.900_901insT p.P301Sfs*5 Frameshift 8/11 - 1
17-7577037-G-GC c.900_901insG p.P301Afs*5 Frameshift 8/11 - 2
17-7577037-GGGGGCAGCTCGTGGTGAGGCT-G c.881_901del p.E294_P301delinsA MultiAAMissense 8/11 - 1
17-7577037-G-GTCT c.900_901insAGA p.P300_P301insR InFrameInsertion 8/11 - 1
17-7577037-G-GTGTAGT c.900_901insACTACA p.P300_P301insTT InFrameInsertion 8/11 - 1
17-7577037-G-T c.901C>A p.P301T Missense 8/11 - 9
17-7577038-G-A c.900C>T p.P300= Synonymous 8/11 - 5
17-7577038-G-C c.900C>G p.P300= Synonymous 8/11 - 7
17-7577038-GGG-TTA c.898_900delinsTAA p.P300* Nonsense 8/11 - 1
17-7577038-G-T c.900C>A p.P300= Synonymous 8/11 - 4
17-7577039-G-A c.899C>T p.P300L Missense 8/11 - 21
17-7577039-G-C c.899C>G p.P300R Missense 8/11 - 7
17-7577039-GG-AA c.898_899delinsTT p.P300F Missense 8/11 - 1
17-7577039-G-T c.899C>A p.P300H Missense 8/11 - 3
17-7577035-TG-T c.902del p.P301Qfs*44 Frameshift 8/11 - 50
17-7577035-T-TG c.902dup p.G302Rfs*4 Frameshift 8/11 - 14
17-7577040-G-A c.898C>T p.P300S Missense 8/11 - 13
17-7577040-G-C c.898C>G p.P300A Missense 8/11 - 9
17-7577040-GGC-G c.897_898del p.P301Rfs*4 Frameshift 8/11 - 1
17-7577040-G-T c.898C>A p.P300T Missense 8/11 - 3
17-7577040-G-GC c.897dup p.P300Afs*6 Frameshift 8/11 - 1
17-7577041-C-A c.897G>T p.L299= Synonymous 8/11 - 5
17-7577041-CAG-GAT c.895_897delinsATC p.L299I Missense 8/11 - 2
17-7577041-C-G c.897G>C p.L299= Synonymous 8/11 - 4
17-7577041-C-T c.897G>A p.L299= Synonymous 8/11 - 5
17-7577041-GC-G c.897del p.P301Qfs*44 Frameshift 8/11 - 1
17-7577039-GGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGC-G c.848_898del p.R283_L299del InFrameDeletion 8/11 - 1
17-7577041-C-CA c.896dup p.P300Afs*6 Frameshift 8/11 - 2
17-7577042-A-AT c.895_896insA p.L299Hfs*7 Frameshift 8/11 - 1
17-7577042-A-ATC c.895_896insGA p.L299Rfs*47 Frameshift 8/11 - 1
17-7577042-A-C c.896T>G p.L299R Missense 8/11 - 3
17-7577042-A-G c.896T>C p.L299P Missense 8/11 - 12
17-7577042-A-T c.896T>A p.L299Q Missense 8/11 - 5
17-7577042-CA-C c.896del p.L299Rfs*46 Frameshift 8/11 - 1
17-7577042-CAG-C c.895_896del p.L299Afs*6 Frameshift 8/11 - 1
17-7577043-AGCTCGTGGTGAGGCTCCCCT-A c.876_895del p.K292Nfs*7 Frameshift 8/11 - 1
17-7577043-G-A c.895C>T p.L299= Synonymous 8/11 - 8
17-7577043-G-C c.895C>G p.L299V Missense 8/11 - 5
17-7577043-G-T c.895C>A p.L299M Missense 8/11 - 1
17-7577042-AGCTC-A c.892_895del p.E298Cfs*46 Frameshift 8/11 - 2
17-7577043-G-GC c.894dup p.L299Afs*7 Frameshift 8/11 - 2
17-7577044-C-A c.894G>T p.E298D Missense 8/11 - 26
17-7577044-C-CCGCTCA c.893_894insTGAGCG p.E298delinsDER MultiAAMissense 8/11 - 1
17-7577044-C-G c.894G>C p.E298D Missense 8/11 - 26
17-7577044-C-T c.894G>A p.E298= Synonymous 8/11 - 5
17-7577044-CTC-GTT c.892_894delinsAAC p.E298N Missense 8/11 - 1
17-7577044-GC-G c.894del p.E298Dfs*47 Frameshift 8/11 - 1
17-7577044-C-CT c.893dup p.L299Afs*7 Frameshift 8/11 - 1
17-7577045-T-A c.893A>T p.E298V Missense 8/11 - 6
17-7577045-T-C c.893A>G p.E298G Missense 8/11 - 5
17-7577045-T-G c.893A>C p.E298A Missense 8/11 - 9
17-7577045-T-TC c.892dup p.E298Gfs*8 Frameshift 8/11 - 1
17-7577046-C-A c.892G>T p.E298* Nonsense 8/11 - 183
17-7577046-C-G c.892G>C p.E298Q Missense 8/11 - 16
17-7577046-C-T c.892G>A p.E298K Missense 8/11 - 25
17-7577046-TCGTGG-T c.888_892del p.H296Qfs*8 Frameshift 8/11 - 1
17-7577046-TC-T c.892del p.E298Sfs*47 Frameshift 8/11 - 2
17-7577046-C-CG c.891dup p.E298Rfs*8 Frameshift 8/11 - 1
17-7577047-G-A c.891C>T p.H297= Synonymous 8/11 - 3
17-7577047-G-C c.891C>G p.H297Q Missense 8/11 - 1
17-7577047-GTGGTGAGGCTCCCCTTTCTTGCG-T c.868_891delinsA p.K291Afs*7 Frameshift 8/11 - 1
17-7577046-CGTGGTGA-C c.885_891del p.H296Sfs*47 Frameshift 8/11 - 1
17-7577048-GT-G c.890del p.H297Pfs*48 Frameshift 8/11 - 3
17-7577048-GTGGTGAGGCTCCC-G c.878_890del p.G293Afs*48 Frameshift 8/11 - 1
17-7577048-T-A c.890A>T p.H297L Missense 8/11 - 2
17-7577048-T-C c.890A>G p.H297R Missense 8/11 - 6
17-7577048-T-G c.890A>C p.H297P Missense 8/11 - 9
17-7577048-TG-CC c.889_890delinsGG p.H297G Missense 8/11 - 1
17-7577048-TG-GC c.889_890delinsGC p.H297A Missense 8/11 - 5
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 - 18
17-7577049-G-C c.889C>G p.H297D Missense 8/11 - 7
17-7577049-G-T c.889C>A p.H297N Missense 8/11 - 7
17-7577047-GTGGTGAGGCTCCCCTTTCT-G c.872_890del p.K291Tfs*48 Frameshift 8/11 - 5
17-7577048-TG-T c.889del p.H297Tfs*48 Frameshift 8/11 - 5
17-7577048-T-TG c.889dup p.H297Pfs*9 Frameshift 8/11 - 2
17-7577050-G-A c.888C>T p.H296= Synonymous 8/11 - 4
17-7577050-G-C c.888C>G p.H296Q Missense 8/11 - 7
17-7577050-G-T c.888C>A p.H296Q Missense 8/11 - 5
17-7577050-GTG-TTA c.886_888delinsTAA p.H296* Nonsense 8/11 - 1
17-7577049-GGT-G c.887_888del p.H296Pfs*9 Frameshift 8/11 - 1
17-7577050-G-GT c.887dup p.H296Qfs*10 Frameshift 8/11 - 3
17-7577051-GT-G c.887del p.H296Pfs*49 Frameshift 8/11 - 1
17-7577051-GTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACA-G c.829_887del p.C277Pfs*9 InFrameDeletion 8/11 - 1
17-7577051-GTGAGGCTC-G c.880_887del p.E294Pfs*9 Frameshift 8/11 - 1
17-7577051-T-A c.887A>T p.H296L Missense 8/11 - 8
17-7577051-T-C c.887A>G p.H296R Missense 8/11 - 14
17-7577051-T-G c.887A>C p.H296P Missense 8/11 - 8
17-7577051-TG-CA c.886_887inv p.H296C Missense 8/11 - 2
17-7577048-TGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCC-T c.845_889del p.R282_H296del InFrameDeletion 8/11 - 1
17-7577050-GTGAGGCTCCCCTTTCTTGCGGAGATTCTC-G c.859_887del p.E287Pfs*9 Frameshift 8/11 - 3
17-7577052-G-A c.886C>T p.H296Y Missense 8/11 - 19
17-7577052-G-C c.886C>G p.H296D Missense 8/11 - 4
17-7577052-G-T c.886C>A p.H296N Missense 8/11 - 11
17-7577052-TG-T c.886del p.H296Tfs*49 Frameshift 8/11 - 1
17-7577050-GTGAGGCTCCCCTTTCT-G c.872_887del p.K291Tfs*49 Frameshift 8/11 - 2
17-7577050-GTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTC-G c.853_887del p.E285Pfs*9 Frameshift 8/11 - 1
17-7577053-A-G c.885T>C p.P295= Synonymous 8/11 - 7
17-7577053-GAGGC-G c.882_885del p.E294Dfs*50 Frameshift 8/11 - 2
17-7577054-G-A c.884C>T p.P295L Missense 8/11 - 25
17-7577054-G-C c.884C>G p.P295R Missense 8/11 - 10
17-7577054-G-T c.884C>A p.P295H Missense 8/11 - 9
17-7577053-AG-A c.884del p.P295Lfs*50 Frameshift 8/11 - 1
17-7577055-G-A c.883C>T p.P295S Missense 8/11 - 24
17-7577055-G-C c.883C>G p.P295A Missense 8/11 - 4
17-7577055-G-T c.883C>A p.P295T Missense 8/11 - 4
17-7577053-AGGCTCCCCTTTCTTGC-A c.869_884del p.R290Lfs*50 Frameshift 8/11 - 1
17-7577055-G-GC c.882dup p.P295Afs*11 Frameshift 8/11 - 1
17-7577056-C-A c.882G>T p.E294D Missense 8/11 - 7
17-7577056-C-G c.882G>C p.E294D Missense 8/11 - 6
17-7577056-C-T c.882G>A p.E294= Synonymous 8/11 - 3
17-7577056-CTC-ATG c.880_882delinsCAT p.E294H Missense 8/11 - 1
17-7577056-GCTCCCCTTTC-G c.873_882del p.K291Nfs*51 Frameshift 8/11 - 1
17-7577056-C-CT c.881dup p.P295Afs*11 Frameshift 8/11 - 1
17-7577057-CT-C c.881del p.E294Gfs*51 Frameshift 8/11 - 1
17-7577057-T-A c.881A>T p.E294V Missense 8/11 - 8
17-7577057-T-C c.881A>G p.E294G Missense 8/11 - 13
17-7577057-T-G c.881A>C p.E294A Missense 8/11 - 6
17-7577055-GCTCCCCTTTCTTGCGGAGATTCT-G c.860_882del p.E287Afs*11 Frameshift 8/11 - 1
17-7577056-CTCCCCTTTCTTGCGGAGATTCTCTTCCTCTG-C c.851_881del p.T284Sfs*51 Frameshift 8/11 - 1
17-7577058-C-A c.880G>T p.E294* Nonsense 8/11 - 159
17-7577058-C-CA c.879_880insT p.E294* Nonsense 8/11 - 6
17-7577058-C-CAAACAT c.879_880insATGTTT p.G293_E294insMF InFrameInsertion 8/11 - 1
17-7577058-C-G c.880G>C p.E294Q Missense 8/11 - 10
17-7577058-C-T c.880G>A p.E294K Missense 8/11 - 24
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
17-7577057-TCCCCTTTCTTG-T c.870_880del p.K291Afs*11 Frameshift 8/11 - 1
17-7577059-C-A c.879G>T p.G293= Synonymous 8/11 - 1
17-7577059-CCC-AAA c.877_879delinsTTT p.G293F Missense 8/11 - 1
17-7577059-CCCCTTTCTTGCGGAGATTCTCTTCCTCTGT-C c.850_879del p.T284_G293del InFrameDeletion 8/11 - 2
17-7577059-CC-GT c.878_879delinsAC p.G293D Missense 8/11 - 1
17-7577059-C-G c.879G>C p.G293= Synonymous 8/11 - 4
17-7577059-C-T c.879G>A p.G293= Synonymous 8/11 - 6
17-7577057-TCC-T c.879_880del p.E294Afs*11 Frameshift 8/11 - 4
17-7577060-C-A c.878G>T p.G293V Missense 8/11 - 10
17-7577060-CCCTT-C c.875_878del p.K292Rfs*52 Frameshift 8/11 - 1
17-7577060-CC-GT c.877_878delinsAC p.G293T Missense 8/11 - 1
17-7577060-C-CT c.877_878insA p.G293Efs*13 Frameshift 8/11 - 2
17-7577060-CC-TA c.877_878delinsTA p.G293* Nonsense 8/11 - 2
17-7577060-C-G c.878G>C p.G293A Missense 8/11 - 6
17-7577060-C-T c.878G>A p.G293E Missense 8/11 - 13
17-7577057-TC-T c.880del p.E294Sfs*51 Frameshift 8/11 - 28
17-7577057-T-TC c.880dup p.E294Gfs*12 Frameshift 8/11 - 4
17-7577061-C-A c.877G>T p.G293W Missense 8/11 - 25
17-7577061-C-CA c.876_877insT p.G293Wfs*13 Frameshift 8/11 - 1
17-7577061-CCT-C c.876_877del p.E294Afs*11 Frameshift 8/11 - 5
17-7577061-C-G c.877G>C p.G293R Missense 8/11 - 11
17-7577061-C-T c.877G>A p.G293R Missense 8/11 - 22
17-7577060-CCTTTCTTGCGGAGATTCTCTTCCTCTGTG-C c.849_877del p.T284Gfs*12 Frameshift 8/11 - 1
17-7577060-CCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACA-C c.819_877del p.V274Gfs*12 InFrameDeletion 8/11 - 6
17-7577062-CTTT-C c.874_876del p.K292del InFrameDeletion 8/11 - 1
17-7577062-T-A c.876A>T p.K292N Missense 8/11 - 4
17-7577062-T-C c.876A>G p.K292= Synonymous 8/11 - 3
17-7577062-T-G c.876A>C p.K292N Missense 8/11 - 7
17-7577062-TT-CTC c.875_876delinsGAG p.K292Rfs*14 Frameshift 8/11 - 1
17-7577062-TTT-ACA c.874_876delinsTGT p.K292C Missense 8/11 - 8
17-7577063-T-A c.875A>T p.K292I Missense 8/11 - 17
17-7577063-T-C c.875A>G p.K292R Missense 8/11 - 28
17-7577063-T-G c.875A>C p.K292T Missense 8/11 - 12
17-7577063-T-TA c.874_875insT p.K292Ifs*14 Frameshift 8/11 - 1
17-7577063-TT-CC c.874_875delinsGG p.K292G Missense 8/11 - 2
17-7577063-TT-GC c.874_875delinsGC p.K292A Missense 8/11 - 1
17-7577060-CCTTT-C c.874_877del p.K292Gfs*52 Frameshift 8/11 - 8
17-7577061-C-CT c.876dup p.G293Rfs*13 Frameshift 8/11 - 1
17-7577061-CT-C c.876del p.E294Sfs*51 Frameshift 8/11 - 7
17-7577064-T-A c.874A>T p.K292* Nonsense 8/11 - 23
17-7577064-T-C c.874A>G p.K292E Missense 8/11 - 11
17-7577064-T-G c.874A>C p.K292Q Missense 8/11 - 3
17-7577064-T-TA c.873_874insT p.K292* Nonsense 8/11 - 3
17-7577063-TTC-T c.873_874del p.K292Rfs*13 Frameshift 8/11 - 1
17-7577065-C-A c.873G>T p.K291N Missense 8/11 - 11
17-7577065-C-G c.873G>C p.K291N Missense 8/11 - 20
17-7577065-C-T c.873G>A p.K291= Synonymous 8/11 - 7
17-7577065-CTT-ACA c.871_873delinsTGT p.K291C Missense 8/11 - 1
17-7577065-CTT-ATG c.871_873delinsCAT p.K291H Missense 8/11 - 1
17-7577065-TC-T c.873del p.E294Sfs*51 Frameshift 8/11 - 7
17-7577066-CTT-C c.871_872del p.K291Efs*14 Frameshift 8/11 - 1
17-7577066-CTTGCGGA-C c.866_872del p.L289Rfs*54 Frameshift 8/11 - 1
17-7577066-T-A c.872A>T p.K291M Missense 8/11 - 6
17-7577066-T-C c.872A>G p.K291R Missense 8/11 - 25
17-7577066-T-G c.872A>C p.K291T Missense 8/11 - 11
17-7577064-TCTTGCGGAGATTCTCTTC-T c.856_873del p.E286_K291del InFrameDeletion 8/11 - 1
17-7577065-CT-C c.872del p.K291Rfs*54 Frameshift 8/11 - 1
17-7577067-T-A c.871A>T p.K291* Nonsense 8/11 - 44
17-7577067-T-C c.871A>G p.K291E Missense 8/11 - 19
17-7577067-T-G c.871A>C p.K291Q Missense 8/11 - 13
17-7577067-TGCGG-GGGCGGCTCC c.867_871delinsGGAGCCGCCC p.R290Efs*57 Frameshift 8/11 - 1
17-7577067-TG-GT c.870_871delinsAC p.K291Q Missense 8/11 - 1
17-7577067-T-TA c.870_871insT p.K291* Nonsense 8/11 - 1
17-7577063-TTCTTGCGGAGATTC-T c.861_874del p.N288Rfs*13 Frameshift 8/11 - 5
17-7577067-T-TG c.870dup p.K291Qfs*15 Frameshift 8/11 - 2
17-7577068-G-A c.870C>T p.R290= Synonymous 8/11 - 3
17-7577068-G-C c.870C>G p.R290= Synonymous 8/11 - 4
17-7577068-GCG-CTC c.868_870delinsGAG p.R290E Missense 8/11 - 2
17-7577068-GCG-CTT c.868_870delinsAAG p.R290K Missense 8/11 - 1
17-7577068-GC-TT c.869_870delinsAA p.R290Q Missense 8/11 - 1
17-7577068-G-T c.870C>A p.R290= Synonymous 8/11 - 5
17-7577068-TGCGGAGATTCTCTTC-T c.856_870del p.E286_R290del InFrameDeletion 8/11 - 1
17-7577066-TTGCGGAGATTCTCTTCCTC-T c.853_871del p.E285Rfs*54 Frameshift 8/11 - 2
17-7577067-TGCG-T c.868_870del p.R290del InFrameDeletion 8/11 - 2
17-7577067-TGC-T c.869_870del p.R290Qfs*15 Frameshift 8/11 - 7
17-7577069-C-A c.869G>T p.R290L Missense 8/11 - 26
17-7577069-C-G c.869G>C p.R290P Missense 8/11 - 14
17-7577069-CG-AT c.868_869delinsAT p.R290I Missense 8/11 - 1
17-7577069-C-T c.869G>A p.R290H Missense 8/11 - 99
17-7577069-GCGGAGAT-G c.863_869del p.N288Tfs*55 Frameshift 8/11 - 1
17-7577068-GCGGAGATTCTCTTC-G c.856_869del p.E286Qfs*15 Frameshift 8/11 - 1
17-7577070-CGG-C c.867_868del p.R290Qfs*15 Frameshift 8/11 - 3
17-7577070-G-A c.868C>T p.R290C Missense 8/11 - 60
17-7577070-G-C c.868C>G p.R290G Missense 8/11 - 6
17-7577070-G-T c.868C>A p.R290S Missense 8/11 - 9
17-7577068-G-GCGGTTTCCGC c.869_870insGCGGAAACCG p.K291Rfs*18 Frameshift 8/11 - 2
17-7577069-CG-C c.868del p.R290Afs*55 Frameshift 8/11 - 6
17-7577069-CGGAGATTCTCTTCCTCT-C c.852_868del p.E285Qfs*15 Frameshift 8/11 - 1
17-7577071-G-A c.867C>T p.L289= Synonymous 8/11 - 15
17-7577071-GAG-CAT c.865_867delinsATG p.L289M Missense 8/11 - 1
17-7577071-GAG-TTA c.865_867delinsTAA p.L289* Nonsense 8/11 - 1
17-7577071-GA-TT c.866_867delinsAA p.L289Q Missense 8/11 - 1
17-7577071-G-C c.867C>G p.L289= Synonymous 8/11 - 6
17-7577071-GGAGATTCTCTTCCTC-G c.853_867del p.E285_L289del InFrameDeletion 8/11 - 2
17-7577071-G-T c.867C>A p.L289= Synonymous 8/11 - 6
17-7577070-GGAGATTCTCTTCCTCTGTGC-G c.848_867del p.R283Pfs*16 Frameshift 8/11 - 5
17-7577071-G-GA c.866dup p.R290Pfs*16 Frameshift 8/11 - 4
17-7577072-A-AC c.865_866insG p.L289Rfs*17 Frameshift 8/11 - 1
17-7577072-A-C c.866T>G p.L289R Missense 8/11 - 8
17-7577072-A-G c.866T>C p.L289P Missense 8/11 - 12
17-7577072-AGATT-GGAGTTTGAG c.862_866delinsCTCAAACTCC p.N288Lfs*59 Frameshift 8/11 - 1
17-7577072-AG-GC c.865_866delinsGC p.L289A Missense 8/11 - 3
17-7577072-A-T c.866T>A p.L289H Missense 8/11 - 4
17-7577072-GA-G c.866del p.L289Pfs*56 Frameshift 8/11 - 3
17-7577070-GGA-G c.866_867del p.L289Pfs*16 Frameshift 8/11 - 3
17-7577073-G-A c.865C>T p.L289F Missense 8/11 - 30
17-7577073-G-C c.865C>G p.L289V Missense 8/11 - 10
17-7577073-G-T c.865C>A p.L289I Missense 8/11 - 1
17-7577073-G-GA c.864dup p.L289Sfs*17 Frameshift 8/11 - 1
17-7577073-G-GAA c.864_865insTT p.L289Ffs*57 Frameshift 8/11 - 3
17-7577074-A-C c.864T>G p.N288K Missense 8/11 - 7
17-7577074-A-T c.864T>A p.N288K Missense 8/11 - 10
17-7577074-GATTCTCTTCCTC-G c.853_864del p.E285_N288del InFrameDeletion 8/11 - 3
17-7577068-G-GCGGAGATCTGATTTC c.869_870insGAAATCAGATCTCCG p.K291_K292insSDLRK InFrameInsertion 8/11 - 1
17-7577075-ATTCTCTTC-A c.856_863del p.E286Sfs*17 Frameshift 8/11 - 3
17-7577075-ATTCTCTTCCT-A c.854_863del p.E285Vfs*57 Frameshift 8/11 - 1
17-7577075-ATTCTCTTCCTCTGTG-A c.849_863del p.T284_N288del InFrameDeletion 8/11 - 1
17-7577075-ATTCTCTTCCTCTGTGCGCCGGTCTCT-A c.838_863del p.R280Sfs*17 Frameshift 8/11 - 1
17-7577075-T-A c.863A>T p.N288I Missense 8/11 - 4
17-7577075-T-C c.863A>G p.N288S Missense 8/11 - 18
17-7577075-T-G c.863A>C p.N288T Missense 8/11 - 4
17-7577075-T-TA c.862_863insT p.N288Ifs*18 Frameshift 8/11 - 1
17-7577074-A-AT c.863dup p.N288Kfs*18 Frameshift 8/11 - 7
17-7577074-AT-A c.863del p.N288Ifs*57 Frameshift 8/11 - 4
17-7577074-ATTCTCTTCCTCTG-A c.851_863del p.T284Ifs*57 Frameshift 8/11 - 1
17-7577076-T-A c.862A>T p.N288Y Missense 8/11 - 12
17-7577076-T-C c.862A>G p.N288D Missense 8/11 - 13
17-7577076-T-G c.862A>C p.N288H Missense 8/11 - 1
17-7577076-T-TA c.861_862insT p.N288* Nonsense 8/11 - 3
17-7577076-TTCTCTTCCTCTGTGCGCCGGTCTCTCC-T c.836_862del p.G279_N288delinsD MultiAAMissense 8/11 - 1
17-7577075-TTCTCTTCCTCTG-T c.851_862del p.T284_E287del InFrameDeletion 8/11 - 1
17-7577076-T-TC c.861dup p.N288Efs*18 Frameshift 8/11 - 1
17-7577077-C-A c.861G>T p.E287D Missense 8/11 - 29
17-7577077-C-G c.861G>C p.E287D Missense 8/11 - 43
17-7577077-C-T c.861G>A p.E287= Synonymous 8/11 - 12
17-7577077-TC-T c.861del p.N288Ifs*57 Frameshift 8/11 - 1
17-7577077-TCTC-T c.859_861del p.E287del InFrameDeletion 8/11 - 2
17-7577077-TCTCTTCCTCTGTGCGCCG-T c.844_861del p.R282_E287del InFrameDeletion 8/11 - 3
17-7577074-ATTCTC-A c.859_863del p.E287Sfs*17 Frameshift 8/11 - 2
17-7577075-TTCTCTTCCTCTGTGCGCCGGTCTC-T c.839_862del p.R280_E287del InFrameDeletion 8/11 - 1
17-7577076-TCTCTTCCTCTGTGCGCCGGTCTCTCC-T c.836_861del p.G279Efs*18 Frameshift 8/11 - 1
17-7577076-TCTCTTCCTCTGTGCGC-T c.846_861del p.R283Ifs*57 Frameshift 8/11 - 2
17-7577077-C-CT c.860dup p.N288Efs*18 Frameshift 8/11 - 3
17-7577078-CTCTTCCTCT-C c.852_860del p.E285_E287del InFrameDeletion 8/11 - 1
17-7577078-CTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTT-C c.802_860del p.N268Efs*18 InFrameDeletion 8/11 - 1
17-7577078-T-A c.860A>T p.E287V Missense 8/11 - 9
17-7577078-T-C c.860A>G p.E287G Missense 8/11 - 12
17-7577078-TC-CT c.859_860delinsAG p.E287R Missense 8/11 - 2
17-7577078-T-G c.860A>C p.E287A Missense 8/11 - 8
17-7577076-T-TCTCCTC c.861_862insGAGGAG p.E286_E287dup InFrameInsertion 8/11 - 1
17-7577079-C-A c.859G>T p.E287* Nonsense 8/11 - 82
17-7577079-C-CA c.858_859insT p.E287* Nonsense 8/11 - 2
17-7577079-C-G c.859G>C p.E287Q Missense 8/11 - 19
17-7577079-C-T c.859G>A p.E287K Missense 8/11 - 47
17-7577079-TC-T c.859del p.E287Rfs*58 Frameshift 8/11 - 2
17-7577079-TCTTCCTCTGTGCGCCGGTCTCTCCCAGGAC-T c.830_859del p.C277_E287delins* MultiAAMissense 8/11 - 2
17-7577077-CTCT-C c.858_860del p.E287del InFrameDeletion 8/11 - 4
17-7577080-T-A c.858A>T p.E286D Missense 8/11 - 17
17-7577080-T-C c.858A>G p.E286= Synonymous 8/11 - 9
17-7577080-T-G c.858A>C p.E286D Missense 8/11 - 18
17-7577075-TTCTCTTCCTCTGTGCGCCGG-T c.843_862del p.D281Efs*18 Frameshift 8/11 - 1
17-7577076-TCTCTTC-T c.856_861del p.E286_E287del InFrameDeletion 8/11 - 7
17-7577078-TCTTC-T c.856_859del p.E286Rfs*58 Frameshift 8/11 - 1
17-7577079-CT-C c.858del p.E287Rfs*58 Frameshift 8/11 - 1
17-7577081-T-A c.857A>T p.E286V Missense 8/11 - 59
17-7577081-T-C c.857A>G p.E286G Missense 8/11 - 93
17-7577081-TC-AG c.856_857delinsCT p.E286L Missense 8/11 - 2
17-7577081-T-G c.857A>C p.E286A Missense 8/11 - 46
17-7577081-TTCCTCTGTGCGCCGGTCTCTC-T c.837_857del p.R280_E286del InFrameDeletion 8/11 - 1
17-7577081-TTCCTCTGTGC-T c.848_857del p.R283Qfs*59 Frameshift 8/11 - 3
17-7577081-TTC-T c.856_857del p.E286Rfs*19 Frameshift 8/11 - 2
17-7577081-T-TTTATCA c.856_857insTGATAA p.E286delinsVIK MultiAAMissense 8/11 - 1
17-7577082-C-A c.856G>T p.E286* Nonsense 8/11 - 90
17-7577082-C-G c.856G>C p.E286Q Missense 8/11 - 66
17-7577082-C-T c.856G>A p.E286K Missense 8/11 - 280
17-7577082-TCCTCTGTGCGCCGGTCTCTCCC-T c.835_856del p.G279Kfs*59 Frameshift 8/11 - 1
17-7577080-TTCC-T c.855_857del p.E287del InFrameDeletion 8/11 - 1
17-7577080-TTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACC-T c.813_857del p.V272_E286del InFrameDeletion 8/11 - 1
17-7577081-TCCTCTGTGCGCCGGTCTCTCC-T c.836_856del p.G279_E285del InFrameDeletion 8/11 - 1
17-7577081-TCCTCTGTG-T c.849_856del p.T284Rfs*19 Frameshift 8/11 - 1
17-7577081-TC-T c.856del p.E286Kfs*59 Frameshift 8/11 - 3
17-7577083-C-A c.855G>T p.E285D Missense 8/11 - 8
17-7577083-CCTCTG-C c.851_855del p.T284Rfs*20 Frameshift 8/11 - 1
17-7577083-C-G c.855G>C p.E285D Missense 8/11 - 6
17-7577083-C-T c.855G>A p.E285= Synonymous 8/11 - 11
17-7577083-CTC-ACCCCAAGG c.853_855delinsCCTTGGGGT p.E285delinsPWG MultiAAMissense 8/11 - 1
17-7577084-TCTGTGC-ATACAAA c.848_854delinsTTTGTAT p.R283_E285delinsLCM MultiAAMissense 8/11 - 1
17-7577080-TTCCTCTGTGCGCCGGTCTC-T c.839_857del p.R280Kfs*59 Frameshift 8/11 - 5
17-7577084-T-A c.854A>T p.E285V Missense 8/11 - 83
17-7577084-T-C c.854A>G p.E285G Missense 8/11 - 19
17-7577084-TC-AG c.853_854delinsCT p.E285L Missense 8/11 - 4
17-7577084-TC-CT c.853_854delinsAG p.E285R Missense 8/11 - 1
17-7577084-TCTGTGCGCCGGTCTCTCCC-CCCCAAGG c.835_854delinsCCTTGGGG p.G279_E285delinsPWG MultiAAMissense 8/11 - 1
17-7577084-T-G c.854A>C p.E285A Missense 8/11 - 16
17-7577082-CCT-C c.854_855del p.E285Gfs*20 Frameshift 8/11 - 4
17-7577085-C-A c.853G>T p.E285* Nonsense 8/11 - 80
17-7577085-C-CA c.852_853insT p.E285* Nonsense 8/11 - 4
17-7577085-C-G c.853G>C p.E285Q Missense 8/11 - 34
17-7577085-C-T c.853G>A p.E285K Missense 8/11 - 406
17-7577085-TCTGTGCGCCGGTCTCTCCCAGGACAGGCACAA-T c.822_853del p.C275Gfs*20 Frameshift 8/11 - 4
17-7577085-C-CT c.852dup p.E285Rfs*21 Frameshift 8/11 - 3
17-7577086-CT-C c.852del p.E285Rfs*60 Frameshift 8/11 - 1
17-7577086-CTGT-C c.850_852del p.T284del InFrameDeletion 8/11 - 1
17-7577086-T-A c.852A>T p.T284= Synonymous 8/11 - 3
17-7577086-T-C c.852A>G p.T284= Synonymous 8/11 - 2
17-7577086-T-G c.852A>C p.T284= Synonymous 8/11 - 3
17-7577086-TG-CA c.851_852inv p.T284M Missense 8/11 - 1
17-7577086-TG-GT c.851_852delinsAC p.T284N Missense 8/11 - 2
17-7577087-G-A c.851C>T p.T284I Missense 8/11 - 14
17-7577087-G-C c.851C>G p.T284R Missense 8/11 - 12
17-7577087-G-GA c.850_851insT p.T284Ifs*22 Frameshift 8/11 - 1
17-7577087-G-T c.851C>A p.T284K Missense 8/11 - 6
17-7577087-GT-TA c.850_851delinsTA p.T284* Nonsense 8/11 - 1
17-7577087-GT-TC c.850_851delinsGA p.T284E Missense 8/11 - 2
17-7577087-TG-T c.851del p.T284Kfs*61 Frameshift 8/11 - 1
17-7577085-CTG-C c.851_852del p.T284Rfs*21 Frameshift 8/11 - 9
17-7577086-TGTGCGCCGGTCTCTCCCA-T c.834_851del p.G279_T284del InFrameDeletion 8/11 - 1
17-7577087-G-GTCC c.850_851insGGA p.R283dup InFrameInsertion 8/11 - 1
17-7577088-GT-G c.850del p.T284Qfs*61 Frameshift 8/11 - 6
17-7577088-T-A c.850A>T p.T284S Missense 8/11 - 14
17-7577088-T-C c.850A>G p.T284A Missense 8/11 - 15
17-7577088-T-G c.850A>C p.T284P Missense 8/11 - 48
17-7577088-T-TCCTTTG c.849_850insCAAAGG p.R283_T284insQR InFrameInsertion 8/11 - 1
17-7577084-TCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAG-T c.807_853del p.S269Rfs*21 Frameshift 8/11 - 1
17-7577086-TGTGCGCCG-T c.844_851del p.R283Gfs*20 Frameshift 8/11 - 1
17-7577088-T-TG c.849dup p.T284Hfs*22 Frameshift 8/11 - 1
17-7577089-G-A c.849C>T p.R283= Synonymous 8/11 - 6
17-7577089-G-C c.849C>G p.R283= Synonymous 8/11 - 5
17-7577089-GCG-CCA c.847_849delinsTGG p.R283W Missense 8/11 - 3
17-7577089-GCG-CTT c.847_849delinsAAG p.R283K Missense 8/11 - 1
17-7577089-GCG-TCA c.847_849delinsTGA p.R283* Nonsense 8/11 - 9
17-7577089-GC-TT c.848_849delinsAA p.R283Q Missense 8/11 - 7
17-7577089-G-T c.849C>A p.R283= Synonymous 8/11 - 3
17-7577089-TGCGCCGGTCTCTCCCAGGACAGGCACA-T c.823_849del p.C275_R283del InFrameDeletion 8/11 - 3
17-7577089-TGCGCCGGTCTCTCCCAGGACAGGC-T c.826_849del p.A276_R283del InFrameDeletion 8/11 - 3
17-7577089-TGCG-T c.847_849del p.R283del InFrameDeletion 8/11 - 2
17-7577074-A-ATTCTCTTCCTCTGTGCC c.863_864insGGCACAGAGGAAGAGAA p.N288Kfs*63 Frameshift 8/11 - 3
17-7577077-C-CTCTTCCTCTGTGCAA c.860_861insTTGCACAGAGGAAGA p.E286_E287insDCTEE InFrameInsertion 8/11 - 1
17-7577088-TGCGCCG-T c.844_849del p.R282_R283del InFrameDeletion 8/11 - 2
17-7577089-G-GC c.848dup p.T284Hfs*22 Frameshift 8/11 - 1
17-7577089-G-GCCC c.848_849insGGG p.R283_T284insG InFrameInsertion 8/11 - 1
17-7577090-C-A c.848G>T p.R283L Missense 8/11 - 14
17-7577090-C-G c.848G>C p.R283P Missense 8/11 - 135
17-7577090-CGCCGGTCTCT-TG c.838_848delinsCA p.R280_R283delinsH MultiAAMissense 8/11 - 1
17-7577090-CG-GC c.847_848delinsGC p.R283A Missense 8/11 - 3
17-7577090-CG-TA c.847_848delinsTA p.R283Y Missense 8/11 - 1
17-7577090-CG-TC c.847_848delinsGA p.R283D Missense 8/11 - 1
17-7577090-C-T c.848G>A p.R283H Missense 8/11 - 82
17-7577090-GC-G c.848del p.R283Pfs*62 Frameshift 8/11 - 1
17-7577090-GCGCC-G c.845_848del p.R282Pfs*62 Frameshift 8/11 - 3
17-7577088-TGC-T c.848_849del p.R283Hfs*22 Frameshift 8/11 - 4
17-7577089-GCGCCGGT-G c.842_848del p.D281Afs*62 Frameshift 8/11 - 1
17-7577090-C-CG c.847dup p.R283Pfs*23 Frameshift 8/11 - 1
17-7577090-C-CGGCT c.847_848insAGCC p.R283Qfs*24 Frameshift 8/11 - 1
17-7577091-CG-C c.847del p.R283Afs*62 Frameshift 8/11 - 5
17-7577091-G-A c.847C>T p.R283C Missense 8/11 - 116
17-7577091-G-C c.847C>G p.R283G Missense 8/11 - 18
17-7577091-G-GA c.846_847insT p.R283Sfs*23 Frameshift 8/11 - 1
17-7577091-G-GT c.846_847insA p.R283Tfs*23 Frameshift 8/11 - 1
17-7577091-G-T c.847C>A p.R283S Missense 8/11 - 20
17-7577089-GCGC-G c.846_848del p.R283del InFrameDeletion 8/11 - 11
17-7577092-CC-AT c.845_846delinsAT p.R282H Missense 8/11 - 24
17-7577092-CCG-ACA c.844_846delinsTGT p.R282C Missense 8/11 - 2
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 - 2
17-7577092-CCG-GCT c.844_846delinsAGC p.R282S Missense 8/11 - 1
17-7577092-CCGGTCTCTCCCA-GCGAAAG c.834_846delinsCTTTCGC p.G279_D281delinsF MultiAAMissense 8/11 - 1
17-7577092-GCCGGTCTCTCCCAGGACAGGCACAAAC-G c.820_846del p.V274_R282del InFrameDeletion 8/11 - 1
17-7577091-GC-G c.846del p.R283Afs*62 Frameshift 8/11 - 9
17-7577091-G-GCCC c.846_847insGGG p.R282_R283insG InFrameInsertion 8/11 - 1
17-7577092-C-CCATATT c.845_846insAATATG p.R282_R283insIW InFrameInsertion 8/11 - 1
17-7577092-C-CCCGGTCT c.845_846insAGACCGG p.R283Dfs*25 Frameshift 8/11 - 1
17-7577093-C-A c.845G>T p.R282L Missense 8/11 - 31
17-7577093-C-CA c.844_845insT p.R282Lfs*24 Frameshift 8/11 - 2
17-7577093-C-CT c.844_845insA p.R282Qfs*24 Frameshift 8/11 - 1
17-7577093-C-G c.845G>C p.R282P Missense 8/11 - 87
17-7577093-CG-AT c.844_845delinsAT p.R282M Missense 8/11 - 1
17-7577093-CG-GC c.844_845delinsGC p.R282A Missense 8/11 - 6
17-7577093-CG-GT c.844_845delinsAC p.R282T Missense 8/11 - 2
17-7577093-CG-TA c.844_845delinsTA p.R282* Nonsense 8/11 - 2
17-7577093-CG-TC c.844_845delinsGA p.R282E Missense 8/11 - 2
17-7577093-C-T c.845G>A p.R282Q Missense 8/11 - 108
17-7577073-G-GATTCTCTTCCTCTGTGCGCCGCGGAA c.864_865insTTCCGCGGCGCACAGAGGAAGAGAAT p.L289Ffs*65 Frameshift 8/11 - 2
17-7577090-C-CGCCGAT c.847_848insATCGGC p.R282_R283insHR InFrameInsertion 8/11 - 1
17-7577091-GCCGGTCTCTC-G c.837_846del p.R280Afs*62 Frameshift 8/11 - 2
17-7577091-GCCGGTCTCT-G c.838_846del p.D281_R283del InFrameDeletion 8/11 - 4
17-7577092-C-A c.846G>T p.R282= Synonymous 8/11 - 12
17-7577092-CCGGT-C c.842_845del p.D281Gfs*63 Frameshift 8/11 - 1
17-7577092-CCGGTCTCTCCCAGGACAGGCA-C c.825_845del p.C275_R282delinsW MultiAAMissense 8/11 - 1
17-7577092-C-G c.846G>C p.R282= Synonymous 8/11 - 11
17-7577092-C-T c.846G>A p.R282= Synonymous 8/11 - 16
17-7577094-CGG-C c.843_844del p.D281Efs*24 Frameshift 8/11 - 1
17-7577094-G-A c.844C>T p.R282W Missense 8/11 - 934
17-7577094-G-C c.844C>G p.R282G Missense 8/11 - 166
17-7577094-GG-AT c.843_844delinsAT p.D281_R282delinsEW MultiAAMissense 8/11 - 1
17-7577094-G-T c.844C>A p.R282= Synonymous 8/11 - 15
17-7577092-CCGGTCTCTCCCAGGACAGGCACAAACA-C c.819_845del p.V274_R282del InFrameDeletion 8/11 - 1
17-7577093-C-CG c.844dup p.R282Pfs*24 Frameshift 8/11 - 1
17-7577093-CG-C c.844del p.R282Gfs*63 Frameshift 8/11 - 14
17-7577095-G-A c.843C>T p.D281= Synonymous 8/11 - 10
17-7577095-G-C c.843C>G p.D281E Missense 8/11 - 91
17-7577095-G-GC c.842_843insG p.D281Efs*25 Frameshift 8/11 - 3
17-7577095-GGTCTCTCCCAGGACAGGCACAAAC-G c.820_843del p.V274_D281del InFrameDeletion 8/11 - 1
17-7577095-GGTCTCTCCCAGGACAGGC-G c.826_843del p.A276_D281del InFrameDeletion 8/11 - 1
17-7577095-GGTCTCT-G c.838_843del p.D281_R282del InFrameDeletion 8/11 - 3
17-7577095-G-T c.843C>A p.D281E Missense 8/11 - 121
17-7577095-GT-CTCCCTTA c.842_843delinsTAAGGGAG p.D281delinsVRE MultiAAMissense 8/11 - 1
17-7577094-GGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAA-G c.808_843del p.F270_D281del InFrameDeletion 8/11 - 4
17-7577095-G-GTT c.842_843insAA p.D281Efs*65 Frameshift 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
17-7577096-GTCTCT-G c.838_842del p.R280Pfs*24 Frameshift 8/11 - 1
17-7577096-GT-G c.842del p.D281Afs*64 Frameshift 8/11 - 1
17-7577096-T-A c.842A>T p.D281V Missense 8/11 - 91
17-7577096-T-C c.842A>G p.D281G Missense 8/11 - 178
17-7577096-TC-CG c.841_842delinsCG p.D281R Missense 8/11 - 4
17-7577096-TC-GG c.841_842delinsCC p.D281P Missense 8/11 - 4
17-7577096-T-G c.842A>C p.D281A Missense 8/11 - 46
17-7577097-C-A c.841G>T p.D281Y Missense 8/11 - 101
17-7577097-C-CA c.840_841insT p.D281* Nonsense 8/11 - 2
17-7577097-C-G c.841G>C p.D281H Missense 8/11 - 121
17-7577097-C-T c.841G>A p.D281N Missense 8/11 - 130
17-7577097-TCTC-T c.839_841del p.R280_D281delinsN MultiAAMissense 8/11 - 1
17-7577097-TCTCTCCCAGGACAGGCACAAACACGC-T c.816_841del p.R273Pfs*24 Frameshift 8/11 - 1
17-7577097-TCTCTCCCAGGACAGGCAC-T c.824_841del p.C275_D281delinsY MultiAAMissense 8/11 - 1
17-7577097-TCTCTCCCAGGACAGGC-T c.826_841del p.A276Tfs*64 Frameshift 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-TCTCTCCCAGGACAGGCA-T c.825_841del p.C275* Frameshift 8/11 - 1
17-7577096-TCTCTCCCAGGACAGG-T c.827_841del p.A276_R280del InFrameDeletion 8/11 - 3
17-7577096-TCTCTCC-T c.836_841del p.G279_R280del InFrameDeletion 8/11 - 2
17-7577097-C-CTT c.840_841insAA p.D281Kfs*65 Frameshift 8/11 - 1
17-7577098-CT-C c.840del p.D281Tfs*64 Frameshift 8/11 - 1
17-7577098-CTCT-C c.838_840del p.R280del InFrameDeletion 8/11 - 1
17-7577098-T-A c.840A>T p.R280S Missense 8/11 - 91
17-7577098-T-C c.840A>G p.R280= Synonymous 8/11 - 9
17-7577098-TC-AT c.839_840delinsAT p.R280N Missense 8/11 - 1
17-7577098-TC-CA c.839_840delinsTG p.R280M Missense 8/11 - 1
17-7577098-TC-GT c.839_840delinsAC p.R280N Missense 8/11 - 1
17-7577098-TCT-ACA c.838_840delinsTGT p.R280C Missense 8/11 - 14
17-7577098-TCT-ATG c.838_840delinsCAT p.R280H Missense 8/11 - 17
17-7577098-TCT-CCA c.838_840delinsTGG p.R280W Missense 8/11 - 5
17-7577098-TCT-GTC c.838_840delinsGAC p.R280D Missense 8/11 - 1
17-7577098-T-G c.840A>C p.R280S Missense 8/11 - 69
17-7577100-T-G c.838A>C p.R280= Synonymous 8/11 - 6
17-7577098-T-TC c.839dup p.D281Rfs*25 Frameshift 8/11 - 1
17-7577099-C-A c.839G>T p.R280I Missense 8/11 - 127
17-7577099-C-CGGGA c.838_839insTCCC p.R280Ifs*27 Frameshift 8/11 - 1
17-7577099-C-G c.839G>C p.R280T Missense 8/11 - 247
17-7577099-C-T c.839G>A p.R280K Missense 8/11 - 563
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 - 6
17-7577099-CT-GG c.838_839delinsCC p.R280P Missense 8/11 - 3
17-7577099-CT-TG c.838_839delinsCA p.R280Q Missense 8/11 - 1
17-7577099-TC-T c.839del p.R280Kfs*65 Frameshift 8/11 - 2
17-7577095-GTC-G c.841_842del p.D281Pfs*24 Frameshift 8/11 - 6
17-7577098-TCTCCCAGGA-T c.831_839del p.C277_R280delins* MultiAAMissense 8/11 - 2
17-7577098-TCTCC-T c.836_839del p.G279Efs*65 Frameshift 8/11 - 2
17-7577098-TCTC-T c.837_839del p.R280del InFrameDeletion 8/11 - 1
17-7577099-C-CT c.838dup p.R280Kfs*26 Frameshift 8/11 - 1
17-7577100-CT-C c.838del p.R280Efs*65 Frameshift 8/11 - 9
17-7577100-CTCCCAGG-C c.832_838del p.P278Efs*65 Frameshift 8/11 - 1
17-7577100-T-A c.838A>T p.R280* Nonsense 8/11 - 48
17-7577100-T-C c.838A>G p.R280G Missense 8/11 - 164
17-7577100-T-TA c.837_838insT p.R280* Nonsense 8/11 - 4
17-7577101-C-A c.837G>T p.G279= Synonymous 8/11 - 3
17-7577101-CC-GT c.836_837delinsAC p.G279D Missense 8/11 - 1
17-7577101-C-CT c.836_837insA p.R280Efs*26 Frameshift 8/11 - 2
17-7577101-C-G c.837G>C p.G279= Synonymous 8/11 - 2
17-7577101-C-T c.837G>A p.G279= Synonymous 8/11 - 6
17-7577101-TCCCAGGACAGGCACAAAC-T c.820_837del p.V274_G279del InFrameDeletion 8/11 - 1
17-7577101-TCCC-T c.835_837del p.G279del InFrameDeletion 8/11 - 3
17-7577100-TCCCAGGA-T c.831_837del p.C277* Frameshift 8/11 - 1
17-7577102-C-A c.836G>T p.G279V Missense 8/11 - 18
17-7577102-C-CT c.835_836insA p.G279Efs*27 Frameshift 8/11 - 1
17-7577102-C-G c.836G>C p.G279A Missense 8/11 - 4
17-7577102-C-T c.836G>A p.G279E Missense 8/11 - 135
17-7577100-TC-T c.837del p.R280Efs*65 Frameshift 8/11 - 19
17-7577100-T-TC c.837dup p.R280Efs*26 Frameshift 8/11 - 2
17-7577101-CCCAGGACAGGCACAAACA-C c.819_836del p.V274_G279del InFrameDeletion 8/11 - 1
17-7577103-C-A c.835G>T p.G279W Missense 8/11 - 19
17-7577103-CCAGGACAG-C c.828_835del p.C277Efs*26 Frameshift 8/11 - 1
17-7577103-C-CTGGGGAGAGGAGCTGG c.834_835insCCAGCTCCTCTCCCCA p.G279Pfs*32 Frameshift 8/11 - 1
17-7577103-C-G c.835G>C p.G279R Missense 8/11 - 25
17-7577103-C-T c.835G>A p.G279R Missense 8/11 - 40
17-7577103-C-CA c.834dup p.G279Wfs*27 Frameshift 8/11 - 2
17-7577104-A-C c.834T>G p.P278= Synonymous 8/11 - 3
17-7577104-A-G c.834T>C p.P278= Synonymous 8/11 - 5
17-7577104-A-T c.834T>A p.P278= Synonymous 8/11 - 3
17-7577104-CAG-C c.833_834del p.P278Rfs*27 Frameshift 8/11 - 1
17-7577102-CCAGGACAGGCACAAA-C c.821_835del p.V274_P278del InFrameDeletion 8/11 - 1
17-7577102-CCAGGACAGGCACAAACACGCACCT-C c.812_835del p.E271_P278del InFrameDeletion 8/11 - 1
17-7577103-CAGG-C c.832_834del p.P278del InFrameDeletion 8/11 - 4
17-7577105-AGG-A c.832_833del p.P278Wfs*27 Frameshift 8/11 - 1
17-7577105-G-A c.833C>T p.P278L Missense 8/11 - 211
17-7577105-G-C c.833C>G p.P278R Missense 8/11 - 168
17-7577105-GG-AA c.832_833delinsTT p.P278F Missense 8/11 - 18
17-7577105-GGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGA-AGGG c.789_833delinsCCCT p.L264Pfs*28 Frameshift 8/11 - 1
17-7577105-GG-AT c.832_833delinsAT p.P278I Missense 8/11 - 1
17-7577105-GG-TT c.832_833delinsAA p.P278N Missense 8/11 - 1
17-7577105-G-T c.833C>A p.P278H Missense 8/11 - 97
17-7577103-CAGGACAGGCACAAACACGCACCTCAA-C c.809_834del p.F270Wfs*27 Frameshift 8/11 - 1
17-7577104-AG-A c.833del p.P278Lfs*67 Frameshift 8/11 - 20
17-7577104-AGGACAG-A c.828_833del p.C277_P278del InFrameDeletion 8/11 - 1
17-7577106-G-A c.832C>T p.P278S Missense 8/11 - 279
17-7577106-G-C c.832C>G p.P278A Missense 8/11 - 142
17-7577106-GGACAGGCA-G c.825_832del p.A276Wfs*27 Frameshift 8/11 - 1
17-7577106-GGAC-G c.830_832del p.C277_P278delinsS MultiAAMissense 8/11 - 1
17-7577106-G-GGA c.831_832insTC p.P278Sfs*68 Frameshift 8/11 - 1
17-7577106-G-T c.832C>A p.P278T Missense 8/11 - 102
17-7577102-CCAGGA-C c.831_835del p.C277Wfs*27 Frameshift 8/11 - 1
17-7577106-G-GA c.831dup p.P278Sfs*28 Frameshift 8/11 - 2
17-7577106-G-GATTCTCTTCCTCTGTGCGCCGCGGAA c.831_832insTTCCGCGGCGCACAGAGGAAGAGAAT p.P278Ffs*76 Frameshift 8/11 - 2
17-7577107-A-AT c.830_831insA p.C277* Nonsense 8/11 - 1
17-7577107-A-C c.831T>G p.C277W Missense 8/11 - 28
17-7577107-ACA-TTG c.829_831delinsCAA p.C277Q Missense 8/11 - 2
17-7577107-A-G c.831T>C p.C277= Synonymous 8/11 - 8
17-7577107-A-T c.831T>A p.C277* Nonsense 8/11 - 26
17-7577107-GACA-G c.829_831del p.C277del InFrameDeletion 8/11 - 4
17-7577107-GA-G c.831del p.P278Lfs*67 Frameshift 8/11 - 1
17-7577106-GAC-G c.830_831del p.C277Sfs*28 Frameshift 8/11 - 1
17-7577107-A-AC c.830dup p.C277Wfs*29 Frameshift 8/11 - 1
17-7577108-AC-A c.830del p.C277Ffs*68 Frameshift 8/11 - 2
17-7577108-ACAGGC-A c.826_830del p.A276Sfs*28 Frameshift 8/11 - 1
17-7577108-C-A c.830G>T p.C277F Missense 8/11 - 192
17-7577108-CA-AC c.829_830delinsGT p.C277V Missense 8/11 - 1
17-7577108-CA-GC c.829_830delinsGC p.C277A Missense 8/11 - 13
17-7577108-CA-GG c.829_830delinsCC p.C277P Missense 8/11 - 1
17-7577108-CA-GT c.829_830delinsAC p.C277T Missense 8/11 - 3
17-7577108-CA-TG c.829_830inv p.C277H Missense 8/11 - 1
17-7577108-CA-TT c.829_830delinsAA p.C277N Missense 8/11 - 1
17-7577108-C-T c.830G>A p.C277Y Missense 8/11 - 83
17-7577108-C-CA c.829dup p.C277Lfs*29 Frameshift 8/11 - 2
17-7577108-C-G c.830G>C p.C277S Missense 8/11 - 34
17-7577109-A-ATTCCCCGGC c.828_829insGCCGGGGAA p.A276_C277insAGE InFrameInsertion 8/11 - 1
17-7577109-A-C c.829T>G p.C277G Missense 8/11 - 42
17-7577109-A-G c.829T>C p.C277R Missense 8/11 - 24
17-7577109-A-T c.829T>A p.C277S Missense 8/11 - 31
17-7577109-CA-C c.829del p.C277Vfs*68 Frameshift 8/11 - 6
17-7577106-GACAGGCACAA-G c.822_831del p.C275Lfs*67 Frameshift 8/11 - 2
17-7577106-GACAGGC-G c.826_831del p.A276_C277del InFrameDeletion 8/11 - 2
17-7577107-ACAGG-A c.827_830del p.A276Vfs*68 Frameshift 8/11 - 3
17-7577110-AGGCACAAAC-A c.820_828del p.V274_A276del InFrameDeletion 8/11 - 1
17-7577110-G-A c.828C>T p.A276= Synonymous 8/11 - 3
17-7577110-G-C c.828C>G p.A276= Synonymous 8/11 - 3
17-7577110-GGC-TTG c.826_828delinsCAA p.A276Q Missense 8/11 - 1
17-7577110-G-T c.828C>A p.A276= Synonymous 8/11 - 4
17-7577109-A-AG c.828dup p.C277Lfs*29 Frameshift 8/11 - 1
17-7577109-AG-A c.828del p.C277Vfs*68 Frameshift 8/11 - 8
17-7577111-G-A c.827C>T p.A276V Missense 8/11 - 36
17-7577111-G-C c.827C>G p.A276G Missense 8/11 - 62
17-7577111-GC-AA c.826_827delinsTT p.A276F Missense 8/11 - 5
17-7577111-GC-AG c.826_827delinsCT p.A276L Missense 8/11 - 2
17-7577111-GC-AT c.826_827delinsAT p.A276I Missense 8/11 - 1
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-GGC-G c.826_827del p.A276Lfs*29 Frameshift 8/11 - 3
17-7577111-G-T c.827C>A p.A276D Missense 8/11 - 75
17-7577112-C-A c.826G>T p.A276S Missense 8/11 - 21
17-7577112-C-G c.826G>C p.A276P Missense 8/11 - 77
17-7577112-C-T c.826G>A p.A276T Missense 8/11 - 33
17-7577112-GC-G c.826del p.A276Pfs*69 Frameshift 8/11 - 3
17-7577113-A-C c.825T>G p.C275W Missense 8/11 - 45
17-7577113-A-G c.825T>C p.C275= Synonymous 8/11 - 7
17-7577113-A-T c.825T>A p.C275* Nonsense 8/11 - 20
17-7577113-CA-C c.825del p.C275Wfs*70 Frameshift 8/11 - 1
17-7577113-CACAAACACG-C c.817_825del p.R273_C275del InFrameDeletion 8/11 - 3
17-7577111-GCA-G c.825_826del p.A276Lfs*29 Frameshift 8/11 - 5
17-7577112-CACA-C c.823_825del p.C275del InFrameDeletion 8/11 - 2
17-7577113-A-AC c.824dup p.C275Wfs*31 Frameshift 8/11 - 1
17-7577114-AC-A c.824del p.C275Lfs*70 Frameshift 8/11 - 5
17-7577114-C-A c.824G>T p.C275F Missense 8/11 - 191
17-7577114-CA-GC c.823_824delinsGC p.C275A Missense 8/11 - 9
17-7577114-CA-TG c.823_824inv p.C275H Missense 8/11 - 1
17-7577114-C-CTT c.823_824insAA p.C275* Nonsense 8/11 - 1
17-7577114-C-T c.824G>A p.C275Y Missense 8/11 - 267
17-7577110-GGCACAAACAC-G c.818_827del p.R273Pfs*69 Frameshift 8/11 - 1
17-7577111-GCACAAA-G c.821_826del p.V274_C275del InFrameDeletion 8/11 - 1
17-7577114-C-G c.824G>C p.C275S Missense 8/11 - 68
17-7577115-A-C c.823T>G p.C275G Missense 8/11 - 58
17-7577115-A-G c.823T>C p.C275R Missense 8/11 - 92
17-7577115-A-T c.823T>A p.C275S Missense 8/11 - 38
17-7577112-CACAA-C c.822_825del p.C275Pfs*69 Frameshift 8/11 - 1
17-7577114-CAA-C c.822_823del p.A276Lfs*29 Frameshift 8/11 - 1
17-7577116-A-C c.822T>G p.V274= Synonymous 8/11 - 8
17-7577116-A-G c.822T>C p.V274= Synonymous 8/11 - 7
17-7577116-A-T c.822T>A p.V274= Synonymous 8/11 - 7
17-7577114-CA-C c.823del p.C275Vfs*70 Frameshift 8/11 - 8
17-7577114-C-CA c.823dup p.C275Lfs*31 Frameshift 8/11 - 9
17-7577115-AAAC-A c.820_822del p.V274del InFrameDeletion 8/11 - 1
17-7577117-A-C c.821T>G p.V274G Missense 8/11 - 69
17-7577117-AC-CA c.820_821delinsTG p.V274C Missense 8/11 - 1
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
17-7577117-AC-TA c.820_821delinsTA p.V274Y Missense 8/11 - 1
17-7577117-AC-TG c.820_821delinsCA p.V274H Missense 8/11 - 1
17-7577117-AC-TT c.820_821delinsAA p.V274N Missense 8/11 - 1
17-7577117-A-G c.821T>C p.V274A Missense 8/11 - 85
17-7577117-A-T c.821T>A p.V274D Missense 8/11 - 68
17-7577118-AC-A c.820del p.V274Ffs*71 Frameshift 8/11 - 4
17-7577118-C-A c.820G>T p.V274F Missense 8/11 - 211
17-7577118-C-G c.820G>C p.V274L Missense 8/11 - 73
17-7577118-C-T c.820G>A p.V274I Missense 8/11 - 21
17-7577116-AAC-A c.820_821del p.V274Lfs*31 Frameshift 8/11 - 9
17-7577116-AACACGC-A c.816_821del p.R273_V274del InFrameDeletion 8/11 - 1
17-7577117-A-ACAGGACCTG c.820_821insCAGGTCCTG p.R273_V274insAGP InFrameInsertion 8/11 - 1
17-7577118-C-CA c.819dup p.V274Cfs*32 Frameshift 8/11 - 5
17-7577118-C-CAG c.819_820insCT p.V274Lfs*72 Frameshift 8/11 - 1
17-7577119-A-AGTT c.818_819insAAC p.R273_V274insT InFrameInsertion 8/11 - 1
17-7577119-A-ATGCAC c.818_819insGTGCA p.V274Cfs*73 Frameshift 8/11 - 1
17-7577119-A-C c.819T>G p.R273= Synonymous 8/11 - 7
17-7577119-AC-CCTAA c.818_819delinsTTAGG p.V272_R273insL MultiAAMissense 8/11 - 1
17-7577119-ACG-CCA c.817_819delinsTGG p.R273W Missense 8/11 - 6
17-7577119-ACG-CTT c.817_819delinsAAG p.R273K Missense 8/11 - 10
17-7577119-ACG-TCA c.817_819delinsTGA p.R273* Nonsense 8/11 - 14
17-7577119-AC-TT c.818_819delinsAA p.R273Q Missense 8/11 - 3
17-7577119-A-G c.819T>C p.R273= Synonymous 8/11 - 6
17-7577119-A-T c.819T>A p.R273= Synonymous 8/11 - 6
17-7577119-CA-C c.819del p.V274Ffs*71 Frameshift 8/11 - 1
17-7577119-CACGCACCTCAAAGCTGTT-C c.802_819del p.N268_R273del InFrameDeletion 8/11 - 1
17-7577117-ACACGCACCT-A c.812_820del p.E271_R273del InFrameDeletion 8/11 - 4
17-7577118-CACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGA-C c.783-22_819del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 8/11 7/10 1
17-7577118-CACGCACCTCA-C c.810_819del p.F270Lfs*72 Frameshift 8/11 - 1
17-7577119-A-AC c.818dup p.V274Cfs*32 Frameshift 8/11 - 1
17-7577120-AC-A c.818del p.R273Lfs*72 Frameshift 8/11 - 5
17-7577120-C-A c.818G>T p.R273L Missense 8/11 - 430
17-7577120-C-CT c.817_818insA p.R273Qfs*33 Frameshift 8/11 - 1
17-7577120-C-CTTTT c.817_818insAAAA p.R273Qfs*34 Frameshift 8/11 - 1
17-7577120-C-G c.818G>C p.R273P Missense 8/11 - 168
17-7577120-CG-GC c.817_818delinsGC p.R273A Missense 8/11 - 3
17-7577120-CG-TA c.817_818delinsTA p.R273Y Missense 8/11 - 9
17-7577120-CG-TT c.817_818delinsAA p.R273N Missense 8/11 - 4
17-7577120-C-T c.818G>A p.R273H Missense 8/11 - 2287
17-7577117-ACACG-A c.817_820del p.R273Ffs*71 Frameshift 8/11 - 1
17-7577119-ACG-A c.817_818del p.R273Cfs*32 Frameshift 8/11 - 2
17-7577120-C-CGAA c.817_818insTTC p.V272_R273insL InFrameInsertion 8/11 - 1
17-7577121-CG-C c.817del p.R273Vfs*72 Frameshift 8/11 - 5
17-7577121-CGCA-C c.815_817del p.V272_R273delinsG MultiAAMissense 8/11 - 1
17-7577121-G-A c.817C>T p.R273C Missense 8/11 - 1157
17-7577121-G-C c.817C>G p.R273G Missense 8/11 - 132
17-7577121-G-T c.817C>A p.R273S Missense 8/11 - 161
17-7577119-ACGCACCTCAAAGCTGTTC-A c.801_818del p.N268_R273del InFrameDeletion 8/11 - 1
17-7577120-CGCACCTCAAAGCTGTTCCGTCCCA-C c.794_817del p.L265_V272del InFrameDeletion 8/11 - 1
17-7577121-G-GC c.816dup p.R273Afs*33 Frameshift 8/11 - 1
17-7577122-C-A c.816G>T p.V272= Synonymous 8/11 - 11
17-7577122-CAC-ACA c.814_816delinsTGT p.V272C Missense 8/11 - 1
17-7577122-CA-GT c.815_816delinsAC p.V272D Missense 8/11 - 1
17-7577122-C-G c.816G>C p.V272= Synonymous 8/11 - 9
17-7577122-C-T c.816G>A p.V272= Synonymous 8/11 - 13
17-7577122-GCACCTCAAAGC-G c.806_816del p.S269Tfs*33 Frameshift 8/11 - 1
17-7577120-CGCACCTCAAA-C c.808_817del p.F270Vfs*72 Frameshift 8/11 - 4
17-7577121-GCAC-G c.814_816del p.V272del InFrameDeletion 8/11 - 2
17-7577121-GCA-G c.815_816del p.V272Afs*33 Frameshift 8/11 - 4
17-7577122-C-CA c.815dup p.R273Afs*33 Frameshift 8/11 - 1
17-7577123-A-C c.815T>G p.V272G Missense 8/11 - 63
17-7577123-AC-TT c.814_815delinsAA p.V272K Missense 8/11 - 4
17-7577123-A-G c.815T>C p.V272A Missense 8/11 - 32
17-7577123-A-T c.815T>A p.V272E Missense 8/11 - 46
17-7577123-CA-C c.815del p.V272Gfs*73 Frameshift 8/11 - 1
17-7577121-GCACCT-G c.812_816del p.E271Afs*33 Frameshift 8/11 - 3
17-7577122-CACCTCAAAGCTGTTCCGTCCCAGT-C c.792_815del p.L265_V272del InFrameDeletion 8/11 - 1
17-7577124-ACC-A c.813_814del p.E271Dfs*34 Frameshift 8/11 - 1
17-7577124-C-A c.814G>T p.V272L Missense 8/11 - 184
17-7577124-CC-TA c.813_814delinsTA p.E271_V272delinsDM MultiAAMissense 8/11 - 2
17-7577124-C-G c.814G>C p.V272L Missense 8/11 - 135
17-7577124-C-T c.814G>A p.V272M Missense 8/11 - 303
17-7577121-GCACCTCAAAGCTGTTCCGTCCCAGTAGATTAC-G c.785_816del p.G262Afs*33 Frameshift 8/11 7/10 1
17-7577123-AC-A c.814del p.V272Cfs*73 Frameshift 8/11 - 12
17-7577123-ACCTCAAAG-A c.807_814del p.F270Afs*33 Frameshift 8/11 - 1
17-7577123-ACCTCAAAGCTGTTCCGTCCCAGTAGATTAC-A c.785_814del p.G262_E271del InFrameDeletion 8/11 - 1
17-7577125-C-A c.813G>T p.E271D Missense 8/11 - 10
17-7577125-C-G c.813G>C p.E271D Missense 8/11 - 8
17-7577125-C-T c.813G>A p.E271= Synonymous 8/11 - 4
17-7577125-CTC-AAA c.811_813delinsTTT p.E271F Missense 8/11 - 1
17-7577125-CTC-GTT c.811_813delinsAAC p.E271N Missense 8/11 - 1
17-7577123-ACCTCAAAGCTGTTCCGTC-A c.797_814del p.G266_E271del InFrameDeletion 8/11 - 2
17-7577125-C-CT c.812dup p.V272Gfs*34 Frameshift 8/11 - 1
17-7577125-C-CTG c.812_813insCA p.E271Dfs*75 Frameshift 8/11 - 1
17-7577126-CT-C c.812del p.E271Gfs*74 Frameshift 8/11 - 4
17-7577126-CTCA-C c.810_812del p.F270_E271delinsL MultiAAMissense 8/11 - 1
17-7577126-T-A c.812A>T p.E271V Missense 8/11 - 51
17-7577126-T-C c.812A>G p.E271G Missense 8/11 - 13
17-7577126-TC-CT c.811_812delinsAG p.E271R Missense 8/11 - 2
17-7577126-TC-GA c.811_812inv p.E271S Missense 8/11 - 1
17-7577126-TC-GG c.811_812delinsCC p.E271P Missense 8/11 - 3
17-7577126-T-G c.812A>C p.E271A Missense 8/11 - 10
17-7577126-T-TA c.811_812insT p.E271Vfs*35 Frameshift 8/11 - 1
17-7577126-T-TC c.811dup p.E271Gfs*35 Frameshift 8/11 - 1
17-7577127-C-A c.811G>T p.E271* Nonsense 8/11 - 69
17-7577127-C-G c.811G>C p.E271Q Missense 8/11 - 49
17-7577127-C-T c.811G>A p.E271K Missense 8/11 - 150
17-7577127-TCAAAGC-T c.806_811del p.S269_E271delinsK MultiAAMissense 8/11 - 1
17-7577126-TCAAAGCTGTTCCGTC-T c.797_811del p.G266_F270del InFrameDeletion 8/11 - 1
17-7577128-AA-CC c.809_810delinsGG p.F270W Missense 8/11 - 3
17-7577128-AA-TT c.809_810inv p.F270* Nonsense 8/11 - 1
17-7577128-CAAAG-C c.807_810del p.S269Rfs*75 Frameshift 8/11 - 1
17-7577128-CAAAGCT-C c.805_810del p.S269_F270del InFrameDeletion 8/11 - 1
17-7577126-TCAAAGCTGTTCCGTCCCAGTAGATTAC-T c.785_811del p.G262_F270del InFrameDeletion 8/11 - 2
17-7577126-TCAAAGCTGTTCCGTCC-T c.796_811del p.G266Rfs*74 Frameshift 8/11 - 4
17-7577129-AAAGC-A c.806_809del p.S269Mfs*75 Frameshift 8/11 - 1
17-7577129-AA-GC c.808_809delinsGC p.F270A Missense 8/11 - 5
17-7577129-A-C c.809T>G p.F270C Missense 8/11 - 66
17-7577129-A-G c.809T>C p.F270S Missense 8/11 - 110
17-7577129-A-T c.809T>A p.F270Y Missense 8/11 - 13
17-7577127-CA-C c.810del p.F270Lfs*75 Frameshift 8/11 - 7
17-7577127-C-CA c.810dup p.E271* Nonsense 8/11 - 6
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
17-7577128-A-C c.810T>G p.F270L Missense 8/11 - 63
17-7577128-A-T c.810T>A p.F270L Missense 8/11 - 67
17-7577130-AAGC-A c.806_808del p.S269_F270delinsI MultiAAMissense 8/11 - 2
17-7577130-AAGCTGTTCCGTCC-A c.796_808del p.G266Lfs*75 Frameshift 8/11 - 3
17-7577130-AAGCTGTTCCGTCCCAG-A c.793_808del p.G266Rfs*74 Frameshift 8/11 - 1
17-7577130-A-C c.808T>G p.F270V Missense 8/11 - 54
17-7577130-A-G c.808T>C p.F270L Missense 8/11 - 86
17-7577130-A-T c.808T>A p.F270I Missense 8/11 - 58
17-7577131-AGC-A c.806_807del p.S269Ifs*2 Frameshift 8/11 - 1
17-7577131-AGCTGTTCCG-A c.799_807del p.R267_S269del InFrameDeletion 8/11 - 1
17-7577131-AGCTGTTCCGTCCCAGTAGATTACC-A c.784_807del p.G262_S269del InFrameDeletion 8/11 - 2
17-7577131-G-A c.807C>T p.S269= Synonymous 8/11 - 5
17-7577131-G-C c.807C>G p.S269R Missense 8/11 - 8
17-7577131-GCT-CTC c.805_807delinsGAG p.S269E Missense 8/11 - 3
17-7577131-G-T c.807C>A p.S269R Missense 8/11 - 8
17-7577133-T-G c.805A>C p.S269R Missense 8/11 - 8
17-7577130-AGCT-A c.805_807del p.S269del InFrameDeletion 8/11 - 1
17-7577132-C-A c.806G>T p.S269I Missense 8/11 - 10
17-7577132-C-G c.806G>C p.S269T Missense 8/11 - 10
17-7577132-C-T c.806G>A p.S269N Missense 8/11 - 26
17-7577132-CT-AA c.805_806delinsTT p.S269F Missense 8/11 - 1
17-7577132-CT-AG c.805_806inv p.S269L Missense 8/11 - 1
17-7577132-CT-GC c.805_806delinsGC p.S269A Missense 8/11 - 4
17-7577132-CT-GG c.805_806delinsCC p.S269P Missense 8/11 - 2
17-7577132-CT-TA c.805_806delinsTA p.S269Y Missense 8/11 - 1
17-7577132-CT-TC c.805_806delinsGA p.S269D Missense 8/11 - 2
17-7577132-GC-G c.806del p.S269Tfs*76 Frameshift 8/11 - 3
17-7577132-GCTGT-G c.803_806del p.N268Tfs*76 Frameshift 8/11 - 2
17-7577132-GCTGTTCC-G c.800_806del p.R267Pfs*76 Frameshift 8/11 - 2
17-7577131-GCTGTTCCGTCCCAGTAGATTA-G c.786_806del p.N263_S269del InFrameDeletion 8/11 - 1
17-7577133-T-A c.805A>T p.S269C Missense 8/11 - 10
17-7577133-T-C c.805A>G p.S269G Missense 8/11 - 11
17-7577132-CTGT-C c.803_805del p.N268del InFrameDeletion 8/11 - 4
17-7577132-CTGTTCCGTCCCAG-C c.793_805del p.L265Afs*76 Frameshift 8/11 - 2
17-7577133-T-TG c.804dup p.S269Qfs*3 Frameshift 8/11 - 1
17-7577134-G-A c.804C>T p.N268= Synonymous 8/11 - 2
17-7577134-G-C c.804C>G p.N268K Missense 8/11 - 5
17-7577134-G-T c.804C>A p.N268K Missense 8/11 - 4
17-7577134-GT-CC c.803_804delinsGG p.N268R Missense 8/11 - 4
17-7577134-GTT-TTA c.802_804delinsTAA p.N268* Nonsense 8/11 - 1
17-7577134-TG-T c.804del p.N268Kfs*77 Frameshift 8/11 - 1
17-7577134-TGTTCCGTCCCAGTAG-T c.790_804del p.L264_N268del InFrameDeletion 8/11 - 3
17-7577134-TGTTCCGTCC-T c.796_804del p.G266_N268del InFrameDeletion 8/11 - 2
17-7577135-T-A c.803A>T p.N268I Missense 8/11 - 23
17-7577135-T-C c.803A>G p.N268S Missense 8/11 - 12
17-7577135-T-G c.803A>C p.N268T Missense 8/11 - 4
17-7577135-TT-AA c.802_803inv p.N268F Missense 8/11 - 3
17-7577135-T-TC c.802_803insG p.N268Rfs*4 Frameshift 8/11 - 1
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 - 4
17-7577136-T-A c.802A>T p.N268Y Missense 8/11 - 7
17-7577136-T-C c.802A>G p.N268D Missense 8/11 - 43
17-7577136-T-G c.802A>C p.N268H Missense 8/11 - 13
17-7577136-T-TA c.801_802insT p.N268* Nonsense 8/11 - 3
17-7577136-TTCC-T c.800_802del p.R267_N268delinsH MultiAAMissense 8/11 - 2
17-7577136-TTC-T c.801_802del p.N268Qfs*3 Frameshift 8/11 - 4
17-7577134-GTTCCGTCCCAGTAGA-G c.789_803del p.L264_N268del InFrameDeletion 8/11 - 2
17-7577137-C-CA c.800_801insT p.N268Efs*4 Frameshift 8/11 - 1
17-7577137-CC-AT c.800_801delinsAT p.R267H Missense 8/11 - 7
17-7577137-CCG-ACA c.799_801delinsTGT p.R267C Missense 8/11 - 1
17-7577137-TCCG-T c.799_801del p.R267del InFrameDeletion 8/11 - 2
17-7577137-TCCGTCCCAG-T c.793_801del p.L265_R267del InFrameDeletion 8/11 - 2
17-7577137-TCCGTCCCAGTAGATTACC-T c.784_801del p.G262_R267del SpliceAcceptorDeletion 8/11 - 1
17-7577137-TCCGTCCCAGTAG-T c.790_801del p.L264_R267del InFrameDeletion 8/11 - 1
17-7577136-TCCGTCC-T c.796_801del p.G266_R267del InFrameDeletion 8/11 - 1
17-7577136-TC-T c.801del p.N268Tfs*77 Frameshift 8/11 - 6
17-7577136-T-TC c.801dup p.N268Efs*4 Frameshift 8/11 - 4
17-7577138-C-A c.800G>T p.R267L Missense 8/11 - 40
17-7577138-C-G c.800G>C p.R267P Missense 8/11 -