IDH1

IDH1 isocitrate dehydrogenase (NADP(+)) 1

Annotation transcript: NM_005896.4

1424 unique variant annotations were identified in 1854 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
2-209101311-C-A	c.*492G>T	-	3-UTRSNV	10/10	-	8
2-209101696-A-C	c.*107T>G	-	3-UTRSNV	10/10	-	1
2-209101813-G-A	c.1235C>T	p.A412V	Missense	10/10	-	2
2-209101814-C-G	c.1234G>C	p.A412P	Missense	10/10	-	1
2-209101814-C-T	c.1234G>A	p.A412T	Missense	10/10	-	1
2-209101819-G-C	c.1229C>G	p.A410G	Missense	10/10	-	1
2-209101820-C-A	c.1228G>T	p.A410S	Missense	10/10	-	1
2-209101821-TAG-AAA	c.1225_1227delinsTTT	p.L409F	Missense	10/10	-	1
2-209101823-G-C	c.1225C>G	p.L409V	Missense	10/10	-	1
2-209101824-T-C	c.1224A>G	p.K408=	Synonymous	10/10	-	1
2-209101828-A-G	c.1220T>C	p.I407T	Missense	10/10	-	1
2-209101829-T-C	c.1219A>G	p.I407V	Missense	10/10	-	2
2-209101830-C-A	c.1218G>T	p.K406N	Missense	10/10	-	1
2-209101830-C-G	c.1218G>C	p.K406N	Missense	10/10	-	2
2-209101830-C-T	c.1218G>A	p.K406=	Synonymous	10/10	-	1
2-209101828-ATCTTCAAGTTT-A	c.1209_1219del	p.E403Dfs*15	Frameshift	10/10	-	1
2-209101832-T-C	c.1216A>G	p.K406E	Missense	10/10	-	2
2-209101832-T-TC	c.1215dup	p.K406Efs*16	Frameshift	10/10	-	1
2-209101833-C-G	c.1215G>C	p.L405F	Missense	10/10	-	1
2-209101835-A-G	c.1213T>C	p.L405=	Synonymous	10/10	-	1
2-209101836-G-A	c.1212C>T	p.N404=	Synonymous	10/10	-	1
2-209101837-T-C	c.1211A>G	p.N404S	Missense	10/10	-	1
2-209101840-T-TAGCCGA	c.1207_1208insTCGGCT	p.E403delinsVG*	Frameshift	10/10	-	1
2-209101841-C-G	c.1207G>C	p.E403Q	Missense	10/10	-	2
2-209101841-TCTCCAAGTTTA-T	c.1197_1207del	p.D399Efs*19	Frameshift	10/10	-	1
2-209101842-TCC-ACA	c.1204_1206delinsTGT	p.G402C	Missense	10/10	-	1
2-209101843-C-G	c.1205G>C	p.G402A	Missense	10/10	-	1
2-209101844-C-A	c.1204G>T	p.G402*	Nonsense	10/10	-	2
2-209101846-A-C	c.1202T>G	p.L401R	Missense	10/10	-	1
2-209101846-A-G	c.1202T>C	p.L401P	Missense	10/10	-	2
2-209101850-T-A	c.1198A>T	p.K400*	Nonsense	10/10	-	1
2-209101854-C-A	c.1194G>T	p.M398I	Missense	10/10	-	1
2-209101854-C-G	c.1194G>C	p.M398I	Missense	10/10	-	1
2-209101854-C-T	c.1194G>A	p.M398I	Missense	10/10	-	1
2-209101856-T-C	c.1192A>G	p.M398V	Missense	10/10	-	1
2-209101857-G-C	c.1191C>G	p.F397L	Missense	10/10	-	3
2-209101857-G-T	c.1191C>A	p.F397L	Missense	10/10	-	3
2-209101859-A-G	c.1189T>C	p.F397L	Missense	10/10	-	3
2-209101862-C-G	c.1186G>C	p.E396Q	Missense	10/10	-	2
2-209101862-C-T	c.1186G>A	p.E396K	Missense	10/10	-	1
2-209101865-A-C	c.1183T>G	p.F395V	Missense	10/10	-	2
2-209101866-T-A	c.1182A>T	p.T394=	Synonymous	10/10	-	1
2-209101866-T-C	c.1182A>G	p.T394=	Synonymous	10/10	-	1
2-209101866-T-G	c.1182A>C	p.T394=	Synonymous	10/10	-	2
2-209101873-A-T	c.1175T>A	p.L392*	Nonsense	10/10	-	1
2-209101872-C-T	c.1176G>A	p.L392=	Synonymous	10/10	-	1
2-209101874-A-G	c.1174T>C	p.L392=	Synonymous	10/10	-	1
2-209101876-T-A	c.1172A>T	p.Y391F	Missense	10/10	-	2
2-209101876-T-G	c.1172A>C	p.Y391S	Missense	10/10	-	1
2-209101877-A-C	c.1171T>G	p.Y391D	Missense	10/10	-	1
2-209101878-G-C	c.1170C>G	p.D390E	Missense	10/10	-	1
2-209101879-T-C	c.1169A>G	p.D390G	Missense	10/10	-	1
2-209101879-T-G	c.1169A>C	p.D390A	Missense	10/10	-	1
2-209101880-C-T	c.1168G>A	p.D390N	Missense	10/10	-	1
2-209101882-G-A	c.1166C>T	p.S389F	Missense	10/10	-	1
2-209101884-ACG-TCA	c.1162_1164delinsTGA	p.R388*	Nonsense	10/10	-	1
2-209101884-AC-TT	c.1163_1164delinsAA	p.R388Q	Missense	10/10	-	1
2-209101885-C-T	c.1163G>A	p.R388H	Missense	10/10	-	6
2-209101886-G-A	c.1162C>T	p.R388C	Missense	10/10	-	1
2-209101888-T-G	c.1160A>C	p.Q387P	Missense	10/10	-	1
2-209101889-G-T	c.1159C>A	p.Q387K	Missense	10/10	-	1
2-209101890-C-A	c.1158G>T	p.V386=	Synonymous	10/10	-	1
2-209101890-C-G	c.1158G>C	p.V386=	Synonymous	10/10	-	1
2-209101890-C-T	c.1158G>A	p.V386=	Synonymous	10/10	-	4
2-209101893-A-C	c.1155T>G	p.N385K	Missense	10/10	-	1
2-209101893-A-G	c.1155T>C	p.N385=	Synonymous	10/10	-	1
2-209102117-A-ACT	c.1155-225_1155-224insAG	-	IntronicInsertion	-	9/9	1
2-209102117-A-ACTCAAC	c.1155-225_1155-224insGTTGAG	-	IntronicInsertion	-	9/9	1
2-209102117-A-ACTT	c.1155-225_1155-224insAAG	-	IntronicInsertion	-	9/9	1
2-209102118-C-CTT	c.1155-226_1155-225insAA	-	IntronicInsertion	-	9/9	1
2-209103778-G-T	c.1154+17C>A	-	IntronicSNV	-	9/9	1
2-209103796-T-A	c.1153A>T	p.N385Y	Missense	9/10	-	1
2-209103796-T-C	c.1153A>G	p.N385D	Missense	9/10	-	1
2-209103798-G-A	c.1151C>T	p.P384L	Missense	9/10	-	1
2-209103800-T-G	c.1149A>C	p.L383F	Missense	9/10	-	1
2-209103801-A-G	c.1148T>C	p.L383S	Missense	9/10	-	1
2-209103802-A-C	c.1147T>G	p.L383V	Missense	9/10	-	1
2-209103804-C-G	c.1145G>C	p.G382A	Missense	9/10	-	1
2-209103804-C-T	c.1145G>A	p.G382D	Missense	9/10	-	4
2-209103805-C-T	c.1144G>A	p.G382S	Missense	9/10	-	1
2-209103808-T-C	c.1141A>G	p.K381E	Missense	9/10	-	1
2-209103807-TTAA-T	c.1139_1141del	p.I380del	InFrameDeletion	9/10	-	1
2-209103811-T-A	c.1138A>T	p.I380F	Missense	9/10	-	3
2-209103812-G-A	c.1137C>T	p.C379=	Synonymous	9/10	-	1
2-209103813-CA-GT	c.1135_1136delinsAC	p.C379T	Missense	9/10	-	1
2-209103814-A-C	c.1135T>G	p.C379G	Missense	9/10	-	2
2-209103819-GC-TT	c.1129_1130delinsAA	p.A377N	Missense	9/10	-	1
2-209103819-G-T	c.1130C>A	p.A377D	Missense	9/10	-	1
2-209103820-C-T	c.1129G>A	p.A377T	Missense	9/10	-	1
2-209103823-A-G	c.1126T>C	p.L376=	Synonymous	9/10	-	1
2-209103824-G-A	c.1125C>T	p.D375=	Synonymous	9/10	-	1
2-209103825-T-C	c.1124A>G	p.D375G	Missense	9/10	-	1
2-209103826-C-A	c.1123G>T	p.D375Y	Missense	9/10	-	11
2-209103826-C-T	c.1123G>A	p.D375N	Missense	9/10	-	1
2-209103825-TC-T	c.1123del	p.D375Tfs*18	Frameshift	9/10	-	1
2-209103827-C-G	c.1122G>C	p.K374N	Missense	9/10	-	1
2-209103828-T-C	c.1121A>G	p.K374R	Missense	9/10	-	1
2-209103829-T-G	c.1120A>C	p.K374Q	Missense	9/10	-	1
2-209103831-G-A	c.1118C>T	p.T373I	Missense	9/10	-	1
2-209103831-G-C	c.1118C>G	p.T373S	Missense	9/10	-	1
2-209103831-G-T	c.1118C>A	p.T373N	Missense	9/10	-	1
2-209103832-T-A	c.1117A>T	p.T373S	Missense	9/10	-	1
2-209103834-A-G	c.1115T>C	p.M372T	Missense	9/10	-	1
2-209103840-C-A	c.1109G>T	p.G370V	Missense	9/10	-	3
2-209103840-C-T	c.1109G>A	p.G370D	Missense	9/10	-	4
2-209103841-C-A	c.1108G>T	p.G370C	Missense	9/10	-	1
2-209103843-G-T	c.1106C>A	p.A369D	Missense	9/10	-	1
2-209103844-C-A	c.1105G>T	p.A369S	Missense	9/10	-	1
2-209103844-C-G	c.1105G>C	p.A369P	Missense	9/10	-	1
2-209103845-C-A	c.1104G>T	p.E368D	Missense	9/10	-	1
2-209103845-C-G	c.1104G>C	p.E368D	Missense	9/10	-	1
2-209103847-C-G	c.1102G>C	p.E368Q	Missense	9/10	-	1
2-209103848-A-C	c.1101T>G	p.I367M	Missense	9/10	-	1
2-209103849-A-G	c.1100T>C	p.I367T	Missense	9/10	-	1
2-209103850-T-C	c.1099A>G	p.I367V	Missense	9/10	-	2
2-209103851-TG-CA	c.1097_1098inv	p.T366M	Missense	9/10	-	1
2-209103856-C-A	c.1093G>T	p.E365*	Nonsense	9/10	-	1
2-209103856-C-T	c.1093G>A	p.E365K	Missense	9/10	-	4
2-209103856-TC-T	c.1093del	p.E365Rfs*8	Frameshift	9/10	-	1
2-209103859-T-C	c.1090A>G	p.I364V	Missense	9/10	-	3
2-209103861-G-A	c.1088C>T	p.S363F	Missense	9/10	-	1
2-209103861-G-C	c.1088C>G	p.S363C	Missense	9/10	-	1
2-209103862-A-T	c.1087T>A	p.S363T	Missense	9/10	-	1
2-209103864-A-G	c.1085T>C	p.V362A	Missense	9/10	-	1
2-209103866-T-G	c.1083A>C	p.E361D	Missense	9/10	-	1
2-209103868-C-T	c.1081G>A	p.E361K	Missense	9/10	-	7
2-209103864-ACTT-A	c.1082_1084del	p.E361del	InFrameDeletion	9/10	-	1
2-209103871-C-G	c.1078G>C	p.E360Q	Missense	9/10	-	2
2-209103871-C-T	c.1078G>A	p.E360K	Missense	9/10	-	3
2-209103872-C-A	c.1077G>T	p.L359F	Missense	9/10	-	6
2-209103872-C-G	c.1077G>C	p.L359F	Missense	9/10	-	6
2-209103876-G-A	c.1073C>T	p.A358V	Missense	9/10	-	1
2-209103880-T-C	c.1069A>G	p.N357D	Missense	9/10	-	1
2-209103886-A-C	c.1063T>G	p.F355V	Missense	9/10	-	2
2-209103887-G-C	c.1062C>G	p.F354L	Missense	9/10	-	4
2-209103887-G-T	c.1062C>A	p.F354L	Missense	9/10	-	3
2-209103889-A-C	c.1060T>G	p.F354V	Missense	9/10	-	1
2-209103889-A-G	c.1060T>C	p.F354L	Missense	9/10	-	3
2-209103891-G-A	c.1058C>T	p.A353V	Missense	9/10	-	1
2-209103891-GGC-G	c.1057_1058del	p.A353Lfs*12	Frameshift	9/10	-	1
2-209103894-A-G	c.1055T>C	p.L352P	Missense	9/10	-	1
2-209103895-G-GC	c.1053dup	p.L352Afs*14	Frameshift	9/10	-	1
2-209103896-C-A	c.1053G>T	p.E351D	Missense	9/10	-	1
2-209103896-C-G	c.1053G>C	p.E351D	Missense	9/10	-	1
2-209103898-C-A	c.1051G>T	p.E351*	Nonsense	9/10	-	1
2-209103898-C-G	c.1051G>C	p.E351Q	Missense	9/10	-	1
2-209103899-T-G	c.1050A>C	p.K350N	Missense	9/10	-	1
2-209103900-T-G	c.1049A>C	p.K350T	Missense	9/10	-	1
2-209103903-T-C	c.1046A>G	p.N349S	Missense	9/10	-	3
2-209103906-T-C	c.1043A>G	p.N348S	Missense	9/10	-	1
2-209103908-A-C	c.1041T>G	p.D347E	Missense	9/10	-	1
2-209103908-A-G	c.1041T>C	p.D347=	Synonymous	9/10	-	1
2-209103908-A-T	c.1041T>A	p.D347E	Missense	9/10	-	1
2-209103910-C-G	c.1039G>C	p.D347H	Missense	9/10	-	2
2-209103910-C-T	c.1039G>A	p.D347N	Missense	9/10	-	7
2-209103912-A-C	c.1037T>G	p.L346R	Missense	9/10	-	1
2-209103912-A-G	c.1037T>C	p.L346P	Missense	9/10	-	3
2-209103913-G-A	c.1036C>T	p.L346F	Missense	9/10	-	1
2-209103914-C-T	c.1035G>A	p.K345=	Synonymous	9/10	-	4
2-209103925-G-A	c.1024C>T	p.H342Y	Missense	9/10	-	2
2-209103925-G-T	c.1024C>A	p.H342N	Missense	9/10	-	2
2-209103927-G-A	c.1022C>T	p.A341V	Missense	9/10	-	4
2-209103927-G-T	c.1022C>A	p.A341D	Missense	9/10	-	1
2-209103928-C-A	c.1021G>T	p.A341S	Missense	9/10	-	1
2-209103928-C-T	c.1021G>A	p.A341T	Missense	9/10	-	1
2-209103930-AA-TG	c.1018_1019delinsCA	p.L340Q	Missense	9/10	-	1
2-209103931-A-C	c.1018T>G	p.L340V	Missense	9/10	-	1
2-209103933-C-T	c.1016G>A	p.G339E	Missense	9/10	-	1
2-209103934-C-A	c.1015G>T	p.G339W	Missense	9/10	-	1
2-209103934-C-G	c.1015G>C	p.G339R	Missense	9/10	-	1
2-209103934-C-T	c.1015G>A	p.G339R	Missense	9/10	-	3
2-209103935-TC-CA	c.1013_1014delinsTG	p.R338M	Missense	9/10	-	1
2-209103936-C-G	c.1013G>C	p.R338T	Missense	9/10	-	7
2-209103936-C-T	c.1013G>A	p.R338K	Missense	9/10	-	1
2-209103937-T-A	c.1012A>T	p.R338*	Nonsense	9/10	-	1
2-209103937-T-C	c.1012A>G	p.R338G	Missense	9/10	-	1
2-209103938-G-A	c.1011C>T	p.T337=	Synonymous	9/10	-	1
2-209103938-G-C	c.1011C>G	p.T337=	Synonymous	9/10	-	1
2-209103938-G-T	c.1011C>A	p.T337=	Synonymous	9/10	-	1
2-209103937-TG-T	c.1011del	p.R338Efs*3	Frameshift	9/10	-	2
2-209103939-G-A	c.1010C>T	p.T337I	Missense	9/10	-	1
2-209103941-C-A	c.1008G>T	p.W336C	Missense	9/10	-	1
2-209103941-C-T	c.1008G>A	p.W336*	Nonsense	9/10	-	1
2-209103942-C-T	c.1007G>A	p.W336*	Nonsense	9/10	-	1
2-209103944-G-A	c.1005C>T	p.A335=	Synonymous	9/10	-	1
2-209103945-G-A	c.1004C>T	p.A335V	Missense	9/10	-	1
2-209103949-A-T	c.1000T>A	p.F334I	Missense	9/10	-	3
2-209103946-CA-C	c.1002del	p.F334Lfs*7	Frameshift	9/10	-	1
2-209103951-A-C	c.998T>G	p.I333S	Missense	9/10	-	1
2-209103952-T-C	c.997A>G	p.I333V	Missense	9/10	-	3
2-209103953-G-A	c.996C>T	p.S332=	Synonymous	9/10	-	1
2-209103957-G-C	c.992C>G	p.A331G	Missense	9/10	-	1
2-209103980-C-A	c.992-23G>T	-	IntronicSNV	-	8/9	1
2-209104007-G-A	c.992-50C>T	-	IntronicSNV	-	8/9	1
2-209104230-A-G	c.992-273T>C	-	IntronicSNV	-	8/9	1
2-209104497-G-T	c.991+90C>A	-	IntronicSNV	-	8/9	1
2-209104559-T-G	c.991+28A>C	-	IntronicSNV	-	8/9	1
2-209104579-C-A	c.991+8G>T	-	IntronicSNV	-	8/9	1
2-209104582-C-T	c.991+5G>A	-	IntronicSNV	-	8/9	1
2-209104587-C-T	c.991G>A	p.A331T	Missense	8/10	-	5
2-209104589-A-C	c.989T>G	p.I330S	Missense	8/10	-	1
2-209104589-A-G	c.989T>C	p.I330T	Missense	8/10	-	1
2-209104589-A-T	c.989T>A	p.I330N	Missense	8/10	-	1
2-209104591-G-A	c.987C>T	p.P329=	Synonymous	8/10	-	1
2-209104591-G-C	c.987C>G	p.P329=	Synonymous	8/10	-	2
2-209104591-G-T	c.987C>A	p.P329=	Synonymous	8/10	-	1
2-209104592-G-A	c.986C>T	p.P329L	Missense	8/10	-	1
2-209104594-A-C	c.984T>G	p.N328K	Missense	8/10	-	1
2-209104594-A-T	c.984T>A	p.N328K	Missense	8/10	-	1
2-209104595-T-C	c.983A>G	p.N328S	Missense	8/10	-	1
2-209104596-T-C	c.982A>G	p.N328D	Missense	8/10	-	1
2-209104597-G-A	c.981C>T	p.T327=	Synonymous	8/10	-	1
2-209104597-G-C	c.981C>G	p.T327=	Synonymous	8/10	-	2
2-209104599-T-C	c.979A>G	p.T327A	Missense	8/10	-	4
2-209104601-GA-AG	c.976_977delinsCT	p.S326L	Missense	8/10	-	1
2-209104601-G-C	c.977C>G	p.S326C	Missense	8/10	-	1
2-209104602-A-G	c.976T>C	p.S326P	Missense	8/10	-	2
2-209104603-C-A	c.975G>T	p.T325=	Synonymous	8/10	-	2
2-209104603-C-G	c.975G>C	p.T325=	Synonymous	8/10	-	2
2-209104603-C-T	c.975G>A	p.T325=	Synonymous	8/10	-	4
2-209104604-G-A	c.974C>T	p.T325M	Missense	8/10	-	10
2-209104606-C-G	c.972G>C	p.E324D	Missense	8/10	-	1
2-209104608-C-T	c.970G>A	p.E324K	Missense	8/10	-	1
2-209104607-TC-T	c.970del	p.E324Rfs*17	Frameshift	8/10	-	1
2-209104610-T-C	c.968A>G	p.Q323R	Missense	8/10	-	1
2-209104611-G-C	c.967C>G	p.Q323E	Missense	8/10	-	1
2-209104613-C-T	c.965G>A	p.G322E	Missense	8/10	-	2
2-209104615-T-C	c.963A>G	p.K321=	Synonymous	8/10	-	1
2-209104617-T-G	c.961A>C	p.K321Q	Missense	8/10	-	2
2-209104618-C-A	c.960G>T	p.Q320H	Missense	8/10	-	2
2-209104618-C-G	c.960G>C	p.Q320H	Missense	8/10	-	2
2-209104619-T-C	c.959A>G	p.Q320R	Missense	8/10	-	2
2-209104621-G-C	c.957C>G	p.Y319*	Nonsense	8/10	-	1
2-209104621-G-T	c.957C>A	p.Y319*	Nonsense	8/10	-	1
2-209104622-T-A	c.956A>T	p.Y319F	Missense	8/10	-	1
2-209104623-A-C	c.955T>G	p.Y319D	Missense	8/10	-	1
2-209104628-C-A	c.950G>T	p.R317L	Missense	8/10	-	1
2-209104628-CG-TC	c.949_950delinsGA	p.R317D	Missense	8/10	-	1
2-209104628-C-T	c.950G>A	p.R317H	Missense	8/10	-	1
2-209104629-G-A	c.949C>T	p.R317C	Missense	8/10	-	3
2-209104629-G-T	c.949C>A	p.R317S	Missense	8/10	-	1
2-209104631-T-C	c.947A>G	p.Y316C	Missense	8/10	-	1
2-209104632-A-C	c.946T>G	p.Y316D	Missense	8/10	-	1
2-209104633-G-C	c.945C>G	p.H315Q	Missense	8/10	-	1
2-209104633-G-T	c.945C>A	p.H315Q	Missense	8/10	-	1
2-209104634-TG-AT	c.943_944delinsAT	p.H315I	Missense	8/10	-	1
2-209104634-TG-GC	c.943_944delinsGC	p.H315A	Missense	8/10	-	2
2-209104634-T-TG	c.943dup	p.H315Pfs*33	Frameshift	8/10	-	1
2-209104635-G-C	c.943C>G	p.H315D	Missense	8/10	-	4
2-209104636-A-C	c.942T>G	p.R314=	Synonymous	8/10	-	1
2-209104636-A-G	c.942T>C	p.R314=	Synonymous	8/10	-	1
2-209104636-A-T	c.942T>A	p.R314=	Synonymous	8/10	-	1
2-209104637-CG-TC	c.940_941delinsGA	p.R314D	Missense	8/10	-	2
2-209104637-C-T	c.941G>A	p.R314H	Missense	8/10	-	10
2-209104638-G-A	c.940C>T	p.R314C	Missense	8/10	-	12
2-209104638-G-T	c.940C>A	p.R314S	Missense	8/10	-	1
2-209104639-G-A	c.939C>T	p.T313=	Synonymous	8/10	-	4
2-209104640-G-A	c.938C>T	p.T313I	Missense	8/10	-	1
2-209104640-GT-CA	c.937_938delinsTG	p.T313C	Missense	8/10	-	1
2-209104644-C-T	c.934G>A	p.V312I	Missense	8/10	-	2
2-209104646-G-A	c.932C>T	p.T311I	Missense	8/10	-	1
2-209104647-T-C	c.931A>G	p.T311A	Missense	8/10	-	1
2-209104648-CCC-GCT	c.928_930delinsAGC	p.G310S	Missense	8/10	-	1
2-209104649-C-A	c.929G>T	p.G310V	Missense	8/10	-	6
2-209104649-CC-GT	c.928_929delinsAC	p.G310T	Missense	8/10	-	1
2-209104649-C-T	c.929G>A	p.G310E	Missense	8/10	-	1
2-209104650-C-A	c.928G>T	p.G310W	Missense	8/10	-	1
2-209104650-C-G	c.928G>C	p.G310R	Missense	8/10	-	4
2-209104650-C-T	c.928G>A	p.G310R	Missense	8/10	-	6
2-209104651-G-A	c.927C>T	p.H309=	Synonymous	8/10	-	1
2-209104651-G-C	c.927C>G	p.H309Q	Missense	8/10	-	1
2-209104651-G-T	c.927C>A	p.H309Q	Missense	8/10	-	1
2-209104652-T-C	c.926A>G	p.H309R	Missense	8/10	-	1
2-209104652-TG-GC	c.925_926delinsGC	p.H309A	Missense	8/10	-	1
2-209104658-G-A	c.920C>T	p.A307V	Missense	8/10	-	3
2-209104659-C-A	c.919G>T	p.A307S	Missense	8/10	-	1
2-209104660-C-A	c.918G>T	p.E306D	Missense	8/10	-	3
2-209104660-C-G	c.918G>C	p.E306D	Missense	8/10	-	3
2-209104661-T-G	c.917A>C	p.E306A	Missense	8/10	-	2
2-209104662-C-A	c.916G>T	p.E306*	Nonsense	8/10	-	1
2-209104664-G-T	c.914C>A	p.A305E	Missense	8/10	-	1
2-209104665-C-A	c.913G>T	p.A305S	Missense	8/10	-	1
2-209104665-C-T	c.913G>A	p.A305T	Missense	8/10	-	1
2-209104668-C-A	c.910G>T	p.E304*	Nonsense	8/10	-	1
2-209104668-C-T	c.910G>A	p.E304K	Missense	8/10	-	1
2-209104670-A-G	c.908T>C	p.V303A	Missense	8/10	-	1
2-209104673-G-C	c.905C>G	p.T302R	Missense	8/10	-	3
2-209104675-C-G	c.903G>C	p.K301N	Missense	8/10	-	1
2-209104677-T-C	c.901A>G	p.K301E	Missense	8/10	-	1
2-209104678-GC-CT	c.899_900delinsAG	p.G300E	Missense	8/10	-	1
2-209104679-C-A	c.899G>T	p.G300V	Missense	8/10	-	4
2-209104679-C-T	c.899G>A	p.G300D	Missense	8/10	-	3
2-209104680-C-A	c.898G>T	p.G300C	Missense	8/10	-	2
2-209104680-C-T	c.898G>A	p.G300S	Missense	8/10	-	4
2-209104681-A-C	c.897T>G	p.D299E	Missense	8/10	-	1
2-209104681-A-G	c.897T>C	p.D299=	Synonymous	8/10	-	1
2-209104681-A-T	c.897T>A	p.D299E	Missense	8/10	-	2
2-209104682-T-C	c.896A>G	p.D299G	Missense	8/10	-	1
2-209104683-C-A	c.895G>T	p.D299Y	Missense	8/10	-	1
2-209104683-C-G	c.895G>C	p.D299H	Missense	8/10	-	3
2-209104684-T-C	c.894A>G	p.P298=	Synonymous	8/10	-	1
2-209104684-TGG-ACA	c.892_894delinsTGT	p.P298C	Missense	8/10	-	1
2-209104685-G-A	c.893C>T	p.P298L	Missense	8/10	-	3
2-209104687-GA-G	c.891del	p.P298Qfs*6	Frameshift	8/10	-	1
2-209104688-C-A	c.890G>T	p.C297F	Missense	8/10	-	1
2-209104688-C-T	c.890G>A	p.C297Y	Missense	8/10	-	1
2-209104688-C-G	c.890G>C	p.C297S	Missense	8/10	-	5
2-209104689-A-T	c.889T>A	p.C297S	Missense	8/10	-	4
2-209104688-CA-C	c.889del	p.C297Vfs*7	Frameshift	8/10	-	1
2-209104693-C-A	c.885G>T	p.L295=	Synonymous	8/10	-	1
2-209104693-C-G	c.885G>C	p.L295=	Synonymous	8/10	-	1
2-209104693-C-T	c.885G>A	p.L295=	Synonymous	8/10	-	1
2-209104695-G-A	c.883C>T	p.L295=	Synonymous	8/10	-	1
2-209104696-C-A	c.882G>T	p.V294=	Synonymous	8/10	-	3
2-209104696-C-G	c.882G>C	p.V294=	Synonymous	8/10	-	1
2-209104696-C-T	c.882G>A	p.V294=	Synonymous	8/10	-	1
2-209104698-C-A	c.880G>T	p.V294L	Missense	8/10	-	1
2-209104698-C-G	c.880G>C	p.V294L	Missense	8/10	-	1
2-209104698-C-T	c.880G>A	p.V294M	Missense	8/10	-	8
2-209104699-G-A	c.879C>T	p.S293=	Synonymous	8/10	-	1
2-209104700-C-A	c.878G>T	p.S293I	Missense	8/10	-	1
2-209104702-GG-CA	c.875_876delinsTG	p.T292M	Missense	8/10	-	2
2-209104703-G-A	c.875C>T	p.T292I	Missense	8/10	-	2
2-209104703-G-T	c.875C>A	p.T292N	Missense	8/10	-	1
2-209104705-C-A	c.873G>T	p.M291I	Missense	8/10	-	8
2-209104705-C-G	c.873G>C	p.M291I	Missense	8/10	-	8
2-209104705-C-T	c.873G>A	p.M291I	Missense	8/10	-	10
2-209104706-A-G	c.872T>C	p.M291T	Missense	8/10	-	1
2-209104707-T-C	c.871A>G	p.M291V	Missense	8/10	-	1
2-209104708-C-A	c.870G>T	p.M290I	Missense	8/10	-	4
2-209104708-C-G	c.870G>C	p.M290I	Missense	8/10	-	4
2-209104708-C-T	c.870G>A	p.M290I	Missense	8/10	-	8
2-209104710-T-A	c.868A>T	p.M290L	Missense	8/10	-	1
2-209104710-T-G	c.868A>C	p.M290L	Missense	8/10	-	1
2-209104712-C-G	c.866G>C	p.G289A	Missense	8/10	-	1
2-209104712-C-T	c.866G>A	p.G289D	Missense	8/10	-	2
2-209104713-C-A	c.865G>T	p.G289C	Missense	8/10	-	2
2-209104713-C-T	c.865G>A	p.G289S	Missense	8/10	-	1
2-209104714-G-A	c.864C>T	p.L288=	Synonymous	8/10	-	1
2-209104714-G-GCAGA	c.863_864insTCTG	p.G289Lfs*60	Frameshift	8/10	-	1
2-209104713-CGA-C	c.863_864del	p.L288Rfs*59	Frameshift	8/10	-	2
2-209104719-A-T	c.859T>A	p.S287T	Missense	8/10	-	1
2-209104721-C-T	c.857G>A	p.G286D	Missense	8/10	-	1
2-209104723-A-C	c.855T>G	p.Y285*	Nonsense	8/10	-	2
2-209104723-A-T	c.855T>A	p.Y285*	Nonsense	8/10	-	3
2-209104724-T-C	c.854A>G	p.Y285C	Missense	8/10	-	3
2-209104726-C-A	c.852G>T	p.G284=	Synonymous	8/10	-	1
2-209104726-C-G	c.852G>C	p.G284=	Synonymous	8/10	-	1
2-209104726-C-T	c.852G>A	p.G284=	Synonymous	8/10	-	1
2-209104727-C-A	c.851G>T	p.G284V	Missense	8/10	-	1
2-209104727-C-G	c.851G>C	p.G284A	Missense	8/10	-	1
2-209104740-G-A	c.851-13C>T	-	IntronicSNV	-	7/9	4
2-209104740-G-C	c.851-13C>G	-	IntronicSNV	-	7/9	4
2-209104811-A-C	c.851-84T>G	-	IntronicSNV	-	7/9	1
2-209106707-C-A	c.850+11G>T	-	IntronicSNV	-	7/9	1
2-209106718-C-A	c.850G>T	p.G284W	Missense	7/10	-	2
2-209106719-T-A	c.849A>T	p.Q283H	Missense	7/10	-	1
2-209106719-T-G	c.849A>C	p.Q283H	Missense	7/10	-	1
2-209106722-G-A	c.846C>T	p.A282=	Synonymous	7/10	-	1
2-209106722-G-C	c.846C>G	p.A282=	Synonymous	7/10	-	1
2-209106722-G-T	c.846C>A	p.A282=	Synonymous	7/10	-	1
2-209106723-G-A	c.845C>T	p.A282V	Missense	7/10	-	1
2-209106724-C-A	c.844G>T	p.A282S	Missense	7/10	-	1
2-209106724-C-T	c.844G>A	p.A282T	Missense	7/10	-	1
2-209106729-G-A	c.839C>T	p.S280F	Missense	7/10	-	19
2-209106730-A-C	c.838T>G	p.S280A	Missense	7/10	-	1
2-209106732-T-G	c.836A>C	p.D279A	Missense	7/10	-	1
2-209106733-C-G	c.835G>C	p.D279H	Missense	7/10	-	1
2-209106733-C-T	c.835G>A	p.D279N	Missense	7/10	-	5
2-209106735-G-A	c.833C>T	p.S278L	Missense	7/10	-	4
2-209106736-A-G	c.832T>C	p.S278P	Missense	7/10	-	4
2-209106738-T-A	c.830A>T	p.Q277L	Missense	7/10	-	2
2-209106739-G-T	c.829C>A	p.Q277K	Missense	7/10	-	1
2-209106741-A-G	c.827T>C	p.V276A	Missense	7/10	-	1
2-209106742-C-T	c.826G>A	p.V276M	Missense	7/10	-	5
2-209106743-G-A	c.825C>T	p.D275=	Synonymous	7/10	-	4
2-209106746-A-C	c.822T>G	p.G274=	Synonymous	7/10	-	1
2-209106746-A-G	c.822T>C	p.G274=	Synonymous	7/10	-	1
2-209106746-A-T	c.822T>A	p.G274=	Synonymous	7/10	-	1
2-209106748-C-G	c.820G>C	p.G274R	Missense	7/10	-	1
2-209106748-C-T	c.820G>A	p.G274S	Missense	7/10	-	1
2-209106749-A-C	c.819T>G	p.D273E	Missense	7/10	-	1
2-209106749-A-T	c.819T>A	p.D273E	Missense	7/10	-	1
2-209106750-T-C	c.818A>G	p.D273G	Missense	7/10	-	1
2-209106750-TC-AG	c.817_818delinsCT	p.D273L	Missense	7/10	-	1
2-209106750-TC-CT	c.817_818delinsAG	p.D273S	Missense	7/10	-	1
2-209106751-C-T	c.817G>A	p.D273N	Missense	7/10	-	1
2-209106751-CAT-C	c.815_816del	p.Y272*	Frameshift	7/10	-	1
2-209106753-T-C	c.815A>G	p.Y272C	Missense	7/10	-	1
2-209106755-G-C	c.813C>G	p.N271K	Missense	7/10	-	1
2-209106755-G-T	c.813C>A	p.N271K	Missense	7/10	-	1
2-209106759-T-C	c.809A>G	p.K270R	Missense	7/10	-	1
2-209106755-GT-G	c.812del	p.N271Tfs*20	Frameshift	7/10	-	2
2-209106760-T-C	c.808A>G	p.K270E	Missense	7/10	-	1
2-209106761-A-G	c.807T>C	p.C269=	Synonymous	7/10	-	1
2-209106762-CA-GC	c.805_806delinsGC	p.C269A	Missense	7/10	-	1
2-209106762-C-G	c.806G>C	p.C269S	Missense	7/10	-	1
2-209106763-A-T	c.805T>A	p.C269S	Missense	7/10	-	1
2-209106772-T-C	c.796A>G	p.I266V	Missense	7/10	-	1
2-209106773-G-A	c.795C>T	p.F265=	Synonymous	7/10	-	1
2-209106773-G-C	c.795C>G	p.F265L	Missense	7/10	-	1
2-209106773-G-T	c.795C>A	p.F265L	Missense	7/10	-	1
2-209106775-A-G	c.793T>C	p.F265L	Missense	7/10	-	2
2-209106777-C-G	c.791G>C	p.G264A	Missense	7/10	-	2
2-209106777-C-T	c.791G>A	p.G264D	Missense	7/10	-	2
2-209106779-TCC-GCT	c.787_789delinsAGC	p.G263S	Missense	7/10	-	1
2-209106780-C-A	c.788G>T	p.G263V	Missense	7/10	-	3
2-209106780-C-T	c.788G>A	p.G263E	Missense	7/10	-	1
2-209106782-C-A	c.786G>T	p.E262D	Missense	7/10	-	1
2-209106784-C-G	c.784G>C	p.E262Q	Missense	7/10	-	3
2-209106784-C-T	c.784G>A	p.E262K	Missense	7/10	-	1
2-209106786-G-A	c.782C>T	p.S261L	Missense	7/10	-	13
2-209106788-T-A	c.780A>T	p.K260N	Missense	7/10	-	1
2-209106788-T-G	c.780A>C	p.K260N	Missense	7/10	-	1
2-209106788-TTT-GTC	c.778_780delinsGAC	p.K260D	Missense	7/10	-	1
2-209106790-T-G	c.778A>C	p.K260Q	Missense	7/10	-	1
2-209106791-C-T	c.777G>A	p.M259I	Missense	7/10	-	3
2-209106792-A-C	c.776T>G	p.M259R	Missense	7/10	-	1
2-209106792-A-G	c.776T>C	p.M259T	Missense	7/10	-	1
2-209106792-AT-GC	c.775_776delinsGC	p.M259A	Missense	7/10	-	1
2-209106792-AT-TC	c.775_776delinsGA	p.M259E	Missense	7/10	-	1
2-209106795-G-C	c.773C>G	p.A258G	Missense	7/10	-	1
2-209106796-C-T	c.772G>A	p.A258T	Missense	7/10	-	3
2-209106799-G-C	c.769C>G	p.Q257E	Missense	7/10	-	1
2-209106801-G-A	c.767C>T	p.A256V	Missense	7/10	-	1
2-209106801-G-C	c.767C>G	p.A256G	Missense	7/10	-	1
2-209106802-C-A	c.766G>T	p.A256S	Missense	7/10	-	1
2-209106802-C-T	c.766G>A	p.A256T	Missense	7/10	-	1
2-209106801-GC-G	c.766del	p.A256Pfs*4	Frameshift	7/10	-	1
2-209106803-C-A	c.765G>T	p.V255=	Synonymous	7/10	-	1
2-209106803-CAC-GAT	c.763_765delinsATC	p.V255I	Missense	7/10	-	1
2-209106804-A-G	c.764T>C	p.V255A	Missense	7/10	-	1
2-209106804-A-T	c.764T>A	p.V255E	Missense	7/10	-	1
2-209106805-C-T	c.763G>A	p.V255M	Missense	7/10	-	2
2-209106806-C-A	c.762G>T	p.M254I	Missense	7/10	-	5
2-209106806-C-G	c.762G>C	p.M254I	Missense	7/10	-	5
2-209106806-C-T	c.762G>A	p.M254I	Missense	7/10	-	6
2-209106807-A-T	c.761T>A	p.M254K	Missense	7/10	-	1
2-209106810-T-A	c.758A>T	p.D253V	Missense	7/10	-	1
2-209106810-T-G	c.758A>C	p.D253A	Missense	7/10	-	1
2-209106811-C-T	c.757G>A	p.D253N	Missense	7/10	-	4
2-209106812-G-A	c.756C>T	p.D252=	Synonymous	7/10	-	2
2-209106813-T-C	c.755A>G	p.D252G	Missense	7/10	-	2
2-209106813-TC-AA	c.754_755delinsTT	p.D252F	Missense	7/10	-	2
2-209106813-T-G	c.755A>C	p.D252A	Missense	7/10	-	1
2-209106814-C-T	c.754G>A	p.D252N	Missense	7/10	-	6
2-209106814-TCGA-T	c.752_754del	p.I251_D252delinsN	MultiAAMissense	7/10	-	1
2-209106815-G-A	c.753C>T	p.I251=	Synonymous	7/10	-	2
2-209106817-T-C	c.751A>G	p.I251V	Missense	7/10	-	2
2-209106819-A-G	c.749T>C	p.L250P	Missense	7/10	-	1
2-209106821-C-A	c.747G>T	p.R249S	Missense	7/10	-	3
2-209106821-CCT-GTC	c.745_747delinsGAC	p.R249D	Missense	7/10	-	1
2-209106821-C-G	c.747G>C	p.R249S	Missense	7/10	-	1
2-209106822-C-A	c.746G>T	p.R249M	Missense	7/10	-	3
2-209106822-C-T	c.746G>A	p.R249K	Missense	7/10	-	1
2-209106823-T-C	c.745A>G	p.R249G	Missense	7/10	-	2
2-209106825-T-G	c.743A>C	p.H248P	Missense	7/10	-	1
2-209106826-G-A	c.742C>T	p.H248Y	Missense	7/10	-	3
2-209106826-G-C	c.742C>G	p.H248D	Missense	7/10	-	1
2-209106829-C-T	c.739G>A	p.E247K	Missense	7/10	-	1
2-209106832-A-G	c.736T>C	p.Y246H	Missense	7/10	-	1
2-209106839-C-A	c.729G>T	p.K243N	Missense	7/10	-	1
2-209106839-C-G	c.729G>C	p.K243N	Missense	7/10	-	1
2-209106839-C-T	c.729G>A	p.K243=	Synonymous	7/10	-	1
2-209106841-T-C	c.727A>G	p.K243E	Missense	7/10	-	1
2-209106842-T-C	c.726A>G	p.Q242=	Synonymous	7/10	-	2
2-209106846-G-A	c.722C>T	p.A241V	Missense	7/10	-	1
2-209106849-T-G	c.719A>C	p.E240A	Missense	7/10	-	1
2-209106850-C-T	c.718G>A	p.E240K	Missense	7/10	-	2
2-209106852-A-C	c.716T>G	p.F239C	Missense	7/10	-	1
2-209106859-A-G	c.709T>C	p.S237P	Missense	7/10	-	2
2-209106860-C-A	c.708G>T	p.K236N	Missense	7/10	-	1
2-209106860-C-G	c.708G>C	p.K236N	Missense	7/10	-	1
2-209106860-C-T	c.708G>A	p.K236=	Synonymous	7/10	-	2
2-209106861-T-C	c.707A>G	p.K236R	Missense	7/10	-	2
2-209106860-CT-C	c.707del	p.K236Sfs*24	Frameshift	7/10	-	1
2-209106864-T-A	c.704A>T	p.Y235F	Missense	7/10	-	1
2-209106864-T-C	c.704A>G	p.Y235C	Missense	7/10	-	16
2-209106865-A-G	c.703T>C	p.Y235H	Missense	7/10	-	1
2-209106865-A-T	c.703T>A	p.Y235N	Missense	7/10	-	1
2-209106867-T-G	c.701A>C	p.Q234P	Missense	7/10	-	1
2-209106869-C-T	c.699G>A	p.K233=	Synonymous	7/10	-	1
2-209106875-A-G	c.699-6T>C	-	IntronicSNV	-	6/9	2
2-209107724-G-A	c.698+427C>T	-	IntronicSNV	-	6/9	1
2-209108149-A-G	c.698+2T>C	-	IntronicSNV	-	6/9	1
2-209108150-C-T	c.698+1G>A	-	IntronicSNV	-	6/9	1
2-209108154-T-A	c.695A>T	p.D232V	Missense	6/10	-	1
2-209108154-TC-CT	c.694_695delinsAG	p.D232S	Missense	6/10	-	1
2-209108154-T-G	c.695A>C	p.D232A	Missense	6/10	-	2
2-209108157-T-C	c.692A>G	p.Y231C	Missense	6/10	-	1
2-209108158-A-G	c.691T>C	p.Y231H	Missense	6/10	-	3
2-209108159-TA-GT	c.689_690delinsAC	p.I230N	Missense	6/10	-	1
2-209108160-AT-GC	c.688_689delinsGC	p.I230A	Missense	6/10	-	1
2-209108164-C-T	c.685G>A	p.E229K	Missense	6/10	-	1
2-209108165-C-A	c.684G>T	p.Q228H	Missense	6/10	-	1
2-209108166-T-C	c.683A>G	p.Q228R	Missense	6/10	-	7
2-209108167-G-A	c.682C>T	p.Q228*	Nonsense	6/10	-	5
2-209108170-A-C	c.679T>G	p.F227V	Missense	6/10	-	1
2-209108172-A-T	c.677T>A	p.I226N	Missense	6/10	-	1
2-209108176-C-G	c.673G>C	p.D225H	Missense	6/10	-	1
2-209108176-C-T	c.673G>A	p.D225N	Missense	6/10	-	1
2-209108177-T-C	c.672A>G	p.K224=	Synonymous	6/10	-	1
2-209108178-T-C	c.671A>G	p.K224R	Missense	6/10	-	2
2-209108178-T-G	c.671A>C	p.K224T	Missense	6/10	-	1
2-209108179-T-G	c.670A>C	p.K224Q	Missense	6/10	-	2
2-209108181-A-C	c.668T>G	p.F223C	Missense	6/10	-	1
2-209108181-A-G	c.668T>C	p.F223S	Missense	6/10	-	1
2-209108183-A-C	c.666T>G	p.R222=	Synonymous	6/10	-	2
2-209108183-ACG-CCA	c.664_666delinsTGG	p.R222W	Missense	6/10	-	1
2-209108183-A-G	c.666T>C	p.R222=	Synonymous	6/10	-	2
2-209108183-A-T	c.666T>A	p.R222=	Synonymous	6/10	-	2
2-209108184-C-A	c.665G>T	p.R222L	Missense	6/10	-	1
2-209108184-C-T	c.665G>A	p.R222H	Missense	6/10	-	2
2-209108185-G-A	c.664C>T	p.R222C	Missense	6/10	-	12
2-209108185-G-T	c.664C>A	p.R222S	Missense	6/10	-	1
2-209108187-C-A	c.662G>T	p.G221V	Missense	6/10	-	4
2-209108190-T-C	c.659A>G	p.D220G	Missense	6/10	-	6
2-209108191-C-A	c.658G>T	p.D220Y	Missense	6/10	-	1
2-209108191-C-T	c.658G>A	p.D220N	Missense	6/10	-	5
2-209108193-T-A	c.656A>T	p.Y219F	Missense	6/10	-	1
2-209108193-T-C	c.656A>G	p.Y219C	Missense	6/10	-	2
2-209108194-A-G	c.655T>C	p.Y219H	Missense	6/10	-	1
2-209108195-T-C	c.654A>G	p.K218=	Synonymous	6/10	-	1
2-209108198-C-A	c.651G>T	p.K217N	Missense	6/10	-	1
2-209108198-C-G	c.651G>C	p.K217N	Missense	6/10	-	1
2-209108199-T-A	c.650A>T	p.K217M	Missense	6/10	-	1
2-209108199-T-C	c.650A>G	p.K217R	Missense	6/10	-	1
2-209108200-T-G	c.649A>C	p.K217Q	Missense	6/10	-	1
2-209108201-C-A	c.648G>T	p.L216=	Synonymous	6/10	-	1
2-209108201-C-G	c.648G>C	p.L216=	Synonymous	6/10	-	1
2-209108201-C-T	c.648G>A	p.L216=	Synonymous	6/10	-	2
2-209108202-A-G	c.647T>C	p.L216P	Missense	6/10	-	1
2-209108203-AG-A	c.646del	p.L216*	Frameshift	6/10	-	1
2-209108203-G-A	c.646C>T	p.L216=	Synonymous	6/10	-	2
2-209108203-G-C	c.646C>G	p.L216V	Missense	6/10	-	2
2-209108206-T-A	c.643A>T	p.I215F	Missense	6/10	-	2
2-209108208-G-C	c.641C>G	p.T214S	Missense	6/10	-	1
2-209108209-T-A	c.640A>T	p.T214S	Missense	6/10	-	1
2-209108210-G-T	c.639C>A	p.N213K	Missense	6/10	-	1
2-209108211-T-C	c.638A>G	p.N213S	Missense	6/10	-	1
2-209108211-T-G	c.638A>C	p.N213T	Missense	6/10	-	2
2-209108212-T-TA	c.636_637insT	p.N213*	Nonsense	6/10	-	1
2-209108213-T-C	c.636A>G	p.K212=	Synonymous	6/10	-	1
2-209108210-G-GT	c.638dup	p.N213Kfs*8	Frameshift	6/10	-	1
2-209108210-GT-G	c.638del	p.N213Tfs*4	Frameshift	6/10	-	4
2-209108215-T-A	c.634A>T	p.K212*	Nonsense	6/10	-	1
2-209108215-T-C	c.634A>G	p.K212E	Missense	6/10	-	1
2-209108216-GG-CA	c.632_633delinsTG	p.T211M	Missense	6/10	-	1
2-209108217-G-A	c.632C>T	p.T211I	Missense	6/10	-	1
2-209108219-G-A	c.630C>T	p.S210=	Synonymous	6/10	-	1
2-209108219-TG-T	c.630del	p.S210Rfs*7	Frameshift	6/10	-	1
2-209108220-C-G	c.629G>C	p.S210T	Missense	6/10	-	2
2-209108220-C-T	c.629G>A	p.S210N	Missense	6/10	-	7
2-209108221-T-C	c.628A>G	p.S210G	Missense	6/10	-	2
2-209108224-G-A	c.625C>T	p.L209=	Synonymous	6/10	-	1
2-209108225-A-C	c.624T>G	p.Y208*	Nonsense	6/10	-	2
2-209108225-A-T	c.624T>A	p.Y208*	Nonsense	6/10	-	1
2-209108226-T-C	c.623A>G	p.Y208C	Missense	6/10	-	20
2-209108227-A-C	c.622T>G	p.Y208D	Missense	6/10	-	1
2-209108227-A-G	c.622T>C	p.Y208H	Missense	6/10	-	4
2-209108229-A-C	c.620T>G	p.L207W	Missense	6/10	-	1
2-209108232-G-A	c.617C>T	p.P206L	Missense	6/10	-	1
2-209108235-C-A	c.614G>T	p.W205L	Missense	6/10	-	1
2-209108238-C-A	c.611G>T	p.G204V	Missense	6/10	-	1
2-209108238-C-T	c.611G>A	p.G204D	Missense	6/10	-	1
2-209108240-C-A	c.609G>T	p.K203N	Missense	6/10	-	2
2-209108240-C-G	c.609G>C	p.K203N	Missense	6/10	-	1
2-209108241-CTTAG-C	c.605_608del	p.S202Wfs*7	Frameshift	6/10	-	1
2-209108241-T-C	c.608A>G	p.K203R	Missense	6/10	-	1
2-209108243-AG-TT	c.605_606delinsAA	p.S202*	Nonsense	6/10	-	1
2-209108243-TA-T	c.606del	p.K203Rfs*7	Frameshift	6/10	-	1
2-209108244-GA-AG	c.604_605delinsCT	p.S202L	Missense	6/10	-	1
2-209108244-GA-TT	c.604_605delinsAA	p.S202N	Missense	6/10	-	1
2-209108242-TAGAC-T	c.603_606del	p.S202Rfs*7	Frameshift	6/10	-	1
2-209108248-G-A	c.601C>T	p.L201=	Synonymous	6/10	-	1
2-209108251-C-A	c.598G>T	p.A200S	Missense	6/10	-	3
2-209108252-CCAT-C	c.595_597del	p.M199del	InFrameDeletion	6/10	-	1
2-209108253-A-C	c.596T>G	p.M199R	Missense	6/10	-	1
2-209108254-T-A	c.595A>T	p.M199L	Missense	6/10	-	2
2-209108256-T-C	c.593A>G	p.Q198R	Missense	6/10	-	1
2-209108256-T-G	c.593A>C	p.Q198P	Missense	6/10	-	6
2-209108257-G-A	c.592C>T	p.Q198*	Nonsense	6/10	-	5
2-209108259-A-C	c.590T>G	p.F197C	Missense	6/10	-	1
2-209108258-G-C	c.591C>G	p.F197L	Missense	6/10	-	1
2-209108258-G-T	c.591C>A	p.F197L	Missense	6/10	-	1
2-209108260-A-G	c.589T>C	p.F197L	Missense	6/10	-	1
2-209108262-G-A	c.587C>T	p.S196F	Missense	6/10	-	4
2-209108262-GA-AG	c.586_587delinsCT	p.S196L	Missense	6/10	-	2
2-209108262-GA-TT	c.586_587delinsAA	p.S196N	Missense	6/10	-	1
2-209108266-T-A	c.583A>T	p.S195C	Missense	6/10	-	1
2-209108267-G-T	c.582C>A	p.H194Q	Missense	6/10	-	1
2-209108269-G-A	c.580C>T	p.H194Y	Missense	6/10	-	1
2-209108271-G-A	c.578C>T	p.A193V	Missense	6/10	-	1
2-209108272-C-A	c.577G>T	p.A193S	Missense	6/10	-	2
2-209108272-C-G	c.577G>C	p.A193P	Missense	6/10	-	1
2-209108272-C-T	c.577G>A	p.A193T	Missense	6/10	-	1
2-209108273-A-C	c.576T>G	p.F192L	Missense	6/10	-	1
2-209108273-A-T	c.576T>A	p.F192L	Missense	6/10	-	1
2-209108275-A-G	c.574T>C	p.F192L	Missense	6/10	-	1
2-209108278-C-T	c.571G>A	p.D191N	Missense	6/10	-	1
2-209108281-C-A	c.568G>T	p.E190*	Nonsense	6/10	-	1
2-209108281-C-T	c.568G>A	p.E190K	Missense	6/10	-	10
2-209108282-A-G	c.567T>C	p.I189=	Synonymous	6/10	-	3
2-209108282-A-T	c.567T>A	p.I189=	Synonymous	6/10	-	1
2-209108283-A-G	c.566T>C	p.I189T	Missense	6/10	-	1
2-209108284-T-A	c.565A>T	p.I189F	Missense	6/10	-	2
2-209108284-T-C	c.565A>G	p.I189V	Missense	6/10	-	15
2-209108285-T-A	c.564A>T	p.S188=	Synonymous	6/10	-	1
2-209108286-G-T	c.563C>A	p.S188*	Nonsense	6/10	-	1
2-209108287-A-T	c.562T>A	p.S188T	Missense	6/10	-	1
2-209108288-C-T	c.561G>A	p.K187=	Synonymous	6/10	-	1
2-209108289-T-C	c.560A>G	p.K187R	Missense	6/10	-	1
2-209108291-A-C	c.558T>G	p.D186E	Missense	6/10	-	1
2-209108291-A-T	c.558T>A	p.D186E	Missense	6/10	-	1
2-209108292-T-C	c.557A>G	p.D186G	Missense	6/10	-	1
2-209108293-C-A	c.556G>T	p.D186Y	Missense	6/10	-	1
2-209108293-C-G	c.556G>C	p.D186H	Missense	6/10	-	1
2-209108293-C-T	c.556G>A	p.D186N	Missense	6/10	-	1
2-209108295-T-G	c.554A>C	p.Q185P	Missense	6/10	-	6
2-209108296-G-A	c.553C>T	p.Q185*	Nonsense	6/10	-	2
2-209108297-A-C	c.552T>G	p.N184K	Missense	6/10	-	1
2-209108297-A-T	c.552T>A	p.N184K	Missense	6/10	-	1
2-209108298-T-G	c.551A>C	p.N184T	Missense	6/10	-	1
2-209108299-T-C	c.550A>G	p.N184D	Missense	6/10	-	1
2-209108301-T-C	c.548A>G	p.Y183C	Missense	6/10	-	37
2-209108303-C-A	c.546G>T	p.M182I	Missense	6/10	-	1
2-209108303-C-G	c.546G>C	p.M182I	Missense	6/10	-	1
2-209108303-C-T	c.546G>A	p.M182I	Missense	6/10	-	2
2-209108305-T-A	c.544A>T	p.M182L	Missense	6/10	-	6
2-209108305-T-C	c.544A>G	p.M182V	Missense	6/10	-	6
2-209108305-T-G	c.544A>C	p.M182L	Missense	6/10	-	6
2-209108306-CCC-GCT	c.541_543delinsAGC	p.G181S	Missense	6/10	-	1
2-209108307-C-T	c.542G>A	p.G181E	Missense	6/10	-	4
2-209108308-C-G	c.541G>C	p.G181R	Missense	6/10	-	1
2-209108308-C-T	c.541G>A	p.G181R	Missense	6/10	-	1
2-209108309-C-T	c.540G>A	p.M180I	Missense	6/10	-	1
2-209108313-G-T	c.536C>A	p.A179D	Missense	6/10	-	6
2-209108315-A-C	c.534T>G	p.V178=	Synonymous	6/10	-	2
2-209108315-A-G	c.534T>C	p.V178=	Synonymous	6/10	-	2
2-209108315-A-T	c.534T>A	p.V178=	Synonymous	6/10	-	2
2-209108314-C-CA	c.534dup	p.A179Cfs*6	Frameshift	6/10	-	1
2-209108316-A-C	c.533T>G	p.V178G	Missense	6/10	-	1
2-209108316-AC-CA	c.532_533delinsTG	p.V178C	Missense	6/10	-	1
2-209108316-A-G	c.533T>C	p.V178A	Missense	6/10	-	1
2-209108317-C-T	c.532G>A	p.V178I	Missense	6/10	-	73
2-209108319-C-A	c.530G>T	p.G177V	Missense	6/10	-	1
2-209108319-C-T	c.530G>A	p.G177D	Missense	6/10	-	4
2-209108320-C-T	c.529G>A	p.G177S	Missense	6/10	-	1
2-209108321-AC-CT	c.527_528delinsAG	p.G176E	Missense	6/10	-	2
2-209108322-C-A	c.527G>T	p.G176V	Missense	6/10	-	1
2-209108322-CC-TT	c.526_527delinsAA	p.G176N	Missense	6/10	-	1
2-209108323-C-T	c.526G>A	p.G176S	Missense	6/10	-	1
2-209108325-C-A	c.524G>T	p.G175V	Missense	6/10	-	2
2-209108325-C-T	c.524G>A	p.G175D	Missense	6/10	-	4
2-209108326-C-G	c.523G>C	p.G175R	Missense	6/10	-	1
2-209108327-T-A	c.522A>T	p.E174D	Missense	6/10	-	1
2-209108328-T-C	c.521A>G	p.E174G	Missense	6/10	-	2
2-209110003-G-T	c.520+40C>A	-	IntronicSNV	-	5/9	1
2-209110006-TA-T	c.520+36del	-	IntronicDeletion	-	5/9	3
2-209110006-T-TA	c.520+36dup	-	IntronicInsertion	-	5/9	2
2-209110031-A-T	c.520+12T>A	-	IntronicSNV	-	5/9	1
2-209110036-T-C	c.520+7A>G	-	IntronicSNV	-	5/9	1
2-209110039-A-T	c.520+4T>A	-	IntronicSNV	-	5/9	1
2-209110041-A-G	c.520+2T>C	-	IntronicSNV	-	5/9	1
2-209110043-C-A	c.520G>T	p.E174*	Nonsense	5/10	-	1
2-209110043-C-T	c.520G>A	p.E174K	Missense	5/10	-	1
2-209110046-C-T	c.517G>A	p.E173K	Missense	5/10	-	1
2-209110049-A-T	c.514T>A	p.F172I	Missense	5/10	-	3
2-209110051-T-C	c.512A>G	p.N171S	Missense	5/10	-	1
2-209110051-T-G	c.512A>C	p.N171T	Missense	5/10	-	5
2-209110052-T-C	c.511A>G	p.N171D	Missense	5/10	-	1
2-209110052-T-TA	c.510dup	p.N171*	Nonsense	5/10	-	1
2-209110054-T-C	c.509A>G	p.H170R	Missense	5/10	-	1
2-209110054-T-G	c.509A>C	p.H170P	Missense	5/10	-	1
2-209110057-A-G	c.506T>C	p.V169A	Missense	5/10	-	1
2-209110060-AG-A	c.502del	p.L168Wfs*42	Frameshift	5/10	-	1
2-209110065-T-A	c.498A>T	p.T166=	Synonymous	5/10	-	1
2-209110065-T-C	c.498A>G	p.T166=	Synonymous	5/10	-	1
2-209110065-T-G	c.498A>C	p.T166=	Synonymous	5/10	-	2
2-209110066-G-A	c.497C>T	p.T166I	Missense	5/10	-	1
2-209110066-G-T	c.497C>A	p.T166K	Missense	5/10	-	1
2-209110067-T-A	c.496A>T	p.T166S	Missense	5/10	-	1
2-209110067-T-C	c.496A>G	p.T166A	Missense	5/10	-	1
2-209110068-C-G	c.495G>C	p.V165=	Synonymous	5/10	-	1
2-209110069-A-C	c.494T>G	p.V165G	Missense	5/10	-	1
2-209110070-C-T	c.493G>A	p.V165M	Missense	5/10	-	1
2-209110071-C-A	c.492G>T	p.K164N	Missense	5/10	-	2
2-209110071-C-G	c.492G>C	p.K164N	Missense	5/10	-	1
2-209110072-T-C	c.491A>G	p.K164R	Missense	5/10	-	1
2-209110073-T-C	c.490A>G	p.K164E	Missense	5/10	-	2
2-209110075-T-C	c.488A>G	p.Q163R	Missense	5/10	-	1
2-209110077-G-A	c.486C>T	p.T162=	Synonymous	5/10	-	1
2-209110077-G-C	c.486C>G	p.T162=	Synonymous	5/10	-	1
2-209110077-G-T	c.486C>A	p.T162=	Synonymous	5/10	-	1
2-209110079-T-C	c.484A>G	p.T162A	Missense	5/10	-	3
2-209110080-T-C	c.483A>G	p.G161=	Synonymous	5/10	-	1
2-209110082-C-A	c.481G>T	p.G161*	Nonsense	5/10	-	4
2-209110082-C-G	c.481G>C	p.G161R	Missense	5/10	-	3
2-209110082-C-T	c.481G>A	p.G161R	Missense	5/10	-	5
2-209110083-G-A	c.480C>T	p.D160=	Synonymous	5/10	-	6
2-209110083-G-C	c.480C>G	p.D160E	Missense	5/10	-	7
2-209110083-G-T	c.480C>A	p.D160E	Missense	5/10	-	7
2-209110085-C-A	c.478G>T	p.D160Y	Missense	5/10	-	1
2-209110085-C-T	c.478G>A	p.D160N	Missense	5/10	-	1
2-209110086-A-C	c.477T>G	p.S159R	Missense	5/10	-	1
2-209110086-A-T	c.477T>A	p.S159R	Missense	5/10	-	1
2-209110088-T-G	c.475A>C	p.S159R	Missense	5/10	-	1
2-209110090-G-A	c.473C>T	p.P158L	Missense	5/10	-	4
2-209110091-G-A	c.472C>T	p.P158S	Missense	5/10	-	1
2-209110091-G-GT	c.471dup	p.P158Tfs*3	Frameshift	5/10	-	1
2-209110093-G-A	c.470C>T	p.T157I	Missense	5/10	-	1
2-209110094-T-C	c.469A>G	p.T157A	Missense	5/10	-	1
2-209110095-G-A	c.468C>T	p.Y156=	Synonymous	5/10	-	1
2-209110099-G-A	c.464C>T	p.T155I	Missense	5/10	-	1
2-209110099-G-C	c.464C>G	p.T155S	Missense	5/10	-	3
2-209110100-T-A	c.463A>T	p.T155S	Missense	5/10	-	4
2-209110101-T-C	c.462A>G	p.I154M	Missense	5/10	-	1
2-209110102-A-C	c.461T>G	p.I154R	Missense	5/10	-	2
2-209110106-C-T	c.457G>A	p.E153K	Missense	5/10	-	2
2-209110108-A-C	c.455T>G	p.V152G	Missense	5/10	-	1
2-209110109-C-A	c.454G>T	p.V152L	Missense	5/10	-	1
2-209110109-C-G	c.454G>C	p.V152L	Missense	5/10	-	1
2-209110109-C-T	c.454G>A	p.V152I	Missense	5/10	-	1
2-209110110-T-A	c.453A>T	p.K151N	Missense	5/10	-	2
2-209110110-T-C	c.453A>G	p.K151=	Synonymous	5/10	-	1
2-209110110-T-G	c.453A>C	p.K151N	Missense	5/10	-	2
2-209110111-TT-GC	c.451_452delinsGC	p.K151A	Missense	5/10	-	3
2-209110112-T-TA	c.450_451insT	p.K151*	Nonsense	5/10	-	1
2-209110113-TCC-AAA	c.448_450delinsTTT	p.G150F	Missense	5/10	-	1
2-209110114-C-A	c.449G>T	p.G150V	Missense	5/10	-	1
2-209110115-C-G	c.448G>C	p.G150R	Missense	5/10	-	1
2-209110115-C-T	c.448G>A	p.G150R	Missense	5/10	-	1
2-209110118-G-T	c.445C>A	p.P149T	Missense	5/10	-	6
2-209110119-CCC-GCT	c.442_444delinsAGC	p.G148S	Missense	5/10	-	1
2-209110121-C-A	c.442G>T	p.G148W	Missense	5/10	-	1
2-209110124-G-A	c.439C>T	p.P147S	Missense	5/10	-	1
2-209110124-G-T	c.439C>A	p.P147T	Missense	5/10	-	2
2-209110127-C-T	c.436G>A	p.V146I	Missense	5/10	-	2
2-209110136-C-T	c.427G>A	p.D143N	Missense	5/10	-	5
2-209110137-AG-CA	c.425_426delinsTG	p.T142M	Missense	5/10	-	1
2-209110142-C-T	c.421G>A	p.A141T	Missense	5/10	-	3
2-209110143-TCT-ACA	c.418_420delinsTGT	p.R140C	Missense	5/10	-	1
2-209110143-TCT-ATG	c.418_420delinsCAT	p.R140H	Missense	5/10	-	1
2-209110143-TCT-CCA	c.418_420delinsTGG	p.R140W	Missense	5/10	-	3
2-209110144-C-A	c.419G>T	p.R140I	Missense	5/10	-	1
2-209110144-C-T	c.419G>A	p.R140K	Missense	5/10	-	8
2-209110144-CT-AG	c.418_419inv	p.R140L	Missense	5/10	-	1
2-209110144-CT-TG	c.418_419delinsCA	p.R140Q	Missense	5/10	-	45
2-209110145-T-A	c.418A>T	p.R140*	Nonsense	5/10	-	1
2-209110145-T-C	c.418A>G	p.R140G	Missense	5/10	-	2
2-209110147-T-A	c.416A>T	p.Y139F	Missense	5/10	-	3
2-209110147-TA-GC	c.415_416delinsGC	p.Y139A	Missense	5/10	-	1
2-209110148-A-C	c.415T>G	p.Y139D	Missense	5/10	-	6
2-209110168-G-A	c.415-20C>T	-	IntronicSNV	-	4/9	1
2-209110168-G-C	c.415-20C>G	-	IntronicSNV	-	4/9	1
2-209110188-C-A	c.415-40G>T	-	IntronicSNV	-	4/9	1
2-209110188-C-T	c.415-40G>A	-	IntronicSNV	-	4/9	1
2-209110197-G-A	c.415-49C>T	-	IntronicSNV	-	4/9	1
2-209110271-T-TTC	c.415-124_415-123insGA	-	IntronicInsertion	-	4/9	1
2-209110386-T-A	c.415-238A>T	-	IntronicSNV	-	4/9	1
2-209110386-T-C	c.415-238A>G	-	IntronicSNV	-	4/9	1
2-209110608-T-C	c.415-460A>G	-	IntronicSNV	-	4/9	1
2-209110784-C-T	c.415-636G>A	-	IntronicSNV	-	4/9	1
2-209112217-T-C	c.414+876A>G	-	IntronicSNV	-	4/9	1
2-209112551-G-A	c.414+542C>T	-	IntronicSNV	-	4/9	3
2-209113014-TA-T	c.414+78del	-	IntronicDeletion	-	4/9	1
2-209113048-GA-G	c.414+44del	-	IntronicDeletion	-	4/9	3
2-209113048-G-GA	c.414+44dup	-	IntronicInsertion	-	4/9	1
2-209113061-T-A	c.414+32A>T	-	IntronicSNV	-	4/9	1
2-209113064-A-C	c.414+29T>G	-	IntronicSNV	-	4/9	1
2-209113078-G-C	c.414+15C>G	-	IntronicSNV	-	4/9	1
2-209113081-A-C	c.414+12T>G	-	IntronicSNV	-	4/9	1
2-209113083-C-A	c.414+10G>T	-	IntronicSNV	-	4/9	1
2-209113084-A-T	c.414+9T>A	-	IntronicSNV	-	4/9	2
2-209113085-T-A	c.414+8A>T	-	IntronicSNV	-	4/9	1
2-209113092-C-T	c.414+1G>A	-	IntronicSNV	-	4/9	1
2-209113093-T-C	c.414A>G	p.Q138=	Synonymous	4/10	-	1
2-209113094-T-C	c.413A>G	p.Q138R	Missense	4/10	-	1
2-209113095-G-A	c.412C>T	p.Q138*	Nonsense	4/10	-	4
2-209113095-G-T	c.412C>A	p.Q138K	Missense	4/10	-	1
2-209113096-A-G	c.411T>C	p.D137=	Synonymous	4/10	-	1
2-209113097-T-C	c.410A>G	p.D137G	Missense	4/10	-	1
2-209113098-C-A	c.409G>T	p.D137Y	Missense	4/10	-	1
2-209113098-C-T	c.409G>A	p.D137N	Missense	4/10	-	1
2-209113099-C-A	c.408G>T	p.G136=	Synonymous	4/10	-	1
2-209113099-C-G	c.408G>C	p.G136=	Synonymous	4/10	-	1
2-209113099-C-T	c.408G>A	p.G136=	Synonymous	4/10	-	1
2-209113100-C-T	c.407G>A	p.G136E	Missense	4/10	-	2
2-209113097-TC-T	c.409del	p.D137Ifs*16	Frameshift	4/10	-	1
2-209113101-C-G	c.406G>C	p.G136R	Missense	4/10	-	1
2-209113101-C-T	c.406G>A	p.G136R	Missense	4/10	-	2
2-209113102-A-C	c.405T>G	p.Y135*	Nonsense	4/10	-	1
2-209113102-A-G	c.405T>C	p.Y135=	Synonymous	4/10	-	1
2-209113103-T-A	c.404A>T	p.Y135F	Missense	4/10	-	1
2-209113103-TA-GC	c.403_404delinsGC	p.Y135A	Missense	4/10	-	1
2-209113103-T-C	c.404A>G	p.Y135C	Missense	4/10	-	1
2-209113104-A-G	c.403T>C	p.Y135H	Missense	4/10	-	1
2-209113105-A-C	c.402T>G	p.A134=	Synonymous	4/10	-	1
2-209113105-A-G	c.402T>C	p.A134=	Synonymous	4/10	-	1
2-209113105-A-T	c.402T>A	p.A134=	Synonymous	4/10	-	1
2-209113106-G-A	c.401C>T	p.A134V	Missense	4/10	-	2
2-209113106-G-C	c.401C>G	p.A134G	Missense	4/10	-	1
2-209113106-G-T	c.401C>A	p.A134D	Missense	4/10	-	14
2-209113107-C-T	c.400G>A	p.A134T	Missense	4/10	-	1
2-209113108-A-C	c.399T>G	p.H133Q	Missense	4/10	-	7
2-209113108-A-G	c.399T>C	p.H133=	Synonymous	4/10	-	1
2-209113108-A-T	c.399T>A	p.H133Q	Missense	4/10	-	8
2-209113109-T-C	c.398A>G	p.H133R	Missense	4/10	-	2
2-209113109-T-G	c.398A>C	p.H133P	Missense	4/10	-	1
2-209113109-TG-GC	c.397_398delinsGC	p.H133A	Missense	4/10	-	2
2-209113109-T-TC	c.397_398insG	p.H133Rfs*11	Frameshift	4/10	-	1
2-209113110-G-A	c.397C>T	p.H133Y	Missense	4/10	-	2
2-209113111-A-C	c.396T>G	p.R132=	Synonymous	4/10	-	3
2-209113111-ACG-CAT	c.394_396delinsATG	p.R132M	Missense	4/10	-	4
2-209113111-ACG-CCA	c.394_396delinsTGG	p.R132W	Missense	4/10	-	4
2-209113111-ACG-CTC	c.394_396delinsGAG	p.R132E	Missense	4/10	-	3
2-209113111-ACG-CTT	c.394_396delinsAAG	p.R132K	Missense	4/10	-	8
2-209113111-ACG-TCA	c.394_396delinsTGA	p.R132*	Nonsense	4/10	-	39
2-209113111-AC-TT	c.395_396delinsAA	p.R132Q	Missense	4/10	-	29
2-209113111-A-G	c.396T>C	p.R132=	Synonymous	4/10	-	3
2-209113111-A-T	c.396T>A	p.R132=	Synonymous	4/10	-	3
2-209113112-C-A	c.395G>T	p.R132L	Missense	4/10	-	307
2-209113112-C-G	c.395G>C	p.R132P	Missense	4/10	-	27
2-209113112-CG-AA	c.394_395delinsTT	p.R132F	Missense	4/10	-	9
2-209113112-CG-AC	c.394_395delinsGT	p.R132V	Missense	4/10	-	32
2-209113112-CG-AT	c.394_395delinsAT	p.R132I	Missense	4/10	-	6
2-209113112-CG-GC	c.394_395delinsGC	p.R132A	Missense	4/10	-	5
2-209113112-CG-GT	c.394_395delinsAC	p.R132T	Missense	4/10	-	1
2-209113112-CG-TA	c.394_395delinsTA	p.R132Y	Missense	4/10	-	1
2-209113112-CG-TC	c.394_395delinsGA	p.R132D	Missense	4/10	-	2
2-209113112-CG-TT	c.394_395delinsAA	p.R132N	Missense	4/10	-	3
2-209113112-C-T	c.395G>A	p.R132H	Missense	4/10	-	2523
2-209113113-G-A	c.394C>T	p.R132C	Missense	4/10	-	921
2-209113113-G-C	c.394C>G	p.R132G	Missense	4/10	-	400
2-209113113-G-T	c.394C>A	p.R132S	Missense	4/10	-	370
2-209113114-A-C	c.393T>G	p.G131=	Synonymous	4/10	-	1
2-209113114-A-G	c.393T>C	p.G131=	Synonymous	4/10	-	2
2-209113114-A-T	c.393T>A	p.G131=	Synonymous	4/10	-	2
2-209113115-C-A	c.392G>T	p.G131V	Missense	4/10	-	1
2-209113115-C-G	c.392G>C	p.G131A	Missense	4/10	-	3
2-209113115-C-T	c.392G>A	p.G131D	Missense	4/10	-	3
2-209113114-AC-A	c.392del	p.G131Vfs*22	Frameshift	4/10	-	1
2-209113116-C-T	c.391G>A	p.G131S	Missense	4/10	-	3
2-209113117-T-C	c.390A>G	p.I130M	Missense	4/10	-	9
2-209113118-A-G	c.389T>C	p.I130T	Missense	4/10	-	1
2-209113119-T-C	c.388A>G	p.I130V	Missense	4/10	-	14
2-209113120-G-A	c.387C>T	p.I129=	Synonymous	4/10	-	3
2-209113120-G-T	c.387C>A	p.I129=	Synonymous	4/10	-	2
2-209113121-A-G	c.386T>C	p.I129T	Missense	4/10	-	1
2-209113122-T-C	c.385A>G	p.I129V	Missense	4/10	-	1
2-209113123-G-A	c.384C>T	p.I128=	Synonymous	4/10	-	1
2-209113123-G-T	c.384C>A	p.I128=	Synonymous	4/10	-	1
2-209113124-A-C	c.383T>G	p.I128S	Missense	4/10	-	2
2-209113124-A-G	c.383T>C	p.I128T	Missense	4/10	-	1
2-209113124-A-T	c.383T>A	p.I128N	Missense	4/10	-	1
2-209113125-T-A	c.382A>T	p.I128F	Missense	4/10	-	1
2-209113125-T-C	c.382A>G	p.I128V	Missense	4/10	-	6
2-209113126-A-C	c.381T>G	p.P127=	Synonymous	4/10	-	1
2-209113126-A-G	c.381T>C	p.P127=	Synonymous	4/10	-	1
2-209113126-A-T	c.381T>A	p.P127=	Synonymous	4/10	-	1
2-209113127-G-A	c.380C>T	p.P127L	Missense	4/10	-	2
2-209113126-AG-A	c.380del	p.P127Lfs*4	Frameshift	4/10	-	1
2-209113128-G-A	c.379C>T	p.P127S	Missense	4/10	-	3
2-209113128-G-T	c.379C>A	p.P127T	Missense	4/10	-	1
2-209113129-T-C	c.378A>G	p.K126=	Synonymous	4/10	-	3
2-209113130-T-C	c.377A>G	p.K126R	Missense	4/10	-	7
2-209113131-T-C	c.376A>G	p.K126E	Missense	4/10	-	1
2-209113128-G-GT	c.378dup	p.P127Tfs*17	Frameshift	4/10	-	1
2-209113128-GT-G	c.378del	p.K126Nfs*5	Frameshift	4/10	-	1
2-209113132-T-A	c.375A>T	p.V125=	Synonymous	4/10	-	2
2-209113132-T-C	c.375A>G	p.V125=	Synonymous	4/10	-	3
2-209113132-T-G	c.375A>C	p.V125=	Synonymous	4/10	-	2
2-209113132-TTAC-T	c.373_375del	p.V125del	InFrameDeletion	4/10	-	1
2-209113133-A-C	c.374T>G	p.V125G	Missense	4/10	-	2
2-209113133-A-G	c.374T>C	p.V125A	Missense	4/10	-	1
2-209113134-C-T	c.373G>A	p.V125I	Missense	4/10	-	3
2-209113135-C-A	c.372G>T	p.W124C	Missense	4/10	-	1
2-209113133-AC-A	c.373del	p.V125*	Frameshift	4/10	-	1
2-209113135-C-T	c.372G>A	p.W124*	Nonsense	4/10	-	4
2-209113136-C-A	c.371G>T	p.W124L	Missense	4/10	-	2
2-209113136-C-T	c.371G>A	p.W124*	Nonsense	4/10	-	4
2-209113137-A-G	c.370T>C	p.W124R	Missense	4/10	-	1
2-209113137-A-T	c.370T>A	p.W124R	Missense	4/10	-	1
2-209113138-T-A	c.369A>T	p.G123=	Synonymous	4/10	-	1
2-209113138-T-C	c.369A>G	p.G123=	Synonymous	4/10	-	2
2-209113138-T-G	c.369A>C	p.G123=	Synonymous	4/10	-	1
2-209113139-C-T	c.368G>A	p.G123E	Missense	4/10	-	8
2-209113138-TC-T	c.368del	p.G123Dfs*3	Frameshift	4/10	-	1
2-209113140-C-G	c.367G>C	p.G123R	Missense	4/10	-	17
2-209113140-C-T	c.367G>A	p.G123R	Missense	4/10	-	23
2-209113141-ACT-TCA	c.364_366delinsTGA	p.S122*	Nonsense	4/10	-	1
2-209113141-A-G	c.366T>C	p.S122=	Synonymous	4/10	-	2
2-209113141-A-T	c.366T>A	p.S122R	Missense	4/10	-	2
2-209113142-C-G	c.365G>C	p.S122T	Missense	4/10	-	1
2-209113142-C-T	c.365G>A	p.S122N	Missense	4/10	-	2
2-209113143-T-C	c.364A>G	p.S122G	Missense	4/10	-	1
2-209113143-T-G	c.364A>C	p.S122R	Missense	4/10	-	1
2-209113144-C-A	c.363G>T	p.V121=	Synonymous	4/10	-	1
2-209113144-C-G	c.363G>C	p.V121=	Synonymous	4/10	-	2
2-209113144-C-T	c.363G>A	p.V121=	Synonymous	4/10	-	2
2-209113144-C-CA	c.362dup	p.S122Efs*22	Frameshift	4/10	-	1
2-209113145-A-C	c.362T>G	p.V121G	Missense	4/10	-	1
2-209113145-A-G	c.362T>C	p.V121A	Missense	4/10	-	2
2-209113146-C-A	c.361G>T	p.V121L	Missense	4/10	-	1
2-209113146-C-T	c.361G>A	p.V121M	Missense	4/10	-	1
2-209113147-A-C	c.360T>G	p.L120=	Synonymous	4/10	-	1
2-209113147-A-G	c.360T>C	p.L120=	Synonymous	4/10	-	1
2-209113147-A-T	c.360T>A	p.L120=	Synonymous	4/10	-	1
2-209113146-C-CA	c.360dup	p.V121Cfs*23	Frameshift	4/10	-	2
2-209113148-A-C	c.359T>G	p.L120R	Missense	4/10	-	2
2-209113148-AG-GC	c.358_359delinsGC	p.L120A	Missense	4/10	-	1
2-209113148-A-T	c.359T>A	p.L120H	Missense	4/10	-	1
2-209113149-G-C	c.358C>G	p.L120V	Missense	4/10	-	1
2-209113151-C-A	c.356G>T	p.R119L	Missense	4/10	-	3
2-209113151-C-G	c.356G>C	p.R119P	Missense	4/10	-	4
2-209113151-C-T	c.356G>A	p.R119Q	Missense	4/10	-	18
2-209113152-G-A	c.355C>T	p.R119W	Missense	4/10	-	10
2-209113153-G-A	c.354C>T	p.P118=	Synonymous	4/10	-	1
2-209113154-G-A	c.353C>T	p.P118L	Missense	4/10	-	7
2-209113154-G-T	c.353C>A	p.P118H	Missense	4/10	-	2
2-209113155-G-A	c.352C>T	p.P118S	Missense	4/10	-	3
2-209113155-G-T	c.352C>A	p.P118T	Missense	4/10	-	3
2-209113151-C-CG	c.355dup	p.R119Pfs*25	Frameshift	4/10	-	1
2-209113151-CG-C	c.355del	p.R119Gfs*3	Frameshift	4/10	-	1
2-209113156-G-A	c.351C>T	p.I117=	Synonymous	4/10	-	4
2-209113156-G-T	c.351C>A	p.I117=	Synonymous	4/10	-	2
2-209113157-A-AG	c.349_350insC	p.I117Tfs*27	Frameshift	4/10	-	1
2-209113157-A-G	c.350T>C	p.I117T	Missense	4/10	-	1
2-209113158-T-C	c.349A>G	p.I117V	Missense	4/10	-	1
2-209113159-A-C	c.348T>G	p.N116K	Missense	4/10	-	1
2-209113159-A-T	c.348T>A	p.N116K	Missense	4/10	-	1
2-209113160-T-C	c.347A>G	p.N116S	Missense	4/10	-	3
2-209113160-T-G	c.347A>C	p.N116T	Missense	4/10	-	2
2-209113161-T-TA	c.345_346insT	p.N116*	Nonsense	4/10	-	1
2-209113159-A-AT	c.347dup	p.N116Kfs*28	Frameshift	4/10	-	1
2-209113159-AT-A	c.347del	p.N116Ifs*6	Frameshift	4/10	-	2
2-209113164-T-C	c.343A>G	p.K115E	Missense	4/10	-	2
2-209113164-T-G	c.343A>C	p.K115Q	Missense	4/10	-	1
2-209113113-G-GACCTATGATGATAGGTTTTACCCATCCACTCACAAGCCGGGGGATATTTTTGAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATCATTCCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAA	c.393_394insTTTTTTTTTCAAGCAGAAGACGGCATACGAGATGGAATGATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAAAAATATCCCCCGGCTTGTGAGTGGATGGGTAAAACCTATCATCATAGGT	p.R132Ffs*15	Frameshift	4/10	-	1
2-209113113-G-GACCTATGATGATAGGTTTTACCCATCCACTCACAAGCCGGGGGATATTTTTGAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCGTGAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAA	c.393_394insTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCACGGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAAAAATATCCCCCGGCTTGTGAGTGGATGGGTAAAACCTATCATCATAGGT	p.R132Ffs*15	Frameshift	4/10	-	1
2-209113164-T-TG	c.342dup	p.K115Qfs*29	Frameshift	4/10	-	1
2-209113165-G-A	c.342C>T	p.C114=	Synonymous	4/10	-	1
2-209113165-G-C	c.342C>G	p.C114W	Missense	4/10	-	1
2-209113166-C-A	c.341G>T	p.C114F	Missense	4/10	-	1
2-209113166-CAGATAATGGCTTCTCTGAAGACCGTGCCACCCAGAATATTTCGTATGGTGC-AGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCAGTTCAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAA	c.290_341delinsTTTTTTTTCAAGCAGAAGACGGCATACGAGATTGAACTGGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT	p.G97Vfs*12	Frameshift	4/10	-	1
2-209113166-C-T	c.341G>A	p.C114Y	Missense	4/10	-	2
2-209113166-C-G	c.341G>C	p.C114S	Missense	4/10	-	1
2-209113167-A-T	c.340T>A	p.C114S	Missense	4/10	-	2
2-209113168-G-A	c.339C>T	p.I113=	Synonymous	4/10	-	1
2-209113168-G-GT	c.338_339insA	p.C114Lfs*30	Frameshift	4/10	-	1
2-209113168-G-T	c.339C>A	p.I113=	Synonymous	4/10	-	1
2-209113169-A-C	c.338T>G	p.I113S	Missense	4/10	-	1
2-209113169-A-G	c.338T>C	p.I113T	Missense	4/10	-	4
2-209113170-T-C	c.337A>G	p.I113V	Missense	4/10	-	6
2-209113170-T-G	c.337A>C	p.I113L	Missense	4/10	-	2
2-209113172-A-G	c.335T>C	p.I112T	Missense	4/10	-	2
2-209113173-T-C	c.334A>G	p.I112V	Missense	4/10	-	3
2-209113173-T-G	c.334A>C	p.I112L	Missense	4/10	-	1
2-209113175-G-A	c.332C>T	p.A111V	Missense	4/10	-	5
2-209113175-G-T	c.332C>A	p.A111D	Missense	4/10	-	2
2-209113176-C-T	c.331G>A	p.A111T	Missense	4/10	-	1
2-209113177-T-A	c.330A>T	p.E110D	Missense	4/10	-	1
2-209113177-T-C	c.330A>G	p.E110=	Synonymous	4/10	-	1
2-209113177-T-G	c.330A>C	p.E110D	Missense	4/10	-	1
2-209113179-C-CA	c.327_328insT	p.E110*	Nonsense	4/10	-	1
2-209113179-C-T	c.328G>A	p.E110K	Missense	4/10	-	5
2-209113181-C-CG	c.325_326insC	p.R109Tfs*35	Frameshift	4/10	-	1
2-209113181-C-T	c.326G>A	p.R109K	Missense	4/10	-	19
2-209113181-CT-GC	c.325_326delinsGC	p.R109A	Missense	4/10	-	1
2-209113182-T-C	c.325A>G	p.R109G	Missense	4/10	-	1
2-209113183-G-T	c.324C>A	p.F108L	Missense	4/10	-	1
2-209113185-A-C	c.322T>G	p.F108V	Missense	4/10	-	1
2-209113185-A-G	c.322T>C	p.F108L	Missense	4/10	-	1
2-209113187-A-C	c.320T>G	p.V107G	Missense	4/10	-	1
2-209113187-A-G	c.320T>C	p.V107A	Missense	4/10	-	1
2-209113187-A-T	c.320T>A	p.V107D	Missense	4/10	-	1
2-209113188-C-T	c.319G>A	p.V107I	Missense	4/10	-	1
2-209113187-AC-A	c.319del	p.V107Sfs*15	Frameshift	4/10	-	1
2-209113189-C-A	c.318G>T	p.T106=	Synonymous	4/10	-	1
2-209113189-C-G	c.318G>C	p.T106=	Synonymous	4/10	-	2
2-209113189-C-T	c.318G>A	p.T106=	Synonymous	4/10	-	1
2-209113190-G-A	c.317C>T	p.T106M	Missense	4/10	-	6
2-209113190-G-C	c.317C>G	p.T106R	Missense	4/10	-	1
2-209113190-G-T	c.317C>A	p.T106K	Missense	4/10	-	1
2-209113191-T-A	c.316A>T	p.T106S	Missense	4/10	-	1
2-209113191-T-C	c.316A>G	p.T106A	Missense	4/10	-	1
2-209113191-T-G	c.316A>C	p.T106P	Missense	4/10	-	1
2-209113192-G-A	c.315C>T	p.G105=	Synonymous	4/10	-	92
2-209113192-G-C	c.315C>G	p.G105=	Synonymous	4/10	-	24
2-209113192-G-T	c.315C>A	p.G105=	Synonymous	4/10	-	24
2-209113193-CC-TT	c.313_314delinsAA	p.G105N	Missense	4/10	-	1
2-209113193-C-T	c.314G>A	p.G105D	Missense	4/10	-	6
2-209113194-C-T	c.313G>A	p.G105S	Missense	4/10	-	1
2-209113192-GCCA-G	c.312_314del	p.G105del	InFrameDeletion	4/10	-	1
2-209113195-A-G	c.312T>C	p.G104=	Synonymous	4/10	-	1
2-209113196-C-A	c.311G>T	p.G104V	Missense	4/10	-	1
2-209113196-C-T	c.311G>A	p.G104D	Missense	4/10	-	1
2-209113197-C-T	c.310G>A	p.G104S	Missense	4/10	-	1
2-209113198-C-A	c.309G>T	p.L103=	Synonymous	4/10	-	1
2-209113198-C-G	c.309G>C	p.L103=	Synonymous	4/10	-	1
2-209113198-C-T	c.309G>A	p.L103=	Synonymous	4/10	-	1
2-209113200-G-A	c.307C>T	p.L103=	Synonymous	4/10	-	1
2-209113200-G-T	c.307C>A	p.L103M	Missense	4/10	-	2
2-209113202-A-C	c.305T>G	p.I102S	Missense	4/10	-	1
2-209113202-A-G	c.305T>C	p.I102T	Missense	4/10	-	12
2-209113202-A-T	c.305T>A	p.I102N	Missense	4/10	-	2
2-209113203-T-A	c.304A>T	p.I102F	Missense	4/10	-	1
2-209113203-T-G	c.304A>C	p.I102L	Missense	4/10	-	1
2-209113206-T-A	c.301A>T	p.N101Y	Missense	4/10	-	2
2-209113206-T-C	c.301A>G	p.N101D	Missense	4/10	-	1
2-209113204-A-AT	c.302dup	p.N101Kfs*43	Frameshift	4/10	-	1
2-209113208-C-A	c.299G>T	p.R100L	Missense	4/10	-	1
2-209113208-CG-GC	c.298_299delinsGC	p.R100A	Missense	4/10	-	3
2-209113208-CG-TC	c.298_299delinsGA	p.R100E	Missense	4/10	-	1
2-209113208-CG-TT	c.298_299delinsAA	p.R100K	Missense	4/10	-	1
2-209113208-C-T	c.299G>A	p.R100Q	Missense	4/10	-	28
2-209113209-CG-C	c.298del	p.R100Efs*22	Frameshift	4/10	-	1
2-209113209-G-A	c.298C>T	p.R100*	Nonsense	4/10	-	8
2-209113209-G-C	c.298C>G	p.R100G	Missense	4/10	-	1
2-209113209-G-T	c.298C>A	p.R100=	Synonymous	4/10	-	1
2-209113210-T-C	c.297A>G	p.I99M	Missense	4/10	-	20
2-209113211-A-G	c.296T>C	p.I99T	Missense	4/10	-	1
2-209113211-A-T	c.296T>A	p.I99K	Missense	4/10	-	1
2-209113213-G-A	c.294C>T	p.T98=	Synonymous	4/10	-	1
2-209113213-G-C	c.294C>G	p.T98=	Synonymous	4/10	-	1
2-209113213-G-T	c.294C>A	p.T98=	Synonymous	4/10	-	1
2-209113214-G-A	c.293C>T	p.T98I	Missense	4/10	-	1
2-209113214-G-T	c.293C>A	p.T98N	Missense	4/10	-	2
2-209113214-GT-CA	c.292_293delinsTG	p.T98C	Missense	4/10	-	1
2-209113214-GT-CC	c.292_293delinsGG	p.T98G	Missense	4/10	-	197
2-209113215-T-C	c.292A>G	p.T98A	Missense	4/10	-	1
2-209113215-T-G	c.292A>C	p.T98P	Missense	4/10	-	1
2-209113217-C-T	c.290G>A	p.G97D	Missense	4/10	-	19
2-209113219-A-C	c.288T>G	p.N96K	Missense	4/10	-	1
2-209113219-A-T	c.288T>A	p.N96K	Missense	4/10	-	1
2-209113220-T-A	c.287A>T	p.N96I	Missense	4/10	-	3
2-209113220-T-C	c.287A>G	p.N96S	Missense	4/10	-	1
2-209113221-T-G	c.286A>C	p.N96H	Missense	4/10	-	1
2-209113222-T-A	c.285A>T	p.P95=	Synonymous	4/10	-	1
2-209113222-T-C	c.285A>G	p.P95=	Synonymous	4/10	-	1
2-209113222-T-G	c.285A>C	p.P95=	Synonymous	4/10	-	1
2-209113222-TG-AT	c.284_285delinsAT	p.P95H	Missense	4/10	-	3
2-209113223-G-A	c.284C>T	p.P95L	Missense	4/10	-	4
2-209113223-G-C	c.284C>G	p.P95R	Missense	4/10	-	3
2-209113223-G-T	c.284C>A	p.P95Q	Missense	4/10	-	2
2-209113224-G-C	c.283C>G	p.P95A	Missense	4/10	-	2
2-209113225-T-A	c.282A>T	p.S94=	Synonymous	4/10	-	1
2-209113225-T-C	c.282A>G	p.S94=	Synonymous	4/10	-	1
2-209113225-T-G	c.282A>C	p.S94=	Synonymous	4/10	-	1
2-209113226-G-C	c.281C>G	p.S94*	Nonsense	4/10	-	2
2-209113227-A-C	c.280T>G	p.S94A	Missense	4/10	-	1
2-209113227-A-G	c.280T>C	p.S94P	Missense	4/10	-	2
2-209113227-A-T	c.280T>A	p.S94T	Missense	4/10	-	1
2-209113228-T-A	c.279A>T	p.K93N	Missense	4/10	-	2
2-209113228-T-C	c.279A>G	p.K93=	Synonymous	4/10	-	1
2-209113228-T-G	c.279A>C	p.K93N	Missense	4/10	-	2
2-209113229-T-C	c.278A>G	p.K93R	Missense	4/10	-	2
2-209113229-T-G	c.278A>C	p.K93T	Missense	4/10	-	1
2-209113230-T-C	c.277A>G	p.K93E	Missense	4/10	-	1
2-209113231-C-T	c.276G>A	p.W92*	Nonsense	4/10	-	2
2-209113232-C-A	c.275G>T	p.W92L	Missense	4/10	-	1
2-209113232-C-T	c.275G>A	p.W92*	Nonsense	4/10	-	1
2-209113233-A-C	c.274T>G	p.W92G	Missense	4/10	-	2
2-209113233-A-G	c.274T>C	p.W92R	Missense	4/10	-	9
2-209113233-A-T	c.274T>A	p.W92R	Missense	4/10	-	9
2-209113234-C-A	c.273G>T	p.M91I	Missense	4/10	-	1
2-209113234-C-G	c.273G>C	p.M91I	Missense	4/10	-	1
2-209113234-C-T	c.273G>A	p.M91I	Missense	4/10	-	2
2-209113235-A-C	c.272T>G	p.M91R	Missense	4/10	-	1
2-209113235-A-G	c.272T>C	p.M91T	Missense	4/10	-	1
2-209113235-A-T	c.272T>A	p.M91K	Missense	4/10	-	1
2-209113239-G-A	c.268C>T	p.Q90*	Nonsense	4/10	-	2
2-209113239-G-T	c.268C>A	p.Q90K	Missense	4/10	-	1
2-209113240-T-G	c.267A>C	p.K89N	Missense	4/10	-	1
2-209113243-C-A	c.264G>T	p.L88F	Missense	4/10	-	2
2-209113243-C-G	c.264G>C	p.L88F	Missense	4/10	-	2
2-209113243-C-T	c.264G>A	p.L88=	Synonymous	4/10	-	7
2-209113245-A-C	c.262T>G	p.L88V	Missense	4/10	-	1
2-209113245-A-G	c.262T>C	p.L88=	Synonymous	4/10	-	6
2-209113246-C-A	c.261G>T	p.K87N	Missense	4/10	-	2
2-209113246-C-G	c.261G>C	p.K87N	Missense	4/10	-	1
2-209113246-C-CT	c.260dup	p.L88Vfs*56	Frameshift	4/10	-	1
2-209113248-T-C	c.259A>G	p.K87E	Missense	4/10	-	1
2-209113251-A-C	c.256T>G	p.F86V	Missense	4/10	-	1
2-209113251-A-T	c.256T>A	p.F86I	Missense	4/10	-	2
2-209113252-C-T	c.255G>A	p.E85=	Synonymous	4/10	-	1
2-209113253-T-A	c.254A>T	p.E85V	Missense	4/10	-	1
2-209113253-T-C	c.254A>G	p.E85G	Missense	4/10	-	1
2-209113254-C-G	c.253G>C	p.E85Q	Missense	4/10	-	1
2-209113256-T-C	c.251A>G	p.E84G	Missense	4/10	-	2
2-209113256-T-G	c.251A>C	p.E84A	Missense	4/10	-	6
2-209113257-C-G	c.250G>C	p.E84Q	Missense	4/10	-	2
2-209113257-C-T	c.250G>A	p.E84K	Missense	4/10	-	5
2-209113259-A-C	c.248T>G	p.V83G	Missense	4/10	-	1
2-209113259-A-T	c.248T>A	p.V83D	Missense	4/10	-	2
2-209113260-C-A	c.247G>T	p.V83F	Missense	4/10	-	2
2-209113261-C-A	c.246G>T	p.R82S	Missense	4/10	-	1
2-209113261-CCT-ACA	c.244_246delinsTGT	p.R82C	Missense	4/10	-	2
2-209113261-CCT-ATG	c.244_246delinsCAT	p.R82H	Missense	4/10	-	5
2-209113261-C-G	c.246G>C	p.R82S	Missense	4/10	-	2
2-209113261-C-T	c.246G>A	p.R82=	Synonymous	4/10	-	1
2-209113259-AC-A	c.247del	p.V83Lfs*6	Frameshift	4/10	-	1
2-209113262-C-A	c.245G>T	p.R82M	Missense	4/10	-	2
2-209113262-C-T	c.245G>A	p.R82K	Missense	4/10	-	8
2-209113263-T-C	c.244A>G	p.R82G	Missense	4/10	-	2
2-209113263-T-TC	c.243dup	p.R82Efs*3	Frameshift	4/10	-	1
2-209113264-C-A	c.243G>T	p.K81N	Missense	4/10	-	6
2-209113264-C-G	c.243G>C	p.K81N	Missense	4/10	-	8
2-209113264-C-T	c.243G>A	p.K81=	Synonymous	4/10	-	2
2-209113265-T-C	c.242A>G	p.K81R	Missense	4/10	-	1
2-209113266-T-G	c.241A>C	p.K81Q	Missense	4/10	-	2
2-209113269-C-T	c.238G>A	p.E80K	Missense	4/10	-	1
2-209113270-A-C	c.237T>G	p.D79E	Missense	4/10	-	1
2-209113271-T-A	c.236A>T	p.D79V	Missense	4/10	-	3
2-209113271-T-C	c.236A>G	p.D79G	Missense	4/10	-	1
2-209113271-TC-AG	c.235_236delinsCT	p.D79L	Missense	4/10	-	1
2-209113272-C-G	c.235G>C	p.D79H	Missense	4/10	-	1
2-209113272-C-T	c.235G>A	p.D79N	Missense	4/10	-	2
2-209113274-G-A	c.233C>T	p.P78L	Missense	4/10	-	1
2-209113274-G-C	c.233C>G	p.P78R	Missense	4/10	-	1
2-209113273-AG-A	c.233del	p.P78Lfs*11	Frameshift	4/10	-	1
2-209113275-G-A	c.232C>T	p.P78S	Missense	4/10	-	1
2-209113275-G-T	c.232C>A	p.P78T	Missense	4/10	-	1
2-209113276-A-C	c.231T>G	p.T77=	Synonymous	4/10	-	1
2-209113276-A-G	c.231T>C	p.T77=	Synonymous	4/10	-	1
2-209113276-A-T	c.231T>A	p.T77=	Synonymous	4/10	-	1
2-209113278-T-C	c.229A>G	p.T77A	Missense	4/10	-	5
2-209113278-T-G	c.229A>C	p.T77P	Missense	4/10	-	1
2-209113279-G-C	c.228C>G	p.I76M	Missense	4/10	-	1
2-209113280-A-G	c.227T>C	p.I76T	Missense	4/10	-	4
2-209113280-A-T	c.227T>A	p.I76N	Missense	4/10	-	1
2-209113281-T-C	c.226A>G	p.I76V	Missense	4/10	-	1
2-209113284-T-A	c.223A>T	p.T75S	Missense	4/10	-	1
2-209113284-T-C	c.223A>G	p.T75A	Missense	4/10	-	2
2-209113285-G-A	c.222C>T	p.A74=	Synonymous	4/10	-	2
2-209113285-G-C	c.222C>G	p.A74=	Synonymous	4/10	-	1
2-209113285-GGC-CTT	c.220_222delinsAAG	p.A74K	Missense	4/10	-	3
2-209113285-GGC-TTA	c.220_222delinsTAA	p.A74*	Nonsense	4/10	-	4
2-209113285-GGC-TTG	c.220_222delinsCAA	p.A74Q	Missense	4/10	-	2
2-209113285-G-T	c.222C>A	p.A74=	Synonymous	4/10	-	1
2-209113284-TG-T	c.222del	p.T75Lfs*14	Frameshift	4/10	-	2
2-209113286-G-A	c.221C>T	p.A74V	Missense	4/10	-	3
2-209113286-GC-AG	c.220_221delinsCT	p.A74L	Missense	4/10	-	3
2-209113287-C-A	c.220G>T	p.A74S	Missense	4/10	-	1
2-209113287-C-G	c.220G>C	p.A74P	Missense	4/10	-	1
2-209113287-C-T	c.220G>A	p.A74T	Missense	4/10	-	1
2-209113288-A-C	c.219T>G	p.C73W	Missense	4/10	-	1
2-209113288-A-G	c.219T>C	p.C73=	Synonymous	4/10	-	1
2-209113288-A-T	c.219T>A	p.C73*	Nonsense	4/10	-	1
2-209113289-C-T	c.218G>A	p.C73Y	Missense	4/10	-	2
2-209113292-T-C	c.215A>G	p.K72R	Missense	4/10	-	1
2-209113292-T-G	c.215A>C	p.K72T	Missense	4/10	-	2
2-209113290-A-AT	c.216dup	p.C73Mfs*7	Frameshift	4/10	-	1
2-209113293-T-G	c.214A>C	p.K72Q	Missense	4/10	-	2
2-209113295-A-C	c.212T>G	p.V71G	Missense	4/10	-	1
2-209113295-A-G	c.212T>C	p.V71A	Missense	4/10	-	3
2-209113296-C-A	c.211G>T	p.V71F	Missense	4/10	-	1
2-209113296-C-G	c.211G>C	p.V71L	Missense	4/10	-	1
2-209113296-C-T	c.211G>A	p.V71I	Missense	4/10	-	24
2-209113297-G-A	c.210C>T	p.G70=	Synonymous	4/10	-	5
2-209113297-G-C	c.210C>G	p.G70=	Synonymous	4/10	-	3
2-209113297-G-T	c.210C>A	p.G70=	Synonymous	4/10	-	3
2-209113298-C-T	c.209G>A	p.G70D	Missense	4/10	-	11
2-209113297-GC-G	c.209del	p.G70Afs*19	Frameshift	4/10	-	1
2-209113299-C-A	c.208G>T	p.G70C	Missense	4/10	-	1
2-209113299-C-T	c.208G>A	p.G70S	Missense	4/10	-	1
2-209113300-AA-CT	c.206_207delinsAG	p.V69E	Missense	4/10	-	1
2-209113301-A-C	c.206T>G	p.V69G	Missense	4/10	-	1
2-209113301-AC-GG	c.205_206delinsCC	p.V69P	Missense	4/10	-	1
2-209113301-A-T	c.206T>A	p.V69D	Missense	4/10	-	1
2-209113302-C-A	c.205G>T	p.V69F	Missense	4/10	-	1
2-209113303-A-AT	c.203dup	p.N68Kfs*12	Frameshift	4/10	-	1
2-209113306-A-C	c.201T>G	p.H67Q	Missense	4/10	-	1
2-209113306-A-G	c.201T>C	p.H67=	Synonymous	4/10	-	1
2-209113306-A-T	c.201T>A	p.H67Q	Missense	4/10	-	1
2-209113307-T-A	c.200A>T	p.H67L	Missense	4/10	-	1
2-209113307-T-C	c.200A>G	p.H67R	Missense	4/10	-	2
2-209113308-G-A	c.199C>T	p.H67Y	Missense	4/10	-	1
2-209113309-C-A	c.198G>T	p.K66N	Missense	4/10	-	2
2-209113309-C-G	c.198G>C	p.K66N	Missense	4/10	-	1
2-209113310-T-G	c.197A>C	p.K66T	Missense	4/10	-	1
2-209113312-C-T	c.195G>A	p.K65=	Synonymous	4/10	-	1
2-209113313-T-C	c.194A>G	p.K65R	Missense	4/10	-	1
2-209113313-T-G	c.194A>C	p.K65T	Missense	4/10	-	1
2-209113314-T-G	c.193A>C	p.K65Q	Missense	4/10	-	2
2-209113312-C-CT	c.194dup	p.K66Efs*3	Frameshift	4/10	-	1
2-209113316-A-C	c.191T>G	p.I64R	Missense	4/10	-	1
2-209113317-T-A	c.190A>T	p.I64L	Missense	4/10	-	1
2-209113317-T-C	c.190A>G	p.I64V	Missense	4/10	-	1
2-209113317-T-G	c.190A>C	p.I64L	Missense	4/10	-	2
2-209113319-G-A	c.188C>T	p.A63V	Missense	4/10	-	2
2-209113319-G-T	c.188C>A	p.A63D	Missense	4/10	-	1
2-209113320-C-A	c.187G>T	p.A63S	Missense	4/10	-	3
2-209113320-C-T	c.187G>A	p.A63T	Missense	4/10	-	2
2-209113321-T-A	c.186A>T	p.E62D	Missense	4/10	-	3
2-209113321-T-G	c.186A>C	p.E62D	Missense	4/10	-	1
2-209113320-C-CT	c.186dup	p.A63Sfs*6	Frameshift	4/10	-	1
2-209113323-C-T	c.184G>A	p.E62K	Missense	4/10	-	1
2-209113324-T-A	c.183A>T	p.A61=	Synonymous	4/10	-	6
2-209113324-T-C	c.183A>G	p.A61=	Synonymous	4/10	-	5
2-209113324-T-G	c.183A>C	p.A61=	Synonymous	4/10	-	6
2-209113324-TGC-ACA	c.181_183delinsTGT	p.A61C	Missense	4/10	-	4
2-209113325-G-A	c.182C>T	p.A61V	Missense	4/10	-	1
2-209113325-G-T	c.182C>A	p.A61E	Missense	4/10	-	3
2-209113326-C-A	c.181G>T	p.A61S	Missense	4/10	-	2
2-209113326-C-G	c.181G>C	p.A61P	Missense	4/10	-	1
2-209113326-C-T	c.181G>A	p.A61T	Missense	4/10	-	2
2-209113327-AGC-CTT	c.178_180delinsAAG	p.A60K	Missense	4/10	-	7
2-209113327-AG-CT	c.179_180inv	p.A60E	Missense	4/10	-	1
2-209113328-G-A	c.179C>T	p.A60V	Missense	4/10	-	1
2-209113328-GC-AG	c.178_179delinsCT	p.A60L	Missense	4/10	-	5
2-209113328-GC-AT	c.178_179delinsAT	p.A60I	Missense	4/10	-	1
2-209113328-G-T	c.179C>A	p.A60D	Missense	4/10	-	1
2-209113329-C-G	c.178G>C	p.A60P	Missense	4/10	-	1
2-209113329-C-T	c.178G>A	p.A60T	Missense	4/10	-	1
2-209113331-TC-AA	c.175_176delinsTT	p.D59F	Missense	4/10	-	1
2-209113331-TC-CA	c.175_176delinsTG	p.D59C	Missense	4/10	-	1
2-209113331-T-G	c.176A>C	p.D59A	Missense	4/10	-	1
2-209113332-C-A	c.175G>T	p.D59Y	Missense	4/10	-	1
2-209113333-C-T	c.174G>A	p.K58=	Synonymous	4/10	-	1
2-209113334-T-A	c.173A>T	p.K58M	Missense	4/10	-	2
2-209113334-T-C	c.173A>G	p.K58R	Missense	4/10	-	1
2-209113334-T-G	c.173A>C	p.K58T	Missense	4/10	-	1
2-209113335-T-A	c.172A>T	p.K58*	Nonsense	4/10	-	1
2-209113335-T-G	c.172A>C	p.K58Q	Missense	4/10	-	1
2-209113335-TG-T	c.171del	p.K58Rfs*7	Frameshift	4/10	-	1
2-209113337-G-C	c.170C>G	p.T57S	Missense	4/10	-	2
2-209113338-T-A	c.169A>T	p.T57S	Missense	4/10	-	1
2-209113338-T-C	c.169A>G	p.T57A	Missense	4/10	-	1
2-209113343-T-A	c.164A>T	p.Q55L	Missense	4/10	-	1
2-209113344-G-A	c.163C>T	p.Q55*	Nonsense	4/10	-	1
2-209113345-G-A	c.162C>T	p.D54=	Synonymous	4/10	-	1
2-209113347-C-A	c.160G>T	p.D54Y	Missense	4/10	-	2
2-209113347-C-T	c.160G>A	p.D54N	Missense	4/10	-	5
2-209113349-T-C	c.158A>G	p.N53S	Missense	4/10	-	1
2-209113348-G-GT	c.158dup	p.N53Kfs*16	Frameshift	4/10	-	1
2-209113348-GT-G	c.158del	p.N53Tfs*12	Frameshift	4/10	-	1
2-209113353-T-A	c.154A>T	p.T52S	Missense	4/10	-	1
2-209113353-T-G	c.154A>C	p.T52P	Missense	4/10	-	1
2-209113354-G-A	c.153C>T	p.A51=	Synonymous	4/10	-	2
2-209113354-G-C	c.153C>G	p.A51=	Synonymous	4/10	-	2
2-209113354-GGC-CTT	c.151_153delinsAAG	p.A51K	Missense	4/10	-	1
2-209113354-GG-CT	c.152_153delinsAG	p.A51E	Missense	4/10	-	2
2-209113354-G-T	c.153C>A	p.A51=	Synonymous	4/10	-	2
2-209113353-TG-T	c.153del	p.T52Pfs*13	Frameshift	4/10	-	1
2-209113355-G-A	c.152C>T	p.A51V	Missense	4/10	-	3
2-209113355-G-C	c.152C>G	p.A51G	Missense	4/10	-	3
2-209113355-GC-AA	c.151_152delinsTT	p.A51F	Missense	4/10	-	1
2-209113355-GC-CG	c.151_152delinsCG	p.A51R	Missense	4/10	-	2
2-209113355-GC-TT	c.151_152delinsAA	p.A51N	Missense	4/10	-	1
2-209113355-G-T	c.152C>A	p.A51D	Missense	4/10	-	1
2-209113356-C-A	c.151G>T	p.A51S	Missense	4/10	-	1
2-209113356-C-T	c.151G>A	p.A51T	Missense	4/10	-	4
2-209113357-A-C	c.150T>G	p.D50E	Missense	4/10	-	1
2-209113357-A-G	c.150T>C	p.D50=	Synonymous	4/10	-	1
2-209113357-A-T	c.150T>A	p.D50E	Missense	4/10	-	1
2-209113358-TC-AA	c.148_149delinsTT	p.D50F	Missense	4/10	-	1
2-209113361-C-A	c.146G>T	p.R49L	Missense	4/10	-	1
2-209113361-C-G	c.146G>C	p.R49P	Missense	4/10	-	1
2-209113361-C-T	c.146G>A	p.R49H	Missense	4/10	-	5
2-209113362-G-A	c.145C>T	p.R49C	Missense	4/10	-	25
2-209113362-G-T	c.145C>A	p.R49S	Missense	4/10	-	1
2-209113363-A-T	c.144T>A	p.N48K	Missense	4/10	-	1
2-209113363-AT-CA	c.143_144delinsTG	p.N48M	Missense	4/10	-	1
2-209113364-T-C	c.143A>G	p.N48S	Missense	4/10	-	1
2-209113365-T-C	c.142A>G	p.N48D	Missense	4/10	-	3
2-209113367-T-A	c.140A>T	p.E47V	Missense	4/10	-	1
2-209113367-T-C	c.140A>G	p.E47G	Missense	4/10	-	1
2-209113368-C-G	c.139G>C	p.E47Q	Missense	4/10	-	3
2-209113368-C-T	c.139G>A	p.E47K	Missense	4/10	-	1
2-209113370-A-G	c.137T>C	p.I46T	Missense	4/10	-	1
2-209113371-T-A	c.136A>T	p.I46L	Missense	4/10	-	1
2-209113371-T-C	c.136A>G	p.I46V	Missense	4/10	-	1
2-209113373-C-T	c.134G>A	p.G45D	Missense	4/10	-	1
2-209113374-C-T	c.133G>A	p.G45S	Missense	4/10	-	1
2-209113375-T-A	c.132A>T	p.L44F	Missense	4/10	-	2
2-209113376-A-G	c.131T>C	p.L44S	Missense	4/10	-	1
2-209113375-TA-T	c.131del	p.L44*	Frameshift	4/10	-	1
2-209113375-T-TA	c.131dup	p.L44Ffs*7	Frameshift	4/10	-	1
2-209113379-ATC-A	c.127_128del	p.D43Ffs*7	Frameshift	4/10	-	1
2-209113379-T-C	c.128A>G	p.D43G	Missense	4/10	-	1
2-209113379-T-G	c.128A>C	p.D43A	Missense	4/10	-	1
2-209113380-C-A	c.127G>T	p.D43Y	Missense	4/10	-	1
2-209113380-C-G	c.127G>C	p.D43H	Missense	4/10	-	4
2-209113380-C-T	c.127G>A	p.D43N	Missense	4/10	-	1
2-209113381-A-C	c.126T>G	p.Y42*	Nonsense	4/10	-	2
2-209113381-A-T	c.126T>A	p.Y42*	Nonsense	4/10	-	2
2-209113382-T-A	c.125A>T	p.Y42F	Missense	4/10	-	2
2-209113382-TA-GG	c.124_125delinsCC	p.Y42P	Missense	4/10	-	1
2-209113382-T-C	c.125A>G	p.Y42C	Missense	4/10	-	2
2-209113382-T-G	c.125A>C	p.Y42S	Missense	4/10	-	1
2-209113383-A-G	c.124T>C	p.Y42H	Missense	4/10	-	3
2-209113383-A-T	c.124T>A	p.Y42N	Missense	4/10	-	1
2-209113384-G-A	c.123C>T	p.S41=	Synonymous	4/10	-	1
2-209113388-G-A	c.123-4C>T	-	IntronicSNV	-	3/9	1
2-209116085-C-G	c.122+69G>C	-	IntronicSNV	-	3/9	1
2-209116153-C-G	c.122+1G>C	-	IntronicSNV	-	3/9	1
2-209116154-C-G	c.122G>C	p.S41T	Missense	3/10	-	1
2-209116154-C-T	c.122G>A	p.S41N	Missense	3/10	-	1
2-209116158-G-A	c.118C>T	p.H40Y	Missense	3/10	-	2
2-209116162-A-C	c.114T>G	p.D38E	Missense	3/10	-	1
2-209116162-A-T	c.114T>A	p.D38E	Missense	3/10	-	1
2-209116164-C-A	c.112G>T	p.D38Y	Missense	3/10	-	1
2-209116164-C-CA	c.111_112insT	p.D38*	Nonsense	3/10	-	1
2-209116164-C-T	c.112G>A	p.D38N	Missense	3/10	-	4
2-209116167-A-C	c.109T>G	p.L37V	Missense	3/10	-	1
2-209116172-A-G	c.104T>C	p.V35A	Missense	3/10	-	1
2-209116173-C-A	c.103G>T	p.V35L	Missense	3/10	-	1
2-209116173-C-G	c.103G>C	p.V35L	Missense	3/10	-	1
2-209116173-C-T	c.103G>A	p.V35M	Missense	3/10	-	8
2-209116174-CG-C	c.102del	p.Y34*	Frameshift	3/10	-	1
2-209116174-G-A	c.102C>T	p.Y34=	Synonymous	3/10	-	1
2-209116175-T-C	c.101A>G	p.Y34C	Missense	3/10	-	4
2-209116176-A-C	c.100T>G	p.Y34D	Missense	3/10	-	1
2-209116176-A-G	c.100T>C	p.Y34H	Missense	3/10	-	1
2-209116178-G-A	c.98C>T	p.P33L	Missense	3/10	-	1
2-209116178-G-C	c.98C>G	p.P33R	Missense	3/10	-	2
2-209116179-G-A	c.97C>T	p.P33S	Missense	3/10	-	25
2-209116181-AA-GC	c.94_95delinsGC	p.F32A	Missense	3/10	-	1
2-209116182-A-C	c.94T>G	p.F32V	Missense	3/10	-	12
2-209116183-AAAT-A	c.91_93del	p.I31del	InFrameDeletion	3/10	-	1
2-209116179-GA-G	c.96del	p.Y34Tfs*11	Frameshift	3/10	-	1
2-209116188-G-A	c.88C>T	p.L30F	Missense	3/10	-	2
2-209116188-G-C	c.88C>G	p.L30V	Missense	3/10	-	1
2-209116190-T-C	c.86A>G	p.K29R	Missense	3/10	-	1
2-209116193-T-A	c.83A>T	p.E28V	Missense	3/10	-	1
2-209116194-C-A	c.82G>T	p.E28*	Nonsense	3/10	-	1
2-209116194-C-G	c.82G>C	p.E28Q	Missense	3/10	-	3
2-209116194-C-T	c.82G>A	p.E28K	Missense	3/10	-	1
2-209116195-T-A	c.81A>T	p.K27N	Missense	3/10	-	1
2-209116195-T-C	c.81A>G	p.K27=	Synonymous	3/10	-	1
2-209116195-T-G	c.81A>C	p.K27N	Missense	3/10	-	1
2-209116195-TT-CA	c.80_81delinsTG	p.K27M	Missense	3/10	-	382
2-209116196-T-A	c.80A>T	p.K27I	Missense	3/10	-	3
2-209116196-T-G	c.80A>C	p.K27T	Missense	3/10	-	1
2-209116196-TT-GC	c.79_80delinsGC	p.K27A	Missense	3/10	-	1
2-209116197-T-G	c.79A>C	p.K27Q	Missense	3/10	-	1
2-209116199-A-T	c.77T>A	p.I26N	Missense	3/10	-	1
2-209116201-C-A	c.75G>T	p.L25F	Missense	3/10	-	1
2-209116202-AA-CT	c.73_74delinsAG	p.L25R	Missense	3/10	-	1
2-209116202-AA-GG	c.73_74delinsCC	p.L25P	Missense	3/10	-	1
2-209116203-A-C	c.73T>G	p.L25V	Missense	3/10	-	1
2-209116206-C-A	c.70G>T	p.E24*	Nonsense	3/10	-	1
2-209116206-C-T	c.70G>A	p.E24K	Missense	3/10	-	1
2-209116207-C-A	c.69G>T	p.W23C	Missense	3/10	-	1
2-209116207-C-G	c.69G>C	p.W23C	Missense	3/10	-	1
2-209116207-C-T	c.69G>A	p.W23*	Nonsense	3/10	-	1
2-209116208-C-A	c.68G>T	p.W23L	Missense	3/10	-	1
2-209116208-C-T	c.68G>A	p.W23*	Nonsense	3/10	-	2
2-209116209-A-G	c.67T>C	p.W23R	Missense	3/10	-	1
2-209116209-A-T	c.67T>A	p.W23R	Missense	3/10	-	1
2-209116211-A-C	c.65T>G	p.I22S	Missense	3/10	-	1
2-209116214-A-T	c.62T>A	p.I21N	Missense	3/10	-	1
2-209116216-TC-AT	c.59_60delinsAT	p.R20H	Missense	3/10	-	1
2-209116217-CG-TT	c.58_59delinsAA	p.R20K	Missense	3/10	-	1
2-209116217-C-T	c.59G>A	p.R20Q	Missense	3/10	-	8
2-209116218-G-A	c.58C>T	p.R20*	Nonsense	3/10	-	3
2-209116219-T-G	c.57A>C	p.T19=	Synonymous	3/10	-	1
2-209116220-G-A	c.56C>T	p.T19I	Missense	3/10	-	1
2-209116221-T-C	c.55A>G	p.T19A	Missense	3/10	-	2
2-209116221-T-G	c.55A>C	p.T19P	Missense	3/10	-	1
2-209116223-A-C	c.53T>G	p.M18R	Missense	3/10	-	1
2-209116224-T-C	c.52A>G	p.M18V	Missense	3/10	-	1
2-209116225-T-C	c.51A>G	p.E17=	Synonymous	3/10	-	1
2-209116227-C-A	c.49G>T	p.E17*	Nonsense	3/10	-	1
2-209116227-C-T	c.49G>A	p.E17K	Missense	3/10	-	14
2-209116229-T-G	c.47A>C	p.D16A	Missense	3/10	-	1
2-209116230-C-G	c.46G>C	p.D16H	Missense	3/10	-	2
2-209116231-TC-GT	c.44_45delinsAC	p.G15D	Missense	3/10	-	3
2-209116233-C-G	c.43G>C	p.G15R	Missense	3/10	-	1
2-209116233-C-T	c.43G>A	p.G15R	Missense	3/10	-	2
2-209116234-TTG-GTC	c.40_42delinsGAC	p.Q14D	Missense	3/10	-	3
2-209116235-T-G	c.41A>C	p.Q14P	Missense	3/10	-	1
2-209116236-G-T	c.40C>A	p.Q14K	Missense	3/10	-	1
2-209116237-CAT-AAA	c.37_39delinsTTT	p.M13F	Missense	3/10	-	9
2-209116237-CAT-ACA	c.37_39delinsTGT	p.M13C	Missense	3/10	-	1
2-209116238-A-C	c.38T>G	p.M13R	Missense	3/10	-	9
2-209116239-T-C	c.37A>G	p.M13V	Missense	3/10	-	2
2-209116240-C-G	c.36G>C	p.E12D	Missense	3/10	-	2
2-209116241-T-G	c.35A>C	p.E12A	Missense	3/10	-	1
2-209116242-C-A	c.34G>T	p.E12*	Nonsense	3/10	-	1
2-209116242-C-G	c.34G>C	p.E12Q	Missense	3/10	-	1
2-209116242-C-T	c.34G>A	p.E12K	Missense	3/10	-	6
2-209116243-TAC-CAT	c.31_33delinsATG	p.V11M	Missense	3/10	-	2
2-209116244-AC-TT	c.31_32delinsAA	p.V11K	Missense	3/10	-	1
2-209116244-A-G	c.32T>C	p.V11A	Missense	3/10	-	1
2-209116246-CAC-GAT	c.28_30delinsATC	p.V10I	Missense	3/10	-	1
2-209116247-AC-GA	c.28_29delinsTC	p.V10S	Missense	3/10	-	1
2-209116250-G-T	c.26C>A	p.S9Y	Missense	3/10	-	1
2-209116253-C-A	c.23G>T	p.G8V	Missense	3/10	-	1
2-209116253-C-T	c.23G>A	p.G8D	Missense	3/10	-	1
2-209116254-C-A	c.22G>T	p.G8C	Missense	3/10	-	1
2-209116254-C-T	c.22G>A	p.G8S	Missense	3/10	-	3
2-209116255-G-A	c.21C>T	p.G7=	Synonymous	3/10	-	3
2-209116257-C-T	c.19G>A	p.G7S	Missense	3/10	-	2
2-209116258-A-C	c.18T>G	p.S6R	Missense	3/10	-	1
2-209116258-A-G	c.18T>C	p.S6=	Synonymous	3/10	-	1
2-209116258-A-T	c.18T>A	p.S6R	Missense	3/10	-	1
2-209116260-T-G	c.16A>C	p.S6R	Missense	3/10	-	1
2-209116260-T-A	c.16A>T	p.S6C	Missense	3/10	-	2
2-209116260-T-C	c.16A>G	p.S6G	Missense	3/10	-	3
2-209116261-G-A	c.15C>T	p.I5=	Synonymous	3/10	-	1
2-209116261-G-GT	c.14_15insA	p.S6Qfs*12	Frameshift	3/10	-	1
2-209116261-G-T	c.15C>A	p.I5=	Synonymous	3/10	-	1
2-209116263-T-C	c.13A>G	p.I5V	Missense	3/10	-	4
2-209116265-T-G	c.11A>C	p.K4T	Missense	3/10	-	1
2-209116262-A-AT	c.13dup	p.I5Nfs*13	Frameshift	3/10	-	2
2-209116262-AT-A	c.13del	p.I5Sfs*7	Frameshift	3/10	-	3
2-209116269-T-C	c.7A>G	p.K3E	Missense	3/10	-	1
2-209116269-T-TA	c.6_7insT	p.K3*	Nonsense	3/10	-	1
2-209116270-G-T	c.6C>A	p.S2=	Synonymous	3/10	-	1
2-209116271-G-A	c.5C>T	p.S2F	Missense	3/10	-	1
2-209116271-G-T	c.5C>A	p.S2Y	Missense	3/10	-	3
2-209116272-A-G	c.4T>C	p.S2P	Missense	3/10	-	2
2-209116273-C-A	c.3G>T	p.M1?	Missense	3/10	-	1
2-209116274-A-G	c.2T>C	p.M1?	Missense	3/10	-	1
2-209116274-A-AT	c.1dup	-	5-UTRInsertion	3/10	-	1
2-209116293-T-A	c.-16-2A>T	-	IntronicSNV	-	2/9	1
2-209116753-G-A	c.-16-462C>T	-	IntronicSNV	-	2/9	1
2-209117297-C-T	c.-16-1006G>A	-	IntronicSNV	-	2/9	1
2-209117317-A-G	c.-16-1026T>C	-	IntronicSNV	-	2/9	3
2-209117317-A-T	c.-16-1026T>A	-	IntronicSNV	-	2/9	3
2-209119117-C-G	c.-90-434G>C	-	intron_variant	-	1/9	1
2-209119717-C-T	c.-145G>A	-	5_prime_UTR_variant	1/10	-	1