SERPINB3

SERPINB3 serpin family B member 3

Annotation transcript: NM_006919.3

1100 unique variant annotations were identified in 821 publications

Gene-Specific Resource Links:

OMIM

Entrez

Ensembl

HGNC

COSMIC

ClinGen

PubMed

GeneReviews

ClinVar

gnomAD v3

gnomAD v2.1

Variant ID	cDot	pDot	Consequence	Exon	Intron	Reference Count
18-61322551-C-T	c.*340G>A	-	3-UTRSNV	8/8	-	1
18-61322844-C-G	c.*47G>C	-	3-UTRSNV	8/8	-	1
18-61322844-C-T	c.*47G>A	-	3-UTRSNV	8/8	-	1
18-61322849-G-C	c.*42C>G	-	3-UTRSNV	8/8	-	4
18-61322850-C-T	c.*41G>A	-	3-UTRSNV	8/8	-	1
18-61322894-C-T	c.1170G>A	p.P390=	Synonymous	8/8	-	1
18-61322895-G-A	c.1169C>T	p.P390L	Missense	8/8	-	2
18-61322896-G-A	c.1168C>T	p.P390S	Missense	8/8	-	4
18-61322898-G-A	c.1166C>T	p.S389F	Missense	8/8	-	1
18-61322898-GA-CC	c.1165_1166delinsGG	p.S389G	Missense	8/8	-	1
18-61322898-G-T	c.1166C>A	p.S389Y	Missense	8/8	-	2
18-61322899-A-C	c.1165T>G	p.S389A	Missense	8/8	-	1
18-61322899-A-T	c.1165T>A	p.S389T	Missense	8/8	-	3
18-61322901-G-A	c.1163C>T	p.S388L	Missense	8/8	-	1
18-61322903-G-A	c.1161C>T	p.F387=	Synonymous	8/8	-	2
18-61322903-G-C	c.1161C>G	p.F387L	Missense	8/8	-	1
18-61322903-G-T	c.1161C>A	p.F387L	Missense	8/8	-	1
18-61322905-A-G	c.1159T>C	p.F387L	Missense	8/8	-	1
18-61322911-C-T	c.1153G>A	p.G385S	Missense	8/8	-	3
18-61322914-A-G	c.1150T>C	p.Y384H	Missense	8/8	-	1
18-61322915-G-T	c.1149C>A	p.F383L	Missense	8/8	-	3
18-61322915-G-C	c.1149C>G	p.F383L	Missense	8/8	-	2
18-61322917-A-C	c.1147T>G	p.F383V	Missense	8/8	-	1
18-61322917-A-G	c.1147T>C	p.F383L	Missense	8/8	-	2
18-61322918-G-A	c.1146C>T	p.L382=	Synonymous	8/8	-	1
18-61322918-G-C	c.1146C>G	p.L382=	Synonymous	8/8	-	1
18-61322918-G-T	c.1146C>A	p.L382=	Synonymous	8/8	-	1
18-61322920-G-T	c.1144C>A	p.L382I	Missense	8/8	-	2
18-61322921-G-A	c.1143C>T	p.I381=	Synonymous	8/8	-	1
18-61322922-A-T	c.1142T>A	p.I381N	Missense	8/8	-	1
18-61322923-T-C	c.1141A>G	p.I381V	Missense	8/8	-	1
18-61322925-CT-AG	c.1138_1139inv	p.S380L	Missense	8/8	-	1
18-61322926-T-A	c.1138A>T	p.S380C	Missense	8/8	-	1
18-61322928-T-G	c.1136A>C	p.N379T	Missense	8/8	-	3
18-61322930-G-A	c.1134C>T	p.T378=	Synonymous	8/8	-	1
18-61322930-G-T	c.1134C>A	p.T378=	Synonymous	8/8	-	2
18-61322931-G-T	c.1133C>A	p.T378N	Missense	8/8	-	1
18-61322932-T-A	c.1132A>T	p.T378S	Missense	8/8	-	2
18-61322932-T-C	c.1132A>G	p.T378A	Missense	8/8	-	1
18-61322933-C-T	c.1131G>A	p.K377=	Synonymous	8/8	-	1
18-61322934-T-C	c.1130A>G	p.K377R	Missense	8/8	-	1
18-61322935-T-C	c.1129A>G	p.K377E	Missense	8/8	-	1
18-61322936-A-C	c.1128T>G	p.N376K	Missense	8/8	-	1
18-61322936-A-T	c.1128T>A	p.N376K	Missense	8/8	-	1
18-61322937-T-G	c.1127A>C	p.N376T	Missense	8/8	-	1
18-61322940-T-C	c.1124A>G	p.Q375R	Missense	8/8	-	1
18-61322941-G-A	c.1123C>T	p.Q375*	Nonsense	8/8	-	1
18-61322942-C-G	c.1122G>C	p.R374S	Missense	8/8	-	1
18-61322943-C-T	c.1121G>A	p.R374K	Missense	8/8	-	1
18-61322948-G-A	c.1116C>T	p.F372=	Synonymous	8/8	-	2
18-61322951-G-A	c.1113C>T	p.F371=	Synonymous	8/8	-	2
18-61322951-G-C	c.1113C>G	p.F371L	Missense	8/8	-	1
18-61322951-G-T	c.1113C>A	p.F371L	Missense	8/8	-	2
18-61322953-A-G	c.1111T>C	p.F371L	Missense	8/8	-	1
18-61322954-TAG-ACA	c.1108_1110delinsTGT	p.L370C	Missense	8/8	-	1
18-61322955-A-G	c.1109T>C	p.L370P	Missense	8/8	-	1
18-61322956-G-A	c.1108C>T	p.L370=	Synonymous	8/8	-	1
18-61322956-G-T	c.1108C>A	p.L370I	Missense	8/8	-	1
18-61322957-G-A	c.1107C>T	p.F369=	Synonymous	8/8	-	6
18-61322958-A-G	c.1106T>C	p.F369S	Missense	8/8	-	1
18-61322961-G-C	c.1103C>G	p.P368R	Missense	8/8	-	1
18-61322962-G-A	c.1102C>T	p.P368S	Missense	8/8	-	1
18-61322962-G-C	c.1102C>G	p.P368A	Missense	8/8	-	4
18-61322962-G-T	c.1102C>A	p.P368T	Missense	8/8	-	2
18-61322963-G-C	c.1101C>G	p.H367Q	Missense	8/8	-	1
18-61322963-G-T	c.1101C>A	p.H367Q	Missense	8/8	-	2
18-61322964-T-C	c.1100A>G	p.H367R	Missense	8/8	-	2
18-61322965-G-C	c.1099C>G	p.H367D	Missense	8/8	-	8
18-61322965-G-T	c.1099C>A	p.H367N	Missense	8/8	-	1
18-61322966-A-G	c.1098T>C	p.N366=	Synonymous	8/8	-	1
18-61322968-T-A	c.1096A>T	p.N366Y	Missense	8/8	-	1
18-61322970-C-T	c.1094G>A	p.C365Y	Missense	8/8	-	3
18-61322973-T-C	c.1091A>G	p.H364R	Missense	8/8	-	2
18-61322974-G-A	c.1090C>T	p.H364Y	Missense	8/8	-	4
18-61322974-G-C	c.1090C>G	p.H364D	Missense	8/8	-	1
18-61322973-TG-T	c.1090del	p.H364Ifs*10	Frameshift	8/8	-	1
18-61322980-C-G	c.1084G>C	p.E362Q	Missense	8/8	-	1
18-61322980-C-T	c.1084G>A	p.E362K	Missense	8/8	-	8
18-61322980-C-CT	c.1083dup	p.E362Rfs*5	Frameshift	8/8	-	1
18-61322983-C-A	c.1081G>T	p.E361*	Nonsense	8/8	-	1
18-61322983-C-T	c.1081G>A	p.E361K	Missense	8/8	-	5
18-61322986-T-C	c.1078A>G	p.N360D	Missense	8/8	-	3
18-61322988-G-A	c.1076C>T	p.T359I	Missense	8/8	-	1
18-61322988-G-T	c.1076C>A	p.T359N	Missense	8/8	-	1
18-61322991-G-A	c.1073C>T	p.S358L	Missense	8/8	-	4
18-61322993-A-C	c.1071T>G	p.T357=	Synonymous	8/8	-	1
18-61322993-A-G	c.1071T>C	p.T357=	Synonymous	8/8	-	1
18-61322993-A-T	c.1071T>A	p.T357=	Synonymous	8/8	-	1
18-61322994-G-A	c.1070C>T	p.T357I	Missense	8/8	-	1
18-61322995-T-C	c.1069A>G	p.T357A	Missense	8/8	-	19
18-61322995-T-G	c.1069A>C	p.T357P	Missense	8/8	-	3
18-61322996-A-C	c.1068T>G	p.P356=	Synonymous	8/8	-	1
18-61322996-A-G	c.1068T>C	p.P356=	Synonymous	8/8	-	1
18-61322996-A-T	c.1068T>A	p.P356=	Synonymous	8/8	-	1
18-61322998-G-A	c.1066C>T	p.P356S	Missense	8/8	-	5
18-61322998-G-C	c.1066C>G	p.P356A	Missense	8/8	-	1
18-61322998-G-T	c.1066C>A	p.P356T	Missense	8/8	-	2
18-61322999-TGA-GTT	c.1063_1065delinsAAC	p.S355N	Missense	8/8	-	1
18-61323000-G-A	c.1064C>T	p.S355L	Missense	8/8	-	3
18-61323000-G-T	c.1064C>A	p.S355*	Nonsense	8/8	-	2
18-61323001-A-T	c.1063T>A	p.S355T	UnclassifiedSNV	8/8	-	5
18-61323003-G-A	c.1061C>T	p.S354L	Missense	8/8	-	6
18-61323003-G-C	c.1061C>G	p.S354*	Nonsense	8/8	-	2
18-61323003-G-T	c.1061C>A	p.S354*	Nonsense	8/8	-	4
18-61323006-C-A	c.1058G>T	p.G353V	Missense	8/8	-	1
18-61323006-C-T	c.1058G>A	p.G353E	Missense	8/8	-	2
18-61323007-C-A	c.1057G>T	p.G353*	Nonsense	8/8	-	2
18-61323007-C-G	c.1057G>C	p.G353R	Missense	8/8	-	1
18-61323007-C-T	c.1057G>A	p.G353R	Missense	8/8	-	3
18-61323008-G-A	c.1056C>T	p.F352=	Synonymous	8/8	-	2
18-61323009-A-T	c.1055T>A	p.F352Y	UnclassifiedSNV	8/8	-	3
18-61323010-A-C	c.1054T>G	p.F352V	Missense	8/8	-	1
18-61323011-T-A	c.1053A>T	p.G351=	Synonymous	8/8	-	1
18-61323011-T-C	c.1053A>G	p.G351=	Synonymous	8/8	-	1
18-61323011-T-G	c.1053A>C	p.G351=	Synonymous	8/8	-	1
18-61323011-T-TGCA	c.1052_1053insTGC	p.G351_F352insA	MultiAAMissense	8/8	-	1
18-61323011-T-TGCCA	c.1052_1053insTGGC	p.F352Gfs*10	Frameshift	8/8	-	3
18-61323012-C-A	c.1052G>T	p.G351V	Missense	8/8	-	6
18-61323012-CCT-GCCACC	c.1050_1052delinsGGTGGC	p.G351delinsVA	MultiAAMissense	8/8	-	1
18-61323012-C-G	c.1052G>C	p.G351A	Missense	8/8	-	19
18-61323014-CT-C	c.1050del	p.G351Dfs*23	Frameshift	8/8	-	2
18-61323014-T-A	c.1050A>T	p.V350=	Synonymous	8/8	-	1
18-61323014-T-C	c.1050A>G	p.V350=	Synonymous	8/8	-	1
18-61323014-T-G	c.1050A>C	p.V350=	Synonymous	8/8	-	1
18-61323015-AC-TT	c.1048_1049delinsAA	p.V350K	Missense	8/8	-	1
18-61323015-A-G	c.1049T>C	p.V350A	Missense	8/8	-	1
18-61323016-C-CA	c.1047_1048insT	p.V350Cfs*11	Frameshift	8/8	-	1
18-61323016-C-G	c.1048G>C	p.V350L	Missense	8/8	-	1
18-61323016-C-T	c.1048G>A	p.V350I	Missense	8/8	-	3
18-61323012-CCTA-C	c.1049_1051del	p.V350del	InFrameDeletion	8/8	-	1
18-61323017-CT-C	c.1047del	p.V350*	Frameshift	8/8	-	1
18-61323019-C-A	c.1045G>T	p.V349L	Missense	8/8	-	3
18-61323020-A-AC	c.1043_1044insG	p.V349Cfs*12	Frameshift	8/8	-	1
18-61323021-G-C	c.1043C>G	p.A348G	Missense	8/8	-	1
18-61323022-C-A	c.1042G>T	p.A348S	Missense	8/8	-	1
18-61323022-C-T	c.1042G>A	p.A348T	Missense	8/8	-	3
18-61323023-G-A	c.1041C>T	p.T347=	Synonymous	8/8	-	3
18-61323023-G-C	c.1041C>G	p.T347=	Synonymous	8/8	-	1
18-61323023-G-T	c.1041C>A	p.T347=	Synonymous	8/8	-	1
18-61323027-G-A	c.1037C>T	p.A346V	Missense	8/8	-	1
18-61323027-G-C	c.1037C>G	p.A346G	Missense	8/8	-	1
18-61323027-G-T	c.1037C>A	p.A346D	Missense	8/8	-	1
18-61323030-G-A	c.1034C>T	p.A345V	Missense	8/8	-	1
18-61323033-G-A	c.1031C>T	p.A344V	Missense	8/8	-	2
18-61323037-C-T	c.1027G>A	p.A343T	Missense	8/8	-	1
18-61323038-T-A	c.1026A>T	p.E342D	Missense	8/8	-	1
18-61323038-T-C	c.1026A>G	p.E342=	Synonymous	8/8	-	1
18-61323038-T-G	c.1026A>C	p.E342D	Missense	8/8	-	1
18-61323039-T-C	c.1025A>G	p.E342G	Missense	8/8	-	1
18-61323039-T-G	c.1025A>C	p.E342A	Missense	8/8	-	1
18-61323040-C-T	c.1024G>A	p.E342K	Missense	8/8	-	1
18-61323041-TGC-CCA	c.1021_1023delinsTGG	p.A341W	Missense	8/8	-	1
18-61323042-GC-CT	c.1021_1022delinsAG	p.A341R	Missense	8/8	-	2
18-61323042-G-T	c.1022C>A	p.A341E	Missense	8/8	-	1
18-61323042-TGCTCCCTCCTCTGTAACCTCCACAAAGGCCTTGTGTAGGACTCCAGATAGCACGAGACC-T	c.964_1022del	p.G322Rfs*19	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	8/8	-	1
18-61323044-TCC-CCA	c.1018_1020delinsTGG	p.G340W	Missense	8/8	-	1
18-61323045-C-T	c.1019G>A	p.G340E	Missense	8/8	-	2
18-61323046-C-G	c.1018G>C	p.G340R	Missense	8/8	-	1
18-61323046-C-T	c.1018G>A	p.G340R	Missense	8/8	-	4
18-61323047-C-T	c.1017G>A	p.E339=	Synonymous	8/8	-	1
18-61323049-C-A	c.1015G>T	p.E339*	Nonsense	8/8	-	3
18-61323049-C-G	c.1015G>C	p.E339Q	Missense	8/8	-	1
18-61323049-C-T	c.1015G>A	p.E339K	Missense	8/8	-	3
18-61323050-C-T	c.1014G>A	p.E338=	Synonymous	8/8	-	2
18-61323052-C-G	c.1012G>C	p.E338Q	Missense	8/8	-	5
18-61323052-C-T	c.1012G>A	p.E338K	Missense	8/8	-	4
18-61323053-T-A	c.1011A>T	p.T337=	Synonymous	8/8	-	2
18-61323053-T-C	c.1011A>G	p.T337=	Synonymous	8/8	-	1
18-61323053-T-G	c.1011A>C	p.T337=	Synonymous	8/8	-	1
18-61323054-GT-CC	c.1009_1010delinsGG	p.T337G	Missense	8/8	-	1
18-61323055-T-C	c.1009A>G	p.T337A	Missense	8/8	-	1
18-61323056-A-G	c.1008T>C	p.V336=	Synonymous	8/8	-	1
18-61323056-A-T	c.1008T>A	p.V336=	Synonymous	8/8	-	2
18-61323057-A-C	c.1007T>G	p.V336G	Missense	8/8	-	1
18-61323064-C-A	c.1000G>T	p.V334L	Missense	8/8	-	1
18-61323064-C-T	c.1000G>A	p.V334M	Missense	8/8	-	1
18-61323068-G-A	c.996C>T	p.A332=	Synonymous	8/8	-	2
18-61323067-AG-A	c.996del	p.F333Lfs*17	Frameshift	8/8	-	1
18-61323069-G-A	c.995C>T	p.A332V	Missense	8/8	-	3
18-61323070-C-A	c.994G>T	p.A332S	Missense	8/8	-	1
18-61323071-C-A	c.993G>T	p.K331N	Missense	8/8	-	1
18-61323072-T-C	c.992A>G	p.K331R	Missense	8/8	-	1
18-61323075-T-C	c.989A>G	p.H330R	Missense	8/8	-	1
18-61323080-G-A	c.984C>T	p.V328=	Synonymous	8/8	-	1
18-61323080-G-C	c.984C>G	p.V328=	Synonymous	8/8	-	4
18-61323080-G-T	c.984C>A	p.V328=	Synonymous	8/8	-	1
18-61323084-C-G	c.980G>C	p.G327A	Missense	8/8	-	1
18-61323085-CCAGATAGCACGAG-C	c.967_979del	p.L323Efs*23	Frameshift	8/8	-	1
18-61323086-A-C	c.978T>G	p.S326=	Synonymous	8/8	-	1
18-61323086-AG-TT	c.977_978delinsAA	p.S326*	Nonsense	8/8	-	1
18-61323087-G-A	c.977C>T	p.S326F	Missense	8/8	-	8
18-61323087-G-C	c.977C>G	p.S326C	Missense	8/8	-	5
18-61323090-A-C	c.974T>G	p.L325R	Missense	8/8	-	1
18-61323094-C-T	c.970G>A	p.V324M	Missense	8/8	-	4
18-61323095-G-A	c.969C>T	p.L323=	Synonymous	8/8	-	4
18-61323095-G-C	c.969C>G	p.L323=	Synonymous	8/8	-	3
18-61323095-G-T	c.969C>A	p.L323=	Synonymous	8/8	-	3
18-61323096-A-G	c.968T>C	p.L323P	Missense	8/8	-	3
18-61323097-G-A	c.967C>T	p.L323F	Missense	8/8	-	6
18-61323099-C-A	c.965G>T	p.G322V	Missense	8/8	-	1
18-61323099-CC-GT	c.964_965delinsAC	p.G322T	Missense	8/8	-	1
18-61323100-C-A	c.964G>T	p.G322C	Missense	8/8	-	1
18-61323100-C-T	c.964G>A	p.G322S	Missense	8/8	-	4
18-61323101-G-A	c.963C>T	p.R321=	Synonymous	8/8	-	5
18-61323101-G-C	c.963C>G	p.R321=	Synonymous	8/8	-	2
18-61323101-G-T	c.963C>A	p.R321=	Synonymous	8/8	-	2
18-61323102-C-A	c.962G>T	p.R321L	Missense	8/8	-	1
18-61323102-C-T	c.962G>A	p.R321H	Missense	8/8	-	5
18-61323103-G-A	c.961C>T	p.R321C	Missense	8/8	-	2
18-61323103-G-C	c.961C>G	p.R321G	Missense	8/8	-	1
18-61323103-G-T	c.961C>A	p.R321S	Missense	8/8	-	1
18-61323104-G-A	c.960C>T	p.S320=	Synonymous	8/8	-	1
18-61323105-C-T	c.959G>A	p.S320N	Missense	8/8	-	1
18-61323106-T-A	c.958A>T	p.S320C	Missense	8/8	-	2
18-61323106-T-TA	c.957_958insT	p.S320*	Nonsense	8/8	-	1
18-61323108-C-G	c.956G>C	p.G319A	Missense	8/8	-	1
18-61323108-C-T	c.956G>A	p.G319E	Missense	8/8	-	4
18-61323106-TC-T	c.957del	p.S320Afs*30	Frameshift	8/8	-	1
18-61323109-C-A	c.955G>T	p.G319W	Missense	8/8	-	3
18-61323110-G-A	c.954C>T	p.T318=	Synonymous	8/8	-	2
18-61323111-G-A	c.953C>T	p.T318I	Missense	8/8	-	1
18-61323112-T-C	c.952A>G	p.T318A	Missense	8/8	-	1
18-61323113-C-T	c.951G>A	p.M317I	Missense	8/8	-	2
18-61323114-A-G	c.950T>C	p.M317T	Missense	8/8	-	1
18-61323115-T-A	c.949A>T	p.M317L	Missense	8/8	-	5
18-61323115-T-G	c.949A>C	p.M317L	Missense	8/8	-	1
18-61323120-G-A	c.944C>T	p.S315L	Missense	8/8	-	2
18-61323121-A-C	c.943T>G	p.S315A	Missense	8/8	-	1
18-61323124-G-T	c.940C>A	p.L314I	Missense	8/8	-	1
18-61323127-C-G	c.937G>C	p.D313H	Missense	8/8	-	1
18-61323129-G-C	c.935C>G	p.A312G	Missense	8/8	-	1
18-61323130-C-T	c.934G>A	p.A312T	Missense	8/8	-	2
18-61323133-C-A	c.931G>T	p.D311Y	Missense	8/8	-	1
18-61323133-C-T	c.931G>A	p.D311N	Missense	8/8	-	3
18-61323134-CC-GT	c.929_930delinsAC	p.G310D	Missense	8/8	-	1
18-61323134-C-T	c.930G>A	p.G310=	Synonymous	8/8	-	1
18-61323135-C-T	c.929G>A	p.G310E	Missense	8/8	-	3
18-61323138-T-C	c.926A>G	p.N309S	Missense	8/8	-	1
18-61323139-T-C	c.925A>G	p.N309D	Missense	8/8	-	1
18-61323140-G-A	c.924C>T	p.F308=	Synonymous	8/8	-	2
18-61323147-T-A	c.917A>T	p.D306V	Missense	8/8	-	1
18-61323147-T-C	c.917A>G	p.D306G	Missense	8/8	-	1
18-61323148-C-A	c.916G>T	p.D306Y	Missense	8/8	-	2
18-61323148-C-T	c.916G>A	p.D306N	Missense	8/8	-	2
18-61323149-C-T	c.915G>A	p.V305=	Synonymous	8/8	-	2
18-61323151-C-T	c.913G>A	p.V305M	Missense	8/8	-	1
18-61323152-C-A	c.912G>T	p.M304I	Missense	8/8	-	2
18-61323152-C-T	c.912G>A	p.M304I	Missense	8/8	-	7
18-61323153-A-T	c.911T>A	p.M304K	Missense	8/8	-	1
18-61323154-T-A	c.910A>T	p.M304L	Missense	8/8	-	1
18-61323154-T-G	c.910A>C	p.M304L	Missense	8/8	-	1
18-61323155-TCC-GCT	c.907_909delinsAGC	p.G303S	Missense	8/8	-	2
18-61323156-C-T	c.908G>A	p.G303E	Missense	8/8	-	4
18-61323157-C-G	c.907G>C	p.G303R	Missense	8/8	-	1
18-61323161-G-A	c.903C>T	p.T301=	Synonymous	8/8	-	1
18-61323161-G-C	c.903C>G	p.T301=	Synonymous	8/8	-	2
18-61323163-T-C	c.901A>G	p.T301A	Missense	8/8	-	1
18-61323171-G-A	c.893C>T	p.T298M	Missense	8/8	-	8
18-61323171-G-C	c.893C>G	p.T298R	Missense	8/8	-	1
18-61323171-G-T	c.893C>A	p.T298K	Missense	8/8	-	1
18-61323174-T-A	c.890A>T	p.D297V	Missense	8/8	-	1
18-61323175-C-A	c.889G>T	p.D297Y	Missense	8/8	-	1
18-61323175-C-T	c.889G>A	p.D297N	Missense	8/8	-	10
18-61323177-T-C	c.887A>G	p.K296R	Missense	8/8	-	1
18-61323177-T-G	c.887A>C	p.K296T	Missense	8/8	-	1
18-61323178-T-A	c.886A>T	p.K296*	Nonsense	8/8	-	1
18-61323181-G-C	c.883C>G	p.L295V	Missense	8/8	-	2
18-61323181-G-T	c.883C>A	p.L295I	Missense	8/8	-	1
18-61323182-G-A	c.882C>T	p.D294=	Synonymous	8/8	-	1
18-61323182-G-T	c.882C>A	p.D294E	Missense	8/8	-	2
18-61323183-T-C	c.881A>G	p.D294G	Missense	8/8	-	1
18-61323184-C-G	c.880G>C	p.D294H	Missense	8/8	-	3
18-61323184-C-T	c.880G>A	p.D294N	Missense	8/8	-	3
18-61323191-C-G	c.873G>C	p.E291D	Missense	8/8	-	1
18-61323191-C-T	c.873G>A	p.E291=	Synonymous	8/8	-	4
18-61323193-C-T	c.871G>A	p.E291K	Missense	8/8	-	1
18-61323196-C-T	c.868G>A	p.E290K	Missense	8/8	-	3
18-61323198-A-C	c.866T>G	p.V289G	Missense	8/8	-	1
18-61323199-C-G	c.865G>C	p.V289L	Missense	8/8	-	1
18-61323199-C-T	c.865G>A	p.V289M	Missense	8/8	-	1
18-61323199-CT-C	c.864del	p.V289Wfs*11	Frameshift	8/8	-	1
18-61323203-G-A	c.861C>T	p.F287=	Synonymous	8/8	-	1
18-61323207-C-G	c.857G>C	p.R286P	Missense	8/8	-	4
18-61323206-C-A	c.858G>T	p.R286=	Synonymous	8/8	-	2
18-61323206-C-G	c.858G>C	p.R286=	Synonymous	8/8	-	1
18-61323206-C-T	c.858G>A	p.R286=	Synonymous	8/8	-	1
18-61323208-CG-C	c.856del	p.R286Gfs*14	Frameshift	8/8	-	1
18-61323208-G-A	c.856C>T	p.R286W	Missense	8/8	-	3
18-61323208-G-T	c.856C>A	p.R286=	Synonymous	8/8	-	2
18-61323210-G-A	c.854C>T	p.P285L	Missense	8/8	-	2
18-61323211-G-C	c.853C>G	p.P285A	Missense	8/8	-	1
18-61323211-GGTAAGTGTAAATCGACACGTGTCTCTCTCATA-G	c.822_853del	p.M275Sfs*9	Frameshift	8/8	-	1
18-61323216-T-C	c.848A>G	p.H283R	Missense	8/8	-	2
18-61323214-AGT-A	c.848_849del	p.H283Lfs*11	Frameshift	8/8	-	1
18-61323217-G-A	c.847C>T	p.H283Y	Missense	8/8	-	1
18-61323221-A-C	c.843T>G	p.D281E	Missense	8/8	-	2
18-61323221-A-G	c.843T>C	p.D281=	Synonymous	8/8	-	1
18-61323221-A-T	c.843T>A	p.D281E	Missense	8/8	-	2
18-61323220-AATCG-A	c.840_843del	p.D281Yfs*18	Frameshift	8/8	-	1
18-61323222-T-C	c.842A>G	p.D281G	Missense	8/8	-	1
18-61323223-C-A	c.841G>T	p.D281Y	Missense	8/8	-	1
18-61323223-C-G	c.841G>C	p.D281H	Missense	8/8	-	2
18-61323223-C-T	c.841G>A	p.D281N	Missense	8/8	-	13
18-61323224-G-A	c.840C>T	p.V280=	Synonymous	8/8	-	3
18-61323224-G-T	c.840C>A	p.V280=	Synonymous	8/8	-	2
18-61323227-A-C	c.837T>G	p.R279=	Synonymous	8/8	-	1
18-61323227-ACG-CCA	c.835_837delinsTGG	p.R279W	Missense	8/8	-	1
18-61323227-AC-TT	c.836_837delinsAA	p.R279Q	Missense	8/8	-	1
18-61323227-A-G	c.837T>C	p.R279=	Synonymous	8/8	-	1
18-61323227-A-T	c.837T>A	p.R279=	Synonymous	8/8	-	1
18-61323228-C-G	c.836G>C	p.R279P	Missense	8/8	-	2
18-61323228-C-T	c.836G>A	p.R279H	Missense	8/8	-	6
18-61323229-G-A	c.835C>T	p.R279C	Missense	8/8	-	3
18-61323231-G-A	c.833C>T	p.T278I	Missense	8/8	-	1
18-61323234-T-C	c.830A>G	p.E277G	Missense	8/8	-	1
18-61323235-C-A	c.829G>T	p.E277*	Nonsense	8/8	-	1
18-61323236-T-A	c.828A>T	p.R276S	Missense	8/8	-	6
18-61323236-TCT-AAA	c.826_828delinsTTT	p.R276F	Missense	8/8	-	1
18-61323236-T-G	c.828A>C	p.R276S	Missense	8/8	-	4
18-61323237-CT-TG	c.826_827delinsCA	p.R276Q	Missense	8/8	-	1
18-61323238-T-C	c.826A>G	p.R276G	Missense	8/8	-	1
18-61323239-C-A	c.825G>T	p.M275I	Missense	8/8	-	1
18-61323239-C-G	c.825G>C	p.M275I	Missense	8/8	-	1
18-61323239-C-T	c.825G>A	p.M275I	Missense	8/8	-	1
18-61323240-A-AT	c.823dup	p.M275Nfs*20	Frameshift	8/8	-	1
18-61323245-C-T	c.819G>A	p.Q273=	Synonymous	8/8	-	3
18-61323247-G-A	c.817C>T	p.Q273*	Nonsense	8/8	-	3
18-61323250-A-G	c.814T>C	p.L272=	Synonymous	8/8	-	1
18-61323251-A-C	c.813T>G	p.S271R	Missense	8/8	-	1
18-61323251-A-T	c.813T>A	p.S271R	Missense	8/8	-	1
18-61323253-T-A	c.811A>T	p.S271C	Missense	8/8	-	1
18-61323253-T-G	c.811A>C	p.S271R	Missense	8/8	-	2
18-61323255-G-C	c.809C>G	p.T270R	Missense	8/8	-	1
18-61323257-C-T	c.807G>A	p.W269*	Nonsense	8/8	-	5
18-61323258-C-T	c.806G>A	p.W269*	Nonsense	8/8	-	5
18-61323259-A-G	c.805T>C	p.W269R	Missense	8/8	-	3
18-61323259-A-T	c.805T>A	p.W269R	Missense	8/8	-	7
18-61323262-C-A	c.802G>T	p.E268*	Nonsense	8/8	-	1
18-61323261-TC-T	c.802del	p.E268Nfs*8	Frameshift	8/8	-	1
18-61323263-C-A	c.801G>T	p.M267I	Missense	8/8	-	2
18-61323263-C-G	c.801G>C	p.M267I	Missense	8/8	-	2
18-61323263-C-T	c.801G>A	p.M267I	Missense	8/8	-	5
18-61323264-A-C	c.800T>G	p.M267R	Missense	8/8	-	3
18-61323266-C-G	c.798G>C	p.L266F	Missense	8/8	-	3
18-61323269-T-C	c.795A>G	p.K265=	Synonymous	8/8	-	2
18-61323272-C-A	c.792G>T	p.E264D	Missense	8/8	-	1
18-61323272-C-G	c.792G>C	p.E264D	Missense	8/8	-	1
18-61323273-T-A	c.791A>T	p.E264V	Missense	8/8	-	1
18-61323274-C-G	c.790G>C	p.E264Q	Missense	8/8	-	1
18-61323274-C-T	c.790G>A	p.E264K	Missense	8/8	-	2
18-61323276-G-C	c.788C>G	p.A263G	Missense	8/8	-	2
18-61323283-GT-G	c.780del	p.K260Nfs*7	Frameshift	8/8	-	1
18-61323289-C-A	c.775G>T	p.E259*	Nonsense	8/8	-	1
18-61323291-T-C	c.773A>G	p.E258G	Missense	8/8	-	3
18-61323292-C-A	c.772G>T	p.E258*	Nonsense	8/8	-	2
18-61323292-C-T	c.772G>A	p.E258K	Missense	8/8	-	3
18-61323294-A-C	c.770T>G	p.L257R	Missense	8/8	-	1
18-61323295-G-A	c.769C>T	p.L257F	Missense	8/8	-	4
18-61324033-T-C	c.768+32A>G	-	IntronicSNV	-	7/7	5
18-61324064-C-T	c.768+1G>A	-	IntronicSNV	-	7/7	1
18-61324065-C-A	c.768G>T	p.K256N	Missense	7/8	-	1
18-61324068-C-A	c.765G>T	p.Q255H	Missense	7/8	-	2
18-61324068-C-CA	c.764_765insT	p.Q255Hfs*4	Frameshift	7/8	-	1
18-61324068-C-G	c.765G>C	p.Q255H	Missense	7/8	-	1
18-61324071-G-A	c.762C>T	p.L254=	Synonymous	7/8	-	1
18-61324071-GAG-TTA	c.760_762delinsTAA	p.L254*	Nonsense	7/8	-	1
18-61324071-G-C	c.762C>G	p.L254=	Synonymous	7/8	-	1
18-61324071-G-T	c.762C>A	p.L254=	Synonymous	7/8	-	1
18-61324072-A-G	c.761T>C	p.L254P	Missense	7/8	-	1
18-61324073-G-A	c.760C>T	p.L254F	Missense	7/8	-	4
18-61324076-C-A	c.757G>T	p.G253C	Missense	7/8	-	4
18-61324079-C-T	c.754G>A	p.D252N	Missense	7/8	-	3
18-61324080-G-A	c.753C>T	p.I251=	Synonymous	7/8	-	4
18-61324080-G-T	c.753C>A	p.I251=	Synonymous	7/8	-	3
18-61324081-A-T	c.752T>A	p.I251N	Missense	7/8	-	1
18-61324081-AT-A	c.751del	p.I251Sfs*16	Frameshift	7/8	-	1
18-61324085-C-G	c.748G>C	p.E250Q	Missense	7/8	-	3
18-61324085-C-T	c.748G>A	p.E250K	Missense	7/8	-	15
18-61324087-T-A	c.746A>T	p.N249I	Missense	7/8	-	1
18-61324088-T-A	c.745A>T	p.N249Y	Missense	7/8	-	1
18-61324088-T-C	c.745A>G	p.N249D	Missense	7/8	-	1
18-61324090-G-A	c.743C>T	p.P248L	Missense	7/8	-	2
18-61324090-G-C	c.743C>G	p.P248R	Missense	7/8	-	1
18-61324091-G-A	c.742C>T	p.P248S	Missense	7/8	-	1
18-61324092-GCAGCAACACAATCAT-G	c.727_741del	p.M243_L247del	InFrameDeletion	7/8	-	1
18-61324097-A-C	c.736T>G	p.L246V	Missense	7/8	-	1
18-61324100-C-A	c.733G>T	p.V245L	Missense	7/8	-	1
18-61324101-A-C	c.732T>G	p.I244M	Missense	7/8	-	1
18-61324099-ACAAT-A	c.730_733del	p.I244Cfs*22	Frameshift	7/8	-	1
18-61324102-A-C	c.731T>G	p.I244S	Missense	7/8	-	1
18-61324102-A-G	c.731T>C	p.I244T	Missense	7/8	-	2
18-61324102-A-T	c.731T>A	p.I244N	Missense	7/8	-	1
18-61324103-T-C	c.730A>G	p.I244V	Missense	7/8	-	1
18-61324104-C-A	c.729G>T	p.M243I	Missense	7/8	-	2
18-61324104-C-G	c.729G>C	p.M243I	Missense	7/8	-	2
18-61324104-C-T	c.729G>A	p.M243I	Missense	7/8	-	6
18-61324104-TCATGCTTAGATCTTTGCCTTTGTA-T	c.706_729del	p.Y236_M243del	InFrameDeletion	7/8	-	1
18-61324107-G-C	c.726C>G	p.S242R	Missense	7/8	-	1
18-61324108-C-A	c.725G>T	p.S242I	Missense	7/8	-	1
18-61324108-C-T	c.725G>A	p.S242N	Missense	7/8	-	1
18-61324108-CT-AG	c.724_725inv	p.S242L	Missense	7/8	-	1
18-61324108-CT-C	c.724del	p.S242Afs*2	Frameshift	7/8	-	1
18-61324110-T-A	c.723A>T	p.L241=	Synonymous	7/8	-	1
18-61324110-T-C	c.723A>G	p.L241=	Synonymous	7/8	-	1
18-61324110-T-G	c.723A>C	p.L241=	Synonymous	7/8	-	1
18-61324112-G-A	c.721C>T	p.L241=	Synonymous	7/8	-	2
18-61324115-C-T	c.718G>A	p.D240N	Missense	7/8	-	2
18-61324117-T-C	c.716A>G	p.K239R	Missense	7/8	-	1
18-61324118-T-G	c.715A>C	p.K239Q	Missense	7/8	-	1
18-61324119-G-C	c.714C>G	p.G238=	Synonymous	7/8	-	1
18-61324120-C-A	c.713G>T	p.G238V	Missense	7/8	-	1
18-61324121-C-A	c.712G>T	p.G238C	Missense	7/8	-	1
18-61324122-T-A	c.711A>T	p.K237N	Missense	7/8	-	3
18-61324122-T-G	c.711A>C	p.K237N	Missense	7/8	-	2
18-61324123-T-C	c.710A>G	p.K237R	Missense	7/8	-	2
18-61324124-T-A	c.709A>T	p.K237*	Nonsense	7/8	-	1
18-61324126-TA-GT	c.706_707delinsAC	p.Y236T	Missense	7/8	-	1
18-61324126-T-C	c.707A>G	p.Y236C	Missense	7/8	-	4
18-61324130-G-A	c.703C>T	p.P235S	Missense	7/8	-	5
18-61324130-G-T	c.703C>A	p.P235T	Missense	7/8	-	1
18-61324134-T-C	c.699A>G	p.E233=	Synonymous	7/8	-	1
18-61324135-TC-GG	c.697_698delinsCC	p.E233P	Missense	7/8	-	2
18-61324136-C-T	c.697G>A	p.E233K	Missense	7/8	-	10
18-61324139-G-T	c.694C>A	p.L232M	Missense	7/8	-	2
18-61324141-A-T	c.692T>A	p.V231D	Missense	7/8	-	1
18-61324142-C-A	c.691G>T	p.V231F	Missense	7/8	-	1
18-61324142-C-T	c.691G>A	p.V231I	Missense	7/8	-	1
18-61324143-C-CTTAGG	c.689_690insCCTAA	p.K230Nfs*14	Frameshift	7/8	-	1
18-61324147-G-T	c.686C>A	p.A229D	Missense	7/8	-	2
18-61324149-C-A	c.684G>T	p.Q228H	Missense	7/8	-	1
18-61324149-C-G	c.684G>C	p.Q228H	Missense	7/8	-	1
18-61324151-G-A	c.682C>T	p.Q228*	Nonsense	7/8	-	1
18-61324152-T-A	c.681A>T	p.V227=	Synonymous	7/8	-	1
18-61324154-C-A	c.679G>T	p.V227L	Missense	7/8	-	1
18-61324154-C-G	c.679G>C	p.V227L	Missense	7/8	-	1
18-61324156-T-TG	c.676_677insC	p.D226Afs*25	Frameshift	7/8	-	1
18-61324157-C-A	c.676G>T	p.D226Y	Missense	7/8	-	1
18-61324157-C-T	c.676G>A	p.D226N	Missense	7/8	-	2
18-61324164-CG-AA	c.668_669delinsTT	p.S223F	Missense	7/8	-	1
18-61324165-G-A	c.668C>T	p.S223L	Missense	7/8	-	1
18-61324168-G-A	c.665C>T	p.A222V	Missense	7/8	-	1
18-61324174-T-C	c.659A>G	p.H220R	Missense	7/8	-	1
18-61324174-T-G	c.659A>C	p.H220P	Missense	7/8	-	1
18-61324175-G-A	c.658C>T	p.H220Y	Missense	7/8	-	5
18-61324176-A-G	c.657T>C	p.F219=	Synonymous	7/8	-	1
18-61324180-G-A	c.653C>T	p.S218F	Missense	7/8	-	1
18-61324183-G-A	c.650C>T	p.T217I	Missense	7/8	-	2
18-61324185-G-A	c.648C>T	p.Y216=	Synonymous	7/8	-	1
18-61324185-G-C	c.648C>G	p.Y216*	Nonsense	7/8	-	2
18-61324185-G-T	c.648C>A	p.Y216*	Nonsense	7/8	-	3
18-61324185-GTA-CTC	c.646_648delinsGAG	p.Y216E	Missense	7/8	-	1
18-61324186-T-A	c.647A>T	p.Y216F	Missense	7/8	-	1
18-61324188-T-A	c.645A>T	p.Q215H	Missense	7/8	-	2
18-61324191-CCT-ATG	c.640_642delinsCAT	p.R214H	Missense	7/8	-	1
18-61324192-C-A	c.641G>T	p.R214M	Missense	7/8	-	1
18-61324192-C-CT	c.640dup	p.R214Kfs*37	Frameshift	7/8	-	1
18-61324197-C-T	c.636G>A	p.M212I	Missense	7/8	-	6
18-61324200-C-A	c.633G>T	p.Q211H	Missense	7/8	-	3
18-61324200-C-G	c.633G>C	p.Q211H	Missense	7/8	-	5
18-61324202-G-T	c.631C>A	p.Q211K	Missense	7/8	-	1
18-61324206-G-A	c.627C>T	p.S209=	Synonymous	7/8	-	3
18-61324207-G-A	c.626C>T	p.S209F	Missense	7/8	-	2
18-61324207-G-C	c.626C>G	p.S209C	Missense	7/8	-	1
18-61324207-G-T	c.626C>A	p.S209Y	Missense	7/8	-	1
18-61324208-A-C	c.625T>G	p.S209A	Missense	7/8	-	1
18-61324209-C-G	c.624G>C	p.K208N	Missense	7/8	-	1
18-61324210-T-A	c.623A>T	p.K208M	Missense	7/8	-	2
18-61324210-T-C	c.623A>G	p.K208R	Missense	7/8	-	1
18-61324213-T-A	c.620A>T	p.Y207F	Missense	7/8	-	2
18-61324213-T-C	c.620A>G	p.Y207C	Missense	7/8	-	2
18-61324214-A-G	c.619T>C	p.Y207H	Missense	7/8	-	1
18-61324215-T-A	c.618A>T	p.T206=	Synonymous	7/8	-	1
18-61324215-T-C	c.618A>G	p.T206=	Synonymous	7/8	-	1
18-61324215-T-G	c.618A>C	p.T206=	Synonymous	7/8	-	1
18-61324499-A-G	c.612+5T>C	-	IntronicSNV	-	6/7	1
18-61324503-C-A	c.612+1G>T	-	IntronicSNV	-	6/7	1
18-61324504-C-T	c.612G>A	p.K204=	Synonymous	6/8	-	2
18-61324508-T-A	c.608A>T	p.N203I	Missense	6/8	-	1
18-61324509-T-C	c.607A>G	p.N203D	Missense	6/8	-	1
18-61324509-T-G	c.607A>C	p.N203H	Missense	6/8	-	3
18-61324510-T-A	c.606A>T	p.P202=	Synonymous	6/8	-	1
18-61324510-T-C	c.606A>G	p.P202=	Synonymous	6/8	-	1
18-61324510-T-G	c.606A>C	p.P202=	Synonymous	6/8	-	1
18-61324511-G-C	c.605C>G	p.P202R	Missense	6/8	-	1
18-61324511-GG-TA	c.604_605delinsTA	p.P202*	Nonsense	6/8	-	1
18-61324512-G-T	c.604C>A	p.P202T	Missense	6/8	-	1
18-61324513-C-T	c.603G>A	p.W201*	Nonsense	6/8	-	1
18-61324514-C-A	c.602G>T	p.W201L	Missense	6/8	-	1
18-61324514-C-CT	c.601_602insA	p.W201*	Nonsense	6/8	-	1
18-61324514-C-T	c.602G>A	p.W201*	Nonsense	6/8	-	2
18-61324515-A-C	c.601T>G	p.W201G	Missense	6/8	-	2
18-61324516-AA-TT	c.599_600inv	p.F200*	Nonsense	6/8	-	3
18-61324516-A-C	c.600T>G	p.F200L	Missense	6/8	-	2
18-61324515-AAAATTTTTCCTCTTTAGT-A	c.583_600del	p.T195_F200del	InFrameDeletion	6/8	-	1
18-61324517-A-G	c.599T>C	p.F200S	Missense	6/8	-	1
18-61324517-A-T	c.599T>A	p.F200Y	Missense	6/8	-	2
18-61324514-C-CA	c.601dup	p.W201Lfs*50	Frameshift	6/8	-	1
18-61324523-T-C	c.593A>G	p.E198G	Missense	6/8	-	1
18-61324524-C-A	c.592G>T	p.E198*	Nonsense	6/8	-	2
18-61324524-C-T	c.592G>A	p.E198K	Missense	6/8	-	12
18-61324525-C-A	c.591G>T	p.E197D	Missense	6/8	-	1
18-61324525-C-G	c.591G>C	p.E197D	Missense	6/8	-	1
18-61324527-C-G	c.589G>C	p.E197Q	Missense	6/8	-	2
18-61324532-G-C	c.584C>G	p.T195S	Missense	6/8	-	2
18-61324532-GT-CA	c.583_584delinsTG	p.T195C	Missense	6/8	-	1
18-61324533-T-A	c.583A>T	p.T195S	Missense	6/8	-	3
18-61324535-T-C	c.581A>G	p.D194G	Missense	6/8	-	1
18-61324536-C-A	c.580G>T	p.D194Y	Missense	6/8	-	1
18-61324536-C-T	c.580G>A	p.D194N	Missense	6/8	-	2
18-61324538-T-A	c.578A>T	p.E193V	Missense	6/8	-	1
18-61324538-T-C	c.578A>G	p.E193G	Missense	6/8	-	2
18-61324542-T-A	c.574A>T	p.K192*	Nonsense	6/8	-	1
18-61324547-A-C	c.569T>G	p.F190C	Missense	6/8	-	1
18-61324549-T-A	c.567A>T	p.K189N	Missense	6/8	-	1
18-61324551-TCTT-AGA	c.562_565delinsTCT	p.K188Sfs*25	Frameshift	6/8	-	1
18-61324552-C-A	c.564G>T	p.K188N	Missense	6/8	-	3
18-61324552-C-G	c.564G>C	p.K188N	Missense	6/8	-	1
18-61324553-T-G	c.563A>C	p.K188T	Missense	6/8	-	1
18-61324552-CT-C	c.563del	p.K188Rfs*25	Frameshift	6/8	-	1
18-61324557-C-G	c.559G>C	p.E187Q	Missense	6/8	-	1
18-61324559-C-A	c.557G>T	p.W186L	Missense	6/8	-	1
18-61324562-T-C	c.554A>G	p.Q185R	Missense	6/8	-	1
18-61324563-G-A	c.553C>T	p.Q185*	Nonsense	6/8	-	1
18-61324566-C-A	c.550G>T	p.G184W	Missense	6/8	-	1
18-61324566-C-G	c.550G>C	p.G184R	Missense	6/8	-	1
18-61324566-C-T	c.550G>A	p.G184R	Missense	6/8	-	1
18-61324567-T-A	c.549A>T	p.K183N	Missense	6/8	-	1
18-61324567-T-G	c.549A>C	p.K183N	Missense	6/8	-	2
18-61324568-T-C	c.548A>G	p.K183R	Missense	6/8	-	1
18-61324568-T-G	c.548A>C	p.K183T	Missense	6/8	-	1
18-61324569-T-C	c.547A>G	p.K183E	Missense	6/8	-	2
18-61324570-G-C	c.546C>G	p.F182L	Missense	6/8	-	1
18-61324570-TGAAATAGATTGCGTTCAC-T	c.529_546del	p.V177_F182del	InFrameDeletion	6/8	-	1
18-61324571-A-C	c.545T>G	p.F182C	Missense	6/8	-	1
18-61324572-A-AG	c.543_544insC	p.F182Lfs*10	Frameshift	6/8	-	1
18-61324574-T-C	c.542A>G	p.Y181C	Missense	6/8	-	3
18-61324575-A-G	c.541T>C	p.Y181H	Missense	6/8	-	2
18-61324576-G-C	c.540C>G	p.I180M	Missense	6/8	-	4
18-61324581-C-T	c.535G>A	p.A179T	Missense	6/8	-	2
18-61324582-G-A	c.534C>T	p.N178=	Synonymous	6/8	-	1
18-61324582-G-T	c.534C>A	p.N178K	Missense	6/8	-	1
18-61324582-GT-G	c.533del	p.N178Tfs*35	Frameshift	6/8	-	1
18-61324585-C-T	c.531G>A	p.V177=	Synonymous	6/8	-	1
18-61324591-AAC-CAT	c.523_525delinsATG	p.V175M	Missense	6/8	-	1
18-61324593-C-T	c.523G>A	p.V175I	Missense	6/8	-	1
18-61324595-CAA-C	c.520_521del	p.L174Gfs*17	Frameshift	6/8	-	1
18-61324596-A-T	c.520T>A	p.L174M	Missense	6/8	-	1
18-61324597-T-C	c.519A>G	p.T173=	Synonymous	6/8	-	1
18-61324598-G-T	c.518C>A	p.T173K	Missense	6/8	-	1
18-61324600-G-A	c.516C>T	p.T172=	Synonymous	6/8	-	1
18-61324600-G-C	c.516C>G	p.T172=	Synonymous	6/8	-	1
18-61324601-GT-TC	c.514_515delinsGA	p.T172D	Missense	6/8	-	1
18-61324602-T-C	c.514A>G	p.T172A	Missense	6/8	-	2
18-61324603-TA-T	c.513del	p.N171Kfs*7	Frameshift	6/8	-	1
18-61324605-T-C	c.511A>G	p.N171D	Missense	6/8	-	1
18-61324605-T-G	c.511A>C	p.N171H	Missense	6/8	-	2
18-61324611-C-G	c.505G>C	p.G169R	Missense	6/8	-	1
18-61324612-A-C	c.504T>G	p.I168M	Missense	6/8	-	1
18-61324614-T-A	c.502A>T	p.I168F	Missense	6/8	-	2
18-61324614-T-C	c.502A>G	p.I168V	Missense	6/8	-	1
18-61324616-T-G	c.500A>C	p.N167T	Missense	6/8	-	1
18-61324616-TT-AA	c.499_500inv	p.N167F	Missense	6/8	-	1
18-61324620-C-G	c.496G>C	p.G166R	Missense	6/8	-	1
18-61324621-T-A	c.495A>T	p.E165D	Missense	6/8	-	2
18-61324621-T-C	c.495A>G	p.E165=	Synonymous	6/8	-	1
18-61324621-T-G	c.495A>C	p.E165D	Missense	6/8	-	1
18-61324623-C-T	c.493G>A	p.E165K	Missense	6/8	-	1
18-61324624-AG-TT	c.491_492delinsAA	p.P164Q	Missense	6/8	-	1
18-61324625-G-T	c.491C>A	p.P164H	Missense	6/8	-	1
18-61324626-G-A	c.490C>T	p.P164S	Missense	6/8	-	9
18-61324626-G-T	c.490C>A	p.P164T	Missense	6/8	-	1
18-61324628-A-T	c.488T>A	p.I163N	Missense	6/8	-	4
18-61324628-AT-GC	c.487_488delinsGC	p.I163A	Missense	6/8	-	1
18-61324629-T-A	c.487A>T	p.I163F	Missense	6/8	-	2
18-61324630-T-A	c.486A>T	p.L162=	Synonymous	6/8	-	1
18-61324630-T-C	c.486A>G	p.L162=	Synonymous	6/8	-	1
18-61324630-T-G	c.486A>C	p.L162=	Synonymous	6/8	-	1
18-61324632-G-A	c.484C>T	p.L162=	Synonymous	6/8	-	1
18-61324632-G-T	c.484C>A	p.L162I	Missense	6/8	-	3
18-61324633-G-A	c.483C>T	p.N161=	Synonymous	6/8	-	1
18-61324633-G-C	c.483C>G	p.N161K	Missense	6/8	-	1
18-61324633-G-T	c.483C>A	p.N161K	Missense	6/8	-	1
18-61324635-T-C	c.481A>G	p.N161D	Missense	6/8	-	1
18-61324637-TT-GC	c.478_479delinsGC	p.K160A	Missense	6/8	-	1
18-61324639-A-G	c.477T>C	p.I159=	Synonymous	6/8	-	1
18-61324639-A-T	c.477T>A	p.I159=	Synonymous	6/8	-	1
18-61324641-T-A	c.475A>T	p.I159F	Missense	6/8	-	5
18-61324641-T-C	c.475A>G	p.I159V	Missense	6/8	-	1
18-61324642-TTTTTTCTGCAAGGGAAAGAATAAAAGAGTCTTTTACACAAGCTACAAATGGCTTGTCTG-T	c.470-54_474del	-	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	6/8	5/7	1
18-61324645-T-C	c.471A>G	p.E157=	Synonymous	6/8	-	1
18-61324640-AT-A	c.475del	p.I159Lfs*4	Frameshift	6/8	-	1
18-61324852-G-A	c.470-206C>T	-	IntronicSNV	-	5/7	1
18-61324852-G-T	c.470-206C>A	-	IntronicSNV	-	5/7	1
18-61325745-A-G	c.469+2T>C	-	IntronicSNV	-	5/7	1
18-61325747-C-A	c.469G>T	p.E157*	Nonsense	5/8	-	6
18-61325747-C-T	c.469G>A	p.E157K	Missense	5/8	-	1
18-61325747-C-CA	c.468dup	p.E157*	SpliceDonorInsertion	5/8	-	1
18-61325748-AT-A	c.467del	p.N156Mfs*7	Frameshift	5/8	-	1
18-61325751-C-A	c.465G>T	p.T155=	Synonymous	5/8	-	2
18-61325751-C-G	c.465G>C	p.T155=	Synonymous	5/8	-	1
18-61325751-C-T	c.465G>A	p.T155=	Synonymous	5/8	-	5
18-61325752-CG-C	c.464del	p.T155Rfs*8	Frameshift	5/8	-	1
18-61325752-G-T	c.464C>A	p.T155K	Missense	5/8	-	1
18-61325753-T-A	c.463A>T	p.T155S	Missense	5/8	-	1
18-61325753-T-C	c.463A>G	p.T155A	Missense	5/8	-	1
18-61325753-T-G	c.463A>C	p.T155P	Missense	5/8	-	3
18-61325754-T-C	c.462A>G	p.Q154=	Synonymous	5/8	-	1
18-61325755-T-A	c.461A>T	p.Q154L	Missense	5/8	-	2
18-61325756-G-A	c.460C>T	p.Q154*	Nonsense	5/8	-	1
18-61325757-GA-G	c.459del	p.Q154Kfs*9	Frameshift	5/8	-	1
18-61325758-C-CT	c.457dup	p.S153Kfs*5	Frameshift	5/8	-	2
18-61325758-CT-C	c.457del	p.S153Vfs*10	Frameshift	5/8	-	1
18-61325762-C-A	c.454G>T	p.E152*	Nonsense	5/8	-	1
18-61325765-C-A	c.451G>T	p.V151L	Missense	5/8	-	1
18-61325765-C-T	c.451G>A	p.V151M	Missense	5/8	-	1
18-61325764-AC-A	c.451del	p.V151Wfs*12	Frameshift	5/8	-	1
18-61325768-A-G	c.448T>C	p.W150R	Missense	5/8	-	1
18-61325768-A-T	c.448T>A	p.W150R	Missense	5/8	-	1
18-61325771-A-C	c.445T>G	p.S149A	Missense	5/8	-	1
18-61325772-G-C	c.444C>G	p.N148K	Missense	5/8	-	1
18-61325772-G-T	c.444C>A	p.N148K	Missense	5/8	-	2
18-61325773-T-C	c.443A>G	p.N148S	Missense	5/8	-	2
18-61325776-A-G	c.440T>C	p.I147T	Missense	5/8	-	1
18-61325777-T-C	c.439A>G	p.I147V	Missense	5/8	-	1
18-61325778-C-A	c.438G>T	p.K146N	Missense	5/8	-	3
18-61325778-C-G	c.438G>C	p.K146N	Missense	5/8	-	2
18-61325778-C-CT	c.437dup	p.I147Dfs*2	Frameshift	5/8	-	1
18-61325780-T-C	c.436A>G	p.K146E	Missense	5/8	-	2
18-61325783-T-C	c.433A>G	p.K145E	Missense	5/8	-	1
18-61325785-C-A	c.431G>T	p.R144L	Missense	5/8	-	1
18-61325785-C-T	c.431G>A	p.R144Q	Missense	5/8	-	11
18-61325784-T-A	c.432A>T	p.R144=	Synonymous	5/8	-	1
18-61325784-T-C	c.432A>G	p.R144=	Synonymous	5/8	-	2
18-61325784-T-G	c.432A>C	p.R144=	Synonymous	5/8	-	1
18-61325786-G-A	c.430C>T	p.R144*	Nonsense	5/8	-	4
18-61325786-G-T	c.430C>A	p.R144=	Synonymous	5/8	-	2
18-61325788-C-G	c.428G>C	p.S143T	Missense	5/8	-	3
18-61325788-CT-GC	c.427_428delinsGC	p.S143A	Missense	5/8	-	1
18-61325788-CT-GG	c.427_428delinsCC	p.S143P	Missense	5/8	-	1
18-61325790-T-A	c.426A>T	p.E142D	Missense	5/8	-	1
18-61325790-T-G	c.426A>C	p.E142D	Missense	5/8	-	1
18-61325791-TC-GA	c.424_425inv	p.E142S	Missense	5/8	-	3
18-61325794-TC-AT	c.421_422delinsAT	p.E141I	Missense	5/8	-	1
18-61325795-C-T	c.421G>A	p.E141K	Missense	5/8	-	4
18-61325797-G-A	c.419C>T	p.P140L	Missense	5/8	-	3
18-61325798-G-A	c.418C>T	p.P140S	Missense	5/8	-	3
18-61325798-G-T	c.418C>A	p.P140T	Missense	5/8	-	1
18-61325801-C-A	c.415G>T	p.A139S	Missense	5/8	-	1
18-61325801-C-T	c.415G>A	p.A139T	Missense	5/8	-	1
18-61325802-CA-C	c.414del	p.N138Kfs*25	Frameshift	5/8	-	1
18-61325805-TGC-GTT	c.409_411delinsAAC	p.A137N	Missense	5/8	-	1
18-61325807-C-G	c.409G>C	p.A137P	Missense	5/8	-	1
18-61325808-A-C	c.408T>G	p.F136L	Missense	5/8	-	1
18-61325808-A-T	c.408T>A	p.F136L	Missense	5/8	-	1
18-61325810-A-G	c.406T>C	p.F136L	Missense	5/8	-	1
18-61325811-A-C	c.405T>G	p.D135E	Missense	5/8	-	2
18-61325811-A-T	c.405T>A	p.D135E	Missense	5/8	-	2
18-61325812-T-G	c.404A>C	p.D135A	Missense	5/8	-	1
18-61325815-AC-GT	c.400_401inv	p.V134T	Missense	5/8	-	1
18-61325815-A-G	c.401T>C	p.V134A	Missense	5/8	-	1
18-61325816-C-T	c.400G>A	p.V134I	Missense	5/8	-	1
18-61325818-G-A	c.398C>T	p.S133F	Missense	5/8	-	3
18-61325821-T-C	c.395A>G	p.E132G	Missense	5/8	-	1
18-61325824-A-C	c.392T>G	p.V131G	Missense	5/8	-	1
18-61325824-A-T	c.392T>A	p.V131E	Missense	5/8	-	1
18-61325825-C-T	c.391G>A	p.V131M	Missense	5/8	-	1
18-61325827-C-T	c.389G>A	p.S130N	Missense	5/8	-	1
18-61325828-T-A	c.388A>T	p.S130C	Missense	5/8	-	1
18-61325828-T-C	c.388A>G	p.S130G	Missense	5/8	-	1
18-61325829-TGGTC-T	c.384_387del	p.T129Vfs*33	Frameshift	5/8	-	1
18-61325830-G-C	c.386C>G	p.T129S	Missense	5/8	-	8
18-61325831-T-A	c.385A>T	p.T129S	Missense	5/8	-	6
18-61325835-G-A	c.381C>T	p.Y127=	Synonymous	5/8	-	1
18-61325839-A-C	c.377T>G	p.F126C	Missense	5/8	-	3
18-61325843-T-A	c.373A>T	p.K125*	Nonsense	5/8	-	1
18-61325844-C-T	c.372G>A	p.K124=	Synonymous	5/8	-	3
18-61325845-T-G	c.371A>C	p.K124T	Missense	5/8	-	1
18-61325846-T-A	c.370A>T	p.K124*	Nonsense	5/8	-	1
18-61325846-T-C	c.370A>G	p.K124E	Missense	5/8	-	1
18-61325846-T-G	c.370A>C	p.K124Q	Missense	5/8	-	1
18-61325847-G-A	c.369C>T	p.I123=	Synonymous	5/8	-	1
18-61325847-G-T	c.369C>A	p.I123=	Synonymous	5/8	-	1
18-61325848-GA-G	c.368del	p.I123Tfs*40	Frameshift	5/8	-	1
18-61325849-T-C	c.367A>G	p.I123V	Missense	5/8	-	1
18-61325850-G-A	c.366C>T	p.A122=	Synonymous	5/8	-	1
18-61325850-G-C	c.366C>G	p.A122=	Synonymous	5/8	-	1
18-61325850-G-T	c.366C>A	p.A122=	Synonymous	5/8	-	1
18-61325851-G-A	c.365C>T	p.A122V	Missense	5/8	-	4
18-61325851-G-T	c.365C>A	p.A122D	Missense	5/8	-	1
18-61325852-C-T	c.364G>A	p.A122T	Missense	5/8	-	3
18-61325855-C-A	c.361G>T	p.D121Y	Missense	5/8	-	3
18-61325855-C-T	c.361G>A	p.D121N	Missense	5/8	-	1
18-61325856-TAA-ATG	c.358_360delinsCAT	p.L120H	Missense	5/8	-	1
18-61325859-A-AT	c.356dup	p.Y119*	Nonsense	5/8	-	1
18-61325864-C-T	c.352G>A	p.E118K	Missense	5/8	-	9
18-61325905-T-A	c.352-41A>T	-	IntronicSNV	-	4/7	10
18-61325905-T-G	c.352-41A>C	-	IntronicSNV	-	4/7	10
18-61326505-T-A	c.351+128A>T	-	IntronicSNV	-	4/7	6
18-61326538-G-A	c.351+95C>T	-	IntronicSNV	-	4/7	1
18-61326597-A-C	c.351+36T>G	-	IntronicSNV	-	4/7	10
18-61326597-A-G	c.351+36T>C	-	IntronicSNV	-	4/7	8
18-61326597-A-T	c.351+36T>A	-	IntronicSNV	-	4/7	8
18-61326602-A-C	c.351+31T>G	-	IntronicSNV	-	4/7	7
18-61326602-A-G	c.351+31T>C	-	IntronicSNV	-	4/7	9
18-61326609-T-A	c.351+24A>T	-	IntronicSNV	-	4/7	6
18-61326609-T-C	c.351+24A>G	-	IntronicSNV	-	4/7	6
18-61326609-T-G	c.351+24A>C	-	IntronicSNV	-	4/7	8
18-61326628-A-T	c.351+5T>A	-	IntronicSNV	-	4/7	2
18-61326628-A-AT	c.351+4dup	-	IntronicInsertion	-	4/7	11
18-61326630-T-TC	c.351+2_351+3insG	-	IntronicInsertion	-	4/7	1
18-61326631-A-T	c.351+2T>A	-	IntronicSNV	-	4/7	1
18-61326632-C-A	c.351+1G>T	-	IntronicSNV	-	4/7	1
18-61326633-C-T	c.351G>A	p.Q117=	Synonymous	4/8	-	1
18-61326636-T-C	c.348A>G	p.L116=	Synonymous	4/8	-	2
18-61326638-A-G	c.346T>C	p.L116=	Synonymous	4/8	-	1
18-61326641-A-AG	c.342_343insC	p.F115Lfs*21	Frameshift	4/8	-	1
18-61326642-T-A	c.342A>T	p.L114=	Synonymous	4/8	-	1
18-61326642-T-C	c.342A>G	p.L114=	Synonymous	4/8	-	1
18-61326642-T-G	c.342A>C	p.L114=	Synonymous	4/8	-	1
18-61326644-G-A	c.340C>T	p.L114=	Synonymous	4/8	-	3
18-61326643-A-T	c.341T>A	p.L114Q	Missense	4/8	-	1
18-61326646-T-A	c.338A>T	p.Y113F	Missense	4/8	-	1
18-61326647-A-G	c.337T>C	p.Y113H	Missense	4/8	-	1
18-61326648-C-A	c.336G>T	p.T112=	Synonymous	4/8	-	1
18-61326648-C-CT	c.335_336insA	p.Y113Vfs*23	Frameshift	4/8	-	1
18-61326648-C-G	c.336G>C	p.T112=	Synonymous	4/8	-	1
18-61326648-C-T	c.336G>A	p.T112=	Synonymous	4/8	-	4
18-61326649-G-A	c.335C>T	p.T112M	Missense	4/8	-	2
18-61326650-T-A	c.334A>T	p.T112S	Missense	4/8	-	1
18-61326650-T-C	c.334A>G	p.T112A	Missense	4/8	-	1
18-61326650-T-G	c.334A>C	p.T112P	Missense	4/8	-	1
18-61326651-T-A	c.333A>T	p.K111N	Missense	4/8	-	1
18-61326651-T-C	c.333A>G	p.K111=	Synonymous	4/8	-	2
18-61326651-T-G	c.333A>C	p.K111N	Missense	4/8	-	2
18-61326652-T-A	c.332A>T	p.K111I	Missense	4/8	-	1
18-61326652-T-C	c.332A>G	p.K111R	Missense	4/8	-	1
18-61326653-T-C	c.331A>G	p.K111E	Missense	4/8	-	1
18-61326656-C-T	c.328G>A	p.E110K	Missense	4/8	-	6
18-61326658-C-A	c.326G>T	p.G109V	Missense	4/8	-	2
18-61326658-C-T	c.326G>A	p.G109E	Missense	4/8	-	1
18-61326659-C-A	c.325G>T	p.G109*	Nonsense	4/8	-	3
18-61326659-C-G	c.325G>C	p.G109R	Missense	4/8	-	3
18-61326659-C-T	c.325G>A	p.G109R	Missense	4/8	-	5
18-61326660-G-A	c.324C>T	p.F108=	Synonymous	4/8	-	1
18-61326663-G-A	c.321C>T	p.L107=	Synonymous	4/8	-	1
18-61326664-AG-CT	c.319_320inv	p.L107S	Missense	4/8	-	1
18-61326665-G-A	c.319C>T	p.L107F	Missense	4/8	-	1
18-61326666-C-T	c.318G>A	p.K106=	Synonymous	4/8	-	1
18-61326667-TT-CA	c.316_317delinsTG	p.K106W	Missense	4/8	-	1
18-61326671-T-C	c.313A>G	p.N105D	Missense	4/8	-	2
18-61326675-G-A	c.309C>T	p.I103=	Synonymous	4/8	-	5
18-61326675-G-T	c.309C>A	p.I103=	Synonymous	4/8	-	2
18-61326678-C-T	c.306G>A	p.K102=	Synonymous	4/8	-	2
18-61326679-T-C	c.305A>G	p.K102R	Missense	4/8	-	2
18-61326681-C-T	c.303G>A	p.L101=	Synonymous	4/8	-	2
18-61326682-A-G	c.302T>C	p.L101P	Missense	4/8	-	1
18-61326683-G-C	c.301C>G	p.L101V	Missense	4/8	-	4
18-61326684-GCTC-G	c.298_300del	p.E100del	InFrameDeletion	4/8	-	1
18-61326686-C-A	c.298G>T	p.E100*	Nonsense	4/8	-	2
18-61326686-C-T	c.298G>A	p.E100K	Missense	4/8	-	5
18-61326688-T-A	c.296A>T	p.Y99F	Missense	4/8	-	1
18-61326688-TA-GC	c.295_296delinsGC	p.Y99A	Missense	4/8	-	1
18-61326688-T-C	c.296A>G	p.Y99C	Missense	4/8	-	1
18-61326690-T-A	c.294A>T	p.A98=	Synonymous	4/8	-	1
18-61326690-T-C	c.294A>G	p.A98=	Synonymous	4/8	-	1
18-61326690-T-G	c.294A>C	p.A98=	Synonymous	4/8	-	1
18-61326690-TGC-AAA	c.292_294delinsTTT	p.A98F	Missense	4/8	-	1
18-61326690-TG-GT	c.293_294delinsAC	p.A98D	Missense	4/8	-	1
18-61326691-G-T	c.293C>A	p.A98E	Missense	4/8	-	1
18-61326693-A-G	c.291T>C	p.D97=	Synonymous	4/8	-	1
18-61326695-C-T	c.289G>A	p.D97N	Missense	4/8	-	3
18-61326697-G-C	c.287C>G	p.T96S	Missense	4/8	-	1
18-61326697-GT-TG	c.286_287delinsCA	p.T96H	Missense	4/8	-	1
18-61326698-T-A	c.286A>T	p.T96S	Missense	4/8	-	1
18-61326698-T-C	c.286A>G	p.T96A	Missense	4/8	-	6
18-61326699-G-A	c.285C>T	p.S95=	Synonymous	4/8	-	2
18-61326699-G-C	c.285C>G	p.S95=	Synonymous	4/8	-	1
18-61326699-G-T	c.285C>A	p.S95=	Synonymous	4/8	-	1
18-61326700-G-A	c.284C>T	p.S95F	Missense	4/8	-	3
18-61326703-T-C	c.281A>G	p.K94R	Missense	4/8	-	1
18-61326705-G-T	c.279C>A	p.N93K	Missense	4/8	-	1
18-61326711-T-C	c.273A>G	p.E91=	Synonymous	4/8	-	1
18-61326713-C-G	c.271G>C	p.E91Q	Missense	4/8	-	1
18-61326713-C-T	c.271G>A	p.E91K	Missense	4/8	-	1
18-61326714-AG-CA	c.269_270delinsTG	p.T90M	Missense	4/8	-	2
18-61326715-G-A	c.269C>T	p.T90I	Missense	4/8	-	1
18-61326715-G-T	c.269C>A	p.T90N	Missense	4/8	-	1
18-61326722-G-T	c.262C>A	p.L88I	Missense	4/8	-	2
18-61326723-C-A	c.261G>T	p.K87N	Missense	4/8	-	1
18-61326723-C-G	c.261G>C	p.K87N	Missense	4/8	-	1
18-61326724-T-G	c.260A>C	p.K87T	Missense	4/8	-	1
18-61326724-TT-GC	c.259_260delinsGC	p.K87A	Missense	4/8	-	1
18-61326725-T-A	c.259A>T	p.K87*	Nonsense	4/8	-	1
18-61326727-T-C	c.257A>G	p.Q86R	Missense	4/8	-	2
18-61326728-GA-G	c.255del	p.Q86Kfs*4	Frameshift	4/8	-	1
18-61326733-T-C	c.251A>G	p.Q84R	Missense	4/8	-	1
18-61326734-G-T	c.250C>A	p.Q84K	Missense	4/8	-	1
18-61326735-G-A	c.249C>T	p.H83=	Synonymous	4/8	-	1
18-61326737-G-A	c.247C>T	p.H83Y	Missense	4/8	-	4
18-61326739-T-A	c.245A>T	p.H82L	Missense	4/8	-	1
18-61326739-T-C	c.245A>G	p.H82R	Missense	4/8	-	1
18-61326740-G-A	c.244C>T	p.H82Y	Missense	4/8	-	3
18-61326740-G-T	c.244C>A	p.H82N	Missense	4/8	-	1
18-61326743-C-T	c.241G>A	p.V81I	Missense	4/8	-	1
18-61326746-T-C	c.238A>G	p.N80D	Missense	4/8	-	1
18-61326746-T-G	c.238A>C	p.N80H	Missense	4/8	-	1
18-61326748-C-G	c.236G>C	p.G79A	Missense	4/8	-	3
18-61326748-C-T	c.236G>A	p.G79E	Missense	4/8	-	7
18-61326749-C-A	c.235G>T	p.G79*	Nonsense	4/8	-	1
18-61326749-C-G	c.235G>C	p.G79R	Missense	4/8	-	1
18-61326749-C-T	c.235G>A	p.G79R	Missense	4/8	-	1
18-61326750-T-A	c.234A>T	p.S78=	Synonymous	4/8	-	1
18-61326750-T-C	c.234A>G	p.S78=	Synonymous	4/8	-	1
18-61326750-T-G	c.234A>C	p.S78=	Synonymous	4/8	-	1
18-61326750-TG-AA	c.233_234delinsTT	p.S78F	Missense	4/8	-	1
18-61326751-G-A	c.233C>T	p.S78L	Missense	4/8	-	1
18-61326751-GA-CC	c.232_233delinsGG	p.S78G	Missense	4/8	-	1
18-61326753-CCT-ACA	c.229_231delinsTGT	p.R77C	Missense	4/8	-	1
18-61326754-C-T	c.230G>A	p.R77K	Missense	4/8	-	1
18-61326754-CT-AG	c.229_230inv	p.R77L	Missense	4/8	-	1
18-61326754-CT-GG	c.229_230delinsCC	p.R77P	Missense	4/8	-	1
18-61326756-A-C	c.228T>G	p.D76E	Missense	4/8	-	1
18-61326756-A-G	c.228T>C	p.D76=	Synonymous	4/8	-	1
18-61326756-A-T	c.228T>A	p.D76E	Missense	4/8	-	1
18-61326757-TC-CA	c.226_227delinsTG	p.D76C	Missense	4/8	-	1
18-61326758-C-A	c.226G>T	p.D76Y	Missense	4/8	-	1
18-61326758-C-T	c.226G>A	p.D76N	Missense	4/8	-	1
18-61326759-A-C	c.225T>G	p.V75=	Synonymous	4/8	-	2
18-61326759-A-G	c.225T>C	p.V75=	Synonymous	4/8	-	2
18-61326759-A-T	c.225T>A	p.V75=	Synonymous	4/8	-	2
18-61326760-A-G	c.224T>C	p.V75A	Missense	4/8	-	1
18-61327951-T-G	c.222+83A>C	-	IntronicSNV	-	3/7	1
18-61327955-T-G	c.222+79A>C	-	IntronicSNV	-	3/7	1
18-61327976-G-A	c.222+58C>T	-	IntronicSNV	-	3/7	1
18-61327976-G-T	c.222+58C>A	-	IntronicSNV	-	3/7	1
18-61328020-G-A	c.222+14C>T	-	IntronicSNV	-	3/7	1
18-61328033-C-T	c.222+1G>A	-	IntronicSNV	-	3/7	2
18-61328034-CATGATATGTTGCAGCTTTTCCTGTGGTGTT-C	c.193_222del	p.N65_H74del	SpliceDonorDeletion	3/8	-	1
18-61328036-G-A	c.220C>T	p.H74Y	Missense	3/8	-	1
18-61328036-G-T	c.220C>A	p.H74N	Missense	3/8	-	3
18-61328037-A-G	c.219T>C	p.Y73=	Synonymous	3/8	-	1
18-61328038-T-C	c.218A>G	p.Y73C	Missense	3/8	-	4
18-61328040-TGT-ATG	c.214_216delinsCAT	p.T72H	Missense	3/8	-	1
18-61328041-G-A	c.215C>T	p.T72I	Missense	3/8	-	3
18-61328041-G-C	c.215C>G	p.T72R	Missense	3/8	-	1
18-61328041-G-T	c.215C>A	p.T72K	Missense	3/8	-	3
18-61328043-T-A	c.213A>T	p.A71=	Synonymous	3/8	-	1
18-61328043-T-C	c.213A>G	p.A71=	Synonymous	3/8	-	1
18-61328043-T-G	c.213A>C	p.A71=	Synonymous	3/8	-	1
18-61328043-TG-GT	c.212_213delinsAC	p.A71D	Missense	3/8	-	1
18-61328044-G-A	c.212C>T	p.A71V	Missense	3/8	-	1
18-61328044-G-T	c.212C>A	p.A71E	Missense	3/8	-	1
18-61328046-A-C	c.210T>G	p.A70=	Synonymous	3/8	-	1
18-61328046-A-G	c.210T>C	p.A70=	Synonymous	3/8	-	1
18-61328046-AG-CT	c.209_210inv	p.A70E	Missense	3/8	-	1
18-61328046-A-T	c.210T>A	p.A70=	Synonymous	3/8	-	1
18-61328047-GC-CA	c.208_209delinsTG	p.A70C	Missense	3/8	-	1
18-61328048-C-T	c.208G>A	p.A70T	Missense	3/8	-	3
18-61328052-T-A	c.204A>T	p.G68=	Synonymous	3/8	-	1
18-61328052-T-C	c.204A>G	p.G68=	Synonymous	3/8	-	1
18-61328052-TC-GT	c.203_204delinsAC	p.G68D	Missense	3/8	-	1
18-61328052-T-G	c.204A>C	p.G68=	Synonymous	3/8	-	1
18-61328053-C-A	c.203G>T	p.G68V	Missense	3/8	-	1
18-61328053-C-T	c.203G>A	p.G68E	Missense	3/8	-	6
18-61328052-TC-T	c.203del	p.G68Efs*22	Frameshift	3/8	-	1
18-61328054-C-T	c.202G>A	p.G68R	Missense	3/8	-	1
18-61328056-G-C	c.200C>G	p.T67R	Missense	3/8	-	1
18-61328059-G-A	c.197C>T	p.T66I	Missense	3/8	-	1
18-61328061-G-A	c.195C>T	p.N65=	Synonymous	3/8	-	1
18-61328062-T-C	c.194A>G	p.N65S	Missense	3/8	-	2
18-61328063-T-G	c.193A>C	p.N65H	Missense	3/8	-	1
18-61328064-C-A	c.192G>T	p.E64D	Missense	3/8	-	6
18-61328064-C-G	c.192G>C	p.E64D	Missense	3/8	-	6
18-61328064-C-T	c.192G>A	p.E64=	Synonymous	3/8	-	1
18-61328064-CTC-ACA	c.190_192delinsTGT	p.E64C	Missense	3/8	-	1
18-61328066-C-T	c.190G>A	p.E64K	Missense	3/8	-	3
18-61328068-G-A	c.188C>T	p.T63I	Missense	3/8	-	1
18-61328070-GA-CT	c.185_186delinsAG	p.V62E	Missense	3/8	-	1
18-61328073-T-A	c.183A>T	p.Q61H	Missense	3/8	-	8
18-61328073-T-G	c.183A>C	p.Q61H	Missense	3/8	-	8
18-61328074-T-A	c.182A>T	p.Q61L	Missense	3/8	-	30
18-61328074-T-C	c.182A>G	p.Q61R	Missense	3/8	-	10
18-61328075-G-A	c.181C>T	p.Q61*	Nonsense	3/8	-	8
18-61328075-G-T	c.181C>A	p.Q61K	Missense	3/8	-	6
18-61328076-ATC-CTT	c.178_180delinsAAG	p.D60K	Missense	3/8	-	2
18-61328077-T-G	c.179A>C	p.D60A	Missense	3/8	-	1
18-61328084-G-A	c.172C>T	p.H58Y	Missense	3/8	-	2
18-61328086-A-G	c.170T>C	p.L57P	Missense	3/8	-	1
18-61328087-G-A	c.169C>T	p.L57F	Missense	3/8	-	2
18-61328089-A-G	c.167T>C	p.V56A	Missense	3/8	-	1
18-61328090-C-T	c.166G>A	p.V56I	Missense	3/8	-	2
18-61328163-C-G	c.166-73G>C	-	IntronicSNV	-	2/7	1
18-61328163-C-T	c.166-73G>A	-	IntronicSNV	-	2/7	1
18-61328194-C-T	c.165+92G>A	-	IntronicSNV	-	2/7	1
18-61328231-C-T	c.165+55G>A	-	IntronicSNV	-	2/7	1
18-61328270-T-G	c.165+16A>C	-	IntronicSNV	-	2/7	1
18-61328286-C-T	c.165G>A	p.K55=	Synonymous	2/8	-	1
18-61328288-T-A	c.163A>T	p.K55*	Nonsense	2/8	-	1
18-61328289-C-T	c.162G>A	p.K54=	Synonymous	2/8	-	1
18-61328289-CTT-ACA	c.160_162delinsTGT	p.K54C	Missense	2/8	-	1
18-61328292-A-G	c.159T>C	p.I53=	Synonymous	2/8	-	1
18-61328292-A-T	c.159T>A	p.I53=	Synonymous	2/8	-	1
18-61328295-C-A	c.156G>T	p.Q52H	Missense	2/8	-	1
18-61328295-C-G	c.156G>C	p.Q52H	Missense	2/8	-	1
18-61328296-T-G	c.155A>C	p.Q52P	Missense	2/8	-	1
18-61328297-G-T	c.154C>A	p.Q52K	Missense	2/8	-	1
18-61328300-G-A	c.151C>T	p.Q51*	Nonsense	2/8	-	2
18-61328301-T-A	c.150A>T	p.A50=	Synonymous	2/8	-	1
18-61328301-T-C	c.150A>G	p.A50=	Synonymous	2/8	-	1
18-61328301-T-G	c.150A>C	p.A50=	Synonymous	2/8	-	1
18-61328301-TGC-ACA	c.148_150delinsTGT	p.A50C	Missense	2/8	-	3
18-61328302-GC-AG	c.148_149delinsCT	p.A50L	Missense	2/8	-	1
18-61328302-GC-TA	c.148_149delinsTA	p.A50*	Nonsense	2/8	-	1
18-61328303-C-G	c.148G>C	p.A50P	Missense	2/8	-	1
18-61328303-C-T	c.148G>A	p.A50T	Missense	2/8	-	1
18-61328305-G-A	c.146C>T	p.T49I	Missense	2/8	-	1
18-61328307-G-C	c.144C>G	p.N48K	Missense	2/8	-	1
18-61328307-G-T	c.144C>A	p.N48K	Missense	2/8	-	2
18-61328309-T-TA	c.141_142insT	p.N48*	Nonsense	2/8	-	1
18-61328310-G-C	c.141C>G	p.D47E	Missense	2/8	-	1
18-61328310-G-T	c.141C>A	p.D47E	Missense	2/8	-	1
18-61328311-T-A	c.140A>T	p.D47V	Missense	2/8	-	1
18-61328311-TC-AA	c.139_140delinsTT	p.D47F	Missense	2/8	-	1
18-61328314-T-G	c.137A>C	p.K46T	Missense	2/8	-	1
18-61328316-G-A	c.135C>T	p.A45=	Synonymous	2/8	-	2
18-61328316-G-C	c.135C>G	p.A45=	Synonymous	2/8	-	2
18-61328316-GGC-TTG	c.133_135delinsCAA	p.A45Q	Missense	2/8	-	1
18-61328316-G-T	c.135C>A	p.A45=	Synonymous	2/8	-	2
18-61328317-G-A	c.134C>T	p.A45V	Missense	2/8	-	1
18-61328317-GC-CA	c.133_134delinsTG	p.A45C	Missense	2/8	-	3
18-61328317-GC-CG	c.133_134delinsCG	p.A45R	Missense	2/8	-	1
18-61328318-C-T	c.133G>A	p.A45T	Missense	2/8	-	3
18-61328320-C-A	c.131G>T	p.G44V	Missense	2/8	-	3
18-61328320-CC-GT	c.130_131delinsAC	p.G44T	Missense	2/8	-	2
18-61328320-C-G	c.131G>C	p.G44A	Missense	2/8	-	1
18-61328320-C-T	c.131G>A	p.G44E	Missense	2/8	-	2
18-61328321-C-A	c.130G>T	p.G44*	Nonsense	2/8	-	1
18-61328321-C-G	c.130G>C	p.G44R	Missense	2/8	-	1
18-61328321-C-T	c.130G>A	p.G44R	Missense	2/8	-	2
18-61328322-T-A	c.129A>T	p.L43F	Missense	2/8	-	2
18-61328322-T-G	c.129A>C	p.L43F	Missense	2/8	-	2
18-61328326-A-G	c.125T>C	p.L42P	Missense	2/8	-	1
18-61328327-G-A	c.124C>T	p.L42F	Missense	2/8	-	2
18-61328327-G-T	c.124C>A	p.L42I	Missense	2/8	-	1
18-61328328-G-A	c.123C>T	p.V41=	Synonymous	2/8	-	1
18-61328328-G-C	c.123C>G	p.V41=	Synonymous	2/8	-	1
18-61328328-G-T	c.123C>A	p.V41=	Synonymous	2/8	-	1
18-61328330-C-T	c.121G>A	p.V41I	Missense	2/8	-	1
18-61328331-C-A	c.120G>T	p.M40I	Missense	2/8	-	1
18-61328331-C-G	c.120G>C	p.M40I	Missense	2/8	-	1
18-61328331-C-T	c.120G>A	p.M40I	Missense	2/8	-	1
18-61328332-A-G	c.119T>C	p.M40T	Missense	2/8	-	1
18-61328334-C-A	c.117G>T	p.G39=	Synonymous	2/8	-	1
18-61328334-C-G	c.117G>C	p.G39=	Synonymous	2/8	-	1
18-61328334-C-T	c.117G>A	p.G39=	Synonymous	2/8	-	1
18-61328335-CC-TA	c.115_116delinsTA	p.G39*	Nonsense	2/8	-	1
18-61328335-CC-TT	c.115_116delinsAA	p.G39K	Missense	2/8	-	1
18-61328335-C-T	c.116G>A	p.G39E	Missense	2/8	-	3
18-61328336-C-A	c.115G>T	p.G39W	Missense	2/8	-	1
18-61328336-C-G	c.115G>C	p.G39R	Missense	2/8	-	1
18-61328336-C-T	c.115G>A	p.G39R	Missense	2/8	-	1
18-61328338-AA-GC	c.112_113delinsGC	p.L38A	Missense	2/8	-	1
18-61328340-TGC-AAA	c.109_111delinsTTT	p.A37F	Missense	2/8	-	1
18-61328340-TG-GT	c.110_111delinsAC	p.A37D	Missense	2/8	-	1
18-61328341-GC-TT	c.109_110delinsAA	p.A37K	Missense	2/8	-	1
18-61328342-C-T	c.109G>A	p.A37T	Missense	2/8	-	3
18-61328344-G-C	c.107C>G	p.S36*	Nonsense	2/8	-	1
18-61328344-G-T	c.107C>A	p.S36*	Nonsense	2/8	-	1
18-61328345-A-C	c.106T>G	p.S36A	Missense	2/8	-	1
18-61328345-A-G	c.106T>C	p.S36P	Missense	2/8	-	1
18-61328346-T-C	c.105A>G	p.T35=	Synonymous	2/8	-	1
18-61328347-GT-AC	c.103_104inv	p.T35V	Missense	2/8	-	1
18-61328349-G-A	c.102C>T	p.I34=	Synonymous	2/8	-	1
18-61328349-G-T	c.102C>A	p.I34=	Synonymous	2/8	-	3
18-61328349-TG-T	c.102del	p.T35Hfs*4	Frameshift	2/8	-	1
18-61328352-G-C	c.99C>G	p.S33R	Missense	2/8	-	1
18-61328352-GCT-TCA	c.97_99delinsTGA	p.S33*	Nonsense	2/8	-	1
18-61328352-G-T	c.99C>A	p.S33R	Missense	2/8	-	1
18-61328354-T-G	c.97A>C	p.S33R	Missense	2/8	-	1
18-61328353-C-T	c.98G>A	p.S33N	Missense	2/8	-	3
18-61328353-CT-AA	c.97_98delinsTT	p.S33F	Missense	2/8	-	1
18-61328353-CT-GC	c.97_98delinsGC	p.S33A	Missense	2/8	-	1
18-61328353-CT-TA	c.97_98delinsTA	p.S33Y	Missense	2/8	-	3
18-61328354-T-A	c.97A>T	p.S33C	Missense	2/8	-	1
18-61328355-G-A	c.96C>T	p.I32=	Synonymous	2/8	-	1
18-61328355-G-C	c.96C>G	p.I32M	Missense	2/8	-	2
18-61328355-G-T	c.96C>A	p.I32=	Synonymous	2/8	-	1
18-61328356-A-C	c.95T>G	p.I32S	Missense	2/8	-	1
18-61328356-A-T	c.95T>A	p.I32N	Missense	2/8	-	1
18-61328357-T-C	c.94A>G	p.I32V	Missense	2/8	-	1
18-61328359-G-A	c.92C>T	p.P31L	Missense	2/8	-	3
18-61328360-G-A	c.91C>T	p.P31S	Missense	2/8	-	1
18-61328360-G-C	c.91C>G	p.P31A	Missense	2/8	-	1
18-61328361-GGA-CTC	c.88_90delinsGAG	p.S30E	Missense	2/8	-	1
18-61328362-GA-TC	c.88_89inv	p.S30D	Missense	2/8	-	1
18-61328362-GA-TG	c.88_89delinsCA	p.S30H	Missense	2/8	-	1
18-61328363-A-C	c.88T>G	p.S30A	Missense	2/8	-	2
18-61328365-T-A	c.86A>T	p.Y29F	Missense	2/8	-	2
18-61328365-T-C	c.86A>G	p.Y29C	Missense	2/8	-	1
18-61328365-T-G	c.86A>C	p.Y29S	Missense	2/8	-	1
18-61328368-A-G	c.83T>C	p.F28S	Missense	2/8	-	1
18-61328367-G-C	c.84C>G	p.F28L	Missense	2/8	-	2
18-61328367-G-T	c.84C>A	p.F28L	Missense	2/8	-	2
18-61328369-A-G	c.82T>C	p.F28L	Missense	2/8	-	2
18-61328370-G-A	c.81C>T	p.I27=	Synonymous	2/8	-	1
18-61328370-GA-CC	c.80_81delinsGG	p.I27R	Missense	2/8	-	3
18-61328370-G-C	c.81C>G	p.I27M	Missense	2/8	-	1
18-61328370-G-T	c.81C>A	p.I27=	Synonymous	2/8	-	1
18-61328371-A-G	c.80T>C	p.I27T	Missense	2/8	-	2
18-61328372-T-G	c.79A>C	p.I27L	Missense	2/8	-	1
18-61328373-G-A	c.78C>T	p.N26=	Synonymous	2/8	-	1
18-61328374-T-A	c.77A>T	p.N26I	Missense	2/8	-	1
18-61328374-T-G	c.77A>C	p.N26T	Missense	2/8	-	1
18-61328376-GTT-CTC	c.73_75delinsGAG	p.N25E	Missense	2/8	-	1
18-61328377-T-G	c.74A>C	p.N25T	Missense	2/8	-	1
18-61328379-C-G	c.72G>C	p.E24D	Missense	2/8	-	1
18-61328379-C-T	c.72G>A	p.E24=	Synonymous	2/8	-	1
18-61328381-C-G	c.70G>C	p.E24Q	Missense	2/8	-	1
18-61328382-TTT-CCA	c.67_69delinsTGG	p.K23W	Missense	2/8	-	1
18-61328384-T-C	c.67A>G	p.K23E	Missense	2/8	-	1
18-61328385-TG-AC	c.65_66delinsGT	p.S22C	Missense	2/8	-	2
18-61328386-G-A	c.65C>T	p.S22L	Missense	2/8	-	2
18-61328386-G-C	c.65C>G	p.S22*	Nonsense	2/8	-	1
18-61328386-G-T	c.65C>A	p.S22*	Nonsense	2/8	-	2
18-61328387-A-C	c.64T>G	p.S22A	Missense	2/8	-	2
18-61328389-TT-GC	c.61_62delinsGC	p.K21A	Missense	2/8	-	1
18-61328390-T-A	c.61A>T	p.K21*	Nonsense	2/8	-	4
18-61328390-T-G	c.61A>C	p.K21Q	Missense	2/8	-	1
18-61328391-T-G	c.60A>C	p.R20S	Missense	2/8	-	1
18-61328392-CT-TG	c.58_59delinsCA	p.R20Q	Missense	2/8	-	1
18-61328395-AA-GC	c.55_56delinsGC	p.F19A	Missense	2/8	-	1
18-61328395-A-C	c.56T>G	p.F19C	Missense	2/8	-	1
18-61328395-A-G	c.56T>C	p.F19S	Missense	2/8	-	1
18-61328397-ACTG-A	c.52_54del	p.Q18del	InFrameDeletion	2/8	-	1
18-61328397-C-T	c.54G>A	p.Q18=	Synonymous	2/8	-	1
18-61328397-CTG-ACA	c.52_54delinsTGT	p.Q18C	Missense	2/8	-	1
18-61328398-TG-GA	c.52_53delinsTC	p.Q18S	Missense	2/8	-	1
18-61328399-G-A	c.52C>T	p.Q18*	Nonsense	2/8	-	1
18-61328400-TTG-GTC	c.49_51delinsGAC	p.Q17D	Missense	2/8	-	1
18-61328401-TG-GC	c.49_50delinsGC	p.Q17A	Missense	2/8	-	1
18-61328401-TG-T	c.49del	p.Q17Nfs*22	Frameshift	2/8	-	1
18-61328404-AA-GC	c.46_47delinsGC	p.F16A	Missense	2/8	-	1
18-61328406-C-A	c.45G>T	p.L15=	Synonymous	2/8	-	1
18-61328406-C-G	c.45G>C	p.L15=	Synonymous	2/8	-	1
18-61328406-C-T	c.45G>A	p.L15=	Synonymous	2/8	-	1
18-61328408-G-A	c.43C>T	p.L15=	Synonymous	2/8	-	4
18-61328407-AG-GT	c.43_44delinsAC	p.L15T	Missense	2/8	-	1
18-61328407-A-T	c.44T>A	p.L15Q	Missense	2/8	-	1
18-61328408-G-T	c.43C>A	p.L15M	Missense	2/8	-	1
18-61328409-G-A	c.42C>T	p.D14=	Synonymous	2/8	-	2
18-61328409-GTC-TTA	c.40_42delinsTAA	p.D14*	Nonsense	2/8	-	1
18-61328410-TC-CA	c.40_41delinsTG	p.D14C	Missense	2/8	-	5
18-61328411-C-G	c.40G>C	p.D14H	Missense	2/8	-	4
18-61328411-C-T	c.40G>A	p.D14N	Missense	2/8	-	3
18-61328412-G-A	c.39C>T	p.F13=	Synonymous	2/8	-	3
18-61328413-AA-GC	c.37_38delinsGC	p.F13A	Missense	2/8	-	1
18-61328415-CAT-ACA	c.34_36delinsTGT	p.M12C	Missense	2/8	-	1
18-61328416-A-G	c.35T>C	p.M12T	Missense	2/8	-	1
18-61328416-AT-GC	c.34_35delinsGC	p.M12A	Missense	2/8	-	1
18-61328417-T-C	c.34A>G	p.M12V	Missense	2/8	-	1
18-61328418-G-A	c.33C>T	p.F11=	Synonymous	2/8	-	4
18-61328418-G-T	c.33C>A	p.F11L	Missense	2/8	-	3
18-61328419-AA-CG	c.31_32delinsCG	p.F11R	Missense	2/8	-	13
18-61328419-AA-GC	c.31_32delinsGC	p.F11A	Missense	2/8	-	1
18-61328419-AA-TT	c.31_32inv	p.F11N	Missense	2/8	-	1
18-61328419-A-C	c.32T>G	p.F11C	Missense	2/8	-	1
18-61328418-G-C	c.33C>G	p.F11L	Missense	2/8	-	1
18-61328420-A-G	c.31T>C	p.F11L	Missense	2/8	-	1
18-61328421-CTT-ACA	c.28_30delinsTGT	p.K10C	Missense	2/8	-	1
18-61328422-T-C	c.29A>G	p.K10R	Missense	2/8	-	1
18-61328422-TT-GC	c.28_29delinsGC	p.K10A	Missense	2/8	-	1
18-61328424-G-A	c.27C>T	p.T9=	Synonymous	2/8	-	2
18-61328425-G-C	c.26C>G	p.T9S	Missense	2/8	-	1
18-61328425-G-T	c.26C>A	p.T9N	Missense	2/8	-	2
18-61328426-T-A	c.25A>T	p.T9S	Missense	2/8	-	1
18-61328427-G-C	c.24C>G	p.N8K	Missense	2/8	-	2
18-61328427-G-T	c.24C>A	p.N8K	Missense	2/8	-	4
18-61328428-T-A	c.23A>T	p.N8I	Missense	2/8	-	1
18-61328430-G-T	c.21C>A	p.A7=	Synonymous	2/8	-	1
18-61328431-G-A	c.20C>T	p.A7V	Missense	2/8	-	1
18-61328433-T-C	c.18A>G	p.E6=	Synonymous	2/8	-	1
18-61328437-C-T	c.14G>A	p.S5N	Missense	2/8	-	1
18-61328439-G-A	c.12C>T	p.L4=	Synonymous	2/8	-	3
18-61328439-G-C	c.12C>G	p.L4=	Synonymous	2/8	-	2
18-61328439-G-T	c.12C>A	p.L4=	Synonymous	2/8	-	2
18-61328441-G-A	c.10C>T	p.L4F	Missense	2/8	-	2
18-61328442-T-A	c.9A>T	p.S3=	Synonymous	2/8	-	4
18-61328442-T-C	c.9A>G	p.S3=	Synonymous	2/8	-	4
18-61328442-T-G	c.9A>C	p.S3=	Synonymous	2/8	-	4
18-61328443-G-A	c.8C>T	p.S3L	Missense	2/8	-	3
18-61328443-G-C	c.8C>G	p.S3*	Nonsense	2/8	-	2
18-61328443-G-T	c.8C>A	p.S3*	Nonsense	2/8	-	2
18-61328445-AATT-A	c.4_6del	p.N2del	InFrameDeletion	2/8	-	1
18-61328445-A-G	c.6T>C	p.N2=	Synonymous	2/8	-	15
18-61328448-C-A	c.3G>T	p.M1?	Missense	2/8	-	1
18-61328448-C-G	c.3G>C	p.M1?	Missense	2/8	-	1
18-61328448-C-T	c.3G>A	p.M1?	Missense	2/8	-	2
18-61328449-A-C	c.2T>G	p.M1?	Missense	2/8	-	1
18-61328595-C-A	c.-26-119G>T	-	IntronicSNV	-	1/7	2
18-61328595-C-T	c.-26-119G>A	-	IntronicSNV	-	1/7	2