TP53 tumor protein p53

Canonical transcript: NM_000546

2702 unique variant annotations were identified in 5175 publications
Gene-Specific Resource Links:
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ClinVar
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 - 72
17-7571857-G-A c.*1070C>T - 3-UTRSNV 11/11 - 2
17-7571857-G-C c.*1070C>G - 3-UTRSNV 11/11 - 2
17-7571991-T-C c.*936A>G - 3-UTRSNV 11/11 - 1
17-7572041-C-T c.*886G>A - 3-UTRSNV 11/11 - 2
17-7572072-G-A c.*855C>T - 3-UTRSNV 11/11 - 1
17-7572101-C-T c.*826G>A - 3-UTRSNV 11/11 - 10
17-7572129-A-AA c.*800dup - 3-UTRInsertion 11/11 - 1
17-7572293-C-G c.*634G>C - 3-UTRSNV 11/11 - 1
17-7572314-G-T c.*613C>A - 3-UTRSNV 11/11 - 1
17-7572314-G-C c.*613C>G - 3-UTRSNV 11/11 - 1
17-7572392-GA-AG c.*534_*535delinsCT - 3-UTRBlockSubstitution 11/11 - 1
17-7572393-A-G c.*534T>C - 3-UTRSNV 11/11 - 1
17-7572413-A-G c.*514T>C - 3-UTRSNV 11/11 - 2
17-7572436-C-T c.*491G>A - 3-UTRSNV 11/11 - 2
17-7572442-C-T c.*485G>A - 3-UTRSNV 11/11 - 7
17-7572599-C-T c.*328G>A - 3-UTRSNV 11/11 - 2
17-7572613-C-T c.*314G>A - 3-UTRSNV 11/11 - 1
17-7572618-C-A c.*309G>T - 3-UTRSNV 11/11 - 1
17-7572722-C-T c.*205G>A - 3-UTRSNV 11/11 - 2
17-7572822-G-A c.*105C>T - 3-UTRSNV 11/11 - 1
17-7572890-T-C c.*37A>G - 3-UTRSNV 11/11 - 3
17-7572890-T-A c.*37A>T - 3-UTRSNV 11/11 - 3
17-7572918-T-G c.*9A>C - 3-UTRSNV 11/11 - 1
17-7572927-GTCAGTCTGAGTCAGGCCCTTCTGTCTTGAACATGAGTTTTTTATGGCGGGAGGTAGACT-G c.1124_1182del p.Gln375Profs*76 Multi:SpliceAcceptorDeletion,CdsStopDeletion 11/11 - 2
17-7572933-TGA-GAC c.1174_1176delinsGTC p.Ser392Val Missense 11/11 - 4
17-7572935-A-G c.1174T>C p.Ser392Pro Missense 11/11 - 1
17-7572935-A-C c.1174T>G p.Ser392Ala Missense 11/11 - 29
17-7572938-C-A c.1171G>T p.Asp391Tyr Missense 11/11 - 1
17-7572941-G-A c.1168C>T p.Pro390Ser Missense 11/11 - 1
17-7572942-C-T c.1167G>A p.Gly389Gly Synonymous 11/11 - 2
17-7572942-C-A c.1167G>T p.Gly389Gly Synonymous 11/11 - 2
17-7572942-C-G c.1167G>C p.Gly389Gly Synonymous 11/11 - 2
17-7572943-C-T c.1166G>A p.Gly389Glu Missense 11/11 - 3
17-7572944-C-A c.1165G>T p.Gly389Trp Missense 11/11 - 3
17-7572944-C-G c.1165G>C p.Gly389Arg Missense 11/11 - 1
17-7572944-C-T c.1165G>A p.Gly389Arg Missense 11/11 - 1
17-7572946-T-G c.1163A>C p.Glu388Ala Missense 11/11 - 4
17-7572950-T-C c.1159A>G p.Thr387Ala Missense 11/11 - 2
17-7572951-C-A c.1158G>T p.Lys386Asn Missense 11/11 - 1
17-7572951-C-G c.1158G>C p.Lys386Asn Missense 11/11 - 1
17-7572952-T-A c.1157A>T p.Lys386Met Missense 11/11 - 1
17-7572952-TT-GC c.1156_1157delinsGC p.Lys386Ala Missense 11/11 - 1
17-7572952-T-C c.1157A>G p.Lys386Arg Missense 11/11 - 30
17-7572955-AA-GC c.1153_1154delinsGC p.Phe385Ala Missense 11/11 - 2
17-7572957-C-A c.1152G>T p.Met384Ile Missense 11/11 - 1
17-7572957-C-T c.1152G>A p.Met384Ile Missense 11/11 - 1
17-7572957-C-G c.1152G>C p.Met384Ile Missense 11/11 - 1
17-7572961-AG-GC c.1147_1148delinsGC p.Leu383Ala Missense 11/11 - 2
17-7572962-G-A c.1147C>T p.Leu383Phe Missense 11/11 - 2
17-7572963-T-G c.1146A>C p.Lys382Asn Missense 11/11 - 1
17-7572963-T-A c.1146A>T p.Lys382Asn Missense 11/11 - 1
17-7572963-GTTTTTTATGGCGGGAG-G c.1134_1149del p.Arg379Cysfs*38 Frameshift 11/11 - 1
17-7572964-T-C c.1145A>G p.Lys382Arg Missense 11/11 - 30
17-7572964-TT-GC c.1144_1145delinsGC p.Lys382Ala Missense 11/11 - 4
17-7572964-T-G c.1145A>C p.Lys382Thr Missense 11/11 - 1
17-7572965-T-TA c.1143_1144insT p.Lys382* Nonsense 11/11 - 3
17-7572965-T-G c.1144A>C p.Lys382Gln Missense 11/11 - 7
17-7572967-T-C c.1142A>G p.Lys381Arg Missense 11/11 - 9
17-7572967-T-G c.1142A>C p.Lys381Thr Missense 11/11 - 1
17-7572967-TT-GC c.1141_1142delinsGC p.Lys381Ala Missense 11/11 - 4
17-7572968-T-G c.1141A>C p.Lys381Gln Missense 11/11 - 4
17-7572969-ATG-TGG c.1139_1140delinsCA p.His380Pro Missense 11/11 - 1
17-7572972-GC-AA c.1136_1137delinsTT p.Arg379Leu Missense 11/11 - 1
17-7572973-CG-AT c.1135_1136delinsAT p.Arg379Ile Missense 11/11 - 1
17-7572973-CG-GC c.1135_1136delinsGC p.Arg379Ala Missense 11/11 - 1
17-7572973-C-G c.1136G>C p.Arg379Pro Missense 11/11 - 1
17-7572973-C-T c.1136G>A p.Arg379His Missense 11/11 - 3
17-7572975-GGA-GAG c.1132_1133delinsCT p.Ser378Leu Missense 11/11 - 1
17-7572977-A-G c.1132T>C p.Ser378Pro Missense 11/11 - 3
17-7572977-A-C c.1132T>G p.Ser378Ala Missense 11/11 - 6
17-7572979-G-A c.1130C>T p.Thr377Ile Missense 11/11 - 1
17-7572980-T-G c.1129A>C p.Thr377Pro Missense 11/11 - 2
17-7572980-T-C c.1129A>G p.Thr377Ala Missense 11/11 - 4
17-7572983-A-C c.1126T>G p.Ser376Ala Missense 11/11 - 7
17-7572986-G-A c.1123C>T p.Gln375* Nonsense 11/11 - 1
17-7572989-C-G c.1120G>C p.Gly374Arg Missense 11/11 - 1
17-7572991-T-C c.1118A>G p.Lys373Arg Missense 11/11 - 18
17-7572992-T-TA c.1116_1117insT p.Lys373* Nonsense 11/11 - 1
17-7572992-T-G c.1117A>C p.Lys373Gln Missense 11/11 - 5
17-7572994-T-G c.1115A>C p.Lys372Thr Missense 11/11 - 1
17-7572994-T-C c.1115A>G p.Lys372Arg Missense 11/11 - 7
17-7572995-TT-T c.1118del p.Lys373Argfs*49 Frameshift 11/11 - 1
17-7572995-T-G c.1114A>C p.Lys372Gln Missense 11/11 - 1
17-7572996-G-T c.1113C>A p.Ser371Ser Synonymous 11/11 - 1
17-7572998-A-C c.1111T>G p.Ser371Ala Missense 11/11 - 3
17-7572999-CTT-TGT c.1109_1110delinsCA p.Lys370Thr Missense 11/11 - 1
17-7573000-TT-GC c.1108_1109delinsGC p.Lys370Ala Missense 11/11 - 3
17-7573000-T-C c.1109A>G p.Lys370Arg Missense 11/11 - 16
17-7573001-T-G c.1108A>C p.Lys370Gln Missense 11/11 - 2
17-7573001-T-C c.1108A>G p.Lys370Glu Missense 11/11 - 1
17-7573003-AG-TA c.1105_1106delinsTA p.Leu369* Nonsense 11/11 - 1
17-7573006-T-G c.1103A>C p.His368Pro Missense 11/11 - 1
17-7573010-T-A c.1101-2A>T - IntronicSNV - 10/10 1
17-7573010-T-G c.1101-2A>C - IntronicSNV - 10/10 1
17-7573057-G-A c.1101-49C>T - IntronicSNV - 10/10 2
17-7573081-C-G c.1101-73G>C - IntronicSNV - 10/10 1
17-7573229-C-T c.1101-221G>A - IntronicSNV - 10/10 3
17-7573851-A-T c.1100+76T>A - IntronicSNV - 10/10 1
17-7573897-T-G c.1100+30A>C - IntronicSNV - 10/10 3
17-7573897-T-C c.1100+30A>G - IntronicSNV - 10/10 3
17-7573897-T-A c.1100+30A>T - IntronicSNV - 10/10 4
17-7573920-C-T c.1100+7G>A - IntronicSNV - 10/10 1
17-7573927-CT-GA c.1099_1100delinsTC p.Ser367Ser Missense 10/11 - 2
17-7573927-CT-GC c.1099_1100delinsGC p.Ser367Ala Missense 10/11 - 5
17-7573927-C-T c.1100G>A p.Ser367Asn Missense 10/11 - 1
17-7573929-GGA-GAG c.1096_1097delinsCT p.Ser366Leu Missense 10/11 - 1
17-7573929-G-A c.1098C>T p.Ser366Ser Synonymous 10/11 - 1
17-7573930-G-A c.1097C>T p.Ser366Phe Missense 10/11 - 1
17-7573931-A-G c.1096T>C p.Ser366Pro Missense 10/11 - 2
17-7573931-A-C c.1096T>G p.Ser366Ala Missense 10/11 - 16
17-7573931-A-T c.1096T>A p.Ser366Thr Missense 10/11 - 1
17-7573934-G-A c.1093C>T p.His365Tyr Missense 10/11 - 3
17-7573935-A-T c.1092T>A p.Ala364Ala Synonymous 10/11 - 4
17-7573935-A-C c.1092T>G p.Ala364Ala Synonymous 10/11 - 4
17-7573935-A-G c.1092T>C p.Ala364Ala Synonymous 10/11 - 4
17-7573936-G-T c.1091C>A p.Ala364Asp Missense 10/11 - 1
17-7573937-C-A c.1090G>T p.Ala364Ser Missense 10/11 - 1
17-7573939-C-T c.1088G>A p.Arg363Lys Missense 10/11 - 1
17-7573939-CT-GC c.1087_1088delinsGC p.Arg363Ala Missense 10/11 - 1
17-7573942-C-T c.1085G>A p.Ser362Asn Missense 10/11 - 1
17-7573942-CT-GA c.1084_1085delinsTC p.Ser362Ser Missense 10/11 - 1
17-7573942-CT-GC c.1084_1085delinsGC p.Ser362Ala Missense 10/11 - 1
17-7573943-T-A c.1084A>T p.Ser362Cys Missense 10/11 - 1
17-7573945-C-T c.1082G>A p.Gly361Glu Missense 10/11 - 2
17-7573946-C-T c.1081G>A p.Gly361Arg Missense 10/11 - 2
17-7573948-C-G c.1079G>C p.Gly360Ala Missense 10/11 - 11
17-7573948-C-A c.1079G>T p.Gly360Val Missense 10/11 - 3
17-7573949-C-T c.1078G>A p.Gly360Arg Missense 10/11 - 1
17-7573949-C-G c.1078G>C p.Gly360Arg Missense 10/11 - 1
17-7573951-G-A c.1076C>T p.Pro359Leu Missense 10/11 - 1
17-7573952-G-A c.1075C>T p.Pro359Ser Missense 10/11 - 2
17-7573952-G-C c.1075C>G p.Pro359Ala Missense 10/11 - 1
17-7573953-C-G c.1074G>C p.Glu358Asp Missense 10/11 - 1
17-7573953-C-A c.1074G>T p.Glu358Asp Missense 10/11 - 1
17-7573954-T-A c.1073A>T p.Glu358Val Missense 10/11 - 2
17-7573955-C-T c.1072G>A p.Glu358Lys Missense 10/11 - 2
17-7573957-T-C c.1070A>G p.Lys357Arg Missense 10/11 - 3
17-7573958-T-G c.1069A>C p.Lys357Gln Missense 10/11 - 1
17-7573959-C-T c.1068G>A p.Gly356Gly Synonymous 10/11 - 1
17-7573960-C-G c.1067G>C p.Gly356Ala Missense 10/11 - 1
17-7573961-C-A c.1066G>T p.Gly356Trp Missense 10/11 - 1
17-7573961-C-T c.1066G>A p.Gly356Arg Missense 10/11 - 1
17-7573961-C-G c.1066G>C p.Gly356Arg Missense 10/11 - 1
17-7573962-AGC-AAG c.1063_1064delinsCT p.Ala355Leu Missense 10/11 - 1
17-7573964-C-T c.1063G>A p.Ala355Thr Missense 10/11 - 1
17-7573964-C-G c.1063G>C p.Ala355Pro Missense 10/11 - 1
17-7573966-T-C c.1061A>G p.Gln354Arg Missense 10/11 - 1
17-7573967-G-C c.1060C>G p.Gln354Glu Missense 10/11 - 1
17-7573967-G-T c.1060C>A p.Gln354Lys Missense 10/11 - 1
17-7573970-C-T c.1057G>A p.Ala353Thr Missense 10/11 - 1
17-7573972-T-G c.1055A>C p.Asp352Ala Missense 10/11 - 1
17-7573973-C-A c.1054G>T p.Asp352Tyr Missense 10/11 - 1
17-7573973-C-T c.1054G>A p.Asp352Asn Missense 10/11 - 1
17-7573974-C-G c.1053G>C p.Lys351Asn Missense 10/11 - 8
17-7573974-C-A c.1053G>T p.Lys351Asn Missense 10/11 - 8
17-7573975-TT-GC c.1051_1052delinsGC p.Lys351Ala Missense 10/11 - 1
17-7573975-T-C c.1052A>G p.Lys351Arg Missense 10/11 - 3
17-7573976-T-A c.1051A>T p.Lys351* Nonsense 10/11 - 1
17-7573976-T-G c.1051A>C p.Lys351Gln Missense 10/11 - 1
17-7573976-T-C c.1051A>G p.Lys351Glu Missense 10/11 - 3
17-7573978-A-G c.1049T>C p.Leu350Pro Missense 10/11 - 3
17-7573978-AG-GC c.1048_1049delinsGC p.Leu350Ala Missense 10/11 - 4
17-7573980-T-G c.1047A>C p.Glu349Asp Missense 10/11 - 1
17-7573980-T-A c.1047A>T p.Glu349Asp Missense 10/11 - 1
17-7573982-C-T c.1045G>A p.Glu349Lys Missense 10/11 - 2
17-7573982-C-A c.1045G>T p.Glu349* Nonsense 10/11 - 7
17-7573983-C-A c.1044G>T p.Leu348Phe Missense 10/11 - 1
17-7573983-C-G c.1044G>C p.Leu348Phe Missense 10/11 - 1
17-7573984-A-G c.1043T>C p.Leu348Ser Missense 10/11 - 2
17-7573984-AA-GA c.1043delinsC p.Leu348Ser Missense 10/11 - 1
17-7573984-AA-GC c.1042_1043delinsGC p.Leu348Ala Missense 10/11 - 12
17-7573987-G-T c.1040C>A p.Ala347Asp Missense 10/11 - 3
17-7573987-G-A c.1040C>T p.Ala347Val Missense 10/11 - 3
17-7573987-GGCCTCATTCAGCTCTCGGAACATCTCGAAGCGCTCACGCCCACGGATCTGCAGCAACAG-G c.994-10_1042del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/11 9/10 1
17-7573988-C-T c.1039G>A p.Ala347Thr Missense 10/11 - 5
17-7573988-C-G c.1039G>C p.Ala347Pro Missense 10/11 - 2
17-7573989-C-T c.1038G>A p.Glu346Glu Synonymous 10/11 - 1
17-7573990-T-C c.1037A>G p.Glu346Gly Missense 10/11 - 2
17-7573990-T-G c.1037A>C p.Glu346Ala Missense 10/11 - 1
17-7573991-C-T c.1036G>A p.Glu346Lys Missense 10/11 - 2
17-7573991-C-A c.1036G>T p.Glu346* Nonsense 10/11 - 5
17-7573992-A-T c.1035T>A p.Asn345Lys Missense 10/11 - 2
17-7573992-A-C c.1035T>G p.Asn345Lys Missense 10/11 - 2
17-7573993-T-C c.1034A>G p.Asn345Ser Missense 10/11 - 3
17-7573994-T-C c.1033A>G p.Asn345Asp Missense 10/11 - 2
17-7573995-CAG-TAT c.1030_1032delinsATA p.Leu344Ile Missense 10/11 - 1
17-7573996-A-C c.1031T>G p.Leu344Arg Missense 10/11 - 5
17-7573996-AG-GC c.1030_1031delinsGC p.Leu344Ala Missense 10/11 - 23
17-7573996-AG-GA c.1030_1031delinsTC p.Leu344Ser Missense 10/11 - 1
17-7573996-A-T c.1031T>A p.Leu344Gln Missense 10/11 - 3
17-7573996-A-G c.1031T>C p.Leu344Pro Missense 10/11 - 41
17-7573999-T-G c.1028A>C p.Glu343Ala Missense 10/11 - 3
17-7573999-T-C c.1028A>G p.Glu343Gly Missense 10/11 - 1
17-7574000-C-T c.1027G>A p.Glu343Lys Missense 10/11 - 3
17-7574000-C-A c.1027G>T p.Glu343* Nonsense 10/11 - 5
17-7574001-TC-AT c.1025_1026delinsAT p.Arg342His Missense 10/11 - 1
17-7574002-C-G c.1025G>C p.Arg342Pro Missense 10/11 - 14
17-7574002-CG-GC c.1024_1025delinsGC p.Arg342Ala Missense 10/11 - 1
17-7574002-CG-GA c.1024_1025delinsTC p.Arg342Ser Missense 10/11 - 1
17-7574002-C-T c.1025G>A p.Arg342Gln Missense 10/11 - 2
17-7574003-CGGAAC-C c.1021_1025del p.Phe341Argfs*4 Frameshift 10/11 - 1
17-7574003-G-A c.1024C>T p.Arg342* Nonsense 10/11 - 74
17-7574003-G-C c.1024C>G p.Arg342Gly Missense 10/11 - 2
17-7574004-G-A c.1023C>T p.Phe341Phe Synonymous 10/11 - 1
17-7574004-GG-G c.1024del p.Arg342Glufs*3 Frameshift 10/11 - 4
17-7574004-GAA-AAG c.1021_1023delinsCTT p.Phe341Leu Missense 10/11 - 1
17-7574005-A-C c.1022T>G p.Phe341Cys Missense 10/11 - 3
17-7574005-A-T c.1022T>A p.Phe341Tyr Missense 10/11 - 1
17-7574005-AA-GC c.1021_1022delinsGC p.Phe341Ala Missense 10/11 - 1
17-7574006-AACATCTCGAAGCGCTCA-A c.1006_1022del p.Glu336Profs*5 Frameshift 10/11 - 1
17-7574004-G-T c.1023C>A p.Phe341Leu Missense 10/11 - 2
17-7574006-A-G c.1021T>C p.Phe341Leu Missense 10/11 - 2
17-7574006-A-C c.1021T>G p.Phe341Val Missense 10/11 - 3
17-7574006-A-T c.1021T>A p.Phe341Ile Missense 10/11 - 3
17-7574004-G-C c.1023C>G p.Phe341Leu Missense 10/11 - 2
17-7574006-A-AA c.1022dup p.Arg342Profs*5 Frameshift 10/11 - 1
17-7574008-AT-GC c.1018_1019delinsGC p.Met340Ala Missense 10/11 - 1
17-7574008-AT-GA c.1018_1019delinsTC p.Met340Ser Missense 10/11 - 2
17-7574008-A-G c.1019T>C p.Met340Thr Missense 10/11 - 1
17-7574008-A-T c.1019T>A p.Met340Lys Missense 10/11 - 1
17-7574008-AT-CA c.1018_1019delinsTG p.Met340Trp Missense 10/11 - 5
17-7574009-ATCT-A c.1016_1018del p.Glu339_Met340delinsVal MultiAAMissense 10/11 - 1
17-7574009-T-C c.1018A>G p.Met340Val Missense 10/11 - 2
17-7574010-C-G c.1017G>C p.Glu339Asp Missense 10/11 - 2
17-7574010-C-A c.1017G>T p.Glu339Asp Missense 10/11 - 2
17-7574011-T-A c.1016A>T p.Glu339Val Missense 10/11 - 1
17-7574012-C-G c.1015G>C p.Glu339Gln Missense 10/11 - 2
17-7574012-C-A c.1015G>T p.Glu339* Nonsense 10/11 - 6
17-7574012-C-T c.1015G>A p.Glu339Lys Missense 10/11 - 12
17-7574013-G-A c.1014C>T p.Phe338Phe Synonymous 10/11 - 1
17-7574013-CG-C c.1014del p.Phe338Leufs*7 Frameshift 10/11 - 1
17-7574014-A-C c.1013T>G p.Phe338Cys Missense 10/11 - 1
17-7574014-AA-GG c.1012_1013delinsCC p.Phe338Pro Missense 10/11 - 1
17-7574015-A-G c.1012T>C p.Phe338Leu Missense 10/11 - 2
17-7574015-A-T c.1012T>A p.Phe338Ile Missense 10/11 - 2
17-7574016-AGCGCTCACGCCC-A c.1000_1011del p.Gly334_Arg337del InFrameDeletion 10/11 - 1
17-7574017-C-A c.1010G>T p.Arg337Leu Missense 10/11 - 23
17-7574017-C-G c.1010G>C p.Arg337Pro Missense 10/11 - 8
17-7574017-CG-GC c.1009_1010delinsGC p.Arg337Ala Missense 10/11 - 4
17-7574017-CG-AC c.1009_1010delinsGT p.Arg337Val Missense 10/11 - 1
17-7574017-C-T c.1010G>A p.Arg337His Missense 10/11 - 212
17-7574018-G-C c.1009C>G p.Arg337Gly Missense 10/11 - 3
17-7574018-G-A c.1009C>T p.Arg337Cys Missense 10/11 - 68
17-7574018-G-T c.1009C>A p.Arg337Ser Missense 10/11 - 1
17-7574019-C-T c.1008G>A p.Glu336Glu Synonymous 10/11 - 1
17-7574021-C-A c.1006G>T p.Glu336* Nonsense 10/11 - 9
17-7574021-C-T c.1006G>A p.Glu336Lys Missense 10/11 - 3
17-7574021-C-G c.1006G>C p.Glu336Gln Missense 10/11 - 1
17-7574022-ACG-GAG c.1004_1005delinsTC p.Arg335Leu Missense 10/11 - 1
17-7574022-ACG-TGG c.1004_1005delinsCA p.Arg335Pro Missense 10/11 - 1
17-7574022-AC-AA c.1004delinsT p.Arg335Leu Missense 10/11 - 1
17-7574022-A-AA c.1005dup p.Glu336* Nonsense 10/11 - 1
17-7574023-C-T c.1004G>A p.Arg335His Missense 10/11 - 1
17-7574023-C-A c.1004G>T p.Arg335Leu Missense 10/11 - 1
17-7574026-C-A c.1001G>T p.Gly334Val Missense 10/11 - 14
17-7574026-C-G c.1001G>C p.Gly334Ala Missense 10/11 - 1
17-7574026-C-T c.1001G>A p.Gly334Glu Missense 10/11 - 1
17-7574027-C-G c.1000G>C p.Gly334Arg Missense 10/11 - 7
17-7574027-C-A c.1000G>T p.Gly334Trp Missense 10/11 - 3
17-7574028-A-G c.999T>C p.Arg333Arg Synonymous 10/11 - 1
17-7574028-ACG-TGA c.997_999delinsTCA p.Arg333Ser Nonsense 10/11 - 1
17-7574028-A-T c.999T>A p.Arg333Arg Synonymous 10/11 - 1
17-7574028-A-C c.999T>G p.Arg333Arg Synonymous 10/11 - 1
17-7574029-C-T c.998G>A p.Arg333His Missense 10/11 - 1
17-7574029-CG-GC c.997_998delinsGC p.Arg333Ala Missense 10/11 - 1
17-7574030-G-A c.997C>T p.Arg333Cys Missense 10/11 - 5
17-7574030-G-C c.997C>G p.Arg333Gly Missense 10/11 - 2
17-7574030-G-GTTTA c.996_997insTAAA p.Arg333* Nonsense 10/11 - 1
17-7574031-GA-AG c.995_996delinsCT p.Ile332Thr Missense 10/11 - 1
17-7574031-GAT-CAA c.994_996delinsTTG p.Ile332Leu Missense 10/11 - 1
17-7574031-GAT-GAG c.994delinsC p.Ile332Leu Missense 10/11 - 4
17-7574031-GA-GG c.995delinsC p.Ile332Thr Missense 10/11 - 1
17-7574031-G-GG c.997dup p.Arg333Profs*4 Frameshift 10/11 - 3
17-7574031-G-C c.996C>G p.Ile332Met Missense 10/11 - 2
17-7574031-GAT-TGG c.994_996delinsCCA p.Ile332Pro Missense 10/11 - 1
17-7574032-AT-CC c.994_995delinsGG p.Ile332Gly Missense 10/11 - 1
17-7574032-AT-TA c.994_995delinsTA p.Ile332Tyr Missense 10/11 - 1
17-7574032-AT-CA c.994_995delinsTG p.Ile332Cys Missense 10/11 - 1
17-7574032-AT-GC c.994_995delinsGC p.Ile332Ala Missense 10/11 - 3
17-7574032-AT-GG c.994_995delinsCC p.Ile332Pro Missense 10/11 - 1
17-7574032-GAT-G c.994_995del p.Ile332Profs*4 SpliceAcceptorDeletion 10/11 - 1
17-7574032-AT-TG c.994_995delinsCA p.Ile332His Missense 10/11 - 1
17-7574032-A-C c.995T>G p.Ile332Ser Missense 10/11 - 1
17-7574032-A-G c.995T>C p.Ile332Thr Missense 10/11 - 1
17-7574032-A-T c.995T>A p.Ile332Asn Missense 10/11 - 1
17-7574032-AT-GA c.994_995delinsTC p.Ile332Ser Missense 10/11 - 1
17-7574033-T-C c.994A>G p.Ile332Val Missense 10/11 - 3
17-7574033-T-G c.994A>C p.Ile332Leu Missense 10/11 - 1
17-7574033-T-A c.994A>T p.Ile332Phe Missense 10/11 - 2
17-7574034-C-G c.994-1G>C - IntronicSNV - 9/10 1
17-7574034-C-T c.994-1G>A - IntronicSNV - 9/10 4
17-7574035-T-C c.994-2A>G - IntronicSNV - 9/10 1
17-7574131-AA-A c.994-95del - IntronicDeletion - 9/10 1
17-7574721-C-T c.994-688G>A - IntronicSNV - 9/10 2
17-7574775-C-T c.994-742G>A - IntronicSNV - 9/10 4
17-7574779-C-T c.994-746G>A - IntronicSNV - 9/10 1
17-7574864-C-T c.994-831G>A - IntronicSNV - 9/10 2
17-7574936-C-T c.994-903G>A - IntronicSNV - 9/10 2
17-7575733-A-G c.993+1120T>C - IntronicSNV - 9/10 1
17-7576348-C-T c.993+505G>A - IntronicSNV - 9/10 2
17-7576422-G-A c.993+431C>T - IntronicSNV - 9/10 2
17-7576501-G-A c.993+352C>T - IntronicSNV - 9/10 1
17-7576525-CAATATTTTCAACTTAC-C c.993+326_993+341del - IntronicDeletion - 9/10 1
17-7576525-A-C c.993+328T>G - IntronicSNV - 9/10 1
17-7576533-C-T c.993+320G>A - IntronicSNV - 9/10 1
17-7576539-A-G c.993+314T>C - IntronicSNV - 9/10 1
17-7576540-C-T c.993+313G>A - IntronicSNV - 9/10 1
17-7576541-G-C c.993+312C>G - IntronicSNV - 9/10 1
17-7576541-G-A c.993+312C>T - IntronicSNV - 9/10 1
17-7576542-A-G c.993+311T>C - IntronicSNV - 9/10 1
17-7576542-A-C c.993+311T>G - IntronicSNV - 9/10 1
17-7576543-C-A c.993+310G>T - IntronicSNV - 9/10 1
17-7576543-C-T c.993+310G>A - IntronicSNV - 9/10 1
17-7576544-G-A c.993+309C>T - IntronicSNV - 9/10 1
17-7576546-G-A c.993+307C>T - IntronicSNV - 9/10 1
17-7576546-G-C c.993+307C>G - IntronicSNV - 9/10 1
17-7576554-G-A c.993+299C>T - 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 2
17-7576563-A-T c.993+290T>A - IntronicSNV - 9/10 2
17-7576566-A-G c.993+287T>C - 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 1
17-7576568-TCGTAA-T c.993+281_993+285del - IntronicDeletion - 9/10 1
17-7576569-G-A c.993+284C>T - IntronicSNV - 9/10 1
17-7576570-T-G c.993+283A>C - IntronicSNV - 9/10 1
17-7576572-A-C c.993+281T>G - IntronicSNV - 9/10 1
17-7576591-C-T c.993+262G>A - IntronicSNV - 9/10 1
17-7576601-C-T c.993+252G>A - IntronicSNV - 9/10 1
17-7576607-A-T c.993+246T>A - IntronicSNV - 9/10 1
17-7576609-C-A c.993+244G>T - IntronicSNV - 9/10 1
17-7576619-C-T c.993+234G>A - IntronicSNV - 9/10 1
17-7576625-T-C c.993+228A>G - IntronicSNV - 9/10 1
17-7576626-T-C c.993+227A>G - IntronicSNV - 9/10 1
17-7576626-T-G c.993+227A>C - IntronicSNV - 9/10 1
17-7576630-A-C c.993+223T>G - IntronicSNV - 9/10 2
17-7576630-A-T c.993+223T>A - IntronicSNV - 9/10 2
17-7576630-A-G c.993+223T>C - IntronicSNV - 9/10 1
17-7576633-T-C c.993+220A>G - IntronicSNV - 9/10 1
17-7576636-C-G c.993+217G>C - IntronicSNV - 9/10 1
17-7576637-T-G c.993+216A>C - IntronicSNV - 9/10 1
17-7576654-G-C c.993+199C>G - IntronicSNV - 9/10 1
17-7576655-G-A c.993+198C>T - IntronicSNV - 9/10 1
17-7576659-T-C c.993+194A>G - IntronicSNV - 9/10 1
17-7576825-C-T c.993+28G>A - IntronicSNV - 9/10 1
17-7576841-A-G c.993+12T>C - IntronicSNV - 9/10 6
17-7576851-A-T c.993+2T>A - IntronicSNV - 9/10 1
17-7576851-A-G c.993+2T>C - IntronicSNV - 9/10 1
17-7576852-C-G c.993+1G>C - IntronicSNV - 9/10 1
17-7576852-C-T c.993+1G>A - IntronicSNV - 9/10 2
17-7576852-C-A c.993+1G>T - IntronicSNV - 9/10 1
17-7576853-CTG-TTT c.991_993delinsAAA p.Gln331Lys Missense 9/11 - 1
17-7576853-CTG-TAT c.991_993delinsATA p.Gln331Ile Missense 9/11 - 1
17-7576853-C-A c.993G>T p.Gln331His Missense 9/11 - 4
17-7576853-C-G c.993G>C p.Gln331His Missense 9/11 - 4
17-7576853-C-T c.993G>A p.Gln331Gln Synonymous 9/11 - 3
17-7576853-CTG-GAC c.991_993delinsGTC p.Gln331Val Missense 9/11 - 1
17-7576853-CTG-ATC c.991_993delinsGAT p.Gln331Asp Missense 9/11 - 1
17-7576853-CTG-TGT c.991_993delinsACA p.Gln331Thr Missense 9/11 - 1
17-7576853-CTG-AAC c.991_993delinsGTT p.Gln331Val Missense 9/11 - 2
17-7576854-TG-GG c.992delinsC p.Gln331Pro Missense 9/11 - 1
17-7576854-TG-TC c.991delinsG p.Gln331Glu Missense 9/11 - 1
17-7576854-TG-AT c.991_992delinsAT p.Gln331Met Missense 9/11 - 1
17-7576854-TG-AC c.991_992delinsGT p.Gln331Val Missense 9/11 - 1
17-7576854-T-C c.992A>G p.Gln331Arg Missense 9/11 - 14
17-7576854-T-G c.992A>C p.Gln331Pro Missense 9/11 - 2
17-7576854-TG-GT c.991_992delinsAC p.Gln331Thr Missense 9/11 - 1
17-7576854-TG-GC c.991_992delinsGC p.Gln331Ala Missense 9/11 - 3
17-7576854-T-A c.992A>T p.Gln331Leu Missense 9/11 - 1
17-7576855-G-A c.991C>T p.Gln331* Nonsense 9/11 - 23
17-7576855-G-C c.991C>G p.Gln331Glu Missense 9/11 - 1
17-7576855-G-T c.991C>A p.Gln331Lys Missense 9/11 - 1
17-7576855-G-GG c.991dup p.Gln331Profs*6 SpliceDonorInsertion 9/11 - 1
17-7576856-AAG-TGG c.989_990delinsCA p.Leu330Pro Missense 9/11 - 1
17-7576856-AAG-GAG c.990delinsC p.Leu330Leu Missense 9/11 - 2
17-7576857-AG-GG c.989delinsC p.Leu330Pro Missense 9/11 - 1
17-7576857-AG-GA c.988_989delinsTC p.Leu330Ser Missense 9/11 - 1
17-7576857-AG-GC c.988_989delinsGC p.Leu330Ala Missense 9/11 - 4
17-7576857-AG-AC c.988delinsG p.Leu330Val Missense 9/11 - 1
17-7576857-AG-AA c.988delinsT p.Leu330Phe Missense 9/11 - 1
17-7576857-A-C c.989T>G p.Leu330Arg Missense 9/11 - 3
17-7576857-A-G c.989T>C p.Leu330Pro Missense 9/11 - 5
17-7576857-A-T c.989T>A p.Leu330His Missense 9/11 - 7
17-7576857-AG-TA c.988_989delinsTA p.Leu330Tyr Missense 9/11 - 1
17-7576858-G-A c.988C>T p.Leu330Phe Missense 9/11 - 1
17-7576858-G-C c.988C>G p.Leu330Val Missense 9/11 - 1
17-7576858-G-T c.988C>A p.Leu330Ile Missense 9/11 - 1
17-7576860-G-A c.986C>T p.Thr329Ile Missense 9/11 - 4
17-7576860-G-C c.986C>G p.Thr329Ser Missense 9/11 - 1
17-7576861-T-A c.985A>T p.Thr329Ser Missense 9/11 - 1
17-7576861-T-C c.985A>G p.Thr329Ala Missense 9/11 - 2
17-7576864-A-C c.982T>G p.Phe328Val Missense 9/11 - 1
17-7576865-A-T c.981T>A p.Tyr327* Nonsense 9/11 - 2
17-7576866-T-G c.980A>C p.Tyr327Ser Missense 9/11 - 1
17-7576866-TA-GC c.979_980delinsGC p.Tyr327Ala Missense 9/11 - 2
17-7576866-T-A c.980A>T p.Tyr327Phe Missense 9/11 - 1
17-7576867-A-C c.979T>G p.Tyr327Asp Missense 9/11 - 1
17-7576867-A-G c.979T>C p.Tyr327His Missense 9/11 - 1
17-7576869-T-G c.977A>C p.Glu326Ala Missense 9/11 - 1
17-7576869-T-C c.977A>G p.Glu326Gly Missense 9/11 - 2
17-7576869-T-A c.977A>T p.Glu326Val Missense 9/11 - 1
17-7576870-C-A c.976G>T p.Glu326* Nonsense 9/11 - 1
17-7576870-TCTCCATCCAGTGGTTTCTTCTTT-T c.956_978del p.Lys319Ilefs*10 Frameshift 9/11 - 1
17-7576872-C-A c.974G>T p.Gly325Val Missense 9/11 - 4
17-7576873-C-A c.973G>T p.Gly325* Nonsense 9/11 - 4
17-7576873-C-G c.973G>C p.Gly325Arg Missense 9/11 - 2
17-7576873-C-T c.973G>A p.Gly325Arg Missense 9/11 - 2
17-7576875-T-G c.971A>C p.Asp324Ala Missense 9/11 - 1
17-7576876-C-G c.970G>C p.Asp324His Missense 9/11 - 2
17-7576878-AG-GC c.967_968delinsGC p.Leu323Ala Missense 9/11 - 2
17-7576881-GG-AA c.964_965delinsTT p.Pro322Leu Missense 9/11 - 1
17-7576882-G-A c.964C>T p.Pro322Ser Missense 9/11 - 2
17-7576884-T-C c.962A>G p.Lys321Arg Missense 9/11 - 2
17-7576884-TT-GC c.961_962delinsGC p.Lys321Ala Missense 9/11 - 5
17-7576885-T-G c.961A>C p.Lys321Gln Missense 9/11 - 1
17-7576886-C-G c.960G>C p.Lys320Asn Missense 9/11 - 4
17-7576886-C-T c.960G>A p.Lys320Lys Synonymous 9/11 - 1
17-7576886-TCT-T c.960_961del p.Lys321Thrfs*15 Frameshift 9/11 - 1
17-7576887-T-G c.959A>C p.Lys320Thr Missense 9/11 - 1
17-7576887-T-C c.959A>G p.Lys320Arg Missense 9/11 - 17
17-7576887-TT-GC c.958_959delinsGC p.Lys320Ala Missense 9/11 - 4
17-7576888-T-G c.958A>C p.Lys320Gln Missense 9/11 - 14
17-7576888-T-A c.958A>T p.Lys320* Nonsense 9/11 - 1
17-7576889-C-CC c.957dup p.Lys320Glufs*17 Frameshift 9/11 - 1
17-7576890-T-G c.956A>C p.Lys319Thr Missense 9/11 - 1
17-7576890-T-C c.956A>G p.Lys319Arg Missense 9/11 - 1
17-7576890-TT-GC c.955_956delinsGC p.Lys319Ala Missense 9/11 - 7
17-7576891-TTTGGCTGGGGAGAG-T c.942_955del p.Ser315Glufs*17 Frameshift 9/11 - 1
17-7576891-T-C c.955A>G p.Lys319Glu Missense 9/11 - 1
17-7576895-C-G c.951G>C p.Gln317His Missense 9/11 - 1
17-7576895-C-A c.951G>T p.Gln317His Missense 9/11 - 1
17-7576896-T-C c.950A>G p.Gln317Arg Missense 9/11 - 3
17-7576897-G-A c.949C>T p.Gln317* Nonsense 9/11 - 14
17-7576899-G-A c.947C>T p.Pro316Leu Missense 9/11 - 1
17-7576900-GG-G c.949del p.Gln317Serfs*28 Frameshift 9/11 - 1
17-7576900-G-GG c.949dup p.Gln317Profs*20 Frameshift 9/11 - 2
17-7576901-A-G c.945T>C p.Ser315Ser Synonymous 9/11 - 3
17-7576901-A-C c.945T>G p.Ser315Ser Synonymous 9/11 - 3
17-7576901-A-T c.945T>A p.Ser315Ser Synonymous 9/11 - 3
17-7576902-G-A c.944C>T p.Ser315Phe Missense 9/11 - 2
17-7576903-A-G c.943T>C p.Ser315Pro Missense 9/11 - 1
17-7576903-A-C c.943T>G p.Ser315Ala Missense 9/11 - 23
17-7576905-G-A c.941C>T p.Ser314Phe Missense 9/11 - 1
17-7576906-A-C c.940T>G p.Ser314Ala Missense 9/11 - 1
17-7576906-A-G c.940T>C p.Ser314Pro Missense 9/11 - 1
17-7576908-C-G c.938G>C p.Ser313Thr Missense 9/11 - 1
17-7576908-CT-CC c.937delinsG p.Ser313Gly Missense 9/11 - 1
17-7576908-CT-GC c.937_938delinsGC p.Ser313Ala Missense 9/11 - 1
17-7576909-T-C c.937A>G p.Ser313Gly Missense 9/11 - 1
17-7576911-GT-TA c.934_935delinsTA p.Thr312Tyr Missense 9/11 - 1
17-7576911-G-C c.935C>G p.Thr312Ser Missense 9/11 - 5
17-7576911-G-A c.935C>T p.Thr312Ile Missense 9/11 - 4
17-7576912-T-C c.934A>G p.Thr312Ala Missense 9/11 - 3
17-7576913-G-A c.933C>T p.Asn311Asn Synonymous 9/11 - 1
17-7576913-GTT-CAA c.931_933delinsTTG p.Asn311Leu Missense 9/11 - 1
17-7576914-T-C c.932A>G p.Asn311Ser Missense 9/11 - 3
17-7576914-TT-GG c.931_932delinsCC p.Asn311Pro Missense 9/11 - 2
17-7576914-TT-GC c.931_932delinsGC p.Asn311Ala Missense 9/11 - 2
17-7576917-TT-TG c.928delinsC p.Asn310His Missense 9/11 - 1
17-7576918-T-TT c.929dup p.Asn310Lysfs*27 Frameshift 9/11 - 1
17-7576918-T-C c.928A>G p.Asn310Asp Missense 9/11 - 1
17-7576920-G-A c.926C>T p.Pro309Leu Missense 9/11 - 1
17-7576921-G-A c.925C>T p.Pro309Ser Missense 9/11 - 55
17-7576921-G-C c.925C>G p.Pro309Ala Missense 9/11 - 1
17-7576923-A-G c.923T>C p.Leu308Pro Missense 9/11 - 1
17-7576924-G-A c.922C>T p.Leu308Leu Synonymous 9/11 - 2
17-7576924-G-C c.922C>G p.Leu308Val Missense 9/11 - 1
17-7576925-TG-AC c.920_921delinsGT p.Ala307Gly Missense 9/11 - 1
17-7576926-G-A c.920C>T p.Ala307Val Missense 9/11 - 1
17-7576927-C-A c.920-1G>T - IntronicSNV - 8/10 1
17-7576927-C-G c.920-1G>C - IntronicSNV - 8/10 1
17-7576927-C-T c.920-1G>A - IntronicSNV - 8/10 3
17-7576928-T-C c.920-2A>G - IntronicSNV - 8/10 5
17-7576928-T-A c.920-2A>T - IntronicSNV - 8/10 1
17-7576928-CT-C c.920-2del - IntronicDeletion - 8/10 2
17-7577001-C-T c.919+18G>A - IntronicSNV - 8/10 1
17-7577018-C-A c.919+1G>T - IntronicSNV - 8/10 6
17-7577018-C-T c.919+1G>A - IntronicSNV - 8/10 6
17-7577019-C-T c.919G>A p.Ala307Thr Missense 8/11 - 1
17-7577019-C-A c.919G>T p.Ala307Ser Missense 8/11 - 1
17-7577020-TCG-TGT c.916_917delinsAC p.Arg306Thr Missense 8/11 - 3
17-7577020-TC-AT c.917_918delinsAT p.Arg306His Missense 8/11 - 2
17-7577021-CG-AC c.916_917delinsGT p.Arg306Val Missense 8/11 - 1
17-7577021-CG-GC c.916_917delinsGC p.Arg306Ala Missense 8/11 - 5
17-7577021-C-G c.917G>C p.Arg306Pro Missense 8/11 - 1
17-7577021-CG-AA c.916_917delinsTT p.Arg306Leu Missense 8/11 - 1
17-7577021-C-T c.917G>A p.Arg306Gln Missense 8/11 - 3
17-7577022-G-C c.916C>G p.Arg306Gly Missense 8/11 - 1
17-7577022-G-T c.916C>A p.Arg306Arg Synonymous 8/11 - 2
17-7577022-G-A c.916C>T p.Arg306* Nonsense 8/11 - 106
17-7577023-C-G c.915G>C p.Lys305Asn Missense 8/11 - 1
17-7577023-C-A c.915G>T p.Lys305Asn Missense 8/11 - 1
17-7577024-TT-GC c.913_914delinsGC p.Lys305Ala Missense 8/11 - 6
17-7577024-T-C c.914A>G p.Lys305Arg Missense 8/11 - 3
17-7577025-T-G c.913A>C p.Lys305Gln Missense 8/11 - 1
17-7577025-T-A c.913A>T p.Lys305* Nonsense 8/11 - 7
17-7577026-A-AT c.911_912insA p.Lys305* Nonsense 8/11 - 1
17-7577027-GT-TG c.910_911delinsCA p.Thr304His Missense 8/11 - 1
17-7577027-G-A c.911C>T p.Thr304Ile Missense 8/11 - 3
17-7577028-T-C c.910A>G p.Thr304Ala Missense 8/11 - 1
17-7577029-GCT-GAG c.907_908delinsCT p.Ser303Leu Missense 8/11 - 1
17-7577030-C-A c.908G>T p.Ser303Ile Missense 8/11 - 1
17-7577030-C-T c.908G>A p.Ser303Asn Missense 8/11 - 1
17-7577030-CT-GC c.907_908delinsGC p.Ser303Ala Missense 8/11 - 1
17-7577032-C-G c.906G>C p.Gly302Gly Synonymous 8/11 - 1
17-7577032-C-T c.906G>A p.Gly302Gly Synonymous 8/11 - 1
17-7577032-CCC-TGT c.904_906delinsACA p.Gly302Thr Missense 8/11 - 1
17-7577032-C-A c.906G>T p.Gly302Gly Synonymous 8/11 - 1
17-7577033-C-T c.905G>A p.Gly302Glu Missense 8/11 - 3
17-7577033-CC-AC c.905delinsT p.Gly302Val Missense 8/11 - 1
17-7577034-C-G c.904G>C p.Gly302Arg Missense 8/11 - 1
17-7577034-C-T c.904G>A p.Gly302Arg Missense 8/11 - 1
17-7577035-T-C c.903A>G p.Pro301Pro Synonymous 8/11 - 1
17-7577035-TGG-TGT c.901delinsA p.Pro301Thr Missense 8/11 - 1
17-7577036-G-T c.902C>A p.Pro301Gln Missense 8/11 - 1
17-7577036-G-C c.902C>G p.Pro301Arg Missense 8/11 - 2
17-7577036-G-A c.902C>T p.Pro301Leu Missense 8/11 - 7
17-7577037-G-A c.901C>T p.Pro301Ser Missense 8/11 - 3
17-7577038-G-A c.900C>T p.Pro300Pro Synonymous 8/11 - 2
17-7577038-G-C c.900C>G p.Pro300Pro Synonymous 8/11 - 2
17-7577038-G-T c.900C>A p.Pro300Pro Synonymous 8/11 - 2
17-7577039-G-A c.899C>T p.Pro300Leu Missense 8/11 - 2
17-7577040-G-A c.898C>T p.Pro300Ser Missense 8/11 - 3
17-7577040-G-C c.898C>G p.Pro300Ala Missense 8/11 - 1
17-7577044-C-G c.894G>C p.Glu298Asp Missense 8/11 - 7
17-7577044-C-A c.894G>T p.Glu298Asp Missense 8/11 - 7
17-7577046-C-T c.892G>A p.Glu298Lys Missense 8/11 - 3
17-7577046-C-G c.892G>C p.Glu298Gln Missense 8/11 - 2
17-7577046-C-A c.892G>T p.Glu298* Nonsense 8/11 - 29
17-7577047-G-A c.891C>T p.His297His Synonymous 8/11 - 1
17-7577048-TG-GG c.890delinsC p.His297Pro Missense 8/11 - 1
17-7577048-TG-GC c.889_890delinsGC p.His297Ala Missense 8/11 - 6
17-7577049-G-A c.889C>T p.His297Tyr Missense 8/11 - 5
17-7577049-G-T c.889C>A p.His297Asn Missense 8/11 - 1
17-7577050-G-A c.888C>T p.His296His Synonymous 8/11 - 1
17-7577051-T-C c.887A>G p.His296Arg Missense 8/11 - 1
17-7577053-A-G c.885T>C p.Pro295Pro Synonymous 8/11 - 2
17-7577054-G-A c.884C>T p.Pro295Leu Missense 8/11 - 2
17-7577054-G-T c.884C>A p.Pro295His Missense 8/11 - 2
17-7577055-G-A c.883C>T p.Pro295Ser Missense 8/11 - 1
17-7577056-C-T c.882G>A p.Glu294Glu Synonymous 8/11 - 1
17-7577056-C-G c.882G>C p.Glu294Asp Missense 8/11 - 2
17-7577058-C-T c.880G>A p.Glu294Lys Missense 8/11 - 3
17-7577058-C-A c.880G>T p.Glu294* Nonsense 8/11 - 14
17-7577059-CCCCTTTC-C c.875_881del p.Lys292Serfs*51 Frameshift 8/11 - 1
17-7577060-C-T c.878G>A p.Gly293Glu Missense 8/11 - 3
17-7577061-C-CC c.880dup p.Glu294Glyfs*12 Frameshift 8/11 - 2
17-7577061-C-T c.877G>A p.Gly293Arg Missense 8/11 - 4
17-7577061-C-A c.877G>T p.Gly293Trp Missense 8/11 - 3
17-7577061-CCT-C c.876_877del p.Glu294Alafs*11 Frameshift 8/11 - 1
17-7577062-TTT-TGT c.875delinsC p.Lys292Thr Missense 8/11 - 4
17-7577063-TT-GC c.874_875delinsGC p.Lys292Ala Missense 8/11 - 1
17-7577063-T-C c.875A>G p.Lys292Arg Missense 8/11 - 6
17-7577063-T-A c.875A>T p.Lys292Ile Missense 8/11 - 3
17-7577064-T-C c.874A>G p.Lys292Glu Missense 8/11 - 1
17-7577065-C-T c.873G>A p.Lys291Lys Synonymous 8/11 - 1
17-7577065-C-G c.873G>C p.Lys291Asn Missense 8/11 - 1
17-7577065-C-A c.873G>T p.Lys291Asn Missense 8/11 - 1
17-7577065-CTT-CAT c.872delinsT p.Lys291Met Missense 8/11 - 1
17-7577065-CTT-TGT c.872_873delinsCA p.Lys291Thr Missense 8/11 - 1
17-7577066-T-C c.872A>G p.Lys291Arg Missense 8/11 - 3
17-7577067-T-C c.871A>G p.Lys291Glu Missense 8/11 - 2
17-7577067-T-A c.871A>T p.Lys291* Nonsense 8/11 - 6
17-7577068-GCG-GAG c.869delinsT p.Arg290Leu Missense 8/11 - 2
17-7577069-C-T c.869G>A p.Arg290His Missense 8/11 - 18
17-7577069-C-A c.869G>T p.Arg290Leu Missense 8/11 - 2
17-7577069-C-G c.869G>C p.Arg290Pro Missense 8/11 - 2
17-7577070-G-A c.868C>T p.Arg290Cys Missense 8/11 - 11
17-7577072-AG-GC c.865_866delinsGC p.Leu289Ala Missense 8/11 - 4
17-7577073-G-A c.865C>T p.Leu289Phe Missense 8/11 - 2
17-7577074-A-C c.864T>G p.Asn288Lys Missense 8/11 - 2
17-7577074-A-T c.864T>A p.Asn288Lys Missense 8/11 - 2
17-7577075-T-A c.863A>T p.Asn288Ile Missense 8/11 - 1
17-7577076-T-A c.862A>T p.Asn288Tyr Missense 8/11 - 2
17-7577076-T-C c.862A>G p.Asn288Asp Missense 8/11 - 2
17-7577076-TTCTCTTCCTCTGTGCGCCGGTCTCTCC-T c.836_862del p.Gly279_Asn288delinsAsp MultiAAMissense 8/11 - 1
17-7577077-C-G c.861G>C p.Glu287Asp Missense 8/11 - 1
17-7577077-C-A c.861G>T p.Glu287Asp Missense 8/11 - 1
17-7577077-C-T c.861G>A p.Glu287Glu Synonymous 8/11 - 1
17-7577078-T-G c.860A>C p.Glu287Ala Missense 8/11 - 1
17-7577078-CTCTTCCTCTGTGCGCCGGTCTCTCCC-C c.836_861del p.Gly279Glufs*18 Frameshift 8/11 - 1
17-7577079-C-T c.859G>A p.Glu287Lys Missense 8/11 - 4
17-7577079-C-A c.859G>T p.Glu287* Nonsense 8/11 - 4
17-7577079-C-G c.859G>C p.Glu287Gln Missense 8/11 - 1
17-7577080-T-C c.858A>G p.Glu286Glu Synonymous 8/11 - 1
17-7577080-T-A c.858A>T p.Glu286Asp Missense 8/11 - 2
17-7577080-T-G c.858A>C p.Glu286Asp Missense 8/11 - 2
17-7577081-TTC-T c.856_857del p.Glu286Argfs*19 Frameshift 8/11 - 1
17-7577081-T-C c.857A>G p.Glu286Gly Missense 8/11 - 8
17-7577081-T-A c.857A>T p.Glu286Val Missense 8/11 - 4
17-7577081-T-G c.857A>C p.Glu286Ala Missense 8/11 - 3
17-7577082-C-T c.856G>A p.Glu286Lys Missense 8/11 - 42
17-7577082-C-G c.856G>C p.Glu286Gln Missense 8/11 - 2
17-7577082-C-A c.856G>T p.Glu286* Nonsense 8/11 - 2
17-7577083-C-G c.855G>C p.Glu285Asp Missense 8/11 - 1
17-7577083-C-A c.855G>T p.Glu285Asp Missense 8/11 - 1
17-7577084-TC-CT c.853_854delinsAG p.Glu285Arg Missense 8/11 - 2
17-7577084-T-G c.854A>C p.Glu285Ala Missense 8/11 - 3
17-7577084-T-A c.854A>T p.Glu285Val Missense 8/11 - 11
17-7577085-C-T c.853G>A p.Glu285Lys Missense 8/11 - 109
17-7577085-C-A c.853G>T p.Glu285* Nonsense 8/11 - 6
17-7577085-C-G c.853G>C p.Glu285Gln Missense 8/11 - 4
17-7577087-G-C c.851C>G p.Thr284Arg Missense 8/11 - 6
17-7577088-T-TCCT c.850_851insGGA p.Arg283dup InFrameInsertion 8/11 - 1
17-7577088-T-C c.850A>G p.Thr284Ala Missense 8/11 - 2
17-7577088-T-A c.850A>T p.Thr284Ser Missense 8/11 - 3
17-7577088-T-G c.850A>C p.Thr284Pro Missense 8/11 - 4
17-7577089-GC-AA c.848_849delinsTT p.Arg283Leu Missense 8/11 - 2
17-7577089-G-GG c.849dup p.Thr284Hisfs*22 Frameshift 8/11 - 1
17-7577090-CG-GC c.847_848delinsGC p.Arg283Ala Missense 8/11 - 1
17-7577090-C-A c.848G>T p.Arg283Leu Missense 8/11 - 1
17-7577090-C-T c.848G>A p.Arg283His Missense 8/11 - 19
17-7577090-C-G c.848G>C p.Arg283Pro Missense 8/11 - 13
17-7577091-G-T c.847C>A p.Arg283Ser Missense 8/11 - 1
17-7577091-G-C c.847C>G p.Arg283Gly Missense 8/11 - 1
17-7577091-G-A c.847C>T p.Arg283Cys Missense 8/11 - 34
17-7577092-CCG-ATC c.844_846delinsGAT p.Arg282Asp Missense 8/11 - 1
17-7577092-CC-AT c.845_846delinsAT p.Arg282His Missense 8/11 - 8
17-7577092-GCCG-G c.846_848del p.Arg283del InFrameDeletion 8/11 - 2
17-7577093-CG-AT c.844_845delinsAT p.Arg282Met Missense 8/11 - 1
17-7577093-C-A c.845G>T p.Arg282Leu Missense 8/11 - 4
17-7577093-CC-C c.846del p.Arg283Alafs*62 Frameshift 8/11 - 1
17-7577093-CG-GA c.844_845delinsTC p.Arg282Ser Missense 8/11 - 1
17-7577093-CG-GC c.844_845delinsGC p.Arg282Ala Missense 8/11 - 4
17-7577093-C-T c.845G>A p.Arg282Gln Missense 8/11 - 29
17-7577093-C-G c.845G>C p.Arg282Pro Missense 8/11 - 9
17-7577092-C-T c.846G>A p.Arg282Arg Synonymous 8/11 - 1
17-7577092-C-G c.846G>C p.Arg282Arg Synonymous 8/11 - 1
17-7577094-G-C c.844C>G p.Arg282Gly Missense 8/11 - 18
17-7577092-C-A c.846G>T p.Arg282Arg Synonymous 8/11 - 1
17-7577094-G-A c.844C>T p.Arg282Trp Missense 8/11 - 320
17-7577094-G-T c.844C>A p.Arg282Arg Synonymous 8/11 - 1
17-7577095-G-T c.843C>A p.Asp281Glu Missense 8/11 - 17
17-7577095-G-C c.843C>G p.Asp281Glu Missense 8/11 - 15
17-7577096-GTCTCTCCCAGGACA-G c.829_842del p.Cys277Profs*24 Frameshift 8/11 - 1
17-7577096-T-C c.842A>G p.Asp281Gly Missense 8/11 - 53
17-7577096-T-A c.842A>T p.Asp281Val Missense 8/11 - 7
17-7577096-T-G c.842A>C p.Asp281Ala Missense 8/11 - 2
17-7577097-C-T c.841G>A p.Asp281Asn Missense 8/11 - 20
17-7577097-C-G c.841G>C p.Asp281His Missense 8/11 - 17
17-7577097-C-A c.841G>T p.Asp281Tyr Missense 8/11 - 13
17-7577097-TCTCTCCCAGGACAGGCACAAACACGC-T c.816_841del p.Arg273Profs*24 Frameshift 8/11 - 1
17-7577098-TCT-TGG c.838_839delinsCC p.Arg280Pro Missense 8/11 - 2
17-7577098-TCT-GAC c.838_840delinsGTC p.Arg280Val Missense 8/11 - 1
17-7577098-T-C c.840A>G p.Arg280Arg Synonymous 8/11 - 1
17-7577100-T-G c.838A>C p.Arg280Arg Synonymous 8/11 - 1
17-7577098-T-A c.840A>T p.Arg280Ser Missense 8/11 - 22
17-7577098-CTCTC-C c.839_842del p.Arg280Thrfs*64 Frameshift 8/11 - 1
17-7577098-T-TTT c.840_841insAA p.Asp281Lysfs*65 Frameshift 8/11 - 1
17-7577098-CTCTCCCAGGACAGGC-C c.827_841del p.Ala276_Arg280del InFrameDeletion 8/11 - 1
17-7577098-TCT-CAT c.839_840delinsTG p.Arg280Met Missense 8/11 - 11
17-7577099-C-T c.839G>A p.Arg280Lys Missense 8/11 - 275
17-7577099-CT-GC c.838_839delinsGC p.Arg280Ala Missense 8/11 - 2
17-7577099-C-A c.839G>T p.Arg280Ile Missense 8/11 - 13
17-7577099-C-G c.839G>C p.Arg280Thr Missense 8/11 - 57
17-7577100-T-C c.838A>G p.Arg280Gly Missense 8/11 - 17
17-7577100-T-A c.838A>T p.Arg280* Nonsense 8/11 - 3
17-7577100-T-TA c.837_838insT p.Arg280* Nonsense 8/11 - 2
17-7577101-TCCC-T c.835_837del p.Gly279del InFrameDeletion 8/11 - 1
17-7577102-C-G c.836G>C p.Gly279Ala Missense 8/11 - 1
17-7577102-C-A c.836G>T p.Gly279Val Missense 8/11 - 1
17-7577102-C-T c.836G>A p.Gly279Glu Missense 8/11 - 25
17-7577103-C-T c.835G>A p.Gly279Arg Missense 8/11 - 6
17-7577103-C-A c.835G>T p.Gly279Trp Missense 8/11 - 1
17-7577104-A-AA c.834dup p.Gly279Trpfs*27 Frameshift 8/11 - 2
17-7577105-G-T c.833C>A p.Pro278His Missense 8/11 - 7
17-7577105-G-A c.833C>T p.Pro278Leu Missense 8/11 - 23
17-7577105-G-C c.833C>G p.Pro278Arg Missense 8/11 - 18
17-7577105-GG-TT c.832_833delinsAA p.Pro278Asn Missense 8/11 - 1
17-7577106-G-C c.832C>G p.Pro278Ala Missense 8/11 - 24
17-7577106-G-T c.832C>A p.Pro278Thr Missense 8/11 - 7
17-7577106-G-A c.832C>T p.Pro278Ser Missense 8/11 - 51
17-7577107-GACAGG-G c.831_835del p.Cys277Trpfs*27 Frameshift 8/11 - 1
17-7577107-A-C c.831T>G p.Cys277Trp Missense 8/11 - 3
17-7577107-A-T c.831T>A p.Cys277* Nonsense 8/11 - 3
17-7577108-CA-GC c.829_830delinsGC p.Cys277Ala Missense 8/11 - 5
17-7577108-C-A c.830G>T p.Cys277Phe Missense 8/11 - 46
17-7577108-C-T c.830G>A p.Cys277Tyr Missense 8/11 - 13
17-7577108-CA-GT c.829_830delinsAC p.Cys277Thr Missense 8/11 - 1
17-7577108-ACAGGC-A c.826_830del p.Ala276Serfs*28 Frameshift 8/11 - 1
17-7577108-C-G c.830G>C p.Cys277Ser Missense 8/11 - 17
17-7577109-A-C c.829T>G p.Cys277Gly Missense 8/11 - 3
17-7577109-A-G c.829T>C p.Cys277Arg Missense 8/11 - 2
17-7577109-A-T c.829T>A p.Cys277Ser Missense 8/11 - 17
17-7577110-GGC-CAA c.826_828delinsTTG p.Ala276Leu Missense 8/11 - 1
17-7577111-GC-CG c.826_827delinsCG p.Ala276Arg Missense 8/11 - 2
17-7577111-GC-CT c.826_827delinsAG p.Ala276Ser Missense 8/11 - 1
17-7577111-GC-TT c.826_827delinsAA p.Ala276Asn Missense 8/11 - 1
17-7577111-G-T c.827C>A p.Ala276Asp Missense 8/11 - 10
17-7577111-G-C c.827C>G p.Ala276Gly Missense 8/11 - 4
17-7577111-G-A c.827C>T p.Ala276Val Missense 8/11 - 2
17-7577111-GC-AA c.826_827delinsTT p.Ala276Phe Missense 8/11 - 1
17-7577111-GC-AT c.826_827delinsAT p.Ala276Ile Missense 8/11 - 1
17-7577112-C-G c.826G>C p.Ala276Pro Missense 8/11 - 7
17-7577112-C-A c.826G>T p.Ala276Ser Missense 8/11 - 2
17-7577112-C-T c.826G>A p.Ala276Thr Missense 8/11 - 2
17-7577113-A-C c.825T>G p.Cys275Trp Missense 8/11 - 7
17-7577113-A-T c.825T>A p.Cys275* Nonsense 8/11 - 2
17-7577114-C-T c.824G>A p.Cys275Tyr Missense 8/11 - 41
17-7577114-CA-GC c.823_824delinsGC p.Cys275Ala Missense 8/11 - 6
17-7577114-C-A c.824G>T p.Cys275Phe Missense 8/11 - 27
17-7577115-A-T c.823T>A p.Cys275Ser Missense 8/11 - 13
17-7577115-A-G c.823T>C p.Cys275Arg Missense 8/11 - 6
17-7577115-A-C c.823T>G p.Cys275Gly Missense 8/11 - 8
17-7577114-C-G c.824G>C p.Cys275Ser Missense 8/11 - 13
17-7577116-A-G c.822T>C p.Val274Val Synonymous 8/11 - 1
17-7577116-A-T c.822T>A p.Val274Val Synonymous 8/11 - 1
17-7577116-A-C c.822T>G p.Val274Val Synonymous 8/11 - 1
17-7577117-A-G c.821T>C p.Val274Ala Missense 8/11 - 7
17-7577117-A-C c.821T>G p.Val274Gly Missense 8/11 - 3
17-7577117-A-T c.821T>A p.Val274Asp Missense 8/11 - 4
17-7577117-ACACG-GGGTC c.817_821delinsGACCC p.Arg273_Val274delinsAspPro MultiAAMissense 8/11 - 1
17-7577117-A-AA c.823dup p.Cys275Leufs*31 Frameshift 8/11 - 2
17-7577117-AC-TG c.820_821delinsCA p.Val274His Missense 8/11 - 1
17-7577118-C-G c.820G>C p.Val274Leu Missense 8/11 - 6
17-7577118-C-A c.820G>T p.Val274Phe Missense 8/11 - 51
17-7577118-C-T c.820G>A p.Val274Ile Missense 8/11 - 1
17-7577119-A-C c.819T>G p.Arg273Arg Synonymous 8/11 - 1
17-7577119-A-AA c.819dup p.Val274Cysfs*32 Frameshift 8/11 - 4
17-7577119-A-G c.819T>C p.Arg273Arg Synonymous 8/11 - 1
17-7577119-A-T c.819T>A p.Arg273Arg Synonymous 8/11 - 1
17-7577119-A-AGGACCTGCA c.820_821insCAGGTCCTG p.Arg273_Val274insAlaGlyPro InFrameInsertion 8/11 - 1
17-7577120-CG-AA c.817_818delinsTT p.Arg273Phe Missense 8/11 - 1
17-7577120-ACGCACCTCA-A c.812_820del p.Glu271_Arg273del InFrameDeletion 8/11 - 1
17-7577120-ACGCACCTCAA-A c.810_819del p.Phe270Leufs*72 Frameshift 8/11 - 1
17-7577120-C-T c.818G>A p.Arg273His Missense 8/11 - 1266
17-7577120-C-A c.818G>T p.Arg273Leu Missense 8/11 - 113
17-7577120-C-G c.818G>C p.Arg273Pro Missense 8/11 - 24
17-7577120-CG-TA c.817_818delinsTA p.Arg273Tyr Missense 8/11 - 3
17-7577120-CG-GC c.817_818delinsGC p.Arg273Ala Missense 8/11 - 2
17-7577121-G-C c.817C>G p.Arg273Gly Missense 8/11 - 14
17-7577121-G-A c.817C>T p.Arg273Cys Missense 8/11 - 445
17-7577121-G-T c.817C>A p.Arg273Ser Missense 8/11 - 29
17-7577122-CAC-TGT c.814_816delinsACA p.Val272Thr Missense 8/11 - 1
17-7577122-C-A c.816G>T p.Val272Val Synonymous 8/11 - 2
17-7577122-C-G c.816G>C p.Val272Val Synonymous 8/11 - 2
17-7577122-C-T c.816G>A p.Val272Val Synonymous 8/11 - 2
17-7577123-A-T c.815T>A p.Val272Glu Missense 8/11 - 3
17-7577123-A-C c.815T>G p.Val272Gly Missense 8/11 - 2
17-7577123-A-G c.815T>C p.Val272Ala Missense 8/11 - 4
17-7577124-C-G c.814G>C p.Val272Leu Missense 8/11 - 23
17-7577124-C-A c.814G>T p.Val272Leu Missense 8/11 - 24
17-7577124-C-T c.814G>A p.Val272Met Missense 8/11 - 44
17-7577125-CTC-AAC c.812_813delinsTT p.Glu271Val Missense 8/11 - 1
17-7577126-T-C c.812A>G p.Glu271Gly Missense 8/11 - 2
17-7577126-T-A c.812A>T p.Glu271Val Missense 8/11 - 4
17-7577126-T-G c.812A>C p.Glu271Ala Missense 8/11 - 1
17-7577127-C-A c.811G>T p.Glu271* Nonsense 8/11 - 3
17-7577127-C-G c.811G>C p.Glu271Gln Missense 8/11 - 2
17-7577127-C-T c.811G>A p.Glu271Lys Missense 8/11 - 19
17-7577128-CAAAGCTGTTCCGTCC-C c.797_811del p.Gly266_Phe270del InFrameDeletion 8/11 - 1
17-7577128-CAAAGCT-C c.805_810del p.Ser269_Phe270del InFrameDeletion 8/11 - 1
17-7577129-A-C c.809T>G p.Phe270Cys Missense 8/11 - 5
17-7577129-AA-GC c.808_809delinsGC p.Phe270Ala Missense 8/11 - 4
17-7577129-A-G c.809T>C p.Phe270Ser Missense 8/11 - 7
17-7577129-A-T c.809T>A p.Phe270Tyr Missense 8/11 - 1
17-7577128-A-C c.810T>G p.Phe270Leu Missense 8/11 - 20
17-7577130-A-T c.808T>A p.Phe270Ile Missense 8/11 - 7
17-7577130-A-C c.808T>G p.Phe270Val Missense 8/11 - 2
17-7577128-A-T c.810T>A p.Phe270Leu Missense 8/11 - 20
17-7577131-G-C c.807C>G p.Ser269Arg Missense 8/11 - 1
17-7577133-T-G c.805A>C p.Ser269Arg Missense 8/11 - 1
17-7577131-G-T c.807C>A p.Ser269Arg Missense 8/11 - 1
17-7577131-GCT-GAG c.805_806delinsCT p.Ser269Leu Missense 8/11 - 2
17-7577132-GCTGTTCC-G c.800_806del p.Arg267Profs*76 Frameshift 8/11 - 1
17-7577132-CT-GC c.805_806delinsGC p.Ser269Ala Missense 8/11 - 3
17-7577132-CT-GA c.805_806delinsTC p.Ser269Ser Missense 8/11 - 2
17-7577132-C-T c.806G>A p.Ser269Asn Missense 8/11 - 2
17-7577132-C-A c.806G>T p.Ser269Ile Missense 8/11 - 3
17-7577134-GT-GG c.803delinsC p.Asn268Thr Missense 8/11 - 3
17-7577134-GTT-TAA c.802_804delinsTTA p.Asn268Leu Nonsense 8/11 - 1
17-7577134-G-A c.804C>T p.Asn268Asn Synonymous 8/11 - 1
17-7577135-T-A c.803A>T p.Asn268Ile Missense 8/11 - 1
17-7577135-T-C c.803A>G p.Asn268Ser Missense 8/11 - 2
17-7577136-T-C c.802A>G p.Asn268Asp Missense 8/11 - 25
17-7577136-TTC-T c.801_802del p.Asn268Glnfs*3 Frameshift 8/11 - 1
17-7577138-C-T c.800G>A p.Arg267Gln Missense 8/11 - 15
17-7577138-C-G c.800G>C p.Arg267Pro Missense 8/11 - 15
17-7577138-C-A c.800G>T p.Arg267Leu Missense 8/11 - 1
17-7577139-G-T c.799C>A p.Arg267Arg Synonymous 8/11 - 2
17-7577139-G-A c.799C>T p.Arg267Trp Missense 8/11 - 31
17-7577140-TCC-TGT c.796_797delinsAC p.Gly266Thr Missense 8/11 - 1
17-7577141-CC-CA c.796delinsT p.Gly266* Missense 8/11 - 3
17-7577141-C-T c.797G>A p.Gly266Glu Missense 8/11 - 52
17-7577141-C-A c.797G>T p.Gly266Val Missense 8/11 - 15
17-7577142-C-T c.796G>A p.Gly266Arg Missense 8/11 - 27
17-7577142-C-A c.796G>T p.Gly266* Nonsense 8/11 - 6
17-7577142-C-G c.796G>C p.Gly266Arg Missense 8/11 - 22
17-7577143-CC-C c.797del p.Gly266Aspfs*79 Frameshift 8/11 - 1
17-7577143-CAG-ATC c.793_795delinsGAT p.Leu265Asp Missense 8/11 - 1
17-7577144-A-C c.794T>G p.Leu265Arg Missense 8/11 - 1
17-7577144-A-G c.794T>C p.Leu265Pro Missense 8/11 - 22
17-7577144-AG-GC c.793_794delinsGC p.Leu265Ala Missense 8/11 - 1
17-7577146-GTAG-G c.792_794del p.Leu265del InFrameDeletion 8/11 - 1
17-7577146-GT-G c.792del p.Leu265Trpfs*80 Frameshift 8/11 - 1
17-7577147-AG-GC c.790_791delinsGC p.Leu264Ala Missense 8/11 - 1
17-7577147-A-C c.791T>G p.Leu264Arg Missense 8/11 - 2
17-7577148-AGA-A c.790_791del p.Leu264Thrfs*7 Frameshift 8/11 - 1
17-7577149-A-G c.789T>C p.Asn263Asn Synonymous 8/11 - 1
17-7577151-T-C c.787A>G p.Asn263Asp Missense 8/11 - 4
17-7577152-AC-AG c.785delinsC p.Gly262Ala Missense 8/11 - 1
17-7577153-C-T c.785G>A p.Gly262Asp Missense 8/11 - 2
17-7577153-C-A c.785G>T p.Gly262Val Missense 8/11 - 6
17-7577153-C-G c.785G>C p.Gly262Ala Missense 8/11 - 4
17-7577154-C-T c.784G>A p.Gly262Ser Missense 8/11 - 3
17-7577154-CCAC-C c.784_786del p.Gly262del InFrameDeletion 8/11 7/10 1
17-7577156-C-T c.783-1G>A - IntronicSNV - 7/10 3
17-7577156-C-A c.783-1G>T - IntronicSNV - 7/10 1
17-7577157-T-C c.783-2A>G - IntronicSNV - 7/10 1
17-7577407-A-C c.782+92T>G - IntronicSNV - 7/10 41
17-7577420-G-A c.782+79C>T - IntronicSNV - 7/10 1
17-7577427-G-A c.782+72C>T - IntronicSNV - 7/10 20
17-7577440-A-C c.782+59T>G - IntronicSNV - 7/10 1
17-7577482-G-A c.782+17C>T - IntronicSNV - 7/10 1
17-7577497-A-C c.782+2T>G - IntronicSNV - 7/10 1
17-7577498-C-G c.782+1G>C - IntronicSNV - 7/10 1
17-7577498-C-A c.782+1G>T - IntronicSNV - 7/10 6
17-7577498-C-T c.782+1G>A - IntronicSNV - 7/10 3
17-7577499-C-G c.782G>C p.Ser261Thr Missense 7/11 - 2
17-7577499-C-T c.782G>A p.Ser261Asn Missense 7/11 - 3
17-7577499-CT-GC c.781_782delinsGC p.Ser261Ala Missense 7/11 - 3
17-7577499-CT-GA c.781_782delinsTC p.Ser261Ser Missense 7/11 - 1
17-7577500-T-TAC c.780_781insGT p.Ser261Valfs*85 SpliceDonorInsertion 7/11 - 1
17-7577501-G-T c.780C>A p.Ser260Ser Synonymous 7/11 - 1
17-7577501-G-A c.780C>T p.Ser260Ser Synonymous 7/11 - 1
17-7577501-G-C c.780C>G p.Ser260Ser Synonymous 7/11 - 1
17-7577502-GGAG-G c.778_780del p.Ser261del InFrameDeletion 7/11 - 1
17-7577502-GG-G c.780del p.Ser261Valfs*84 Frameshift 7/11 - 1
17-7577502-G-A c.779C>T p.Ser260Phe Missense 7/11 - 3
17-7577503-A-C c.778T>G p.Ser260Ala Missense 7/11 - 5
17-7577503-A-T c.778T>A p.Ser260Thr Missense 7/11 - 2
17-7577503-GA-G c.778del p.Ser260Profs*85 Frameshift 7/11 - 1
17-7577504-G-A c.777C>T p.Asp259Asp Synonymous 7/11 - 1
17-7577504-G-C c.777C>G p.Asp259Glu Missense 7/11 - 1
17-7577504-G-T c.777C>A p.Asp259Glu Missense 7/11 - 1
17-7577505-T-C c.776A>G p.Asp259Gly Missense 7/11 - 3
17-7577505-T-A c.776A>T p.Asp259Val Missense 7/11 - 8
17-7577505-T-G c.776A>C p.Asp259Ala Missense 7/11 - 2
17-7577506-C-T c.775G>A p.Asp259Asn Missense 7/11 - 4
17-7577506-C-G c.775G>C p.Asp259His Missense 7/11 - 5
17-7577506-C-A c.775G>T p.Asp259Tyr Missense 7/11 - 22
17-7577507-T-A c.774A>T p.Glu258Asp Missense 7/11 - 6
17-7577507-T-G c.774A>C p.Glu258Asp Missense 7/11 - 6
17-7577508-T-G c.773A>C p.Glu258Ala Missense 7/11 - 1
17-7577508-T-A c.773A>T p.Glu258Val Missense 7/11 - 8
17-7577508-T-C c.773A>G p.Glu258Gly Missense 7/11 - 6
17-7577508-TC-AA c.772_773delinsTT p.Glu258Leu Missense 7/11 - 1
17-7577509-C-A c.772G>T p.Glu258* Nonsense 7/11 - 4
17-7577509-C-G c.772G>C p.Glu258Gln Missense 7/11 - 2
17-7577509-C-T c.772G>A p.Glu258Lys Missense 7/11 - 37
17-7577510-C-G c.771G>C p.Leu257Leu Synonymous 7/11 - 2
17-7577510-C-T c.771G>A p.Leu257Leu Synonymous 7/11 - 1
17-7577512-G-A c.769C>T p.Leu257Leu Synonymous 7/11 - 1
17-7577510-C-A c.771G>T p.Leu257Leu Synonymous 7/11 - 1
17-7577511-AG-GC c.769_770delinsGC p.Leu257Ala Missense 7/11 - 1
17-7577511-A-T c.770T>A p.Leu257Gln Missense 7/11 - 4
17-7577511-A-G c.770T>C p.Leu257Pro Missense 7/11 - 13
17-7577511-A-C c.770T>G p.Leu257Arg Missense 7/11 - 6
17-7577512-G-C c.769C>G p.Leu257Val Missense 7/11 - 2
17-7577513-GTGTGAT-G c.763_768del p.Ile255_Thr256del InFrameDeletion 7/11 - 1
17-7577514-G-C c.767C>G p.Thr256Arg Missense 7/11 - 1
17-7577514-G-A c.767C>T p.Thr256Ile Missense 7/11 - 3
17-7577514-G-T c.767C>A p.Thr256Lys Missense 7/11 - 1
17-7577515-T-A c.766A>T p.Thr256Ser Missense 7/11 - 1
17-7577515-T-C c.766A>G p.Thr256Ala Missense 7/11 - 4
17-7577516-G-A c.765C>T p.Ile255Ile Synonymous 7/11 - 1
17-7577516-G-T c.765C>A p.Ile255Ile Synonymous 7/11 - 1
17-7577517-A-C c.764T>G p.Ile255Ser Missense 7/11 - 3
17-7577517-A-G c.764T>C p.Ile255Thr Missense 7/11 - 3
17-7577517-A-T c.764T>A p.Ile255Asn Missense 7/11 - 6
17-7577518-T-A c.763A>T p.Ile255Phe Missense 7/11 - 11
17-7577518-T-C c.763A>G p.Ile255Val Missense 7/11 - 1
17-7577520-GATG-G c.764_766del p.Ile255del InFrameDeletion 7/11 - 4
17-7577520-A-T c.761T>A p.Ile254Asn Missense 7/11 - 3
17-7577520-A-C c.761T>G p.Ile254Ser Missense 7/11 - 8
17-7577520-A-G c.761T>C p.Ile254Thr Missense 7/11 - 7
17-7577521-T-C c.760A>G p.Ile254Val Missense 7/11 - 3
17-7577521-T-G c.760A>C p.Ile254Leu Missense 7/11 - 2
17-7577522-G-T c.759C>A p.Thr253Thr Synonymous 7/11 - 1
17-7577522-G-A c.759C>T p.Thr253Thr Synonymous 7/11 - 1
17-7577522-G-C c.759C>G p.Thr253Thr Synonymous 7/11 - 1
17-7577523-G-A c.758C>T p.Thr253Ile Missense 7/11 - 9
17-7577523-G-C c.758C>G p.Thr253Ser Missense 7/11 - 1
17-7577523-G-T c.758C>A p.Thr253Asn Missense 7/11 - 2
17-7577524-T-A c.757A>T p.Thr253Ser Missense 7/11 - 1
17-7577524-T-TT c.757dup p.Thr253Asnfs*11 Frameshift 7/11 - 1
17-7577524-GTGAGGATGG-G c.754_762del p.Leu252_Ile254del InFrameDeletion 7/11 - 2
17-7577524-T-G c.757A>C p.Thr253Pro Missense 7/11 - 1
17-7577524-T-C c.757A>G p.Thr253Ala Missense 7/11 - 6
17-7577525-TG-T c.756del p.Thr253Profs*92 Frameshift 7/11 - 1
17-7577525-GAG-AAG c.756delinsT p.Leu252Leu Missense 7/11 - 1
17-7577526-GAGGATGGG-G c.749_756del p.Pro250Hisfs*11 Frameshift 7/11 - 1
17-7577526-GAGGATGGGCC-G c.746_755del p.Arg249Thrfs*93 Frameshift 7/11 - 1
17-7577526-A-G c.755T>C p.Leu252Pro Missense 7/11 - 6
17-7577527-G-A c.754C>T p.Leu252Phe Missense 7/11 - 1
17-7577527-AGGA-A c.754_756del p.Leu252del InFrameDeletion 7/11 - 3
17-7577528-G-C c.753C>G p.Ile251Met Missense 7/11 - 1
17-7577528-GG-G c.754del p.Leu252Serfs*93 Frameshift 7/11 - 1
17-7577529-GATG-G c.751_753del p.Ile251del InFrameDeletion 7/11 - 1
17-7577529-A-T c.752T>A p.Ile251Asn Missense 7/11 - 3
17-7577529-A-C c.752T>G p.Ile251Ser Missense 7/11 - 6
17-7577529-A-G c.752T>C p.Ile251Thr Missense 7/11 - 3
17-7577530-T-C c.751A>G p.Ile251Val Missense 7/11 - 1
17-7577530-T-A c.751A>T p.Ile251Phe Missense 7/11 - 2
17-7577530-T-G c.751A>C p.Ile251Leu Missense 7/11 - 5
17-7577531-TGGG-T c.748_750del p.Pro250del InFrameDeletion 7/11 - 1
17-7577532-GG-TT c.748_749delinsAA p.Pro250Asn Missense 7/11 - 1
17-7577532-G-A c.749C>T p.Pro250Leu Missense 7/11 - 13
17-7577532-GGGCCTCCGGTTCATG-G c.738_752del p.Met246_Pro250del InFrameDeletion 7/11 - 1
17-7577533-G-C c.748C>G p.Pro250Ala Missense 7/11 - 1
17-7577533-G-T c.748C>A p.Pro250Thr Missense 7/11 - 3
17-7577533-GG-G c.750del p.Ile251Serfs*94 Frameshift 7/11 - 1
17-7577534-C-A c.747G>T p.Arg249Ser Missense 7/11 - 435
17-7577534-CC-TC c.747delinsA p.Arg249Arg Missense 7/11 - 1
17-7577534-C-G c.747G>C p.Arg249Ser Missense 7/11 - 424
17-7577534-CCT-GAC c.745_747delinsGTC p.Arg249Val Missense 7/11 - 1
17-7577535-C-T c.746G>A p.Arg249Lys Missense 7/11 - 7
17-7577535-C-A c.746G>T p.Arg249Met Missense 7/11 - 18
17-7577535-C-G c.746G>C p.Arg249Thr Missense 7/11 - 5
17-7577535-CT-GC c.745_746delinsGC p.Arg249Ala Missense 7/11 - 2
17-7577536-CTCC-C c.745_747del p.Arg249del InFrameDeletion 7/11 - 2
17-7577536-T-TA c.744_745insT p.Arg249* Nonsense 7/11 - 1
17-7577536-T-A c.745A>T p.Arg249Trp Missense 7/11 - 15
17-7577536-T-C c.745A>G p.Arg249Gly Missense 7/11 - 8
17-7577537-CC-AT c.743_744delinsAT p.Arg248His Missense 7/11 - 16
17-7577537-CCG-TAT c.742_744delinsATA p.Arg248Ile Missense 7/11 - 2
17-7577537-CCG-AGC c.742_744delinsGCT p.Arg248Ala Missense 7/11 - 1
17-7577537-CCG-TGT c.742_744delinsACA p.Arg248Thr Missense 7/11 - 3
17-7577538-CG-TA c.742_743delinsTA p.Arg248* Nonsense 7/11 - 1
17-7577538-C-T c.743G>A p.Arg248Gln Missense 7/11 - 650
17-7577538-C-A c.743G>T p.Arg248Leu Missense 7/11 - 64
17-7577538-C-G c.743G>C p.Arg248Pro Missense 7/11 - 19
17-7577538-CG-GT c.742_743delinsAC p.Arg248Thr Missense 7/11 - 1
17-7577538-CG-AC c.742_743delinsGT p.Arg248Val Missense 7/11 - 2
17-7577538-CG-GA c.742_743delinsTC p.Arg248Ser Missense 7/11 - 8
17-7577538-CG-GC c.742_743delinsGC p.Arg248Ala Missense 7/11 - 6
17-7577537-C-T c.744G>A p.Arg248Arg Synonymous 7/11 - 5
17-7577537-C-G c.744G>C p.Arg248Arg Synonymous 7/11 - 5
17-7577537-C-A c.744G>T p.Arg248Arg Synonymous 7/11 - 5
17-7577539-G-T c.742C>A p.Arg248Arg Synonymous 7/11 - 5
17-7577539-G-A c.742C>T p.Arg248Trp Missense 7/11 - 639
17-7577539-G-C c.742C>G p.Arg248Gly Missense 7/11 - 35
17-7577540-G-A c.741C>T p.Asn247Asn Synonymous 7/11 - 1
17-7577540-G-C c.741C>G p.Asn247Lys Missense 7/11 - 2
17-7577540-G-T c.741C>A p.Asn247Lys Missense 7/11 - 2
17-7577541-T-A c.740A>T p.Asn247Ile Missense 7/11 - 6
17-7577541-T-C c.740A>G p.Asn247Ser Missense 7/11 - 2
17-7577542-T-A c.739A>T p.Asn247Tyr Missense 7/11 - 2
17-7577542-T-C c.739A>G p.Asn247Asp Missense 7/11 - 2
17-7577543-C-G c.738G>C p.Met246Ile Missense 7/11 - 29
17-7577543-C-A c.738G>T p.Met246Ile Missense 7/11 - 27
17-7577543-C-T c.738G>A p.Met246Ile Missense 7/11 - 28
17-7577544-A-G c.737T>C p.Met246Thr Missense 7/11 - 6
17-7577544-AT-GC c.736_737delinsGC p.Met246Ala Missense 7/11 - 2
17-7577544-A-C c.737T>G p.Met246Arg Missense 7/11 - 8
17-7577544-A-T c.737T>A p.Met246Lys Missense 7/11 - 6
17-7577545-ATGCCGCCCATGCAG-A c.723_736del p.Cys242Glufs*17 Frameshift 7/11 - 1
17-7577545-T-G c.736A>C p.Met246Leu Missense 7/11 - 8
17-7577545-T-C c.736A>G p.Met246Val Missense 7/11 - 28
17-7577545-T-A c.736A>T p.Met246Leu Missense 7/11 - 8
17-7577545-ATGCCGCCCATGCAGGAACTGTTA-A c.715_737del p.Asn239Glufs*17 Frameshift 7/11 - 1
17-7577546-G-C c.735C>G p.Gly245Gly Synonymous 7/11 - 2
17-7577546-G-A c.735C>T p.Gly245Gly Synonymous 7/11 - 2
17-7577546-G-T c.735C>A p.Gly245Gly Synonymous 7/11 - 2
17-7577547-CC-AA c.733_734delinsTT p.Gly245Phe Missense 7/11 - 4
17-7577547-CC-TT c.733_734delinsAA p.Gly245Asn Missense 7/11 - 1
17-7577547-C-T c.734G>A p.Gly245Asp Missense 7/11 - 90
17-7577547-C-A c.734G>T p.Gly245Val Missense 7/11 - 40
17-7577547-C-G c.734G>C p.Gly245Ala Missense 7/11 - 17
17-7577548-C-CACCCAT c.732_733insATGGGT p.Met243_Gly244dup InFrameInsertion 7/11 - 1
17-7577548-C-G c.733G>C p.Gly245Arg Missense 7/11 - 13
17-7577548-C-A c.733G>T p.Gly245Cys Missense 7/11 - 77
17-7577548-C-T c.733G>A p.Gly245Ser Missense 7/11 - 342
17-7577549-CGCC-C c.733_735del p.Gly245del InFrameDeletion 7/11 - 1
17-7577549-G-A c.732C>T p.Gly244Gly Synonymous 7/11 - 2
17-7577549-G-T c.732C>A p.Gly244Gly Synonymous 7/11 - 2
17-7577549-G-C c.732C>G p.Gly244Gly Synonymous 7/11 - 2
17-7577550-C-A c.731G>T p.Gly244Val Missense 7/11 - 6
17-7577550-C-G c.731G>C p.Gly244Ala Missense 7/11 - 8
17-7577550-C-T c.731G>A p.Gly244Asp Missense 7/11 - 25
17-7577550-CC-AT c.730_731delinsAT p.Gly244Ile Missense 7/11 - 1
17-7577551-C-A c.730G>T p.Gly244Cys Missense 7/11 - 18
17-7577551-C-G c.730G>C p.Gly244Arg Missense 7/11 - 4
17-7577551-C-T c.730G>A p.Gly244Ser Missense 7/11 - 17
17-7577551-CCCATGC-C c.727_732del p.Met243_Gly244del InFrameDeletion 7/11 - 1
17-7577552-C-G c.729G>C p.Met243Ile Missense 7/11 - 1
17-7577552-C-A c.729G>T p.Met243Ile Missense 7/11 - 1
17-7577552-C-T c.729G>A p.Met243Ile Missense 7/11 - 1
17-7577553-A-G c.728T>C p.Met243Thr Missense 7/11 - 3
17-7577554-T-C c.727A>G p.Met243Val Missense 7/11 - 2
17-7577554-T-G c.727A>C p.Met243Leu Missense 7/11 - 1
17-7577554-T-A c.727A>T p.Met243Leu Missense 7/11 - 1
17-7577555-G-C c.726C>G p.Cys242Trp Missense 7/11 - 5
17-7577555-G-T c.726C>A p.Cys242* Nonsense 7/11 - 2
17-7577555-G-A c.726C>T p.Cys242Cys Synonymous 7/11 - 1
17-7577556-C-A c.725G>T p.Cys242Phe Missense 7/11 - 42
17-7577556-C-T c.725G>A p.Cys242Tyr Missense 7/11 - 30
17-7577556-CA-AC c.724_725delinsGT p.Cys242Val Missense 7/11 - 4
17-7577556-C-G c.725G>C p.Cys242Ser Missense 7/11 - 39
17-7577557-A-G c.724T>C p.Cys242Arg Missense 7/11 - 9
17-7577557-A-C c.724T>G p.Cys242Gly Missense 7/11 - 3
17-7577557-A-T c.724T>A p.Cys242Ser Missense 7/11 - 38
17-7577559-G-GT c.721_722insA p.Ser241Tyrfs*23 Frameshift 7/11 - 1
17-7577559-G-C c.722C>G p.Ser241Cys Missense 7/11 - 9
17-7577559-G-A c.722C>T p.Ser241Phe Missense 7/11 - 139
17-7577559-G-T c.722C>A p.Ser241Tyr Missense 7/11 - 20
17-7577560-A-G c.721T>C p.Ser241Pro Missense 7/11 - 4
17-7577560-A-T c.721T>A p.Ser241Thr Missense 7/11 - 5
17-7577560-A-C c.721T>G p.Ser241Ala Missense 7/11 - 3
17-7577561-A-C c.720T>G p.Ser240Arg Missense 7/11 - 12
17-7577561-A-T c.720T>A p.Ser240Arg Missense 7/11 - 12
17-7577563-T-G c.718A>C p.Ser240Arg Missense 7/11 - 12
17-7577561-ACT-GAG c.718_720delinsCTC p.Ser240Leu Missense 7/11 - 1
17-7577562-C-T c.719G>A p.Ser240Asn Missense 7/11 - 7
17-7577562-C-A c.719G>T p.Ser240Ile Missense 7/11 - 1
17-7577562-CT-GA c.718_719delinsTC p.Ser240Ser Missense 7/11 - 1
17-7577562-CT-GC c.718_719delinsGC p.Ser240Ala Missense 7/11 - 3
17-7577563-CTGTTAC-C c.715_720del p.Asn239_Ser240del InFrameDeletion 7/11 - 1
17-7577563-T-C c.718A>G p.Ser240Gly Missense 7/11 - 7
17-7577563-T-A c.718A>T p.Ser240Cys Missense 7/11 - 1
17-7577564-G-C c.717C>G p.Asn239Lys Missense 7/11 - 3
17-7577564-G-A c.717C>T p.Asn239Asn Synonymous 7/11 - 1
17-7577564-G-T c.717C>A p.Asn239Lys Missense 7/11 - 3
17-7577564-GTT-TAA c.715_717delinsTTA p.Asn239Leu Nonsense 7/11 - 3
17-7577565-T-C c.716A>G p.Asn239Ser Missense 7/11 - 26
17-7577565-T-G c.716A>C p.Asn239Thr Missense 7/11 - 5
17-7577566-T-C c.715A>G p.Asn239Asp Missense 7/11 - 24
17-7577566-T-A c.715A>T p.Asn239Tyr Missense 7/11 - 50
17-7577567-A-AA c.714dup p.Asn239* Nonsense 7/11 - 3
17-7577567-A-C c.714T>G p.Cys238Trp Missense 7/11 - 2
17-7577567-A-G c.714T>C p.Cys238Cys Synonymous 7/11 - 1
17-7577567-TACA-T c.712_714del p.Cys238del InFrameDeletion 7/11 - 1
17-7577567-A-T c.714T>A p.Cys238* Nonsense 7/11 - 1
17-7577568-C-A c.713G>T p.Cys238Phe Missense 7/11 - 36
17-7577568-CA-AC c.712_713delinsGT p.Cys238Val Missense 7/11 - 1
17-7577568-C-T c.713G>A p.Cys238Tyr Missense 7/11 - 37
17-7577569-A-T c.712T>A p.Cys238Ser Missense 7/11 - 19
17-7577568-C-G c.713G>C p.Cys238Ser Missense 7/11 - 20
17-7577569-A-G c.712T>C p.Cys238Arg Missense 7/11 - 5
17-7577569-A-C c.712T>G p.Cys238Gly Missense 7/11 - 2
17-7577570-C-T c.711G>A p.Met237Ile Missense 7/11 - 89
17-7577570-C-G c.711G>C p.Met237Ile Missense 7/11 - 83
17-7577570-C-A c.711G>T p.Met237Ile Missense 7/11 - 88
17-7577571-A-T c.710T>A p.Met237Lys Missense 7/11 - 5
17-7577572-T-C c.709A>G p.Met237Val Missense 7/11 - 6
17-7577572-T-G c.709A>C p.Met237Leu Missense 7/11 - 1
17-7577573-G-A c.708C>T p.Tyr236Tyr Synonymous 7/11 - 1
17-7577573-G-T c.708C>A p.Tyr236* Nonsense 7/11 - 6
17-7577574-T-C c.707A>G p.Tyr236Cys Missense 7/11 - 31
17-7577574-T-G c.707A>C p.Tyr236Ser Missense 7/11 - 4
17-7577574-T-A c.707A>T p.Tyr236Phe Missense 7/11 - 12
17-7577574-TA-AC c.706_707delinsGT p.Tyr236Val Missense 7/11 - 1
17-7577575-A-T c.706T>A p.Tyr236Asn Missense 7/11 - 4
17-7577575-A-C c.706T>G p.Tyr236Asp Missense 7/11 - 8
17-7577575-A-G c.706T>C p.Tyr236His Missense 7/11 - 2
17-7577575-TAGT-T c.706_708del p.Tyr236del InFrameDeletion 7/11 - 1
17-7577576-G-C c.705C>G p.Asn235Lys Missense 7/11 - 12
17-7577576-G-T c.705C>A p.Asn235Lys Missense 7/11 - 12
17-7577577-T-A c.704A>T p.Asn235Ile Missense 7/11 - 1
17-7577577-T-C c.704A>G p.Asn235Ser Missense 7/11 - 15
17-7577578-TTGTAGT-T c.704_709del p.Asn235_Tyr236del InFrameDeletion 7/11 - 1
17-7577578-T-C c.703A>G p.Asn235Asp Missense 7/11 - 6
17-7577579-G-C c.702C>G p.Tyr234* Nonsense 7/11 - 8
17-7577580-T-G c.701A>C p.Tyr234Ser Missense 7/11 - 1
17-7577580-T-A c.701A>T p.Tyr234Phe Missense 7/11 - 4
17-7577580-T-C c.701A>G p.Tyr234Cys Missense 7/11 - 56
17-7577580-TA-CT c.700_701delinsAG p.Tyr234Ser Missense 7/11 - 1
17-7577581-A-G c.700T>C p.Tyr234His Missense 7/11 - 21
17-7577581-A-T c.700T>A p.Tyr234Asn Missense 7/11 - 5
17-7577581-TAGT-T c.700_702del p.Tyr234del InFrameDeletion 7/11 - 1
17-7577581-A-C c.700T>G p.Tyr234Asp Missense 7/11 - 4
17-7577582-G-A c.699C>T p.His233His Synonymous 7/11 - 1
17-7577583-T-G c.698A>C p.His233Pro Missense 7/11 - 1
17-7577583-GTGG-G c.697_699del p.His233del InFrameDeletion 7/11 - 1
17-7577584-G-A c.697C>T p.His233Tyr Missense 7/11 - 4
17-7577584-G-C c.697C>G p.His233Asp Missense 7/11 - 2
17-7577584-G-T c.697C>A p.His233Asn Missense 7/11 - 2
17-7577585-G-C c.696C>G p.Ile232Met Missense 7/11 - 1
17-7577586-A-G c.695T>C p.Ile232Thr Missense 7/11 - 8
17-7577586-AT-GC c.694_695delinsGC p.Ile232Ala Missense 7/11 - 1
17-7577586-A-C c.695T>G p.Ile232Ser Missense 7/11 - 1
17-7577586-A-T c.695T>A p.Ile232Asn Missense 7/11 - 3
17-7577587-T-A c.694A>T p.Ile232Phe Missense 7/11 - 5
17-7577589-G-A c.692C>T p.Thr231Ile Missense 7/11 - 5
17-7577589-G-T c.692C>A p.Thr231Asn Missense 7/11 - 1
17-7577590-T-G c.691A>C p.Thr231Pro Missense 7/11 - 1
17-7577590-T-C c.691A>G p.Thr231Ala Missense 7/11 - 2
17-7577593-T-TG c.687_688insC p.Thr230Hisfs*10 Frameshift 7/11 - 1
17-7577593-T-G c.688A>C p.Thr230Pro Missense 7/11 - 1
17-7577593-T-C c.688A>G p.Thr230Ala Missense 7/11 - 2
17-7577594-A-T c.687T>A p.Cys229* Nonsense 7/11 - 1
17-7577594-A-G c.687T>C p.Cys229Cys Synonymous 7/11 - 1
17-7577595-CA-GC c.685_686delinsGC p.Cys229Ala Missense 7/11 - 3
17-7577595-C-T c.686G>A p.Cys229Tyr Missense 7/11 - 6
17-7577595-CA-AC c.685_686delinsGT p.Cys229Val Missense 7/11 - 1
17-7577595-ACA-A c.686_687del p.Cys229Tyrfs*10 Frameshift 7/11 - 3
17-7577595-C-A c.686G>T p.Cys229Phe Missense 7/11 - 1
17-7577595-C-G c.686G>C p.Cys229Ser Missense 7/11 - 2
17-7577596-A-C c.685T>G p.Cys229Gly Missense 7/11 - 1
17-7577596-A-G c.685T>C p.Cys229Arg Missense 7/11 - 3
17-7577596-A-T c.685T>A p.Cys229Ser Missense 7/11 - 2
17-7577597-G-GGTCAAACCCCG c.684_685insGGGGTTTGACC p.Cys229Glyfs*3 Frameshift 7/11 - 1
17-7577597-G-T c.684C>A p.Asp228Glu Missense 7/11 - 1
17-7577597-G-C c.684C>G p.Asp228Glu Missense 7/11 - 1
17-7577598-T-C c.683A>G p.Asp228Gly Missense 7/11 - 1
17-7577598-T-TTT c.683_684insAA p.Asp228Glufs*20 Frameshift 7/11 - 1
17-7577599-C-T c.682G>A p.Asp228Asn Missense 7/11 - 2
17-7577599-C-G c.682G>C p.Asp228His Missense 7/11 - 3
17-7577600-AGA-AAG c.679_680delinsCT p.Ser227Leu Missense 7/11 - 2
17-7577601-G-C c.680C>G p.Ser227Cys Missense 7/11 - 1
17-7577601-GA-CG c.679_680delinsCG p.Ser227Arg Missense 7/11 - 3
17-7577602-A-T c.679T>A p.Ser227Thr Missense 7/11 - 1
17-7577602-A-C c.679T>G p.Ser227Ala Missense 7/11 - 1
17-7577602-A-G c.679T>C p.Ser227Pro Missense 7/11 - 2
17-7577603-GC-AG c.677_678delinsCT p.Gly226Ala Missense 7/11 - 1
17-7577604-C-G c.677G>C p.Gly226Ala Missense 7/11 - 4
17-7577604-C-A c.677G>T p.Gly226Val Missense 7/11 - 1
17-7577604-C-T c.677G>A p.Gly226Asp Missense 7/11 - 6
17-7577604-GCCA-G c.675_677del p.Gly226del InFrameDeletion 7/11 - 1
17-7577605-C-G c.676G>C p.Gly226Arg Missense 7/11 - 2
17-7577605-C-A c.676G>T p.Gly226Cys Missense 7/11 - 1
17-7577605-C-T c.676G>A p.Gly226Ser Missense 7/11 - 4
17-7577605-CC-C c.677del p.Gly226Alafs*21 Frameshift 7/11 - 2
17-7577608-C-T c.673G>A p.Val225Ile Missense 7/11 - 2
17-7577609-C-A c.673-1G>T - IntronicSNV - 6/10 3
17-7577609-C-G c.673-1G>C - IntronicSNV - 6/10 2
17-7577609-C-T c.673-1G>A - IntronicSNV - 6/10 3
17-7577610-T-G c.673-2A>C - IntronicSNV - 6/10 1
17-7577610-T-C c.673-2A>G - IntronicSNV - 6/10 7
17-7577610-T-A c.673-2A>T - IntronicSNV - 6/10 3
17-7577613-GGAGATAACACAGG-G c.673-16_673-4del - IntronicDeletion - 6/10 1
17-7577644-C-T c.673-36G>A - IntronicSNV - 6/10 7
17-7577644-C-G c.673-36G>C - IntronicSNV - 6/10 10
17-7578115-T-G c.672+62A>C - IntronicSNV - 6/10 36
17-7578115-T-A c.672+62A>T - IntronicSNV - 6/10 36
17-7578115-T-C c.672+62A>G - IntronicSNV - 6/10 45
17-7578129-C-A c.672+48G>T - IntronicSNV - 6/10 1
17-7578129-C-T c.672+48G>A - IntronicSNV - 6/10 1
17-7578146-T-C c.672+31A>G - IntronicSNV - 6/10 4
17-7578159-C-G c.672+18G>C - IntronicSNV - 6/10 1
17-7578167-GCAAACCAGACCTCA-G c.669_672+10del - SpliceDonorDeletion 6/11 6/10 1
17-7578171-C-T c.672+6G>A - IntronicSNV - 6/10 1
17-7578174-AGACCTCAGGCGGCTCATAGGGCACCACCA-A c.651_672+7del - SpliceDonorDeletion 6/11 6/10 1
17-7578175-A-C c.672+2T>G - IntronicSNV - 6/10 1
17-7578176-C-T c.672+1G>A - IntronicSNV - 6/10 5
17-7578176-C-A c.672+1G>T - IntronicSNV - 6/10 3
17-7578177-C-T c.672G>A p.Glu224Glu Synonymous 6/11 - 5
17-7578177-C-A c.672G>T p.Glu224Asp Missense 6/11 - 12
17-7578179-C-T c.670G>A p.Glu224Lys Missense 6/11 - 5
17-7578181-G-A c.668C>T p.Pro223Leu Missense 6/11 - 48
17-7578181-G-T c.668C>A p.Pro223His Missense 6/11 - 1
17-7578181-G-C c.668C>G p.Pro223Arg Missense 6/11 - 3
17-7578182-G-A c.667C>T p.Pro223Ser Missense 6/11 - 2
17-7578182-G-C c.667C>G p.Pro223Ala Missense 6/11 - 1
17-7578183-C-T c.666G>A p.Pro222Pro Synonymous 6/11 - 5
17-7578183-C-A c.666G>T p.Pro222Pro Synonymous 6/11 - 5
17-7578184-G-A c.665C>T p.Pro222Leu Missense 6/11 - 11
17-7578184-CGGC-C c.666_668del p.Pro223del InFrameDeletion 6/11 - 1
17-7578185-G-A c.664C>T p.Pro222Ser Missense 6/11 - 1
17-7578186-GCTCA-G c.660_663del p.Glu221Argfs*25 Frameshift 6/11 - 1
17-7578186-C-T c.663G>A p.Glu221Glu Synonymous 6/11 - 1
17-7578186-GCTCATA-G c.658_663del p.Tyr220_Glu221del InFrameDeletion 6/11 - 1
17-7578186-C-G c.663G>C p.Glu221Asp Missense 6/11 - 1
17-7578186-C-A c.663G>T p.Glu221Asp Missense 6/11 - 1
17-7578187-T-A c.662A>T p.Glu221Val Missense 6/11 - 3
17-7578187-T-C c.662A>G p.Glu221Gly Missense 6/11 - 2
17-7578187-T-G c.662A>C p.Glu221Ala Missense 6/11 - 1
17-7578188-C-T c.661G>A p.Glu221Lys Missense 6/11 - 5
17-7578188-C-A c.661G>T p.Glu221* Nonsense 6/11 - 4
17-7578188-C-G c.661G>C p.Glu221Gln Missense 6/11 - 1
17-7578189-CATA-C c.658_660del p.Tyr220del InFrameDeletion 6/11 - 1
17-7578189-A-T c.660T>A p.Tyr220* Nonsense 6/11 - 5
17-7578189-A-C c.660T>G p.Tyr220* Nonsense 6/11 - 5
17-7578190-TA-CC c.658_659delinsGG p.Tyr220Gly Missense 6/11 - 1
17-7578190-T-A c.659A>T p.Tyr220Phe Missense 6/11 - 2
17-7578190-T-C c.659A>G p.Tyr220Cys Missense 6/11 - 390
17-7578190-T-G c.659A>C p.Tyr220Ser Missense 6/11 - 11
17-7578190-TA-GC c.658_659delinsGC p.Tyr220Ala Missense 6/11 - 1
17-7578191-A-G c.658T>C p.Tyr220His Missense 6/11 - 9
17-7578191-A-T c.658T>A p.Tyr220Asn Missense 6/11 - 6
17-7578191-A-C c.658T>G p.Tyr220Asp Missense 6/11 - 4
17-7578191-TAGGGCACCA-T c.650_658del p.Val217_Tyr220delinsAsp MultiAAMissense 6/11 - 1
17-7578193-G-A c.656C>T p.Pro219Leu Missense 6/11 - 3
17-7578194-G-A c.655C>T p.Pro219Ser Missense 6/11 - 7
17-7578195-CAC-ATC c.653_654delinsAT p.Val218Asp Missense 6/11 - 1
17-7578195-CAC-TAT c.652_654delinsATA p.Val218Ile Missense 6/11 - 1
17-7578196-A-T c.653T>A p.Val218Glu Missense 6/11 - 2
17-7578196-A-G c.653T>C p.Val218Ala Missense 6/11 - 2
17-7578196-A-C c.653T>G p.Val218Gly Missense 6/11 - 2
17-7578197-C-G c.652G>C p.Val218Leu Missense 6/11 - 3
17-7578197-C-T c.652G>A p.Val218Met Missense 6/11 - 2
17-7578197-C-A c.652G>T p.Val218Leu Missense 6/11 - 3
17-7578198-CCACCACACTATGTCGAAAAGTGTT-C c.628_651del p.Asn210_Val217del InFrameDeletion 6/11 - 1
17-7578198-CA-AC c.650_651delinsGT p.Val217Gly Missense 6/11 - 1
17-7578199-A-C c.650T>G p.Val217Gly Missense 6/11 - 4
17-7578200-C-T c.649G>A p.Val217Met Missense 6/11 - 10
17-7578201-C-T c.648G>A p.Val216Val Synonymous 6/11 - 1
17-7578201-C-A c.648G>T p.Val216Val Synonymous 6/11 - 2
17-7578201-C-G c.648G>C p.Val216Val Synonymous 6/11 - 1
17-7578201-CCAC-C c.652_654del p.Val218del InFrameDeletion 6/11 - 4
17-7578202-A-T c.647T>A p.Val216Glu Missense 6/11 - 3
17-7578202-A-G c.647T>C p.Val216Ala Missense 6/11 - 2
17-7578202-A-C c.647T>G p.Val216Gly Missense 6/11 - 3
17-7578202-A-ATAA c.647_648insTAT p.Val216_Val217insMet InFrameInsertion 6/11 - 1
17-7578203-C-T c.646G>A p.Val216Met Missense 6/11 - 41
17-7578203-C-G c.646G>C p.Val216Leu Missense 6/11 - 6
17-7578204-ACT-TGA c.643_645delinsTCA p.Ser215Ser Nonsense 6/11 - 1
17-7578206-T-G c.643A>C p.Ser215Arg Missense 6/11 - 18
17-7578204-A-T c.645T>A p.Ser215Arg Missense 6/11 - 18
17-7578204-A-C c.645T>G p.Ser215Arg Missense 6/11 - 18
17-7578204-A-AAGA c.645_646insCTT p.Ser215_Val216insLeu InFrameInsertion 6/11 - 1
17-7578205-ACTATGTCGAAAA-A c.634_645del p.Phe212_Ser215del InFrameDeletion 6/11 - 1
17-7578205-ACTA-A c.643_645del p.Ser215del InFrameDeletion 6/11 - 1
17-7578205-C-T c.644G>A p.Ser215Asn Missense 6/11 - 10
17-7578205-C-A c.644G>T p.Ser215Ile Missense 6/11 - 18
17-7578205-CT-GC c.643_644delinsGC p.Ser215Ala Missense 6/11 - 8
17-7578205-CT-GA c.643_644delinsTC p.Ser215Ser Missense 6/11 - 5
17-7578206-T-C c.643A>G p.Ser215Gly Missense 6/11 - 18
17-7578206-T-A c.643A>T p.Ser215Cys Missense 6/11 - 4
17-7578207-TAT-T c.642_643del p.His214Glnfs*7 Frameshift 6/11 - 1
17-7578207-A-T c.642T>A p.His214Gln Missense 6/11 - 2
17-7578207-A-C c.642T>G p.His214Gln Missense 6/11 - 2
17-7578208-T-A c.641A>T p.His214Leu Missense 6/11 - 1
17-7578208-T-C c.641A>G p.His214Arg Missense 6/11 - 33
17-7578208-TG-GC c.640_641delinsGC p.His214Ala Missense 6/11 - 1
17-7578208-TG-AC c.640_641delinsGT p.His214Val Missense 6/11 - 1
17-7578209-G-T c.640C>A p.His214Asn Missense 6/11 - 1
17-7578209-G-C c.640C>G p.His214Asp Missense 6/11 - 1
17-7578209-G-A c.640C>T p.His214Tyr Missense 6/11 - 6
17-7578210-T-C c.639A>G p.Arg213Arg Synonymous 6/11 - 41
17-7578210-T-A c.639A>T p.Arg213Arg Synonymous 6/11 - 39
17-7578210-TCG-CCA c.637_639delinsTGG p.Arg213Trp Missense 6/11 - 1
17-7578210-TCG-AGC c.637_639delinsGCT p.Arg213Ala Missense 6/11 - 1
17-7578211-CG-AC c.637_638delinsGT p.Arg213Val Missense 6/11 - 1
17-7578211-C-T c.638G>A p.Arg213Gln Missense 6/11 - 56
17-7578211-C-G c.638G>C p.Arg213Pro Missense 6/11 - 7
17-7578211-C-A c.638G>T p.Arg213Leu Missense 6/11 - 19
17-7578210-T-G c.639A>C p.Arg213Arg Synonymous 6/11 - 33
17-7578212-CGAAAAGTGTTTC-C c.628_639del p.Asn210_Arg213del InFrameDeletion 6/11 - 1
17-7578212-CGAAAAGTGTTTCTGTCATC-C c.621_639del p.Asp208Ilefs*33 Frameshift 6/11 - 1
17-7578212-G-T c.637C>A p.Arg213Arg Synonymous 6/11 - 33
17-7578212-G-C c.637C>G p.Arg213Gly Missense 6/11 - 8
17-7578212-G-A c.637C>T p.Arg213* Nonsense 6/11 - 134
17-7578213-A-G c.636T>C p.Phe212Phe Synonymous 6/11 - 1
17-7578215-A-G c.634T>C p.Phe212Leu Missense 6/11 - 1
17-7578215-A-C c.634T>G p.Phe212Val Missense 6/11 - 1
17-7578215-A-T c.634T>A p.Phe212Ile Missense 6/11 - 1
17-7578216-AGT-GAG c.631_633delinsCTC p.Thr211Leu Missense 6/11 - 1
17-7578216-A-T c.633T>A p.Thr211Thr Synonymous 6/11 - 1
17-7578216-A-G c.633T>C p.Thr211Thr Synonymous 6/11 - 1
17-7578216-A-C c.633T>G p.Thr211Thr Synonymous 6/11 - 1
17-7578216-AG-TG c.633delinsA p.Thr211Thr Missense 6/11 - 1
17-7578216-AA-A c.636del p.Arg213Aspfs*34 Frameshift 6/11 - 2
17-7578217-GT-CA c.631_632delinsTG p.Thr211Cys Missense 6/11 - 1
17-7578217-G-C c.632C>G p.Thr211Ser Missense 6/11 - 1
17-7578217-G-A c.632C>T p.Thr211Ile Missense 6/11 - 15
17-7578217-GT-GA c.631delinsT p.Thr211Ser Missense 6/11 - 1
17-7578218-T-A c.631A>T p.Thr211Ser Missense 6/11 - 1
17-7578218-T-TT c.631dup p.Thr211Asnfs*5 Frameshift 6/11 - 1
17-7578218-T-C c.631A>G p.Thr211Ala Missense 6/11 - 3
17-7578218-T-G c.631A>C p.Thr211Pro Missense 6/11 - 1
17-7578219-G-C c.630C>G p.Asn210Lys Missense 6/11 - 2
17-7578220-TT-GG c.628_629delinsCC p.Asn210Pro Missense 6/11 - 1
17-7578220-T-C c.629A>G p.Asn210Ser Missense 6/11 - 1
17-7578221-T-C c.628A>G p.Asn210Asp Missense 6/11 - 1
17-7578221-T-A c.628A>T p.Asn210Tyr Missense 6/11 - 2
17-7578221-T-TA c.627_628insT p.Asn210* Nonsense 6/11 - 2
17-7578222-TTCTGTCATCCAA-T c.616_627del p.Leu206_Arg209del InFrameDeletion 6/11 - 1
17-7578222-T-G c.627A>C p.Arg209Ser Missense 6/11 - 2
17-7578222-T-A c.627A>T p.Arg209Ser Missense 6/11 - 2
17-7578222-TCT-TGG c.625_626delinsCC p.Arg209Pro Missense 6/11 - 3
17-7578223-C-T c.626G>A p.Arg209Lys Missense 6/11 - 8
17-7578223-CT-CC c.625delinsG p.Arg209Gly Missense 6/11 - 4
17-7578223-CT-CA c.625delinsT p.Arg209* Missense 6/11 - 5
17-7578223-C-G c.626G>C p.Arg209Thr Missense 6/11 - 3
17-7578223-C-A c.626G>T p.Arg209Ile Missense 6/11 - 1
17-7578223-TCT-T c.626_627del p.Arg209Lysfs*6 Frameshift 6/11 - 6
17-7578224-T-A c.625A>T p.Arg209* Nonsense 6/11 - 4
17-7578224-T-TA c.624_625insT p.Arg209* Nonsense 6/11 - 3
17-7578225-G-A c.624C>T p.Asp208Asp Synonymous 6/11 - 1
17-7578225-G-C c.624C>G p.Asp208Glu Missense 6/11 - 2
17-7578225-G-T c.624C>A p.Asp208Glu Missense 6/11 - 2
17-7578226-TC-AT c.622_623delinsAT p.Asp208Ile Missense 6/11 - 1
17-7578226-T-G c.623A>C p.Asp208Ala Missense 6/11 - 1
17-7578226-T-A c.623A>T p.Asp208Val Missense 6/11 - 4
17-7578226-T-C c.623A>G p.Asp208Gly Missense 6/11 - 1
17-7578227-C-T c.622G>A p.Asp208Asn Missense 6/11 - 2
17-7578227-C-A c.622G>T p.Asp208Tyr Missense 6/11 - 1
17-7578227-C-G c.622G>C p.Asp208His Missense 6/11 - 1
17-7578228-A-AA c.621dup p.Asp208* Nonsense 6/11 - 1
17-7578228-ATC-ATG c.619delinsC p.Asp207His Missense 6/11 - 1
17-7578228-A-T c.621T>A p.Asp207Glu Missense 6/11 - 1
17-7578228-A-C c.621T>G p.Asp207Glu Missense 6/11 - 1
17-7578229-T-C c.620A>G p.Asp207Gly Missense 6/11 - 2
17-7578229-T-G c.620A>C p.Asp207Ala Missense 6/11 - 1
17-7578229-T-A c.620A>T p.Asp207Val Missense 6/11 - 1
17-7578229-ATCCAAATACTCCACA-A c.608_622del p.Val203_Asp207del InFrameDeletion 6/11 - 1
17-7578230-C-T c.619G>A p.Asp207Asn Missense 6/11 - 1
17-7578232-AA-AG c.616delinsC p.Leu206Leu Missense 6/11 - 1
17-7578232-AA-CC c.616_617delinsGG p.Leu206Gly Missense 6/11 - 1
17-7578232-A-T c.617T>A p.Leu206* Nonsense 6/11 - 1
17-7578232-A-C c.617T>G p.Leu206Trp Missense 6/11 - 1
17-7578234-A-T c.615T>A p.Tyr205* Nonsense 6/11 - 1
17-7578234-A-C c.615T>G p.Tyr205* Nonsense 6/11 - 1
17-7578234-A-G c.615T>C p.Tyr205Tyr Synonymous 6/11 - 1
17-7578235-T-C c.614A>G p.Tyr205Cys Missense 6/11 - 42
17-7578235-ATA-A c.614_615del p.Tyr205Phefs*3 Frameshift 6/11 - 1
17-7578235-T-G c.614A>C p.Tyr205Ser Missense 6/11 - 3
17-7578235-T-A c.614A>T p.Tyr205Phe Missense 6/11 - 7
17-7578236-A-C c.613T>G p.Tyr205Asp Missense 6/11 - 14
17-7578236-A-AT c.612_613insA p.Tyr205Ilefs*4 Frameshift 6/11 - 2
17-7578236-A-G c.613T>C p.Tyr205His Missense 6/11 - 6
17-7578238-CTCC-C c.610_612del p.Glu204del InFrameDeletion 6/11 - 1
17-7578238-T-C c.611A>G p.Glu204Gly Missense 6/11 - 2
17-7578238-T-G c.611A>C p.Glu204Ala Missense 6/11 - 1
17-7578239-C-T c.610G>A p.Glu204Lys Missense 6/11 - 2
17-7578239-C-A c.610G>T p.Glu204* Nonsense 6/11 - 23
17-7578240-CAC-ATC c.608_609delinsAT p.Val203Asp Missense 6/11 - 1
17-7578240-CC-C c.610del p.Glu204Serfs*43 Frameshift 6/11 - 1
17-7578241-A-T c.608T>A p.Val203Glu Missense 6/11 - 1
17-7578241-A-G c.608T>C p.Val203Ala Missense 6/11 - 13
17-7578242-C-A c.607G>T p.Val203Leu Missense 6/11 - 6
17-7578242-C-T c.607G>A p.Val203Met Missense 6/11 - 6
17-7578243-CACGCAAATTTCCTTCCAC-C c.594_611del p.Gly199_Glu204del InFrameDeletion 6/11 - 1
17-7578243-A-G c.606T>C p.Arg202Arg Synonymous 6/11 - 2
17-7578244-C-T c.605G>A p.Arg202His Missense 6/11 - 4
17-7578244-CG-GT c.604_605delinsAC p.Arg202Thr Missense 6/11 - 1
17-7578244-CG-GC c.604_605delinsGC p.Arg202Ala Missense 6/11 - 1
17-7578244-C-A c.605G>T p.Arg202Leu Missense 6/11 - 3
17-7578245-G-A c.604C>T p.Arg202Cys Missense 6/11 - 4
17-7578245-G-T c.604C>A p.Arg202Ser Missense 6/11 - 3
17-7578246-C-CC c.603dup p.Arg202Alafs*7 Frameshift 6/11 - 1
17-7578247-A-T c.602T>A p.Leu201* Nonsense 6/11 - 4
17-7578248-AAA-A c.601_602del p.Leu201Alafs*7 Frameshift 6/11 - 1
17-7578249-A-C c.600T>G p.Asn200Lys Missense 6/11 - 1
17-7578249-A-T c.600T>A p.Asn200Lys Missense 6/11 - 1
17-7578249-AATTTC-A c.596_600del p.Gly199Valfs*8 Frameshift 6/11 - 1
17-7578249-AA-A c.602del p.Leu201Cysfs*46 Frameshift 6/11 - 1
17-7578250-T-C c.599A>G p.Asn200Ser Missense 6/11 - 1
17-7578250-T-A c.599A>T p.Asn200Ile Missense 6/11 - 1
17-7578252-T-A c.597A>T p.Gly199Gly Synonymous 6/11 - 2
17-7578252-T-C c.597A>G p.Gly199Gly Synonymous 6/11 - 2
17-7578252-T-G c.597A>C p.Gly199Gly Synonymous 6/11 - 2
17-7578253-C-A c.596G>T p.Gly199Val Missense 6/11 - 12
17-7578253-C-T c.596G>A p.Gly199Glu Missense 6/11 - 6
17-7578254-C-T c.595G>A p.Gly199Arg Missense 6/11 - 5
17-7578255-T-A c.594A>T p.Glu198Asp Missense 6/11 - 1
17-7578255-T-G c.594A>C p.Glu198Asp Missense 6/11 - 1
17-7578256-T-C c.593A>G p.Glu198Gly Missense 6/11 - 2
17-7578257-C-A c.592G>T p.Glu198* Nonsense 6/11 - 5
17-7578257-C-T c.592G>A p.Glu198Lys Missense 6/11 - 2
17-7578259-A-C c.590T>G p.Val197Gly Missense 6/11 - 4
17-7578259-A-T c.590T>A p.Val197Glu Missense 6/11 - 3
17-7578259-AC-AG c.589delinsC p.Val197Leu Missense 6/11 - 1
17-7578259-AC-CT c.589_590delinsAG p.Val197Arg Missense 6/11 - 1
17-7578260-C-T c.589G>A p.Val197Met Missense 6/11 - 8
17-7578260-C-A c.589G>T p.Val197Leu Missense 6/11 - 1
17-7578260-C-G c.589G>C p.Val197Leu Missense 6/11 - 1
17-7578261-CTCGGAT-C c.583_588del p.Ile195_Arg196del InFrameDeletion 6/11 - 1
17-7578262-CG-GC c.586_587delinsGC p.Arg196Ala Missense 6/11 - 1
17-7578262-C-T c.587G>A p.Arg196Gln Missense 6/11 - 13
17-7578262-C-A c.587G>T p.Arg196Leu Missense 6/11 - 3
17-7578262-C-G c.587G>C p.Arg196Pro Missense 6/11 - 7
17-7578262-CG-GA c.586_587delinsTC p.Arg196Ser Missense 6/11 - 1
17-7578263-G-C c.586C>G p.Arg196Gly Missense 6/11 - 2
17-7578263-G-A c.586C>T p.Arg196* Nonsense 6/11 - 91
17-7578264-G-A c.585C>T p.Ile195Ile Synonymous 6/11 - 1
17-7578264-G-T c.585C>A p.Ile195Ile Synonymous 6/11 - 1
17-7578264-G-C c.585C>G p.Ile195Met Missense 6/11 - 1
17-7578265-A-T c.584T>A p.Ile195Asn Missense 6/11 - 8
17-7578265-A-G c.584T>C p.Ile195Thr Missense 6/11 - 64
17-7578266-T-A c.583A>T p.Ile195Phe Missense 6/11 - 13
17-7578266-T-C c.583A>G p.Ile195Val Missense 6/11 - 2
17-7578266-T-G c.583A>C p.Ile195Leu Missense 6/11 - 3
17-7578267-A-G c.582T>C p.Leu194Leu Synonymous 6/11 - 1
17-7578268-A-T c.581T>A p.Leu194His Missense 6/11 - 6
17-7578268-A-C c.581T>G p.Leu194Arg Missense 6/11 - 36
17-7578268-A-G c.581T>C p.Leu194Pro Missense 6/11 - 5
17-7578269-G-A c.580C>T p.Leu194Phe Missense 6/11 - 70
17-7578269-G-T c.580C>A p.Leu194Ile Missense 6/11 - 1
17-7578269-G-C c.580C>G p.Leu194Val Missense 6/11 - 1
17-7578270-A-T c.579T>A p.His193Gln Missense 6/11 - 1
17-7578270-A-C c.579T>G p.His193Gln Missense 6/11 - 1
17-7578271-T-G c.578A>C p.His193Pro Missense 6/11 - 11
17-7578271-TG-GC c.577_578delinsGC p.His193Ala Missense 6/11 - 2
17-7578271-ATGCTGA-A c.575_580del p.Gln192_His193del InFrameDeletion 6/11 - 1
17-7578271-TG-AC c.577_578delinsGT p.His193Val Missense 6/11 - 1
17-7578271-T-A c.578A>T p.His193Leu Missense 6/11 - 30
17-7578271-T-C c.578A>G p.His193Arg Missense 6/11 - 72
17-7578271-AT-A c.578del p.His193Leufs*54 Frameshift 6/11 - 1
17-7578272-G-A c.577C>T p.His193Tyr Missense 6/11 - 28
17-7578272-G-C c.577C>G p.His193Asp Missense 6/11 - 2
17-7578272-G-T c.577C>A p.His193Asn Missense 6/11 - 3
17-7578272-GC-TG c.576_577delinsCA p.Gln192_His193delinsHisAsn MultiAAMissense 6/11 - 1
17-7578273-C-G c.576G>C p.Gln192His Missense 6/11 - 3
17-7578274-T-C c.575A>G p.Gln192Arg Missense 6/11 - 1
17-7578274-T-A c.575A>T p.Gln192Leu Missense 6/11 - 2
17-7578275-G-A c.574C>T p.Gln192* Nonsense 6/11 - 35
17-7578276-A-AA c.573dup p.Gln192Serfs*17 Frameshift 6/11 - 1
17-7578277-G-C c.572C>G p.Pro191Arg Missense 6/11 - 1
17-7578277-AGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAA-A c.559+37_573del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/11 5/10 1
17-7578279-GAGG-G c.572_574del p.Pro191del InFrameDeletion 6/11 - 5
17-7578280-G-C c.569C>G p.Pro190Arg Missense 6/11 - 2
17-7578280-G-A c.569C>T p.Pro190Leu Missense 6/11 - 20
17-7578281-G-C c.568C>G p.Pro190Ala Missense 6/11 - 5
17-7578281-G-T c.568C>A p.Pro190Thr Missense 6/11 - 6
17-7578281-G-A c.568C>T p.Pro190Ser Missense 6/11 - 5
17-7578282-G-A c.567C>T p.Ala189Ala Synonymous 6/11 - 1
17-7578282-G-C c.567C>G p.Ala189Ala Synonymous 6/11 - 1
17-7578282-G-T c.567C>A p.Ala189Ala Synonymous 6/11 - 1
17-7578283-G-A c.566C>T p.Ala189Val Missense 6/11 - 11
17-7578284-C-G c.565G>C p.Ala189Pro Missense 6/11 - 1
17-7578284-C-A c.565G>T p.Ala189Ser Missense 6/11 - 1
17-7578284-C-T c.565G>A p.Ala189Thr Missense 6/11 - 1
17-7578285-C-G c.564G>C p.Leu188Leu Synonymous 6/11 - 1
17-7578285-C-A c.564G>T p.Leu188Leu Synonymous 6/11 - 1
17-7578285-C-T c.564G>A p.Leu188Leu Synonymous 6/11 - 1
17-7578285-CAG-GAC c.562_564delinsGTC p.Leu188Val Missense 6/11 - 1
17-7578287-G-A c.562C>T p.Leu188Leu Synonymous 6/11 - 1
17-7578286-AG-TA c.562_563delinsTA p.Leu188* Missense 6/11 - 1
17-7578286-A-G c.563T>C p.Leu188Pro Missense 6/11 - 2
17-7578286-A-T c.563T>A p.Leu188Gln Missense 6/11 - 1
17-7578287-G-T c.562C>A p.Leu188Met Missense 6/11 - 2
17-7578289-C-T c.560G>A p.Gly187Asp Missense 6/11 - 2
17-7578290-C-G c.560-1G>C - IntronicSNV - 5/10 1
17-7578290-C-T c.560-1G>A - IntronicSNV - 5/10 2
17-7578290-C-A c.560-1G>T - IntronicSNV - 5/10 1
17-7578291-T-C c.560-2A>G - IntronicSNV - 5/10 1
17-7578291-CTAAGAG-C c.560-7_560-2del - IntronicDeletion - 5/10 1
17-7578304-GTGAGGAATCAG-G c.560-19_560-9del - IntronicDeletion - 5/10 1
17-7578370-C-T c.559+1G>A - IntronicSNV - 5/10 5
17-7578370-C-A c.559+1G>T - IntronicSNV - 5/10 2
17-7578371-CC-C c.559+1del - IntronicDeletion 5/11 - 1
17-7578371-C-CT c.558_559insA p.Gly187Argfs*22 SpliceDonorInsertion 5/11 - 1
17-7578371-C-T c.559G>A p.Gly187Ser Missense 5/11 - 7
17-7578371-C-CG c.558_559insC p.Gly187Argfs*22 SpliceDonorInsertion 5/11 - 1
17-7578372-A-AA c.558dup p.Gly187Trpfs*22 SpliceDonorInsertion 5/11 - 1
17-7578372-A-G c.558T>C p.Asp186Asp Synonymous 5/11 - 1
17-7578372-A-T c.558T>A p.Asp186Glu Missense 5/11 - 2
17-7578373-T-G c.557A>C p.Asp186Ala Missense 5/11 - 5
17-7578373-T-C c.557A>G p.Asp186Gly Missense 5/11 - 1
17-7578374-C-T c.556G>A p.Asp186Asn Missense 5/11 - 1
17-7578375-G-C c.555C>G p.Ser185Arg Missense 5/11 - 1
17-7578375-G-A c.555C>T p.Ser185Ser Synonymous 5/11 - 2
17-7578376-C-T c.554G>A p.Ser185Asn Missense 5/11 - 3
17-7578377-T-C c.553A>G p.Ser185Gly Missense 5/11 - 1
17-7578377-T-A c.553A>T p.Ser185Cys Missense 5/11 - 1
17-7578378-A-AA c.552dup p.Ser185* Nonsense 5/11 - 1
17-7578378-ATC-TAA c.550_552delinsTTA p.Asp184Leu Nonsense 5/11 - 1
17-7578378-TATCT-T c.551_554del p.Asp184Alafs*62 Frameshift 5/11 - 1
17-7578379-T-G c.551A>C p.Asp184Ala Missense 5/11 - 1
17-7578379-T-C c.551A>G p.Asp184Gly Missense 5/11 - 1
17-7578380-C-T c.550G>A p.Asp184Asn Missense 5/11 - 6
17-7578380-C-A c.550G>T p.Asp184Tyr Missense 5/11 - 1
17-7578380-C-G c.550G>C p.Asp184His Missense 5/11 - 2
17-7578380-C-CA c.549_550insT p.Asp184* Nonsense 5/11 - 1
17-7578382-G-T c.548C>A p.Ser183* Nonsense 5/11 - 12
17-7578382-G-A c.548C>T p.Ser183Leu Missense 5/11 - 3
17-7578382-G-C c.548C>G p.Ser183* Nonsense 5/11 - 15
17-7578383-A-C c.547T>G p.Ser183Ala Missense 5/11 - 4
17-7578383-GAG-G c.547_548del p.Ser183Argfs*2 Frameshift 5/11 - 1
17-7578384-G-T c.546C>A p.Cys182* Nonsense 5/11 - 2
17-7578384-G-A c.546C>T p.Cys182Cys Synonymous 5/11 - 1
17-7578385-CA-AC c.544_545delinsGT p.Cys182Val Missense 5/11 - 3
17-7578385-CA-GC c.544_545delinsGC p.Cys182Ala Missense 5/11 - 3
17-7578385-C-T c.545G>A p.Cys182Tyr Missense 5/11 - 3
17-7578386-CAGC-C c.545_547del p.Cys182del InFrameDeletion 5/11 - 1
17-7578386-A-T c.544T>A p.Cys182Ser Missense 5/11 - 9
17-7578386-A-C c.544T>G p.Cys182Gly Missense 5/11 - 1
17-7578385-C-G c.545G>C p.Cys182Ser Missense 5/11 - 9
17-7578387-AGCGCTCATGGTGGGGGCAGCGCCTCA-A c.520_545del p.Arg174Leufs*3 Frameshift 5/11 - 1
17-7578388-C-T c.542G>A p.Arg181His Missense 5/11 - 25
17-7578388-C-A c.542G>T p.Arg181Leu Missense 5/11 - 11
17-7578388-C-G c.542G>C p.Arg181Pro Missense 5/11 - 11
17-7578388-CG-GC c.541_542delinsGC p.Arg181Ala Missense 5/11 - 1
17-7578388-CG-TA c.541_542delinsTA p.Arg181Tyr Missense 5/11 - 1
17-7578389-G-T c.541C>A p.Arg181Ser Missense 5/11 - 1
17-7578389-G-A c.541C>T p.Arg181Cys Missense 5/11 - 27
17-7578391-CTCATGGTGGGGGCAGCGC-C c.529_546del p.Pro177_Cys182del InFrameDeletion 5/11 - 1
17-7578391-TC-AG c.538_539delinsCT p.Glu180Leu Missense 5/11 - 7
17-7578391-T-C c.539A>G p.Glu180Gly Missense 5/11 - 2
17-7578391-T-G c.539A>C p.Glu180Ala Missense 5/11 - 2
17-7578392-C-T c.538G>A p.Glu180Lys Missense 5/11 - 11
17-7578392-C-A c.538G>T p.Glu180* Nonsense 5/11 - 6
17-7578393-CATG-C c.535_537del p.His179del InFrameDeletion 5/11 - 1
17-7578393-A-T c.537T>A p.His179Gln Missense 5/11 - 24
17-7578393-A-G c.537T>C p.His179His Synonymous 5/11 - 2
17-7578393-A-C c.537T>G p.His179Gln Missense 5/11 - 24
17-7578393-ATG-TAA c.535_537delinsTTA p.His179Leu Nonsense 5/11 - 2
17-7578393-ATG-GAG c.536_537delinsTC p.His179Leu Missense 5/11 - 1
17-7578394-T-C c.536A>G p.His179Arg Missense 5/11 - 116
17-7578394-T-A c.536A>T p.His179Leu Missense 5/11 - 22
17-7578394-T-G c.536A>C p.His179Pro Missense 5/11 - 8
17-7578395-G-T c.535C>A p.His179Asn Missense 5/11 - 10
17-7578395-G-A c.535C>T p.His179Tyr Missense 5/11 - 65
17-7578395-G-C c.535C>G p.His179Asp Missense 5/11 - 4
17-7578396-G-C c.534C>G p.His178Gln Missense 5/11 - 4
17-7578397-TG-GC c.532_533delinsGC p.His178Ala Missense 5/11 - 3
17-7578397-T-A c.533A>T p.His178Leu Missense 5/11 - 1
17-7578397-T-G c.533A>C p.His178Pro Missense 5/11 - 3
17-7578398-G-T c.532C>A p.His178Asn Missense 5/11 - 1
17-7578398-G-A c.532C>T p.His178Tyr Missense 5/11 - 12
17-7578398-G-C c.532C>G p.His178Asp Missense 5/11 - 12
17-7578400-G-A c.530C>T p.Pro177Leu Missense 5/11 - 14
17-7578400-GG-GT c.529delinsA p.Pro177Thr Missense 5/11 - 1
17-7578400-G-C c.530C>G p.Pro177Arg Missense 5/11 - 13
17-7578400-G-T c.530C>A p.Pro177His Missense 5/11 - 1
17-7578400-GGGGCAGCGCCTCACAACCTCCGTC-G c.507_530del p.Met169_Pro177delinsIle MultiAAMissense 5/11 - 1
17-7578400-GGGGCAGCGCCTCACAACCTCCGTCATG-G c.505_531del p.Met169_Pro177del InFrameDeletion 5/11 - 1
17-7578401-G-T c.529C>A p.Pro177Thr Missense 5/11 - 5
17-7578401-G-A c.529C>T p.Pro177Ser Missense 5/11 - 5
17-7578402-GGCAGCG-G c.524_529del p.Arg175_Cys176del InFrameDeletion 5/11 - 1
17-7578402-G-T c.528C>A p.Cys176* Nonsense 5/11 - 1
17-7578402-G-C c.528C>G p.Cys176Trp Missense 5/11 - 7
17-7578403-C-A c.527G>T p.Cys176Phe Missense 5/11 - 98
17-7578403-C-T c.527G>A p.Cys176Tyr Missense 5/11 - 52
17-7578403-CA-GC c.526_527delinsGC p.Cys176Ala Missense 5/11 - 1
17-7578403-CA-AC c.526_527delinsGT p.Cys176Val Missense 5/11 - 1
17-7578404-A-T c.526T>A p.Cys176Ser Missense 5/11 - 21
17-7578404-A-C c.526T>G p.Cys176Gly Missense 5/11 - 3
17-7578404-A-G c.526T>C p.Cys176Arg Missense 5/11 - 6
17-7578403-C-G c.527G>C p.Cys176Ser Missense 5/11 - 20
17-7578405-G-T c.525C>A p.Arg175Arg Synonymous 5/11 - 5
17-7578405-AGCGCCTCAC-A c.517_525del p.Val173_Arg175del InFrameDeletion 5/11 - 1
17-7578405-GCG-TGG c.524_525delinsCA p.Arg175Pro Missense 5/11 - 1
17-7578406-C-G c.524G>C p.Arg175Pro Missense 5/11 - 35
17-7578406-C-T c.524G>A p.Arg175His Missense 5/11 - 1362
17-7578406-C-A c.524G>T p.Arg175Leu Missense 5/11 - 26
17-7578406-CG-TA c.523_524delinsTA p.Arg175Tyr Missense 5/11 - 1
17-7578406-CG-GC c.523_524delinsGC p.Arg175Ala Missense 5/11 - 4
17-7578407-G-A c.523C>T p.Arg175Cys Missense 5/11 - 23
17-7578407-G-C c.523C>G p.Arg175Gly Missense 5/11 - 22
17-7578407-G-T c.523C>A p.Arg175Ser Missense 5/11 - 8
17-7578407-CGCCTCACAACC-C c.514_524del p.Val172Leufs*5 Frameshift 5/11 - 1
17-7578407-CGCCTCACAACCTCCGTCATGTGC-C c.503_525del p.His168Leufs*5 Frameshift 5/11 - 1
17-7578408-C-G c.522G>C p.Arg174Ser Missense 5/11 - 3
17-7578408-C-A c.522G>T p.Arg174Ser Missense 5/11 - 3
17-7578408-CCT-CAT c.521delinsT p.Arg174Met Missense 5/11 - 2
17-7578409-CT-TA c.520_521delinsTA p.Arg174* Nonsense 5/11 - 4
17-7578409-CT-GA c.520_521delinsTC p.Arg174Ser Missense 5/11 - 1
17-7578409-C-T c.521G>A p.Arg174Lys Missense 5/11 - 13
17-7578409-CT-GC c.520_521delinsGC p.Arg174Ala Missense 5/11 - 4
17-7578410-T-A c.520A>T p.Arg174Trp Missense 5/11 - 5
17-7578410-T-C c.520A>G p.Arg174Gly Missense 5/11 - 1
17-7578411-CAC-ATC c.518_519delinsAT p.Val173Asp Missense 5/11 - 1
17-7578412-A-C c.518T>G p.Val173Gly Missense 5/11 - 8
17-7578412-A-T c.518T>A p.Val173Glu Missense 5/11 - 5
17-7578412-A-G c.518T>C p.Val173Ala Missense 5/11 - 14
17-7578413-C-A c.517G>T p.Val173Leu Missense 5/11 - 44
17-7578413-C-T c.517G>A p.Val173Met Missense 5/11 - 45
17-7578414-A-C c.516T>G p.Val172Val Synonymous 5/11 - 2
17-7578415-A-G c.515T>C p.Val172Ala Missense 5/11 - 2
17-7578415-A-T c.515T>A p.Val172Asp Missense 5/11 - 2
17-7578416-C-A c.514G>T p.Val172Phe Missense 5/11 - 21
17-7578416-C-T c.514G>A p.Val172Ile Missense 5/11 - 3
17-7578418-T-C c.512A>G p.Glu171Gly Missense 5/11 - 1
17-7578418-TC-AG c.511_512delinsCT p.Glu171Leu Missense 5/11 - 1
17-7578418-T-G c.512A>C p.Glu171Ala Missense 5/11 - 2
17-7578419-C-A c.511G>T p.Glu171* Nonsense 5/11 - 12
17-7578419-C-T c.511G>A p.Glu171Lys Missense 5/11 - 6
17-7578420-CGT-TGT c.510delinsA p.Thr170Thr Missense 5/11 - 1
17-7578420-C-A c.510G>T p.Thr170Thr Synonymous 5/11 - 1
17-7578420-C-G c.510G>C p.Thr170Thr Synonymous 5/11 - 1
17-7578420-C-T c.510G>A p.Thr170Thr Synonymous 5/11 - 1
17-7578421-G-A c.509C>T p.Thr170Met Missense 5/11 - 4
17-7578423-C-T c.507G>A p.Met169Ile Missense 5/11 - 5
17-7578423-CAT-TGT c.506_507delinsCA p.Met169Thr Missense 5/11 - 1
17-7578424-A-G c.506T>C p.Met169Thr Missense 5/11 - 1
17-7578424-CATGTGCTGTGAC-C c.496_507del p.Ser166_Met169del InFrameDeletion 5/11 - 1
17-7578426-TG-T c.504del p.His168Glnfs*2 Frameshift 5/11 - 1
17-7578426-G-A c.504C>T p.His168His Synonymous 5/11 - 1
17-7578426-G-T c.504C>A p.His168Gln Missense 5/11 - 2
17-7578426-GTG-AAGATA c.502_504delinsTATCTT p.His168delinsTyrLeu MultiAAMissense 5/11 - 1
17-7578427-T-C c.503A>G p.His168Arg Missense 5/11 - 28
17-7578427-T-A c.503A>T p.His168Leu Missense 5/11 - 3
17-7578427-TGCTG-AGGTA c.499_503delinsTACCT p.Gln167_His168delinsTyrLeu MultiAAMissense 5/11 - 1
17-7578427-TG-GT c.502_503delinsAC p.His168Thr Missense 5/11 - 1
17-7578427-T-G c.503A>C p.His168Pro Missense 5/11 - 8
17-7578428-G-T c.502C>A p.His168Asn Missense 5/11 - 1
17-7578428-G-A c.502C>T p.His168Tyr Missense 5/11 - 6
17-7578429-C-CC c.501dup p.His168Alafs*13 Frameshift 5/11 - 1
17-7578429-C-T c.501G>A p.Gln167Gln Synonymous 5/11 - 2
17-7578429-C-A c.501G>T p.Gln167His Missense 5/11 - 1
17-7578429-C-G c.501G>C p.Gln167His Missense 5/11 - 1
17-7578430-T-A c.500A>T p.Gln167Leu Missense 5/11 - 1
17-7578431-G-A c.499C>T p.Gln167* Nonsense 5/11 - 10
17-7578432-GTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCC-G c.460_498del p.Gly154_Ser166del InFrameDeletion 5/11 - 1
17-7578432-TGA-AAC c.496_498delinsGTT p.Ser166Val Missense 5/11 - 1
17-7578432-T-C c.498A>G p.Ser166Ser Synonymous 5/11 - 1
17-7578432-T-A c.498A>T p.Ser166Ser Synonymous 5/11 - 1
17-7578432-T-G c.498A>C p.Ser166Ser Synonymous 5/11 - 1
17-7578433-G-A c.497C>T p.Ser166Leu Missense 5/11 - 3
17-7578433-G-T c.497C>A p.Ser166* Nonsense 5/11 - 13
17-7578433-GA-CC c.496_497delinsGG p.Ser166Gly Missense 5/11 - 1
17-7578433-G-C c.497C>G p.Ser166* Nonsense 5/11 - 10
17-7578434-A-ATTGCTTATA c.496_497insATAAGCAAT p.Tyr163_Gln165dup InFrameInsertion 5/11 - 1
17-7578434-A-G c.496T>C p.Ser166Pro Missense 5/11 - 1
17-7578434-A-C c.496T>G p.Ser166Ala Missense 5/11 - 10
17-7578435-C-G c.495G>C p.Gln165His Missense 5/11 - 1
17-7578436-T-G c.494A>C p.Gln165Pro Missense 5/11 - 1
17-7578437-G-T c.493C>A p.Gln165Lys Missense 5/11 - 2
17-7578437-G-A c.493C>T p.Gln165* Nonsense 5/11 - 18
17-7578438-C-G c.492G>C p.Lys164Asn Missense 5/11 - 4
17-7578439-T-C c.491A>G p.Lys164Arg Missense 5/11 - 10
17-7578439-T-G c.491A>C p.Lys164Thr Missense 5/11 - 2
17-7578440-T-G c.490A>C p.Lys164Gln Missense 5/11 - 1
17-7578440-T-C c.490A>G p.Lys164Glu Missense 5/11 - 7
17-7578440-T-A c.490A>T p.Lys164* Nonsense 5/11 - 6
17-7578441-G-A c.489C>T p.Tyr163Tyr Synonymous 5/11 - 1
17-7578441-G-C c.489C>G p.Tyr163* Nonsense 5/11 - 6
17-7578442-T-G c.488A>C p.Tyr163Ser Missense 5/11 - 3
17-7578442-T-C c.488A>G p.Tyr163Cys Missense 5/11 - 82
17-7578442-T-A c.488A>T p.Tyr163Phe Missense 5/11 - 1
17-7578443-A-G c.487T>C p.Tyr163His Missense 5/11 - 12
17-7578443-A-C c.487T>G p.Tyr163Asp Missense 5/11 - 5
17-7578443-A-T c.487T>A p.Tyr163Asn Missense 5/11 - 8
17-7578444-G-C c.486C>G p.Ile162Met Missense 5/11 - 1
17-7578444-G-A c.486C>T p.Ile162Ile Synonymous 5/11 - 4
17-7578445-A-C c.485T>G p.Ile162Ser Missense 5/11 - 2
17-7578445-A-G c.485T>C p.Ile162Thr Missense 5/11 - 1
17-7578445-A-T c.485T>A p.Ile162Asn Missense 5/11 - 1
17-7578445-GATGGCCATGG-G c.477_486del p.Met160Thrfs*7 Frameshift 5/11 - 1
17-7578445-AT-GG c.484_485delinsCC p.Ile162Pro Missense 5/11 - 1
17-7578446-T-A c.484A>T p.Ile162Phe Missense 5/11 - 7
17-7578447-TGGC-T c.481_483del p.Ala161del InFrameDeletion 5/11 - 1
17-7578448-GC-AA c.481_482delinsTT p.Ala161Phe Missense 5/11 - 1
17-7578448-GC-TA c.481_482delinsTA p.Ala161Tyr Missense 5/11 - 1
17-7578448-G-A c.482C>T p.Ala161Val Missense 5/11 - 6
17-7578448-G-C c.482C>G p.Ala161Gly Missense 5/11 - 3
17-7578448-G-T c.482C>A p.Ala161Asp Missense 5/11 - 8
17-7578449-C-A c.481G>T p.Ala161Ser Missense 5/11 - 14
17-7578449-C-T c.481G>A p.Ala161Thr Missense 5/11 - 36
17-7578449-C-G c.481G>C p.Ala161Pro Missense 5/11 - 2
17-7578450-C-T c.480G>A p.Met160Ile Missense 5/11 - 6
17-7578451-AT-GC c.478_479delinsGC p.Met160Ala Missense 5/11 - 1
17-7578451-A-T c.479T>A p.Met160Lys Missense 5/11 - 1
17-7578451-A-G c.479T>C p.Met160Thr Missense 5/11 - 1
17-7578452-T-C c.478A>G p.Met160Val Missense 5/11 - 2
17-7578452-T-A c.478A>T p.Met160Leu Missense 5/11 - 1
17-7578452-T-G c.478A>C p.Met160Leu Missense 5/11 - 1
17-7578453-GGC-AAG c.475_477delinsCTT p.Ala159Leu Missense 5/11 - 1
17-7578453-G-A c.477C>T p.Ala159Ala Synonymous 5/11 - 3
17-7578454-GC-AT c.475_476delinsAT p.Ala159Ile Missense 5/11 - 1
17-7578454-G-C c.476C>G p.Ala159Gly Missense 5/11 - 2
17-7578454-G-A c.476C>T p.Ala159Val Missense 5/11 - 25
17-7578454-G-T c.476C>A p.Ala159Asp Missense 5/11 - 11
17-7578454-GC-TT c.475_476delinsAA p.Ala159Asn Missense 5/11 - 1
17-7578454-GC-TG c.475_476delinsCA p.Ala159His Missense 5/11 - 3
17-7578455-C-G c.475G>C p.Ala159Pro Missense 5/11 - 12
17-7578455-C-T c.475G>A p.Ala159Thr Missense 5/11 - 5
17-7578456-G-A c.474C>T p.Arg158Arg Synonymous 5/11 - 4
17-7578457-C-T c.473G>A p.Arg158His Missense 5/11 - 52
17-7578457-CG-AT c.472_473delinsAT p.Arg158Ile Missense 5/11 - 1
17-7578457-CG-GC c.472_473delinsGC p.Arg158Ala Missense 5/11 - 1
17-7578457-GCG-G c.475_476del p.Ala159Hisfs*21 Frameshift 5/11 - 1
17-7578457-C-G c.473G>C p.Arg158Pro Missense 5/11 - 9
17-7578457-C-A c.473G>T p.Arg158Leu Missense 5/11 - 55
17-7578458-G-C c.472C>G p.Arg158Gly Missense 5/11 - 7
17-7578458-G-A c.472C>T p.Arg158Cys Missense 5/11 - 23
17-7578458-G-T c.472C>A p.Arg158Ser Missense 5/11 - 1
17-7578459-G-C c.471C>G p.Val157Val Synonymous 5/11 - 2
17-7578459-G-A c.471C>T p.Val157Val Synonymous 5/11 - 2
17-7578459-G-T c.471C>A p.Val157Val Synonymous 5/11 - 2
17-7578460-A-T c.470T>A p.Val157Asp Missense 5/11 - 9
17-7578460-A-C c.470T>G p.Val157Gly Missense 5/11 - 14
17-7578460-A-G c.470T>C p.Val157Ala Missense 5/11 - 4
17-7578460-GACG-G c.469_471del p.Val157del InFrameDeletion 5/11 - 1
17-7578460-GACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGC-G c.412_470del p.Ala138Profs*23 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 5/11 - 1
17-7578460-AC-CA c.469_470delinsTG p.Val157Cys Missense 5/11 - 1
17-7578461-ACGCGGGTGCCG-A c.459_469del p.Gly154Profs*23 Frameshift 5/11 - 1
17-7578461-C-T c.469G>A p.Val157Ile Missense 5/11 - 9
17-7578461-C-G c.469G>C p.Val157Leu Missense 5/11 - 2
17-7578461-C-A c.469G>T p.Val157Phe Missense 5/11 - 101
17-7578462-G-T c.468C>A p.Arg156Arg Synonymous 5/11 - 1
17-7578462-G-A c.468C>T p.Arg156Arg Synonymous 5/11 - 1
17-7578462-G-C c.468C>G p.Arg156Arg Synonymous 5/11 - 1
17-7578462-CG-C c.468del p.Val157Serfs*13 Frameshift 5/11 - 1
17-7578462-GC-AA c.467_468delinsTT p.Arg156Leu Missense 5/11 - 1
17-7578462-GCG-AAG c.467_468delinsTT p.Arg156Leu Missense 5/11 - 1
17-7578463-GCGG-G c.466_468del p.Arg156del InFrameDeletion 5/11 - 1
17-7578463-C-T c.467G>A p.Arg156His Missense 5/11 - 19
17-7578463-C-G c.467G>C p.Arg156Pro Missense 5/11 - 27
17-7578463-CG-GC c.466_467delinsGC p.Arg156Ala Missense 5/11 - 1
17-7578464-G-C c.466C>G p.Arg156Gly Missense 5/11 - 1
17-7578464-G-A c.466C>T p.Arg156Cys Missense 5/11 - 7
17-7578465-G-T c.465C>A p.Thr155Thr Synonymous 5/11 - 2
17-7578465-G-A c.465C>T p.Thr155Thr Synonymous 5/11 - 2
17-7578465-GGT-GAG c.463_464delinsCT p.Thr155Leu Missense 5/11 - 2
17-7578467-T-A c.463A>T p.Thr155Ser Missense 5/11 - 3
17-7578466-G-T c.464C>A p.Thr155Asn Missense 5/11 - 11
17-7578466-G-A c.464C>T p.Thr155Ile Missense 5/11 - 14
17-7578467-T-G c.463A>C p.Thr155Pro Missense 5/11 - 10
17-7578467-T-C c.463A>G p.Thr155Ala Missense 5/11 - 7
17-7578468-G-T c.462C>A p.Gly154Gly Synonymous 5/11 - 1
17-7578468-G-C c.462C>G p.Gly154Gly Synonymous 5/11 - 1
17-7578468-G-A c.462C>T p.Gly154Gly Synonymous 5/11 - 1
17-7578469-C-G c.461G>C p.Gly154Ala Missense 5/11 - 1
17-7578469-C-A c.461G>T p.Gly154Val Missense 5/11 - 23
17-7578469-GCCGGGCGGGGGTG-G c.454_466del p.Pro152Alafs*14 Frameshift 5/11 - 2
17-7578469-C-T c.461G>A p.Gly154Asp Missense 5/11 - 3
17-7578470-C-T c.460G>A p.Gly154Ser Missense 5/11 - 7
17-7578470-C-A c.460G>T p.Gly154Cys Missense 5/11 - 1
17-7578471-G-A c.459C>T p.Pro153Pro Synonymous 5/11 - 3
17-7578472-G-A c.458C>T p.Pro153Leu Missense 5/11 - 2
17-7578472-G-T c.458C>A p.Pro153His Missense 5/11 - 2
17-7578473-G-A c.457C>T p.Pro153Ser Missense 5/11 - 2
17-7578473-GGCGGGGGTGTGG-G c.448_459del p.Thr150_Pro153del InFrameDeletion 5/11 - 1
17-7578474-C-G c.456G>C p.Pro152Pro Synonymous 5/11 - 1
17-7578474-CGG-AAC c.454_456delinsGTT p.Pro152Val Missense 5/11 - 1
17-7578474-C-T c.456G>A p.Pro152Pro Synonymous 5/11 - 1
17-7578474-C-A c.456G>T p.Pro152Pro Synonymous 5/11 - 1
17-7578475-G-T c.455C>A p.Pro152Gln Missense 5/11 - 3
17-7578475-G-A c.455C>T p.Pro152Leu Missense 5/11 - 43
17-7578475-G-C c.455C>G p.Pro152Arg Missense 5/11 - 6
17-7578476-G-T c.454C>A p.Pro152Thr Missense 5/11 - 5
17-7578476-G-A c.454C>T p.Pro152Ser Missense 5/11 - 7
17-7578477-G-C c.453C>G p.Pro151Pro Synonymous 5/11 - 1
17-7578478-G-A c.452C>T p.Pro151Leu Missense 5/11 - 1
17-7578478-G-C c.452C>G p.Pro151Arg Missense 5/11 - 7
17-7578478-G-T c.452C>A p.Pro151His Missense 5/11 - 26
17-7578479-G-GG c.455dup p.Pro153Alafs*28 Frameshift 5/11 - 5
17-7578479-G-T c.451C>A p.Pro151Thr Missense 5/11 - 14
17-7578479-G-A c.451C>T p.Pro151Ser Missense 5/11 - 62
17-7578479-G-C c.451C>G p.Pro151Ala Missense 5/11 - 9
17-7578480-T-C c.450A>G p.Thr150Thr Synonymous 5/11 - 1
17-7578480-T-A c.450A>T p.Thr150Thr Synonymous 5/11 - 1
17-7578480-T-G c.450A>C p.Thr150Thr Synonymous 5/11 - 1
17-7578481-G-A c.449C>T p.Thr150Ile Missense 5/11 - 5
17-7578481-G-C c.449C>G p.Thr150Arg Missense 5/11 - 2
17-7578481-GT-CT c.449delinsG p.Thr150Arg Missense 5/11 - 1
17-7578481-GT-GA c.448delinsT p.Thr150Ser Missense 5/11 - 1
17-7578482-T-C c.448A>G p.Thr150Ala Missense 5/11 - 4
17-7578483-G-GAT c.446_447insAT p.Thr150Serfs*21 Frameshift 5/11 - 2
17-7578484-G-T c.446C>A p.Ser149Tyr Missense 5/11 - 1
17-7578484-G-A c.446C>T p.Ser149Phe Missense 5/11 - 1
17-7578484-G-C c.446C>G p.Ser149Cys Missense 5/11 - 2
17-7578485-A-G c.445T>C p.Ser149Pro Missense 5/11 - 1
17-7578485-A-C c.445T>G p.Ser149Ala Missense 5/11 - 4
17-7578486-ATC-CAA c.442_444delinsTTG p.Asp148Leu Missense 5/11 - 1
17-7578486-ATC-TCA c.442_444delinsTGA p.Asp148* Missense 5/11 - 1
17-7578486-A-AA c.445dup p.Ser149Phefs*32 Frameshift 5/11 - 2
17-7578486-A-C c.444T>G p.Asp148Glu Missense 5/11 - 15
17-7578486-A-T c.444T>A p.Asp148Glu Missense 5/11 - 15
17-7578487-T-G c.443A>C p.Asp148Ala Missense 5/11 - 2
17-7578487-T-C c.443A>G p.Asp148Gly Missense 5/11 - 1
17-7578487-TC-TG c.442delinsC p.Asp148His Missense 5/11 - 1
17-7578488-C-A c.442G>T p.Asp148Tyr Missense 5/11 - 1
17-7578488-C-T c.442G>A p.Asp148Asn Missense 5/11 - 4
17-7578490-A-G c.440T>C p.Val147Ala Missense 5/11 - 2
17-7578490-A-T c.440T>A p.Val147Asp Missense 5/11 - 3
17-7578490-A-C c.440T>G p.Val147Gly Missense 5/11 - 6
17-7578492-CCCACAGCTGCAC-C c.429_440del p.Gln144_Val147del InFrameDeletion 5/11 - 1
17-7578492-CCA-GAC c.436_438delinsGTC p.Trp146Val Missense 5/11 - 1
17-7578492-CC-AT c.437_438delinsAT p.Trp146Tyr Missense 5/11 - 4
17-7578492-C-T c.438G>A p.Trp146* Nonsense 5/11 - 22
17-7578493-C-T c.437G>A p.Trp146* Nonsense 5/11 - 20
17-7578494-A-T c.436T>A p.Trp146Arg Missense 5/11 - 1
17-7578494-A-G c.436T>C p.Trp146Arg Missense 5/11 - 1
17-7578496-A-C c.434T>G p.Leu145Arg Missense 5/11 - 23
17-7578496-A-T c.434T>A p.Leu145Gln Missense 5/11 - 4
17-7578496-A-G c.434T>C p.Leu145Pro Missense 5/11 - 8
17-7578496-CA-C c.434del p.Leu145Argfs*25 Frameshift 5/11 - 1
17-7578496-AG-GC c.433_434delinsGC p.Leu145Ala Missense 5/11 - 2
17-7578498-C-G c.432G>C p.Gln144His Missense 5/11 - 1
17-7578498-C-A c.432G>T p.Gln144His Missense 5/11 - 1
17-7578499-TG-TC c.430delinsG p.Gln144Glu Missense 5/11 - 1
17-7578499-T-A c.431A>T p.Gln144Leu Missense 5/11 - 2
17-7578499-T-G c.431A>C p.Gln144Pro Missense 5/11 - 5
17-7578499-TG-GC c.430_431delinsGC p.Gln144Ala Missense 5/11 - 1
17-7578500-G-A c.430C>T p.Gln144* Nonsense 5/11 - 9
17-7578501-C-T c.429G>A p.Val143Val Synonymous 5/11 - 1
17-7578501-CAC-ATC c.428_429delinsAT p.Val143Asp Missense 5/11 - 1
17-7578502-A-C c.428T>G p.Val143Gly Missense 5/11 - 2
17-7578502-A-G c.428T>C p.Val143Ala Missense 5/11 - 132
17-7578502-A-T c.428T>A p.Val143Glu Missense 5/11 - 1
17-7578503-C-A c.427G>T p.Val143Leu Missense 5/11 - 1
17-7578503-C-T c.427G>A p.Val143Met Missense 5/11 - 14
17-7578505-G-A c.425C>T p.Pro142Leu Missense 5/11 - 3
17-7578505-G-C c.425C>G p.Pro142Arg Missense 5/11 - 3
17-7578506-GGGCAGGTCTTGGCCAGTTGGCAAAACA-G c.398_424del p.Met133_Pro142delinsThr MultiAAMissense 5/11 - 1
17-7578506-G-C c.424C>G p.Pro142Ala Missense 5/11 - 2
17-7578506-G-A c.424C>T p.Pro142Ser Missense 5/11 - 5
17-7578506-G-T c.424C>A p.Pro142Thr Missense 5/11 - 1
17-7578507-G-T c.423C>A p.Cys141* Nonsense 5/11 - 4
17-7578507-G-C c.423C>G p.Cys141Trp Missense 5/11 - 11
17-7578508-C-A c.422G>T p.Cys141Phe Missense 5/11 - 4
17-7578508-C-T c.422G>A p.Cys141Tyr Missense 5/11 - 22
17-7578508-GCAG-G c.421_423del p.Cys141del InFrameDeletion 5/11 - 1
17-7578508-CA-GT c.421_422delinsAC p.Cys141Thr Missense 5/11 - 4
17-7578508-GCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGG-G c.386_427del p.Ala129_Pro142del InFrameDeletion 5/11 - 1
17-7578508-CA-AC c.421_422delinsGT p.Cys141Val Missense 5/11 - 1
17-7578508-C-G c.422G>C p.Cys141Ser Missense 5/11 - 7
17-7578509-A-C c.421T>G p.Cys141Gly Missense 5/11 - 3
17-7578509-A-G c.421T>C p.Cys141Arg Missense 5/11 - 5
17-7578510-GGTCTTGGC-TGCAGGCCTGTCACCGCTTGT c.412_420delinsACAAGCGGTGACAGGCCTGCA p.Ala138_Thr140delinsThrSerGlyAspArgProAla MultiAAMissense 5/11 - 1
17-7578510-GGT-GAG c.418_419delinsCT p.Thr140Leu Missense 5/11 - 1
17-7578511-G-A c.419C>T p.Thr140Ile Missense 5/11 - 2
17-7578511-GG-G c.420del p.Cys141Alafs*29 Frameshift 5/11 - 1
17-7578513-C-T c.417G>A p.Lys139Lys Synonymous 5/11 - 1
17-7578513-C-A c.417G>T p.Lys139Asn Missense 5/11 - 4
17-7578514-T-C c.416A>G p.Lys139Arg Missense 5/11 - 8
17-7578514-TT-GC c.415_416delinsGC p.Lys139Ala Missense 5/11 - 1
17-7578515-T-A c.415A>T p.Lys139* Nonsense 5/11 - 2
17-7578515-T-C c.415A>G p.Lys139Glu Missense 5/11 - 5
17-7578515-T-G c.415A>C p.Lys139Gln Missense 5/11 - 3
17-7578515-TT-T c.416del p.Lys139Argfs*31 Frameshift 5/11 - 2
17-7578516-TGGC-T c.412_414del p.Ala138del InFrameDeletion 5/11 - 1
17-7578517-G-T c.413C>A p.Ala138Asp Missense 5/11 - 1
17-7578517-G-A c.413C>T p.Ala138Val Missense 5/11 - 39
17-7578517-G-C c.413C>G p.Ala138Gly Missense 5/11 - 1
17-7578517-GGCCAGTTGGCAAAACATCTTG-G c.398_418del p.Met133_Lys139del InFrameDeletion 5/11 - 1
17-7578517-GC-TA c.412_413delinsTA p.Ala138Tyr Missense 5/11 - 1
17-7578518-C-A c.412G>T p.Ala138Ser Missense 5/11 - 3
17-7578518-C-G c.412G>C p.Ala138Pro Missense 5/11 - 14
17-7578518-C-T c.412G>A p.Ala138Thr Missense 5/11 - 3
17-7578519-CAG-TTT c.409_411delinsAAA p.Leu137Lys Missense 5/11 - 1
17-7578520-A-T c.410T>A p.Leu137Gln Missense 5/11 - 3
17-7578520-A-G c.410T>C p.Leu137Pro Missense 5/11 - 1
17-7578521-G-T c.409C>A p.Leu137Met Missense 5/11 - 1
17-7578521-G-C c.409C>G p.Leu137Val Missense 5/11 - 1
17-7578522-T-A c.408A>T p.Gln136His Missense 5/11 - 1
17-7578522-T-C c.408A>G p.Gln136Gln Synonymous 5/11 - 2
17-7578522-T-G c.408A>C p.Gln136His Missense 5/11 - 1
17-7578523-T-A c.407A>T p.Gln136Leu Missense 5/11 - 1
17-7578523-T-G c.407A>C p.Gln136Pro Missense 5/11 - 2
17-7578523-TG-GC c.406_407delinsGC p.Gln136Ala Missense 5/11 - 1
17-7578524-G-C c.406C>G p.Gln136Glu Missense 5/11 - 3
17-7578524-G-A c.406C>T p.Gln136* Nonsense 5/11 - 14
17-7578525-G-GG c.406dup p.Gln136Profs*13 Frameshift 5/11 - 6
17-7578525-G-A c.405C>T p.Cys135Cys Synonymous 5/11 - 2
17-7578525-G-C c.405C>G p.Cys135Trp Missense 5/11 - 9
17-7578525-G-T c.405C>A p.Cys135* Nonsense 5/11 - 1
17-7578525-GGCA-G c.403_405del p.Cys135del InFrameDeletion 5/11 - 1
17-7578526-CA-GC c.403_404delinsGC p.Cys135Ala Missense 5/11 - 1
17-7578526-C-A c.404G>T p.Cys135Phe Missense 5/11 - 53
17-7578526-C-CG c.403_404insC p.Cys135Serfs*14 Frameshift 5/11 - 1
17-7578526-CA-GT c.403_404delinsAC p.Cys135Thr Missense 5/11 - 4
17-7578526-C-T c.404G>A p.Cys135Tyr Missense 5/11 - 59
17-7578526-C-G c.404G>C p.Cys135Ser Missense 5/11 - 7
17-7578527-A-G c.403T>C p.Cys135Arg Missense 5/11 - 14
17-7578527-A-C c.403T>G p.Cys135Gly Missense 5/11 - 4
17-7578527-A-T c.403T>A p.Cys135Ser Missense 5/11 - 7
17-7578529-A-C c.401T>G p.Phe134Cys Missense 5/11 - 7
17-7578529-A-G c.401T>C p.Phe134Ser Missense 5/11 - 6
17-7578529-A-T c.401T>A p.Phe134Tyr Missense 5/11 - 2
17-7578529-AA-GC c.400_401delinsGC p.Phe134Ala Missense 5/11 - 1
17-7578530-A-C c.400T>G p.Phe134Val Missense 5/11 - 5
17-7578530-A-G c.400T>C p.Phe134Leu Missense 5/11 - 12
17-7578528-A-C c.402T>G p.Phe134Leu Missense 5/11 - 13
17-7578528-A-T c.402T>A p.Phe134Leu Missense 5/11 - 12
17-7578530-A-AA c.403dup p.Cys135Leufs*14 Frameshift 5/11 - 5
17-7578530-AA-A c.403del p.Cys135Alafs*35 Frameshift 5/11 - 4
17-7578531-C-G c.399G>C p.Met133Ile Missense 5/11 - 2
17-7578531-C-A c.399G>T p.Met133Ile Missense 5/11 - 2
17-7578531-C-T c.399G>A p.Met133Ile Missense 5/11 - 2
17-7578532-A-C c.398T>G p.Met133Arg Missense 5/11 - 1
17-7578532-A-G c.398T>C p.Met133Thr Missense 5/11 - 15
17-7578532-A-T c.398T>A p.Met133Lys Missense 5/11 - 15
17-7578532-CATC-C c.397_399del p.Met133del InFrameDeletion 5/11 - 2
17-7578533-T-A c.397A>T p.Met133Leu Missense 5/11 - 42
17-7578533-T-G c.397A>C p.Met133Leu Missense 5/11 - 42
17-7578534-C-A c.396G>T p.Lys132Asn Missense 5/11 - 26
17-7578534-C-G c.396G>C p.Lys132Asn Missense 5/11 - 26
17-7578534-CTT-GAC c.394_396delinsGTC p.Lys132Val Missense 5/11 - 1
17-7578535-TT-GG c.394_395delinsCC p.Lys132Pro Missense 5/11 - 1
17-7578535-T-C c.395A>G p.Lys132Arg Missense 5/11 - 29
17-7578535-T-G c.395A>C p.Lys132Thr Missense 5/11 - 3
17-7578535-T-A c.395A>T p.Lys132Met Missense 5/11 - 9
17-7578535-TT-CA c.394_395delinsTG p.Lys132Trp Missense 5/11 - 1
17-7578536-T-G c.394A>C p.Lys132Gln Missense 5/11 - 19
17-7578536-TTGTTGAGGGCAGGGGAGTACT-T c.376_396del p.Tyr126_Lys132del InFrameDeletion 5/11 4/10 2
17-7578536-TTGTTGAGGGCAGGGGAGTA-T c.376_394del p.Tyr126Argfs*38 SpliceAcceptorDeletion 5/11 - 1
17-7578536-T-A c.394A>T p.Lys132* Nonsense 5/11 - 4
17-7578536-T-C c.394A>G p.Lys132Glu Missense 5/11 - 15
17-7578537-G-C c.393C>G p.Asn131Lys Missense 5/11 - 2
17-7578537-G-A c.393C>T p.Asn131Asn Synonymous 5/11 - 2
17-7578537-G-T c.393C>A p.Asn131Lys Missense 5/11 - 2
17-7578538-GTTG-G c.393_395del p.Asn131del InFrameDeletion 5/11 - 5
17-7578538-T-A c.392A>T p.Asn131Ile Missense 5/11 - 5
17-7578538-T-C c.392A>G p.Asn131Ser Missense 5/11 - 2
17-7578538-GTTGAGGGCAG-G c.384_393del p.Ala129Argfs*38 Frameshift 5/11 - 1
17-7578539-T-TA c.390_391insT p.Asn131* Nonsense 5/11 - 3
17-7578539-T-A c.391A>T p.Asn131Tyr Missense 5/11 - 8
17-7578539-T-C c.391A>G p.Asn131Asp Missense 5/11 - 1
17-7578541-AG-TG c.389delinsA p.Leu130His Missense 5/11 - 1
17-7578541-A-T c.389T>A p.Leu130His Missense 5/11 - 1
17-7578541-A-G c.389T>C p.Leu130Pro Missense 5/11 - 6
17-7578541-A-C c.389T>G p.Leu130Arg Missense 5/11 - 1
17-7578542-G-T c.388C>A p.Leu130Ile Missense 5/11 - 6
17-7578542-G-C c.388C>G p.Leu130Val Missense 5/11 - 12
17-7578542-G-A c.388C>T p.Leu130Phe Missense 5/11 - 5
17-7578543-G-A c.387C>T p.Ala129Ala Synonymous 5/11 - 1
17-7578544-GC-TG c.385_386delinsCA p.Ala129His Missense 5/11 - 1
17-7578544-G-A c.386C>T p.Ala129Val Missense 5/11 - 2
17-7578544-G-T c.386C>A p.Ala129Asp Missense 5/11 - 1
17-7578545-GCAGG-G c.384_387del p.Ala129Serfs*40 Frameshift 5/11 - 1
17-7578545-C-T c.385G>A p.Ala129Thr Missense 5/11 - 2
17-7578546-A-T c.384T>A p.Pro128Pro Synonymous 5/11 - 1
17-7578547-G-A c.383C>T p.Pro128Leu Missense 5/11 - 2
17-7578548-G-A c.382C>T p.Pro128Ser Missense 5/11 - 3
17-7578549-GGA-GAG c.379_380delinsCT p.Ser127Leu Missense 5/11 - 2
17-7578550-G-C c.380C>G p.Ser127Cys Missense 5/11 - 1
17-7578550-G-A c.380C>T p.Ser127Phe Missense 5/11 - 35
17-7578550-G-T c.380C>A p.Ser127Tyr Missense 5/11 - 8
17-7578551-A-C c.379T>G p.Ser127Ala Missense 5/11 - 21
17-7578551-A-G c.379T>C p.Ser127Pro Missense 5/11 - 5
17-7578551-A-T c.379T>A p.Ser127Thr Missense 5/11 - 3
17-7578552-GTA-AAG c.376_378delinsCTT p.Tyr126Leu Missense 5/11 - 1
17-7578552-G-A c.378C>T p.Tyr126Tyr Synonymous 5/11 - 1
17-7578552-G-C c.378C>G p.Tyr126* Nonsense 5/11 - 4
17-7578553-TA-GC c.376_377delinsGC p.Tyr126Ala Missense 5/11 - 1
17-7578553-TA-AC c.376_377delinsGT p.Tyr126Val Missense 5/11 - 1
17-7578553-T-C c.377A>G p.Tyr126Cys Missense 5/11 - 23
17-7578553-T-A c.377A>T p.Tyr126Phe Missense 5/11 - 3
17-7578553-T-G c.377A>C p.Tyr126Ser Missense 5/11 - 2
17-7578553-TA-CC c.376_377delinsGG p.Tyr126Gly Missense 5/11 - 1
17-7578554-TA-T c.376del p.Tyr126Thrfs*44 Frameshift 5/11 - 1
17-7578554-A-T c.376T>A p.Tyr126Asn Missense 5/11 - 5
17-7578554-A-G c.376T>C p.Tyr126His Missense 5/11 - 4
17-7578554-A-C c.376T>G p.Tyr126Asp Missense 5/11 - 8
17-7578555-C-T c.376-1G>A - IntronicSNV - 4/10 8
17-7578555-C-A c.376-1G>T - IntronicSNV - 4/10 1
17-7578556-CT-C c.376-2del - IntronicDeletion - 4/10 1
17-7578556-T-C c.376-2A>G - IntronicSNV - 4/10 8
17-7578556-T-A c.376-2A>T - IntronicSNV - 4/10 1
17-7578557-G-A c.376-3C>T - IntronicSNV - 4/10 1
17-7578567-G-A c.376-13C>T - IntronicSNV - 4/10 1
17-7578621-G-C c.376-67C>G - IntronicSNV - 4/10 1
17-7578640-A-G c.376-86T>C - IntronicSNV - 4/10 1
17-7578645-C-T c.376-91G>A - IntronicSNV - 4/10 26
17-7578645-C-G c.376-91G>C - IntronicSNV - 4/10 24
17-7578671-C-T c.376-117G>A - IntronicSNV - 4/10 16
17-7578679-A-G c.376-125T>C - IntronicSNV - 4/10 10
17-7578708-T-C c.376-154A>G - IntronicSNV - 4/10 1
17-7578837-A-G c.376-283T>C - IntronicSNV - 4/10 3
17-7579211-A-G c.375+101T>C - IntronicSNV - 4/10 1
17-7579211-A-T c.375+101T>A - IntronicSNV - 4/10 1
17-7579275-G-T c.375+37C>A - IntronicSNV - 4/10 1
17-7579307-C-T c.375+5G>A - IntronicSNV - 4/10 2
17-7579310-A-G c.375+2T>C - IntronicSNV - 4/10 1
17-7579310-A-C c.375+2T>G - IntronicSNV - 4/10 2
17-7579310-A-T c.375+2T>A - IntronicSNV - 4/10 2
17-7579311-C-A c.375+1G>T - IntronicSNV - 4/10 3
17-7579311-C-T c.375+1G>A - IntronicSNV - 4/10 3
17-7579312-CGT-GAC c.373_375delinsGTC p.Thr125Val Missense 4/11 - 1
17-7579312-C-A c.375G>T p.Thr125Thr Synonymous 4/11 - 22
17-7579312-C-G c.375G>C p.Thr125Thr Synonymous 4/11 - 19
17-7579312-C-T c.375G>A p.Thr125Thr Synonymous 4/11 - 26
17-7579313-G-A c.374C>T p.Thr125Met Missense 4/11 - 17
17-7579313-G-C c.374C>G p.Thr125Arg Missense 4/11 - 13
17-7579313-G-T c.374C>A p.Thr125Lys Missense 4/11 - 1
17-7579313-GT-GA c.373delinsT p.Thr125Ser Missense 4/11 - 1
17-7579314-T-C c.373A>G p.Thr125Ala Missense 4/11 - 6
17-7579314-T-G c.373A>C p.Thr125Pro Missense 4/11 - 1
17-7579315-G-GG c.372dup p.Thr125Hisfs*24 Frameshift 4/11 - 1
17-7579315-G-T c.372C>A p.Cys124* Nonsense 4/11 - 3
17-7579315-G-A c.372C>T p.Cys124Cys Synonymous 4/11 - 1
17-7579316-CA-GC c.370_371delinsGC p.Cys124Ala Missense 4/11 - 13
17-7579316-CA-GA c.371delinsC p.Cys124Ser Missense 4/11 - 1
17-7579317-A-C c.370T>G p.Cys124Gly Missense 4/11 - 2
17-7579317-A-G c.370T>C p.Cys124Arg Missense 4/11 - 6
17-7579316-C-G c.371G>C p.Cys124Ser Missense 4/11 - 11
17-7579317-A-T c.370T>A p.Cys124Ser Missense 4/11 - 11
17-7579318-AAG-A c.368_369del p.Thr123Metfs*25 Frameshift 4/11 - 1
17-7579318-AG-TG c.369delinsA p.Thr123Thr Missense 4/11 - 1
17-7579319-GT-TG c.367_368delinsCA p.Thr123His Missense 4/11 - 1
17-7579319-GT-GA c.367delinsT p.Thr123Ser Missense 4/11 - 1
17-7579320-T-C c.367A>G p.Thr123Ala Missense 4/11 - 14
17-7579320-T-G c.367A>C p.Thr123Pro Missense 4/11 - 4
17-7579322-A-C c.365T>G p.Val122Gly Missense 4/11 - 1
17-7579322-A-G c.365T>C p.Val122Ala Missense 4/11 - 6
17-7579322-A-AA c.365dup p.Thr123Aspfs*26 Frameshift 4/11 - 1
17-7579322-AC-TA c.364_365delinsTA p.Val122* Nonsense 4/11 - 3
17-7579323-ACA-A c.365_366del p.Val122Aspfs*26 Frameshift 4/11 - 1
17-7579323-C-A c.364G>T p.Val122Leu Missense 4/11 - 1
17-7579323-C-G c.364G>C p.Val122Leu Missense 4/11 - 1
17-7579323-C-T c.364G>A p.Val122Met Missense 4/11 - 1
17-7579324-AG-AA c.362delinsT p.Ser121Phe Nonsense 4/11 - 1
17-7579325-G-C c.362C>G p.Ser121Cys Missense 4/11 - 1
17-7579325-G-A c.362C>T p.Ser121Phe Missense 4/11 - 16
17-7579326-A-T c.361T>A p.Ser121Thr Missense 4/11 - 1
17-7579327-CTT-TGT c.359_360delinsCA p.Lys120Thr Missense 4/11 - 1
17-7579327-C-A c.360G>T p.Lys120Asn Missense 4/11 - 2
17-7579327-C-G c.360G>C p.Lys120Asn Missense 4/11 - 2
17-7579328-T-A c.359A>T p.Lys120Met Missense 4/11 - 6
17-7579328-T-C c.359A>G p.Lys120Arg Missense 4/11 - 61
17-7579328-TT-GC c.358_359delinsGC p.Lys120Ala Missense 4/11 - 9
17-7579329-T-TA c.357_358insT p.Lys120* Nonsense 4/11 - 1
17-7579329-T-A c.358A>T p.Lys120* Nonsense 4/11 - 1
17-7579329-T-G c.358A>C p.Lys120Gln Missense 4/11 - 4
17-7579329-T-C c.358A>G p.Lys120Glu Missense 4/11 - 11
17-7579331-G-T c.356C>A p.Ala119Asp Missense 4/11 - 1
17-7579332-C-T c.355G>A p.Ala119Thr Missense 4/11 - 2
17-7579333-T-A c.354A>T p.Thr118Thr Synonymous 4/11 - 1
17-7579333-TG-AC c.353_354delinsGT p.Thr118Ser Missense 4/11 - 1
17-7579334-G-A c.353C>T p.Thr118Ile Missense 4/11 - 2
17-7579335-T-C c.352A>G p.Thr118Ala Missense 4/11 - 2
17-7579336-CCC-TGT c.349_351delinsACA p.Gly117Thr Missense 4/11 - 1
17-7579337-C-A c.350G>T p.Gly117Val Missense 4/11 - 2
17-7579338-C-A c.349G>T p.Gly117Trp Missense 4/11 - 1
17-7579338-C-T c.349G>A p.Gly117Arg Missense 4/11 - 3
17-7579339-A-G c.348T>C p.Ser116Ser Synonymous 4/11 - 1
17-7579340-G-C c.347C>G p.Ser116Cys Missense 4/11 - 2
17-7579340-G-A c.347C>T p.Ser116Phe Missense 4/11 - 1
17-7579341-A-C c.346T>G p.Ser116Ala Missense 4/11 - 2
17-7579342-ATG-GAG c.344_345delinsTC p.His115Leu Missense 4/11 - 1
17-7579343-TG-GC c.343_344delinsGC p.His115Ala Missense 4/11 - 1
17-7579343-T-C c.344A>G p.His115Arg Missense 4/11 - 1
17-7579344-G-A c.343C>T p.His115Tyr Missense 4/11 - 3
17-7579344-G-T c.343C>A p.His115Asn Missense 4/11 - 6
17-7579346-AA-AG c.340delinsC p.Leu114Leu Missense 4/11 - 1
17-7579346-A-T c.341T>A p.Leu114* Nonsense 4/11 - 2
17-7579348-G-T c.339C>A p.Phe113Leu Missense 4/11 - 3
17-7579349-AA-GC c.337_338delinsGC p.Phe113Ala Missense 4/11 - 3
17-7579349-GAAG-G c.339_341del p.Phe113del InFrameDeletion 4/11 - 2
17-7579349-A-C c.338T>G p.Phe113Cys Missense 4/11 - 9
17-7579349-A-G c.338T>C p.Phe113Ser Missense 4/11 - 1
17-7579350-A-C c.337T>G p.Phe113Val Missense 4/11 - 8
17-7579351-AGCC-A c.334_336del p.Gly112del InFrameDeletion 4/11 - 1
17-7579352-C-T c.335G>A p.Gly112Asp Missense 4/11 - 4
17-7579352-C-A c.335G>T p.Gly112Val Missense 4/11 - 1
17-7579353-C-T c.334G>A p.Gly112Ser Missense 4/11 - 3
17-7579354-CAG-TTGGAT c.331_333delinsATCCAA p.Leu111delinsIleGln MultiAAMissense 4/11 - 1
17-7579355-AG-AA c.331delinsT p.Leu111Leu Missense 4/11 - 1
17-7579355-A-G c.332T>C p.Leu111Pro Missense 4/11 - 5
17-7579355-A-C c.332T>G p.Leu111Arg Missense 4/11 - 5
17-7579355-A-T c.332T>A p.Leu111Gln Missense 4/11 - 5
17-7579356-G-C c.331C>G p.Leu111Val Missense 4/11 - 1
17-7579357-GACGGAAACCGTAGCTGCCCTGGTA-G c.307_330del p.Tyr103_Arg110del InFrameDeletion 4/11 - 1
17-7579358-C-T c.329G>A p.Arg110His Missense 4/11 - 8
17-7579358-C-G c.329G>C p.Arg110Pro Missense 4/11 - 31
17-7579358-C-A c.329G>T p.Arg110Leu Missense 4/11 - 35
17-7579359-CGG-C c.327_328del p.Phe109Leufs*39 Frameshift 4/11 - 1
17-7579359-CGGAAAC-C c.325_330del p.Phe109_Arg110del InFrameDeletion 4/11 - 1
17-7579359-G-GACGGAAACCGT c.327_328insACGGTTTCCGT p.Arg110Thrfs*17 Frameshift 4/11 - 1
17-7579359-G-A c.328C>T p.Arg110Cys Missense 4/11 - 14
17-7579361-GAAACCG-G c.322_327del p.Gly108_Phe109del InFrameDeletion 4/11 - 1
17-7579361-A-C c.326T>G p.Phe109Cys Missense 4/11 - 1
17-7579361-A-G c.326T>C p.Phe109Ser Missense 4/11 - 3
17-7579360-G-C c.327C>G p.Phe109Leu Missense 4/11 - 1
17-7579362-A-G c.325T>C p.Phe109Leu Missense 4/11 - 1
17-7579362-A-C c.325T>G p.Phe109Val Missense 4/11 - 3
17-7579360-G-T c.327C>A p.Phe109Leu Missense 4/11 - 1
17-7579363-AACCGTAGCTGCC-A c.313_324del p.Gly105_Gly108del InFrameDeletion 4/11 - 1
17-7579363-AACC-A c.322_324del p.Gly108del InFrameDeletion 4/11 - 1
17-7579364-C-G c.323G>C p.Gly108Ala Missense 4/11 - 1
17-7579364-C-A c.323G>T p.Gly108Val Missense 4/11 - 1
17-7579365-C-T c.322G>A p.Gly108Ser Missense 4/11 - 4
17-7579365-C-G c.322G>C p.Gly108Arg Missense 4/11 - 1
17-7579365-C-A c.322G>T p.Gly108Cys Missense 4/11 - 1
17-7579366-G-C c.321C>G p.Tyr107* Nonsense 4/11 - 10
17-7579366-GTA-TTG c.319_321delinsCAA p.Tyr107Gln Missense 4/11 - 1
17-7579367-TA-GC c.319_320delinsGC p.Tyr107Ala Missense 4/11 - 2
17-7579367-TA-GG c.319_320delinsCC p.Tyr107Pro Missense 4/11 - 1
17-7579367-TA-CC c.319_320delinsGG p.Tyr107Gly Missense 4/11 - 1
17-7579367-T-C c.320A>G p.Tyr107Cys Missense 4/11 - 1
17-7579367-T-G c.320A>C p.Tyr107Ser Missense 4/11 - 1
17-7579368-A-T c.319T>A p.Tyr107Asn Missense 4/11 - 2
17-7579368-A-G c.319T>C p.Tyr107His Missense 4/11 - 4
17-7579368-A-C c.319T>G p.Tyr107Asp Missense 4/11 - 2
17-7579369-G-C c.318C>G p.Ser106Arg Missense 4/11 - 5
17-7579369-GCT-GAG c.316_317delinsCT p.Ser106Leu Missense 4/11 - 1
17-7579370-C-A c.317G>T p.Ser106Ile Missense 4/11 - 1
17-7579370-GCTGCCCTG-G c.311_318del p.Gln104Leufs*42 Frameshift 4/11 - 1
17-7579370-CT-GC c.316_317delinsGC p.Ser106Ala Missense 4/11 - 2
17-7579372-G-A c.315C>T p.Gly105Gly Synonymous 4/11 - 2
17-7579373-C-G c.314G>C p.Gly105Ala Missense 4/11 - 1
17-7579373-C-T c.314G>A p.Gly105Asp Missense 4/11 - 4
17-7579373-C-A c.314G>T p.Gly105Val Missense 4/11 - 2
17-7579374-C-A c.313G>T p.Gly105Cys Missense 4/11 - 7
17-7579374-C-T c.313G>A p.Gly105Ser Missense 4/11 - 3
17-7579374-C-G c.313G>C p.Gly105Arg Missense 4/11 - 2
17-7579375-C-T c.312G>A p.Gln104Gln Synonymous 4/11 - 1
17-7579376-T-A c.311A>T p.Gln104Leu Missense 4/11 - 5
17-7579377-G-C c.310C>G p.Gln104Glu Missense 4/11 - 1
17-7579377-G-A c.310C>T p.Gln104* Nonsense 4/11 - 10
17-7579378-G-T c.309C>A p.Tyr103* Nonsense 4/11 - 4
17-7579379-TA-GC c.307_308delinsGC p.Tyr103Ala Missense 4/11 - 2
17-7579379-TA-GG c.307_308delinsCC p.Tyr103Pro Missense 4/11 - 1
17-7579379-GT-G c.308del p.Tyr103Serfs*20 Frameshift 4/11 - 1
17-7579379-T-A c.308A>T p.Tyr103Phe Missense 4/11 - 2
17-7579380-A-T c.307T>A p.Tyr103Asn Missense 4/11 - 1
17-7579380-TAGGT-T c.307_310del p.Tyr103Argfs*19 Frameshift 4/11 - 1
17-7579381-AGGT-A c.304_306del p.Thr102del InFrameDeletion 4/11 - 1
17-7579382-G-A c.305C>T p.Thr102Ile Missense 4/11 - 2
17-7579383-T-G c.304A>C p.Thr102Pro Missense 4/11 - 1
17-7579383-GTTTTCTGG-G c.299_306del p.Gln100Leufs*46 Frameshift 4/11 - 1
17-7579384-T-A c.303A>T p.Lys101Asn Missense 4/11 - 1
17-7579384-T-G c.303A>C p.Lys101Asn Missense 4/11 - 1
17-7579385-TT-GC c.301_302delinsGC p.Lys101Ala Missense 4/11 - 2
17-7579385-T-C c.302A>G p.Lys101Arg Missense 4/11 - 5
17-7579386-T-A c.301A>T p.Lys101* Nonsense 4/11 - 1
17-7579386-T-C c.301A>G p.Lys101Glu Missense 4/11 - 1
17-7579387-C-A c.300G>T p.Gln100His Missense 4/11 - 1
17-7579388-T-C c.299A>G p.Gln100Arg Missense 4/11 - 1
17-7579389-G-A c.298C>T p.Gln100* Nonsense 4/11 - 5
17-7579389-G-T c.298C>A p.Gln100Lys Missense 4/11 - 1
17-7579391-G-A c.296C>T p.Ser99Phe Missense 4/11 - 2
17-7579392-A-C c.295T>G p.Ser99Ala Missense 4/11 - 3
17-7579393-A-AT c.293_294insA p.Ser99Phefs*50 Frameshift 4/11 - 1
17-7579394-G-A c.293C>T p.Pro98Leu Missense 4/11 - 6
17-7579394-G-T c.293C>A p.Pro98His Missense 4/11 - 2
17-7579395-G-A c.292C>T p.Pro98Ser Missense 4/11 - 6
17-7579396-G-A c.291C>T p.Val97Val Synonymous 4/11 - 1
17-7579396-GG-G c.293del p.Pro98Leufs*25 Frameshift 4/11 - 1
17-7579397-AC-TG c.289_290delinsCA p.Val97His Missense 4/11 - 1
17-7579397-A-C c.290T>G p.Val97Gly Missense 4/11 - 1
17-7579397-A-G c.290T>C p.Val97Ala Missense 4/11 - 1
17-7579398-C-T c.289G>A p.Val97Ile Missense 4/11 - 1
17-7579399-A-AA c.288dup p.Val97Cysfs*52 Frameshift 4/11 - 1
17-7579400-G-C c.287C>G p.Ser96Cys Missense 4/11 - 3
17-7579400-G-A c.287C>T p.Ser96Phe Missense 4/11 - 1
17-7579401-A-C c.286T>G p.Ser96Ala Missense 4/11 - 2
17-7579401-A-G c.286T>C p.Ser96Pro Missense 4/11 - 1
17-7579403-G-T c.284C>A p.Ser95Tyr Missense 4/11 - 1
17-7579403-G-A c.284C>T p.Ser95Phe Missense 4/11 - 2
17-7579403-G-C c.284C>G p.Ser95Cys Missense 4/11 - 1
17-7579403-GA-GG c.283delinsC p.Ser95Pro Missense 4/11 - 1
17-7579404-A-C c.283T>G p.Ser95Ala Missense 4/11 - 1
17-7579404-A-ACAGGGGC c.282_283insGCCCCTG p.Ser95Alafs*56 Frameshift 4/11 - 1
17-7579404-A-G c.283T>C p.Ser95Pro Missense 4/11 - 2
17-7579406-G-C c.281C>G p.Ser94* Nonsense 4/11 - 6
17-7579406-G-T c.281C>A p.Ser94* Nonsense 4/11 - 6
17-7579407-A-C c.280T>G p.Ser94Ala Missense 4/11 - 7
17-7579408-CAG-TGT c.277_279delinsACA p.Leu93Thr Missense 4/11 - 1
17-7579408-CAG-TTT c.277_279delinsAAA p.Leu93Lys Missense 4/11 - 1
17-7579409-A-G c.278T>C p.Leu93Pro Missense 4/11 - 1
17-7579409-A-AAGGGGCCAGG c.277_278insCCTGGCCCCT p.Leu93Profs*59 Frameshift 4/11 - 1
17-7579409-AG-TA c.277_278delinsTA p.Leu93* Nonsense 4/11 - 1
17-7579409-AG-GC c.277_278delinsGC p.Leu93Ala Missense 4/11 - 3
17-7579410-G-A c.277C>T p.Leu93Leu Synonymous 4/11 - 1
17-7579411-G-T c.276C>A p.Pro92Pro Synonymous 4/11 - 1
17-7579411-G-A c.276C>T p.Pro92Pro Synonymous 4/11 - 2
17-7579412-G-T c.275C>A p.Pro92His Missense 4/11 - 1
17-7579412-G-A c.275C>T p.Pro92Leu Missense 4/11 - 1
17-7579412-GG-TG c.275delinsA p.Pro92His Missense 4/11 - 1
17-7579413-G-A c.274C>T p.Pro92Ser Missense 4/11 - 2
17-7579413-G-C c.274C>G p.Pro92Ala Missense 4/11 - 2
17-7579414-C-T c.273G>A p.Trp91* Nonsense 4/11 - 22
17-7579415-CA-GC c.271_272delinsGC p.Trp91Ala Missense 4/11 - 3
17-7579416-A-G c.271T>C p.Trp91Arg Missense 4/11 - 1
17-7579416-CAGGAGGGGGCTGGTGCAGGGGCC-C c.257_279del p.Ala86Valfs*55 Frameshift 4/11 - 1
17-7579417-AGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGC-A c.226_270del p.Ala76_Ser90del InFrameDeletion 4/11 - 1
17-7579417-GGA-AAG c.268_270delinsCTT p.Ser90Leu Missense 4/11 - 1
17-7579418-G-T c.269C>A p.Ser90Tyr Missense 4/11 - 1
17-7579418-G-A c.269C>T p.Ser90Phe Missense 4/11 - 3
17-7579419-A-T c.268T>A p.Ser90Thr Missense 4/11 - 1
17-7579419-A-G c.268T>C p.Ser90Pro Missense 4/11 - 1
17-7579419-A-C c.268T>G p.Ser90Ala Missense 4/11 - 5
17-7579420-G-A c.267C>T p.Pro89Pro Synonymous 4/11 - 3
17-7579421-G-A c.266C>T p.Pro89Leu Missense 4/11 - 1
17-7579422-G-A c.265C>T p.Pro89Ser Missense 4/11 - 2
17-7579423-G-T c.264C>A p.Ala88Ala Synonymous 4/11 - 1
17-7579423-G-C c.264C>G p.Ala88Ala Synonymous 4/11 - 1
17-7579423-G-A c.264C>T p.Ala88Ala Synonymous 4/11 - 1
17-7579424-G-A c.263C>T p.Ala88Val Missense 4/11 - 1
17-7579424-G-T c.263C>A p.Ala88Asp Missense 4/11 - 1
17-7579424-GG-G c.267del p.Ser90Profs*33 Frameshift 4/11 - 2
17-7579424-GC-TG c.262_263delinsCA p.Ala88His Missense 4/11 - 2
17-7579424-GC-TT c.262_263delinsAA p.Ala88Asn Missense 4/11 - 3
17-7579424-G-C c.263C>G p.Ala88Gly Missense 4/11 - 1
17-7579425-C-A c.262G>T p.Ala88Ser Missense 4/11 - 1
17-7579425-C-T c.262G>A p.Ala88Thr Missense 4/11 - 1
17-7579427-G-A c.260C>T p.Pro87Leu Missense 4/11 - 2
17-7579428-G-A c.259C>T p.Pro87Ser Missense 4/11 - 2
17-7579429-T-C c.258A>G p.Ala86Ala Synonymous 4/11 - 1
17-7579429-T-G c.258A>C p.Ala86Ala Synonymous 4/11 - 1
17-7579429-T-A c.258A>T p.Ala86Ala Synonymous 4/11 - 1
17-7579430-G-A c.257C>T p.Ala86Val Missense 4/11 - 2
17-7579430-GC-CT c.256_257delinsAG p.Ala86Arg Missense 4/11 - 1
17-7579430-TG-T c.257del p.Ala86Aspfs*37 Frameshift 4/11 - 1
17-7579430-G-T c.257C>A p.Ala86Glu Missense 4/11 - 1
17-7579431-C-T c.256G>A p.Ala86Thr Missense 4/11 - 1
17-7579433-G-A c.254C>T p.Pro85Leu Missense 4/11 - 3
17-7579433-G-C c.254C>G p.Pro85Arg Missense 4/11 - 1
17-7579433-G-T c.254C>A p.Pro85His Missense 4/11 - 2
17-7579434-G-T c.253C>A p.Pro85Thr Missense 4/11 - 1
17-7579434-G-C c.253C>G p.Pro85Ala Missense 4/11 - 33
17-7579434-G-A c.253C>T p.Pro85Ser Missense 4/11 - 9
17-7579435-G-A c.252C>T p.Ala84Ala Synonymous 4/11 - 1
17-7579436-G-A c.251C>T p.Ala84Val Missense 4/11 - 1
17-7579436-G-T c.251C>A p.Ala84Asp Missense 4/11 - 2
17-7579436-GC-TT c.250_251delinsAA p.Ala84Asn Missense 4/11 - 1
17-7579438-CGC-TTT c.247_249delinsAAA p.Ala83Lys Missense 4/11 - 1
17-7579438-CG-AC c.248_249delinsGT p.Ala83Gly Missense 4/11 - 2
17-7579438-CGC-TGT c.247_249delinsACA p.Ala83Thr Missense 4/11 - 1
17-7579439-G-A c.248C>T p.Ala83Val Missense 4/11 - 5
17-7579441-C-T c.246G>A p.Pro82Pro Synonymous 4/11 - 1
17-7579441-CGG-ATC c.244_246delinsGAT p.Pro82Asp Missense 4/11 - 2
17-7579441-CG-AT c.245_246delinsAT p.Pro82His Missense 4/11 - 1
17-7579441-CCGG-C c.244_246del p.Pro82del InFrameDeletion 4/11 - 1
17-7579442-G-A c.245C>T p.Pro82Leu Missense 4/11 - 10
17-7579444-T-TT c.243dup p.Pro82Thrfs*67 Frameshift 4/11 - 1
17-7579445-G-A c.242C>T p.Thr81Ile Missense 4/11 - 2
17-7579445-GT-GA c.241delinsT p.Thr81Ser Missense 4/11 - 1
17-7579446-T-C c.241A>G p.Thr81Ala Missense 4/11 - 8
17-7579448-G-C c.239C>G p.Pro80Arg Missense 4/11 - 2
17-7579448-G-A c.239C>T p.Pro80Leu Missense 4/11 - 3
17-7579449-G-A c.238C>T p.Pro80Ser Missense 4/11 - 4
17-7579450-A-G c.237T>C p.Ala79Ala Synonymous 4/11 - 1
17-7579450-A-C c.237T>G p.Ala79Ala Synonymous 4/11 - 1
17-7579450-A-T c.237T>A p.Ala79Ala Synonymous 4/11 - 1
17-7579451-GC-TT c.235_236delinsAA p.Ala79Asn Missense 4/11 - 1
17-7579451-G-T c.236C>A p.Ala79Asp Missense 4/11 - 1
17-7579451-AGCTGCTGGTGCAGGGG-A c.221_236del p.Ala74Valfs*44 Frameshift 4/11 - 1
17-7579453-T-C c.234A>G p.Ala78Ala Synonymous 4/11 - 1
17-7579453-TGC-TTT c.232_233delinsAA p.Ala78Lys Missense 4/11 - 1
17-7579453-T-TA c.233_234insT p.Ala79Serfs*70 Frameshift 4/11 - 1
17-7579454-G-A c.233C>T p.Ala78Val Missense 4/11 - 1
17-7579454-GC-AG c.232_233delinsCT p.Ala78Leu Missense 4/11 - 1
17-7579455-C-G c.232G>C p.Ala78Pro Missense 4/11 - 1
17-7579455-C-A c.232G>T p.Ala78Ser Missense 4/11 - 1
17-7579455-C-T c.232G>A p.Ala78Thr Missense 4/11 - 2
17-7579457-G-T c.230C>A p.Pro77Gln Missense 4/11 - 1
17-7579458-G-A c.229C>T p.Pro77Ser Missense 4/11 - 1
17-7579459-T-C c.228A>G p.Ala76Ala Synonymous 4/11 - 1
17-7579459-TGC-TGT c.226delinsA p.Ala76Thr Missense 4/11 - 2
17-7579459-GTGCAGGG-G c.224_230del p.Pro75Glnfs*46 Frameshift 4/11 - 1
17-7579459-T-A c.228A>T p.Ala76Ala Synonymous 4/11 - 1
17-7579459-T-G c.228A>C p.Ala76Ala Synonymous 4/11 - 1
17-7579460-G-A c.227C>T p.Ala76Val Missense 4/11 - 1
17-7579460-G-C c.227C>G p.Ala76Gly Missense 4/11 - 2
17-7579461-C-T c.226G>A p.Ala76Thr Missense 4/11 - 2
17-7579462-CAGGGGCCACGG-C c.215_225del p.Pro72Argfs*73 Frameshift 4/11 - 1
17-7579463-G-A c.224C>T p.Pro75Leu Missense 4/11 - 2
17-7579464-G-A c.223C>T p.Pro75Ser Missense 4/11 - 2
17-7579465-G-A c.222C>T p.Ala74Ala Synonymous 4/11 - 1
17-7579465-G-T c.222C>A p.Ala74Ala Synonymous 4/11 - 1
17-7579465-G-C c.222C>G p.Ala74Ala Synonymous 4/11 - 1
17-7579466-GC-AA c.220_221delinsTT p.Ala74Phe Missense 4/11 - 1
17-7579467-C-G c.220G>C p.Ala74Pro Missense 4/11 - 2
17-7579467-C-A c.220G>T p.Ala74Ser Missense 4/11 - 2
17-7579469-A-C c.218T>G p.Val73Gly Missense 4/11 - 1
17-7579469-AC-AG c.217delinsC p.Val73Leu Missense 4/11 - 1
17-7579469-AC-TG c.217_218delinsCA p.Val73Gln Missense 4/11 - 1
17-7579470-ACGGGGGGAGCAGCCTCTGGCATTCTG-A c.192_217del p.Arg65Glyfs*75 Frameshift 4/11 - 1
17-7579470-C-T c.217G>A p.Val73Met Missense 4/11 - 4
17-7579471-G-A c.216C>T p.Pro72Pro Synonymous 4/11 - 16
17-7579471-G-T c.216C>A p.Pro72Pro Synonymous 4/11 - 16
17-7579471-G-C c.216C>G p.Pro72Pro Synonymous 4/11 - 16
17-7579472-G-T c.215C>A p.Pro72His Missense 4/11 - 357
17-7579472-G-C c.215C>G p.Pro72Arg Missense 4/11 - 636
17-7579473-G-A c.214C>T p.Pro72Ser Missense 4/11 - 2
17-7579473-G-C c.214C>G p.Pro72Ala Missense 4/11 - 14
17-7579474-G-T c.213C>A p.Pro71Pro Synonymous 4/11 - 1
17-7579474-G-C c.213C>G p.Pro71Pro Synonymous 4/11 - 2
17-7579475-G-A c.212C>T p.Pro71Leu Missense 4/11 - 2
17-7579475-G-C c.212C>G p.Pro71Arg Missense 4/11 - 1
17-7579476-G-GG c.216dup p.Val73Argfs*76 Frameshift 4/11 - 5
17-7579476-G-A c.211C>T p.Pro71Ser Missense 4/11 - 1
17-7579476-GG-G c.216del p.Val73Trpfs*50 Frameshift 4/11 - 2
17-7579477-A-AC c.209_210insG p.Pro71Serfs*78 Frameshift 4/11 - 1
17-7579477-GA-G c.210del p.Val73Trpfs*50 Frameshift 4/11 - 1
17-7579478-GC-AT c.208_209delinsAT p.Ala70Ile Missense 4/11 - 1
17-7579478-GC-TT c.208_209delinsAA p.Ala70Asn Missense 4/11 - 3
17-7579478-G-T c.209C>A p.Ala70Asp Missense 4/11 - 1
17-7579478-G-C c.209C>G p.Ala70Gly Missense 4/11 - 1
17-7579478-G-A c.209C>T p.Ala70Val Missense 4/11 - 1
17-7579478-GC-TG c.208_209delinsCA p.Ala70His Missense 4/11 - 2
17-7579481-G-T c.206C>A p.Ala69Asp Missense 4/11 - 4
17-7579481-GC-TG c.205_206delinsCA p.Ala69His Missense 4/11 - 2
17-7579481-G-A c.206C>T p.Ala69Val Missense 4/11 - 2
17-7579483-C-G c.204G>C p.Glu68Asp Missense 4/11 - 1
17-7579483-C-T c.204G>A p.Glu68Glu Synonymous 4/11 - 1
17-7579483-CTC-TTT c.202_204delinsAAA p.Glu68Lys Missense 4/11 - 1
17-7579484-T-G c.203A>C p.Glu68Ala Missense 4/11 - 4
17-7579484-T-TA c.202_203insT p.Glu68Valfs*81 Frameshift 4/11 - 1
17-7579485-C-A c.202G>T p.Glu68* Nonsense 4/11 - 3
17-7579485-C-T c.202G>A p.Glu68Lys Missense 4/11 - 1
17-7579487-G-C c.200C>G p.Pro67Arg Missense 4/11 - 1
17-7579492-TCT-CAT c.194_195delinsTG p.Arg65Met Missense 4/11 - 1
17-7579493-CT-GC c.193_194delinsGC p.Arg65Ala Missense 4/11 - 2
17-7579493-C-T c.194G>A p.Arg65Lys Missense 4/11 - 1
17-7579494-T-A c.193A>T p.Arg65* Nonsense 4/11 - 6
17-7579495-GGG-AAG c.191_192delinsTT p.Pro64Leu Missense 4/11 - 1
17-7579495-G-A c.192C>T p.Pro64Pro Synonymous 4/11 - 1
17-7579496-G-T c.191C>A p.Pro64His Missense 4/11 - 1
17-7579496-G-A c.191C>T p.Pro64Leu Missense 4/11 - 3
17-7579497-G-GC c.189_190insG p.Pro64Alafs*85 Frameshift 4/11 - 1
17-7579497-G-A c.190C>T p.Pro64Ser Missense 4/11 - 1
17-7579497-G-C c.190C>G p.Pro64Ala Missense 4/11 - 2
17-7579498-A-G c.189T>C p.Ala63Ala Synonymous 4/11 - 2
17-7579498-A-T c.189T>A p.Ala63Ala Synonymous 4/11 - 2
17-7579498-A-C c.189T>G p.Ala63Ala Synonymous 4/11 - 2
17-7579499-G-A c.188C>T p.Ala63Val Missense 4/11 - 2
17-7579499-G-C c.188C>G p.Ala63Gly Missense 4/11 - 1
17-7579499-G-T c.188C>A p.Ala63Asp Missense 4/11 - 4
17-7579499-GC-TG c.187_188delinsCA p.Ala63His Missense 4/11 - 1
17-7579499-GC-TT c.187_188delinsAA p.Ala63Asn Missense 4/11 - 1
17-7579500-C-G c.187G>C p.Ala63Pro Missense 4/11 - 1
17-7579501-CTTC-C c.185_187del p.Glu62del InFrameDeletion 4/11 - 1
17-7579501-T-C c.186A>G p.Glu62Glu Synonymous 4/11 - 1
17-7579501-TTC-AAC c.185_186delinsTT p.Glu62Val Missense 4/11 - 1
17-7579502-T-C c.185A>G p.Glu62Gly Missense 4/11 - 1
17-7579503-C-A c.184G>T p.Glu62* Nonsense 4/11 - 5
17-7579504-A-C c.183T>G p.Asp61Glu Missense 4/11 - 2
17-7579504-A-T c.183T>A p.Asp61Glu Missense 4/11 - 2
17-7579505-T-G c.182A>C p.Asp61Ala Missense 4/11 - 1
17-7579505-T-C c.182A>G p.Asp61Gly Missense 4/11 - 2
17-7579505-TC-TG c.181delinsC p.Asp61His Missense 4/11 - 2
17-7579506-C-T c.181G>A p.Asp61Asn Missense 4/11 - 1
17-7579506-C-A c.181G>T p.Asp61Tyr Missense 4/11 - 1
17-7579507-T-G c.180A>C p.Pro60Pro Synonymous 4/11 - 1
17-7579507-T-C c.180A>G p.Pro60Pro Synonymous 4/11 - 1
17-7579507-T-A c.180A>T p.Pro60Pro Synonymous 4/11 - 1
17-7579507-TGG-TGT c.178delinsA p.Pro60Thr Missense 4/11 - 3
17-7579508-G-T c.179C>A p.Pro60Gln Missense 4/11 - 1
17-7579508-G-A c.179C>T p.Pro60Leu Missense 4/11 - 3
17-7579509-G-C c.178C>G p.Pro60Ala Missense 4/11 - 2
17-7579509-G-A c.178C>T p.Pro60Ser Missense 4/11 - 2
17-7579511-C-G c.176G>C p.Gly59Ala Missense 4/11 - 2
17-7579513-TGG-AAC c.172_174delinsGTT p.Pro58Val Missense 4/11 - 1
17-7579514-G-C c.173C>G p.Pro58Arg Missense 4/11 - 2
17-7579514-G-A c.173C>T p.Pro58Leu Missense 4/11 - 1
17-7579515-G-A c.172C>T p.Pro58Ser Missense 4/11 - 1
17-7579515-G-C c.172C>G p.Pro58Ala Missense 4/11 - 1
17-7579515-G-GTCACCCGGAT c.171_172insATCCGGGTGA p.Pro58Ilefs*8 Frameshift 4/11 - 1
17-7579516-G-A c.171C>T p.Asp57Asp Synonymous 4/11 - 2
17-7579517-T-C c.170A>G p.Asp57Gly Missense 4/11 - 2
17-7579517-TC-TG c.169delinsC p.Asp57His Missense 4/11 - 4
17-7579517-T-A c.170A>T p.Asp57Val Missense 4/11 - 1
17-7579518-C-T c.169G>A p.Asp57Asn Missense 4/11 - 7
17-7579518-TCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGG-T c.111_169del p.Gln38Profs*5 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 4/11 - 1
17-7579519-T-C c.168A>G p.Glu56Glu Synonymous 4/11 - 1
17-7579519-TTC-TGT c.166_167delinsAC p.Glu56Thr Missense 4/11 - 1
17-7579520-T-G c.167A>C p.Glu56Ala Missense 4/11 - 1
17-7579520-T-A c.167A>T p.Glu56Val Missense 4/11 - 1
17-7579521-C-A c.166G>T p.Glu56* Nonsense 4/11 - 7
17-7579521-C-G c.166G>C p.Glu56Gln Missense 4/11 - 1
17-7579521-C-T c.166G>A p.Glu56Lys Missense 4/11 - 2
17-7579523-G-A c.164C>T p.Thr55Ile Missense 4/11 - 1
17-7579523-GT-GA c.163delinsT p.Thr55Ser Missense 4/11 - 3
17-7579524-T-C c.163A>G p.Thr55Ala Missense 4/11 - 6
17-7579524-T-G c.163A>C p.Thr55Pro Missense 4/11 - 1
17-7579525-G-A c.162C>T p.Phe54Phe Synonymous 4/11 - 1
17-7579526-A-G c.161T>C p.Phe54Ser Missense 4/11 - 14
17-7579526-AA-GC c.160_161delinsGC p.Phe54Ala Missense 4/11 - 5
17-7579527-A-T c.160T>A p.Phe54Ile Missense 4/11 - 1
17-7579527-A-AA c.161dup p.Thr55Hisfs*2 Frameshift 4/11 - 1
17-7579528-C-A c.159G>T p.Trp53Cys Missense 4/11 - 1
17-7579529-C-A c.158G>T p.Trp53Leu Missense 4/11 - 1
17-7579529-C-G c.158G>C p.Trp53Ser Missense 4/11 - 1
17-7579529-C-T c.158G>A p.Trp53* Nonsense 4/11 - 13
17-7579529-CA-GC c.157_158delinsGC p.Trp53Ala Missense 4/11 - 3
17-7579530-A-C c.157T>G p.Trp53Gly Missense 4/11 - 2
17-7579531-T-G c.156A>C p.Gln52His Missense 4/11 - 1
17-7579531-T-A c.156A>T p.Gln52His Missense 4/11 - 1
17-7579532-T-A c.155A>T p.Gln52Leu Missense 4/11 - 2
17-7579532-TG-GC c.154_155delinsGC p.Gln52Ala Missense 4/11 - 1
17-7579533-G-A c.154C>T p.Gln52* Nonsense 4/11 - 5
17-7579534-TTC-TTT c.151delinsA p.Glu51Lys Missense 4/11 - 1
17-7579535-T-G c.152A>C p.Glu51Ala Missense 4/11 - 1
17-7579536-C-A c.151G>T p.Glu51* Nonsense 4/11 - 4
17-7579536-C-T c.151G>A p.Glu51Lys Missense 4/11 - 3
17-7579537-A-G c.150T>C p.Ile50Ile Synonymous 4/11 - 4
17-7579537-A-T c.150T>A p.Ile50Ile Synonymous 4/11 - 4
17-7579537-AA-AG c.149delinsC p.Ile50Thr Missense 4/11 - 1
17-7579538-AT-GC c.148_149delinsGC p.Ile50Ala Missense 4/11 - 5
17-7579538-A-T c.149T>A p.Ile50Asn Missense 4/11 - 1
17-7579539-T-C c.148A>G p.Ile50Val Missense 4/11 - 6
17-7579540-ATC-AAG c.145_146delinsCT p.Asp49Leu Missense 4/11 - 2
17-7579540-A-C c.147T>G p.Asp49Glu Missense 4/11 - 1
17-7579541-TC-TT c.145delinsA p.Asp49Asn Missense 4/11 - 1
17-7579541-TC-TG c.145delinsC p.Asp49His Missense 4/11 - 1
17-7579541-T-A c.146A>T p.Asp49Val Missense 4/11 - 1
17-7579541-T-G c.146A>C p.Asp49Ala Missense 4/11 - 5
17-7579542-C-G c.145G>C p.Asp49His Missense 4/11 - 9
17-7579542-C-A c.145G>T p.Asp49Tyr Missense 4/11 - 2
17-7579542-C-T c.145G>A p.Asp49Asn Missense 4/11 - 2
17-7579542-C-CA c.144_145insT p.Asp49* Nonsense 4/11 - 1
17-7579543-CG-C c.144del p.Asp48Glufs*75 Frameshift 4/11 - 1
17-7579543-GTC-AAG c.142_144delinsCTT p.Asp48Leu Missense 4/11 - 2
17-7579543-G-C c.144C>G p.Asp48Glu Missense 4/11 - 1
17-7579543-G-T c.144C>A p.Asp48Glu Missense 4/11 - 1
17-7579544-T-C c.143A>G p.Asp48Gly Missense 4/11 - 1
17-7579544-T-G c.143A>C p.Asp48Ala Missense 4/11 - 2
17-7579545-C-G c.142G>C p.Asp48His Missense 4/11 - 2
17-7579545-C-T c.142G>A p.Asp48Asn Missense 4/11 - 1
17-7579547-G-A c.140C>T p.Pro47Leu Missense 4/11 - 2
17-7579547-G-C c.140C>G p.Pro47Arg Missense 4/11 - 1
17-7579548-G-T c.139C>A p.Pro47Thr Missense 4/11 - 8
17-7579548-G-A c.139C>T p.Pro47Ser Missense 4/11 - 68
17-7579548-G-C c.139C>G p.Pro47Ala Missense 4/11 - 2
17-7579548-G-GT c.138_139insA p.Pro47Thrfs*5 Frameshift 4/11 - 1
17-7579549-GG-AA c.137_138delinsTT p.Ser46Phe Nonsense 4/11 - 1
17-7579549-GGA-GAG c.136_137delinsCT p.Ser46Leu Missense 4/11 - 1
17-7579549-G-C c.138C>G p.Ser46Ser Synonymous 4/11 - 1
17-7579549-G-A c.138C>T p.Ser46Ser Synonymous 4/11 - 1
17-7579549-G-T c.138C>A p.Ser46Ser Synonymous 4/11 - 1
17-7579550-GA-AA c.137delinsT p.Ser46Phe Missense 4/11 - 1
17-7579550-G-T c.137C>A p.Ser46Tyr Missense 4/11 - 1
17-7579550-G-A c.137C>T p.Ser46Phe Missense 4/11 - 6
17-7579550-GA-GG c.136delinsC p.Ser46Pro Missense 4/11 - 5
17-7579551-A-C c.136T>G p.Ser46Ala Missense 4/11 - 38
17-7579551-A-G c.136T>C p.Ser46Pro Missense 4/11 - 6
17-7579552-CAG-GAC c.133_135delinsGTC p.Leu45Val Missense 4/11 - 1
17-7579553-A-G c.134T>C p.Leu45Pro Missense 4/11 - 2
17-7579553-AG-GC c.133_134delinsGC p.Leu45Ala Missense 4/11 - 3
17-7579554-G-T c.133C>A p.Leu45Met Missense 4/11 - 1
17-7579554-G-C c.133C>G p.Leu45Val Missense 4/11 - 1
17-7579555-C-A c.132G>T p.Met44Ile Missense 4/11 - 1
17-7579555-C-G c.132G>C p.Met44Ile Missense 4/11 - 1
17-7579555-C-T c.132G>A p.Met44Ile Missense 4/11 - 1
17-7579556-AT-GC c.130_131delinsGC p.Met44Ala Missense 4/11 - 3
17-7579556-A-T c.131T>A p.Met44Lys Missense 4/11 - 3
17-7579559-AA-GA c.128delinsC p.Leu43Ser Missense 4/11 - 1
17-7579559-AA-GC c.127_128delinsGC p.Leu43Ala Missense 4/11 - 5
17-7579559-A-T c.128T>A p.Leu43* Nonsense 4/11 - 1
17-7579559-A-G c.128T>C p.Leu43Ser Missense 4/11 - 1
17-7579560-A-G c.127T>C p.Leu43Leu Synonymous 4/11 - 1
17-7579558-C-T c.129G>A p.Leu43Leu Synonymous 4/11 - 1
17-7579560-A-C c.127T>G p.Leu43Val Missense 4/11 - 1
17-7579561-A-G c.126T>C p.Asp42Asp Synonymous 4/11 - 1
17-7579561-ATC-TAA c.124_126delinsTTA p.Asp42Leu Nonsense 4/11 - 2
17-7579561-ATC-AAG c.124_125delinsCT p.Asp42Leu Missense 4/11 - 1
17-7579562-T-G c.125A>C p.Asp42Ala Missense 4/11 - 1
17-7579562-TC-TG c.124delinsC p.Asp42His Missense 4/11 - 1
17-7579563-C-A c.124G>T p.Asp42Tyr Missense 4/11 - 1
17-7579564-ATC-AAG c.121_122delinsCT p.Asp41Leu Missense 4/11 - 2
17-7579565-T-G c.122A>C p.Asp41Ala Missense 4/11 - 1
17-7579567-C-T c.120G>A p.Met40Ile Missense 4/11 - 3
17-7579568-AT-TA c.118_119delinsTA p.Met40* Nonsense 4/11 - 1
17-7579568-AT-GG c.118_119delinsCC p.Met40Pro Missense 4/11 - 1
17-7579568-AT-GC c.118_119delinsGC p.Met40Ala Missense 4/11 - 2
17-7579570-T-C c.117A>G p.Ala39Ala Synonymous 4/11 - 1
17-7579570-T-G c.117A>C p.Ala39Ala Synonymous 4/11 - 1
17-7579570-TG-AC c.116_117delinsGT p.Ala39Gly Missense 4/11 - 1
17-7579570-TGC-TGT c.115delinsA p.Ala39Thr Missense 4/11 - 4
17-7579570-T-A c.117A>T p.Ala39Ala Synonymous 4/11 - 1
17-7579571-G-T c.116C>A p.Ala39Glu Missense 4/11 - 1
17-7579571-GC-AG c.115_116delinsCT p.Ala39Leu Missense 4/11 - 2
17-7579572-C-G c.115G>C p.Ala39Pro Missense 4/11 - 1
17-7579574-TTGGGACGGCAAGGGGGACT-T c.97_115del p.Ser33Glnfs*5 SpliceAcceptorDeletion 4/11 3/10 1
17-7579575-G-A c.112C>T p.Gln38* Nonsense 4/11 - 2
17-7579576-GGA-GAG c.109_110delinsCT p.Ser37Leu Missense 4/11 - 1
17-7579577-GA-AA c.110delinsT p.Ser37Phe Missense 4/11 - 1
17-7579577-G-A c.110C>T p.Ser37Phe Missense 4/11 - 5
17-7579577-G-C c.110C>G p.Ser37Cys Missense 4/11 - 3
17-7579577-G-T c.110C>A p.Ser37Tyr Missense 4/11 - 1
17-7579578-A-C c.109T>G p.Ser37Ala Missense 4/11 - 38
17-7579578-A-G c.109T>C p.Ser37Pro Missense 4/11 - 3
17-7579579-CGG-TTT c.106_108delinsAAA p.Pro36Lys Missense 4/11 - 1
17-7579579-C-T c.108G>A p.Pro36Pro Synonymous 4/11 - 25
17-7579580-GG-GA c.106delinsT p.Pro36Ser Missense 4/11 - 1
17-7579580-G-A c.107C>T p.Pro36Leu Missense 4/11 - 3
17-7579581-G-T c.106C>A p.Pro36Thr Missense 4/11 - 3
17-7579581-G-A c.106C>T p.Pro36Ser Missense 4/11 - 1
17-7579582-C-A c.105G>T p.Leu35Phe Missense 4/11 - 3
17-7579582-C-G c.105G>C p.Leu35Phe Missense 4/11 - 3
17-7579582-C-T c.105G>A p.Leu35Leu Synonymous 4/11 - 1
17-7579583-AA-GC c.103_104delinsGC p.Leu35Ala Missense 4/11 - 10
17-7579583-A-G c.104T>C p.Leu35Ser Missense 4/11 - 1
17-7579585-G-T c.102C>A p.Pro34Pro Synonymous 4/11 - 5
17-7579585-G-C c.102C>G p.Pro34Pro Synonymous 4/11 - 4
17-7579586-G-A c.101C>T p.Pro34Leu Missense 4/11 - 1
17-7579587-G-A c.100C>T p.Pro34Ser Missense 4/11 - 2
17-7579588-GGA-GAG c.97_98delinsCT p.Ser33Leu Missense 4/11 - 1
17-7579589-GA-CT c.97_98delinsAG p.Ser33Ser Missense 4/11 - 1
17-7579589-G-GC c.97_98insG p.Ser33Cysfs*10 SpliceAcceptorInsertion 4/11 - 1
17-7579589-G-C c.98C>G p.Ser33Cys Missense 4/11 - 6
17-7579589-G-A c.98C>T p.Ser33Phe Missense 4/11 - 8
17-7579589-G-T c.98C>A p.Ser33Tyr Missense 4/11 - 22
17-7579589-GA-GG c.97delinsC p.Ser33Pro Missense 4/11 - 1
17-7579590-A-T c.97T>A p.Ser33Thr Missense 4/11 - 1
17-7579590-A-G c.97T>C p.Ser33Pro Missense 4/11 - 3
17-7579590-A-C c.97T>G p.Ser33Ala Missense 4/11 - 19
17-7579591-C-A c.97-1G>T - IntronicSNV - 3/10 1
17-7579592-T-G c.97-2A>C - IntronicSNV - 3/10 1
17-7579596-G-A c.97-6C>T - IntronicSNV - 3/10 2
17-7579601-G-C c.97-11C>G - IntronicSNV - 3/10 2
17-7579618-A-T c.97-28T>A - IntronicSNV - 3/10 1
17-7579619-G-T c.97-29C>A - IntronicSNV - 3/10 15
17-7579620-G-T c.97-30C>A - IntronicSNV - 3/10 1
17-7579642-C-A c.97-52G>T - IntronicSNV - 3/10 1
17-7579642-C-G c.97-52G>C - IntronicSNV - 3/10 1
17-7579642-C-T c.97-52G>A - IntronicSNV - 3/10 2
17-7579647-CC-C c.97-52del - IntronicDeletion - 3/10 1
17-7579652-CC-C c.96+50del - IntronicDeletion - 3/10 1
17-7579659-GT-G c.96+41del - IntronicDeletion - 3/10 1
17-7579669-CTCCAGGTCCCCAGCCC-C c.96+41_97-54del - IntronicDeletion - 3/10 4
17-7579699-C-T c.96+1G>A - IntronicSNV - 3/10 1
17-7579701-AG-GC c.94_95delinsGC p.Leu32Ala Missense 3/11 - 4
17-7579701-AG-GA c.94_95delinsTC p.Leu32Ser Missense 3/11 - 1
17-7579701-A-G c.95T>C p.Leu32Pro Missense 3/11 - 2
17-7579702-G-T c.94C>A p.Leu32Met Missense 3/11 - 1
17-7579703-A-T c.93T>A p.Val31Val Synonymous 3/11 - 1
17-7579703-A-C c.93T>G p.Val31Val Synonymous 3/11 - 1
17-7579703-A-G c.93T>C p.Val31Val Synonymous 3/11 - 1
17-7579704-AC-TG c.91_92delinsCA p.Val31His Missense 3/11 - 1
17-7579705-C-T c.91G>A p.Val31Ile Missense 3/11 - 19
17-7579706-GTT-CAA c.88_90delinsTTG p.Asn30Leu Missense 3/11 - 1
17-7579706-GTT-GAG c.88_89delinsCT p.Asn30Leu Missense 3/11 - 1
17-7579707-T-C c.89A>G p.Asn30Ser Missense 3/11 - 1
17-7579707-TT-GC c.88_89delinsGC p.Asn30Ala Missense 3/11 - 1
17-7579708-TT-T c.89del p.Asn30Thrfs*14 Frameshift 3/11 - 1
17-7579708-T-C c.88A>G p.Asn30Asp Missense 3/11 - 2
17-7579709-GTT-CAA c.85_87delinsTTG p.Asn29Leu Missense 3/11 - 1
17-7579709-GTT-GAG c.85_86delinsCT p.Asn29Leu Missense 3/11 - 1
17-7579709-G-C c.87C>G p.Asn29Lys Missense 3/11 - 2
17-7579709-G-T c.87C>A p.Asn29Lys Missense 3/11 - 2
17-7579710-T-A c.86A>T p.Asn29Ile Missense 3/11 - 2
17-7579710-TT-GG c.85_86delinsCC p.Asn29Pro Missense 3/11 - 1
17-7579710-TT-GC c.85_86delinsGC p.Asn29Ala Missense 3/11 - 1
17-7579710-T-C c.86A>G p.Asn29Ser Missense 3/11 - 6
17-7579711-T-C c.85A>G p.Asn29Asp Missense 3/11 - 3
17-7579712-T-A c.84A>T p.Glu28Asp Missense 3/11 - 2
17-7579712-T-G c.84A>C p.Glu28Asp Missense 3/11 - 2
17-7579712-TTC-TGT c.82_83delinsAC p.Glu28Thr Missense 3/11 - 1
17-7579713-T-TT c.86dup p.Asn29Lysfs*14 Frameshift 3/11 - 1
17-7579713-T-A c.83A>T p.Glu28Val Missense 3/11 - 1
17-7579714-C-G c.82G>C p.Glu28Gln Missense 3/11 - 1
17-7579714-C-T c.82G>A p.Glu28Lys Missense 3/11 - 2
17-7579715-AGG-TAA c.79_81delinsTTA p.Pro27Leu Nonsense 3/11 - 2
17-7579715-AGG-AAG c.80delinsT p.Pro27Leu Missense 3/11 - 5
17-7579715-CA-C c.81del p.Glu28Lysfs*16 Frameshift 3/11 - 1
17-7579715-A-C c.81T>G p.Pro27Pro Synonymous 3/11 - 2
17-7579715-A-T c.81T>A p.Pro27Pro Synonymous 3/11 - 2
17-7579715-A-G c.81T>C p.Pro27Pro Synonymous 3/11 - 2
17-7579716-G-A c.80C>T p.Pro27Leu Missense 3/11 - 5
17-7579716-G-C c.80C>G p.Pro27Arg Missense 3/11 - 3
17-7579716-GG-GA c.79delinsT p.Pro27Ser Missense 3/11 - 1
17-7579716-GG-TA c.79_80delinsTA p.Pro27Tyr Missense 3/11 - 2
17-7579716-GG-AT c.79_80delinsAT p.Pro27Ile Missense 3/11 - 1
17-7579716-GG-AA c.79_80delinsTT p.Pro27Phe Missense 3/11 - 4
17-7579716-GG-TT c.79_80delinsAA p.Pro27Asn Missense 3/11 - 2
17-7579716-GG-TG c.80delinsA p.Pro27His Missense 3/11 - 1
17-7579717-G-A c.79C>T p.Pro27Ser Missense 3/11 - 11
17-7579717-G-C c.79C>G p.Pro27Ala Missense 3/11 - 8
17-7579717-G-T c.79C>A p.Pro27Thr Missense 3/11 - 2
17-7579717-GG-G c.80del p.Pro27Leufs*17 Frameshift 3/11 - 2
17-7579719-AG-GC c.76_77delinsGC p.Leu26Ala Missense 3/11 - 10
17-7579719-A-T c.77T>A p.Leu26His Missense 3/11 - 1
17-7579719-AA-A c.78del p.Pro27Leufs*17 Frameshift 3/11 - 1
17-7579720-G-C c.76C>G p.Leu26Val Missense 3/11 - 1
17-7579720-G-A c.76C>T p.Leu26Phe Missense 3/11 - 1
17-7579720-G-T c.76C>A p.Leu26Ile Missense 3/11 - 2
17-7579722-C-A c.75-1G>T - IntronicSNV - 2/10 1
17-7579722-C-G c.75-1G>C - IntronicSNV - 2/10 1
17-7579739-A-C c.75-18T>G - IntronicSNV - 2/10 1
17-7579763-C-T c.75-42G>A - IntronicSNV - 2/10 1
17-7579801-G-C c.74+38C>G - IntronicSNV - 2/10 34
17-7579801-G-A c.74+38C>T - IntronicSNV - 2/10 29
17-7579801-G-T c.74+38C>A - IntronicSNV - 2/10 29
17-7579823-C-G c.74+16G>C - IntronicSNV - 2/10 1
17-7579825-A-G c.74+14T>C - IntronicSNV - 2/10 1
17-7579839-A-G c.74T>C p.Leu25Pro Missense 2/11 - 2
17-7579839-AG-GA c.73_74delinsTC p.Leu25Ser Missense 2/11 - 1
17-7579839-AG-GC c.73_74delinsGC p.Leu25Ala Missense 2/11 - 4
17-7579839-A-C c.74T>G p.Leu25Arg Missense 2/11 - 2
17-7579839-AG-TC c.73_74delinsGA p.Leu25Glu Missense 2/11 - 1
17-7579839-A-T c.74T>A p.Leu25Gln Missense 2/11 - 32
17-7579841-T-A c.72A>T p.Lys24Asn Missense 2/11 - 8
17-7579841-T-G c.72A>C p.Lys24Asn Missense 2/11 - 8
17-7579842-TT-GC c.70_71delinsGC p.Lys24Ala Missense 2/11 - 1
17-7579842-T-C c.71A>G p.Lys24Arg Missense 2/11 - 9
17-7579843-TT-T c.72del p.Lys24Asnfs*20 Frameshift 2/11 - 2
17-7579843-T-A c.70A>T p.Lys24* Nonsense 2/11 - 1
17-7579843-T-C c.70A>G p.Lys24Glu Missense 2/11 - 2
17-7579844-CC-TT c.68_69delinsAA p.Trp23* Missense 2/11 - 1
17-7579845-C-T c.68G>A p.Trp23* Nonsense 2/11 - 1
17-7579844-C-T c.69G>A p.Trp23* Nonsense 2/11 - 1
17-7579845-CA-GC c.67_68delinsGC p.Trp23Ala Missense 2/11 - 7
17-7579845-C-G c.68G>C p.Trp23Ser Missense 2/11 - 31
17-7579846-A-C c.67T>G p.Trp23Gly Missense 2/11 - 2
17-7579847-T-A c.66A>T p.Leu22Leu Synonymous 2/11 - 3
17-7579847-TAG-TGG c.65delinsC p.Leu22Pro Missense 2/11 - 2
17-7579847-T-G c.66A>C p.Leu22Leu Synonymous 2/11 - 3
17-7579847-T-C c.66A>G p.Leu22Leu Synonymous 2/11 - 3
17-7579849-G-A c.64C>T p.Leu22Leu Synonymous 2/11 - 3
17-7579848-AG-GG c.65delinsC p.Leu22Pro Missense 2/11 - 3
17-7579848-A-C c.65T>G p.Leu22Arg Missense 2/11 - 2
17-7579848-A-T c.65T>A p.Leu22Gln Missense 2/11 - 67
17-7579848-AG-TC c.64_65delinsGA p.Leu22Glu Missense 2/11 - 1
17-7579848-AG-GC c.64_65delinsGC p.Leu22Ala Missense 2/11 - 9
17-7579849-G-C c.64C>G p.Leu22Val Missense 2/11 - 1
17-7579849-G-T c.64C>A p.Leu22Ile Missense 2/11 - 1
17-7579850-G-T c.63C>A p.Asp21Glu Missense 2/11 - 1
17-7579850-G-A c.63C>T p.Asp21Asp Synonymous 2/11 - 6
17-7579850-G-C c.63C>G p.Asp21Glu Missense 2/11 - 1
17-7579851-T-G c.62A>C p.Asp21Ala Missense 2/11 - 4
17-7579851-TC-TG c.61delinsC p.Asp21His Missense 2/11 - 1
17-7579852-C-A c.61G>T p.Asp21Tyr Missense 2/11 - 1
17-7579852-C-T c.61G>A p.Asp21Asn Missense 2/11 - 2
17-7579853-TG-AT c.59_60delinsAT p.Ser20Tyr Missense 2/11 - 1
17-7579853-TGA-GAC c.58_60delinsGTC p.Ser20Val Missense 2/11 - 10
17-7579853-TGA-AAC c.58_60delinsGTT p.Ser20Val Missense 2/11 - 1
17-7579853-TG-GT c.59_60delinsAC p.Ser20Tyr Missense 2/11 - 5
17-7579855-A-G c.58T>C p.Ser20Pro Missense 2/11 - 5
17-7579855-A-C c.58T>G p.Ser20Ala Missense 2/11 - 31
17-7579855-A-T c.58T>A p.Ser20Thr Missense 2/11 - 1
17-7579856-A-G c.57T>C p.Phe19Phe Synonymous 2/11 - 1
17-7579856-AAA-GAG c.55_57delinsCTC p.Phe19Leu Missense 2/11 - 1
17-7579857-A-G c.56T>C p.Phe19Ser Missense 2/11 - 2
17-7579857-AA-GC c.55_56delinsGC p.Phe19Ala Missense 2/11 - 20
17-7579857-AA-GA c.56delinsC p.Phe19Ser Missense 2/11 - 1
17-7579857-AA-CG c.55_56delinsCG p.Phe19Arg Missense 2/11 - 1
17-7579859-TGT-CAT c.53_54delinsTG p.Thr18Met Missense 2/11 - 2
17-7579859-T-C c.54A>G p.Thr18Thr Synonymous 2/11 - 1
17-7579859-T-A c.54A>T p.Thr18Thr Synonymous 2/11 - 1
17-7579859-T-G c.54A>C p.Thr18Thr Synonymous 2/11 - 1
17-7579859-TGT-GAC c.52_54delinsGTC p.Thr18Val Missense 2/11 - 5
17-7579859-AT-A c.54del p.Ser20Glnfs*24 Frameshift 2/11 - 1
17-7579860-GT-GA c.52delinsT p.Thr18Ser Missense 2/11 - 5
17-7579860-G-T c.53C>A p.Thr18Lys Missense 2/11 - 1
17-7579861-T-G c.52A>C p.Thr18Pro Missense 2/11 - 2
17-7579861-T-A c.52A>T p.Thr18Ser Missense 2/11 - 4
17-7579861-T-C c.52A>G p.Thr18Ala Missense 2/11 - 14
17-7579862-T-G c.51A>C p.Glu17Asp Missense 2/11 - 3
17-7579862-T-A c.51A>T p.Glu17Asp Missense 2/11 - 3
17-7579862-TTTC-T c.49_51del p.Glu17del InFrameDeletion 2/11 - 1
17-7579862-TTC-TGT c.49_50delinsAC p.Glu17Thr Missense 2/11 - 1
17-7579863-T-G c.50A>C p.Glu17Ala Missense 2/11 - 1
17-7579863-T-TT c.52dup p.Thr18Asnfs*11 Frameshift 2/11 - 1
17-7579864-C-T c.49G>A p.Glu17Lys Missense 2/11 - 32
17-7579866-T-A c.47A>T p.Gln16Leu Missense 2/11 - 6
17-7579866-TG-GC c.46_47delinsGC p.Gln16Ala Missense 2/11 - 1
17-7579866-CT-C c.47del p.Gln16Argfs*28 Frameshift 2/11 - 1
17-7579866-TG-TC c.46delinsG p.Gln16Glu Missense 2/11 - 1
17-7579867-G-A c.46C>T p.Gln16* Nonsense 2/11 - 2
17-7579867-G-T c.46C>A p.Gln16Lys Missense 2/11 - 2
17-7579868-ACT-GAG c.43_45delinsCTC p.Ser15Leu Missense 2/11 - 14
17-7579868-ACT-TGA c.43_45delinsTCA p.Ser15Ser Nonsense 2/11 - 1
17-7579869-C-G c.44G>C p.Ser15Thr Missense 2/11 - 1
17-7579869-C-A c.44G>T p.Ser15Ile Missense 2/11 - 1
17-7579869-C-T c.44G>A p.Ser15Asn Missense 2/11 - 2
17-7579869-CT-CC c.43delinsG p.Ser15Gly Missense 2/11 - 42
17-7579869-CT-CA c.43delinsT p.Ser15Cys Missense 2/11 - 2
17-7579869-CT-GA c.43_44delinsTC p.Ser15Ser Missense 2/11 - 28
17-7579869-CT-GC c.43_44delinsGC p.Ser15Ala Missense 2/11 - 134
17-7579869-CT-TT c.44delinsA p.Ser15Asn Missense 2/11 - 4
17-7579870-T-A c.43A>T p.Ser15Cys Missense 2/11 - 27
17-7579870-T-C c.43A>G p.Ser15Gly Missense 2/11 - 4
17-7579871-TCAG-T c.40_42del p.Leu14del InFrameDeletion 2/11 - 1
17-7579872-AG-GC c.40_41delinsGC p.Leu14Ala Missense 2/11 - 1
17-7579872-AG-TG c.41delinsA p.Leu14Gln Missense 2/11 - 1
17-7579872-A-T c.41T>A p.Leu14Gln Missense 2/11 - 5
17-7579873-AG-A c.40del p.Leu14* Frameshift 2/11 - 1
17-7579874-A-T c.39T>A p.Pro13Pro Synonymous 2/11 - 1
17-7579874-A-C c.39T>G p.Pro13Pro Synonymous 2/11 - 1
17-7579874-A-G c.39T>C p.Pro13Pro Synonymous 2/11 - 1
17-7579875-G-A c.38C>T p.Pro13Leu Missense 2/11 - 6
17-7579875-GG-TG c.38delinsA p.Pro13His Missense 2/11 - 2
17-7579875-GG-AT c.37_38delinsAT p.Pro13Ile Missense 2/11 - 2
17-7579876-G-A c.37C>T p.Pro13Ser Missense 2/11 - 2
17-7579876-G-C c.37C>G p.Pro13Ala Missense 2/11 - 1
17-7579877-G-A c.36C>T p.Pro12Pro Synonymous 2/11 - 2
17-7579877-G-C c.36C>G p.Pro12Pro Synonymous 2/11 - 2
17-7579877-GGG-TGG c.36delinsA p.Pro12Pro Missense 2/11 - 2
17-7579877-G-T c.36C>A p.Pro12Pro Synonymous 2/11 - 2
17-7579878-G-A c.35C>T p.Pro12Leu Missense 2/11 - 5
17-7579878-G-T c.35C>A p.Pro12His Missense 2/11 - 2
17-7579878-G-C c.35C>G p.Pro12Arg Missense 2/11 - 1
17-7579878-GG-AT c.34_35delinsAT p.Pro12Ile Missense 2/11 - 2
17-7579879-G-T c.34C>A p.Pro12Thr Missense 2/11 - 2
17-7579879-G-C c.34C>G p.Pro12Ala Missense 2/11 - 13
17-7579879-G-A c.34C>T p.Pro12Ser Missense 2/11 - 1
17-7579881-TC-AG c.31_32delinsCT p.Glu11Leu Missense 2/11 - 2
17-7579881-TC-CC c.32delinsG p.Glu11Gly Missense 2/11 - 1
17-7579881-T-G c.32A>C p.Glu11Ala Missense 2/11 - 2
17-7579882-C-G c.31G>C p.Glu11Gln Missense 2/11 - 7
17-7579882-C-T c.31G>A p.Glu11Lys Missense 2/11 - 3
17-7579883-G-A c.30C>T p.Val10Val Synonymous 2/11 - 3
17-7579883-G-T c.30C>A p.Val10Val Synonymous 2/11 - 3
17-7579883-G-C c.30C>G p.Val10Val Synonymous 2/11 - 3
17-7579884-AC-CG c.28_29delinsCG p.Val10Arg Missense 2/11 - 4
17-7579884-AC-TG c.28_29delinsCA p.Val10His Missense 2/11 - 1
17-7579885-C-T c.28G>A p.Val10Ile Missense 2/11 - 4
17-7579887-C-T c.26G>A p.Ser9Asn Missense 2/11 - 1
17-7579887-C-G c.26G>C p.Ser9Thr Missense 2/11 - 1
17-7579888-T-C c.25A>G p.Ser9Gly Missense 2/11 - 1
17-7579891-G-A c.22C>T p.Pro8Ser Missense 2/11 - 2
17-7579894-C-A c.19G>T p.Asp7Tyr Missense 2/11 - 2
17-7579896-G-T c.17C>A p.Ser6* Nonsense 2/11 - 1
17-7579896-G-C c.17C>G p.Ser6* Nonsense 2/11 - 1
17-7579896-G-GTT c.16_17insAA p.Ser6* Nonsense 2/11 - 1
17-7579896-TG-T c.17del p.Ser6* Frameshift 2/11 - 1
17-7579900-G-A c.13C>T p.Gln5* Nonsense 2/11 - 1
17-7579902-G-A c.11C>T p.Pro4Leu Missense 2/11 - 1
17-7579910-C-T c.3G>A p.Met1? Missense 2/11 - 1
17-7579912-T-C c.1A>G p.Met1? Missense 2/11 - 1
17-7580052-C-T c.-28-112G>A - IntronicSNV - 1/10 18
17-7580840-T-G c.-28-900A>C - IntronicSNV - 1/10 1
17-7580840-T-A c.-28-900A>T - IntronicSNV - 1/10 1
17-7580840-T-C c.-28-900A>G - IntronicSNV - 1/10 1
17-7580941-C-T c.-28-1001G>A - IntronicSNV - 1/10 1
17-7581042-A-G c.-28-1102T>C - IntronicSNV - 1/10 1
17-7581228-G-A c.-28-1288C>T - IntronicSNV - 1/10 1
17-7583013-C-G c.-28-3073G>C - IntronicSNV - 1/10 9
17-7583072-A-G c.-28-3132T>C - IntronicSNV - 1/10 1
17-7583083-G-A c.-28-3143C>T - IntronicSNV - 1/10 11
17-7583083-G-C c.-28-3143C>G - IntronicSNV - 1/10 11
17-7583124-G-C c.-28-3184C>G - IntronicSNV - 1/10 1
17-7583391-G-C c.-28-3451C>G - IntronicSNV - 1/10 1
17-7584400-T-C c.-28-4460A>G - IntronicSNV - 1/10 1
17-7587899-T-C c.-29+2796A>G - intron_variant - 1/10 1
17-7588006-A-C c.-29+2689T>G - intron_variant - 1/10 2
17-7588560-A-G c.-29+2135T>C - intron_variant - 1/10 4
17-7589311-G-C c.-29+1384C>G - intron_variant - 1/10 7
17-7589751-C-G c.-29+944G>C - intron_variant - 1/10 1
17-7589751-C-A c.-29+944G>T - intron_variant - 1/10 1
17-7590777-T-C c.-111A>G - 5_prime_UTR_variant 1/11 - 1