ABCB11

ABCB11 ATP binding cassette subfamily B member 11

Annotation transcript: NM_003742.4

2044 unique variant annotations were identified in 1056 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
2-169777297-A-G	c.*2835T>C	-	IntergenicSNV	28/28	-	1
2-169777595-C-T	c.*2537G>A	-	IntergenicSNV	28/28	-	3
2-169779156-G-A	c.*976C>T	-	IntergenicSNV	28/28	-	5
2-169779712-T-C	c.*420A>G	-	3-UTRSNV	28/28	-	15
2-169779764-C-A	c.*368G>T	-	3-UTRSNV	28/28	-	14
2-169779764-C-G	c.*368G>C	-	3-UTRSNV	28/28	-	14
2-169779764-C-T	c.*368G>A	-	3-UTRSNV	28/28	-	14
2-169779851-A-C	c.*281T>G	-	3-UTRSNV	28/28	-	4
2-169779896-T-A	c.*236A>T	-	3-UTRSNV	28/28	-	17
2-169779896-T-C	c.*236A>G	-	3-UTRSNV	28/28	-	17
2-169779896-T-G	c.*236A>C	-	3-UTRSNV	28/28	-	17
2-169780136-C-T	c.3962G>A	p.S1321N	Missense	28/28	-	1
2-169780143-G-C	c.3955C>G	p.P1319A	Missense	28/28	-	1
2-169780144-G-A	c.3954C>T	p.S1318=	Synonymous	28/28	-	4
2-169780147-T-A	c.3951A>T	p.G1317=	Synonymous	28/28	-	2
2-169780147-T-C	c.3951A>G	p.G1317=	Synonymous	28/28	-	1
2-169780147-T-G	c.3951A>C	p.G1317=	Synonymous	28/28	-	1
2-169780148-C-G	c.3950G>C	p.G1317A	Missense	28/28	-	3
2-169780148-C-T	c.3950G>A	p.G1317E	Missense	28/28	-	2
2-169780152-TG-T	c.3945del	p.T1316Lfs*64	Frameshift	28/28	-	3
2-169780154-G-A	c.3944C>T	p.T1315I	Missense	28/28	-	1
2-169780160-A-G	c.3938T>C	p.L1313P	Missense	28/28	-	1
2-169780165-G-C	c.3933C>G	p.Y1311*	Nonsense	28/28	-	1
2-169780166-TA-GC	c.3931_3932delinsGC	p.Y1311A	Missense	28/28	-	1
2-169780166-T-C	c.3932A>G	p.Y1311C	Missense	28/28	-	1
2-169780169-TA-GC	c.3928_3929delinsGC	p.Y1310A	Missense	28/28	-	1
2-169780176-C-A	c.3922G>T	p.G1308*	Nonsense	28/28	-	1
2-169780179-T-G	c.3919A>C	p.K1307Q	Missense	28/28	-	1
2-169780176-CT-C	c.3921del	p.G1308Efs*6	Frameshift	28/28	-	1
2-169780182-G-A	c.3916C>T	p.Q1306*	Nonsense	28/28	-	1
2-169780184-G-A	c.3914C>T	p.A1305V	Missense	28/28	-	2
2-169780186-C-T	c.3912G>A	p.M1304I	Missense	28/28	-	2
2-169780187-AT-GC	c.3910_3911delinsGC	p.M1304A	Missense	28/28	-	1
2-169780189-C-A	c.3909G>T	p.L1303=	Synonymous	28/28	-	2
2-169780189-C-G	c.3909G>C	p.L1303=	Synonymous	28/28	-	2
2-169780189-C-T	c.3909G>A	p.L1303=	Synonymous	28/28	-	3
2-169780191-G-A	c.3907C>T	p.L1303=	Synonymous	28/28	-	2
2-169780190-A-C	c.3908T>G	p.L1303R	Missense	28/28	-	1
2-169780190-AG-GC	c.3907_3908delinsGC	p.L1303A	Missense	28/28	-	1
2-169780192-T-C	c.3906A>G	p.E1302=	Synonymous	28/28	-	1
2-169780194-C-A	c.3904G>T	p.E1302*	Nonsense	28/28	-	8
2-169780194-C-T	c.3904G>A	p.E1302K	Missense	28/28	-	1
2-169780196-T-G	c.3902A>C	p.E1301A	Missense	28/28	-	1
2-169780202-G-A	c.3896C>T	p.T1299I	Missense	28/28	-	1
2-169780202-G-T	c.3896C>A	p.T1299N	Missense	28/28	-	2
2-169780204-C-A	c.3894G>T	p.G1298=	Synonymous	28/28	-	2
2-169780204-CC-GT	c.3893_3894delinsAC	p.G1298D	Missense	28/28	-	1
2-169780204-C-G	c.3894G>C	p.G1298=	Synonymous	28/28	-	1
2-169780205-C-T	c.3893G>A	p.G1298E	Missense	28/28	-	2
2-169780207-C-T	c.3891G>A	p.K1297=	Synonymous	28/28	-	4
2-169780212-C-G	c.3886G>C	p.E1296Q	Missense	28/28	-	1
2-169780212-C-T	c.3886G>A	p.E1296K	Missense	28/28	-	5
2-169780215-TCA-T	c.3881_3882del	p.V1294Dfs*2	Frameshift	28/28	-	1
2-169780220-A-C	c.3878T>G	p.V1293G	Missense	28/28	-	1
2-169780223-C-A	c.3875G>T	p.G1292V	Missense	28/28	-	1
2-169780223-C-T	c.3875G>A	p.G1292E	Missense	28/28	-	2
2-169780224-C-T	c.3874G>A	p.G1292R	Missense	28/28	-	6
2-169780220-AC-A	c.3877del	p.V1293Wfs*2	Frameshift	28/28	-	4
2-169780225-C-A	c.3873G>T	p.Q1291H	Missense	28/28	-	1
2-169780225-C-G	c.3873G>C	p.Q1291H	Missense	28/28	-	1
2-169780225-C-T	c.3873G>A	p.Q1291=	Synonymous	28/28	-	2
2-169780238-G-T	c.3860C>A	p.A1287D	Missense	28/28	-	3
2-169780242-T-C	c.3856A>G	p.I1286V	Missense	28/28	-	1
2-169780243-G-A	c.3855C>T	p.I1285=	Synonymous	28/28	-	2
2-169780243-G-C	c.3855C>G	p.I1285M	Missense	28/28	-	2
2-169780245-T-G	c.3853A>C	p.I1285L	Missense	28/28	-	2
2-169780248-C-A	c.3850G>T	p.D1284Y	Missense	28/28	-	1
2-169780248-C-T	c.3850G>A	p.D1284N	Missense	28/28	-	2
2-169780249-C-A	c.3849G>T	p.A1283=	Synonymous	28/28	-	1
2-169780249-C-G	c.3849G>C	p.A1283=	Synonymous	28/28	-	1
2-169780249-C-T	c.3849G>A	p.A1283=	Synonymous	28/28	-	3
2-169780250-G-A	c.3848C>T	p.A1283V	Missense	28/28	-	8
2-169780251-C-T	c.3847G>A	p.A1283T	Missense	28/28	-	2
2-169780252-G-A	c.3846C>T	p.N1282=	Synonymous	28/28	-	3
2-169780252-G-C	c.3846C>G	p.N1282K	Missense	28/28	-	1
2-169780252-G-T	c.3846C>A	p.N1282K	Missense	28/28	-	1
2-169780256-T-A	c.3842A>T	p.Q1281L	Missense	28/28	-	1
2-169780256-T-C	c.3842A>G	p.Q1281R	Missense	28/28	-	2
2-169780258-G-A	c.3840C>T	p.I1280=	Synonymous	28/28	-	6
2-169780258-G-T	c.3840C>A	p.I1280=	Synonymous	28/28	-	2
2-169780261-G-A	c.3837C>T	p.T1279=	Synonymous	28/28	-	3
2-169780261-G-C	c.3837C>G	p.T1279=	Synonymous	28/28	-	1
2-169780261-G-T	c.3837C>A	p.T1279=	Synonymous	28/28	-	1
2-169780262-G-A	c.3836C>T	p.T1279I	Missense	28/28	-	1
2-169780262-G-C	c.3836C>G	p.T1279S	Missense	28/28	-	1
2-169780269-A-C	c.3829T>G	p.L1277V	Missense	28/28	-	1
2-169780269-A-T	c.3829T>A	p.L1277M	Missense	28/28	-	1
2-169780271-C-T	c.3827G>A	p.R1276H	Missense	28/28	-	2
2-169780272-G-A	c.3826C>T	p.R1276C	Missense	28/28	-	3
2-169780275-G-A	c.3823C>T	p.H1275Y	Missense	28/28	-	1
2-169780277-G-T	c.3821C>A	p.A1274D	Missense	28/28	-	1
2-169780278-C-A	c.3820G>T	p.A1274S	Missense	28/28	-	1
2-169780282-G-A	c.3816C>T	p.V1272=	Synonymous	28/28	-	1
2-169780287-T-A	c.3811A>T	p.I1271F	Missense	28/28	-	2
2-169780289-C-G	c.3809G>C	p.C1270S	Missense	28/28	-	2
2-169780291-G-A	c.3807C>T	p.T1269=	Synonymous	28/28	-	2
2-169780291-G-T	c.3807C>A	p.T1269=	Synonymous	28/28	-	1
2-169780292-G-A	c.3806C>T	p.T1269I	Missense	28/28	-	5
2-169780292-G-T	c.3806C>A	p.T1269N	Missense	28/28	-	2
2-169780293-TC-T	c.3804del	p.T1269Pfs*26	Frameshift	28/28	-	1
2-169780295-C-T	c.3803G>A	p.R1268Q	Missense	28/28	-	13
2-169780296-G-A	c.3802C>T	p.R1268W	Missense	28/28	-	8
2-169780296-G-T	c.3802C>A	p.R1268=	Synonymous	28/28	-	1
2-169780297-A-C	c.3801T>G	p.G1267=	Synonymous	28/28	-	2
2-169780297-A-G	c.3801T>C	p.G1267=	Synonymous	28/28	-	2
2-169780297-A-T	c.3801T>A	p.G1267=	Synonymous	28/28	-	2
2-169780298-C-T	c.3800G>A	p.G1267D	Missense	28/28	-	6
2-169780299-C-T	c.3799G>A	p.G1267S	Missense	28/28	-	5
2-169780300-C-T	c.3798G>A	p.E1266=	Synonymous	28/28	-	3
2-169780311-T-C	c.3787A>G	p.K1263E	Missense	28/28	-	1
2-169780314-C-A	c.3784G>T	p.D1262Y	Missense	28/28	-	2
2-169780320-C-G	c.3778G>C	p.A1260P	Missense	28/28	-	2
2-169780322-A-G	c.3776T>C	p.V1259A	Missense	28/28	-	1
2-169780324-C-A	c.3774G>T	p.Q1258H	Missense	28/28	-	1
2-169780324-C-G	c.3774G>C	p.Q1258H	Missense	28/28	-	1
2-169780330-C-CG	c.3767dup	p.V1257Gfs*40	SpliceAcceptorInsertion	28/28	-	1
2-169780331-G-A	c.3767C>T	p.T1256M	Missense	28/28	-	1
2-169780366-T-A	c.3766-34A>T	-	IntronicSNV	-	27/27	6
2-169780366-T-C	c.3766-34A>G	-	IntronicSNV	-	27/27	6
2-169780818-A-G	c.3765+349T>C	-	IntronicSNV	-	27/27	3
2-169780818-A-T	c.3765+349T>A	-	IntronicSNV	-	27/27	3
2-169780885-T-C	c.3765+282A>G	-	IntronicSNV	-	27/27	3
2-169780961-T-C	c.3765+206A>G	-	IntronicSNV	-	27/27	2
2-169781167-C-A	c.3765G>T	p.K1255N	Missense	27/28	-	1
2-169781172-C-T	c.3760G>A	p.E1254K	Missense	27/28	-	1
2-169781177-T-C	c.3755A>G	p.E1252G	Missense	27/28	-	2
2-169781178-C-A	c.3754G>T	p.E1252*	Nonsense	27/28	-	1
2-169781180-G-A	c.3752C>T	p.T1251I	Missense	27/28	-	1
2-169781182-TG-T	c.3750del	p.D1250Efs*12	Frameshift	27/28	-	1
2-169781183-T-G	c.3749A>C	p.D1250A	Missense	27/28	-	1
2-169781186-A-C	c.3746T>G	p.L1249*	Nonsense	27/28	-	1
2-169781188-G-T	c.3744C>A	p.A1248=	Synonymous	27/28	-	1
2-169781190-C-T	c.3742G>A	p.A1248T	Missense	27/28	-	1
2-169781192-G-A	c.3740C>T	p.S1247F	Missense	27/28	-	1
2-169781193-A-G	c.3739T>C	p.S1247P	Missense	27/28	-	1
2-169781195-GT-CA	c.3736_3737delinsTG	p.T1246C	Missense	27/28	-	1
2-169781202-C-A	c.3730G>T	p.E1244*	Nonsense	27/28	-	1
2-169781202-C-G	c.3730G>C	p.E1244Q	Missense	27/28	-	1
2-169781204-T-A	c.3728A>T	p.D1243V	Missense	27/28	-	1
2-169781204-T-C	c.3728A>G	p.D1243G	Missense	27/28	-	1
2-169781208-G-A	c.3724C>T	p.L1242=	Synonymous	27/28	-	1
2-169781208-G-T	c.3724C>A	p.L1242I	Missense	27/28	-	1
2-169781216-A-G	c.3716T>C	p.I1239T	Missense	27/28	-	4
2-169781219-T-G	c.3713A>C	p.K1238T	Missense	27/28	-	1
2-169781226-C-T	c.3706G>A	p.D1236N	Missense	27/28	-	2
2-169781228-C-T	c.3704G>A	p.R1235Q	Missense	27/28	-	6
2-169781229-G-A	c.3703C>T	p.R1235*	Nonsense	27/28	-	4
2-169781236-G-A	c.3696C>T	p.A1232=	Synonymous	27/28	-	1
2-169781236-G-C	c.3696C>G	p.A1232=	Synonymous	27/28	-	1
2-169781236-G-T	c.3696C>A	p.A1232=	Synonymous	27/28	-	1
2-169781237-G-A	c.3695C>T	p.A1232V	Missense	27/28	-	1
2-169781238-C-T	c.3694G>A	p.A1232T	Missense	27/28	-	2
2-169781239-CCG-ACA	c.3691_3693delinsTGT	p.R1231C	Missense	27/28	-	1
2-169781240-C-A	c.3692G>T	p.R1231L	Missense	27/28	-	4
2-169781240-C-T	c.3692G>A	p.R1231Q	Missense	27/28	-	9
2-169781241-G-A	c.3691C>T	p.R1231W	Missense	27/28	-	12
2-169781244-C-G	c.3688G>C	p.A1230P	Missense	27/28	-	2
2-169781255-C-A	c.3677G>T	p.R1226L	Missense	27/28	-	2
2-169781255-C-G	c.3677G>C	p.R1226P	Missense	27/28	-	1
2-169781255-C-T	c.3677G>A	p.R1226H	Missense	27/28	-	3
2-169781256-G-A	c.3676C>T	p.R1226C	Missense	27/28	-	5
2-169781263-C-A	c.3669G>T	p.E1223D	Missense	27/28	-	1
2-169781263-C-G	c.3669G>C	p.E1223D	Missense	27/28	-	3
2-169781265-C-G	c.3667G>C	p.E1223Q	Missense	27/28	-	1
2-169781269-T-G	c.3663A>C	p.R1221S	Missense	27/28	-	1
2-169781270-C-T	c.3662G>A	p.R1221K	Missense	27/28	-	2
2-169781271-T-C	c.3661A>G	p.R1221G	Missense	27/28	-	1
2-169781277-G-A	c.3655C>T	p.L1219F	Missense	27/28	-	1
2-169781285-C-T	c.3647G>A	p.G1216E	Missense	27/28	-	7
2-169781286-C-A	c.3646G>T	p.G1216W	Missense	27/28	-	1
2-169781287-C-T	c.3645G>A	p.Q1215=	Synonymous	27/28	-	4
2-169781288-T-A	c.3644A>T	p.Q1215L	Missense	27/28	-	1
2-169781295-C-T	c.3637G>A	p.G1213R	Missense	27/28	-	1
2-169781298-C-A	c.3634G>T	p.V1212F	Missense	27/28	-	1
2-169781298-C-T	c.3634G>A	p.V1212I	Missense	27/28	-	1
2-169781299-G-A	c.3633C>T	p.N1211=	Synonymous	27/28	-	1
2-169781299-G-C	c.3633C>G	p.N1211K	Missense	27/28	-	3
2-169781299-G-T	c.3633C>A	p.N1211K	Missense	27/28	-	2
2-169781303-GT-AA	c.3628_3629delinsTT	p.T1210F	Missense	27/28	-	1
2-169781304-T-G	c.3628A>C	p.T1210P	Missense	27/28	-	4
2-169781307-C-T	c.3625G>A	p.E1209K	Missense	27/28	-	1
2-169781309-T-C	c.3623A>G	p.Y1208C	Missense	27/28	-	2
2-169781530-A-T	c.3619-217T>A	-	IntronicSNV	-	26/27	2
2-169782149-A-G	c.3619-836T>C	-	IntronicSNV	-	26/27	1
2-169782481-A-T	c.3619-1168T>A	-	IntronicSNV	-	26/27	5
2-169782574-T-C	c.3618+1092A>G	-	IntronicSNV	-	26/27	2
2-169782869-T-C	c.3618+797A>G	-	IntronicSNV	-	26/27	2
2-169782880-A-T	c.3618+786T>A	-	IntronicSNV	-	26/27	7
2-169783039-G-C	c.3618+627C>G	-	IntronicSNV	-	26/27	3
2-169783039-G-T	c.3618+627C>A	-	IntronicSNV	-	26/27	4
2-169783209-A-G	c.3618+457T>C	-	IntronicSNV	-	26/27	1
2-169783565-T-G	c.3618+101A>C	-	IntronicSNV	-	26/27	1
2-169783671-G-A	c.3613C>T	p.P1205S	Missense	26/28	-	7
2-169783672-G-A	c.3612C>T	p.L1204=	Synonymous	26/28	-	2
2-169783672-G-C	c.3612C>G	p.L1204=	Synonymous	26/28	-	1
2-169783672-G-T	c.3612C>A	p.L1204=	Synonymous	26/28	-	1
2-169783678-C-G	c.3606G>C	p.M1202I	Missense	26/28	-	2
2-169783679-A-G	c.3605T>C	p.M1202T	Missense	26/28	-	1
2-169783691-T-C	c.3593A>G	p.H1198R	Missense	26/28	-	3
2-169783698-G-A	c.3586C>T	p.Q1196*	Nonsense	26/28	-	1
2-169783698-G-T	c.3586C>A	p.Q1196K	Missense	26/28	-	1
2-169783702-C-A	c.3582G>T	p.Q1194H	Missense	26/28	-	1
2-169783702-C-G	c.3582G>C	p.Q1194H	Missense	26/28	-	1
2-169783704-G-A	c.3580C>T	p.Q1194*	Nonsense	26/28	-	1
2-169783709-G-A	c.3575C>T	p.A1192V	Missense	26/28	-	1
2-169783711-A-C	c.3573T>G	p.A1191=	Synonymous	26/28	-	1
2-169783711-A-G	c.3573T>C	p.A1191=	Synonymous	26/28	-	1
2-169783711-A-T	c.3573T>A	p.A1191=	Synonymous	26/28	-	2
2-169783716-C-T	c.3568G>A	p.A1190T	Missense	26/28	-	1
2-169783724-C-T	c.3560G>A	p.R1187K	Missense	26/28	-	3
2-169783728-C-T	c.3556G>A	p.E1186K	Missense	26/28	-	13
2-169783730-A-T	c.3554T>A	p.M1185K	Missense	26/28	-	2
2-169783733-G-T	c.3551C>A	p.P1184H	Missense	26/28	-	1
2-169783734-G-A	c.3550C>T	p.P1184S	Missense	26/28	-	6
2-169783735-A-G	c.3549T>C	p.I1183=	Synonymous	26/28	-	2
2-169783735-A-T	c.3549T>A	p.I1183=	Synonymous	26/28	-	1
2-169783736-A-G	c.3548T>C	p.I1183T	Missense	26/28	-	1
2-169783740-C-T	c.3544G>A	p.E1182K	Missense	26/28	-	2
2-169783743-T-A	c.3541A>T	p.K1181*	Nonsense	26/28	-	6
2-169783743-T-C	c.3541A>G	p.K1181E	Missense	26/28	-	1
2-169783744-G-A	c.3540C>T	p.T1180=	Synonymous	26/28	-	1
2-169783744-G-C	c.3540C>G	p.T1180=	Synonymous	26/28	-	1
2-169783744-G-T	c.3540C>A	p.T1180=	Synonymous	26/28	-	1
2-169783755-C-G	c.3529G>C	p.G1177R	Missense	26/28	-	1
2-169783755-C-T	c.3529G>A	p.G1177R	Missense	26/28	-	6
2-169783756-A-G	c.3528T>C	p.Y1176=	Synonymous	26/28	-	3
2-169783757-T-C	c.3527A>G	p.Y1176C	Missense	26/28	-	1
2-169783758-A-G	c.3526T>C	p.Y1176H	Missense	26/28	-	1
2-169783763-A-T	c.3521T>A	p.I1174N	Missense	26/28	-	1
2-169783766-T-C	c.3518A>G	p.N1173S	Missense	26/28	-	1
2-169783767-T-C	c.3517A>G	p.N1173D	Missense	26/28	-	2
2-169783775-A-G	c.3509T>C	p.I1170T	Missense	26/28	-	1
2-169783776-T-A	c.3508A>T	p.I1170L	Missense	26/28	-	1
2-169783776-T-G	c.3508A>C	p.I1170L	Missense	26/28	-	1
2-169783778-C-T	c.3506G>A	p.S1169N	Missense	26/28	-	1
2-169783781-C-T	c.3503G>A	p.C1168Y	Missense	26/28	-	1
2-169783785-C-A	c.3499G>T	p.A1167S	Missense	26/28	-	1
2-169783786-AAAC-A	c.3495_3497del	p.L1165del	InFrameDeletion	26/28	-	1
2-169783793-CA-C	c.3491del	p.V1164Gfs*7	Frameshift	26/28	-	2
2-169783800-C-A	c.3484G>T	p.E1162*	Nonsense	26/28	-	2
2-169783803-G-A	c.3481C>T	p.Q1161*	Nonsense	26/28	-	1
2-169783805-G-A	c.3479C>T	p.S1160F	Missense	26/28	-	2
2-169783811-A-G	c.3473T>C	p.I1158T	Missense	26/28	-	1
2-169783815-C-G	c.3469G>C	p.G1157R	Missense	26/28	-	1
2-169783815-C-T	c.3469G>A	p.G1157R	Missense	26/28	-	2
2-169783819-G-A	c.3465C>T	p.N1155=	Synonymous	26/28	-	1
2-169783820-T-C	c.3464A>G	p.N1155S	Missense	26/28	-	2
2-169783823-G-A	c.3461C>T	p.S1154L	Missense	26/28	-	1
2-169783824-AG-C	c.3459_3460delinsG	p.S1154Qfs*17	Frameshift	26/28	-	1
2-169783826-C-T	c.3458G>A	p.R1153H	Missense	26/28	-	7
2-169783827-G-A	c.3457C>T	p.R1153C	Missense	26/28	-	30
2-169783827-G-C	c.3457C>G	p.R1153G	Missense	26/28	-	4
2-169783827-G-T	c.3457C>A	p.R1153S	Missense	26/28	-	1
2-169783829-A-C	c.3455T>G	p.L1152R	Missense	26/28	-	1
2-169783830-G-A	c.3454C>T	p.L1152F	Missense	26/28	-	1
2-169783830-G-T	c.3454C>A	p.L1152I	Missense	26/28	-	1
2-169783831-G-A	c.3453C>T	p.F1151=	Synonymous	26/28	-	2
2-169783842-T-G	c.3442A>C	p.N1148H	Missense	26/28	-	1
2-169783842-T-TA	c.3441_3442insT	p.N1148*	Nonsense	26/28	-	1
2-169783845-C-G	c.3439G>C	p.V1147L	Missense	26/28	-	1
2-169783845-C-T	c.3439G>A	p.V1147I	Missense	26/28	-	1
2-169783846-T-A	c.3438A>T	p.K1146N	Missense	26/28	-	1
2-169783847-T-A	c.3437A>T	p.K1146I	Missense	26/28	-	2
2-169783849-T-C	c.3435A>G	p.K1145=	Synonymous	26/28	-	1
2-169783850-T-A	c.3434A>T	p.K1145I	Missense	26/28	-	1
2-169783845-C-CT	c.3438dup	p.V1147Sfs*23	Frameshift	26/28	-	1
2-169783851-T-G	c.3433A>C	p.K1145Q	Missense	26/28	-	1
2-169783855-G-C	c.3429C>G	p.D1143E	Missense	26/28	-	1
2-169783858-A-C	c.3426T>G	p.H1142Q	Missense	26/28	-	1
2-169783858-A-T	c.3426T>A	p.H1142Q	Missense	26/28	-	1
2-169783860-G-T	c.3424C>A	p.H1142N	Missense	26/28	-	1
2-169783863-C-A	c.3421G>T	p.G1141C	Missense	26/28	-	1
2-169784493-A-G	c.3412-621T>C	-	IntronicSNV	-	25/27	2
2-169784955-A-C	c.3412-1083T>G	-	IntronicSNV	-	25/27	1
2-169785449-A-C	c.3412-1577T>G	-	IntronicSNV	-	25/27	1
2-169787165-C-T	c.3411+10G>A	-	IntronicSNV	-	25/27	1
2-169787174-C-A	c.3411+1G>T	-	IntronicSNV	-	25/27	1
2-169787176-AC-TA	c.3409_3410delinsTA	p.V1137*	Nonsense	25/28	-	1
2-169787178-C-G	c.3408G>C	p.K1136N	Missense	25/28	-	2
2-169787181-C-T	c.3405G>A	p.G1135=	Synonymous	25/28	-	2
2-169787182-C-T	c.3404G>A	p.G1135E	Missense	25/28	-	5
2-169787183-C-G	c.3403G>C	p.G1135R	Missense	25/28	-	1
2-169787183-C-T	c.3403G>A	p.G1135R	Missense	25/28	-	2
2-169787186-G-A	c.3400C>T	p.Q1134*	Nonsense	25/28	-	1
2-169787191-G-A	c.3395C>T	p.P1132L	Missense	25/28	-	1
2-169787194-T-A	c.3392A>T	p.D1131V	Missense	25/28	-	2
2-169787194-T-C	c.3392A>G	p.D1131G	Missense	25/28	-	1
2-169787195-C-T	c.3391G>A	p.D1131N	Missense	25/28	-	5
2-169787197-T-C	c.3389A>G	p.Y1130C	Missense	25/28	-	2
2-169787203-C-T	c.3383G>A	p.R1128H	Missense	25/28	-	3
2-169787204-G-A	c.3382C>T	p.R1128C	Missense	25/28	-	6
2-169787204-G-C	c.3382C>G	p.R1128G	Missense	25/28	-	2
2-169787207-C-T	c.3379G>A	p.E1127K	Missense	25/28	-	3
2-169787221-C-T	c.3365G>A	p.S1122N	Missense	25/28	-	1
2-169787224-G-A	c.3362C>T	p.T1121I	Missense	25/28	-	1
2-169787226-G-C	c.3360C>G	p.S1120R	Missense	25/28	-	1
2-169787227-C-A	c.3359G>T	p.S1120I	Missense	25/28	-	1
2-169787227-C-T	c.3359G>A	p.S1120N	Missense	25/28	-	2
2-169787229-TT-CA	c.3356_3357delinsTG	p.K1119M	Missense	25/28	-	1
2-169787234-C-T	c.3352G>A	p.G1118S	Missense	25/28	-	2
2-169787236-C-T	c.3350G>A	p.C1117Y	Missense	25/28	-	1
2-169787238-T-C	c.3348A>G	p.G1116=	Synonymous	25/28	-	1
2-169787239-C-G	c.3347G>C	p.G1116A	Missense	25/28	-	1
2-169787239-C-T	c.3347G>A	p.G1116E	Missense	25/28	-	5
2-169787240-C-G	c.3346G>C	p.G1116R	Missense	25/28	-	1
2-169787241-A-G	c.3345T>C	p.S1115=	Synonymous	25/28	-	1
2-169787243-T-G	c.3343A>C	p.S1115R	Missense	25/28	-	1
2-169787245-C-G	c.3341G>C	p.S1114T	Missense	25/28	-	1
2-169787251-A-C	c.3335T>G	p.V1112G	Missense	25/28	-	1
2-169787251-A-G	c.3335T>C	p.V1112A	Missense	25/28	-	3
2-169787252-C-A	c.3334G>T	p.V1112F	Missense	25/28	-	2
2-169787252-C-T	c.3334G>A	p.V1112I	Missense	25/28	-	1
2-169787254-A-G	c.3332T>C	p.F1111S	Missense	25/28	-	1
2-169787256-C-A	c.3330G>T	p.A1110=	Synonymous	25/28	-	1
2-169787256-C-T	c.3330G>A	p.A1110=	Synonymous	25/28	-	1
2-169787257-G-A	c.3329C>T	p.A1110V	Missense	25/28	-	6
2-169787257-G-T	c.3329C>A	p.A1110E	Missense	25/28	-	2
2-169787261-G-C	c.3325C>G	p.L1109V	Missense	25/28	-	1
2-169787265-C-G	c.3321G>C	p.Q1107H	Missense	25/28	-	1
2-169787269-C-G	c.3317G>C	p.G1106A	Missense	25/28	-	1
2-169787269-C-T	c.3317G>A	p.G1106E	Missense	25/28	-	1
2-169787275-C-G	c.3311G>C	p.S1104T	Missense	25/28	-	1
2-169787279-AT-A	c.3307del	p.I1103Lfs*35	Frameshift	25/28	-	1
2-169787279-T-A	c.3307A>T	p.I1103F	Missense	25/28	-	1
2-169787280-C-T	c.3306G>A	p.S1102=	Synonymous	25/28	-	1
2-169787281-G-A	c.3305C>T	p.S1102L	Missense	25/28	-	2
2-169787281-G-C	c.3305C>G	p.S1102W	Missense	25/28	-	1
2-169787287-G-A	c.3299C>T	p.S1100L	Missense	25/28	-	1
2-169787288-A-T	c.3298T>A	p.S1100T	Missense	25/28	-	1
2-169787289-AG-A	c.3297del	p.S1100Qfs*38	Frameshift	25/28	-	1
2-169787293-C-G	c.3293G>C	p.G1098A	Missense	25/28	-	1
2-169787294-C-T	c.3292G>A	p.G1098S	Missense	25/28	-	4
2-169787297-T-A	c.3289A>T	p.N1097Y	Missense	25/28	-	1
2-169787301-A-C	c.3285T>G	p.V1095=	Synonymous	25/28	-	1
2-169787301-A-G	c.3285T>C	p.V1095=	Synonymous	25/28	-	1
2-169787301-A-T	c.3285T>A	p.V1095=	Synonymous	25/28	-	1
2-169787302-A-G	c.3284T>C	p.V1095A	Missense	25/28	-	1
2-169787303-C-G	c.3283G>C	p.V1095L	Missense	25/28	-	1
2-169787306-G-T	c.3280C>A	p.Q1094K	Missense	25/28	-	1
2-169787307-C-A	c.3279G>T	p.S1093=	Synonymous	25/28	-	1
2-169787307-C-G	c.3279G>C	p.S1093=	Synonymous	25/28	-	1
2-169787307-C-T	c.3279G>A	p.S1093=	Synonymous	25/28	-	2
2-169787308-G-A	c.3278C>T	p.S1093L	Missense	25/28	-	5
2-169787314-G-A	c.3272C>T	p.P1091L	Missense	25/28	-	1
2-169787317-C-T	c.3269G>A	p.R1090Q	Missense	25/28	-	1
2-169787318-G-A	c.3268C>T	p.R1090*	Nonsense	25/28	-	18
2-169787320-G-T	c.3266C>A	p.S1089Y	Missense	25/28	-	1
2-169787321-A-G	c.3265T>C	p.S1089P	Missense	25/28	-	1
2-169787324-G-A	c.3262C>T	p.P1088S	Missense	25/28	-	2
2-169787328-T-C	c.3258A>G	p.T1086=	Synonymous	25/28	-	5
2-169787332-A-G	c.3254T>C	p.F1085S	Missense	25/28	-	1
2-169787335-T-G	c.3251A>C	p.K1084T	Missense	25/28	-	1
2-169787345-C-A	c.3241G>T	p.V1081F	Missense	25/28	-	1
2-169787351-C-G	c.3235G>C	p.D1079H	Missense	25/28	-	3
2-169787351-C-T	c.3235G>A	p.D1079N	Missense	25/28	-	2
2-169787352-A-G	c.3234T>C	p.I1078=	Synonymous	25/28	-	2
2-169787352-A-T	c.3234T>A	p.I1078=	Synonymous	25/28	-	1
2-169787353-A-G	c.3233T>C	p.I1078T	Missense	25/28	-	2
2-169787358-C-A	c.3228G>T	p.G1076=	Synonymous	25/28	-	1
2-169787358-C-G	c.3228G>C	p.G1076=	Synonymous	25/28	-	1
2-169787358-C-T	c.3228G>A	p.G1076=	Synonymous	25/28	-	1
2-169787366-A-C	c.3220T>G	p.F1074V	Missense	25/28	-	1
2-169787372-C-T	c.3214G>A	p.D1072N	Missense	25/28	-	2
2-169787686-C-T	c.3214-314G>A	-	IntronicSNV	-	24/27	1
2-169788882-C-T	c.3213+5G>A	-	IntronicSNV	-	24/27	1
2-169788883-T-C	c.3213+4A>G	-	IntronicSNV	-	24/27	1
2-169788886-C-A	c.3213+1G>T	-	IntronicSNV	-	24/27	1
2-169788885-AC-A	c.3213+1del	-	IntronicDeletion	24/28	-	2
2-169788887-C-T	c.3213G>A	p.W1071*	Nonsense	24/28	-	1
2-169788888-C-T	c.3212G>A	p.W1071*	Nonsense	24/28	-	1
2-169788891-T-C	c.3209A>G	p.K1070R	Missense	24/28	-	1
2-169788893-T-G	c.3207A>C	p.E1069D	Missense	24/28	-	1
2-169788889-AT-A	c.3210del	p.K1070Nfs*27	Frameshift	24/28	-	1
2-169788900-G-C	c.3200C>G	p.A1067G	Missense	24/28	-	1
2-169788903-G-A	c.3197C>T	p.T1066I	Missense	24/28	-	1
2-169788909-T-A	c.3191A>T	p.Y1064F	Missense	24/28	-	1
2-169788912-A-G	c.3188T>C	p.V1063A	Missense	24/28	-	1
2-169788915-CTGAT-C	c.3181_3184del	p.I1061Vfs*35	Frameshift	24/28	-	1
2-169788922-G-A	c.3178C>T	p.P1060S	Missense	24/28	-	1
2-169788924-G-A	c.3176C>T	p.P1059L	Missense	24/28	-	1
2-169788925-GT-G	c.3174del	p.Q1058Hfs*39	Frameshift	24/28	-	1
2-169788928-G-A	c.3172C>T	p.Q1058*	Nonsense	24/28	-	1
2-169788930-C-T	c.3170G>A	p.R1057Q	Missense	24/28	-	7
2-169788931-G-A	c.3169C>T	p.R1057*	Nonsense	24/28	-	20
2-169788932-G-T	c.3168C>A	p.D1056E	Missense	24/28	-	1
2-169788936-A-G	c.3164T>C	p.L1055P	Missense	24/28	-	1
2-169788937-G-A	c.3163C>T	p.L1055=	Synonymous	24/28	-	1
2-169788943-G-A	c.3157C>T	p.Q1053*	Nonsense	24/28	-	4
2-169788943-TG-T	c.3157del	p.Q1053Nfs*44	Frameshift	24/28	-	2
2-169788945-A-G	c.3155T>C	p.F1052S	Missense	24/28	-	3
2-169788943-GA-G	c.3156del	p.Q1053Nfs*44	Frameshift	24/28	-	1
2-169788943-G-GA	c.3156dup	p.Q1053Sfs*17	Frameshift	24/28	-	1
2-169788950-GCG-TCA	c.3148_3150delinsTGA	p.R1050*	Nonsense	24/28	-	1
2-169788951-C-T	c.3149G>A	p.R1050H	Missense	24/28	-	6
2-169788952-G-A	c.3148C>T	p.R1050C	Missense	24/28	-	14
2-169788952-G-T	c.3148C>A	p.R1050S	Missense	24/28	-	2
2-169788960-G-C	c.3140C>G	p.S1047*	Nonsense	24/28	-	1
2-169788961-A-C	c.3139T>G	p.S1047A	Missense	24/28	-	1
2-169788966-T-C	c.3134A>G	p.K1045R	Missense	24/28	-	1
2-169788967-T-C	c.3133A>G	p.K1045E	Missense	24/28	-	1
2-169788968-AGC-TTA	c.3130_3132delinsTAA	p.A1044*	Nonsense	24/28	-	1
2-169788969-G-A	c.3131C>T	p.A1044V	Missense	24/28	-	1
2-169788970-GC-G	c.3130del	p.A1044Lfs*53	Frameshift	24/28	-	1
2-169788974-T-A	c.3126A>T	p.A1042=	Synonymous	24/28	-	1
2-169788974-T-C	c.3126A>G	p.A1042=	Synonymous	24/28	-	1
2-169788974-T-G	c.3126A>C	p.A1042=	Synonymous	24/28	-	1
2-169788985-G-A	c.3115C>T	p.P1039S	Missense	24/28	-	1
2-169788987-G-A	c.3113C>T	p.T1038I	Missense	24/28	-	3
2-169788988-T-C	c.3112A>G	p.T1038A	Missense	24/28	-	2
2-169788991-A-G	c.3109T>C	p.Y1037H	Missense	24/28	-	2
2-169788995-G-A	c.3105C>T	p.F1035=	Synonymous	24/28	-	1
2-169788995-G-C	c.3105C>G	p.F1035L	Missense	24/28	-	1
2-169788995-G-T	c.3105C>A	p.F1035L	Missense	24/28	-	1
2-169788997-A-G	c.3103T>C	p.F1035L	Missense	24/28	-	1
2-169788999-G-A	c.3101C>T	p.A1034V	Missense	24/28	-	1
2-169789006-C-G	c.3094G>C	p.G1032R	Missense	24/28	-	1
2-169789009-G-A	c.3091C>T	p.L1031F	Missense	24/28	-	1
2-169789013-T-A	c.3087A>T	p.T1029=	Synonymous	24/28	-	1
2-169789013-T-C	c.3087A>G	p.T1029=	Synonymous	24/28	-	1
2-169789013-T-G	c.3087A>C	p.T1029=	Synonymous	24/28	-	1
2-169789014-G-A	c.3086C>T	p.T1029I	Missense	24/28	-	2
2-169789016-T-A	c.3084A>T	p.A1028=	Synonymous	24/28	-	30
2-169789016-T-C	c.3084A>G	p.A1028=	Synonymous	24/28	-	47
2-169789016-T-G	c.3084A>C	p.A1028=	Synonymous	24/28	-	4
2-169789017-G-A	c.3083C>T	p.A1028V	Missense	24/28	-	6
2-169789017-G-T	c.3083C>A	p.A1028E	Missense	24/28	-	1
2-169789018-C-G	c.3082G>C	p.A1028P	Missense	24/28	-	1
2-169789019-A-T	c.3081T>A	p.S1027R	Missense	24/28	-	1
2-169789028-A-C	c.3072T>G	p.V1024=	Synonymous	24/28	-	1
2-169789028-A-G	c.3072T>C	p.V1024=	Synonymous	24/28	-	1
2-169789028-A-T	c.3072T>A	p.V1024=	Synonymous	24/28	-	1
2-169789032-G-T	c.3068C>A	p.A1023E	Missense	24/28	-	2
2-169789033-C-T	c.3067G>A	p.A1023T	Missense	24/28	-	1
2-169789034-A-C	c.3066T>G	p.S1022=	Synonymous	24/28	-	1
2-169789034-A-G	c.3066T>C	p.S1022=	Synonymous	24/28	-	2
2-169789034-A-T	c.3066T>A	p.S1022=	Synonymous	24/28	-	1
2-169789040-C-T	c.3060G>A	p.V1020=	Synonymous	24/28	-	2
2-169789306-T-A	c.3057-263A>T	-	IntronicSNV	-	23/27	5
2-169789306-T-C	c.3057-263A>G	-	IntronicSNV	-	23/27	5
2-169789720-T-C	c.3057-677A>G	-	IntronicSNV	-	23/27	1
2-169790844-C-T	c.3056+850G>A	-	IntronicSNV	-	23/27	1
2-169791438-A-G	c.3056+256T>C	-	IntronicSNV	-	23/27	22
2-169791595-T-C	c.3056+99A>G	-	IntronicSNV	-	23/27	1
2-169791602-G-A	c.3056+92C>T	-	IntronicSNV	-	23/27	1
2-169791691-C-T	c.3056+3G>A	-	IntronicSNV	-	23/27	1
2-169791693-C-A	c.3056+1G>T	-	IntronicSNV	-	23/27	1
2-169791703-T-C	c.3047A>G	p.Y1016C	Missense	23/28	-	1
2-169791705-G-A	c.3045C>T	p.S1015=	Synonymous	23/28	-	1
2-169791706-C-T	c.3044G>A	p.S1015N	Missense	23/28	-	6
2-169791708-G-A	c.3042C>T	p.F1014=	Synonymous	23/28	-	7
2-169791708-G-GA	c.3041dup	p.S1015Qfs*31	Frameshift	23/28	-	1
2-169791713-G-A	c.3037C>T	p.H1013Y	Missense	23/28	-	3
2-169791714-G-A	c.3036C>T	p.L1012=	Synonymous	23/28	-	8
2-169791714-G-C	c.3036C>G	p.L1012=	Synonymous	23/28	-	2
2-169791714-G-T	c.3036C>A	p.L1012=	Synonymous	23/28	-	2
2-169791725-T-A	c.3025A>T	p.N1009Y	Missense	23/28	-	1
2-169791726-G-A	c.3024C>T	p.S1008=	Synonymous	23/28	-	4
2-169791726-G-C	c.3024C>G	p.S1008=	Synonymous	23/28	-	1
2-169791726-G-T	c.3024C>A	p.S1008=	Synonymous	23/28	-	1
2-169791727-G-A	c.3023C>T	p.S1008F	Missense	23/28	-	5
2-169791729-G-A	c.3021C>T	p.I1007=	Synonymous	23/28	-	1
2-169791731-T-C	c.3019A>G	p.I1007V	Missense	23/28	-	1
2-169791736-T-C	c.3014A>G	p.Y1005C	Missense	23/28	-	1
2-169791739-C-A	c.3011G>T	p.G1004V	Missense	23/28	-	1
2-169791739-C-T	c.3011G>A	p.G1004D	Missense	23/28	-	7
2-169791742-C-T	c.3008G>A	p.G1003E	Missense	23/28	-	1
2-169791743-C-G	c.3007G>C	p.G1003R	Missense	23/28	-	1
2-169791743-C-T	c.3007G>A	p.G1003R	Missense	23/28	-	1
2-169791746-A-G	c.3004T>C	p.Y1002H	Missense	23/28	-	1
2-169791747-T-C	c.3003A>G	p.R1001=	Synonymous	23/28	-	3
2-169791749-T-G	c.3001A>C	p.R1001=	Synonymous	23/28	-	3
2-169791754-G-A	c.2996C>T	p.S999F	Missense	23/28	-	2
2-169791755-A-C	c.2995T>G	p.S999A	Missense	23/28	-	1
2-169791755-A-G	c.2995T>C	p.S999P	Missense	23/28	-	1
2-169791760-G-T	c.2990C>A	p.S997Y	Missense	23/28	-	1
2-169791765-C-A	c.2985G>T	p.A995=	Synonymous	23/28	-	1
2-169791765-C-G	c.2985G>C	p.A995=	Synonymous	23/28	-	1
2-169791765-C-T	c.2985G>A	p.A995=	Synonymous	23/28	-	5
2-169791766-G-A	c.2984C>T	p.A995V	Missense	23/28	-	10
2-169791769-A-G	c.2981T>C	p.I994T	Missense	23/28	-	1
2-169791777-G-A	c.2973C>T	p.I991=	Synonymous	23/28	-	1
2-169791777-G-T	c.2973C>A	p.I991=	Synonymous	23/28	-	1
2-169791779-T-C	c.2971A>G	p.I991V	Missense	23/28	-	1
2-169791785-G-T	c.2965C>A	p.Q989K	Missense	23/28	-	3
2-169791786-G-A	c.2964C>T	p.A988=	Synonymous	23/28	-	1
2-169791798-G-C	c.2952C>G	p.C984W	Missense	23/28	-	1
2-169791799-CA-GT	c.2950_2951delinsAC	p.C984T	Missense	23/28	-	1
2-169791806-C-G	c.2944G>C	p.G982R	Missense	23/28	-	8
2-169791806-C-T	c.2944G>A	p.G982R	Missense	23/28	-	26
2-169791807-G-A	c.2943C>T	p.Y981=	Synonymous	23/28	-	3
2-169791811-A-AT	c.2938dup	p.I980Nfs*31	Frameshift	23/28	-	1
2-169791815-T-C	c.2935A>G	p.N979D	Missense	23/28	-	1
2-169791818-CT-C	c.2931del	p.A978Pfs*29	Frameshift	23/28	-	1
2-169791823-T-C	c.2927A>G	p.Q976R	Missense	23/28	-	4
2-169791830-C-A	c.2920G>T	p.A974S	Missense	23/28	-	1
2-169791832-G-A	c.2918C>T	p.T973I	Missense	23/28	-	1
2-169791835-T-C	c.2915A>G	p.K972R	Missense	23/28	-	2
2-169791832-GTCTTGAAGGGCT-G	c.2906_2917del	p.K969_K972del	InFrameDeletion	23/28	-	1
2-169791837-G-C	c.2913C>G	p.F971L	Missense	23/28	-	1
2-169791840-G-A	c.2910C>T	p.P970=	Synonymous	23/28	-	1
2-169791840-G-C	c.2910C>G	p.P970=	Synonymous	23/28	-	1
2-169791840-G-T	c.2910C>A	p.P970=	Synonymous	23/28	-	1
2-169791842-G-A	c.2908C>T	p.P970S	Missense	23/28	-	7
2-169791843-C-T	c.2907G>A	p.K969=	Synonymous	23/28	-	1
2-169791846-C-A	c.2904G>T	p.E968D	Missense	23/28	-	1
2-169791846-C-G	c.2904G>C	p.E968D	Missense	23/28	-	1
2-169791848-C-T	c.2902G>A	p.E968K	Missense	23/28	-	2
2-169791849-C-T	c.2901G>A	p.L967=	Synonymous	23/28	-	2
2-169791850-AG-GA	c.2899_2900delinsTC	p.L967S	Missense	23/28	-	1
2-169791857-T-A	c.2893A>T	p.T965S	Missense	23/28	-	1
2-169791858-C-A	c.2892G>T	p.E964D	Missense	23/28	-	1
2-169791858-C-G	c.2892G>C	p.E964D	Missense	23/28	-	1
2-169791866-C-T	c.2884G>A	p.A962T	Missense	23/28	-	4
2-169791872-T-C	c.2878A>G	p.I960V	Missense	23/28	-	1
2-169791874-A-C	c.2876T>G	p.F959C	Missense	23/28	-	1
2-169791877-C-T	c.2873G>A	p.R958Q	Missense	23/28	-	5
2-169791878-G-A	c.2872C>T	p.R958W	Missense	23/28	-	2
2-169791880-C-A	c.2870G>T	p.R957M	Missense	23/28	-	1
2-169791884-C-T	c.2866G>A	p.E956K	Missense	23/28	-	7
2-169791886-T-G	c.2864A>C	p.K955T	Missense	23/28	-	2
2-169791890-C-A	c.2860G>T	p.G954*	Nonsense	23/28	-	1
2-169791890-C-G	c.2860G>C	p.G954R	Missense	23/28	-	1
2-169791890-C-T	c.2860G>A	p.G954R	Missense	23/28	-	1
2-169791891-A-G	c.2859T>C	p.I953=	Synonymous	23/28	-	1
2-169791891-A-T	c.2859T>A	p.I953=	Synonymous	23/28	-	1
2-169791893-T-C	c.2857A>G	p.I953V	Missense	23/28	-	1
2-169791896-C-T	c.2854G>A	p.G952R	Missense	23/28	-	2
2-169791898-G-A	c.2852C>T	p.A951V	Missense	23/28	-	2
2-169791906-G-A	c.2844C>T	p.R948=	Synonymous	23/28	-	1
2-169791907-C-G	c.2843G>C	p.R948P	Missense	23/28	-	1
2-169791907-C-T	c.2843G>A	p.R948H	Missense	23/28	-	2
2-169791908-G-A	c.2842C>T	p.R948C	Missense	23/28	-	6
2-169791911-T-C	c.2839A>G	p.I947V	Missense	23/28	-	1
2-169791919-A-C	c.2831T>G	p.L944R	Missense	23/28	-	2
2-169791920-G-C	c.2830C>G	p.L944V	Missense	23/28	-	1
2-169791922-G-A	c.2828C>T	p.A943V	Missense	23/28	-	1
2-169791925-T-A	c.2825A>T	p.E942V	Missense	23/28	-	4
2-169791926-C-T	c.2824G>A	p.E942K	Missense	23/28	-	2
2-169791928-T-C	c.2822A>G	p.N941S	Missense	23/28	-	1
2-169791933-A-C	c.2817T>G	p.I939M	Missense	23/28	-	2
2-169792171-C-T	c.2815-236G>A	-	IntronicSNV	-	22/27	13
2-169792188-C-G	c.2815-253G>C	-	IntronicSNV	-	22/27	1
2-169792421-A-G	c.2814+319T>C	-	IntronicSNV	-	22/27	1
2-169792673-G-A	c.2814+67C>T	-	IntronicSNV	-	22/27	1
2-169792737-T-A	c.2814+3A>T	-	IntronicSNV	-	22/27	1
2-169792742-G-T	c.2812C>A	p.Q938K	Missense	22/28	-	1
2-169792744-C-A	c.2810G>T	p.G937V	Missense	22/28	-	1
2-169792744-C-G	c.2810G>C	p.G937A	Missense	22/28	-	1
2-169792745-C-G	c.2809G>C	p.G937R	Missense	22/28	-	3
2-169792745-C-T	c.2809G>A	p.G937R	Missense	22/28	-	2
2-169792754-C-T	c.2800G>A	p.E934K	Missense	22/28	-	1
2-169792759-G-A	c.2795C>T	p.A932V	Missense	22/28	-	1
2-169792760-C-A	c.2794G>T	p.A932S	Missense	22/28	-	1
2-169792762-T-G	c.2792A>C	p.Q931P	Missense	22/28	-	1
2-169792766-T-A	c.2788A>T	p.K930*	Nonsense	22/28	-	1
2-169792769-C-T	c.2785G>A	p.D929N	Missense	22/28	-	1
2-169792771-C-T	c.2783G>A	p.R928Q	Missense	22/28	-	2
2-169792772-G-A	c.2782C>T	p.R928*	Nonsense	22/28	-	9
2-169792772-G-C	c.2782C>G	p.R928G	Missense	22/28	-	3
2-169792772-G-T	c.2782C>A	p.R928=	Synonymous	22/28	-	1
2-169792773-A-T	c.2781T>A	p.S927=	Synonymous	22/28	-	2
2-169792776-G-A	c.2778C>T	p.A926=	Synonymous	22/28	-	3
2-169792776-G-C	c.2778C>G	p.A926=	Synonymous	22/28	-	1
2-169792778-C-A	c.2776G>T	p.A926S	Missense	22/28	-	1
2-169792778-C-G	c.2776G>C	p.A926P	Missense	22/28	-	3
2-169792783-C-T	c.2771G>A	p.G924E	Missense	22/28	-	5
2-169792784-C-T	c.2770G>A	p.G924R	Missense	22/28	-	4
2-169792786-G-A	c.2768C>T	p.T923I	Missense	22/28	-	2
2-169792787-T-G	c.2767A>C	p.T923P	Missense	22/28	-	3
2-169792790-A-G	c.2764T>C	p.L922=	Synonymous	22/28	-	3
2-169792794-C-T	c.2760G>A	p.R920=	Synonymous	22/28	-	1
2-169792796-T-G	c.2758A>C	p.R920=	Synonymous	22/28	-	1
2-169792796-T-C	c.2758A>G	p.R920G	Missense	22/28	-	1
2-169792795-CTGG-C	c.2756_2758del	p.T919del	InFrameDeletion	22/28	-	2
2-169792799-T-C	c.2755A>G	p.T919A	Missense	22/28	-	2
2-169792807-G-A	c.2747C>T	p.A916V	Missense	22/28	-	2
2-169792817-A-C	c.2737T>G	p.L913V	Missense	22/28	-	1
2-169792824-G-A	c.2730C>T	p.F910=	Synonymous	22/28	-	2
2-169792829-G-A	c.2725C>T	p.P909S	Missense	22/28	-	1
2-169792830-G-A	c.2724C>T	p.F908=	Synonymous	22/28	-	1
2-169792831-A-G	c.2723T>C	p.F908S	Missense	22/28	-	1
2-169792839-C-T	c.2715G>A	p.L905=	Synonymous	22/28	-	1
2-169792845-G-A	c.2709C>T	p.V903=	Synonymous	22/28	-	1
2-169792846-A-C	c.2708T>G	p.V903G	Missense	22/28	-	1
2-169792851-G-C	c.2703C>G	p.S901R	Missense	22/28	-	1
2-169792851-G-T	c.2703C>A	p.S901R	Missense	22/28	-	1
2-169792852-C-A	c.2702G>T	p.S901I	Missense	22/28	-	1
2-169792852-C-T	c.2702G>A	p.S901N	Missense	22/28	-	4
2-169792854-C-A	c.2700G>T	p.L900=	Synonymous	22/28	-	1
2-169792854-C-G	c.2700G>C	p.L900=	Synonymous	22/28	-	1
2-169792854-C-T	c.2700G>A	p.L900=	Synonymous	22/28	-	1
2-169792856-G-C	c.2698C>G	p.L900V	Missense	22/28	-	5
2-169792857-C-A	c.2697G>T	p.K899N	Missense	22/28	-	1
2-169792857-C-G	c.2697G>C	p.K899N	Missense	22/28	-	1
2-169792860-C-T	c.2694G>A	p.W898*	Nonsense	22/28	-	3
2-169792862-A-C	c.2692T>G	p.W898G	Missense	22/28	-	1
2-169792862-CA-C	c.2692del	p.W898Gfs*3	Frameshift	22/28	-	1
2-169792869-G-A	c.2685C>T	p.S895=	Synonymous	22/28	-	4
2-169792872-G-A	c.2682C>T	p.F894=	Synonymous	22/28	-	1
2-169792876-G-A	c.2678C>T	p.A893V	Missense	22/28	-	1
2-169792877-C-A	c.2677G>T	p.A893S	Missense	22/28	-	4
2-169792881-G-A	c.2673C>T	p.I891=	Synonymous	22/28	-	5
2-169792882-A-G	c.2672T>C	p.I891T	Missense	22/28	-	1
2-169792886-T-A	c.2668A>T	p.M890L	Missense	22/28	-	1
2-169792886-T-G	c.2668A>C	p.M890L	Missense	22/28	-	2
2-169792893-AG-CA	c.2660_2661delinsTG	p.T887M	Missense	22/28	-	1
2-169792898-C-T	c.2656G>A	p.V886I	Missense	22/28	-	2
2-169792901-T-C	c.2653A>G	p.N885D	Missense	22/28	-	1
2-169792916-C-A	c.2638G>T	p.V880F	Missense	22/28	-	1
2-169792918-A-C	c.2636T>G	p.I879R	Missense	22/28	-	1
2-169792918-A-G	c.2636T>C	p.I879T	Missense	22/28	-	2
2-169792921-A-T	c.2633T>A	p.M878K	Missense	22/28	-	1
2-169792923-C-T	c.2631G>A	p.G877=	Synonymous	22/28	-	2
2-169792924-C-T	c.2630G>A	p.G877E	Missense	22/28	-	4
2-169792925-C-T	c.2629G>A	p.G877R	Missense	22/28	-	1
2-169792926-G-A	c.2628C>T	p.I876=	Synonymous	22/28	-	1
2-169792926-G-C	c.2628C>G	p.I876M	Missense	22/28	-	1
2-169792930-T-A	c.2624A>T	p.Q875L	Missense	22/28	-	1
2-169792931-G-A	c.2623C>T	p.Q875*	Nonsense	22/28	-	1
2-169792934-A-G	c.2620T>C	p.S874P	Missense	22/28	-	1
2-169792937-C-T	c.2617G>A	p.G873S	Missense	22/28	-	1
2-169792938-G-A	c.2616C>T	p.A872=	Synonymous	22/28	-	3
2-169792938-G-C	c.2616C>G	p.A872=	Synonymous	22/28	-	1
2-169792938-G-T	c.2616C>A	p.A872=	Synonymous	22/28	-	1
2-169794431-C-T	c.2611-1488G>A	-	IntronicSNV	-	21/27	1
2-169795467-A-G	c.2611-2524T>C	-	IntronicSNV	-	21/27	1
2-169796288-T-A	c.2611-3345A>T	-	IntronicSNV	-	21/27	1
2-169796288-T-C	c.2611-3345A>G	-	IntronicSNV	-	21/27	1
2-169797060-A-G	c.2610+4055T>C	-	IntronicSNV	-	21/27	1
2-169797652-T-C	c.2610+3463A>G	-	IntronicSNV	-	21/27	1
2-169798619-T-C	c.2610+2496A>G	-	IntronicSNV	-	21/27	2
2-169799010-A-G	c.2610+2105T>C	-	IntronicSNV	-	21/27	2
2-169800273-A-AC	c.2610+841dup	-	IntronicInsertion	-	21/27	8
2-169800273-A-ACATG	c.2610+841_2610+842insCATG	-	IntronicInsertion	-	21/27	8
2-169800273-A-ACGTG	c.2610+841_2610+842insCACG	-	IntronicInsertion	-	21/27	8
2-169800274-C-CCGTG	c.2610+840_2610+841insCACG	-	IntronicInsertion	-	21/27	1
2-169801115-C-A	c.2610G>T	p.G870=	Synonymous	21/28	-	1
2-169801115-C-G	c.2610G>C	p.G870=	Synonymous	21/28	-	1
2-169801115-C-T	c.2610G>A	p.G870=	Synonymous	21/28	-	1
2-169801116-C-A	c.2609G>T	p.G870V	Missense	21/28	-	2
2-169801117-C-A	c.2608G>T	p.G870W	Missense	21/28	-	2
2-169801119-T-G	c.2606A>C	p.Q869P	Missense	21/28	-	1
2-169801120-G-A	c.2605C>T	p.Q869*	Nonsense	21/28	-	2
2-169801122-A-T	c.2603T>A	p.V868D	Missense	21/28	-	1
2-169801125-T-G	c.2600A>C	p.Q867P	Missense	21/28	-	2
2-169801131-G-A	c.2594C>T	p.A865V	Missense	21/28	-	16
2-169801140-G-A	c.2585C>T	p.A862V	Missense	21/28	-	2
2-169801145-T-A	c.2580A>T	p.R860S	Missense	21/28	-	1
2-169801145-T-C	c.2580A>G	p.R860=	Synonymous	21/28	-	1
2-169801148-T-A	c.2577A>T	p.T859=	Synonymous	21/28	-	1
2-169801149-G-C	c.2576C>G	p.T859R	Missense	21/28	-	1
2-169801156-A-C	c.2569T>G	p.L857V	Missense	21/28	-	2
2-169801158-G-A	c.2567C>T	p.A856V	Missense	21/28	-	1
2-169801162-C-A	c.2563G>T	p.G855*	Nonsense	21/28	-	1
2-169801162-C-G	c.2563G>C	p.G855R	Missense	21/28	-	1
2-169801162-C-T	c.2563G>A	p.G855R	Missense	21/28	-	8
2-169801163-A-T	c.2562T>A	p.P854=	Synonymous	21/28	-	1
2-169801164-G-A	c.2561C>T	p.P854L	Missense	21/28	-	1
2-169801165-G-A	c.2560C>T	p.P854S	Missense	21/28	-	1
2-169801166-G-T	c.2559C>A	p.S853R	Missense	21/28	-	1
2-169801167-C-A	c.2558G>T	p.S853I	Missense	21/28	-	1
2-169801172-TCT-ATG	c.2551_2553delinsCAT	p.R851H	Missense	21/28	-	1
2-169801173-C-T	c.2552G>A	p.R851K	Missense	21/28	-	6
2-169801175-G-A	c.2550C>T	p.L850=	Synonymous	21/28	-	2
2-169801175-G-C	c.2550C>G	p.L850=	Synonymous	21/28	-	1
2-169801175-G-T	c.2550C>A	p.L850=	Synonymous	21/28	-	1
2-169801176-A-T	c.2549T>A	p.L850H	Missense	21/28	-	1
2-169801178-G-A	c.2547C>T	p.D849=	Synonymous	21/28	-	1
2-169801175-GAGGTCATCAAACC-G	c.2537_2549del	p.W846Sfs*8	Frameshift	21/28	-	1
2-169801180-C-T	c.2545G>A	p.D849N	Missense	21/28	-	1
2-169801182-T-C	c.2543A>G	p.D848G	Missense	21/28	-	1
2-169801183-C-T	c.2542G>A	p.D848N	Missense	21/28	-	1
2-169801183-TC-T	c.2542del	p.D848Mfs*10	Frameshift	21/28	-	1
2-169801198-C-A	c.2527G>T	p.D843Y	Missense	21/28	-	2
2-169801198-C-G	c.2527G>C	p.D843H	Missense	21/28	-	1
2-169801201-G-T	c.2524C>A	p.Q842K	Missense	21/28	-	3
2-169801203-C-T	c.2522G>A	p.G841E	Missense	21/28	-	1
2-169801205-C-A	c.2520G>T	p.L840=	Synonymous	21/28	-	1
2-169801209-A-G	c.2516T>C	p.M839T	Missense	21/28	-	1
2-169801214-C-G	c.2511G>C	p.R837S	Missense	21/28	-	1
2-169801215-C-A	c.2510G>T	p.R837M	Missense	21/28	-	1
2-169801220-A-C	c.2505T>G	p.G835=	Synonymous	21/28	-	1
2-169801220-A-G	c.2505T>C	p.G835=	Synonymous	21/28	-	1
2-169801220-A-T	c.2505T>A	p.G835=	Synonymous	21/28	-	1
2-169801221-C-T	c.2504G>A	p.G835D	Missense	21/28	-	2
2-169801224-A-C	c.2501T>G	p.F834C	Missense	21/28	-	1
2-169801226-T-C	c.2499A>G	p.K833=	Synonymous	21/28	-	1
2-169801226-T-G	c.2499A>C	p.K833N	Missense	21/28	-	1
2-169801230-C-A	c.2495G>T	p.R832L	Missense	21/28	-	1
2-169801230-C-T	c.2495G>A	p.R832H	Missense	21/28	-	1
2-169801231-G-A	c.2494C>T	p.R832C	Missense	21/28	-	11
2-169801231-G-C	c.2494C>G	p.R832G	Missense	21/28	-	1
2-169801231-G-T	c.2494C>A	p.R832S	Missense	21/28	-	1
2-169801236-CCTTTTTGT-C	c.2482_2489del	p.T828Afs*3	Frameshift	21/28	-	1
2-169801237-T-TA	c.2487_2488insT	p.R830*	Nonsense	21/28	-	1
2-169801238-T-A	c.2487A>T	p.K829N	Missense	21/28	-	1
2-169801238-T-G	c.2487A>C	p.K829N	Missense	21/28	-	1
2-169801240-T-C	c.2485A>G	p.K829E	Missense	21/28	-	1
2-169801251-T-C	c.2474A>G	p.E825G	Missense	21/28	-	1
2-169801252-C-T	c.2473G>A	p.E825K	Missense	21/28	-	1
2-169801253-C-T	c.2472G>A	p.G824=	Synonymous	21/28	-	1
2-169801254-C-A	c.2471G>T	p.G824V	Missense	21/28	-	2
2-169801254-C-T	c.2471G>A	p.G824E	Missense	21/28	-	1
2-169801264-C-T	c.2461G>A	p.A821T	Missense	21/28	-	1
2-169801269-G-A	c.2456C>T	p.A819V	Missense	21/28	-	1
2-169801272-T-A	c.2453A>T	p.Y818F	Missense	21/28	-	1
2-169801275-C-T	c.2450G>A	p.G817E	Missense	21/28	-	5
2-169801276-C-G	c.2449G>C	p.G817R	Missense	21/28	-	2
2-169801276-C-T	c.2449G>A	p.G817R	Missense	21/28	-	5
2-169801323-A-G	c.2448+44T>C	-	IntronicSNV	-	20/27	1
2-169801368-T-A	c.2447A>T	p.Q816L	Missense	20/28	-	1
2-169801371-A-G	c.2444T>C	p.L815P	Missense	20/28	-	1
2-169801390-A-C	c.2425T>G	p.S809A	Missense	20/28	-	1
2-169801392-A-G	c.2423T>C	p.V808A	Missense	20/28	-	1
2-169801397-G-A	c.2418C>T	p.G806=	Synonymous	20/28	-	1
2-169801397-G-C	c.2418C>G	p.G806=	Synonymous	20/28	-	1
2-169801397-G-T	c.2418C>A	p.G806=	Synonymous	20/28	-	1
2-169801398-C-A	c.2417G>T	p.G806V	Missense	20/28	-	1
2-169801398-C-G	c.2417G>C	p.G806A	Missense	20/28	-	1
2-169801398-C-T	c.2417G>A	p.G806D	Missense	20/28	-	4
2-169801403-T-C	c.2412A>G	p.A804=	Synonymous	20/28	-	6
2-169801410-AA-TC	c.2404_2405delinsGA	p.F802D	Missense	20/28	-	1
2-169801413-A-C	c.2402T>G	p.L801R	Missense	20/28	-	3
2-169801415-T-C	c.2400A>G	p.L800=	Synonymous	20/28	-	1
2-169801416-A-G	c.2399T>C	p.L800P	Missense	20/28	-	5
2-169801419-CA-GT	c.2395_2396delinsAC	p.C799T	Missense	20/28	-	1
2-169801425-C-T	c.2390G>A	p.G797D	Missense	20/28	-	2
2-169801424-AC-A	c.2390del	p.G797Vfs*7	Frameshift	20/28	-	1
2-169801426-C-A	c.2389G>T	p.G797C	Missense	20/28	-	1
2-169801427-A-C	c.2388T>G	p.N796K	Missense	20/28	-	1
2-169801427-A-T	c.2388T>A	p.N796K	Missense	20/28	-	1
2-169801435-G-A	c.2380C>T	p.Q794*	Nonsense	20/28	-	3
2-169801445-T-C	c.2370A>G	p.E790=	Synonymous	20/28	-	1
2-169801447-C-T	c.2368G>A	p.E790K	Missense	20/28	-	2
2-169801450-C-G	c.2365G>C	p.E789Q	Missense	20/28	-	1
2-169801450-C-T	c.2365G>A	p.E789K	Missense	20/28	-	2
2-169801452-T-C	c.2363A>G	p.K788R	Missense	20/28	-	1
2-169801459-G-A	c.2356C>T	p.P786S	Missense	20/28	-	4
2-169801467-A-G	c.2348T>C	p.F783S	Missense	20/28	-	2
2-169801488-A-G	c.2344-17T>C	-	IntronicSNV	-	19/27	15
2-169801488-A-T	c.2344-17T>A	-	IntronicSNV	-	19/27	15
2-169801628-A-C	c.2344-157T>G	-	IntronicSNV	-	19/27	3
2-169801905-T-A	c.2344-434A>T	-	IntronicSNV	-	19/27	1
2-169801905-T-C	c.2344-434A>G	-	IntronicSNV	-	19/27	1
2-169802252-G-A	c.2344-781C>T	-	IntronicSNV	-	19/27	7
2-169802252-G-T	c.2344-781C>A	-	IntronicSNV	-	19/27	7
2-169802310-G-A	c.2344-839C>T	-	IntronicSNV	-	19/27	1
2-169802310-G-T	c.2344-839C>A	-	IntronicSNV	-	19/27	1
2-169802329-C-A	c.2344-858G>T	-	IntronicSNV	-	19/27	1
2-169802594-C-G	c.2344-1123G>C	-	IntronicSNV	-	19/27	2
2-169802594-C-T	c.2344-1123G>A	-	IntronicSNV	-	19/27	2
2-169803568-C-T	c.2344-2097G>A	-	IntronicSNV	-	19/27	1
2-169803674-C-T	c.2344-2203G>A	-	IntronicSNV	-	19/27	1
2-169805511-A-C	c.2344-4040T>G	-	IntronicSNV	-	19/27	1
2-169806321-A-G	c.2344-4850T>C	-	IntronicSNV	-	19/27	1
2-169806728-G-A	c.2344-5257C>T	-	IntronicSNV	-	19/27	1
2-169807482-C-G	c.2344-6011G>C	-	IntronicSNV	-	19/27	2
2-169808522-A-T	c.2343+5952T>A	-	IntronicSNV	-	19/27	2
2-169809672-G-T	c.2343+4802C>A	-	IntronicSNV	-	19/27	1
2-169810440-C-T	c.2343+4034G>A	-	IntronicSNV	-	19/27	1
2-169811224-T-C	c.2343+3250A>G	-	IntronicSNV	-	19/27	4
2-169812217-T-A	c.2343+2257A>T	-	IntronicSNV	-	19/27	1
2-169812217-T-C	c.2343+2257A>G	-	IntronicSNV	-	19/27	2
2-169813318-T-A	c.2343+1156A>T	-	IntronicSNV	-	19/27	1
2-169813318-T-C	c.2343+1156A>G	-	IntronicSNV	-	19/27	1
2-169814347-A-G	c.2343+127T>C	-	IntronicSNV	-	19/27	6
2-169814347-A-T	c.2343+127T>A	-	IntronicSNV	-	19/27	4
2-169814473-C-A	c.2343+1G>T	-	IntronicSNV	-	19/27	3
2-169814473-C-T	c.2343+1G>A	-	IntronicSNV	-	19/27	1
2-169814472-ACC-A	c.2343_2343+1del	-	SpliceDonorDeletion	19/28	-	1
2-169814472-A-AC	c.2343+1dup	-	Frameshift	19/28	-	1
2-169814476-C-T	c.2341G>A	p.G781R	Missense	19/28	-	1
2-169814479-G-A	c.2338C>T	p.L780F	Missense	19/28	-	2
2-169814479-G-C	c.2338C>G	p.L780V	Missense	19/28	-	2
2-169814479-G-T	c.2338C>A	p.L780I	Missense	19/28	-	2
2-169814485-G-C	c.2332C>G	p.Q778E	Missense	19/28	-	1
2-169814489-GA-G	c.2327del	p.F776Sfs*28	Frameshift	19/28	-	1
2-169814497-A-T	c.2320T>A	p.F774I	Missense	19/28	-	3
2-169814497-A-AG	c.2319dup	p.F774Lfs*14	Frameshift	19/28	-	1
2-169814500-C-A	c.2317G>T	p.A773S	Missense	19/28	-	1
2-169814501-A-C	c.2316T>G	p.Y772*	Nonsense	19/28	-	1
2-169814501-A-T	c.2316T>A	p.Y772*	Nonsense	19/28	-	1
2-169814507-G-C	c.2310C>G	p.P770=	Synonymous	19/28	-	1
2-169814513-G-A	c.2304C>T	p.V768=	Synonymous	19/28	-	1
2-169814513-G-C	c.2304C>G	p.V768=	Synonymous	19/28	-	1
2-169814513-G-T	c.2304C>A	p.V768=	Synonymous	19/28	-	1
2-169814517-G-A	c.2300C>T	p.T767I	Missense	19/28	-	1
2-169814519-C-A	c.2298G>T	p.G766=	Synonymous	19/28	-	2
2-169814519-C-T	c.2298G>A	p.G766=	Synonymous	19/28	-	2
2-169814520-C-T	c.2297G>A	p.G766E	Missense	19/28	-	7
2-169814521-C-T	c.2296G>A	p.G766R	Missense	19/28	-	3
2-169814522-G-A	c.2295C>T	p.N765=	Synonymous	19/28	-	2
2-169814523-T-G	c.2294A>C	p.N765T	Missense	19/28	-	1
2-169814525-C-A	c.2292G>T	p.V764=	Synonymous	19/28	-	1
2-169814525-C-G	c.2292G>C	p.V764=	Synonymous	19/28	-	1
2-169814525-C-T	c.2292G>A	p.V764=	Synonymous	19/28	-	2
2-169814537-C-T	c.2280G>A	p.V760=	Synonymous	19/28	-	1
2-169814539-C-T	c.2278G>A	p.V760M	Missense	19/28	-	1
2-169814541-G-A	c.2276C>T	p.S759F	Missense	19/28	-	1
2-169814541-G-T	c.2276C>A	p.S759Y	Missense	19/28	-	2
2-169814543-CCC-GCT	c.2272_2274delinsAGC	p.G758S	Missense	19/28	-	1
2-169814544-C-T	c.2273G>A	p.G758E	Missense	19/28	-	5
2-169814545-C-G	c.2272G>C	p.G758R	Missense	19/28	-	1
2-169814545-C-T	c.2272G>A	p.G758R	Missense	19/28	-	3
2-169814548-C-T	c.2269G>A	p.V757I	Missense	19/28	-	1
2-169814551-G-A	c.2266C>T	p.L756=	Synonymous	19/28	-	1
2-169814554-T-A	c.2263A>T	p.M755L	Missense	19/28	-	1
2-169814554-T-C	c.2263A>G	p.M755V	Missense	19/28	-	1
2-169814554-T-G	c.2263A>C	p.M755L	Missense	19/28	-	1
2-169814573-A-C	c.2244T>G	p.S748R	Missense	19/28	-	2
2-169814573-A-T	c.2244T>A	p.S748R	Missense	19/28	-	2
2-169814575-T-G	c.2242A>C	p.S748R	Missense	19/28	-	2
2-169814575-T-C	c.2242A>G	p.S748G	Missense	19/28	-	1
2-169814582-C-A	c.2235G>T	p.L745=	Synonymous	19/28	-	2
2-169814582-C-G	c.2235G>C	p.L745=	Synonymous	19/28	-	2
2-169814582-C-T	c.2235G>A	p.L745=	Synonymous	19/28	-	3
2-169814584-G-A	c.2233C>T	p.L745=	Synonymous	19/28	-	2
2-169814588-C-A	c.2229G>T	p.R743S	Missense	19/28	-	1
2-169814588-CCT-ATG	c.2227_2229delinsCAT	p.R743H	Missense	19/28	-	2
2-169814588-C-T	c.2229G>A	p.R743=	Synonymous	19/28	-	1
2-169814589-C-G	c.2228G>C	p.R743T	Missense	19/28	-	2
2-169814592-CT-TG	c.2224_2225delinsCA	p.R742Q	Missense	19/28	-	1
2-169814593-T-A	c.2224A>T	p.R742W	Missense	19/28	-	1
2-169814597-TG-T	c.2219del	p.P740Qfs*6	Frameshift	19/28	-	2
2-169814604-G-T	c.2213C>A	p.P738H	Missense	19/28	-	1
2-169814605-G-A	c.2212C>T	p.P738S	Missense	19/28	-	1
2-169814605-G-T	c.2212C>A	p.P738T	Missense	19/28	-	1
2-169814610-A-G	c.2207T>C	p.V736A	Missense	19/28	-	1
2-169814617-C-T	c.2200G>A	p.E734K	Missense	19/28	-	2
2-169814620-G-A	c.2197C>T	p.Q733*	Nonsense	19/28	-	2
2-169814622-A-C	c.2195T>G	p.V732G	Missense	19/28	-	8
2-169814622-A-G	c.2195T>C	p.V732A	Missense	19/28	-	1
2-169814623-C-G	c.2194G>C	p.V732L	Missense	19/28	-	1
2-169814626-G-A	c.2191C>T	p.P731S	Missense	19/28	-	5
2-169814626-G-T	c.2191C>A	p.P731T	Missense	19/28	-	3
2-169814627-A-T	c.2190T>A	p.I730=	Synonymous	19/28	-	1
2-169814629-T-G	c.2188A>C	p.I730L	Missense	19/28	-	1
2-169814632-C-G	c.2185G>C	p.D729H	Missense	19/28	-	1
2-169814636-G-T	c.2181C>A	p.D727E	Missense	19/28	-	1
2-169814655-G-A	c.2179-17C>T	-	IntronicSNV	-	18/27	10
2-169814655-G-T	c.2179-17C>A	-	IntronicSNV	-	18/27	10
2-169814974-C-T	c.2179-336G>A	-	IntronicSNV	-	18/27	1
2-169816936-G-A	c.2179-2298C>T	-	IntronicSNV	-	18/27	1
2-169816936-G-C	c.2179-2298C>G	-	IntronicSNV	-	18/27	1
2-169817403-C-T	c.2179-2765G>A	-	IntronicSNV	-	18/27	1
2-169817713-G-A	c.2178+3003C>T	-	IntronicSNV	-	18/27	2
2-169818035-T-C	c.2178+2681A>G	-	IntronicSNV	-	18/27	1
2-169818302-A-C	c.2178+2414T>G	-	IntronicSNV	-	18/27	1
2-169818623-G-A	c.2178+2093C>T	-	IntronicSNV	-	18/27	1
2-169818764-T-C	c.2178+1952A>G	-	IntronicSNV	-	18/27	1
2-169820618-A-G	c.2178+98T>C	-	IntronicSNV	-	18/27	2
2-169820619-T-C	c.2178+97A>G	-	IntronicSNV	-	18/27	2
2-169820694-C-G	c.2178+22G>C	-	IntronicSNV	-	18/27	1
2-169820694-C-T	c.2178+22G>A	-	IntronicSNV	-	18/27	1
2-169820714-A-G	c.2178+2T>C	-	IntronicSNV	-	18/27	1
2-169820715-ACCT-A	c.2177_2178+1del	-	SpliceDonorDeletion	18/28	18/27	1
2-169820715-C-A	c.2178+1G>T	-	IntronicSNV	-	18/27	3
2-169820715-C-T	c.2178+1G>A	-	IntronicSNV	-	18/27	4
2-169820716-CT-C	c.2177del	p.K726Rfs*20	Frameshift	18/28	-	1
2-169820720-C-G	c.2174G>C	p.R725T	Missense	18/28	-	1
2-169820724-C-T	c.2170G>A	p.D724N	Missense	18/28	-	1
2-169820730-C-T	c.2164G>A	p.E722K	Missense	18/28	-	3
2-169820731-A-T	c.2163T>A	p.Y721*	Nonsense	18/28	-	1
2-169820732-T-C	c.2162A>G	p.Y721C	Missense	18/28	-	2
2-169820738-G-T	c.2156C>A	p.S719Y	Missense	18/28	-	1
2-169820747-T-G	c.2147A>C	p.D716A	Missense	18/28	-	1
2-169820751-C-T	c.2143G>A	p.V715I	Missense	18/28	-	1
2-169820752-AAC-CAT	c.2140_2142delinsATG	p.V714M	Missense	18/28	-	1
2-169820752-A-C	c.2142T>G	p.V714=	Synonymous	18/28	-	1
2-169820752-A-G	c.2142T>C	p.V714=	Synonymous	18/28	-	1
2-169820752-A-T	c.2142T>A	p.V714=	Synonymous	18/28	-	2
2-169820759-A-G	c.2135T>C	p.L712S	Missense	18/28	-	2
2-169820758-T-C	c.2136A>G	p.L712=	Synonymous	18/28	-	1
2-169820760-A-G	c.2134T>C	p.L712=	Synonymous	18/28	-	5
2-169820763-G-A	c.2131C>T	p.P711S	Missense	18/28	-	1
2-169820763-G-C	c.2131C>G	p.P711A	Missense	18/28	-	1
2-169820764-A-G	c.2130T>C	p.P710=	Synonymous	18/28	-	1
2-169820766-G-A	c.2128C>T	p.P710S	Missense	18/28	-	1
2-169820769-C-T	c.2125G>A	p.E709K	Missense	18/28	-	1
2-169820771-T-C	c.2123A>G	p.H708R	Missense	18/28	-	1
2-169820773-C-A	c.2121G>T	p.V707=	Synonymous	18/28	-	1
2-169820773-C-G	c.2121G>C	p.V707=	Synonymous	18/28	-	1
2-169820773-C-T	c.2121G>A	p.V707=	Synonymous	18/28	-	1
2-169820779-G-T	c.2115C>A	p.Y705*	Nonsense	18/28	-	1
2-169820785-A-C	c.2109T>G	p.L703=	Synonymous	18/28	-	1
2-169820785-A-G	c.2109T>C	p.L703=	Synonymous	18/28	-	1
2-169820785-A-T	c.2109T>A	p.L703=	Synonymous	18/28	-	1
2-169820789-T-A	c.2105A>T	p.Q702L	Missense	18/28	-	1
2-169820792-G-C	c.2102C>G	p.S701C	Missense	18/28	-	1
2-169820793-A-G	c.2101T>C	p.S701P	Missense	18/28	-	2
2-169820798-G-A	c.2096C>T	p.S699F	Missense	18/28	-	1
2-169820801-C-T	c.2093G>A	p.R698H	Missense	18/28	-	12
2-169820807-C-G	c.2087G>C	p.R696P	Missense	18/28	-	1
2-169820807-C-T	c.2087G>A	p.R696Q	Missense	18/28	-	2
2-169820808-G-A	c.2086C>T	p.R696W	Missense	18/28	-	5
2-169820817-C-T	c.2077G>A	p.A693T	Missense	18/28	-	1
2-169821648-G-A	c.2076-830C>T	-	IntronicSNV	-	17/27	1
2-169823402-C-T	c.2075+1535G>A	-	IntronicSNV	-	17/27	1
2-169823408-T-C	c.2075+1529A>G	-	IntronicSNV	-	17/27	1
2-169823867-G-A	c.2075+1070C>T	-	IntronicSNV	-	17/27	1
2-169823867-G-C	c.2075+1070C>G	-	IntronicSNV	-	17/27	1
2-169824739-T-TA	c.2075+197dup	-	IntronicInsertion	-	17/27	4
2-169824742-C-A	c.2075+195G>T	-	IntronicSNV	-	17/27	1
2-169824743-C-A	c.2075+194G>T	-	IntronicSNV	-	17/27	2
2-169824749-C-A	c.2075+188G>T	-	IntronicSNV	-	17/27	3
2-169824934-T-C	c.2075+3A>G	-	IntronicSNV	-	17/27	1
2-169824935-A-G	c.2075+2T>C	-	IntronicSNV	-	17/27	1
2-169824937-C-G	c.2075G>C	p.R692T	Missense	17/28	-	1
2-169824937-C-T	c.2075G>A	p.R692K	Missense	17/28	-	2
2-169824939-TAA-CAT	c.2071_2073delinsATG	p.L691M	Missense	17/28	-	1
2-169824944-T-A	c.2068A>T	p.S690C	Missense	17/28	-	4
2-169824947-C-T	c.2065G>A	p.D689N	Missense	17/28	-	1
2-169824949-T-C	c.2063A>G	p.Q688R	Missense	17/28	-	1
2-169824951-G-C	c.2061C>G	p.Y687*	Nonsense	17/28	-	1
2-169824954-G-T	c.2058C>A	p.S686R	Missense	17/28	-	1
2-169824957-CCC-GCT	c.2053_2055delinsAGC	p.G685S	Missense	17/28	-	1
2-169824957-CC-GT	c.2054_2055delinsAC	p.G685D	Missense	17/28	-	2
2-169824958-C-T	c.2054G>A	p.G685E	Missense	17/28	-	1
2-169824959-C-A	c.2053G>T	p.G685W	Missense	17/28	-	1
2-169824959-C-G	c.2053G>C	p.G685R	Missense	17/28	-	1
2-169824959-C-T	c.2053G>A	p.G685R	Missense	17/28	-	1
2-169824960-T-C	c.2052A>G	p.R684=	Synonymous	17/28	-	1
2-169824962-T-G	c.2050A>C	p.R684=	Synonymous	17/28	-	1
2-169824963-G-T	c.2049C>A	p.S683R	Missense	17/28	-	1
2-169824969-G-A	c.2043C>T	p.T681=	Synonymous	17/28	-	1
2-169824969-G-C	c.2043C>G	p.T681=	Synonymous	17/28	-	1
2-169824969-G-T	c.2043C>A	p.T681=	Synonymous	17/28	-	1
2-169824973-C-T	c.2039G>A	p.R680K	Missense	17/28	-	3
2-169824974-CT-C	c.2038del	p.R680Gfs*12	Frameshift	17/28	-	1
2-169824975-C-A	c.2037G>T	p.A679=	Synonymous	17/28	-	2
2-169824975-C-G	c.2037G>C	p.A679=	Synonymous	17/28	-	2
2-169824975-C-T	c.2037G>A	p.A679=	Synonymous	17/28	-	3
2-169824976-G-A	c.2036C>T	p.A679V	Missense	17/28	-	5
2-169824977-C-A	c.2035G>T	p.A679S	Missense	17/28	-	1
2-169824979-A-G	c.2033T>C	p.L678P	Missense	17/28	-	1
2-169824983-T-C	c.2029A>G	p.M677V	Missense	17/28	-	20
2-169824986-C-A	c.2026G>T	p.D676Y	Missense	17/28	-	4
2-169824986-C-T	c.2026G>A	p.D676N	Missense	17/28	-	1
2-169824989-C-T	c.2023G>A	p.D675N	Missense	17/28	-	2
2-169824993-A-G	c.2019T>C	p.T673=	Synonymous	17/28	-	1
2-169824996-T-A	c.2016A>T	p.A672=	Synonymous	17/28	-	1
2-169824996-T-C	c.2016A>G	p.A672=	Synonymous	17/28	-	1
2-169824997-G-A	c.2015C>T	p.A672V	Missense	17/28	-	1
2-169825619-G-A	c.2011+241C>T	-	IntronicSNV	-	16/27	1
2-169825866-T-C	c.2005A>G	p.I669V	Missense	16/28	-	2
2-169825872-C-G	c.1999G>C	p.E667Q	Missense	16/28	-	2
2-169825875-C-T	c.1996G>A	p.E666K	Missense	16/28	-	8
2-169825881-G-A	c.1990C>T	p.L664F	Missense	16/28	-	2
2-169825883-G-A	c.1988C>T	p.A663V	Missense	16/28	-	2
2-169825887-G-A	c.1984C>T	p.Q662*	Nonsense	16/28	-	1
2-169825892-C-T	c.1979G>A	p.G660E	Missense	16/28	-	3
2-169825893-C-T	c.1978G>A	p.G660R	Missense	16/28	-	5
2-169825894-C-T	c.1977G>A	p.Q659=	Synonymous	16/28	-	1
2-169825895-T-C	c.1976A>G	p.Q659R	Missense	16/28	-	1
2-169825898-C-T	c.1973G>A	p.S658N	Missense	16/28	-	1
2-169825903-CAA-C	c.1966_1967del	p.L656Afs*9	Frameshift	16/28	-	3
2-169825906-AG-CT	c.1964_1965inv	p.T655K	Missense	16/28	-	1
2-169825914-G-T	c.1957C>A	p.L653I	Missense	16/28	-	1
2-169825917-T-C	c.1954A>G	p.T652A	Missense	16/28	-	2
2-169825918-G-A	c.1953C>T	p.F651=	Synonymous	16/28	-	4
2-169825927-A-C	c.1944T>G	p.G648=	Synonymous	16/28	-	1
2-169825927-A-G	c.1944T>C	p.G648=	Synonymous	16/28	-	1
2-169825927-A-T	c.1944T>A	p.G648=	Synonymous	16/28	-	1
2-169825928-C-G	c.1943G>C	p.G648A	Missense	16/28	-	2
2-169825929-C-A	c.1942G>T	p.G648C	Missense	16/28	-	1
2-169825929-CT-C	c.1941del	p.G648Vfs*6	Frameshift	16/28	-	2
2-169825933-CCT-ATG	c.1936_1938delinsCAT	p.R646H	Missense	16/28	-	1
2-169825933-C-T	c.1938G>A	p.R646=	Synonymous	16/28	-	6
2-169825935-T-G	c.1936A>C	p.R646=	Synonymous	16/28	-	2
2-169825934-C-T	c.1937G>A	p.R646K	Missense	16/28	-	2
2-169825937-T-C	c.1934A>G	p.E645G	Missense	16/28	-	1
2-169825938-C-T	c.1933G>A	p.E645K	Missense	16/28	-	7
2-169825939-C-T	c.1932G>A	p.L644=	Synonymous	16/28	-	1
2-169825943-AA-GG	c.1927_1928delinsCC	p.L643P	Missense	16/28	-	1
2-169825945-T-A	c.1926A>T	p.E642D	Missense	16/28	-	1
2-169825949-T-G	c.1922A>C	p.E641A	Missense	16/28	-	1
2-169825950-C-T	c.1921G>A	p.E641K	Missense	16/28	-	3
2-169825954-G-A	c.1917C>T	p.T639=	Synonymous	16/28	-	1
2-169825955-G-A	c.1916C>T	p.T639I	Missense	16/28	-	1
2-169825956-T-C	c.1915A>G	p.T639A	Missense	16/28	-	3
2-169825958-C-T	c.1913G>A	p.G638E	Missense	16/28	-	2
2-169825960-T-G	c.1911A>C	p.R637S	Missense	16/28	-	1
2-169825964-T-A	c.1907A>T	p.E636V	Missense	16/28	-	2
2-169825964-T-C	c.1907A>G	p.E636G	Missense	16/28	-	7
2-169825967-AC-TA	c.1903_1904delinsTA	p.V635*	Nonsense	16/28	-	1
2-169825971-C-A	c.1900G>T	p.A634S	Missense	16/28	-	1
2-169825973-G-A	c.1898C>T	p.T633I	Missense	16/28	-	2
2-169825974-T-G	c.1897A>C	p.T633P	Missense	16/28	-	1
2-169825981-T-A	c.1890A>T	p.E630D	Missense	16/28	-	1
2-169825981-T-G	c.1890A>C	p.E630D	Missense	16/28	-	1
2-169825984-A-G	c.1887T>C	p.F629=	Synonymous	16/28	-	1
2-169825987-A-C	c.1884T>G	p.G628=	Synonymous	16/28	-	2
2-169825987-ACC-TCA	c.1882_1884delinsTGA	p.G628*	Nonsense	16/28	-	1
2-169825987-A-G	c.1884T>C	p.G628=	Synonymous	16/28	-	3
2-169825987-A-T	c.1884T>A	p.G628=	Synonymous	16/28	-	2
2-169825990-A-G	c.1881T>C	p.I627=	Synonymous	16/28	-	1
2-169825991-A-G	c.1880T>C	p.I627T	Missense	16/28	-	1
2-169825994-A-G	c.1877T>C	p.I626T	Missense	16/28	-	1
2-169825997-G-A	c.1874C>T	p.T625I	Missense	16/28	-	1
2-169825997-G-GT	c.1873dup	p.T625Nfs*6	Frameshift	16/28	-	1
2-169826001-C-A	c.1870G>T	p.D624Y	Missense	16/28	-	6
2-169826001-C-G	c.1870G>C	p.D624H	Missense	16/28	-	1
2-169826001-C-T	c.1870G>A	p.D624N	Missense	16/28	-	1
2-169826005-A-C	c.1866T>G	p.A622=	Synonymous	16/28	-	1
2-169826005-A-G	c.1866T>C	p.A622=	Synonymous	16/28	-	1
2-169826005-AG-CT	c.1865_1866inv	p.A622E	Missense	16/28	-	1
2-169826005-A-T	c.1866T>A	p.A622=	Synonymous	16/28	-	1
2-169826006-G-T	c.1865C>A	p.A622D	Missense	16/28	-	1
2-169826007-C-G	c.1864G>C	p.A622P	Missense	16/28	-	1
2-169826013-C-T	c.1858G>A	p.V620I	Missense	16/28	-	2
2-169826014-C-A	c.1857G>T	p.T619=	Synonymous	16/28	-	3
2-169826014-C-G	c.1857G>C	p.T619=	Synonymous	16/28	-	3
2-169826014-C-T	c.1857G>A	p.T619=	Synonymous	16/28	-	4
2-169826015-G-A	c.1856C>T	p.T619M	Missense	16/28	-	4
2-169826016-T-C	c.1855A>G	p.T619A	Missense	16/28	-	3
2-169826018-G-A	c.1853C>T	p.S618F	Missense	16/28	-	1
2-169826020-C-A	c.1851G>T	p.L617F	Missense	16/28	-	1
2-169826020-C-T	c.1851G>A	p.L617=	Synonymous	16/28	-	1
2-169826022-A-G	c.1849T>C	p.L617=	Synonymous	16/28	-	1
2-169826024-C-A	c.1847G>T	p.R616L	Missense	16/28	-	1
2-169826024-C-T	c.1847G>A	p.R616H	Missense	16/28	-	2
2-169826025-G-A	c.1846C>T	p.R616C	Missense	16/28	-	2
2-169826025-G-C	c.1846C>G	p.R616G	Missense	16/28	-	3
2-169826027-T-A	c.1844A>T	p.H615L	Missense	16/28	-	1
2-169826027-T-C	c.1844A>G	p.H615R	Missense	16/28	-	1
2-169826028-G-C	c.1843C>G	p.H615D	Missense	16/28	-	1
2-169826029-A-C	c.1842T>G	p.A614=	Synonymous	16/28	-	1
2-169826029-A-G	c.1842T>C	p.A614=	Synonymous	16/28	-	1
2-169826029-A-T	c.1842T>A	p.A614=	Synonymous	16/28	-	1
2-169826030-G-A	c.1841C>T	p.A614V	Missense	16/28	-	2
2-169826030-G-T	c.1841C>A	p.A614D	Missense	16/28	-	1
2-169826048-T-TTG	c.1822_1823insCA	p.H608Pfs*47	Frameshift	16/28	-	1
2-169826049-G-A	c.1822C>T	p.H608Y	Missense	16/28	-	3
2-169826049-G-T	c.1822C>A	p.H608N	Missense	16/28	-	1
2-169826057-T-G	c.1814A>C	p.Q605P	Missense	16/28	-	2
2-169826185-C-T	c.1810-124G>A	-	IntronicSNV	-	15/27	1
2-169826555-C-G	c.1809G>C	p.K603N	Missense	15/28	-	1
2-169826564-C-A	c.1800G>T	p.V600=	Synonymous	15/28	-	1
2-169826564-C-G	c.1800G>C	p.V600=	Synonymous	15/28	-	1
2-169826564-C-T	c.1800G>A	p.V600=	Synonymous	15/28	-	1
2-169826565-A-T	c.1799T>A	p.V600E	Missense	15/28	-	1
2-169826569-C-T	c.1795G>A	p.E599K	Missense	15/28	-	1
2-169826570-T-G	c.1794A>C	p.Q598H	Missense	15/28	-	1
2-169826572-G-A	c.1792C>T	p.Q598*	Nonsense	15/28	-	1
2-169826572-G-T	c.1792C>A	p.Q598K	Missense	15/28	-	2
2-169826573-C-A	c.1791G>T	p.V597=	Synonymous	15/28	-	1
2-169826575-C-A	c.1789G>T	p.V597L	Missense	15/28	-	1
2-169826575-C-G	c.1789G>C	p.V597L	Missense	15/28	-	2
2-169826575-C-T	c.1789G>A	p.V597M	Missense	15/28	-	3
2-169826579-G-A	c.1785C>T	p.A595=	Synonymous	15/28	-	1
2-169826581-C-A	c.1783G>T	p.A595S	Missense	15/28	-	6
2-169826582-T-C	c.1782A>G	p.E594=	Synonymous	15/28	-	1
2-169826585-A-T	c.1779T>A	p.S593R	Missense	15/28	-	1
2-169826590-C-G	c.1774G>C	p.E592Q	Missense	15/28	-	4
2-169826592-T-C	c.1772A>G	p.N591S	Missense	15/28	-	20
2-169826594-G-T	c.1770C>A	p.D590E	Missense	15/28	-	1
2-169826595-T-C	c.1769A>G	p.D590G	Missense	15/28	-	1
2-169826595-T-G	c.1769A>C	p.D590A	Missense	15/28	-	1
2-169826596-C-T	c.1768G>A	p.D590N	Missense	15/28	-	3
2-169826598-A-G	c.1766T>C	p.L589P	Missense	15/28	-	1
2-169826599-G-T	c.1765C>A	p.L589M	Missense	15/28	-	2
2-169826601-G-A	c.1763C>T	p.A588V	Missense	15/28	-	1
2-169826602-C-G	c.1762G>C	p.A588P	Missense	15/28	-	2
2-169826602-C-T	c.1762G>A	p.A588T	Missense	15/28	-	1
2-169826604-G-C	c.1760C>G	p.S587*	Nonsense	15/28	-	1
2-169826608-T-G	c.1756A>C	p.T586P	Missense	15/28	-	1
2-169826613-AT-TC	c.1750_1751delinsGA	p.M584E	Missense	15/28	-	1
2-169826614-T-C	c.1750A>G	p.M584V	Missense	15/28	-	1
2-169826623-G-C	c.1741C>G	p.L581V	Missense	15/28	-	2
2-169826626-G-T	c.1738C>A	p.L580M	Missense	15/28	-	4
2-169826627-A-G	c.1737T>C	p.I579=	Synonymous	15/28	-	1
2-169826629-T-A	c.1735A>T	p.I579F	Missense	15/28	-	1
2-169826630-C-A	c.1734G>T	p.K578N	Missense	15/28	-	1
2-169826630-C-G	c.1734G>C	p.K578N	Missense	15/28	-	1
2-169826631-T-C	c.1733A>G	p.K578R	Missense	15/28	-	1
2-169826637-T-G	c.1727A>C	p.N576T	Missense	15/28	-	1
2-169826638-T-A	c.1726A>T	p.N576Y	Missense	15/28	-	1
2-169826640-C-T	c.1724G>A	p.R575Q	Missense	15/28	-	6
2-169826641-G-A	c.1723C>T	p.R575*	Nonsense	15/28	-	17
2-169826642-G-A	c.1722C>T	p.I574=	Synonymous	15/28	-	1
2-169826652-C-G	c.1712G>C	p.R571T	Missense	15/28	-	1
2-169826652-C-T	c.1712G>A	p.R571K	Missense	15/28	-	2
2-169826655-G-A	c.1709C>T	p.A570V	Missense	15/28	-	2
2-169826656-C-T	c.1708G>A	p.A570T	Missense	15/28	-	13
2-169826657-G-A	c.1707C>T	p.I569=	Synonymous	15/28	-	3
2-169826657-G-T	c.1707C>A	p.I569=	Synonymous	15/28	-	3
2-169826665-C-T	c.1699G>A	p.V567I	Missense	15/28	-	1
2-169826666-C-A	c.1698G>T	p.R566S	Missense	15/28	-	1
2-169826667-C-T	c.1697G>A	p.R566K	Missense	15/28	-	3
2-169826675-C-A	c.1689G>T	p.Q563H	Missense	15/28	-	1
2-169826675-C-T	c.1689G>A	p.Q563=	Synonymous	15/28	-	1
2-169826677-G-A	c.1687C>T	p.Q563*	Nonsense	15/28	-	6
2-169826679-C-T	c.1685G>A	p.G562D	Missense	15/28	-	7
2-169826680-C-T	c.1684G>A	p.G562S	Missense	15/28	-	1
2-169826683-C-T	c.1681G>A	p.G561S	Missense	15/28	-	2
2-169826688-A-G	c.1676T>C	p.M559T	Missense	15/28	-	1
2-169826688-A-T	c.1676T>A	p.M559K	Missense	15/28	-	1
2-169826690-C-A	c.1674G>T	p.Q558H	Missense	15/28	-	3
2-169826690-C-G	c.1674G>C	p.Q558H	Missense	15/28	-	4
2-169826693-G-A	c.1671C>T	p.G557=	Synonymous	15/28	-	1
2-169826696-TC-GT	c.1667_1668delinsAC	p.G556D	Missense	15/28	-	1
2-169826698-C-G	c.1666G>C	p.G556R	Missense	15/28	-	1
2-169826698-C-T	c.1666G>A	p.G556R	Missense	15/28	-	1
2-169826700-CC-TT	c.1663_1664delinsAA	p.G555K	Missense	15/28	-	1
2-169826700-C-T	c.1664G>A	p.G555E	Missense	15/28	-	2
2-169826704-C-T	c.1660G>A	p.E554K	Missense	15/28	-	1
2-169826706-C-T	c.1658G>A	p.G553E	Missense	15/28	-	2
2-169826714-G-A	c.1650C>T	p.T550=	Synonymous	15/28	-	2
2-169826715-G-A	c.1649C>T	p.T550I	Missense	15/28	-	3
2-169826715-G-T	c.1649C>A	p.T550N	Missense	15/28	-	2
2-169826721-A-C	c.1643T>G	p.F548C	Missense	15/28	-	3
2-169826722-A-G	c.1642T>C	p.F548L	Missense	15/28	-	2
2-169826723-T-C	c.1641A>G	p.Q547=	Synonymous	15/28	-	1
2-169826723-T-G	c.1641A>C	p.Q547H	Missense	15/28	-	1
2-169826877-C-T	c.1639-152G>A	-	IntronicSNV	-	14/27	5
2-169826998-A-G	c.1639-273T>C	-	IntronicSNV	-	14/27	2
2-169827018-C-T	c.1639-293G>A	-	IntronicSNV	-	14/27	2
2-169827074-G-T	c.1639-349C>A	-	IntronicSNV	-	14/27	1
2-169828229-AT-A	c.1638+128del	-	IntronicDeletion	-	14/27	1
2-169828275-G-A	c.1638+82C>T	-	IntronicSNV	-	14/27	2
2-169828275-G-T	c.1638+82C>A	-	IntronicSNV	-	14/27	2
2-169828277-G-A	c.1638+80C>T	-	IntronicSNV	-	14/27	4
2-169828277-G-C	c.1638+80C>G	-	IntronicSNV	-	14/27	2
2-169828325-A-G	c.1638+32T>C	-	IntronicSNV	-	14/27	11
2-169828325-A-T	c.1638+32T>A	-	IntronicSNV	-	14/27	7
2-169828357-C-A	c.1638G>T	p.Q546H	Missense	14/28	-	2
2-169828357-C-G	c.1638G>C	p.Q546H	Missense	14/28	-	1
2-169828358-T-C	c.1637A>G	p.Q546R	Missense	14/28	-	1
2-169828359-G-A	c.1636C>T	p.Q546*	Nonsense	14/28	-	1
2-169828359-G-T	c.1636C>A	p.Q546K	Missense	14/28	-	2
2-169828362-G-A	c.1633C>T	p.P545S	Missense	14/28	-	1
2-169828363-CAG-AAA	c.1630_1632delinsTTT	p.L544F	Missense	14/28	-	1
2-169828364-AG-GC	c.1630_1631delinsGC	p.L544A	Missense	14/28	-	1
2-169828365-G-T	c.1630C>A	p.L544M	Missense	14/28	-	1
2-169828367-T-G	c.1628A>C	p.D543A	Missense	14/28	-	4
2-169828368-C-T	c.1627G>A	p.D543N	Missense	14/28	-	2
2-169828369-C-A	c.1626G>T	p.M542I	Missense	14/28	-	5
2-169828369-C-G	c.1626G>C	p.M542I	Missense	14/28	-	5
2-169828369-C-T	c.1626G>A	p.M542I	Missense	14/28	-	8
2-169828372-G-A	c.1623C>T	p.I541=	Synonymous	14/28	-	4
2-169828372-G-C	c.1623C>G	p.I541M	Missense	14/28	-	1
2-169828372-G-T	c.1623C>A	p.I541=	Synonymous	14/28	-	1
2-169828373-A-G	c.1622T>C	p.I541T	Missense	14/28	-	1
2-169828374-T-C	c.1621A>G	p.I541V	Missense	14/28	-	2
2-169828374-T-G	c.1621A>C	p.I541L	Missense	14/28	-	3
2-169828375-G-A	c.1620C>T	p.F540=	Synonymous	14/28	-	2
2-169828379-T-G	c.1616A>C	p.N539T	Missense	14/28	-	1
2-169828380-T-C	c.1615A>G	p.N539D	Missense	14/28	-	1
2-169828382-T-C	c.1613A>G	p.Y538C	Missense	14/28	-	4
2-169828382-T-G	c.1613A>C	p.Y538S	Missense	14/28	-	1
2-169828384-G-T	c.1611C>A	p.A537=	Synonymous	14/28	-	1
2-169828388-T-C	c.1607A>G	p.N536S	Missense	14/28	-	1
2-169828390-G-A	c.1605C>T	p.A535=	Synonymous	14/28	-	3
2-169828390-G-C	c.1605C>G	p.A535=	Synonymous	14/28	-	1
2-169828390-G-T	c.1605C>A	p.A535=	Synonymous	14/28	-	1
2-169828395-C-G	c.1600G>C	p.E534Q	Missense	14/28	-	1
2-169828395-C-T	c.1600G>A	p.E534K	Missense	14/28	-	1
2-169828401-C-T	c.1594G>A	p.A532T	Missense	14/28	-	1
2-169828407-G-A	c.1588C>T	p.Q530*	Nonsense	14/28	-	4
2-169828410-C-A	c.1585G>T	p.V529F	Missense	14/28	-	1
2-169828410-C-T	c.1585G>A	p.V529I	Missense	14/28	-	1
2-169828411-T-G	c.1584A>C	p.I528=	Synonymous	14/28	-	1
2-169828412-A-G	c.1583T>C	p.I528T	Missense	14/28	-	1
2-169828412-AT-TA	c.1582_1583delinsTA	p.I528*	Nonsense	14/28	-	1
2-169828420-C-A	c.1575G>T	p.M525I	Missense	14/28	-	1
2-169828424-G-A	c.1571C>T	p.T524I	Missense	14/28	-	1
2-169828424-G-T	c.1571C>A	p.T524K	Missense	14/28	-	1
2-169828425-T-A	c.1570A>T	p.T524S	Missense	14/28	-	1
2-169828427-G-C	c.1568C>G	p.A523G	Missense	14/28	-	1
2-169828428-C-A	c.1567G>T	p.A523S	Missense	14/28	-	1
2-169828431-C-A	c.1564G>T	p.D522Y	Missense	14/28	-	1
2-169828431-C-T	c.1564G>A	p.D522N	Missense	14/28	-	1
2-169828436-C-A	c.1559G>T	p.R520I	Missense	14/28	-	1
2-169828437-T-A	c.1558A>T	p.R520*	Nonsense	14/28	-	3
2-169828438-GC-CT	c.1556_1557delinsAG	p.G519E	Missense	14/28	-	1
2-169828439-C-A	c.1556G>T	p.G519V	Missense	14/28	-	1
2-169828443-A-G	c.1552T>C	p.Y518H	Missense	14/28	-	1
2-169828445-C-T	c.1550G>A	p.R517H	Missense	14/28	-	8
2-169828446-G-A	c.1549C>T	p.R517C	Missense	14/28	-	4
2-169828447-A-C	c.1548T>G	p.I516M	Missense	14/28	-	1
2-169828450-A-G	c.1545T>C	p.N515=	Synonymous	14/28	-	1
2-169828451-T-G	c.1544A>C	p.N515T	Missense	14/28	-	1
2-169828452-T-C	c.1543A>G	p.N515D	Missense	14/28	-	1
2-169828457-G-C	c.1538C>G	p.A513G	Missense	14/28	-	1
2-169828460-A-G	c.1535T>C	p.I512T	Missense	14/28	-	1
2-169828461-T-G	c.1534A>C	p.I512L	Missense	14/28	-	1
2-169828465-G-A	c.1530C>T	p.T510=	Synonymous	14/28	-	3
2-169828465-G-C	c.1530C>G	p.T510=	Synonymous	14/28	-	1
2-169828465-G-T	c.1530C>A	p.T510=	Synonymous	14/28	-	1
2-169828469-GAGA-G	c.1523_1525del	p.F508del	InFrameDeletion	14/28	-	2
2-169828475-AG-GA	c.1519_1520delinsTC	p.L507S	Missense	14/28	-	1
2-169828476-G-T	c.1519C>A	p.L507M	Missense	14/28	-	1
2-169828483-C-T	c.1512G>A	p.E504=	Synonymous	14/28	-	1
2-169828485-C-G	c.1510G>C	p.E504Q	Missense	14/28	-	1
2-169828485-C-T	c.1510G>A	p.E504K	Missense	14/28	-	1
2-169828490-T-C	c.1505A>G	p.E502G	Missense	14/28	-	1
2-169828490-TC-GA	c.1504_1505inv	p.E502S	Missense	14/28	-	1
2-169828491-C-G	c.1504G>C	p.E502Q	Missense	14/28	-	2
2-169828493-A-C	c.1502T>G	p.V501G	Missense	14/28	-	1
2-169828498-C-T	c.1497G>A	p.G499=	Synonymous	14/28	-	2
2-169828499-C-T	c.1496G>A	p.G499E	Missense	14/28	-	1
2-169828502-A-G	c.1493T>C	p.I498T	Missense	14/28	-	8
2-169828502-A-T	c.1493T>A	p.I498N	Missense	14/28	-	2
2-169828506-G-A	c.1489C>T	p.Q497*	Nonsense	14/28	-	10
2-169828508-T-A	c.1487A>T	p.D496V	Missense	14/28	-	1
2-169828509-C-A	c.1486G>T	p.D496Y	Missense	14/28	-	1
2-169828510-TCT-ATG	c.1483_1485delinsCAT	p.R495H	Missense	14/28	-	1
2-169828516-C-T	c.1479G>A	p.W493*	Nonsense	14/28	-	4
2-169828517-C-T	c.1478G>A	p.W493*	Nonsense	14/28	-	4
2-169828519-C-A	c.1476G>T	p.Q492H	Missense	14/28	-	1
2-169828519-C-G	c.1476G>C	p.Q492H	Missense	14/28	-	1
2-169828527-T-A	c.1468A>T	p.N490Y	Missense	14/28	-	1
2-169828527-T-C	c.1468A>G	p.N490D	Missense	14/28	-	3
2-169828532-G-A	c.1463C>T	p.S488F	Missense	14/28	-	2
2-169828535-C-G	c.1460G>C	p.R487P	Missense	14/28	-	4
2-169828535-C-T	c.1460G>A	p.R487H	Missense	14/28	-	17
2-169828536-G-A	c.1459C>T	p.R487C	Missense	14/28	-	9
2-169828538-A-G	c.1457T>C	p.I486T	Missense	14/28	-	1
2-169828540-G-A	c.1455C>T	p.D485=	Synonymous	14/28	-	1
2-169828541-T-C	c.1454A>G	p.D485G	Missense	14/28	-	1
2-169828544-TG-T	c.1450del	p.H484Mfs*17	UnclassifiedDeletion	14/28	-	1
2-169828548-C-T	c.1447G>A	p.G483S	Missense	14/28	-	1
2-169828549-A-C	c.1446T>G	p.D482E	Missense	14/28	-	1
2-169828549-A-T	c.1446T>A	p.D482E	Missense	14/28	-	1
2-169828550-T-C	c.1445A>G	p.D482G	Missense	14/28	-	61
2-169828551-C-T	c.1444G>A	p.D482N	Missense	14/28	-	1
2-169828554-C-T	c.1441G>A	p.V481M	Missense	14/28	-	2
2-169828555-G-A	c.1440C>T	p.T480=	Synonymous	14/28	-	1
2-169828555-G-C	c.1440C>G	p.T480=	Synonymous	14/28	-	1
2-169828555-G-T	c.1440C>A	p.T480=	Synonymous	14/28	-	1
2-169828556-G-A	c.1439C>T	p.T480I	Missense	14/28	-	1
2-169828556-G-T	c.1439C>A	p.T480N	Missense	14/28	-	1
2-169828559-A-T	c.1436T>A	p.V479E	Missense	14/28	-	2
2-169828867-C-T	c.1435-307G>A	-	IntronicSNV	-	13/27	2
2-169830051-C-T	c.1434+174G>A	-	IntronicSNV	-	13/27	3
2-169830155-G-A	c.1434+70C>T	-	IntronicSNV	-	13/27	19
2-169830214-A-C	c.1434+11T>G	-	IntronicSNV	-	13/27	1
2-169830229-C-T	c.1430G>A	p.G477E	Missense	13/28	-	5
2-169830231-T-A	c.1428A>T	p.E476D	Missense	13/28	-	1
2-169830237-G-A	c.1422C>T	p.P474=	Synonymous	13/28	-	3
2-169830237-G-C	c.1422C>G	p.P474=	Synonymous	13/28	-	2
2-169830237-G-T	c.1422C>A	p.P474=	Synonymous	13/28	-	3
2-169830238-G-A	c.1421C>T	p.P474L	Missense	13/28	-	1
2-169830238-G-T	c.1421C>A	p.P474H	Missense	13/28	-	1
2-169830240-G-A	c.1419C>T	p.D473=	Synonymous	13/28	-	1
2-169830243-A-C	c.1416T>G	p.Y472*	Nonsense	13/28	-	1
2-169830243-A-G	c.1416T>C	p.Y472=	Synonymous	13/28	-	1
2-169830243-A-T	c.1416T>A	p.Y472*	Nonsense	13/28	-	6
2-169830244-T-C	c.1415A>G	p.Y472C	Missense	13/28	-	4
2-169830246-G-C	c.1413C>G	p.F471L	Missense	13/28	-	1
2-169830250-C-A	c.1409G>T	p.R470L	Missense	13/28	-	1
2-169830250-CG-TT	c.1408_1409delinsAA	p.R470K	Missense	13/28	-	2
2-169830250-C-T	c.1409G>A	p.R470Q	Missense	13/28	-	9
2-169830251-G-A	c.1408C>T	p.R470*	Nonsense	13/28	-	7
2-169830252-GC-G	c.1407del	p.Q469Hfs*11	Frameshift	13/28	-	1
2-169830254-G-A	c.1405C>T	p.Q469*	Nonsense	13/28	-	1
2-169830254-G-T	c.1405C>A	p.Q469K	Missense	13/28	-	1
2-169830257-T-G	c.1402A>C	p.I468L	Missense	13/28	-	1
2-169830263-G-T	c.1396C>A	p.Q466K	Missense	13/28	-	2
2-169830267-T-C	c.1392A>G	p.A464=	Synonymous	13/28	-	1
2-169830271-G-A	c.1388C>T	p.T463I	Missense	13/28	-	5
2-169830275-T-G	c.1384A>C	p.S462R	Missense	13/28	-	1
2-169830276-TT-CA	c.1382_1383delinsTG	p.K461M	Missense	13/28	-	1
2-169830278-T-C	c.1381A>G	p.K461E	Missense	13/28	-	4
2-169830279-T-C	c.1380A>G	p.G460=	Synonymous	13/28	-	1
2-169830279-TC-T	c.1379del	p.G460Efs*20	Frameshift	13/28	-	1
2-169830281-C-T	c.1378G>A	p.G460R	Missense	13/28	-	1
2-169830283-G-A	c.1376C>T	p.A459V	Missense	13/28	-	1
2-169830283-G-C	c.1376C>G	p.A459G	Missense	13/28	-	1
2-169830285-T-A	c.1374A>T	p.G458=	Synonymous	13/28	-	1
2-169830285-T-C	c.1374A>G	p.G458=	Synonymous	13/28	-	1
2-169830285-T-G	c.1374A>C	p.G458=	Synonymous	13/28	-	1
2-169830287-C-G	c.1372G>C	p.G458R	Missense	13/28	-	1
2-169830287-C-T	c.1372G>A	p.G458R	Missense	13/28	-	3
2-169830289-C-T	c.1370G>A	p.S457N	Missense	13/28	-	2
2-169830292-G-T	c.1367C>A	p.P456H	Missense	13/28	-	1
2-169830294-T-A	c.1365A>T	p.G455=	Synonymous	13/28	-	1
2-169830294-T-C	c.1365A>G	p.G455=	Synonymous	13/28	-	2
2-169830294-T-G	c.1365A>C	p.G455=	Synonymous	13/28	-	1
2-169830299-C-A	c.1360G>T	p.V454L	Missense	13/28	-	1
2-169830298-AC-A	c.1360del	p.V454*	Frameshift	13/28	-	1
2-169830305-C-G	c.1354G>C	p.A452P	Missense	13/28	-	1
2-169830309-C-A	c.1350G>T	p.M450I	Missense	13/28	-	1
2-169830314-C-T	c.1345G>A	p.E449K	Missense	13/28	-	1
2-169830315-C-A	c.1344G>T	p.G448=	Synonymous	13/28	-	1
2-169830315-C-G	c.1344G>C	p.G448=	Synonymous	13/28	-	1
2-169830315-C-T	c.1344G>A	p.G448=	Synonymous	13/28	-	1
2-169830316-C-T	c.1343G>A	p.G448E	Missense	13/28	-	2
2-169830317-C-T	c.1342G>A	p.G448R	Missense	13/28	-	1
2-169830320-G-A	c.1339C>T	p.P447S	Missense	13/28	-	1
2-169830328-A-C	c.1331T>G	p.V444G	Missense	13/28	-	34
2-169830328-A-G	c.1331T>C	p.V444A	Missense	13/28	-	113
2-169830328-A-T	c.1331T>A	p.V444D	Missense	13/28	-	34
2-169830335-T-A	c.1324A>T	p.N442Y	Missense	13/28	-	2
2-169830341-C-A	c.1318G>T	p.D440Y	Missense	13/28	-	3
2-169830341-C-T	c.1318G>A	p.D440N	Missense	13/28	-	1
2-169830346-A-T	c.1313T>A	p.L438Q	Missense	13/28	-	1
2-169830347-G-T	c.1312C>A	p.L438I	Missense	13/28	-	1
2-169830443-C-T	c.1309-93G>A	-	IntronicSNV	-	12/27	1
2-169830515-G-A	c.1309-165C>T	-	IntronicSNV	-	12/27	3
2-169832095-A-C	c.1308+992T>G	-	IntronicSNV	-	12/27	1
2-169832752-C-T	c.1308+335G>A	-	IntronicSNV	-	12/27	1
2-169832761-G-C	c.1308+326C>G	-	IntronicSNV	-	12/27	1
2-169832959-G-A	c.1308+128C>T	-	IntronicSNV	-	12/27	1
2-169832965-C-T	c.1308+122G>A	-	IntronicSNV	-	12/27	1
2-169832971-C-T	c.1308+116G>A	-	IntronicSNV	-	12/27	4
2-169833042-G-A	c.1308+45C>T	-	IntronicSNV	-	12/27	1
2-169833042-G-C	c.1308+45C>G	-	IntronicSNV	-	12/27	1
2-169833085-A-T	c.1308+2T>A	-	IntronicSNV	-	12/27	2
2-169833093-C-T	c.1302G>A	p.E434=	Synonymous	12/28	-	2
2-169833095-C-CT	c.1299dup	p.E434Rfs*7	Frameshift	12/28	-	1
2-169833100-C-G	c.1295G>C	p.R432T	Missense	12/28	-	5
2-169833100-C-T	c.1295G>A	p.R432K	Missense	12/28	-	1
2-169833106-G-C	c.1289C>G	p.P430R	Missense	12/28	-	1
2-169833105-A-AG	c.1289dup	p.S431Ffs*10	Frameshift	12/28	-	1
2-169833107-G-A	c.1288C>T	p.P430S	Missense	12/28	-	1
2-169833113-G-A	c.1282C>T	p.H428Y	Missense	12/28	-	4
2-169833114-G-A	c.1281C>T	p.F427=	Synonymous	12/28	-	2
2-169833114-G-C	c.1281C>G	p.F427L	Missense	12/28	-	1
2-169833117-G-C	c.1278C>G	p.T426=	Synonymous	12/28	-	4
2-169833120-C-T	c.1275G>A	p.V425=	Synonymous	12/28	-	1
2-169833124-T-G	c.1271A>C	p.N424T	Missense	12/28	-	4
2-169833123-AT-A	c.1271del	p.N424Mfs*2	Frameshift	12/28	-	1
2-169833127-T-C	c.1268A>G	p.H423R	Missense	12/28	-	2
2-169833136-A-T	c.1259T>A	p.I420N	Missense	12/28	-	1
2-169833147-G-A	c.1248C>T	p.I416=	Synonymous	12/28	-	1
2-169833147-G-T	c.1248C>A	p.I416=	Synonymous	12/28	-	2
2-169833151-C-T	c.1244G>A	p.R415Q	Missense	12/28	-	5
2-169833152-G-A	c.1243C>T	p.R415*	Nonsense	12/28	-	9
2-169833155-C-T	c.1240G>A	p.D414N	Missense	12/28	-	3
2-169833157-A-C	c.1238T>G	p.L413W	Missense	12/28	-	2
2-169833167-C-G	c.1228G>C	p.G410R	Missense	12/28	-	1
2-169833167-C-T	c.1228G>A	p.G410S	Missense	12/28	-	1
2-169833173-C-T	c.1222G>A	p.E408K	Missense	12/28	-	3
2-169833175-G-C	c.1220C>G	p.S407*	Nonsense	12/28	-	1
2-169833175-G-T	c.1220C>A	p.S407*	Nonsense	12/28	-	1
2-169833181-CA-GT	c.1213_1214delinsAC	p.C405T	Missense	12/28	-	1
2-169833181-C-G	c.1214G>C	p.C405S	Missense	12/28	-	1
2-169833182-A-G	c.1213T>C	p.C405R	Missense	12/28	-	1
2-169833182-A-T	c.1213T>A	p.C405S	Missense	12/28	-	1
2-169833184-T-C	c.1211A>G	p.D404G	Missense	12/28	-	2
2-169833188-T-G	c.1207A>C	p.I403L	Missense	12/28	-	1
2-169833192-G-A	c.1203C>T	p.P401=	Synonymous	12/28	-	1
2-169833193-G-T	c.1202C>A	p.P401H	Missense	12/28	-	1
2-169833194-G-A	c.1201C>T	p.P401S	Missense	12/28	-	5
2-169833194-GT-G	c.1200del	p.K400Nfs*26	Frameshift	12/28	-	1
2-169833949-T-C	c.1198-752A>G	-	IntronicSNV	-	11/27	1
2-169834370-G-A	c.1198-1173C>T	-	IntronicSNV	-	11/27	4
2-169836182-CAAAAAAAAAAA-C	c.1197+183_1197+193del	-	IntronicDeletion	-	11/27	1
2-169836326-AC-A	c.1197+49del	-	IntronicDeletion	-	11/27	1
2-169836343-T-A	c.1197+33A>T	-	IntronicSNV	-	11/27	1
2-169836375-C-A	c.1197+1G>T	-	IntronicSNV	-	11/27	3
2-169836376-CCT-ATG	c.1195_1197delinsCAT	p.R399H	Missense	11/28	-	1
2-169836378-T-A	c.1195A>T	p.R399W	Missense	11/28	-	1
2-169836382-T-C	c.1191A>G	p.I397M	Missense	11/28	-	1
2-169836384-T-C	c.1189A>G	p.I397V	Missense	11/28	-	2
2-169836385-T-A	c.1188A>T	p.T396=	Synonymous	11/28	-	1
2-169836385-T-C	c.1188A>G	p.T396=	Synonymous	11/28	-	1
2-169836385-T-G	c.1188A>C	p.T396=	Synonymous	11/28	-	1
2-169836386-G-A	c.1187C>T	p.T396I	Missense	11/28	-	1
2-169836398-CT-AA	c.1174_1175delinsTT	p.S392F	Missense	11/28	-	1
2-169836404-G-A	c.1169C>T	p.A390V	Missense	11/28	-	1
2-169836405-C-A	c.1168G>T	p.A390S	Missense	11/28	-	1
2-169836405-C-G	c.1168G>C	p.A390P	Missense	11/28	-	1
2-169836408-C-G	c.1165G>C	p.A389P	Missense	11/28	-	1
2-169836406-TGCTGCACGTCCAGTTGCAAAG-T	c.1146_1166del	p.F383_A389del	InFrameDeletion	11/28	-	1
2-169836410-G-C	c.1163C>G	p.A388G	Missense	11/28	-	1
2-169836413-C-T	c.1160G>A	p.R387H	Missense	11/28	-	2
2-169836414-G-A	c.1159C>T	p.R387C	Missense	11/28	-	6
2-169836414-G-C	c.1159C>G	p.R387G	Missense	11/28	-	1
2-169836414-G-T	c.1159C>A	p.R387S	Missense	11/28	-	1
2-169836415-T-A	c.1158A>T	p.G386=	Synonymous	11/28	-	1
2-169836415-T-C	c.1158A>G	p.G386=	Synonymous	11/28	-	1
2-169836415-T-G	c.1158A>C	p.G386=	Synonymous	11/28	-	1
2-169836417-C-A	c.1156G>T	p.G386*	Nonsense	11/28	-	2
2-169836417-C-G	c.1156G>C	p.G386R	Missense	11/28	-	1
2-169836417-C-T	c.1156G>A	p.G386R	Missense	11/28	-	1
2-169836418-AG-CA	c.1154_1155delinsTG	p.T385M	Missense	11/28	-	1
2-169836420-T-C	c.1153A>G	p.T385A	Missense	11/28	-	1
2-169836423-C-G	c.1150G>C	p.A384P	Missense	11/28	-	1
2-169836425-A-G	c.1148T>C	p.F383S	Missense	11/28	-	1
2-169836423-C-CA	c.1149dup	p.A384Cfs*12	Frameshift	11/28	-	1
2-169836427-G-A	c.1146C>T	p.A382=	Synonymous	11/28	-	1
2-169836431-T-C	c.1142A>G	p.E381G	Missense	11/28	-	1
2-169836433-C-T	c.1140G>A	p.L380=	Synonymous	11/28	-	1
2-169836440-G-A	c.1133C>T	p.P378L	Missense	11/28	-	2
2-169836441-G-C	c.1132C>G	p.P378A	Missense	11/28	-	1
2-169836443-GA-TT	c.1129_1130delinsAA	p.S377N	Missense	11/28	-	1
2-169836443-G-C	c.1130C>G	p.S377C	Missense	11/28	-	1
2-169836443-G-T	c.1130C>A	p.S377Y	Missense	11/28	-	1
2-169836446-G-C	c.1127C>G	p.A376G	Missense	11/28	-	3
2-169836446-G-T	c.1127C>A	p.A376D	Missense	11/28	-	2
2-169836447-C-A	c.1126G>T	p.A376S	Missense	11/28	-	1
2-169836449-T-C	c.1124A>G	p.N375S	Missense	11/28	-	4
2-169836451-G-A	c.1122C>T	p.G374=	Synonymous	11/28	-	1
2-169836456-G-T	c.1117C>A	p.L373I	Missense	11/28	-	1
2-169836459-T-G	c.1114A>C	p.N372H	Missense	11/28	-	2
2-169836465-C-G	c.1108G>C	p.A370P	Missense	11/28	-	1
2-169836472-T-A	c.1101A>T	p.I367=	Synonymous	11/28	-	2
2-169836472-T-G	c.1101A>C	p.I367=	Synonymous	11/28	-	2
2-169836475-G-A	c.1098C>T	p.V366=	Synonymous	11/28	-	1
2-169836479-C-T	c.1094G>A	p.S365N	Missense	11/28	-	2
2-169836479-CT-GC	c.1093_1094delinsGC	p.S365A	Missense	11/28	-	1
2-169836484-G-A	c.1089C>T	p.F363=	Synonymous	11/28	-	5
2-169836489-T-C	c.1084A>G	p.I362V	Missense	11/28	-	1
2-169836698-T-C	c.1084-209A>G	-	IntronicSNV	-	10/27	3
2-169836698-T-G	c.1084-209A>C	-	IntronicSNV	-	10/27	3
2-169836730-T-C	c.1084-241A>G	-	IntronicSNV	-	10/27	1
2-169838040-T-A	c.1084-1551A>T	-	IntronicSNV	-	10/27	1
2-169840142-A-T	c.1083+2478T>A	-	IntronicSNV	-	10/27	1
2-169840574-T-A	c.1083+2046A>T	-	IntronicSNV	-	10/27	4
2-169840574-T-G	c.1083+2046A>C	-	IntronicSNV	-	10/27	4
2-169842098-A-G	c.1083+522T>C	-	IntronicSNV	-	10/27	1
2-169842338-G-C	c.1083+282C>G	-	IntronicSNV	-	10/27	1
2-169842571-TGA-T	c.1083+47_1083+48del	-	IntronicDeletion	-	10/27	1
2-169842622-G-A	c.1081C>T	p.Q361*	Nonsense	10/28	-	3
2-169842623-G-A	c.1080C>T	p.V360=	Synonymous	10/28	-	1
2-169842623-G-C	c.1080C>G	p.V360=	Synonymous	10/28	-	1
2-169842623-G-T	c.1080C>A	p.V360=	Synonymous	10/28	-	1
2-169842626-A-C	c.1077T>G	p.L359=	Synonymous	10/28	-	1
2-169842626-A-G	c.1077T>C	p.L359=	Synonymous	10/28	-	1
2-169842626-A-T	c.1077T>A	p.L359=	Synonymous	10/28	-	1
2-169842627-A-G	c.1076T>C	p.L359P	Missense	10/28	-	1
2-169842630-G-A	c.1073C>T	p.T358I	Missense	10/28	-	5
2-169842633-C-G	c.1070G>C	p.G357A	Missense	10/28	-	1
2-169842633-C-T	c.1070G>A	p.G357E	Missense	10/28	-	2
2-169842636-G-A	c.1067C>T	p.P356L	Missense	10/28	-	2
2-169842636-G-T	c.1067C>A	p.P356Q	Missense	10/28	-	1
2-169842637-G-A	c.1066C>T	p.P356S	Missense	10/28	-	2
2-169842641-A-C	c.1062T>G	p.Y354*	Nonsense	10/28	-	2
2-169842641-A-T	c.1062T>A	p.Y354*	Nonsense	10/28	-	4
2-169842646-C-A	c.1057G>T	p.E353*	Nonsense	10/28	-	2
2-169842648-C-T	c.1055G>A	p.G352E	Missense	10/28	-	3
2-169842652-C-T	c.1051G>A	p.E351K	Missense	10/28	-	1
2-169842655-C-G	c.1048G>C	p.D350H	Missense	10/28	-	1
2-169842665-T-A	c.1038A>T	p.T346=	Synonymous	10/28	-	1
2-169842665-T-C	c.1038A>G	p.T346=	Synonymous	10/28	-	1
2-169842665-T-G	c.1038A>C	p.T346=	Synonymous	10/28	-	1
2-169842669-G-A	c.1034C>T	p.S345F	Missense	10/28	-	1
2-169842672-C-T	c.1031G>A	p.G344D	Missense	10/28	-	2
2-169842673-C-A	c.1030G>T	p.G344C	Missense	10/28	-	2
2-169842673-C-G	c.1030G>C	p.G344R	Missense	10/28	-	1
2-169842673-C-T	c.1030G>A	p.G344S	Missense	10/28	-	9
2-169842674-G-A	c.1029C>T	p.Y343=	Synonymous	10/28	-	1
2-169842675-T-A	c.1028A>T	p.Y343F	Missense	10/28	-	1
2-169842676-A-G	c.1027T>C	p.Y343H	Missense	10/28	-	2
2-169842690-G-A	c.1013C>T	p.A338V	Missense	10/28	-	1
2-169842694-A-G	c.1009T>C	p.Y337H	Missense	10/28	-	1
2-169842696-C-G	c.1007G>C	p.C336S	Missense	10/28	-	4
2-169842697-A-T	c.1006T>A	p.C336S	Missense	10/28	-	5
2-169842694-AAC-A	c.1007_1008del	p.C336Lfs*15	Frameshift	10/28	-	1
2-169842698-CAA-GAT	c.1003_1005delinsATC	p.L335I	Missense	10/28	-	1
2-169842701-A-G	c.1002T>C	p.F334=	Synonymous	10/28	-	1
2-169842701-A-C	c.1002T>G	p.F334L	Missense	10/28	-	1
2-169842701-A-T	c.1002T>A	p.F334L	Missense	10/28	-	1
2-169842703-A-G	c.1000T>C	p.F334L	Missense	10/28	-	1
2-169842704-G-A	c.999C>T	p.I333=	Synonymous	10/28	-	2
2-169842704-G-T	c.999C>A	p.I333=	Synonymous	10/28	-	2
2-169842705-A-G	c.998T>C	p.I333T	Missense	10/28	-	1
2-169842706-T-A	c.997A>T	p.I333F	Missense	10/28	-	1
2-169842707-G-A	c.996C>T	p.L332=	Synonymous	10/28	-	1
2-169842707-G-C	c.996C>G	p.L332=	Synonymous	10/28	-	1
2-169842707-G-T	c.996C>A	p.L332=	Synonymous	10/28	-	1
2-169842708-A-C	c.995T>G	p.L332R	Missense	10/28	-	1
2-169842711-C-A	c.992G>T	p.C331F	Missense	10/28	-	1
2-169842711-C-G	c.992G>C	p.C331S	Missense	10/28	-	1
2-169842713-C-T	c.990G>A	p.W330*	Nonsense	10/28	-	1
2-169842714-C-T	c.989G>A	p.W330*	Nonsense	10/28	-	3
2-169842718-C-T	c.985G>A	p.V329M	Missense	10/28	-	1
2-169842719-G-A	c.984C>T	p.F328=	Synonymous	10/28	-	9
2-169842720-A-G	c.983T>C	p.F328S	Missense	10/28	-	1
2-169842723-C-A	c.980G>T	p.G327V	Missense	10/28	-	1
2-169842723-C-G	c.980G>C	p.G327A	Missense	10/28	-	1
2-169842725-A-C	c.978T>G	p.T326=	Synonymous	10/28	-	1
2-169842725-A-G	c.978T>C	p.T326=	Synonymous	10/28	-	1
2-169842725-A-T	c.978T>A	p.T326=	Synonymous	10/28	-	1
2-169842730-A-G	c.973T>C	p.F325L	Missense	10/28	-	1
2-169842731-G-C	c.972C>G	p.F324L	Missense	10/28	-	3
2-169842731-G-T	c.972C>A	p.F324L	Missense	10/28	-	3
2-169842733-A-G	c.970T>C	p.F324L	Missense	10/28	-	3
2-169842736-C-T	c.967G>A	p.G323R	Missense	10/28	-	1
2-169842743-T-C	c.960A>G	p.I320M	Missense	10/28	-	1
2-169842746-T-A	c.957A>T	p.G319=	Synonymous	10/28	-	11
2-169842746-T-C	c.957A>G	p.G319=	Synonymous	10/28	-	11
2-169842746-T-G	c.957A>C	p.G319=	Synonymous	10/28	-	1
2-169842747-C-T	c.956G>A	p.G319E	Missense	10/28	-	2
2-169842749-T-C	c.954A>G	p.K318=	Synonymous	10/28	-	1
2-169842751-T-C	c.952A>G	p.K318E	Missense	10/28	-	4
2-169842753-C-G	c.950G>C	p.R317T	Missense	10/28	-	2
2-169842753-C-T	c.950G>A	p.R317K	Missense	10/28	-	1
2-169842754-T-C	c.949A>G	p.R317G	Missense	10/28	-	1
2-169842755-A-G	c.948T>C	p.I316=	Synonymous	10/28	-	1
2-169842755-A-T	c.948T>A	p.I316=	Synonymous	10/28	-	1
2-169842757-T-A	c.946A>T	p.I316F	Missense	10/28	-	1
2-169842759-C-A	c.944G>T	p.G315V	Missense	10/28	-	1
2-169842760-C-T	c.943G>A	p.G315R	Missense	10/28	-	2
2-169842764-A-C	c.939T>G	p.R313=	Synonymous	10/28	-	1
2-169842764-A-G	c.939T>C	p.R313=	Synonymous	10/28	-	2
2-169842764-A-T	c.939T>A	p.R313=	Synonymous	10/28	-	1
2-169842765-C-T	c.938G>A	p.R313H	Missense	10/28	-	5
2-169842766-G-A	c.937C>T	p.R313C	Missense	10/28	-	1
2-169842766-G-T	c.937C>A	p.R313S	Missense	10/28	-	3
2-169842767-C-A	c.936G>T	p.Q312H	Missense	10/28	-	2
2-169842767-C-G	c.936G>C	p.Q312H	Missense	10/28	-	1
2-169842767-C-T	c.936G>A	p.Q312=	Synonymous	10/28	-	5
2-169842769-G-A	c.934C>T	p.Q312*	Nonsense	10/28	-	1
2-169842771-G-A	c.932C>T	p.A311V	Missense	10/28	-	1
2-169842771-G-C	c.932C>G	p.A311G	Missense	10/28	-	1
2-169842772-C-A	c.931G>T	p.A311S	Missense	10/28	-	2
2-169842772-C-T	c.931G>A	p.A311T	Missense	10/28	-	3
2-169842773-G-A	c.930C>T	p.F310=	Synonymous	10/28	-	3
2-169842773-G-C	c.930C>G	p.F310L	Missense	10/28	-	1
2-169842773-G-T	c.930C>A	p.F310L	Missense	10/28	-	1
2-169842775-A-G	c.928T>C	p.F310L	Missense	10/28	-	1
2-169842780-AG-GC	c.922_923delinsGC	p.L308A	Missense	10/28	-	1
2-169842781-G-A	c.922C>T	p.L308F	Missense	10/28	-	2
2-169842781-G-C	c.922C>G	p.L308V	Missense	10/28	-	1
2-169842783-T-C	c.920A>G	p.N307S	Missense	10/28	-	1
2-169842787-T-C	c.916A>G	p.K306E	Missense	10/28	-	2
2-169842790-C-T	c.913G>A	p.E305K	Missense	10/28	-	1
2-169842791-A-C	c.912T>G	p.Y304*	Nonsense	10/28	-	2
2-169842791-A-T	c.912T>A	p.Y304*	Nonsense	10/28	-	1
2-169842794-C-A	c.909G>T	p.R303S	Missense	10/28	-	1
2-169842794-C-G	c.909G>C	p.R303S	Missense	10/28	-	1
2-169842809-T-C	c.909-15A>G	-	IntronicSNV	-	9/27	11
2-169842863-G-A	c.909-69C>T	-	IntronicSNV	-	9/27	1
2-169844609-C-A	c.909-1815G>T	-	IntronicSNV	-	9/27	1
2-169847203-T-C	c.908+108A>G	-	IntronicSNV	-	9/27	2
2-169847306-C-T	c.908+5G>A	-	IntronicSNV	-	9/27	1
2-169847310-C-A	c.908+1G>T	-	IntronicSNV	-	9/27	3
2-169847310-C-G	c.908+1G>C	-	IntronicSNV	-	9/27	1
2-169847310-C-T	c.908+1G>A	-	IntronicSNV	-	9/27	6
2-169847309-AC-A	c.908+1del	-	IntronicDeletion	9/28	-	1
2-169847311-C-T	c.908G>A	p.R303K	Missense	9/28	-	2
2-169847316-AAC-CAT	c.901_903delinsATG	p.V301M	Missense	9/28	-	1
2-169847316-A-C	c.903T>G	p.V301=	Synonymous	9/28	-	1
2-169847316-A-G	c.903T>C	p.V301=	Synonymous	9/28	-	1
2-169847316-A-T	c.903T>A	p.V301=	Synonymous	9/28	-	1
2-169847317-A-G	c.902T>C	p.V301A	Missense	9/28	-	1
2-169847318-C-A	c.901G>T	p.V301F	Missense	9/28	-	3
2-169847321-C-A	c.898G>T	p.E300*	Nonsense	9/28	-	3
2-169847321-C-T	c.898G>A	p.E300K	Missense	9/28	-	3
2-169847323-C-A	c.896G>T	p.R299I	Missense	9/28	-	6
2-169847323-C-T	c.896G>A	p.R299K	Missense	9/28	-	14
2-169847323-C-CT	c.895dup	p.R299Kfs*4	Frameshift	9/28	-	1
2-169847327-T-C	c.892A>G	p.K298E	Missense	9/28	-	1
2-169847327-T-TA	c.891_892insT	p.K298*	Nonsense	9/28	-	1
2-169847329-T-C	c.890A>G	p.E297G	Missense	9/28	-	63
2-169847330-C-T	c.889G>A	p.E297K	Missense	9/28	-	2
2-169847341-G-C	c.878C>G	p.A293G	Missense	9/28	-	1
2-169847342-C-T	c.877G>A	p.A293T	Missense	9/28	-	1
2-169847343-A-C	c.876T>G	p.A292=	Synonymous	9/28	-	1
2-169847343-A-G	c.876T>C	p.A292=	Synonymous	9/28	-	1
2-169847343-A-T	c.876T>A	p.A292=	Synonymous	9/28	-	1
2-169847347-A-G	c.872T>C	p.V291A	Missense	9/28	-	2
2-169847348-C-T	c.871G>A	p.V291M	Missense	9/28	-	1
2-169847349-T-C	c.870A>G	p.T290=	Synonymous	9/28	-	1
2-169847357-T-C	c.862A>G	p.M288V	Missense	9/28	-	1
2-169847359-G-A	c.860C>T	p.S287L	Missense	9/28	-	4
2-169847359-G-C	c.860C>G	p.S287*	Nonsense	9/28	-	1
2-169847359-G-T	c.860C>A	p.S287*	Nonsense	9/28	-	1
2-169847362-G-A	c.857C>T	p.S286L	Missense	9/28	-	3
2-169847365-A-G	c.854T>C	p.I285T	Missense	9/28	-	1
2-169847366-T-G	c.853A>C	p.I285L	Missense	9/28	-	1
2-169847368-A-G	c.851T>C	p.V284A	Missense	9/28	-	9
2-169847369-C-G	c.850G>C	p.V284L	Missense	9/28	-	6
2-169847370-T-A	c.849A>T	p.E283D	Missense	9/28	-	1
2-169847370-T-G	c.849A>C	p.E283D	Missense	9/28	-	2
2-169847372-C-T	c.847G>A	p.E283K	Missense	9/28	-	1
2-169847373-A-C	c.846T>G	p.D282E	Missense	9/28	-	1
2-169847373-A-T	c.846T>A	p.D282E	Missense	9/28	-	1
2-169847374-T-C	c.845A>G	p.D282G	Missense	9/28	-	1
2-169847375-C-T	c.844G>A	p.D282N	Missense	9/28	-	1
2-169847377-G-A	c.842C>T	p.A281V	Missense	9/28	-	2
2-169847378-C-A	c.841G>T	p.A281S	Missense	9/28	-	1
2-169847382-C-A	c.837G>T	p.V279=	Synonymous	9/28	-	1
2-169847382-C-G	c.837G>C	p.V279=	Synonymous	9/28	-	1
2-169847382-C-T	c.837G>A	p.V279=	Synonymous	9/28	-	2
2-169847386-C-G	c.833G>C	p.G278A	Missense	9/28	-	1
2-169847387-C-A	c.832G>T	p.G278W	Missense	9/28	-	1
2-169847387-C-G	c.832G>C	p.G278R	Missense	9/28	-	1
2-169847387-C-T	c.832G>A	p.G278R	Missense	9/28	-	1
2-169847389-G-T	c.830C>A	p.A277E	Missense	9/28	-	1
2-169847398-T-C	c.821A>G	p.Y274C	Missense	9/28	-	1
2-169847402-C-A	c.817G>T	p.A273S	Missense	9/28	-	4
2-169847401-GC-G	c.817del	p.A273Pfs*16	Frameshift	9/28	-	1
2-169847403-C-A	c.816G>T	p.K272N	Missense	9/28	-	1
2-169847403-C-G	c.816G>C	p.K272N	Missense	9/28	-	1
2-169847412-A-G	c.807T>C	p.Y269=	Synonymous	9/28	-	22
2-169847413-T-C	c.806A>G	p.Y269C	Missense	9/28	-	1
2-169847417-C-A	c.802G>T	p.D268Y	Missense	9/28	-	1
2-169847419-G-A	c.800C>T	p.T267M	Missense	9/28	-	2
2-169847426-T-A	c.793A>T	p.K265*	Nonsense	9/28	-	1
2-169847428-G-A	c.791C>T	p.S264F	Missense	9/28	-	1
2-169847428-G-C	c.791C>G	p.S264C	Missense	9/28	-	1
2-169847522-A-T	c.784-87T>A	-	IntronicSNV	-	8/27	3
2-169847544-T-G	c.784-109A>C	-	IntronicSNV	-	8/27	1
2-169850056-C-T	c.783+165G>A	-	IntronicSNV	-	8/27	2
2-169850076-C-A	c.783+145G>T	-	IntronicSNV	-	8/27	1
2-169850076-C-G	c.783+145G>C	-	IntronicSNV	-	8/27	1
2-169850220-C-A	c.783+1G>T	-	IntronicSNV	-	8/27	1
2-169850225-C-T	c.779G>A	p.G260D	Missense	8/28	-	2
2-169850228-A-C	c.776T>G	p.I259S	Missense	8/28	-	1
2-169850230-G-A	c.774C>T	p.T258=	Synonymous	8/28	-	2
2-169850232-T-C	c.772A>G	p.T258A	Missense	8/28	-	1
2-169850234-G-A	c.770C>T	p.A257V	Missense	8/28	-	4
2-169850240-C-T	c.764G>A	p.G255E	Missense	8/28	-	3
2-169850245-C-T	c.759G>A	p.G253=	Synonymous	8/28	-	1
2-169850246-C-A	c.758G>T	p.G253V	Missense	8/28	-	3
2-169850246-C-T	c.758G>A	p.G253E	Missense	8/28	-	3
2-169850244-TC-T	c.759del	p.I254Lfs*8	Frameshift	8/28	-	1
2-169850250-T-C	c.754A>G	p.I252V	Missense	8/28	-	1
2-169850253-G-A	c.751C>T	p.L251F	Missense	8/28	-	4
2-169850255-G-C	c.749C>G	p.P250R	Missense	8/28	-	3
2-169850255-G-T	c.749C>A	p.P250H	Missense	8/28	-	1
2-169850256-G-A	c.748C>T	p.P250S	Missense	8/28	-	1
2-169850256-G-T	c.748C>A	p.P250T	Missense	8/28	-	1
2-169850258-C-T	c.746G>A	p.S249N	Missense	8/28	-	2
2-169850260-G-C	c.744C>G	p.V248=	Synonymous	8/28	-	1
2-169850264-G-A	c.740C>T	p.S247F	Missense	8/28	-	6
2-169850264-G-T	c.740C>A	p.S247Y	Missense	8/28	-	2
2-169850266-A-T	c.738T>A	p.I246=	Synonymous	8/28	-	1
2-169850272-A-AT	c.731_732insA	p.I245Yfs*26	Frameshift	8/28	-	1
2-169850275-C-T	c.729G>A	p.L243=	Synonymous	8/28	-	1
2-169850278-G-A	c.726C>T	p.T242=	Synonymous	8/28	-	1
2-169850278-G-C	c.726C>G	p.T242=	Synonymous	8/28	-	1
2-169850278-G-T	c.726C>A	p.T242=	Synonymous	8/28	-	1
2-169850286-T-C	c.718A>G	p.K240E	Missense	8/28	-	1
2-169850287-C-G	c.717G>C	p.W239C	Missense	8/28	-	1
2-169850287-C-T	c.717G>A	p.W239*	Nonsense	8/28	-	1
2-169850288-C-T	c.716G>A	p.W239*	Nonsense	8/28	-	1
2-169850291-C-A	c.713G>T	p.G238V	Missense	8/28	-	16
2-169850291-C-G	c.713G>C	p.G238A	Missense	8/28	-	3
2-169850293-C-G	c.711G>C	p.R237S	Missense	8/28	-	1
2-169850296-G-A	c.708C>T	p.F236=	Synonymous	8/28	-	2
2-169850297-A-G	c.707T>C	p.F236S	Missense	8/28	-	1
2-169850299-A-G	c.705T>C	p.F235=	Synonymous	8/28	-	1
2-169850303-C-T	c.701G>A	p.G234E	Missense	8/28	-	6
2-169850304-C-T	c.700G>A	p.G234R	Missense	8/28	-	3
2-169850306-A-G	c.698T>C	p.L233S	Missense	8/28	-	2
2-169850308-C-A	c.696G>T	p.L232=	Synonymous	8/28	-	2
2-169850308-C-G	c.696G>C	p.L232=	Synonymous	8/28	-	1
2-169850308-C-T	c.696G>A	p.L232=	Synonymous	8/28	-	2
2-169850310-G-A	c.694C>T	p.L232=	Synonymous	8/28	-	1
2-169850311-G-A	c.693C>T	p.F231=	Synonymous	8/28	-	2
2-169850324-G-A	c.680C>T	p.T227I	Missense	8/28	-	3
2-169850327-G-A	c.677C>T	p.S226L	Missense	8/28	-	5
2-169850327-G-T	c.677C>A	p.S226*	Nonsense	8/28	-	3
2-169850331-T-C	c.673A>G	p.T225A	Missense	8/28	-	2
2-169850332-C-A	c.672G>T	p.M224I	Missense	8/28	-	1
2-169850332-C-G	c.672G>C	p.M224I	Missense	8/28	-	1
2-169850332-C-T	c.672G>A	p.M224I	Missense	8/28	-	4
2-169850336-C-G	c.668G>C	p.R223P	Missense	8/28	-	1
2-169850336-C-T	c.668G>A	p.R223H	Missense	8/28	-	2
2-169850337-G-A	c.667C>T	p.R223C	Missense	8/28	-	8
2-169850344-G-A	c.660C>T	p.F220=	Synonymous	8/28	-	1
2-169850346-A-G	c.658T>C	p.F220L	Missense	8/28	-	1
2-169850349-G-A	c.655C>T	p.L219F	Missense	8/28	-	2
2-169850349-G-C	c.655C>G	p.L219V	Missense	8/28	-	1
2-169850351-G-A	c.653C>T	p.A218V	Missense	8/28	-	1
2-169850352-C-T	c.652G>A	p.A218T	Missense	8/28	-	1
2-169850353-C-T	c.651G>A	p.M217I	Missense	8/28	-	2
2-169850354-A-C	c.650T>G	p.M217R	Missense	8/28	-	1
2-169850355-T-C	c.649A>G	p.M217V	Missense	8/28	-	2
2-169850358-G-A	c.646C>T	p.Q216*	Nonsense	8/28	-	4
2-169850358-G-T	c.646C>A	p.Q216K	Missense	8/28	-	1
2-169850359-G-A	c.645C>T	p.D215=	Synonymous	8/28	-	1
2-169850360-T-A	c.644A>T	p.D215V	Missense	8/28	-	1
2-169850367-T-C	c.637A>G	p.I213V	Missense	8/28	-	1
2-169850370-C-T	c.634G>A	p.A212T	Missense	8/28	-	2
2-169850376-T-A	c.628A>T	p.N210Y	Missense	8/28	-	1
2-169850375-TTGA-T	c.626_628del	p.I209del	InFrameDeletion	8/28	-	1
2-169850377-G-C	c.627C>G	p.I209M	Missense	8/28	-	5
2-169850383-A-G	c.621T>C	p.N207=	Synonymous	8/28	-	2
2-169850384-T-A	c.620A>T	p.N207I	Missense	8/28	-	1
2-169850384-TTAA-T	c.617_619del	p.I206del	InFrameDeletion	8/28	-	1
2-169850388-T-C	c.616A>G	p.I206V	Missense	8/28	-	4
2-169851854-C-T	c.611+5G>A	-	IntronicSNV	-	7/27	1
2-169851855-T-C	c.611+4A>G	-	IntronicSNV	-	7/27	1
2-169851857-A-G	c.611+2T>C	-	IntronicSNV	-	7/27	1
2-169851858-C-T	c.611+1G>A	-	IntronicSNV	-	7/27	2
2-169851862-G-A	c.608C>T	p.S203F	Missense	7/28	-	1
2-169851862-GA-TT	c.607_608delinsAA	p.S203N	Missense	7/28	-	1
2-169851865-A-G	c.605T>C	p.F202S	Missense	7/28	-	1
2-169851866-A-G	c.604T>C	p.F202L	Missense	7/28	-	1
2-169851868-C-G	c.602G>C	p.R201T	Missense	7/28	-	2
2-169851871-G-C	c.599C>G	p.T200R	Missense	7/28	-	1
2-169851872-T-C	c.598A>G	p.T200A	Missense	7/28	-	1
2-169851875-T-A	c.595A>T	p.N199Y	Missense	7/28	-	1
2-169851878-G-A	c.592C>T	p.L198=	Synonymous	7/28	-	1
2-169851880-T-A	c.590A>T	p.E197V	Missense	7/28	-	2
2-169851881-C-T	c.589G>A	p.E197K	Missense	7/28	-	3
2-169851882-CCCCA-C	c.584_587del	p.V195Gfs*3	Frameshift	7/28	-	1
2-169851880-TC-T	c.589del	p.E197Sfs*2	Frameshift	7/28	-	1
2-169851885-C-A	c.585G>T	p.V195=	Synonymous	7/28	-	1
2-169851885-C-G	c.585G>C	p.V195=	Synonymous	7/28	-	1
2-169851885-C-T	c.585G>A	p.V195=	Synonymous	7/28	-	1
2-169851887-C-T	c.583G>A	p.V195M	Missense	7/28	-	1
2-169851889-G-A	c.581C>T	p.S194L	Missense	7/28	-	7
2-169851889-G-C	c.581C>G	p.S194*	Nonsense	7/28	-	2
2-169851889-G-T	c.581C>A	p.S194*	Nonsense	7/28	-	3
2-169851893-T-C	c.577A>G	p.N193D	Missense	7/28	-	1
2-169851895-C-T	c.575G>A	p.C192Y	Missense	7/28	-	1
2-169851897-G-C	c.573C>G	p.D191E	Missense	7/28	-	1
2-169851898-T-G	c.572A>C	p.D191A	Missense	7/28	-	1
2-169851899-C-G	c.571G>C	p.D191H	Missense	7/28	-	1
2-169851902-A-G	c.568T>C	p.F190L	Missense	7/28	-	1
2-169851906-C-A	c.564G>T	p.G188=	Synonymous	7/28	-	2
2-169851906-C-G	c.564G>C	p.G188=	Synonymous	7/28	-	2
2-169851906-C-T	c.564G>A	p.G188=	Synonymous	7/28	-	2
2-169851907-C-T	c.563G>A	p.G188E	Missense	7/28	-	4
2-169851908-C-A	c.562G>T	p.G188W	Missense	7/28	-	2
2-169851913-T-C	c.557A>G	p.E186G	Missense	7/28	-	3
2-169851914-C-A	c.556G>T	p.E186*	Nonsense	7/28	-	1
2-169851914-C-T	c.556G>A	p.E186K	Missense	7/28	-	5
2-169851915-C-A	c.555G>T	p.M185I	Missense	7/28	-	2
2-169851915-C-G	c.555G>C	p.M185I	Missense	7/28	-	2
2-169851915-C-T	c.555G>A	p.M185I	Missense	7/28	-	6
2-169851917-T-A	c.553A>T	p.M185L	Missense	7/28	-	1
2-169851917-T-G	c.553A>C	p.M185L	Missense	7/28	-	1
2-169851918-T-G	c.552A>C	p.R184S	Missense	7/28	-	1
2-169851919-CT-TG	c.550_551delinsCA	p.R184Q	Missense	7/28	-	1
2-169851920-T-A	c.550A>T	p.R184*	Nonsense	7/28	-	1
2-169851921-C-A	c.549G>T	p.M183I	Missense	7/28	-	1
2-169851921-C-G	c.549G>C	p.M183I	Missense	7/28	-	2
2-169851921-C-T	c.549G>A	p.M183I	Missense	7/28	-	2
2-169851922-A-G	c.548T>C	p.M183T	Missense	7/28	-	2
2-169851923-T-C	c.547A>G	p.M183V	Missense	7/28	-	2
2-169851922-ATTATTC-A	c.542_547del	p.R181_I182del	InFrameDeletion	7/28	-	1
2-169851928-C-A	c.542G>T	p.R181I	Missense	7/28	-	1
2-169851928-C-G	c.542G>C	p.R181T	Missense	7/28	-	1
2-169851938-A-C	c.532T>G	p.Y178D	Missense	7/28	-	1
2-169851941-A-C	c.529T>G	p.F177V	Missense	7/28	-	1
2-169851943-T-G	c.527A>C	p.K176T	Missense	7/28	-	1
2-169851945-T-G	c.525A>C	p.R175S	Missense	7/28	-	1
2-169851947-T-C	c.523A>G	p.R175G	Missense	7/28	-	1
2-169851948-C-T	c.522G>A	p.M174I	Missense	7/28	-	1
2-169851949-AT-TC	c.520_521delinsGA	p.M174E	Missense	7/28	-	1
2-169851951-T-C	c.519A>G	p.K173=	Synonymous	7/28	-	1
2-169851953-T-G	c.517A>C	p.K173Q	Missense	7/28	-	1
2-169851954-C-A	c.516G>T	p.Q172H	Missense	7/28	-	1
2-169851958-A-G	c.512T>C	p.I171T	Missense	7/28	-	1
2-169851960-C-A	c.510G>T	p.Q170H	Missense	7/28	-	1
2-169851961-T-C	c.509A>G	p.Q170R	Missense	7/28	-	1
2-169851962-G-C	c.508C>G	p.Q170E	Missense	7/28	-	3
2-169851964-C-T	c.506G>A	p.R169H	Missense	7/28	-	1
2-169851965-G-A	c.505C>T	p.R169C	Missense	7/28	-	10
2-169851966-A-G	c.504T>C	p.A168=	Synonymous	7/28	-	1
2-169851971-C-T	c.499G>A	p.A167T	Missense	7/28	-	9
2-169851972-G-A	c.498C>T	p.A166=	Synonymous	7/28	-	1
2-169851973-G-A	c.497C>T	p.A166V	Missense	7/28	-	1
2-169851976-A-G	c.494T>C	p.I165T	Missense	7/28	-	1
2-169851980-C-T	c.490G>A	p.V164I	Missense	7/28	-	1
2-169851987-G-C	c.483C>G	p.C161W	Missense	7/28	-	1
2-169851987-G-T	c.483C>A	p.C161*	Nonsense	7/28	-	1
2-169851988-C-A	c.482G>T	p.C161F	Missense	7/28	-	1
2-169851988-CA-GT	c.481_482delinsAC	p.C161T	Missense	7/28	-	1
2-169851993-C-G	c.478-1G>C	-	IntronicSNV	-	6/27	1
2-169853130-G-A	c.477+15C>T	-	IntronicSNV	-	6/27	1
2-169853139-A-C	c.477+6T>G	-	IntronicSNV	-	6/27	1
2-169853139-A-T	c.477+6T>A	-	IntronicSNV	-	6/27	1
2-169853152-T-C	c.470A>G	p.Y157C	Missense	6/28	-	1
2-169853161-A-G	c.461T>C	p.I154T	Missense	6/28	-	1
2-169853163-A-G	c.459T>C	p.L153=	Synonymous	6/28	-	1
2-169853164-A-G	c.458T>C	p.L153P	Missense	6/28	-	1
2-169853171-C-T	c.451G>A	p.A151T	Missense	6/28	-	1
2-169853172-G-A	c.450C>T	p.V150=	Synonymous	6/28	-	2
2-169853172-G-C	c.450C>G	p.V150=	Synonymous	6/28	-	1
2-169853176-G-A	c.446C>T	p.A149V	Missense	6/28	-	1
2-169853178-A-C	c.444T>G	p.I148M	Missense	6/28	-	1
2-169853178-A-G	c.444T>C	p.I148=	Synonymous	6/28	-	1
2-169853178-A-T	c.444T>A	p.I148=	Synonymous	6/28	-	1
2-169853184-A-C	c.438T>G	p.A146=	Synonymous	6/28	-	1
2-169853184-A-G	c.438T>C	p.A146=	Synonymous	6/28	-	1
2-169853184-A-T	c.438T>A	p.A146=	Synonymous	6/28	-	1
2-169853188-T-C	c.434A>G	p.Y145C	Missense	6/28	-	2
2-169853189-A-G	c.433T>C	p.Y145H	Missense	6/28	-	1
2-169853189-A-T	c.433T>A	p.Y145N	Missense	6/28	-	1
2-169853194-CT-GG	c.427_428delinsCC	p.S143P	Missense	6/28	-	1
2-169853195-T-C	c.427A>G	p.S143G	Missense	6/28	-	1
2-169853197-G-A	c.425C>T	p.A142V	Missense	6/28	-	1
2-169853198-C-A	c.424G>T	p.A142S	Missense	6/28	-	1
2-169853202-T-C	c.420A>G	p.K140=	Synonymous	6/28	-	1
2-169853205-G-A	c.417C>T	p.I139=	Synonymous	6/28	-	1
2-169853205-G-T	c.417C>A	p.I139=	Synonymous	6/28	-	1
2-169853208-C-T	c.414G>A	p.M138I	Missense	6/28	-	1
2-169853209-A-G	c.413T>C	p.M138T	Missense	6/28	-	1
2-169853212-T-C	c.410A>G	p.E137G	Missense	6/28	-	1
2-169853213-C-A	c.409G>T	p.E137*	Nonsense	6/28	-	2
2-169853213-C-T	c.409G>A	p.E137K	Missense	6/28	-	6
2-169853214-G-A	c.408C>T	p.S136=	Synonymous	6/28	-	1
2-169853215-CT-AA	c.406_407delinsTT	p.S136F	Missense	6/28	-	1
2-169853219-C-T	c.403G>A	p.E135K	Missense	6/28	-	6
2-169853220-G-A	c.402C>T	p.I134=	Synonymous	6/28	-	4
2-169853222-AT-A	c.400del	p.I134Sfs*5	Frameshift	6/28	-	1
2-169853224-T-A	c.398A>T	p.N133I	Missense	6/28	-	1
2-169853230-A-C	c.392T>G	p.L131W	Missense	6/28	-	1
2-169853231-A-G	c.391T>C	p.L131=	Synonymous	6/28	-	1
2-169853232-C-A	c.390G>T	p.G130=	Synonymous	6/28	-	2
2-169853232-C-G	c.390G>C	p.G130=	Synonymous	6/28	-	1
2-169853232-C-T	c.390G>A	p.G130=	Synonymous	6/28	-	1
2-169856454-A-G	c.390-3222T>C	-	IntronicSNV	-	5/27	2
2-169858061-G-A	c.390-4829C>T	-	IntronicSNV	-	5/27	1
2-169869774-C-T	c.389+8G>A	-	IntronicSNV	-	5/27	3
2-169869781-C-T	c.389+1G>A	-	IntronicSNV	-	5/27	1
2-169869785-C-T	c.386G>A	p.C129Y	Missense	5/28	-	4
2-169869787-ACG-TCA	c.382_384delinsTGA	p.R128*	Nonsense	5/28	-	1
2-169869788-C-G	c.383G>C	p.R128P	Missense	5/28	-	1
2-169869788-CG-AT	c.382_383delinsAT	p.R128I	Missense	5/28	-	1
2-169869788-C-T	c.383G>A	p.R128H	Missense	5/28	-	1
2-169869789-G-A	c.382C>T	p.R128C	Missense	5/28	-	2
2-169869792-T-G	c.379A>C	p.T127P	Missense	5/28	-	1
2-169869791-GT-G	c.379del	p.T127Hfs*6	Frameshift	5/28	-	4
2-169869794-C-A	c.377G>T	p.G126V	Missense	5/28	-	1
2-169869799-T-A	c.372A>T	p.T124=	Synonymous	5/28	-	2
2-169869799-T-C	c.372A>G	p.T124=	Synonymous	5/28	-	3
2-169869799-T-G	c.372A>C	p.T124=	Synonymous	5/28	-	2
2-169869801-T-C	c.370A>G	p.T124A	Missense	5/28	-	2
2-169869803-A-G	c.368T>C	p.M123T	Missense	5/28	-	2
2-169869804-T-A	c.367A>T	p.M123L	Missense	5/28	-	1
2-169869804-T-C	c.367A>G	p.M123V	Missense	5/28	-	1
2-169869807-T-C	c.364A>G	p.N122D	Missense	5/28	-	5
2-169869815-AG-TA	c.355_356delinsTA	p.L119Y	Missense	5/28	-	1
2-169869816-G-A	c.355C>T	p.L119F	Missense	5/28	-	1
2-169869818-GA-AG	c.352_353delinsCT	p.S118L	Missense	5/28	-	1
2-169869824-T-C	c.347A>G	p.N116S	Missense	5/28	-	2
2-169869827-G-A	c.344C>T	p.T115I	Missense	5/28	-	2
2-169869828-T-C	c.343A>G	p.T115A	Missense	5/28	-	1
2-169869829-C-A	c.342G>T	p.W114C	Missense	5/28	-	1
2-169869829-C-G	c.342G>C	p.W114C	Missense	5/28	-	1
2-169869829-C-T	c.342G>A	p.W114*	Nonsense	5/28	-	1
2-169869831-A-C	c.340T>G	p.W114G	Missense	5/28	-	1
2-169869832-TAC-CAT	c.337_339delinsATG	p.V113M	Missense	5/28	-	1
2-169869834-C-T	c.337G>A	p.V113I	Missense	5/28	-	1
2-169869837-T-C	c.334A>G	p.I112V	Missense	5/28	-	1
2-169869852-A-G	c.319T>C	p.C107R	Missense	5/28	-	2
2-169869860-C-T	c.311G>A	p.G104E	Missense	5/28	-	6
2-169869867-T-A	c.304A>T	p.I102F	Missense	5/28	-	1
2-169869872-GA-G	c.299del	p.L100Pfs*9	Frameshift	5/28	-	1
2-169869879-G-A	c.292C>T	p.Q98*	Nonsense	5/28	-	1
2-169869879-G-T	c.292C>A	p.Q98K	Missense	5/28	-	2
2-169869880-T-A	c.291A>T	p.L97F	Missense	5/28	-	1
2-169869881-A-C	c.290T>G	p.L97*	Nonsense	5/28	-	1
2-169869881-A-G	c.290T>C	p.L97S	Missense	5/28	-	1
2-169869883-C-T	c.288G>A	p.E96=	Synonymous	5/28	-	2
2-169869885-C-A	c.286G>T	p.E96*	Nonsense	5/28	-	1
2-169869887-A-C	c.284T>G	p.V95G	Missense	5/28	-	1
2-169869887-A-G	c.284T>C	p.V95A	Missense	5/28	-	1
2-169869888-C-T	c.283G>A	p.V95I	Missense	5/28	-	3
2-169869889-G-A	c.282C>T	p.D94=	Synonymous	5/28	-	1
2-169869891-C-A	c.280G>T	p.D94Y	Missense	5/28	-	3
2-169869891-C-G	c.280G>C	p.D94H	Missense	5/28	-	1
2-169869891-C-T	c.280G>A	p.D94N	Missense	5/28	-	6
2-169869892-G-A	c.279C>T	p.Y93=	Synonymous	5/28	-	1
2-169869892-G-C	c.279C>G	p.Y93*	Nonsense	5/28	-	2
2-169869892-G-T	c.279C>A	p.Y93*	Nonsense	5/28	-	3
2-169869893-T-C	c.278A>G	p.Y93C	Missense	5/28	-	1
2-169869893-T-G	c.278A>C	p.Y93S	Missense	5/28	-	1
2-169869894-A-G	c.277T>C	p.Y93H	Missense	5/28	-	1
2-169869895-G-C	c.276C>G	p.D92E	Missense	5/28	-	1
2-169869895-G-T	c.276C>A	p.D92E	Missense	5/28	-	1
2-169869897-C-A	c.274G>T	p.D92Y	Missense	5/28	-	1
2-169869897-C-T	c.274G>A	p.D92N	Missense	5/28	-	3
2-169869899-AT-GC	c.271_272delinsGC	p.I91A	Missense	5/28	-	1
2-169869899-AT-GG	c.271_272delinsCC	p.I91P	Missense	5/28	-	1
2-169869900-T-C	c.271A>G	p.I91V	Missense	5/28	-	3
2-169869901-A-G	c.270T>C	p.F90=	Synonymous	5/28	-	13
2-169869905-A-C	c.266T>G	p.V89G	Missense	5/28	-	3
2-169869909-C-G	c.262G>C	p.D88H	Missense	5/28	-	3
2-169869909-C-T	c.262G>A	p.D88N	Missense	5/28	-	2
2-169869911-G-C	c.260C>G	p.T87R	Missense	5/28	-	1
2-169869913-C-A	c.258G>T	p.M86I	Missense	5/28	-	1
2-169869913-C-G	c.258G>C	p.M86I	Missense	5/28	-	1
2-169869913-C-T	c.258G>A	p.M86I	Missense	5/28	-	1
2-169869914-A-T	c.257T>A	p.M86K	Missense	5/28	-	2
2-169869915-T-C	c.256A>G	p.M86V	Missense	5/28	-	1
2-169869915-T-G	c.256A>C	p.M86L	Missense	5/28	-	1
2-169869921-C-G	c.250G>C	p.G84R	Missense	5/28	-	1
2-169869924-A-C	c.247T>G	p.F83V	Missense	5/28	-	1
2-169869921-CA-C	c.249del	p.F83Lfs*4	Frameshift	5/28	-	3
2-169869921-C-CA	c.249dup	p.G84Wfs*9	Frameshift	5/28	-	1
2-169869926-AT-GC	c.244_245delinsGC	p.I82A	Missense	5/28	-	1
2-169869927-T-C	c.244A>G	p.I82V	Missense	5/28	-	1
2-169869928-G-A	c.243C>T	p.L81=	Synonymous	5/28	-	2
2-169869928-G-C	c.243C>G	p.L81=	Synonymous	5/28	-	1
2-169869928-G-T	c.243C>A	p.L81=	Synonymous	5/28	-	1
2-169869930-G-A	c.241C>T	p.L81F	Missense	5/28	-	1
2-169869930-G-C	c.241C>G	p.L81V	Missense	5/28	-	1
2-169869932-A-G	c.239T>C	p.L80P	Missense	5/28	-	1
2-169869935-A-T	c.236T>A	p.V79E	Missense	5/28	-	1
2-169869936-C-T	c.235G>A	p.V79M	Missense	5/28	-	1
2-169869937-G-A	c.234C>T	p.G78=	Synonymous	5/28	-	1
2-169869938-C-G	c.233G>C	p.G78A	Missense	5/28	-	1
2-169869941-G-A	c.230C>T	p.P77L	Missense	5/28	-	1
2-169869942-G-C	c.229C>G	p.P77A	Missense	5/28	-	1
2-169869945-G-A	c.226C>T	p.Q76*	Nonsense	5/28	-	8
2-169869946-G-A	c.225C>T	p.A75=	Synonymous	5/28	-	1
2-169869948-C-T	c.223G>A	p.A75T	Missense	5/28	-	1
2-169869950-A-T	c.221T>A	p.I74K	Missense	5/28	-	1
2-169869957-G-A	c.214C>T	p.H72Y	Missense	5/28	-	1
2-169869958-G-A	c.213C>T	p.L71=	Synonymous	5/28	-	3
2-169869959-A-T	c.212T>A	p.L71H	Missense	5/28	-	1
2-169869961-A-C	c.210T>G	p.F70L	Missense	5/28	-	1
2-169869961-A-T	c.210T>A	p.F70L	Missense	5/28	-	1
2-169869963-A-G	c.208T>C	p.F70L	Missense	5/28	-	1
2-169869966-C-T	c.205G>A	p.A69T	Missense	5/28	-	1
2-169869968-C-T	c.203G>A	p.C68Y	Missense	5/28	-	1
2-169869970-C-T	c.201G>A	p.L67=	Synonymous	5/28	-	1
2-169869972-A-G	c.199T>C	p.L67=	Synonymous	5/28	-	1
2-169869974-C-G	c.197G>C	p.S66T	Missense	5/28	-	1
2-169869974-C-T	c.197G>A	p.S66N	Missense	5/28	-	2
2-169869975-T-A	c.196A>T	p.S66C	Missense	5/28	-	2
2-169869977-C-T	c.194G>A	p.G65E	Missense	5/28	-	4
2-169869978-C-G	c.193G>C	p.G65R	Missense	5/28	-	1
2-169869978-C-T	c.193G>A	p.G65R	Missense	5/28	-	1
2-169869981-C-T	c.190G>A	p.V64M	Missense	5/28	-	2
2-169869983-AA-TC	c.187_188delinsGA	p.F63D	Missense	5/28	-	1
2-169869983-A-G	c.188T>C	p.F63S	Missense	5/28	-	1
2-169869986-A-T	c.185T>A	p.M62K	Missense	5/28	-	1
2-169869991-C-T	c.180G>A	p.W60*	Nonsense	5/28	-	1
2-169869993-A-C	c.178T>G	p.W60G	Missense	5/28	-	1
2-169869996-T-G	c.175A>C	p.I59L	Missense	5/28	-	1
2-169869997-G-A	c.174C>T	p.D58=	Synonymous	5/28	-	1
2-169869999-C-T	c.172G>A	p.D58N	Missense	5/28	-	2
2-169870004-G-A	c.167C>T	p.S56L	Missense	5/28	-	5
2-169870004-G-C	c.167C>G	p.S56*	Nonsense	5/28	-	1
2-169870007-G-A	c.164C>T	p.S55L	Missense	5/28	-	5
2-169870010-G-A	c.161C>T	p.S54F	Missense	5/28	-	2
2-169870010-GA-AG	c.160_161delinsCT	p.S54L	Missense	5/28	-	1
2-169870016-C-A	c.155G>T	p.R52L	Missense	5/28	-	1
2-169870016-C-T	c.155G>A	p.R52Q	Missense	5/28	-	1
2-169870017-G-A	c.154C>T	p.R52W	Missense	5/28	-	2
2-169870019-A-T	c.152T>A	p.F51Y	Missense	5/28	-	1
2-169870094-T-A	c.151-74A>T	-	IntronicSNV	-	4/27	1
2-169870142-C-T	c.151-122G>A	-	IntronicSNV	-	4/27	1
2-169870295-C-A	c.151-275G>T	-	IntronicSNV	-	4/27	3
2-169870295-C-T	c.151-275G>A	-	IntronicSNV	-	4/27	3
2-169870379-T-C	c.151-359A>G	-	IntronicSNV	-	4/27	2
2-169870742-A-G	c.150+71T>C	-	IntronicSNV	-	4/27	1
2-169870810-T-C	c.150+3A>G	-	IntronicSNV	-	4/27	2
2-169870810-T-G	c.150+3A>C	-	IntronicSNV	-	4/27	3
2-169870811-A-G	c.150+2T>C	-	IntronicSNV	-	4/27	1
2-169870814-A-G	c.149T>C	p.L50S	Missense	4/28	-	1
2-169870816-T-C	c.147A>G	p.Q49=	Synonymous	4/28	-	1
2-169870817-T-C	c.146A>G	p.Q49R	Missense	4/28	-	1
2-169870818-G-A	c.145C>T	p.Q49*	Nonsense	4/28	-	6
2-169870819-A-G	c.144T>C	p.F48=	Synonymous	4/28	-	1
2-169870825-GC-CT	c.137_138delinsAG	p.G46E	Missense	4/28	-	1
2-169870826-C-T	c.137G>A	p.G46D	Missense	4/28	-	2
2-169870832-C-A	c.131G>T	p.R44I	Missense	4/28	-	1
2-169870832-C-G	c.131G>C	p.R44T	Missense	4/28	-	3
2-169870836-C-A	c.127G>T	p.V43F	Missense	4/28	-	1
2-169870836-C-T	c.127G>A	p.V43I	Missense	4/28	-	7
2-169870837-G-A	c.126C>T	p.G42=	Synonymous	4/28	-	1
2-169870837-G-C	c.126C>G	p.G42=	Synonymous	4/28	-	1
2-169870837-G-T	c.126C>A	p.G42=	Synonymous	4/28	-	1
2-169870844-C-A	c.119G>T	p.G40V	Missense	4/28	-	1
2-169870844-C-T	c.119G>A	p.G40D	Missense	4/28	-	1
2-169870845-C-G	c.118G>C	p.G40R	Missense	4/28	-	1
2-169870846-T-A	c.117A>T	p.K39N	Missense	4/28	-	1
2-169870846-T-G	c.117A>C	p.K39N	Missense	4/28	-	1
2-169870849-CT-C	c.113del	p.K38Rfs*24	Frameshift	4/28	-	1
2-169870851-T-A	c.112A>T	p.K38*	Nonsense	4/28	-	7
2-169870852-C-T	c.111G>A	p.E37=	Synonymous	4/28	-	1
2-169870855-A-C	c.108T>G	p.D36E	Missense	4/28	-	1
2-169870855-A-G	c.108T>C	p.D36=	Synonymous	4/28	-	21
2-169870855-A-T	c.108T>A	p.D36E	Missense	4/28	-	1
2-169870856-T-C	c.107A>G	p.D36G	Missense	4/28	-	1
2-169870858-T-A	c.105A>T	p.Q35H	Missense	4/28	-	1
2-169870858-T-G	c.105A>C	p.Q35H	Missense	4/28	-	1
2-169870882-A-G	c.99-18T>C	-	IntronicSNV	-	3/27	7
2-169871057-T-C	c.99-193A>G	-	IntronicSNV	-	3/27	2
2-169872582-A-G	c.98+706T>C	-	IntronicSNV	-	3/27	1
2-169873205-G-A	c.98+83C>T	-	IntronicSNV	-	3/27	1
2-169873291-G-A	c.95C>T	p.S32L	Missense	3/28	-	1
2-169873291-GA-AT	c.94_95delinsAT	p.S32I	Missense	3/28	-	1
2-169873292-ATTTC-A	c.90_93del	p.K30Nfs*31	Frameshift	3/28	-	1
2-169873298-TATC-T	c.85_87del	p.D29del	InFrameDeletion	3/28	-	4
2-169873301-C-T	c.85G>A	p.D29N	Missense	3/28	-	2
2-169873331-G-A	c.77-22C>T	-	IntronicSNV	-	2/27	1
2-169873482-A-C	c.77-173T>G	-	IntronicSNV	-	2/27	3
2-169873482-A-G	c.77-173T>C	-	IntronicSNV	-	2/27	3
2-169873486-T-A	c.77-177A>T	-	IntronicSNV	-	2/27	2
2-169873486-T-C	c.77-177A>G	-	IntronicSNV	-	2/27	2
2-169873533-C-CAT	c.77-225_77-224insAT	-	IntronicInsertion	-	2/27	2
2-169873821-G-A	c.77-512C>T	-	IntronicSNV	-	2/27	1
2-169874238-C-A	c.76+322G>T	-	IntronicSNV	-	2/27	1
2-169874433-C-T	c.76+127G>A	-	IntronicSNV	-	2/27	1
2-169874557-C-A	c.76+3G>T	-	IntronicSNV	-	2/27	1
2-169874560-A-T	c.76T>A	p.Y26N	Missense	2/28	-	1
2-169874561-TGA-GTT	c.73_75delinsAAC	p.S25N	Missense	2/28	-	1
2-169874561-TG-CC	c.74_75delinsGG	p.S25W	Missense	2/28	-	1
2-169874562-G-A	c.74C>T	p.S25L	Missense	2/28	-	5
2-169874562-G-C	c.74C>G	p.S25*	Nonsense	2/28	-	1
2-169874562-G-T	c.74C>A	p.S25*	Nonsense	2/28	-	2
2-169874568-T-C	c.68A>G	p.D23G	Missense	2/28	-	1
2-169874569-C-A	c.67G>T	p.D23Y	Missense	2/28	-	2
2-169874569-C-T	c.67G>A	p.D23N	Missense	2/28	-	1
2-169874571-G-A	c.65C>T	p.S22L	Missense	2/28	-	1
2-169874572-A-T	c.64T>A	p.S22T	Missense	2/28	-	1
2-169874573-C-A	c.63G>T	p.E21D	Missense	2/28	-	1
2-169874575-C-T	c.61G>A	p.E21K	Missense	2/28	-	1
2-169874581-C-G	c.55G>C	p.G19R	Missense	2/28	-	1
2-169874582-A-C	c.54T>G	p.D18E	Missense	2/28	-	2
2-169874582-A-T	c.54T>A	p.D18E	Missense	2/28	-	2
2-169874585-A-AC	c.50_51insG	p.N17Kfs*2	Frameshift	2/28	-	1
2-169874588-C-A	c.48G>T	p.E16D	Missense	2/28	-	1
2-169874588-C-G	c.48G>C	p.E16D	Missense	2/28	-	1
2-169874590-C-A	c.46G>T	p.E16*	Nonsense	2/28	-	1
2-169874590-C-T	c.46G>A	p.E16K	Missense	2/28	-	1
2-169874591-C-T	c.45G>A	p.E15=	Synonymous	2/28	-	1
2-169874593-C-G	c.43G>C	p.E15Q	Missense	2/28	-	1
2-169874596-C-G	c.40G>C	p.G14R	Missense	2/28	-	1
2-169874596-C-T	c.40G>A	p.G14R	Missense	2/28	-	2
2-169874598-A-G	c.38T>C	p.F13S	Missense	2/28	-	3
2-169874600-T-G	c.36A>C	p.K12N	Missense	2/28	-	1
2-169874601-T-C	c.35A>G	p.K12R	Missense	2/28	-	1
2-169874602-T-C	c.34A>G	p.K12E	Missense	2/28	-	1
2-169874603-C-A	c.33G>T	p.K11N	Missense	2/28	-	1
2-169874603-C-G	c.33G>C	p.K11N	Missense	2/28	-	1
2-169874603-C-T	c.33G>A	p.K11=	Synonymous	2/28	-	1
2-169874609-A-G	c.27T>C	p.S9=	Synonymous	2/28	-	1
2-169874613-CG-TT	c.22_23delinsAA	p.R8K	Missense	2/28	-	1
2-169874613-C-T	c.23G>A	p.R8Q	Missense	2/28	-	10
2-169874614-G-A	c.22C>T	p.R8*	Nonsense	2/28	-	14
2-169874617-G-T	c.19C>A	p.L7I	Missense	2/28	-	4
2-169874625-G-C	c.11C>G	p.S4*	Nonsense	2/28	-	1
2-169874626-A-C	c.10T>G	p.S4A	Missense	2/28	-	1
2-169874629-C-T	c.7G>A	p.D3N	Missense	2/28	-	2
2-169874634-A-T	c.2T>A	p.M1?	Missense	2/28	-	1
2-169874635-T-C	c.1A>G	p.M1?	Missense	2/28	-	2
2-169874712-C-T	c.-27-50G>A	-	IntronicSNV	-	1/27	1
2-169875245-G-T	c.-27-583C>A	-	IntronicSNV	-	1/27	3
2-169875539-G-A	c.-27-877C>T	-	IntronicSNV	-	1/27	3
2-169875539-G-T	c.-27-877C>A	-	IntronicSNV	-	1/27	3
2-169877085-T-C	c.-27-2423A>G	-	IntronicSNV	-	1/27	4
2-169880178-A-G	c.-27-5516T>C	-	IntronicSNV	-	1/27	7
2-169881691-A-G	c.-28+6044T>C	-	intron_variant	-	1/27	4
2-169881691-A-T	c.-28+6044T>A	-	intron_variant	-	1/27	4
2-169882084-A-G	c.-28+5651T>C	-	intron_variant	-	1/27	4
2-169883218-C-T	c.-28+4517G>A	-	intron_variant	-	1/27	6
2-169884648-T-C	c.-28+3087A>G	-	intron_variant	-	1/27	7
2-169887154-G-A	c.-28+581C>T	-	intron_variant	-	1/27	6
2-169887758-C-A	c.-51G>T	-	5_prime_UTR_variant	1/28	-	1