JAK2

JAK2 Janus kinase 2

Annotation transcript: NM_004972.4

3901 unique variant annotations were identified in 2618 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
9-4985388-C-T	c.-351C>T	-	5_prime_UTR_variant	1/25	-	3
9-4985542-T-C	c.-197T>C	-	5_prime_UTR_variant	1/25	-	9
9-4985879-A-G	c.-108-61A>G	-	intron_variant	-	1/24	11
9-4987797-T-A	c.-26+1775T>A	-	intron_variant	-	2/24	1
9-4987958-C-T	c.-26+1936C>T	-	intron_variant	-	2/24	2
9-4988048-G-C	c.-26+2026G>C	-	intron_variant	-	2/24	1
9-4988341-C-T	c.-26+2319C>T	-	intron_variant	-	2/24	1
9-4988657-T-C	c.-26+2635T>C	-	intron_variant	-	2/24	1
9-4988683-C-G	c.-26+2661C>G	-	intron_variant	-	2/24	1
9-4988683-C-T	c.-26+2661C>T	-	intron_variant	-	2/24	1
9-4988761-C-T	c.-26+2739C>T	-	intron_variant	-	2/24	13
9-4991379-G-A	c.-26+5357G>A	-	intron_variant	-	2/24	1
9-4991840-T-C	c.-26+5818T>C	-	intron_variant	-	2/24	1
9-4991840-T-G	c.-26+5818T>G	-	intron_variant	-	2/24	1
9-4993267-T-C	c.-26+7245T>C	-	intron_variant	-	2/24	1
9-4993267-T-G	c.-26+7245T>G	-	intron_variant	-	2/24	1
9-4995125-G-A	c.-26+9103G>A	-	intron_variant	-	2/24	1
9-4997333-A-G	c.-26+11311A>G	-	intron_variant	-	2/24	1
9-4997333-A-T	c.-26+11311A>T	-	intron_variant	-	2/24	1
9-4998401-C-T	c.-26+12379C>T	-	intron_variant	-	2/24	4
9-4998639-A-C	c.-26+12617A>C	-	intron_variant	-	2/24	2
9-4998639-A-G	c.-26+12617A>G	-	intron_variant	-	2/24	2
9-4998855-G-A	c.-26+12833G>A	-	intron_variant	-	2/24	1
9-4998855-G-C	c.-26+12833G>C	-	intron_variant	-	2/24	1
9-4998855-G-T	c.-26+12833G>T	-	intron_variant	-	2/24	1
9-4999303-A-G	c.-26+13281A>G	-	intron_variant	-	2/24	7
9-5000155-T-G	c.-26+14133T>G	-	intron_variant	-	2/24	1
9-5000811-A-G	c.-26+14789A>G	-	intron_variant	-	2/24	4
9-5001269-C-A	c.-26+15247C>A	-	intron_variant	-	2/24	1
9-5002011-C-T	c.-26+15989C>T	-	intron_variant	-	2/24	1
9-5002332-T-A	c.-26+16310T>A	-	intron_variant	-	2/24	1
9-5002911-C-A	c.-26+16889C>A	-	intron_variant	-	2/24	1
9-5002911-C-G	c.-26+16889C>G	-	intron_variant	-	2/24	1
9-5002911-C-T	c.-26+16889C>T	-	intron_variant	-	2/24	1
9-5003338-G-A	c.-26+17316G>A	-	intron_variant	-	2/24	3
9-5003338-G-C	c.-26+17316G>C	-	intron_variant	-	2/24	3
9-5003973-G-T	c.-26+17951G>T	-	intron_variant	-	2/24	5
9-5005034-A-T	c.-25-16929A>T	-	IntronicSNV	-	2/24	5
9-5005040-T-A	c.-25-16923T>A	-	IntronicSNV	-	2/24	1
9-5005040-T-C	c.-25-16923T>C	-	IntronicSNV	-	2/24	1
9-5006345-G-C	c.-25-15618G>C	-	IntronicSNV	-	2/24	1
9-5006345-G-T	c.-25-15618G>T	-	IntronicSNV	-	2/24	1
9-5006743-T-G	c.-25-15220T>G	-	IntronicSNV	-	2/24	1
9-5007138-C-T	c.-25-14825C>T	-	IntronicSNV	-	2/24	1
9-5008070-C-A	c.-25-13893C>A	-	IntronicSNV	-	2/24	3
9-5008070-C-T	c.-25-13893C>T	-	IntronicSNV	-	2/24	3
9-5009541-G-A	c.-25-12422G>A	-	IntronicSNV	-	2/24	1
9-5010091-G-A	c.-25-11872G>A	-	IntronicSNV	-	2/24	2
9-5010192-G-A	c.-25-11771G>A	-	IntronicSNV	-	2/24	8
9-5010751-C-A	c.-25-11212C>A	-	IntronicSNV	-	2/24	3
9-5010885-A-C	c.-25-11078A>C	-	IntronicSNV	-	2/24	1
9-5010885-A-T	c.-25-11078A>T	-	IntronicSNV	-	2/24	1
9-5011795-C-T	c.-25-10168C>T	-	IntronicSNV	-	2/24	1
9-5012696-A-G	c.-25-9267A>G	-	IntronicSNV	-	2/24	1
9-5013309-G-A	c.-25-8654G>A	-	IntronicSNV	-	2/24	1
9-5014332-G-A	c.-25-7631G>A	-	IntronicSNV	-	2/24	3
9-5015143-G-A	c.-25-6820G>A	-	IntronicSNV	-	2/24	1
9-5015143-G-T	c.-25-6820G>T	-	IntronicSNV	-	2/24	1
9-5015732-C-A	c.-25-6231C>A	-	IntronicSNV	-	2/24	6
9-5015901-T-A	c.-25-6062T>A	-	IntronicSNV	-	2/24	4
9-5015901-T-C	c.-25-6062T>C	-	IntronicSNV	-	2/24	4
9-5015901-T-G	c.-25-6062T>G	-	IntronicSNV	-	2/24	4
9-5016145-C-T	c.-25-5818C>T	-	IntronicSNV	-	2/24	1
9-5016455-A-T	c.-25-5508A>T	-	IntronicSNV	-	2/24	1
9-5016818-A-G	c.-25-5145A>G	-	IntronicSNV	-	2/24	1
9-5017350-G-A	c.-25-4613G>A	-	IntronicSNV	-	2/24	3
9-5017384-C-A	c.-25-4579C>A	-	IntronicSNV	-	2/24	2
9-5017384-C-T	c.-25-4579C>T	-	IntronicSNV	-	2/24	2
9-5018041-G-A	c.-25-3922G>A	-	IntronicSNV	-	2/24	1
9-5019201-T-G	c.-25-2762T>G	-	IntronicSNV	-	2/24	1
9-5020089-G-A	c.-25-1874G>A	-	IntronicSNV	-	2/24	1
9-5021140-T-A	c.-25-823T>A	-	IntronicSNV	-	2/24	1
9-5021191-A-T	c.-25-772A>T	-	IntronicSNV	-	2/24	1
9-5021514-A-G	c.-25-449A>G	-	IntronicSNV	-	2/24	4
9-5021738-G-A	c.-25-225G>A	-	IntronicSNV	-	2/24	1
9-5021738-G-C	c.-25-225G>C	-	IntronicSNV	-	2/24	1
9-5021991-G-A	c.4G>A	p.G2R	Missense	3/25	-	1
9-5021991-GGA-AGC	c.4_6delinsAGC	p.G2S	Missense	3/25	-	1
9-5021993-A-C	c.6A>C	p.G2=	Synonymous	3/25	-	2
9-5021993-A-G	c.6A>G	p.G2=	Synonymous	3/25	-	2
9-5021993-A-T	c.6A>T	p.G2=	Synonymous	3/25	-	2
9-5021996-G-A	c.9G>A	p.M3I	Missense	3/25	-	1
9-5021997-G-A	c.10G>A	p.A4T	Missense	3/25	-	2
9-5021998-C-A	c.11C>A	p.A4D	Missense	3/25	-	1
9-5021999-C-G	c.12C>G	p.A4=	Synonymous	3/25	-	1
9-5022002-C-T	c.15C>T	p.C5=	Synonymous	3/25	-	7
9-5022005-T-A	c.18T>A	p.L6=	Synonymous	3/25	-	1
9-5022005-T-C	c.18T>C	p.L6=	Synonymous	3/25	-	1
9-5022005-T-G	c.18T>G	p.L6=	Synonymous	3/25	-	1
9-5022006-A-C	c.19A>C	p.T7P	Missense	3/25	-	1
9-5022007-C-A	c.20C>A	p.T7K	Missense	3/25	-	1
9-5022007-C-T	c.20C>T	p.T7M	Missense	3/25	-	2
9-5022008-G-A	c.21G>A	p.T7=	Synonymous	3/25	-	2
9-5022012-A-G	c.25A>G	p.T9A	Missense	3/25	-	1
9-5022013-C-T	c.26C>T	p.T9I	Missense	3/25	-	1
9-5022015-G-A	c.28G>A	p.E10K	Missense	3/25	-	5
9-5022016-A-C	c.29A>C	p.E10A	Missense	3/25	-	1
9-5022017-A-C	c.30A>C	p.E10D	Missense	3/25	-	1
9-5022018-A-G	c.31A>G	p.M11V	Missense	3/25	-	1
9-5022020-G-T	c.33G>T	p.M11I	Missense	3/25	-	1
9-5022021-G-A	c.34G>A	p.E12K	Missense	3/25	-	4
9-5022021-G-C	c.34G>C	p.E12Q	Missense	3/25	-	2
9-5022021-G-T	c.34G>T	p.E12*	Nonsense	3/25	-	3
9-5022022-A-C	c.35A>C	p.E12A	Missense	3/25	-	2
9-5022023-G-T	c.36G>T	p.E12D	Missense	3/25	-	2
9-5022024-G-A	c.37G>A	p.G13R	Missense	3/25	-	1
9-5022024-G-C	c.37G>C	p.G13R	Missense	3/25	-	1
9-5022024-GGA-AAC	c.37_39delinsAAC	p.G13N	Missense	3/25	-	1
9-5022024-GGA-AGC	c.37_39delinsAGC	p.G13S	Missense	3/25	-	1
9-5022024-GGA-TGT	c.37_39delinsTGT	p.G13C	Missense	3/25	-	2
9-5022024-G-T	c.37G>T	p.G13*	Nonsense	3/25	-	1
9-5022025-G-A	c.38G>A	p.G13E	Missense	3/25	-	4
9-5022025-GA-AC	c.38_39delinsAC	p.G13D	Missense	3/25	-	14
9-5022025-G-T	c.38G>T	p.G13V	Missense	3/25	-	1
9-5022028-C-T	c.41C>T	p.T14I	Missense	3/25	-	2
9-5022029-A-C	c.42A>C	p.T14=	Synonymous	3/25	-	1
9-5022029-A-G	c.42A>G	p.T14=	Synonymous	3/25	-	1
9-5022029-A-T	c.42A>T	p.T14=	Synonymous	3/25	-	1
9-5022030-T-C	c.43T>C	p.S15P	Missense	3/25	-	1
9-5022030-TC-AA	c.43_44delinsAA	p.S15N	Missense	3/25	-	1
9-5022030-TCC-GAG	c.43_45delinsGAG	p.S15E	Missense	3/25	-	1
9-5022030-TC-GA	c.43_44inv	p.S15D	Missense	3/25	-	1
9-5022030-T-G	c.43T>G	p.S15A	Missense	3/25	-	4
9-5022031-C-G	c.44C>G	p.S15C	Missense	3/25	-	2
9-5022031-C-T	c.44C>T	p.S15F	Missense	3/25	-	7
9-5022034-C-A	c.47C>A	p.T16N	Missense	3/25	-	2
9-5022034-C-T	c.47C>T	p.T16I	Missense	3/25	-	1
9-5022035-C-A	c.48C>A	p.T16=	Synonymous	3/25	-	1
9-5022035-C-G	c.48C>G	p.T16=	Synonymous	3/25	-	1
9-5022035-C-T	c.48C>T	p.T16=	Synonymous	3/25	-	1
9-5022036-T-C	c.49T>C	p.S17P	Missense	3/25	-	1
9-5022036-TC-AA	c.49_50delinsAA	p.S17N	Missense	3/25	-	2
9-5022036-TC-GA	c.49_50inv	p.S17D	Missense	3/25	-	2
9-5022036-TCT-AAG	c.49_51delinsAAG	p.S17K	Missense	3/25	-	1
9-5022036-T-G	c.49T>G	p.S17A	Missense	3/25	-	7
9-5022037-C-G	c.50C>G	p.S17C	Missense	3/25	-	5
9-5022037-C-T	c.50C>T	p.S17F	Missense	3/25	-	2
9-5022038-T-A	c.51T>A	p.S17=	Synonymous	3/25	-	1
9-5022038-T-C	c.51T>C	p.S17=	Synonymous	3/25	-	1
9-5022038-T-G	c.51T>G	p.S17=	Synonymous	3/25	-	1
9-5022039-TC-AT	c.52_53delinsAT	p.S18I	Missense	3/25	-	1
9-5022039-TC-CT	c.52_53delinsCT	p.S18L	Missense	3/25	-	1
9-5022039-TC-GA	c.52_53inv	p.S18D	Missense	3/25	-	1
9-5022039-T-G	c.52T>G	p.S18A	Missense	3/25	-	5
9-5022040-C-G	c.53C>G	p.S18C	Missense	3/25	-	2
9-5022040-C-T	c.53C>T	p.S18F	Missense	3/25	-	3
9-5022041-T-C	c.54T>C	p.S18=	Synonymous	3/25	-	1
9-5022042-A-C	c.55A>C	p.I19L	Missense	3/25	-	1
9-5022042-A-G	c.55A>G	p.I19V	Missense	3/25	-	1
9-5022042-A-T	c.55A>T	p.I19L	Missense	3/25	-	1
9-5022044-A-G	c.57A>G	p.I19M	Missense	3/25	-	1
9-5022048-CAG-GAC	c.61_63delinsGAC	p.Q21D	Missense	3/25	-	1
9-5022048-C-G	c.61C>G	p.Q21E	Missense	3/25	-	3
9-5022050-G-A	c.63G>A	p.Q21=	Synonymous	3/25	-	1
9-5022050-G-C	c.63G>C	p.Q21H	Missense	3/25	-	3
9-5022050-G-T	c.63G>T	p.Q21H	Missense	3/25	-	2
9-5022052-A-C	c.65A>C	p.N22T	Missense	3/25	-	1
9-5022052-A-G	c.65A>G	p.N22S	Missense	3/25	-	1
9-5022054-G-A	c.67G>A	p.G23S	Missense	3/25	-	1
9-5022055-G-T	c.68G>T	p.G23V	Missense	3/25	-	3
9-5022055-GT-AG	c.68_69delinsAG	p.G23E	Missense	3/25	-	1
9-5022056-T-A	c.69T>A	p.G23=	Synonymous	3/25	-	1
9-5022057-GAT-ATG	c.70_72delinsATG	p.D24M	Missense	3/25	-	1
9-5022057-GAT-TAA	c.70_72delinsTAA	p.D24*	Nonsense	3/25	-	1
9-5022057-G-C	c.70G>C	p.D24H	Missense	3/25	-	1
9-5022058-A-G	c.71A>G	p.D24G	Missense	3/25	-	1
9-5022059-T-C	c.72T>C	p.D24=	Synonymous	3/25	-	1
9-5022060-A-C	c.73A>C	p.I25L	Missense	3/25	-	1
9-5022061-T-C	c.74T>C	p.I25T	Missense	3/25	-	1
9-5022061-T-G	c.74T>G	p.I25S	Missense	3/25	-	1
9-5022062-T-C	c.75T>C	p.I25=	Synonymous	3/25	-	1
9-5022063-T-A	c.76T>A	p.S26T	Missense	3/25	-	1
9-5022063-TC-CT	c.76_77delinsCT	p.S26L	Missense	3/25	-	1
9-5022064-C-G	c.77C>G	p.S26C	Missense	3/25	-	2
9-5022064-C-T	c.77C>T	p.S26F	Missense	3/25	-	2
9-5022066-G-T	c.79G>T	p.G27*	Nonsense	3/25	-	1
9-5022067-G-A	c.80G>A	p.G27E	Missense	3/25	-	1
9-5022069-A-C	c.82A>C	p.N28H	Missense	3/25	-	1
9-5022071-T-C	c.84T>C	p.N28=	Synonymous	3/25	-	1
9-5022072-G-A	c.85G>A	p.A29T	Missense	3/25	-	1
9-5022072-G-C	c.85G>C	p.A29P	Missense	3/25	-	2
9-5022072-GC-AA	c.85_86delinsAA	p.A29N	Missense	3/25	-	2
9-5022072-GC-AT	c.85_86delinsAT	p.A29I	Missense	3/25	-	2
9-5022072-GC-CA	c.85_86delinsCA	p.A29H	Missense	3/25	-	2
9-5022072-GCC-ATG	c.85_87delinsATG	p.A29M	Missense	3/25	-	3
9-5022072-GCC-CAA	c.85_87delinsCAA	p.A29Q	Missense	3/25	-	2
9-5022072-GC-CG	c.85_86delinsCG	p.A29R	Missense	3/25	-	2
9-5022072-GC-CT	c.85_86delinsCT	p.A29L	Missense	3/25	-	3
9-5022072-GCC-TAA	c.85_87delinsTAA	p.A29*	Nonsense	3/25	-	2
9-5022072-GCC-TGG	c.85_87delinsTGG	p.A29W	Missense	3/25	-	2
9-5022072-GC-TG	c.85_86delinsTG	p.A29C	Missense	3/25	-	2
9-5022072-G-T	c.85G>T	p.A29S	Missense	3/25	-	2
9-5022073-C-A	c.86C>A	p.A29D	Missense	3/25	-	3
9-5022073-CC-AG	c.86_87delinsAG	p.A29E	Missense	3/25	-	5
9-5022073-C-G	c.86C>G	p.A29G	Missense	3/25	-	4
9-5022073-C-T	c.86C>T	p.A29V	Missense	3/25	-	4
9-5022074-C-A	c.87C>A	p.A29=	Synonymous	3/25	-	2
9-5022074-C-G	c.87C>G	p.A29=	Synonymous	3/25	-	2
9-5022074-C-T	c.87C>T	p.A29=	Synonymous	3/25	-	2
9-5022076-A-G	c.89A>G	p.N30S	Missense	3/25	-	1
9-5022077-T-C	c.90T>C	p.N30=	Synonymous	3/25	-	1
9-5022079-C-G	c.92C>G	p.S31C	Missense	3/25	-	1
9-5022079-C-T	c.92C>T	p.S31F	Missense	3/25	-	1
9-5022080-T-C	c.93T>C	p.S31=	Synonymous	3/25	-	2
9-5022081-A-G	c.94A>G	p.M32V	Missense	3/25	-	1
9-5022081-A-T	c.94A>T	p.M32L	Missense	3/25	-	1
9-5022083-G-A	c.96G>A	p.M32I	Missense	3/25	-	1
9-5022083-G-C	c.96G>C	p.M32I	Missense	3/25	-	1
9-5022083-G-T	c.96G>T	p.M32I	Missense	3/25	-	1
9-5022084-AA-GC	c.97_98delinsGC	p.K33A	Missense	3/25	-	1
9-5022084-A-AT	c.97_98insT	p.K33Ifs*19	Frameshift	3/25	-	1
9-5022085-A-C	c.98A>C	p.K33T	Missense	3/25	-	2
9-5022085-A-G	c.98A>G	p.K33R	Missense	3/25	-	1
9-5022086-G-C	c.99G>C	p.K33N	Missense	3/25	-	1
9-5022086-G-T	c.99G>T	p.K33N	Missense	3/25	-	1
9-5022087-C-G	c.100C>G	p.Q34E	Missense	3/25	-	1
9-5022087-C-T	c.100C>T	p.Q34*	Nonsense	3/25	-	1
9-5022088-A-G	c.101A>G	p.Q34R	Missense	3/25	-	2
9-5022090-A-G	c.103A>G	p.I35V	Missense	3/25	-	1
9-5022091-TA-GC	c.104_105delinsGC	p.I35S	Missense	3/25	-	1
9-5022091-T-C	c.104T>C	p.I35T	Missense	3/25	-	1
9-5022091-T-G	c.104T>G	p.I35R	Missense	3/25	-	1
9-5022092-A-C	c.105A>C	p.I35=	Synonymous	3/25	-	1
9-5022092-A-G	c.105A>G	p.I35M	Missense	3/25	-	1
9-5022092-A-T	c.105A>T	p.I35=	Synonymous	3/25	-	2
9-5022093-G-A	c.106G>A	p.D36N	Missense	3/25	-	3
9-5022093-GA-TG	c.106_107delinsTG	p.D36C	Missense	3/25	-	1
9-5022095-T-A	c.108T>A	p.D36E	Missense	3/25	-	1
9-5022095-T-G	c.108T>G	p.D36E	Missense	3/25	-	1
9-5022098-A-C	c.111A>C	p.P37=	Synonymous	3/25	-	1
9-5022099-G-T	c.112G>T	p.V38F	Missense	3/25	-	1
9-5022102-CT-GC	c.115_116delinsGC	p.L39A	Missense	3/25	-	5
9-5022103-T-C	c.116T>C	p.L39P	Missense	3/25	-	1
9-5022105-C-T	c.118C>T	p.Q40*	Nonsense	3/25	-	2
9-5022107-G-C	c.120G>C	p.Q40H	Missense	3/25	-	1
9-5022108-G-A	c.121G>A	p.V41M	Missense	3/25	-	2
9-5022109-T-C	c.122T>C	p.V41A	Missense	3/25	-	1
9-5022111-T-C	c.124T>C	p.Y42H	Missense	3/25	-	2
9-5022113-T-G	c.126T>G	p.Y42*	Nonsense	3/25	-	1
9-5022114-CT-AG	c.127_128inv	p.L43S	Missense	3/25	-	1
9-5022117-T-A	c.130T>A	p.Y44N	Missense	3/25	-	1
9-5022118-A-G	c.131A>G	p.Y44C	Missense	3/25	-	2
9-5022119-C-A	c.132C>A	p.Y44*	Nonsense	3/25	-	9
9-5022119-C-G	c.132C>G	p.Y44*	Nonsense	3/25	-	7
9-5022121-A-G	c.134A>G	p.H45R	Missense	3/25	-	2
9-5022122-T-A	c.135T>A	p.H45Q	Missense	3/25	-	1
9-5022122-T-G	c.135T>G	p.H45Q	Missense	3/25	-	1
9-5022124-C-A	c.137C>A	p.S46Y	Missense	3/25	-	2
9-5022124-C-T	c.137C>T	p.S46F	Missense	3/25	-	2
9-5022125-C-A	c.138C>A	p.S46=	Synonymous	3/25	-	1
9-5022125-C-G	c.138C>G	p.S46=	Synonymous	3/25	-	1
9-5022125-C-T	c.138C>T	p.S46=	Synonymous	3/25	-	1
9-5022126-C-A	c.139C>A	p.L47I	Missense	3/25	-	1
9-5022126-C-G	c.139C>G	p.L47V	Missense	3/25	-	1
9-5022126-C-T	c.139C>T	p.L47F	Missense	3/25	-	5
9-5022126-C-TTTT	c.139delinsTTTT	p.L47delinsFF	MultiAAMissense	3/25	-	1
9-5022127-T-C	c.140T>C	p.L47P	Missense	3/25	-	1
9-5022129-G-A	c.142G>A	p.G48R	Missense	3/25	-	1
9-5022129-G-C	c.142G>C	p.G48R	Missense	3/25	-	2
9-5022130-G-A	c.143G>A	p.G48E	Missense	3/25	-	8
9-5022132-AA-GC	c.145_146delinsGC	p.K49A	Missense	3/25	-	1
9-5022133-A-C	c.146A>C	p.K49T	Missense	3/25	-	1
9-5022133-A-G	c.146A>G	p.K49R	Missense	3/25	-	1
9-5022134-A-C	c.147A>C	p.K49N	Missense	3/25	-	1
9-5022134-A-T	c.147A>T	p.K49N	Missense	3/25	-	1
9-5022135-T-C	c.148T>C	p.S50P	Missense	3/25	-	1
9-5022138-G-A	c.151G>A	p.E51K	Missense	3/25	-	4
9-5022138-G-T	c.151G>T	p.E51*	Nonsense	3/25	-	1
9-5022139-A-T	c.152A>T	p.E51V	Missense	3/25	-	1
9-5022140-G-A	c.153G>A	p.E51=	Synonymous	3/25	-	1
9-5022141-G-A	c.154G>A	p.A52T	Missense	3/25	-	1
9-5022141-GCA-AAC	c.154_156delinsAAC	p.A52N	Missense	3/25	-	1
9-5022141-GC-CA	c.154_155delinsCA	p.A52Q	Missense	3/25	-	1
9-5022142-CA-AC	c.155_156delinsAC	p.A52D	Missense	3/25	-	1
9-5022142-C-T	c.155C>T	p.A52V	Missense	3/25	-	1
9-5022143-A-C	c.156A>C	p.A52=	Synonymous	3/25	-	1
9-5022143-A-G	c.156A>G	p.A52=	Synonymous	3/25	-	1
9-5022143-A-T	c.156A>T	p.A52=	Synonymous	3/25	-	2
9-5022144-G-A	c.157G>A	p.D53N	Missense	3/25	-	2
9-5022144-GAT-ACAAAC	c.157_159delinsACAAAC	p.D53delinsTN	MultiAAMissense	3/25	-	1
9-5022144-G-T	c.157G>T	p.D53Y	Missense	3/25	-	1
9-5022145-A-C	c.158A>C	p.D53A	Missense	3/25	-	4
9-5022146-T-A	c.159T>A	p.D53E	Missense	3/25	-	1
9-5022146-T-G	c.159T>G	p.D53E	Missense	3/25	-	1
9-5022148-A-G	c.161A>G	p.Y54C	Missense	3/25	-	1
9-5022149-T-G	c.162T>G	p.Y54*	Nonsense	3/25	-	1
9-5022150-C-G	c.163C>G	p.L55V	Missense	3/25	-	1
9-5022150-CTG-TTT	c.163_165delinsTTT	p.L55F	Missense	3/25	-	2
9-5022151-T-C	c.164T>C	p.L55P	Missense	3/25	-	7
9-5022151-T-G	c.164T>G	p.L55R	Missense	3/25	-	2
9-5022154-C-T	c.167C>T	p.T56I	Missense	3/25	-	1
9-5022153-AC-A	c.168del	p.P58Hfs*30	Frameshift	3/25	-	1
9-5022156-T-C	c.169T>C	p.F57L	Missense	3/25	-	2
9-5022158-T-A	c.171T>A	p.F57L	Missense	3/25	-	1
9-5022158-T-G	c.171T>G	p.F57L	Missense	3/25	-	1
9-5022157-T-G	c.170T>G	p.F57C	Missense	3/25	-	1
9-5022157-T-TGCTGCA	c.170_171insGCTGCA	p.F57delinsLLH	MultiAAMissense	3/25	-	1
9-5022159-CCA-TGT	c.172_174delinsTGT	p.P58C	Missense	3/25	-	2
9-5022159-C-G	c.172C>G	p.P58A	Missense	3/25	-	2
9-5022159-C-T	c.172C>T	p.P58S	Missense	3/25	-	1
9-5022160-C-A	c.173C>A	p.P58Q	Missense	3/25	-	1
9-5022160-C-T	c.173C>T	p.P58L	Missense	3/25	-	4
9-5022161-A-C	c.174A>C	p.P58=	Synonymous	3/25	-	1
9-5022161-A-G	c.174A>G	p.P58=	Synonymous	3/25	-	1
9-5022161-A-T	c.174A>T	p.P58=	Synonymous	3/25	-	1
9-5022162-ATCT-A	c.175_177del	p.S59del	InFrameDeletion	3/25	-	1
9-5022162-T-C	c.175T>C	p.S59P	Missense	3/25	-	1
9-5022162-T-G	c.175T>G	p.S59A	Missense	3/25	-	2
9-5022163-C-A	c.176C>A	p.S59Y	Missense	3/25	-	1
9-5022163-C-G	c.176C>G	p.S59C	Missense	3/25	-	2
9-5022163-C-T	c.176C>T	p.S59F	Missense	3/25	-	1
9-5022165-G-A	c.178G>A	p.G60R	Missense	3/25	-	1
9-5022165-G-C	c.178G>C	p.G60R	Missense	3/25	-	2
9-5022165-GGG-TTT	c.178_180delinsTTT	p.G60F	Missense	3/25	-	1
9-5022166-G-A	c.179G>A	p.G60E	Missense	3/25	-	1
9-5022166-G-C	c.179G>C	p.G60A	Missense	3/25	-	1
9-5022166-GG-AC	c.179_180delinsAC	p.G60D	Missense	3/25	-	1
9-5022166-G-T	c.179G>T	p.G60V	Missense	3/25	-	4
9-5022168-G-A	c.181G>A	p.E61K	Missense	3/25	-	1
9-5022168-G-T	c.181G>T	p.E61*	Nonsense	3/25	-	2
9-5022169-A-T	c.182A>T	p.E61V	Missense	3/25	-	2
9-5022171-T-C	c.184T>C	p.Y62H	Missense	3/25	-	1
9-5022172-A-G	c.185A>G	p.Y62C	Missense	3/25	-	2
9-5022173-T-A	c.186T>A	p.Y62*	Nonsense	3/25	-	1
9-5022173-T-G	c.186T>G	p.Y62*	Nonsense	3/25	-	1
9-5022174-G-A	c.187G>A	p.V63I	Missense	3/25	-	1
9-5022174-G-C	c.187G>C	p.V63L	Missense	3/25	-	1
9-5022174-G-T	c.187G>T	p.V63F	Missense	3/25	-	1
9-5022174-TG-T	c.187del	p.V63Lfs*25	Frameshift	3/25	-	1
9-5022175-T-C	c.188T>C	p.V63A	Missense	3/25	-	1
9-5022177-G-A	c.190G>A	p.A64T	Missense	3/25	-	2
9-5022177-G-ATCA	c.190delinsATCA	p.A64delinsIT	MultiAAMissense	3/25	-	1
9-5022177-GC-TA	c.190_191delinsTA	p.A64*	Nonsense	3/25	-	1
9-5022178-C-A	c.191C>A	p.A64E	Missense	3/25	-	1
9-5022178-CA-AC	c.191_192delinsAC	p.A64D	Missense	3/25	-	2
9-5022178-C-G	c.191C>G	p.A64G	Missense	3/25	-	1
9-5022178-C-T	c.191C>T	p.A64V	Missense	3/25	-	2
9-5022180-G-A	c.193G>A	p.E65K	Missense	3/25	-	2
9-5022180-G-C	c.193G>C	p.E65Q	Missense	3/25	-	2
9-5022182-A-C	c.195A>C	p.E65D	Missense	3/25	-	1
9-5022183-G-A	c.196G>A	p.E66K	Missense	3/25	-	3
9-5022183-G-C	c.196G>C	p.E66Q	Missense	3/25	-	2
9-5022183-G-T	c.196G>T	p.E66*	Nonsense	3/25	-	2
9-5022184-A-C	c.197A>C	p.E66A	Missense	3/25	-	1
9-5022184-A-G	c.197A>G	p.E66G	Missense	3/25	-	2
9-5022185-A-C	c.198A>C	p.E66D	Missense	3/25	-	2
9-5022185-A-T	c.198A>T	p.E66D	Missense	3/25	-	2
9-5022186-A-G	c.199A>G	p.I67V	Missense	3/25	-	1
9-5022186-A-T	c.199A>T	p.I67F	Missense	3/25	-	1
9-5022187-T-A	c.200T>A	p.I67N	Missense	3/25	-	1
9-5022187-T-TCGGAAC	c.201_202insGGAACC	p.I67_C68insGT	InFrameInsertion	3/25	-	1
9-5022188-C-A	c.201C>A	p.I67=	Synonymous	3/25	-	1
9-5022188-C-G	c.201C>G	p.I67M	Missense	3/25	-	3
9-5022188-C-T	c.201C>T	p.I67=	Synonymous	3/25	-	1
9-5022189-T-C	c.202T>C	p.C68R	Missense	3/25	-	1
9-5022192-A-C	c.205A>C	p.I69L	Missense	3/25	-	1
9-5022192-A-T	c.205A>T	p.I69F	Missense	3/25	-	1
9-5022193-T-C	c.206T>C	p.I69T	Missense	3/25	-	2
9-5022194-T-A	c.207T>A	p.I69=	Synonymous	3/25	-	1
9-5022194-T-C	c.207T>C	p.I69=	Synonymous	3/25	-	1
9-5022195-G-A	c.208G>A	p.A70T	Missense	3/25	-	1
9-5022195-GC-TG	c.208_209delinsTG	p.A70C	Missense	3/25	-	1
9-5022196-C-G	c.209C>G	p.A70G	Missense	3/25	-	1
9-5022196-C-T	c.209C>T	p.A70V	Missense	3/25	-	3
9-5022196-GC-G	c.209del	p.A70Vfs*18	Frameshift	3/25	-	1
9-5022198-GC-TG	c.211_212delinsTG	p.A71C	Missense	3/25	-	2
9-5022198-G-T	c.211G>T	p.A71S	Missense	3/25	-	2
9-5022199-C-T	c.212C>T	p.A71V	Missense	3/25	-	1
9-5022200-T-A	c.213T>A	p.A71=	Synonymous	3/25	-	1
9-5022200-T-C	c.213T>C	p.A71=	Synonymous	3/25	-	1
9-5022200-T-G	c.213T>G	p.A71=	Synonymous	3/25	-	1
9-5022201-T-C	c.214T>C	p.S72P	Missense	3/25	-	1
9-5022202-C-T	c.215C>T	p.S72F	Missense	3/25	-	1
9-5022204-A-G	c.217A>G	p.K73E	Missense	3/25	-	1
9-5022206-A-C	c.219A>C	p.K73N	Missense	3/25	-	1
9-5022206-A-T	c.219A>T	p.K73N	Missense	3/25	-	1
9-5022207-G-A	c.220G>A	p.A74T	Missense	3/25	-	1
9-5022207-GC-TT	c.220_221delinsTT	p.A74F	Missense	3/25	-	1
9-5022208-C-G	c.221C>G	p.A74G	Missense	3/25	-	1
9-5022208-C-T	c.221C>T	p.A74V	Missense	3/25	-	3
9-5022209-T-A	c.222T>A	p.A74=	Synonymous	3/25	-	1
9-5022209-T-C	c.222T>C	p.A74=	Synonymous	3/25	-	1
9-5022209-T-G	c.222T>G	p.A74=	Synonymous	3/25	-	1
9-5022208-C-CT	c.223dup	p.C75Lfs*9	Frameshift	3/25	-	1
9-5022211-G-T	c.224G>T	p.C75F	Missense	3/25	-	4
9-5022212-T-C	c.225T>C	p.C75=	Synonymous	3/25	-	1
9-5022213-G-A	c.226G>A	p.G76S	Missense	3/25	-	2
9-5022213-G-C	c.226G>C	p.G76R	Missense	3/25	-	1
9-5022213-G-T	c.226G>T	p.G76C	Missense	3/25	-	1
9-5022214-G-A	c.226+1G>A	-	IntronicSNV	-	3/24	1
9-5022214-G-T	c.226+1G>T	-	IntronicSNV	-	3/24	1
9-5022216-A-T	c.226+3A>T	-	IntronicSNV	-	3/24	1
9-5022232-C-A	c.226+19C>A	-	IntronicSNV	-	3/24	1
9-5022284-T-A	c.226+71T>A	-	IntronicSNV	-	3/24	1
9-5022807-C-T	c.226+594C>T	-	IntronicSNV	-	3/24	4
9-5023441-G-A	c.226+1228G>A	-	IntronicSNV	-	3/24	2
9-5023604-A-C	c.226+1391A>C	-	IntronicSNV	-	3/24	2
9-5023794-G-T	c.226+1581G>T	-	IntronicSNV	-	3/24	2
9-5024427-T-A	c.226+2214T>A	-	IntronicSNV	-	3/24	2
9-5025746-T-G	c.226+3533T>G	-	IntronicSNV	-	3/24	1
9-5026293-A-G	c.227-3490A>G	-	IntronicSNV	-	3/24	3
9-5028813-C-T	c.227-970C>T	-	IntronicSNV	-	3/24	2
9-5028921-C-G	c.227-862C>G	-	IntronicSNV	-	3/24	1
9-5029077-T-G	c.227-706T>G	-	IntronicSNV	-	3/24	1
9-5029785-A-G	c.229A>G	p.I77V	Missense	4/25	-	1
9-5029787-C-A	c.231C>A	p.I77=	Synonymous	4/25	-	4
9-5029787-C-T	c.231C>T	p.I77=	Synonymous	4/25	-	6
9-5029790-CACCTGT-C	c.234_239del	p.P79_V80del	InFrameDeletion	4/25	-	1
9-5029791-C-T	c.235C>T	p.P79S	Missense	4/25	-	1
9-5029792-C-T	c.236C>T	p.P79L	Missense	4/25	-	1
9-5029794-G-A	c.238G>A	p.V80M	Missense	4/25	-	3
9-5029794-G-C	c.238G>C	p.V80L	Missense	4/25	-	1
9-5029794-G-T	c.238G>T	p.V80L	Missense	4/25	-	1
9-5029794-GT-AG	c.238_239delinsAG	p.V80R	Missense	4/25	-	1
9-5029795-T-A	c.239T>A	p.V80E	Missense	4/25	-	3
9-5029795-T-C	c.239T>C	p.V80A	Missense	4/25	-	2
9-5029797-TA-GC	c.241_242delinsGC	p.Y81A	Missense	4/25	-	1
9-5029797-T-C	c.241T>C	p.Y81H	Missense	4/25	-	1
9-5029798-A-T	c.242A>T	p.Y81F	Missense	4/25	-	1
9-5029799-T-G	c.243T>G	p.Y81*	Nonsense	4/25	-	1
9-5029800-C-T	c.244C>T	p.H82Y	Missense	4/25	-	2
9-5029801-A-G	c.245A>G	p.H82R	Missense	4/25	-	2
9-5029801-A-T	c.245A>T	p.H82L	Missense	4/25	-	1
9-5029803-A-T	c.247A>T	p.N83Y	Missense	4/25	-	1
9-5029800-CATA-C	c.248_250del	p.N83del	InFrameDeletion	4/25	-	1
9-5029804-A-T	c.248A>T	p.N83I	Missense	4/25	-	1
9-5029803-AAT-A	c.250_251del	p.M84Vfs*6	Frameshift	4/25	-	1
9-5029808-G-A	c.252G>A	p.M84I	Missense	4/25	-	1
9-5029809-T-A	c.253T>A	p.F85I	Missense	4/25	-	1
9-5029809-T-C	c.253T>C	p.F85L	Missense	4/25	-	1
9-5029811-T-A	c.255T>A	p.F85L	Missense	4/25	-	1
9-5029811-T-G	c.255T>G	p.F85L	Missense	4/25	-	1
9-5029810-T-C	c.254T>C	p.F85S	Missense	4/25	-	1
9-5029813-C-T	c.257C>T	p.A86V	Missense	4/25	-	2
9-5029814-T-C	c.258T>C	p.A86=	Synonymous	4/25	-	1
9-5029815-TT-CC	c.259_260delinsCC	p.L87P	Missense	4/25	-	1
9-5029819-T-C	c.263T>C	p.M88T	Missense	4/25	-	1
9-5029820-G-T	c.264G>T	p.M88I	Missense	4/25	-	1
9-5029821-AG-GC	c.265_266delinsGC	p.S89A	Missense	4/25	-	1
9-5029821-A-T	c.265A>T	p.S89C	Missense	4/25	-	1
9-5029822-G-C	c.266G>C	p.S89T	Missense	4/25	-	2
9-5029824-G-A	c.268G>A	p.E90K	Missense	4/25	-	2
9-5029824-GAA-TTT	c.268_270delinsTTT	p.E90F	Missense	4/25	-	1
9-5029824-G-C	c.268G>C	p.E90Q	Missense	4/25	-	1
9-5029824-G-T	c.268G>T	p.E90*	Nonsense	4/25	-	4
9-5029825-A-C	c.269A>C	p.E90A	Missense	4/25	-	1
9-5029828-C-G	c.272C>G	p.T91R	Missense	4/25	-	1
9-5029828-C-T	c.272C>T	p.T91I	Missense	4/25	-	1
9-5029829-A-T	c.273A>T	p.T91=	Synonymous	4/25	-	1
9-5029830-G-A	c.274G>A	p.E92K	Missense	4/25	-	2
9-5029830-GAA-TTT	c.274_276delinsTTT	p.E92F	Missense	4/25	-	1
9-5029831-A-G	c.275A>G	p.E92G	Missense	4/25	-	1
9-5029831-A-T	c.275A>T	p.E92V	Missense	4/25	-	1
9-5029833-AGG-CAT	c.277_279delinsCAT	p.R93H	Missense	4/25	-	1
9-5029833-AG-TA	c.277_278delinsTA	p.R93*	Nonsense	4/25	-	2
9-5029834-G-A	c.278G>A	p.R93K	Missense	4/25	-	1
9-5029835-G-C	c.279G>C	p.R93S	Missense	4/25	-	1
9-5029835-G-T	c.279G>T	p.R93S	Missense	4/25	-	1
9-5029836-A-G	c.280A>G	p.I94V	Missense	4/25	-	1
9-5029838-C-G	c.282C>G	p.I94M	Missense	4/25	-	1
9-5029842-T-C	c.286T>C	p.Y96H	Missense	4/25	-	1
9-5029845-C-A	c.289C>A	p.P97T	Missense	4/25	-	2
9-5029845-C-G	c.289C>G	p.P97A	Missense	4/25	-	2
9-5029846-CA-AT	c.290_291delinsAT	p.P97H	Missense	4/25	-	1
9-5029847-A-G	c.291A>G	p.P97=	Synonymous	4/25	-	1
9-5029848-C-A	c.292C>A	p.P98T	Missense	4/25	-	1
9-5029848-C-G	c.292C>G	p.P98A	Missense	4/25	-	1
9-5029848-C-T	c.292C>T	p.P98S	Missense	4/25	-	1
9-5029851-A-T	c.295A>T	p.N99Y	Missense	4/25	-	1
9-5029852-A-G	c.296A>G	p.N99S	Missense	4/25	-	1
9-5029854-C-A	c.298C>A	p.H100N	Missense	4/25	-	2
9-5029854-CAT-TAA	c.298_300delinsTAA	p.H100*	Nonsense	4/25	-	1
9-5029854-C-CTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAAAGCCACTGCCAGAA	c.298_299insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAAAGCCACTGCCAGAA	p.H100delinsLFFFKQKTAYEILGCDWSSDVCSSDLKATARN	MultiAAMissense	4/25	-	1
9-5029854-C-T	c.298C>T	p.H100Y	Missense	4/25	-	1
9-5029857-GT-TG	c.301_302delinsTG	p.V101C	Missense	4/25	-	1
9-5029858-T-C	c.302T>C	p.V101A	Missense	4/25	-	1
9-5029859-C-A	c.303C>A	p.V101=	Synonymous	4/25	-	4
9-5029859-C-G	c.303C>G	p.V101=	Synonymous	4/25	-	1
9-5029859-C-T	c.303C>T	p.V101=	Synonymous	4/25	-	2
9-5029860-T-C	c.304T>C	p.F102L	Missense	4/25	-	1
9-5029859-C-CT	c.305dup	p.H103Pfs*4	Frameshift	4/25	-	1
9-5029861-T-G	c.305T>G	p.F102C	Missense	4/25	-	1
9-5029862-C-T	c.306C>T	p.F102=	Synonymous	4/25	-	1
9-5029862-TCC-T	c.306_307del	p.F102Lfs*4	Frameshift	4/25	-	1
9-5029863-C-T	c.307C>T	p.H103Y	Missense	4/25	-	4
9-5029864-A-G	c.308A>G	p.H103R	Missense	4/25	-	2
9-5029867-T-A	c.311T>A	p.I104K	Missense	4/25	-	1
9-5029867-T-C	c.311T>C	p.I104T	Missense	4/25	-	1
9-5029869-G-A	c.313G>A	p.D105N	Missense	4/25	-	1
9-5029869-G-C	c.313G>C	p.D105H	Missense	4/25	-	1
9-5029869-G-T	c.313G>T	p.D105Y	Missense	4/25	-	1
9-5029871-T-C	c.315T>C	p.D105=	Synonymous	4/25	-	1
9-5029872-G-A	c.316G>A	p.E106K	Missense	4/25	-	1
9-5029873-A-G	c.317A>G	p.E106G	Missense	4/25	-	1
9-5029873-A-T	c.317A>T	p.E106V	Missense	4/25	-	4
9-5029878-A-G	c.322A>G	p.T108A	Missense	4/25	-	7
9-5029878-A-T	c.322A>T	p.T108S	Missense	4/25	-	1
9-5029881-A-G	c.325A>G	p.R109G	Missense	4/25	-	2
9-5029884-C-A	c.328C>A	p.H110N	Missense	4/25	-	1
9-5029884-C-T	c.328C>T	p.H110Y	Missense	4/25	-	3
9-5029885-A-C	c.329A>C	p.H110P	Missense	4/25	-	1
9-5029885-A-G	c.329A>G	p.H110R	Missense	4/25	-	1
9-5029886-T-A	c.330T>A	p.H110Q	Missense	4/25	-	1
9-5029887-AA-GG	c.331_332delinsGG	p.N111G	Missense	4/25	-	1
9-5029888-A-C	c.332A>C	p.N111T	Missense	4/25	-	1
9-5029888-A-G	c.332A>G	p.N111S	Missense	4/25	-	2
9-5029888-A-T	c.332A>T	p.N111I	Missense	4/25	-	1
9-5029890-G-C	c.334G>C	p.V112L	Missense	4/25	-	1
9-5029890-G-T	c.334G>T	p.V112L	Missense	4/25	-	1
9-5029891-T-C	c.335T>C	p.V112A	Missense	4/25	-	1
9-5029893-C-G	c.337C>G	p.L113V	Missense	4/25	-	10
9-5029893-C-T	c.337C>T	p.L113F	Missense	4/25	-	1
9-5029895-C-T	c.339C>T	p.L113=	Synonymous	4/25	-	1
9-5029896-TA-GC	c.340_341delinsGC	p.Y114A	Missense	4/25	-	8
9-5029897-A-G	c.341A>G	p.Y114C	Missense	4/25	-	7
9-5029897-A-T	c.341A>T	p.Y114F	Missense	4/25	-	1
9-5029898-C-A	c.342C>A	p.Y114*	Nonsense	4/25	-	1
9-5029898-C-CT	c.342_343insT	p.R115*	Nonsense	4/25	-	1
9-5029899-AGA-CAT	c.343_345delinsCAT	p.R115H	Missense	4/25	-	1
9-5029899-AGA-TGG	c.343_345delinsTGG	p.R115W	Missense	4/25	-	1
9-5029899-AG-CA	c.343_344delinsCA	p.R115Q	Missense	4/25	-	1
9-5029900-G-A	c.344G>A	p.R115K	Missense	4/25	-	1
9-5029900-G-T	c.344G>T	p.R115I	Missense	4/25	-	15
9-5029905-A-G	c.349A>G	p.R117G	Missense	4/25	-	2
9-5029905-AG-CT	c.349_350inv	p.R117L	Missense	4/25	-	2
9-5029906-G-A	c.350G>A	p.R117K	Missense	4/25	-	1
9-5029908-T-G	c.350+2T>G	-	IntronicSNV	-	4/24	1
9-5029941-A-T	c.350+35A>T	-	IntronicSNV	-	4/24	1
9-5029959-AATT-A	c.350+56_350+58del	-	IntronicDeletion	-	4/24	1
9-5030080-T-C	c.350+174T>C	-	IntronicSNV	-	4/24	1
9-5033677-G-C	c.350+3771G>C	-	IntronicSNV	-	4/24	2
9-5033882-C-A	c.350+3976C>A	-	IntronicSNV	-	4/24	1
9-5034275-T-C	c.350+4369T>C	-	IntronicSNV	-	4/24	1
9-5034275-T-G	c.350+4369T>G	-	IntronicSNV	-	4/24	1
9-5034280-A-C	c.350+4374A>C	-	IntronicSNV	-	4/24	2
9-5034612-A-C	c.350+4706A>C	-	IntronicSNV	-	4/24	1
9-5035586-A-T	c.350+5680A>T	-	IntronicSNV	-	4/24	1
9-5036219-G-A	c.350+6313G>A	-	IntronicSNV	-	4/24	2
9-5037002-T-A	c.350+7096T>A	-	IntronicSNV	-	4/24	2
9-5037180-T-C	c.351-7223T>C	-	IntronicSNV	-	4/24	1
9-5037393-A-C	c.351-7010A>C	-	IntronicSNV	-	4/24	2
9-5037694-C-G	c.351-6709C>G	-	IntronicSNV	-	4/24	1
9-5037694-C-T	c.351-6709C>T	-	IntronicSNV	-	4/24	1
9-5038164-G-A	c.351-6239G>A	-	IntronicSNV	-	4/24	1
9-5038180-C-A	c.351-6223C>A	-	IntronicSNV	-	4/24	1
9-5038180-C-T	c.351-6223C>T	-	IntronicSNV	-	4/24	1
9-5039652-A-C	c.351-4751A>C	-	IntronicSNV	-	4/24	1
9-5039652-A-T	c.351-4751A>T	-	IntronicSNV	-	4/24	1
9-5040080-A-G	c.351-4323A>G	-	IntronicSNV	-	4/24	1
9-5040163-G-A	c.351-4240G>A	-	IntronicSNV	-	4/24	4
9-5040203-T-A	c.351-4200T>A	-	IntronicSNV	-	4/24	8
9-5040786-T-A	c.351-3617T>A	-	IntronicSNV	-	4/24	1
9-5041680-T-G	c.351-2723T>G	-	IntronicSNV	-	4/24	1
9-5041690-C-G	c.351-2713C>G	-	IntronicSNV	-	4/24	3
9-5041690-C-T	c.351-2713C>T	-	IntronicSNV	-	4/24	3
9-5041692-G-T	c.351-2711G>T	-	IntronicSNV	-	4/24	3
9-5041756-C-G	c.351-2647C>G	-	IntronicSNV	-	4/24	1
9-5042046-C-T	c.351-2357C>T	-	IntronicSNV	-	4/24	3
9-5042082-G-A	c.351-2321G>A	-	IntronicSNV	-	4/24	1
9-5042226-C-T	c.351-2177C>T	-	IntronicSNV	-	4/24	1
9-5042237-C-A	c.351-2166C>A	-	IntronicSNV	-	4/24	1
9-5042237-C-T	c.351-2166C>T	-	IntronicSNV	-	4/24	1
9-5042757-G-A	c.351-1646G>A	-	IntronicSNV	-	4/24	1
9-5042981-G-C	c.351-1422G>C	-	IntronicSNV	-	4/24	3
9-5042981-G-T	c.351-1422G>T	-	IntronicSNV	-	4/24	3
9-5043152-T-C	c.351-1251T>C	-	IntronicSNV	-	4/24	1
9-5043156-C-T	c.351-1247C>T	-	IntronicSNV	-	4/24	4
9-5043688-C-G	c.351-715C>G	-	IntronicSNV	-	4/24	1
9-5043767-A-T	c.351-636A>T	-	IntronicSNV	-	4/24	1
9-5044403-A-C	c.351A>C	p.R117S	Missense	5/25	-	2
9-5044403-A-T	c.351A>T	p.R117S	Missense	5/25	-	1
9-5044404-T-C	c.352T>C	p.F118L	Missense	5/25	-	5
9-5044406-T-A	c.354T>A	p.F118L	Missense	5/25	-	3
9-5044406-T-G	c.354T>G	p.F118L	Missense	5/25	-	3
9-5044407-TAC-GAG	c.355_357delinsGAG	p.Y119E	Missense	5/25	-	5
9-5044407-TA-GC	c.355_356delinsGC	p.Y119A	Missense	5/25	-	1
9-5044407-T-C	c.355T>C	p.Y119H	Missense	5/25	-	1
9-5044408-A-T	c.356A>T	p.Y119F	Missense	5/25	-	2
9-5044411-T-G	c.359T>G	p.F120C	Missense	5/25	-	1
9-5044413-C-G	c.361C>G	p.P121A	Missense	5/25	-	2
9-5044413-C-T	c.361C>T	p.P121S	Missense	5/25	-	2
9-5044414-C-G	c.362C>G	p.P121R	Missense	5/25	-	1
9-5044414-C-T	c.362C>T	p.P121L	Missense	5/25	-	3
9-5044416-C-A	c.364C>A	p.R122S	Missense	5/25	-	1
9-5044416-C-G	c.364C>G	p.R122G	Missense	5/25	-	1
9-5044416-CGT-TGG	c.364_366delinsTGG	p.R122W	Missense	5/25	-	1
9-5044416-C-T	c.364C>T	p.R122C	Missense	5/25	-	1
9-5044416-C-TTTT	c.364delinsTTTT	p.R122delinsFC	MultiAAMissense	5/25	-	1
9-5044417-G-A	c.365G>A	p.R122H	Missense	5/25	-	7
9-5044417-G-C	c.365G>C	p.R122P	Missense	5/25	-	2
9-5044417-G-T	c.365G>T	p.R122L	Missense	5/25	-	7
9-5044417-GT-AA	c.365_366delinsAA	p.R122Q	Missense	5/25	-	1
9-5044418-T-C	c.366T>C	p.R122=	Synonymous	5/25	-	1
9-5044419-TTG-T	c.367_368del	p.W123Vfs*18	Frameshift	5/25	-	1
9-5044420-G-A	c.368G>A	p.W123*	Nonsense	5/25	-	1
9-5044420-G-T	c.368G>T	p.W123L	Missense	5/25	-	1
9-5044422-T-A	c.370T>A	p.Y124N	Missense	5/25	-	1
9-5044422-T-C	c.370T>C	p.Y124H	Missense	5/25	-	1
9-5044422-T-G	c.370T>G	p.Y124D	Missense	5/25	-	1
9-5044423-A-G	c.371A>G	p.Y124C	Missense	5/25	-	2
9-5044423-A-T	c.371A>T	p.Y124F	Missense	5/25	-	1
9-5044425-T-A	c.373T>A	p.C125S	Missense	5/25	-	1
9-5044426-G-C	c.374G>C	p.C125S	Missense	5/25	-	1
9-5044427-C-A	c.375C>A	p.C125*	Nonsense	5/25	-	1
9-5044427-C-T	c.375C>T	p.C125=	Synonymous	5/25	-	1
9-5044428-A-G	c.376A>G	p.S126G	Missense	5/25	-	3
9-5044428-A-T	c.376A>T	p.S126C	Missense	5/25	-	1
9-5044429-G-A	c.377G>A	p.S126N	Missense	5/25	-	7
9-5044430-T-A	c.378T>A	p.S126R	Missense	5/25	-	1
9-5044431-G-A	c.379G>A	p.G127S	Missense	5/25	-	1
9-5044431-G-T	c.379G>T	p.G127C	Missense	5/25	-	2
9-5044432-G-A	c.380G>A	p.G127D	Missense	5/25	-	17
9-5044432-G-C	c.380G>C	p.G127A	Missense	5/25	-	3
9-5044434-AG-CC	c.382_383delinsCC	p.S128P	Missense	5/25	-	3
9-5044434-AG-GC	c.382_383delinsGC	p.S128A	Missense	5/25	-	1
9-5044434-AG-TA	c.382_383delinsTA	p.S128Y	Missense	5/25	-	1
9-5044434-A-T	c.382A>T	p.S128C	Missense	5/25	-	2
9-5044434-A-C	c.382A>C	p.S128R	Missense	5/25	-	2
9-5044436-C-A	c.384C>A	p.S128R	Missense	5/25	-	2
9-5044436-C-G	c.384C>G	p.S128R	Missense	5/25	-	2
9-5044438-A-G	c.386A>G	p.N129S	Missense	5/25	-	1
9-5044439-C-A	c.387C>A	p.N129K	Missense	5/25	-	1
9-5044439-C-G	c.387C>G	p.N129K	Missense	5/25	-	1
9-5044440-A-G	c.388A>G	p.R130G	Missense	5/25	-	4
9-5044440-AGA-CAT	c.388_390delinsCAT	p.R130H	Missense	5/25	-	2
9-5044440-AG-CA	c.388_389delinsCA	p.R130Q	Missense	5/25	-	5
9-5044440-A-T	c.388A>T	p.R130*	Nonsense	5/25	-	2
9-5044441-G-A	c.389G>A	p.R130K	Missense	5/25	-	9
9-5044441-G-C	c.389G>C	p.R130T	Missense	5/25	-	1
9-5044443-G-C	c.391G>C	p.A131P	Missense	5/25	-	2
9-5044444-C-A	c.392C>A	p.A131D	Missense	5/25	-	1
9-5044444-C-T	c.392C>T	p.A131V	Missense	5/25	-	1
9-5044445-C-A	c.393C>A	p.A131=	Synonymous	5/25	-	1
9-5044445-C-G	c.393C>G	p.A131=	Synonymous	5/25	-	1
9-5044445-C-T	c.393C>T	p.A131=	Synonymous	5/25	-	1
9-5044446-TA-GC	c.394_395delinsGC	p.Y132A	Missense	5/25	-	1
9-5044446-T-G	c.394T>G	p.Y132D	Missense	5/25	-	1
9-5044447-A-G	c.395A>G	p.Y132C	Missense	5/25	-	1
9-5044447-A-T	c.395A>T	p.Y132F	Missense	5/25	-	3
9-5044448-T-A	c.396T>A	p.Y132*	Nonsense	5/25	-	8
9-5044448-T-G	c.396T>G	p.Y132*	Nonsense	5/25	-	10
9-5044449-C-A	c.397C>A	p.R133=	Synonymous	5/25	-	1
9-5044449-CG-AA	c.397_398delinsAA	p.R133K	Missense	5/25	-	2
9-5044449-C-T	c.397C>T	p.R133W	Missense	5/25	-	9
9-5044451-G-A	c.399G>A	p.R133=	Synonymous	5/25	-	2
9-5044451-G-C	c.399G>C	p.R133=	Synonymous	5/25	-	1
9-5044451-G-T	c.399G>T	p.R133=	Synonymous	5/25	-	1
9-5044450-G-A	c.398G>A	p.R133Q	Missense	5/25	-	10
9-5044450-G-C	c.398G>C	p.R133P	Missense	5/25	-	3
9-5044450-G-T	c.398G>T	p.R133L	Missense	5/25	-	1
9-5044452-C-T	c.400C>T	p.H134Y	Missense	5/25	-	1
9-5044453-A-G	c.401A>G	p.H134R	Missense	5/25	-	4
9-5044455-GGA-TGT	c.403_405delinsTGT	p.G135C	Missense	5/25	-	1
9-5044455-G-T	c.403G>T	p.G135*	Nonsense	5/25	-	1
9-5044456-G-A	c.404G>A	p.G135E	Missense	5/25	-	2
9-5044456-G-T	c.404G>T	p.G135V	Missense	5/25	-	1
9-5044458-A-T	c.406A>T	p.I136L	Missense	5/25	-	1
9-5044460-A-G	c.408A>G	p.I136M	Missense	5/25	-	1
9-5044461-T-C	c.409T>C	p.S137P	Missense	5/25	-	1
9-5044461-TC-CT	c.409_410delinsCT	p.S137L	Missense	5/25	-	1
9-5044461-T-G	c.409T>G	p.S137A	Missense	5/25	-	1
9-5044462-C-A	c.410C>A	p.S137Y	Missense	5/25	-	1
9-5044462-C-CT	c.411dup	p.R138Sfs*4	Frameshift	5/25	-	1
9-5044464-C-A	c.412C>A	p.R138=	Synonymous	5/25	-	1
9-5044464-C-G	c.412C>G	p.R138G	Missense	5/25	-	1
9-5044464-CG-AC	c.412_413delinsAC	p.R138T	Missense	5/25	-	1
9-5044464-CGA-TGT	c.412_414delinsTGT	p.R138C	Missense	5/25	-	1
9-5044464-C-T	c.412C>T	p.R138*	Nonsense	5/25	-	4
9-5044465-G-A	c.413G>A	p.R138Q	Missense	5/25	-	12
9-5044465-G-C	c.413G>C	p.R138P	Missense	5/25	-	5
9-5044468-G-T	c.416G>T	p.G139V	Missense	5/25	-	3
9-5044473-G-A	c.421G>A	p.E141K	Missense	5/25	-	1
9-5044476-G-A	c.424G>A	p.A142T	Missense	5/25	-	1
9-5044479-C-T	c.427C>T	p.P143S	Missense	5/25	-	6
9-5044480-C-A	c.428C>A	p.P143H	Missense	5/25	-	1
9-5044480-C-G	c.428C>G	p.P143R	Missense	5/25	-	1
9-5044482-C-G	c.430C>G	p.L144V	Missense	5/25	-	2
9-5044482-C-T	c.430C>T	p.L144F	Missense	5/25	-	2
9-5044483-T-C	c.431T>C	p.L144P	Missense	5/25	-	1
9-5044483-TT-AA	c.431_432inv	p.L144Q	Missense	5/25	-	1
9-5044485-C-T	c.433C>T	p.L145F	Missense	5/25	-	3
9-5044486-TT-AA	c.434_435inv	p.L145Q	Missense	5/25	-	1
9-5044488-G-A	c.436G>A	p.D146N	Missense	5/25	-	3
9-5044488-G-C	c.436G>C	p.D146H	Missense	5/25	-	5
9-5044490-T-A	c.438T>A	p.D146E	Missense	5/25	-	1
9-5044491-G-A	c.439G>A	p.D147N	Missense	5/25	-	1
9-5044493-CTT-C	c.443_444del	p.F148Cfs*12	Frameshift	5/25	-	1
9-5044497-G-A	c.445G>A	p.V149I	Missense	5/25	-	1
9-5044497-G-C	c.445G>C	p.V149L	Missense	5/25	-	2
9-5044497-G-T	c.445G>T	p.V149F	Missense	5/25	-	1
9-5044497-GTC-ATG	c.445_447delinsATG	p.V149M	Missense	5/25	-	2
9-5044498-T-C	c.446T>C	p.V149A	Missense	5/25	-	2
9-5044502-G-A	c.450G>A	p.M150I	Missense	5/25	-	2
9-5044502-G-C	c.450G>C	p.M150I	Missense	5/25	-	1
9-5044502-G-T	c.450G>T	p.M150I	Missense	5/25	-	1
9-5044503-TC-CT	c.451_452delinsCT	p.S151L	Missense	5/25	-	1
9-5044503-T-G	c.451T>G	p.S151A	Missense	5/25	-	1
9-5044504-C-T	c.452C>T	p.S151F	Missense	5/25	-	1
9-5044504-CT-GG	c.452_453delinsGG	p.S151W	Missense	5/25	-	1
9-5044507-A-C	c.455A>C	p.Y152S	Missense	5/25	-	2
9-5044507-TA-T	c.455del	p.Y152Sfs*15	Frameshift	5/25	-	1
9-5044512-T-C	c.460T>C	p.F154L	Missense	5/25	-	1
9-5044513-T-G	c.461T>G	p.F154C	Missense	5/25	-	1
9-5044516-C-T	c.464C>T	p.A155V	Missense	5/25	-	1
9-5044518-C-G	c.466C>G	p.Q156E	Missense	5/25	-	1
9-5044519-A-G	c.467A>G	p.Q156R	Missense	5/25	-	1
9-5044540-C-T	c.468+20C>T	-	IntronicSNV	-	5/24	1
9-5045328-C-G	c.468+808C>G	-	IntronicSNV	-	5/24	1
9-5045328-C-T	c.468+808C>T	-	IntronicSNV	-	5/24	1
9-5045658-G-A	c.468+1138G>A	-	IntronicSNV	-	5/24	2
9-5045695-C-T	c.468+1175C>T	-	IntronicSNV	-	5/24	1
9-5045916-C-A	c.468+1396C>A	-	IntronicSNV	-	5/24	2
9-5045916-C-T	c.468+1396C>T	-	IntronicSNV	-	5/24	2
9-5046548-A-C	c.468+2028A>C	-	IntronicSNV	-	5/24	2
9-5046881-T-A	c.468+2361T>A	-	IntronicSNV	-	5/24	2
9-5046881-T-C	c.468+2361T>C	-	IntronicSNV	-	5/24	2
9-5046935-T-C	c.468+2415T>C	-	IntronicSNV	-	5/24	1
9-5048213-C-T	c.469-2473C>T	-	IntronicSNV	-	5/24	1
9-5048814-G-A	c.469-1872G>A	-	IntronicSNV	-	5/24	2
9-5049065-G-T	c.469-1621G>T	-	IntronicSNV	-	5/24	4
9-5049092-G-T	c.469-1594G>T	-	IntronicSNV	-	5/24	2
9-5050307-C-T	c.469-379C>T	-	IntronicSNV	-	5/24	1
9-5050369-G-C	c.469-317G>C	-	IntronicSNV	-	5/24	3
9-5050687-G-A	c.470G>A	p.W157*	Nonsense	6/25	-	3
9-5050688-G-A	c.471G>A	p.W157*	Nonsense	6/25	-	2
9-5050688-G-C	c.471G>C	p.W157C	Missense	6/25	-	1
9-5050689-C-A	c.472C>A	p.R158=	Synonymous	6/25	-	1
9-5050689-C-G	c.472C>G	p.R158G	Missense	6/25	-	2
9-5050689-C-T	c.472C>T	p.R158W	Missense	6/25	-	7
9-5050691-G-A	c.474G>A	p.R158=	Synonymous	6/25	-	1
9-5050691-G-C	c.474G>C	p.R158=	Synonymous	6/25	-	1
9-5050691-G-T	c.474G>T	p.R158=	Synonymous	6/25	-	2
9-5050690-G-A	c.473G>A	p.R158Q	Missense	6/25	-	5
9-5050690-GG-AT	c.473_474delinsAT	p.R158H	Missense	6/25	-	3
9-5050690-G-T	c.473G>T	p.R158L	Missense	6/25	-	2
9-5050692-C-T	c.475C>T	p.H159Y	Missense	6/25	-	2
9-5050695-G-C	c.478G>C	p.D160H	Missense	6/25	-	2
9-5050696-A-T	c.479A>T	p.D160V	Missense	6/25	-	2
9-5050701-G-A	c.484G>A	p.V162M	Missense	6/25	-	1
9-5050701-G-C	c.484G>C	p.V162L	Missense	6/25	-	2
9-5050701-G-T	c.484G>T	p.V162L	Missense	6/25	-	3
9-5050702-T-G	c.485T>G	p.V162G	Missense	6/25	-	1
9-5050704-C-G	c.487C>G	p.H163D	Missense	6/25	-	1
9-5050704-C-T	c.487C>T	p.H163Y	Missense	6/25	-	1
9-5050705-A-G	c.488A>G	p.H163R	Missense	6/25	-	1
9-5050705-A-T	c.488A>T	p.H163L	Missense	6/25	-	1
9-5050706-C-A	c.489C>A	p.H163Q	Missense	6/25	-	1
9-5050706-C-T	c.489C>T	p.H163=	Synonymous	6/25	-	36
9-5050707-G-A	c.490G>A	p.G164R	Missense	6/25	-	3
9-5050707-G-C	c.490G>C	p.G164R	Missense	6/25	-	1
9-5050707-G-T	c.490G>T	p.G164*	Nonsense	6/25	-	1
9-5050708-G-A	c.491G>A	p.G164E	Missense	6/25	-	1
9-5050708-G-C	c.491G>C	p.G164A	Missense	6/25	-	2
9-5050708-G-T	c.491G>T	p.G164V	Missense	6/25	-	1
9-5050710-T-C	c.493T>C	p.W165R	Missense	6/25	-	1
9-5050711-G-A	c.494G>A	p.W165*	Nonsense	6/25	-	1
9-5050712-G-A	c.495G>A	p.W165*	Nonsense	6/25	-	1
9-5050712-G-C	c.495G>C	p.W165C	Missense	6/25	-	1
9-5050712-G-T	c.495G>T	p.W165C	Missense	6/25	-	1
9-5050713-A-G	c.496A>G	p.I166V	Missense	6/25	-	2
9-5050713-ATA-TTT	c.496_498delinsTTT	p.I166F	Missense	6/25	-	1
9-5050714-T-C	c.497T>C	p.I166T	Missense	6/25	-	5
9-5050715-A-C	c.498A>C	p.I166=	Synonymous	6/25	-	1
9-5050715-A-G	c.498A>G	p.I166M	Missense	6/25	-	1
9-5050715-A-T	c.498A>T	p.I166=	Synonymous	6/25	-	1
9-5050716-AA-GC	c.499_500delinsGC	p.K167A	Missense	6/25	-	1
9-5050716-A-C	c.499A>C	p.K167Q	Missense	6/25	-	1
9-5050717-AA-TG	c.500_501delinsTG	p.K167M	Missense	6/25	-	1
9-5050717-A-G	c.500A>G	p.K167R	Missense	6/25	-	1
9-5050714-TA-T	c.501del	p.V168Yfs*3	Frameshift	6/25	-	1
9-5050718-A-C	c.501A>C	p.K167N	Missense	6/25	-	1
9-5050718-A-T	c.501A>T	p.K167N	Missense	6/25	-	1
9-5050719-G-C	c.502G>C	p.V168L	Missense	6/25	-	1
9-5050719-G-T	c.502G>T	p.V168L	Missense	6/25	-	1
9-5050719-GTA-ATG	c.502_504delinsATG	p.V168M	Missense	6/25	-	1
9-5050720-T-C	c.503T>C	p.V168A	Missense	6/25	-	1
9-5050723-C-A	c.506C>A	p.P169H	Missense	6/25	-	2
9-5050725-G-A	c.508G>A	p.V170M	Missense	6/25	-	1
9-5050725-GTG-ATC	c.508_510delinsATC	p.V170I	Missense	6/25	-	1
9-5050728-A-T	c.511A>T	p.T171S	Missense	6/25	-	1
9-5050729-C-T	c.512C>T	p.T171I	Missense	6/25	-	1
9-5050731-CA-GC	c.514_515delinsGC	p.H172A	Missense	6/25	-	1
9-5050731-C-T	c.514C>T	p.H172Y	Missense	6/25	-	1
9-5050732-A-G	c.515A>G	p.H172R	Missense	6/25	-	1
9-5050732-A-T	c.515A>T	p.H172L	Missense	6/25	-	1
9-5050734-G-A	c.517G>A	p.E173K	Missense	6/25	-	2
9-5050735-A-G	c.518A>G	p.E173G	Missense	6/25	-	2
9-5050737-A-G	c.520A>G	p.T174A	Missense	6/25	-	2
9-5050738-CA-TG	c.521_522inv	p.T174M	Missense	6/25	-	1
9-5050740-C-G	c.523C>G	p.Q175E	Missense	6/25	-	1
9-5050740-C-T	c.523C>T	p.Q175*	Nonsense	6/25	-	1
9-5050741-A-C	c.524A>C	p.Q175P	Missense	6/25	-	1
9-5050742-G-A	c.525G>A	p.Q175=	Synonymous	6/25	-	1
9-5050742-G-C	c.525G>C	p.Q175H	Missense	6/25	-	2
9-5050743-G-A	c.526G>A	p.E176K	Missense	6/25	-	1
9-5050743-G-C	c.526G>C	p.E176Q	Missense	6/25	-	1
9-5050743-G-T	c.526G>T	p.E176*	Nonsense	6/25	-	1
9-5050744-A-G	c.527A>G	p.E176G	Missense	6/25	-	1
9-5050744-A-T	c.527A>T	p.E176V	Missense	6/25	-	1
9-5050746-G-A	c.529G>A	p.E177K	Missense	6/25	-	1
9-5050746-GAA-TGT	c.529_531delinsTGT	p.E177C	Missense	6/25	-	1
9-5050746-G-C	c.529G>C	p.E177Q	Missense	6/25	-	2
9-5050746-G-T	c.529G>T	p.E177*	Nonsense	6/25	-	1
9-5050747-A-G	c.530A>G	p.E177G	Missense	6/25	-	1
9-5050750-G-T	c.533G>T	p.C178F	Missense	6/25	-	1
9-5050753-T-C	c.536T>C	p.L179P	Missense	6/25	-	2
9-5050755-G-A	c.538G>A	p.G180R	Missense	6/25	-	2
9-5050755-G-T	c.538G>T	p.G180W	Missense	6/25	-	1
9-5050756-G-C	c.539G>C	p.G180A	Missense	6/25	-	7
9-5050758-A-G	c.541A>G	p.M181V	Missense	6/25	-	1
9-5050757-G-GATTC	c.542_543insTCAT	p.M181Ifs*23	Frameshift	6/25	-	1
9-5050759-T-G	c.542T>G	p.M181R	Missense	6/25	-	1
9-5050760-G-C	c.543G>C	p.M181I	Missense	6/25	-	1
9-5050761-G-A	c.544G>A	p.A182T	Missense	6/25	-	1
9-5050762-C-T	c.545C>T	p.A182V	Missense	6/25	-	1
9-5050764-G-A	c.547G>A	p.V183M	Missense	6/25	-	1
9-5050764-GTG-ATC	c.547_549delinsATC	p.V183I	Missense	6/25	-	2
9-5050765-T-C	c.548T>C	p.V183A	Missense	6/25	-	1
9-5050765-TG-AC	c.548_549delinsAC	p.V183D	Missense	6/25	-	1
9-5050767-GTT-G	c.550_551del	p.L184Rfs*18	Frameshift	6/25	-	1
9-5050767-TT-GC	c.550_551delinsGC	p.L184A	Missense	6/25	-	1
9-5050769-A-C	c.552A>C	p.L184F	Missense	6/25	-	1
9-5050769-A-T	c.552A>T	p.L184F	Missense	6/25	-	1
9-5050770-G-A	c.553G>A	p.D185N	Missense	6/25	-	1
9-5050770-G-C	c.553G>C	p.D185H	Missense	6/25	-	2
9-5050770-G-T	c.553G>T	p.D185Y	Missense	6/25	-	2
9-5050771-A-G	c.554A>G	p.D185G	Missense	6/25	-	3
9-5050774-T-C	c.557T>C	p.M186T	Missense	6/25	-	1
9-5050775-G-A	c.558G>A	p.M186I	Missense	6/25	-	1
9-5050775-G-C	c.558G>C	p.M186I	Missense	6/25	-	1
9-5050775-G-T	c.558G>T	p.M186I	Missense	6/25	-	1
9-5050779-A-G	c.562A>G	p.R188G	Missense	6/25	-	2
9-5050780-G-A	c.563G>A	p.R188K	Missense	6/25	-	1
9-5050780-G-T	c.563G>T	p.R188I	Missense	6/25	-	1
9-5050779-A-C	c.562A>C	p.R188=	Synonymous	6/25	-	1
9-5050781-A-G	c.564A>G	p.R188=	Synonymous	6/25	-	1
9-5050782-A-C	c.565A>C	p.I189L	Missense	6/25	-	2
9-5050783-T-A	c.566T>A	p.I189K	Missense	6/25	-	1
9-5050784-A-G	c.567A>G	p.I189M	Missense	6/25	-	1
9-5050785-G-A	c.568G>A	p.A190T	Missense	6/25	-	1
9-5050785-G-C	c.568G>C	p.A190P	Missense	6/25	-	1
9-5050786-C-A	c.569C>A	p.A190D	Missense	6/25	-	1
9-5050788-A-C	c.571A>C	p.K191Q	Missense	6/25	-	3
9-5050789-A-G	c.572A>G	p.K191R	Missense	6/25	-	1
9-5050790-A-G	c.573A>G	p.K191=	Synonymous	6/25	-	1
9-5050791-G-T	c.574G>T	p.E192*	Nonsense	6/25	-	4
9-5050793-A-C	c.576A>C	p.E192D	Missense	6/25	-	1
9-5050793-A-T	c.576A>T	p.E192D	Missense	6/25	-	1
9-5050794-A-C	c.577A>C	p.N193H	Missense	6/25	-	1
9-5050795-A-C	c.578A>C	p.N193T	Missense	6/25	-	1
9-5050796-C-A	c.579C>A	p.N193K	Missense	6/25	-	1
9-5050797-G-A	c.580G>A	p.D194N	Missense	6/25	-	3
9-5050797-G-T	c.580G>T	p.D194Y	Missense	6/25	-	3
9-5050798-A-C	c.581A>C	p.D194A	Missense	6/25	-	2
9-5050801-A-T	c.584A>T	p.Q195L	Missense	6/25	-	1
9-5050802-A-G	c.585A>G	p.Q195=	Synonymous	6/25	-	1
9-5050803-AC-TG	c.586_587delinsTG	p.T196C	Missense	6/25	-	1
9-5050803-A-G	c.586A>G	p.T196A	Missense	6/25	-	1
9-5050804-C-T	c.587C>T	p.T196I	Missense	6/25	-	1
9-5050803-AC-A	c.590del	p.P197Hfs*28	Frameshift	6/25	-	1
9-5050807-C-T	c.590C>T	p.P197L	Missense	6/25	-	1
9-5050809-C-T	c.592C>T	p.L198=	Synonymous	6/25	-	1
9-5050811-G-A	c.594G>A	p.L198=	Synonymous	6/25	-	2
9-5050811-G-C	c.594G>C	p.L198=	Synonymous	6/25	-	1
9-5050811-G-T	c.594G>T	p.L198=	Synonymous	6/25	-	1
9-5050812-G-A	c.595G>A	p.A199T	Missense	6/25	-	1
9-5050813-C-G	c.596C>G	p.A199G	Missense	6/25	-	1
9-5050813-C-T	c.596C>T	p.A199V	Missense	6/25	-	1
9-5050814-C-T	c.597C>T	p.A199=	Synonymous	6/25	-	2
9-5050815-A-T	c.598A>T	p.I200F	Missense	6/25	-	1
9-5050816-T-C	c.599T>C	p.I200T	Missense	6/25	-	1
9-5050817-C-A	c.600C>A	p.I200=	Synonymous	6/25	-	1
9-5050817-C-T	c.600C>T	p.I200=	Synonymous	6/25	-	1
9-5050819-A-G	c.602A>G	p.Y201C	Missense	6/25	-	3
9-5050819-A-T	c.602A>T	p.Y201F	Missense	6/25	-	1
9-5050824-T-A	c.607T>A	p.S203T	Missense	6/25	-	2
9-5050825-C-T	c.608C>T	p.S203F	Missense	6/25	-	1
9-5050826-CT-C	c.609del	p.I204Sfs*21	Frameshift	6/25	-	1
9-5050829-C-G	c.612C>G	p.I204M	Missense	6/25	-	2
9-5050830-A-G	c.613A>G	p.S205G	Missense	6/25	-	2
9-5050830-AG-CC	c.613_614delinsCC	p.S205P	Missense	6/25	-	1
9-5050830-AG-CT	c.613_614inv	p.S205L	Missense	6/25	-	1
9-5050830-AG-GC	c.613_614delinsGC	p.S205A	Missense	6/25	-	1
9-5050831-G-A	c.614G>A	p.S205N	Missense	6/25	-	1
9-5050846-C-T	c.614+15C>T	-	IntronicSNV	-	6/24	1
9-5050879-T-C	c.614+48T>C	-	IntronicSNV	-	6/24	1
9-5050910-C-T	c.614+79C>T	-	IntronicSNV	-	6/24	2
9-5053743-C-G	c.615-820C>G	-	IntronicSNV	-	6/24	3
9-5053743-C-T	c.615-820C>T	-	IntronicSNV	-	6/24	3
9-5050830-A-C	c.613A>C	p.S205R	Missense	6/25	-	1
9-5054563-C-A	c.615C>A	p.S205R	Missense	7/25	-	1
9-5054563-C-G	c.615C>G	p.S205R	Missense	7/25	-	1
9-5054566-ACAAGACAT-A	c.618_625del	p.K207Lfs*44	Frameshift	7/25	-	1
9-5054567-A-C	c.619A>C	p.K207Q	Missense	7/25	-	1
9-5054568-A-C	c.620A>C	p.K207T	Missense	7/25	-	1
9-5054568-A-G	c.620A>G	p.K207R	Missense	7/25	-	1
9-5054569-G-A	c.621G>A	p.K207=	Synonymous	7/25	-	1
9-5054569-G-C	c.621G>C	p.K207N	Missense	7/25	-	1
9-5054569-G-T	c.621G>T	p.K207N	Missense	7/25	-	1
9-5054573-T-G	c.625T>G	p.F209V	Missense	7/25	-	1
9-5054574-T-C	c.626T>C	p.F209S	Missense	7/25	-	1
9-5054575-C-G	c.627C>G	p.F209L	Missense	7/25	-	2
9-5054576-T-C	c.628T>C	p.L210=	Synonymous	7/25	-	1
9-5054576-TT-CC	c.628_629delinsCC	p.L210P	Missense	7/25	-	1
9-5054578-A-G	c.630A>G	p.L210=	Synonymous	7/25	-	2
9-5054579-C-T	c.631C>T	p.P211S	Missense	7/25	-	1
9-5054580-C-T	c.632C>T	p.P211L	Missense	7/25	-	1
9-5054581-A-C	c.633A>C	p.P211=	Synonymous	7/25	-	1
9-5054581-A-G	c.633A>G	p.P211=	Synonymous	7/25	-	1
9-5054581-A-T	c.633A>T	p.P211=	Synonymous	7/25	-	1
9-5054582-A-G	c.634A>G	p.K212E	Missense	7/25	-	1
9-5054583-A-G	c.635A>G	p.K212R	Missense	7/25	-	1
9-5054585-T-A	c.637T>A	p.C213S	Missense	7/25	-	1
9-5054586-G-A	c.638G>A	p.C213Y	Missense	7/25	-	2
9-5054587-T-C	c.639T>C	p.C213=	Synonymous	7/25	-	1
9-5054588-A-G	c.640A>G	p.I214V	Missense	7/25	-	1
9-5054589-T-C	c.641T>C	p.I214T	Missense	7/25	-	1
9-5054591-CGA-TGG	c.643_645delinsTGG	p.R215W	Missense	7/25	-	1
9-5054591-CGA-TGT	c.643_645delinsTGT	p.R215C	Missense	7/25	-	2
9-5054591-C-T	c.643C>T	p.R215*	Nonsense	7/25	-	8
9-5054592-G-A	c.644G>A	p.R215Q	Missense	7/25	-	8
9-5054592-GA-AT	c.644_645delinsAT	p.R215H	Missense	7/25	-	1
9-5054592-G-T	c.644G>T	p.R215L	Missense	7/25	-	1
9-5054595-C-A	c.647C>A	p.A216E	Missense	7/25	-	1
9-5054595-C-G	c.647C>G	p.A216G	Missense	7/25	-	1
9-5054595-C-T	c.647C>T	p.A216V	Missense	7/25	-	1
9-5054597-AA-GC	c.649_650delinsGC	p.K217A	Missense	7/25	-	1
9-5054598-A-G	c.650A>G	p.K217R	Missense	7/25	-	1
9-5054599-G-A	c.651G>A	p.K217=	Synonymous	7/25	-	1
9-5054599-G-C	c.651G>C	p.K217N	Missense	7/25	-	2
9-5054599-G-T	c.651G>T	p.K217N	Missense	7/25	-	2
9-5054603-CAA-TGT	c.655_657delinsTGT	p.Q219C	Missense	7/25	-	1
9-5054603-C-T	c.655C>T	p.Q219*	Nonsense	7/25	-	1
9-5054606-G-A	c.658G>A	p.D220N	Missense	7/25	-	1
9-5054607-A-C	c.659A>C	p.D220A	Missense	7/25	-	1
9-5054607-A-G	c.659A>G	p.D220G	Missense	7/25	-	3
9-5054607-A-T	c.659A>T	p.D220V	Missense	7/25	-	2
9-5054610-A-G	c.662A>G	p.Y221C	Missense	7/25	-	1
9-5054610-A-T	c.662A>T	p.Y221F	Missense	7/25	-	1
9-5054611-T-A	c.663T>A	p.Y221*	Nonsense	7/25	-	1
9-5054611-T-G	c.663T>G	p.Y221*	Nonsense	7/25	-	1
9-5054612-C-G	c.664C>G	p.H222D	Missense	7/25	-	1
9-5054612-C-T	c.664C>T	p.H222Y	Missense	7/25	-	1
9-5054612-TCA-T	c.664_665del	p.H222Yfs*31	Frameshift	7/25	-	1
9-5054615-A-G	c.667A>G	p.I223V	Missense	7/25	-	1
9-5054616-T-C	c.668T>C	p.I223T	Missense	7/25	-	2
9-5054618-T-G	c.670T>G	p.L224V	Missense	7/25	-	1
9-5054618-TT-GA	c.670_671delinsGA	p.L224E	Missense	7/25	-	2
9-5054619-T-A	c.671T>A	p.L224*	Nonsense	7/25	-	1
9-5054622-C-G	c.674C>G	p.T225R	Missense	7/25	-	1
9-5054622-C-T	c.674C>T	p.T225I	Missense	7/25	-	2
9-5054624-AGG-TGT	c.676_678delinsTGT	p.R226C	Missense	7/25	-	1
9-5054624-A-T	c.676A>T	p.R226W	Missense	7/25	-	1
9-5054625-G-C	c.677G>C	p.R226T	Missense	7/25	-	1
9-5054625-G-T	c.677G>T	p.R226M	Missense	7/25	-	1
9-5054624-A-AG	c.678dup	p.K227Efs*27	Frameshift	7/25	-	2
9-5054626-G-T	c.678G>T	p.R226S	Missense	7/25	-	1
9-5054628-A-G	c.680A>G	p.K227R	Missense	7/25	-	1
9-5054630-C-A	c.682C>A	p.R228=	Synonymous	7/25	-	1
9-5054630-C-G	c.682C>G	p.R228G	Missense	7/25	-	1
9-5054630-CGA-TGG	c.682_684delinsTGG	p.R228W	Missense	7/25	-	1
9-5054630-CGA-TGT	c.682_684delinsTGT	p.R228C	Missense	7/25	-	1
9-5054630-C-T	c.682C>T	p.R228*	Nonsense	7/25	-	4
9-5054631-G-A	c.683G>A	p.R228Q	Missense	7/25	-	7
9-5054631-G-C	c.683G>C	p.R228P	Missense	7/25	-	3
9-5054631-G-T	c.683G>T	p.R228L	Missense	7/25	-	1
9-5054634-T-C	c.686T>C	p.I229T	Missense	7/25	-	1
9-5054639-T-C	c.691T>C	p.Y231H	Missense	7/25	-	2
9-5054642-AGA-CAT	c.694_696delinsCAT	p.R232H	Missense	7/25	-	1
9-5054642-AGA-TAT	c.694_696delinsTAT	p.R232Y	Missense	7/25	-	1
9-5054642-AGA-TGT	c.694_696delinsTGT	p.R232C	Missense	7/25	-	1
9-5054643-G-A	c.695G>A	p.R232K	Missense	7/25	-	2
9-5054643-G-C	c.695G>C	p.R232T	Missense	7/25	-	2
9-5054644-A-T	c.696A>T	p.R232S	Missense	7/25	-	1
9-5054646-T-C	c.698T>C	p.F233S	Missense	7/25	-	1
9-5054646-T-G	c.698T>G	p.F233C	Missense	7/25	-	1
9-5054647-T-C	c.699T>C	p.F233=	Synonymous	7/25	-	1
9-5054648-CGC-TGG	c.700_702delinsTGG	p.R234W	Missense	7/25	-	1
9-5054648-C-T	c.700C>T	p.R234C	Missense	7/25	-	5
9-5054649-G-A	c.701G>A	p.R234H	Missense	7/25	-	12
9-5054650-C-A	c.702C>A	p.R234=	Synonymous	7/25	-	1
9-5054652-G-T	c.704G>T	p.R235I	Missense	7/25	-	1
9-5054654-T-C	c.706T>C	p.F236L	Missense	7/25	-	1
9-5054657-A-T	c.709A>T	p.I237F	Missense	7/25	-	2
9-5054660-C-A	c.712C>A	p.Q238K	Missense	7/25	-	4
9-5054660-C-T	c.712C>T	p.Q238*	Nonsense	7/25	-	4
9-5054661-A-C	c.713A>C	p.Q238P	Missense	7/25	-	1
9-5054662-G-A	c.714G>A	p.Q238=	Synonymous	7/25	-	3
9-5054662-G-GGT	c.714_715insGT	p.Q239Vfs*13	Frameshift	7/25	-	1
9-5054663-C-A	c.715C>A	p.Q239K	Missense	7/25	-	1
9-5054663-C-T	c.715C>T	p.Q239*	Nonsense	7/25	-	1
9-5054665-A-G	c.717A>G	p.Q239=	Synonymous	7/25	-	1
9-5054666-T-C	c.718T>C	p.F240L	Missense	7/25	-	1
9-5054668-C-A	c.720C>A	p.F240L	Missense	7/25	-	1
9-5054668-C-G	c.720C>G	p.F240L	Missense	7/25	-	1
9-5054669-AG-TT	c.721_722delinsTT	p.S241F	Missense	7/25	-	1
9-5054669-A-T	c.721A>T	p.S241C	Missense	7/25	-	1
9-5054670-G-T	c.722G>T	p.S241I	Missense	7/25	-	1
9-5054669-A-C	c.721A>C	p.S241R	Missense	7/25	-	1
9-5054671-C-A	c.723C>A	p.S241R	Missense	7/25	-	1
9-5054671-C-G	c.723C>G	p.S241R	Missense	7/25	-	1
9-5054671-C-T	c.723C>T	p.S241=	Synonymous	7/25	-	1
9-5054672-C-T	c.724C>T	p.Q242*	Nonsense	7/25	-	1
9-5054676-G-A	c.728G>A	p.C243Y	Missense	7/25	-	3
9-5054677-C-T	c.729C>T	p.C243=	Synonymous	7/25	-	1
9-5054679-A-G	c.731A>G	p.K244R	Missense	7/25	-	4
9-5054680-A-G	c.732A>G	p.K244=	Synonymous	7/25	-	2
9-5054681-G-A	c.733G>A	p.A245T	Missense	7/25	-	6
9-5054682-C-T	c.734C>T	p.A245V	Missense	7/25	-	1
9-5054686-T-C	c.738T>C	p.T246=	Synonymous	7/25	-	1
9-5054687-G-A	c.739G>A	p.A247T	Missense	7/25	-	2
9-5054687-G-C	c.739G>C	p.A247P	Missense	7/25	-	1
9-5054687-G-T	c.739G>T	p.A247S	Missense	7/25	-	2
9-5054688-C-T	c.740C>T	p.A247V	Missense	7/25	-	1
9-5054689-C-A	c.741C>A	p.A247=	Synonymous	7/25	-	1
9-5054690-AGA-TGG	c.742_744delinsTGG	p.R248W	Missense	7/25	-	5
9-5054690-AGA-TGT	c.742_744delinsTGT	p.R248C	Missense	7/25	-	2
9-5054690-AG-CA	c.742_743delinsCA	p.R248Q	Missense	7/25	-	5
9-5054691-G-A	c.743G>A	p.R248K	Missense	7/25	-	2
9-5054691-G-C	c.743G>C	p.R248T	Missense	7/25	-	1
9-5054692-A-C	c.744A>C	p.R248S	Missense	7/25	-	1
9-5054692-A-G	c.744A>G	p.R248=	Synonymous	7/25	-	1
9-5054676-G-GCAAAGCCACTGCCAGAATTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT	c.745_746insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAAAGCCACTGCCAGAA	p.R248_N249insIFFFKQKTAYEILGCDWSSDVCSSDLKATAR	InFrameInsertion	7/25	-	1
9-5054695-C-T	c.747C>T	p.N249=	Synonymous	7/25	-	1
9-5054696-T-C	c.748T>C	p.L250=	Synonymous	7/25	-	1
9-5054696-T-G	c.748T>G	p.L250V	Missense	7/25	-	2
9-5054697-T-C	c.749T>C	p.L250S	Missense	7/25	-	1
9-5054698-G-A	c.750G>A	p.L250=	Synonymous	7/25	-	1
9-5054699-AA-GG	c.751_752delinsGG	p.K251G	Missense	7/25	-	1
9-5054699-A-G	c.751A>G	p.K251E	Missense	7/25	-	1
9-5054702-C-G	c.754C>G	p.L252V	Missense	7/25	-	1
9-5054703-T-C	c.755T>C	p.L252P	Missense	7/25	-	1
9-5054705-AA-GG	c.757_758delinsGG	p.K253G	Missense	7/25	-	1
9-5054705-A-G	c.757A>G	p.K253E	Missense	7/25	-	1
9-5054706-A-G	c.758A>G	p.K253R	Missense	7/25	-	1
9-5054707-G-A	c.759G>A	p.K253=	Synonymous	7/25	-	2
9-5054707-G-C	c.759G>C	p.K253N	Missense	7/25	-	2
9-5054707-G-T	c.759G>T	p.K253N	Missense	7/25	-	1
9-5054708-T-C	c.760T>C	p.Y254H	Missense	7/25	-	3
9-5054711-C-T	c.763C>T	p.L255F	Missense	7/25	-	5
9-5054712-T-A	c.764T>A	p.L255H	Missense	7/25	-	1
9-5054719-T-C	c.771T>C	p.N257=	Synonymous	7/25	-	1
9-5054720-CTG-ATC	c.772_774delinsATC	p.L258I	Missense	7/25	-	1
9-5054721-T-C	c.773T>C	p.L258P	Missense	7/25	-	2
9-5054720-C-T	c.772C>T	p.L258=	Synonymous	7/25	-	1
9-5054722-G-A	c.774G>A	p.L258=	Synonymous	7/25	-	1
9-5054722-G-C	c.774G>C	p.L258=	Synonymous	7/25	-	1
9-5054722-G-T	c.774G>T	p.L258=	Synonymous	7/25	-	1
9-5054723-G-A	c.775G>A	p.E259K	Missense	7/25	-	1
9-5054723-G-T	c.775G>T	p.E259*	Nonsense	7/25	-	1
9-5054727-C-T	c.779C>T	p.T260I	Missense	7/25	-	1
9-5054728-T-C	c.780T>C	p.T260=	Synonymous	7/25	-	1
9-5054729-C-T	c.781C>T	p.L261=	Synonymous	7/25	-	1
9-5054730-T-G	c.782T>G	p.L261R	Missense	7/25	-	1
9-5054732-CA-GC	c.784_785delinsGC	p.Q262A	Missense	7/25	-	1
9-5054732-C-T	c.784C>T	p.Q262*	Nonsense	7/25	-	1
9-5054734-G-C	c.786G>C	p.Q262H	Missense	7/25	-	1
9-5054734-G-T	c.786G>T	p.Q262H	Missense	7/25	-	2
9-5054735-TC-AT	c.787_788delinsAT	p.S263I	Missense	7/25	-	1
9-5054735-TC-CT	c.787_788delinsCT	p.S263L	Missense	7/25	-	1
9-5054736-C-G	c.788C>G	p.S263C	Missense	7/25	-	1
9-5054736-C-T	c.788C>T	p.S263F	Missense	7/25	-	1
9-5054737-T-G	c.789T>G	p.S263=	Synonymous	7/25	-	1
9-5054738-G-T	c.790G>T	p.A264S	Missense	7/25	-	1
9-5054739-C-A	c.791C>A	p.A264D	Missense	7/25	-	1
9-5054739-C-T	c.791C>T	p.A264V	Missense	7/25	-	1
9-5054741-T-C	c.793T>C	p.F265L	Missense	7/25	-	3
9-5054741-T-G	c.793T>G	p.F265V	Missense	7/25	-	3
9-5054743-C-A	c.795C>A	p.F265L	Missense	7/25	-	2
9-5054742-T-C	c.794T>C	p.F265S	Missense	7/25	-	1
9-5054743-C-G	c.795C>G	p.F265L	Missense	7/25	-	4
9-5054745-A-C	c.797A>C	p.Y266S	Missense	7/25	-	1
9-5054745-A-G	c.797A>G	p.Y266C	Missense	7/25	-	1
9-5054746-C-T	c.798C>T	p.Y266=	Synonymous	7/25	-	2
9-5054747-A-C	c.799A>C	p.T267P	Missense	7/25	-	1
9-5054748-AC-A	c.800del	p.T267Kfs*6	Frameshift	7/25	-	1
9-5054750-G-A	c.802G>A	p.E268K	Missense	7/25	-	2
9-5054751-GA-G	c.803del	p.E268Gfs*5	Frameshift	7/25	-	1
9-5054752-G-A	c.804G>A	p.E268=	Synonymous	7/25	-	1
9-5054752-G-C	c.804G>C	p.E268D	Missense	7/25	-	4
9-5054752-G-T	c.804G>T	p.E268D	Missense	7/25	-	3
9-5054753-A-C	c.805A>C	p.K269Q	Missense	7/25	-	4
9-5054754-A-C	c.806A>C	p.K269T	Missense	7/25	-	1
9-5054754-A-G	c.806A>G	p.K269R	Missense	7/25	-	1
9-5054755-A-C	c.807A>C	p.K269N	Missense	7/25	-	1
9-5054755-A-G	c.807A>G	p.K269=	Synonymous	7/25	-	1
9-5054755-A-T	c.807A>T	p.K269N	Missense	7/25	-	1
9-5054756-T-G	c.808T>G	p.F270V	Missense	7/25	-	1
9-5054759-G-A	c.811G>A	p.E271K	Missense	7/25	-	1
9-5054759-G-C	c.811G>C	p.E271Q	Missense	7/25	-	4
9-5054760-A-G	c.812A>G	p.E271G	Missense	7/25	-	2
9-5054759-GA-G	c.813del	p.V272*	Frameshift	7/25	-	1
9-5054762-G-A	c.814G>A	p.V272I	Missense	7/25	-	2
9-5054762-GTA-ATG	c.814_816delinsATG	p.V272M	Missense	7/25	-	3
9-5054763-T-G	c.815T>G	p.V272G	Missense	7/25	-	2
9-5054764-A-C	c.816A>C	p.V272=	Synonymous	7/25	-	1
9-5054764-A-G	c.816A>G	p.V272=	Synonymous	7/25	-	1
9-5054764-A-T	c.816A>T	p.V272=	Synonymous	7/25	-	1
9-5054765-AA-GC	c.817_818delinsGC	p.K273A	Missense	7/25	-	1
9-5054766-A-C	c.818A>C	p.K273T	Missense	7/25	-	1
9-5054766-A-G	c.818A>G	p.K273R	Missense	7/25	-	1
9-5054768-G-A	c.820G>A	p.E274K	Missense	7/25	-	2
9-5054768-G-C	c.820G>C	p.E274Q	Missense	7/25	-	1
9-5054768-G-T	c.820G>T	p.E274*	Nonsense	7/25	-	6
9-5054769-A-C	c.821A>C	p.E274A	Missense	7/25	-	1
9-5054769-A-T	c.821A>T	p.E274V	Missense	7/25	-	1
9-5054770-A-C	c.822A>C	p.E274D	Missense	7/25	-	1
9-5054770-A-G	c.822A>G	p.E274=	Synonymous	7/25	-	1
9-5054770-A-T	c.822A>T	p.E274D	Missense	7/25	-	1
9-5054771-C-A	c.823C>A	p.P275T	Missense	7/25	-	1
9-5054771-C-T	c.823C>T	p.P275S	Missense	7/25	-	5
9-5054772-C-A	c.824C>A	p.P275H	Missense	7/25	-	1
9-5054772-C-T	c.824C>T	p.P275L	Missense	7/25	-	1
9-5054775-G-A	c.827G>A	p.G276E	Missense	7/25	-	1
9-5054775-G-C	c.827G>C	p.G276A	Missense	7/25	-	6
9-5054775-G-T	c.827G>T	p.G276V	Missense	7/25	-	3
9-5054776-A-G	c.828A>G	p.G276=	Synonymous	7/25	-	1
9-5054778-G-A	c.830G>A	p.S277N	Missense	7/25	-	2
9-5054778-G-C	c.830G>C	p.S277T	Missense	7/25	-	1
9-5054778-G-T	c.830G>T	p.S277I	Missense	7/25	-	1
9-5054777-A-C	c.829A>C	p.S277R	Missense	7/25	-	2
9-5054779-T-A	c.831T>A	p.S277R	Missense	7/25	-	4
9-5054779-T-G	c.831T>G	p.S277R	Missense	7/25	-	3
9-5054779-TG-T	c.833del	p.G278Vfs*12	Frameshift	7/25	-	1
9-5054781-G-A	c.833G>A	p.G278D	Missense	7/25	-	1
9-5054781-GT-AG	c.833_834delinsAG	p.G278E	Missense	7/25	-	1
9-5054782-T-A	c.834T>A	p.G278=	Synonymous	7/25	-	1
9-5054782-T-C	c.834T>C	p.G278=	Synonymous	7/25	-	1
9-5054782-T-G	c.834T>G	p.G278=	Synonymous	7/25	-	1
9-5054783-C-A	c.835C>A	p.P279T	Missense	7/25	-	1
9-5054782-TC-T	c.836del	p.P279Lfs*11	Frameshift	7/25	-	1
9-5054784-C-A	c.836C>A	p.P279H	Missense	7/25	-	1
9-5054784-C-T	c.836C>T	p.P279L	Missense	7/25	-	6
9-5054786-T-G	c.838T>G	p.S280A	Missense	7/25	-	1
9-5054787-CA-TT	c.839_840delinsTT	p.S280F	Missense	7/25	-	1
9-5054787-C-G	c.839C>G	p.S280*	Nonsense	7/25	-	1
9-5054787-C-T	c.839C>T	p.S280L	Missense	7/25	-	4
9-5054787-C-CA	c.840dup	p.G281Rfs*2	Frameshift	7/25	-	1
9-5054788-A-C	c.840A>C	p.S280=	Synonymous	7/25	-	2
9-5054788-A-G	c.840A>G	p.S280=	Synonymous	7/25	-	3
9-5054788-A-T	c.840A>T	p.S280=	Synonymous	7/25	-	2
9-5054789-G-A	c.841G>A	p.G281S	Missense	7/25	-	1
9-5054789-GG-AA	c.841_842delinsAA	p.G281N	Missense	7/25	-	1
9-5054790-G-A	c.842G>A	p.G281D	Missense	7/25	-	2
9-5054791-GT-G	c.843del	p.E282Rfs*8	Frameshift	7/25	-	1
9-5054792-G-A	c.844G>A	p.E282K	Missense	7/25	-	1
9-5054792-G-C	c.844G>C	p.E282Q	Missense	7/25	-	1
9-5054795-G-A	c.847G>A	p.E283K	Missense	7/25	-	1
9-5054797-G-A	c.849G>A	p.E283=	Synonymous	7/25	-	1
9-5054798-A-T	c.850A>T	p.I284F	Missense	7/25	-	1
9-5054800-T-G	c.852T>G	p.I284M	Missense	7/25	-	1
9-5054801-T-C	c.853T>C	p.F285L	Missense	7/25	-	1
9-5054803-T-A	c.855T>A	p.F285L	Missense	7/25	-	1
9-5054803-T-G	c.855T>G	p.F285L	Missense	7/25	-	1
9-5054802-T-C	c.854T>C	p.F285S	Missense	7/25	-	1
9-5054804-G-A	c.856G>A	p.A286T	Missense	7/25	-	2
9-5054804-G-T	c.856G>T	p.A286S	Missense	7/25	-	1
9-5054804-TGCA-T	c.856_858del	p.A286del	InFrameDeletion	7/25	-	1
9-5054805-C-T	c.857C>T	p.A286V	Missense	7/25	-	1
9-5054807-AC-GA	c.859_860delinsGA	p.T287D	Missense	7/25	-	1
9-5054808-C-G	c.860C>G	p.T287S	Missense	7/25	-	1
9-5054811-T-C	c.863T>C	p.I288T	Missense	7/25	-	1
9-5054813-ATA-TTT	c.865_867delinsTTT	p.I289F	Missense	7/25	-	1
9-5054811-TTA-T	c.866_867del	p.I289Nfs*15	Frameshift	7/25	-	1
9-5054814-T-A	c.866T>A	p.I289K	Missense	7/25	-	2
9-5054819-A-T	c.871A>T	p.T291S	Missense	7/25	-	2
9-5054820-C-G	c.872C>G	p.T291S	Missense	7/25	-	2
9-5054820-C-T	c.872C>T	p.T291I	Missense	7/25	-	1
9-5054820-CT-TG	c.872_873delinsTG	p.T291M	Missense	7/25	-	1
9-5054822-G-A	c.874G>A	p.G292R	Missense	7/25	-	1
9-5054822-G-C	c.874G>C	p.G292R	Missense	7/25	-	1
9-5054822-GG-AA	c.874_875delinsAA	p.G292K	Missense	7/25	-	1
9-5054823-G-A	c.875G>A	p.G292E	Missense	7/25	-	2
9-5054823-GA-AC	c.875_876delinsAC	p.G292D	Missense	7/25	-	1
9-5054824-A-T	c.876A>T	p.G292=	Synonymous	7/25	-	1
9-5054828-G-A	c.880G>A	p.G294S	Missense	7/25	-	2
9-5054828-G-C	c.880G>C	p.G294R	Missense	7/25	-	1
9-5054829-G-A	c.881G>A	p.G294D	Missense	7/25	-	1
9-5054829-G-T	c.881G>T	p.G294V	Missense	7/25	-	1
9-5054831-G-A	c.883G>A	p.G295R	Missense	7/25	-	1
9-5054831-G-T	c.883G>T	p.G295*	Nonsense	7/25	-	2
9-5054832-G-A	c.884G>A	p.G295E	Missense	7/25	-	4
9-5054836-TC-AA	c.888_889delinsAA	p.Q297K	Missense	7/25	-	1
9-5054840-T-C	c.892T>C	p.W298R	Missense	7/25	-	1
9-5054841-G-A	c.893G>A	p.W298*	Nonsense	7/25	-	1
9-5054842-G-A	c.894G>A	p.W298*	Nonsense	7/25	-	1
9-5054842-G-C	c.894G>C	p.W298C	Missense	7/25	-	1
9-5054842-G-T	c.894G>T	p.W298C	Missense	7/25	-	1
9-5054843-T-C	c.895T>C	p.S299P	Missense	7/25	-	1
9-5054844-C-A	c.896C>A	p.S299*	Nonsense	7/25	-	2
9-5054844-CA-TT	c.896_897delinsTT	p.S299F	Missense	7/25	-	1
9-5054844-C-G	c.896C>G	p.S299*	Nonsense	7/25	-	1
9-5054844-C-T	c.896C>T	p.S299L	Missense	7/25	-	1
9-5054844-CA-C	c.898del	p.R300Efs*10	Frameshift	7/25	-	1
9-5054846-A-G	c.898A>G	p.R300G	Missense	7/25	-	1
9-5054846-AGA-CAT	c.898_900delinsCAT	p.R300H	Missense	7/25	-	1
9-5054846-AGA-TGT	c.898_900delinsTGT	p.R300C	Missense	7/25	-	1
9-5054846-AG-CA	c.898_899delinsCA	p.R300Q	Missense	7/25	-	1
9-5054847-G-A	c.899G>A	p.R300K	Missense	7/25	-	3
9-5054847-G-C	c.899G>C	p.R300T	Missense	7/25	-	1
9-5054848-A-C	c.900A>C	p.R300S	Missense	7/25	-	1
9-5054848-A-T	c.900A>T	p.R300S	Missense	7/25	-	2
9-5054852-A-G	c.904A>G	p.K302E	Missense	7/25	-	2
9-5054856-A-T	c.908A>T	p.H303L	Missense	7/25	-	1
9-5054859-A-C	c.911A>C	p.K304T	Missense	7/25	-	3
9-5054860-A-C	c.912A>C	p.K304N	Missense	7/25	-	1
9-5054860-A-G	c.912A>G	p.K304=	Synonymous	7/25	-	1
9-5054860-A-T	c.912A>T	p.K304N	Missense	7/25	-	1
9-5054861-G-A	c.913G>A	p.E305K	Missense	7/25	-	1
9-5054861-G-C	c.913G>C	p.E305Q	Missense	7/25	-	1
9-5054863-A-G	c.915A>G	p.E305=	Synonymous	7/25	-	1
9-5054866-T-C	c.918T>C	p.S306=	Synonymous	7/25	-	3
9-5054867-G-A	c.919G>A	p.E307K	Missense	7/25	-	2
9-5054869-G-C	c.921G>C	p.E307D	Missense	7/25	-	1
9-5054870-A-C	c.922A>C	p.T308P	Missense	7/25	-	2
9-5054870-ACA-CAT	c.922_924delinsCAT	p.T308H	Missense	7/25	-	1
9-5054870-A-G	c.922A>G	p.T308A	Missense	7/25	-	1
9-5054871-CA-TG	c.923_924inv	p.T308M	Missense	7/25	-	1
9-5054873-CTG-ATC	c.925_927delinsATC	p.L309I	Missense	7/25	-	1
9-5054874-T-G	c.926T>G	p.L309R	Missense	7/25	-	1
9-5054876-A-G	c.928A>G	p.T310A	Missense	7/25	-	1
9-5054877-C-T	c.929C>T	p.T310I	Missense	7/25	-	2
9-5054879-G-A	c.931G>A	p.E311K	Missense	7/25	-	2
9-5054879-G-T	c.931G>T	p.E311*	Nonsense	7/25	-	1
9-5054882-C-T	c.934C>T	p.Q312*	Nonsense	7/25	-	2
9-5054884-G-C	c.936G>C	p.Q312H	Missense	7/25	-	1
9-5054884-G-T	c.936G>T	p.Q312H	Missense	7/25	-	1
9-5054885-G-A	c.936+1G>A	-	IntronicSNV	-	7/24	1
9-5054886-T-C	c.936+2T>C	-	IntronicSNV	-	7/24	1
9-5054886-T-G	c.936+2T>G	-	IntronicSNV	-	7/24	1
9-5054901-AT-A	c.936+17del	-	IntronicDeletion	-	7/24	1
9-5054915-GT-G	c.936+33del	-	IntronicDeletion	-	7/24	1
9-5055015-C-T	c.936+131C>T	-	IntronicSNV	-	7/24	6
9-5055434-C-T	c.937-235C>T	-	IntronicSNV	-	7/24	5
9-5055669-G-A	c.937G>A	p.D313N	Missense	8/25	-	1
9-5055669-G-C	c.937G>C	p.D313H	Missense	8/25	-	2
9-5055670-A-C	c.938A>C	p.D313A	Missense	8/25	-	1
9-5055672-T-A	c.940T>A	p.L314I	Missense	8/25	-	1
9-5055672-T-C	c.940T>C	p.L314=	Synonymous	8/25	-	1
9-5055674-A-G	c.942A>G	p.L314=	Synonymous	8/25	-	1
9-5055676-A-T	c.944A>T	p.Q315L	Missense	8/25	-	1
9-5055678-T-G	c.946T>G	p.L316V	Missense	8/25	-	1
9-5055678-TTA-ATG	c.946_948delinsATG	p.L316M	Missense	8/25	-	1
9-5055678-TT-CC	c.946_947delinsCC	p.L316P	Missense	8/25	-	1
9-5055679-T-A	c.947T>A	p.L316*	Nonsense	8/25	-	1
9-5055679-T-G	c.947T>G	p.L316*	Nonsense	8/25	-	1
9-5055680-A-C	c.948A>C	p.L316F	Missense	8/25	-	1
9-5055680-A-T	c.948A>T	p.L316F	Missense	8/25	-	1
9-5055681-T-C	c.949T>C	p.Y317H	Missense	8/25	-	4
9-5055684-T-C	c.952T>C	p.C318R	Missense	8/25	-	1
9-5055686-C-A	c.954C>A	p.C318*	Nonsense	8/25	-	1
9-5055686-C-T	c.954C>T	p.C318=	Synonymous	8/25	-	3
9-5055687-G-A	c.955G>A	p.D319N	Missense	8/25	-	13
9-5055688-A-G	c.956A>G	p.D319G	Missense	8/25	-	1
9-5055694-C-T	c.962C>T	p.P321L	Missense	8/25	-	2
9-5055696-A-C	c.964A>C	p.N322H	Missense	8/25	-	1
9-5055696-A-G	c.964A>G	p.N322D	Missense	8/25	-	1
9-5055699-A-G	c.967A>G	p.I323V	Missense	8/25	-	1
9-5055700-T-C	c.968T>C	p.I323T	Missense	8/25	-	1
9-5055701-T-G	c.969T>G	p.I323M	Missense	8/25	-	1
9-5055703-T-C	c.971T>C	p.I324T	Missense	8/25	-	1
9-5055703-T-G	c.971T>G	p.I324S	Missense	8/25	-	1
9-5055705-GAT-AAG	c.973_975delinsAAG	p.D325K	Missense	8/25	-	1
9-5055705-G-C	c.973G>C	p.D325H	Missense	8/25	-	1
9-5055705-G-T	c.973G>T	p.D325Y	Missense	8/25	-	2
9-5055706-A-G	c.974A>G	p.D325G	Missense	8/25	-	1
9-5055708-G-A	c.976G>A	p.V326I	Missense	8/25	-	1
9-5055709-T-C	c.977T>C	p.V326A	Missense	8/25	-	1
9-5055711-AG-TT	c.979_980delinsTT	p.S327F	Missense	8/25	-	1
9-5055712-G-A	c.980G>A	p.S327N	Missense	8/25	-	2
9-5055712-G-C	c.980G>C	p.S327T	Missense	8/25	-	2
9-5055714-A-G	c.982A>G	p.I328V	Missense	8/25	-	2
9-5055717-AAG-CAT	c.985_987delinsCAT	p.K329H	Missense	8/25	-	1
9-5055720-C-T	c.988C>T	p.Q330*	Nonsense	8/25	-	1
9-5055721-A-G	c.989A>G	p.Q330R	Missense	8/25	-	1
9-5055723-G-A	c.991G>A	p.A331T	Missense	8/25	-	3
9-5055724-C-T	c.992C>T	p.A331V	Missense	8/25	-	1
9-5055727-A-G	c.995A>G	p.N332S	Missense	8/25	-	3
9-5055729-C-G	c.997C>G	p.Q333E	Missense	8/25	-	2
9-5055729-C-T	c.997C>T	p.Q333*	Nonsense	8/25	-	1
9-5055730-A-G	c.998A>G	p.Q333R	Missense	8/25	-	1
9-5055731-A-AT	c.999_1000insT	p.E334*	Nonsense	8/25	-	1
9-5055732-G-T	c.1000G>T	p.E334*	Nonsense	8/25	-	1
9-5055733-A-G	c.1001A>G	p.E334G	Missense	8/25	-	1
9-5055734-G-C	c.1002G>C	p.E334D	Missense	8/25	-	1
9-5055734-G-T	c.1002G>T	p.E334D	Missense	8/25	-	1
9-5055735-G-A	c.1003G>A	p.G335S	Missense	8/25	-	3
9-5055736-G-A	c.1004G>A	p.G335D	Missense	8/25	-	4
9-5055736-G-T	c.1004G>T	p.G335V	Missense	8/25	-	1
9-5055739-C-A	c.1007C>A	p.S336*	Nonsense	8/25	-	2
9-5055739-C-G	c.1007C>G	p.S336*	Nonsense	8/25	-	3
9-5055741-A-C	c.1009A>C	p.N337H	Missense	8/25	-	1
9-5055741-A-G	c.1009A>G	p.N337D	Missense	8/25	-	6
9-5055741-A-T	c.1009A>T	p.N337Y	Missense	8/25	-	2
9-5055739-C-CA	c.1010dup	p.N337Kfs*2	Frameshift	8/25	-	1
9-5055742-A-AT	c.1011dup	p.E338*	Nonsense	8/25	-	3
9-5055743-T-G	c.1011T>G	p.N337K	Missense	8/25	-	1
9-5055744-G-A	c.1012G>A	p.E338K	Missense	8/25	-	1
9-5055745-A-T	c.1013A>T	p.E338V	Missense	8/25	-	1
9-5055744-GA-G	c.1015del	p.S339Afs*4	Frameshift	8/25	-	5
9-5055747-AG-TT	c.1015_1016delinsTT	p.S339F	Missense	8/25	-	1
9-5055747-A-T	c.1015A>T	p.S339C	Missense	8/25	-	1
9-5055748-G-C	c.1016G>C	p.S339T	Missense	8/25	-	1
9-5055748-G-T	c.1016G>T	p.S339I	Missense	8/25	-	1
9-5055748-G-GC	c.1018dup	p.R340Pfs*7	Frameshift	8/25	-	1
9-5055750-CGA-TGG	c.1018_1020delinsTGG	p.R340W	Missense	8/25	-	2
9-5055750-C-T	c.1018C>T	p.R340*	Nonsense	8/25	-	4
9-5055751-CG-C	c.1019del	p.R340Qfs*3	Frameshift	8/25	-	1
9-5055751-G-A	c.1019G>A	p.R340Q	Missense	8/25	-	2
9-5055753-G-A	c.1021G>A	p.V341I	Missense	8/25	-	1
9-5055753-GTT-ATG	c.1021_1023delinsATG	p.V341M	Missense	8/25	-	1
9-5055754-GTT-G	c.1022_1023del	p.V341Gfs*5	Frameshift	8/25	-	1
9-5055754-T-G	c.1022T>G	p.V341G	Missense	8/25	-	1
9-5055756-G-A	c.1024G>A	p.V342I	Missense	8/25	-	1
9-5055756-G-C	c.1024G>C	p.V342L	Missense	8/25	-	1
9-5055757-T-C	c.1025T>C	p.V342A	Missense	8/25	-	1
9-5055758-A-G	c.1026A>G	p.V342=	Synonymous	8/25	-	1
9-5055759-A-G	c.1027A>G	p.T343A	Missense	8/25	-	1
9-5055760-C-T	c.1028C>T	p.T343I	Missense	8/25	-	1
9-5055765-C-A	c.1033C>A	p.H345N	Missense	8/25	-	1
9-5055769-A-G	c.1037A>G	p.K346R	Missense	8/25	-	3
9-5055774-G-T	c.1042G>T	p.D348Y	Missense	8/25	-	1
9-5055778-G-C	c.1046G>C	p.G349A	Missense	8/25	-	1
9-5055778-G-T	c.1046G>T	p.G349V	Missense	8/25	-	1
9-5055784-A-T	c.1052A>T	p.N351I	Missense	8/25	-	1
9-5055786-C-A	c.1054C>A	p.L352M	Missense	8/25	-	3
9-5055786-CTG-ATC	c.1054_1056delinsATC	p.L352I	Missense	8/25	-	1
9-5055787-T-G	c.1055T>G	p.L352R	Missense	8/25	-	1
9-5055788-G-T	c.1056G>T	p.L352=	Synonymous	8/25	-	1
9-5055790-T-C	c.1056+2T>C	-	IntronicSNV	-	8/24	1
9-5055937-G-A	c.1056+149G>A	-	IntronicSNV	-	8/24	1
9-5056037-A-G	c.1056+249A>G	-	IntronicSNV	-	8/24	2
9-5056196-T-C	c.1056+408T>C	-	IntronicSNV	-	8/24	1
9-5056282-T-A	c.1056+494T>A	-	IntronicSNV	-	8/24	1
9-5056482-G-A	c.1056+694G>A	-	IntronicSNV	-	8/24	2
9-5056482-G-T	c.1056+694G>T	-	IntronicSNV	-	8/24	2
9-5056817-T-A	c.1056+1029T>A	-	IntronicSNV	-	8/24	1
9-5056931-C-A	c.1056+1143C>A	-	IntronicSNV	-	8/24	5
9-5057284-T-A	c.1056+1496T>A	-	IntronicSNV	-	8/24	5
9-5057568-G-C	c.1056+1780G>C	-	IntronicSNV	-	8/24	1
9-5057568-G-T	c.1056+1780G>T	-	IntronicSNV	-	8/24	1
9-5058048-A-G	c.1056+2260A>G	-	IntronicSNV	-	8/24	1
9-5058991-A-C	c.1056+3203A>C	-	IntronicSNV	-	8/24	3
9-5058991-A-T	c.1056+3203A>T	-	IntronicSNV	-	8/24	3
9-5059190-C-T	c.1056+3402C>T	-	IntronicSNV	-	8/24	1
9-5059440-C-T	c.1056+3652C>T	-	IntronicSNV	-	8/24	6
9-5059543-T-C	c.1056+3755T>C	-	IntronicSNV	-	8/24	1
9-5059593-T-C	c.1056+3805T>C	-	IntronicSNV	-	8/24	1
9-5059767-T-A	c.1056+3979T>A	-	IntronicSNV	-	8/24	1
9-5060334-G-A	c.1056+4546G>A	-	IntronicSNV	-	8/24	1
9-5060334-G-T	c.1056+4546G>T	-	IntronicSNV	-	8/24	2
9-5061405-A-C	c.1057-3478A>C	-	IntronicSNV	-	8/24	1
9-5061405-A-G	c.1057-3478A>G	-	IntronicSNV	-	8/24	1
9-5061578-G-A	c.1057-3305G>A	-	IntronicSNV	-	8/24	1
9-5062056-G-A	c.1057-2827G>A	-	IntronicSNV	-	8/24	1
9-5062473-T-A	c.1057-2410T>A	-	IntronicSNV	-	8/24	2
9-5062473-T-C	c.1057-2410T>C	-	IntronicSNV	-	8/24	2
9-5062553-T-A	c.1057-2330T>A	-	IntronicSNV	-	8/24	1
9-5062610-T-C	c.1057-2273T>C	-	IntronicSNV	-	8/24	1
9-5062816-C-A	c.1057-2067C>A	-	IntronicSNV	-	8/24	1
9-5062816-C-T	c.1057-2067C>T	-	IntronicSNV	-	8/24	1
9-5062826-G-A	c.1057-2057G>A	-	IntronicSNV	-	8/24	1
9-5062837-T-A	c.1057-2046T>A	-	IntronicSNV	-	8/24	1
9-5062837-T-C	c.1057-2046T>C	-	IntronicSNV	-	8/24	1
9-5062844-A-T	c.1057-2039A>T	-	IntronicSNV	-	8/24	1
9-5062932-C-G	c.1057-1951C>G	-	IntronicSNV	-	8/24	1
9-5062932-C-T	c.1057-1951C>T	-	IntronicSNV	-	8/24	1
9-5063199-G-A	c.1057-1684G>A	-	IntronicSNV	-	8/24	2
9-5063199-G-T	c.1057-1684G>T	-	IntronicSNV	-	8/24	2
9-5063296-G-T	c.1057-1587G>T	-	IntronicSNV	-	8/24	6
9-5063664-T-A	c.1057-1219T>A	-	IntronicSNV	-	8/24	1
9-5063664-T-C	c.1057-1219T>C	-	IntronicSNV	-	8/24	1
9-5063690-T-A	c.1057-1193T>A	-	IntronicSNV	-	8/24	1
9-5063690-T-C	c.1057-1193T>C	-	IntronicSNV	-	8/24	1
9-5063701-T-A	c.1057-1182T>A	-	IntronicSNV	-	8/24	4
9-5063701-T-C	c.1057-1182T>C	-	IntronicSNV	-	8/24	4
9-5063884-A-G	c.1057-999A>G	-	IntronicSNV	-	8/24	1
9-5063885-T-C	c.1057-998T>C	-	IntronicSNV	-	8/24	1
9-5063885-T-G	c.1057-998T>G	-	IntronicSNV	-	8/24	1
9-5063994-A-G	c.1057-889A>G	-	IntronicSNV	-	8/24	1
9-5064193-T-C	c.1057-690T>C	-	IntronicSNV	-	8/24	3
9-5064548-G-A	c.1057-335G>A	-	IntronicSNV	-	8/24	1
9-5064883-G-A	c.1057G>A	p.E353K	Missense	9/25	-	1
9-5064885-A-C	c.1059A>C	p.E353D	Missense	9/25	-	1
9-5064885-A-T	c.1059A>T	p.E353D	Missense	9/25	-	1
9-5064886-A-G	c.1060A>G	p.I354V	Missense	9/25	-	2
9-5064887-T-C	c.1061T>C	p.I354T	Missense	9/25	-	1
9-5064888-T-A	c.1062T>A	p.I354=	Synonymous	9/25	-	1
9-5064888-T-C	c.1062T>C	p.I354=	Synonymous	9/25	-	1
9-5064889-G-A	c.1063G>A	p.E355K	Missense	9/25	-	1
9-5064890-A-C	c.1064A>C	p.E355A	Missense	9/25	-	2
9-5064890-A-G	c.1064A>G	p.E355G	Missense	9/25	-	4
9-5064891-A-T	c.1065A>T	p.E355D	Missense	9/25	-	1
9-5064893-T-C	c.1067T>C	p.L356P	Missense	9/25	-	1
9-5064893-T-G	c.1067T>G	p.L356R	Missense	9/25	-	1
9-5064898-TCA-AAC	c.1072_1074delinsAAC	p.S358N	Missense	9/25	-	1
9-5064899-C-A	c.1073C>A	p.S358*	Nonsense	9/25	-	4
9-5064899-CA-GT	c.1073_1074delinsGT	p.S358C	Missense	9/25	-	1
9-5064899-C-G	c.1073C>G	p.S358*	Nonsense	9/25	-	3
9-5064901-T-C	c.1075T>C	p.L359=	Synonymous	9/25	-	2
9-5064901-T-G	c.1075T>G	p.L359V	Missense	9/25	-	3
9-5064903-A-G	c.1077A>G	p.L359=	Synonymous	9/25	-	2
9-5064904-AG-CT	c.1078_1079inv	p.R360L	Missense	9/25	-	1
9-5064904-AG-TA	c.1078_1079delinsTA	p.R360*	Nonsense	9/25	-	1
9-5064905-G-T	c.1079G>T	p.R360M	Missense	9/25	-	1
9-5064906-G-A	c.1080G>A	p.R360=	Synonymous	9/25	-	1
9-5064906-G-C	c.1080G>C	p.R360S	Missense	9/25	-	1
9-5064907-G-C	c.1081G>C	p.E361Q	Missense	9/25	-	1
9-5064909-A-C	c.1083A>C	p.E361D	Missense	9/25	-	1
9-5064909-A-T	c.1083A>T	p.E361D	Missense	9/25	-	1
9-5064910-G-A	c.1084G>A	p.A362T	Missense	9/25	-	1
9-5064914-T-TG	c.1089dup	p.S364Vfs*7	Frameshift	9/25	-	2
9-5064915-G-C	c.1089G>C	p.L363F	Missense	9/25	-	2
9-5064915-G-T	c.1089G>T	p.L363F	Missense	9/25	-	2
9-5064916-T-C	c.1090T>C	p.S364P	Missense	9/25	-	2
9-5064917-C-G	c.1091C>G	p.S364C	Missense	9/25	-	3
9-5064917-CTTTCGTGTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACATCAT-C	c.1093_1144del	p.F365Tfs*6	Frameshift	9/25	-	5
9-5064919-T-C	c.1093T>C	p.F365L	Missense	9/25	-	1
9-5064921-C-A	c.1095C>A	p.F365L	Missense	9/25	-	1
9-5064921-C-G	c.1095C>G	p.F365L	Missense	9/25	-	2
9-5064921-C-T	c.1095C>T	p.F365=	Synonymous	9/25	-	8
9-5064919-TTCGTGTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACA-T	c.1096_1141del	p.V366Ifs*7	Frameshift	9/25	-	2
9-5064922-G-A	c.1096G>A	p.V366M	Missense	9/25	-	9
9-5064922-G-C	c.1096G>C	p.V366L	Missense	9/25	-	2
9-5064922-G-T	c.1096G>T	p.V366L	Missense	9/25	-	3
9-5064923-T-G	c.1097T>G	p.V366G	Missense	9/25	-	3
9-5064925-GTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACATCATTACCTCT-G	c.1099_1150del	p.S367Vfs*4	Frameshift	9/25	-	1
9-5064925-T-C	c.1099T>C	p.S367P	Missense	9/25	-	1
9-5064925-TC-AT	c.1099_1100delinsAT	p.S367I	Missense	9/25	-	1
9-5064925-T-G	c.1099T>G	p.S367A	Missense	9/25	-	1
9-5064926-C-A	c.1100C>A	p.S367*	Nonsense	9/25	-	1
9-5064926-CA-TT	c.1100_1101delinsTT	p.S367F	Missense	9/25	-	1
9-5064926-C-G	c.1100C>G	p.S367*	Nonsense	9/25	-	2
9-5064926-C-T	c.1100C>T	p.S367L	Missense	9/25	-	3
9-5064927-A-G	c.1101A>G	p.S367=	Synonymous	9/25	-	1
9-5064928-ATTAATTGATGGATATTATAGATTAACTGCAGATG-A	c.1102_1135del	p.L368Hfs*9	Frameshift	9/25	-	1
9-5064928-T-C	c.1102T>C	p.L368=	Synonymous	9/25	-	1
9-5064930-A-G	c.1104A>G	p.L368=	Synonymous	9/25	-	1
9-5064931-A-G	c.1105A>G	p.I369V	Missense	9/25	-	3
9-5064931-A-T	c.1105A>T	p.I369F	Missense	9/25	-	1
9-5064932-T-C	c.1106T>C	p.I369T	Missense	9/25	-	1
9-5064931-AT-A	c.1107del	p.I369Mfs*7	Frameshift	9/25	-	1
9-5064933-T-A	c.1107T>A	p.I369=	Synonymous	9/25	-	1
9-5064933-T-C	c.1107T>C	p.I369=	Synonymous	9/25	-	1
9-5064934-G-A	c.1108G>A	p.D370N	Missense	9/25	-	1
9-5064934-GAT-ATG	c.1108_1110delinsATG	p.D370M	Missense	9/25	-	1
9-5064934-G-C	c.1108G>C	p.D370H	Missense	9/25	-	4
9-5064934-G-T	c.1108G>T	p.D370Y	Missense	9/25	-	1
9-5064934-TG-T	c.1108del	p.D370Mfs*6	Frameshift	9/25	-	1
9-5064937-G-A	c.1111G>A	p.G371R	Missense	9/25	-	1
9-5064937-GGA-TGT	c.1111_1113delinsTGT	p.G371C	Missense	9/25	-	1
9-5064936-TG-T	c.1112del	p.G371Dfs*5	Frameshift	9/25	-	1
9-5064938-G-A	c.1112G>A	p.G371E	Missense	9/25	-	2
9-5064939-A-G	c.1113A>G	p.G371=	Synonymous	9/25	-	1
9-5064940-T-A	c.1114T>A	p.Y372N	Missense	9/25	-	1
9-5064940-T-C	c.1114T>C	p.Y372H	Missense	9/25	-	1
9-5064941-A-G	c.1115A>G	p.Y372C	Missense	9/25	-	3
9-5064941-A-T	c.1115A>T	p.Y372F	Missense	9/25	-	1
9-5064944-A-T	c.1118A>T	p.Y373F	Missense	9/25	-	2
9-5064946-AGA-TGT	c.1120_1122delinsTGT	p.R374C	Missense	9/25	-	1
9-5064946-AG-CT	c.1120_1121inv	p.R374L	Missense	9/25	-	1
9-5064946-AG-GA	c.1120_1121delinsGA	p.R374E	Missense	9/25	-	1
9-5064946-A-T	c.1120A>T	p.R374*	Nonsense	9/25	-	1
9-5064947-G-A	c.1121G>A	p.R374K	Missense	9/25	-	2
9-5064947-G-C	c.1121G>C	p.R374T	Missense	9/25	-	2
9-5064946-A-C	c.1120A>C	p.R374=	Synonymous	9/25	-	1
9-5064948-A-G	c.1122A>G	p.R374=	Synonymous	9/25	-	1
9-5064949-T-C	c.1123T>C	p.L375=	Synonymous	9/25	-	2
9-5064951-A-G	c.1125A>G	p.L375=	Synonymous	9/25	-	2
9-5064951-TAACTGCAGATGCACATCATTACC-T	c.1125_1147del	p.L375Ffs*3	Frameshift	9/25	-	1
9-5064950-TA-T	c.1126del	p.T376Lfs*12	Frameshift	9/25	-	1
9-5064952-A-C	c.1126A>C	p.T376P	Missense	9/25	-	1
9-5064952-A-G	c.1126A>G	p.T376A	Missense	9/25	-	1
9-5064953-C-T	c.1127C>T	p.T376I	Missense	9/25	-	1
9-5064955-TGCAGATGCAC-T	c.1129_1138del	p.A377Ifs*8	Frameshift	9/25	-	1
9-5064956-C-A	c.1130C>A	p.A377E	Missense	9/25	-	3
9-5064956-C-T	c.1130C>T	p.A377V	Missense	9/25	-	1
9-5064958-G-A	c.1132G>A	p.D378N	Missense	9/25	-	3
9-5064958-G-T	c.1132G>T	p.D378Y	Missense	9/25	-	1
9-5064963-A-T	c.1137A>T	p.A379=	Synonymous	9/25	-	1
9-5064964-C-A	c.1138C>A	p.H380N	Missense	9/25	-	1
9-5064965-A-G	c.1139A>G	p.H380R	Missense	9/25	-	1
9-5064967-C-T	c.1141C>T	p.H381Y	Missense	9/25	-	1
9-5064968-A-C	c.1142A>C	p.H381P	Missense	9/25	-	2
9-5064968-A-G	c.1142A>G	p.H381R	Missense	9/25	-	1
9-5064968-AT-A	c.1144del	p.Y382Tfs*6	Frameshift	9/25	-	1
9-5064970-T-C	c.1144T>C	p.Y382H	Missense	9/25	-	2
9-5064971-A-G	c.1145A>G	p.Y382C	Missense	9/25	-	1
9-5064972-C-A	c.1146C>A	p.Y382*	Nonsense	9/25	-	1
9-5064973-C-G	c.1147C>G	p.L383V	Missense	9/25	-	1
9-5064974-T-C	c.1148T>C	p.L383P	Missense	9/25	-	4
9-5064976-T-C	c.1150T>C	p.C384R	Missense	9/25	-	2
9-5064977-G-A	c.1151G>A	p.C384Y	Missense	9/25	-	1
9-5064980-A-ATTGTC	c.1154_1155insTTGTC	p.K385Nfs*5	Frameshift	9/25	-	6
9-5064981-A-C	c.1155A>C	p.K385N	Missense	9/25	-	1
9-5064981-A-T	c.1155A>T	p.K385N	Missense	9/25	-	1
9-5064981-A-AG	c.1156dup	p.E386Gfs*9	Frameshift	9/25	-	1
9-5064982-G-T	c.1156G>T	p.E386*	Nonsense	9/25	-	2
9-5064983-A-G	c.1157A>G	p.E386G	Missense	9/25	-	1
9-5064984-A-C	c.1158A>C	p.E386D	Missense	9/25	-	1
9-5064984-A-G	c.1158A>G	p.E386=	Synonymous	9/25	-	1
9-5064984-A-T	c.1158A>T	p.E386D	Missense	9/25	-	1
9-5064985-G-A	c.1159G>A	p.V387I	Missense	9/25	-	1
9-5064985-G-C	c.1159G>C	p.V387L	Missense	9/25	-	1
9-5064985-G-T	c.1159G>T	p.V387L	Missense	9/25	-	1
9-5064986-T-G	c.1160T>G	p.V387G	Missense	9/25	-	1
9-5064988-G-A	c.1162G>A	p.A388T	Missense	9/25	-	1
9-5064991-C-G	c.1165C>G	p.P389A	Missense	9/25	-	1
9-5064994-C-T	c.1168C>T	p.P390S	Missense	9/25	-	1
9-5064995-C-T	c.1169C>T	p.P390L	Missense	9/25	-	2
9-5064997-G-A	c.1171G>A	p.A391T	Missense	9/25	-	1
9-5064997-G-C	c.1171G>C	p.A391P	Missense	9/25	-	1
9-5064997-G-T	c.1171G>T	p.A391S	Missense	9/25	-	2
9-5064998-CC-AG	c.1172_1173delinsAG	p.A391E	Missense	9/25	-	2
9-5064998-C-T	c.1172C>T	p.A391V	Missense	9/25	-	1
9-5064999-C-A	c.1173C>A	p.A391=	Synonymous	9/25	-	1
9-5064999-C-G	c.1173C>G	p.A391=	Synonymous	9/25	-	1
9-5064999-C-T	c.1173C>T	p.A391=	Synonymous	9/25	-	2
9-5065000-G-A	c.1174G>A	p.V392M	Missense	9/25	-	15
9-5065001-T-C	c.1175T>C	p.V392A	Missense	9/25	-	1
9-5065003-C-A	c.1177C>A	p.L393I	Missense	9/25	-	1
9-5065003-C-G	c.1177C>G	p.L393V	Missense	9/25	-	24
9-5065004-T-C	c.1178T>C	p.L393P	Missense	9/25	-	1
9-5065006-G-A	c.1180G>A	p.E394K	Missense	9/25	-	2
9-5065008-A-C	c.1182A>C	p.E394D	Missense	9/25	-	1
9-5065008-A-G	c.1182A>G	p.E394=	Synonymous	9/25	-	1
9-5065012-A-G	c.1186A>G	p.I396V	Missense	9/25	-	1
9-5065012-AT-GA	c.1186_1187delinsGA	p.I396E	Missense	9/25	-	1
9-5065015-C-G	c.1189C>G	p.Q397E	Missense	9/25	-	1
9-5065017-A-C	c.1191A>C	p.Q397H	Missense	9/25	-	1
9-5065018-A-C	c.1192A>C	p.S398R	Missense	9/25	-	1
9-5065018-AG-GC	c.1192_1193delinsGC	p.S398A	Missense	9/25	-	1
9-5065018-AG-TT	c.1192_1193delinsTT	p.S398F	Missense	9/25	-	1
9-5065019-G-A	c.1193G>A	p.S398N	Missense	9/25	-	1
9-5065019-G-T	c.1193G>T	p.S398I	Missense	9/25	-	1
9-5065024-T-G	c.1198T>G	p.C400G	Missense	9/25	-	1
9-5065024-TG-GC	c.1198_1199delinsGC	p.C400A	Missense	9/25	-	2
9-5065025-G-C	c.1199G>C	p.C400S	Missense	9/25	-	2
9-5065026-T-TGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAGAAGAATGAA	c.1200_1201insGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAGAAGAATGAA	p.H401Dfs*7	Frameshift	9/25	-	1
9-5064962-C-CACATCATTACCTCTGTAAAGAAGTAGCACCTCCAGCCGTGCTTGAAAATATACAAAGCAACTGTCACG	c.1202_1203insCGACATCATTACCTCTGTAAAGAAGTAGCACCTCCAGCCGTGCTTGAAAATATACAAAGCAACTGTCA	p.G402Dfs*9	Frameshift	9/25	-	1
9-5065029-T-A	c.1203T>A	p.H401Q	Missense	9/25	-	1
9-5065029-T-G	c.1203T>G	p.H401Q	Missense	9/25	-	1
9-5065030-G-A	c.1204G>A	p.G402S	Missense	9/25	-	4
9-5065030-G-C	c.1204G>C	p.G402R	Missense	9/25	-	2
9-5065031-G-A	c.1205G>A	p.G402D	Missense	9/25	-	1
9-5065034-C-T	c.1208C>T	p.P403L	Missense	9/25	-	1
9-5065035-A-G	c.1209A>G	p.P403=	Synonymous	9/25	-	1
9-5065035-A-T	c.1209A>T	p.P403=	Synonymous	9/25	-	1
9-5065037-T-A	c.1211T>A	p.I404N	Missense	9/25	-	1
9-5065039-T-G	c.1213T>G	p.S405A	Missense	9/25	-	1
9-5065040-C-T	c.1214C>T	p.S405L	Missense	9/25	-	4
9-5065041-G-A	c.1214+1G>A	-	IntronicSNV	-	9/24	1
9-5065041-G-C	c.1214+1G>C	-	IntronicSNV	-	9/24	3
9-5065750-G-C	c.1214+710G>C	-	IntronicSNV	-	9/24	10
9-5066560-A-T	c.1215-118A>T	-	IntronicSNV	-	9/24	1
9-5066617-A-T	c.1215-61A>T	-	IntronicSNV	-	9/24	1
9-5066666-C-T	c.1215-12C>T	-	IntronicSNV	-	9/24	1
9-5066678-G-A	c.1215G>A	p.S405=	Synonymous	10/25	-	1
9-5066678-G-C	c.1215G>C	p.S405=	Synonymous	10/25	-	1
9-5066678-G-T	c.1215G>T	p.S405=	Synonymous	10/25	-	1
9-5066681-G-A	c.1218G>A	p.M406I	Missense	10/25	-	1
9-5066682-G-A	c.1219G>A	p.D407N	Missense	10/25	-	2
9-5066682-GAT-TGG	c.1219_1221delinsTGG	p.D407W	Missense	10/25	-	1
9-5066682-G-C	c.1219G>C	p.D407H	Missense	10/25	-	2
9-5066684-T-A	c.1221T>A	p.D407E	Missense	10/25	-	1
9-5066684-T-G	c.1221T>G	p.D407E	Missense	10/25	-	1
9-5066689-CC-AG	c.1226_1227delinsAG	p.A409E	Missense	10/25	-	3
9-5066689-C-T	c.1226C>T	p.A409V	Missense	10/25	-	1
9-5066691-A-C	c.1228A>C	p.I410L	Missense	10/25	-	1
9-5066695-G-A	c.1232G>A	p.S411N	Missense	10/25	-	1
9-5066699-A-T	c.1236A>T	p.K412N	Missense	10/25	-	1
9-5066700-C-G	c.1237C>G	p.L413V	Missense	10/25	-	1
9-5066701-T-C	c.1238T>C	p.L413P	Missense	10/25	-	1
9-5066702-TGAAGAAAGCAGGTAATCAG-T	c.1239_1257del	p.K414Lfs*18	Frameshift	10/25	-	1
9-5066703-A-G	c.1240A>G	p.K414E	Missense	10/25	-	1
9-5066705-G-C	c.1242G>C	p.K414N	Missense	10/25	-	3
9-5066705-G-T	c.1242G>T	p.K414N	Missense	10/25	-	4
9-5066706-A-ATTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAGGCGTAC	c.1243_1244insTTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAGGCGTAC	p.K415Ifs*31	Frameshift	10/25	-	1
9-5066712-G-A	c.1249G>A	p.G417S	Missense	10/25	-	4
9-5066712-G-C	c.1249G>C	p.G417R	Missense	10/25	-	1
9-5066712-GG-CC	c.1249_1250inv	p.G417P	Missense	10/25	-	1
9-5066713-G-A	c.1250G>A	p.G417D	Missense	10/25	-	1
9-5066714-T-A	c.1251T>A	p.G417=	Synonymous	10/25	-	1
9-5066714-T-C	c.1251T>C	p.G417=	Synonymous	10/25	-	1
9-5066714-T-G	c.1251T>G	p.G417=	Synonymous	10/25	-	1
9-5066716-A-G	c.1253A>G	p.N418S	Missense	10/25	-	1
9-5066720-G-C	c.1257G>C	p.Q419H	Missense	10/25	-	1
9-5066720-G-T	c.1257G>T	p.Q419H	Missense	10/25	-	1
9-5066721-A-T	c.1258A>T	p.T420S	Missense	10/25	-	1
9-5066722-C-G	c.1259C>G	p.T420S	Missense	10/25	-	1
9-5066722-C-T	c.1259C>T	p.T420I	Missense	10/25	-	1
9-5066724-GGA-TGT	c.1261_1263delinsTGT	p.G421C	Missense	10/25	-	1
9-5066725-G-T	c.1262G>T	p.G421V	Missense	10/25	-	1
9-5066728-T-C	c.1265T>C	p.L422P	Missense	10/25	-	1
9-5066731-A-G	c.1268A>G	p.Y423C	Missense	10/25	-	1
9-5066734-T-C	c.1271T>C	p.V424A	Missense	10/25	-	1
9-5066736-C-T	c.1273C>T	p.L425F	Missense	10/25	-	1
9-5066738-T-A	c.1275T>A	p.L425=	Synonymous	10/25	-	1
9-5066738-T-C	c.1275T>C	p.L425=	Synonymous	10/25	-	1
9-5066738-T-G	c.1275T>G	p.L425=	Synonymous	10/25	-	1
9-5066739-CGA-AGC	c.1276_1278delinsAGC	p.R426S	Missense	10/25	-	1
9-5066739-CG-GC	c.1276_1277delinsGC	p.R426A	Missense	10/25	-	1
9-5066739-C-T	c.1276C>T	p.R426*	Nonsense	10/25	-	6
9-5066740-G-A	c.1277G>A	p.R426Q	Missense	10/25	-	5
9-5066742-TG-GC	c.1279_1280delinsGC	p.C427A	Missense	10/25	-	1
9-5066743-G-A	c.1280G>A	p.C427Y	Missense	10/25	-	1
9-5066744-C-G	c.1281C>G	p.C427W	Missense	10/25	-	1
9-5066745-AG-TT	c.1282_1283delinsTT	p.S428F	Missense	10/25	-	2
9-5066746-G-A	c.1283G>A	p.S428N	Missense	10/25	-	2
9-5066747-T-C	c.1284T>C	p.S428=	Synonymous	10/25	-	1
9-5066748-CC-TA	c.1285_1286delinsTA	p.P429Y	Missense	10/25	-	1
9-5066750-T-A	c.1287T>A	p.P429=	Synonymous	10/25	-	4
9-5066750-T-C	c.1287T>C	p.P429=	Synonymous	10/25	-	4
9-5066750-T-G	c.1287T>G	p.P429=	Synonymous	10/25	-	5
9-5066751-A-C	c.1288A>C	p.K430Q	Missense	10/25	-	1
9-5066751-A-T	c.1288A>T	p.K430*	Nonsense	10/25	-	1
9-5066752-A-G	c.1289A>G	p.K430R	Missense	10/25	-	1
9-5066753-G-C	c.1290G>C	p.K430N	Missense	10/25	-	1
9-5066753-G-T	c.1290G>T	p.K430N	Missense	10/25	-	1
9-5066754-G-A	c.1291G>A	p.D431N	Missense	10/25	-	1
9-5066755-A-T	c.1292A>T	p.D431V	Missense	10/25	-	1
9-5066756-C-G	c.1293C>G	p.D431E	Missense	10/25	-	1
9-5066761-A-G	c.1298A>G	p.N433S	Missense	10/25	-	6
9-5066761-A-T	c.1298A>T	p.N433I	Missense	10/25	-	1
9-5066762-T-A	c.1299T>A	p.N433K	Missense	10/25	-	1
9-5066762-T-G	c.1299T>G	p.N433K	Missense	10/25	-	1
9-5066772-T-TAA	c.1309_1310insAA	p.L437*	Nonsense	10/25	-	1
9-5066767-A-AT	c.1310dup	p.L437Ffs*12	Frameshift	10/25	-	1
9-5066767-AT-A	c.1310del	p.L437*	Frameshift	10/25	-	3
9-5066773-T-C	c.1310T>C	p.L437S	Missense	10/25	-	1
9-5066776-AC-A	c.1313del	p.T438Ifs*16	Frameshift	10/25	-	1
9-5066781-G-A	c.1318G>A	p.A440T	Missense	10/25	-	1
9-5066782-C-A	c.1319C>A	p.A440D	Missense	10/25	-	1
9-5066784-G-A	c.1321G>A	p.V441I	Missense	10/25	-	1
9-5066786-C-A	c.1323C>A	p.V441=	Synonymous	10/25	-	1
9-5066786-C-G	c.1323C>G	p.V441=	Synonymous	10/25	-	1
9-5066786-C-T	c.1323C>T	p.V441=	Synonymous	10/25	-	1
9-5066787-G-A	c.1324G>A	p.E442K	Missense	10/25	-	8
9-5066787-G-C	c.1324G>C	p.E442Q	Missense	10/25	-	4
9-5066787-G-T	c.1324G>T	p.E442*	Nonsense	10/25	-	1
9-5066868-C-T	c.1326+79C>T	-	IntronicSNV	-	10/24	1
9-5066942-C-T	c.1326+153C>T	-	IntronicSNV	-	10/24	2
9-5067298-C-T	c.1326+509C>T	-	IntronicSNV	-	10/24	3
9-5067301-C-A	c.1326+512C>A	-	IntronicSNV	-	10/24	1
9-5067301-C-T	c.1326+512C>T	-	IntronicSNV	-	10/24	1
9-5068520-T-C	c.1327-502T>C	-	IntronicSNV	-	10/24	4
9-5068520-T-G	c.1327-502T>G	-	IntronicSNV	-	10/24	4
9-5068596-T-C	c.1327-426T>C	-	IntronicSNV	-	10/24	2
9-5068755-T-C	c.1327-267T>C	-	IntronicSNV	-	10/24	15
9-5068755-T-G	c.1327-267T>G	-	IntronicSNV	-	10/24	15
9-5069022-CGA-TGT	c.1327_1329delinsTGT	p.R443C	Missense	11/25	-	1
9-5069022-C-T	c.1327C>T	p.R443*	Nonsense	11/25	-	3
9-5069023-G-C	c.1328G>C	p.R443P	Missense	11/25	-	1
9-5069023-G-T	c.1328G>T	p.R443L	Missense	11/25	-	2
9-5069025-G-A	c.1330G>A	p.E444K	Missense	11/25	-	2
9-5069025-G-T	c.1330G>T	p.E444*	Nonsense	11/25	-	3
9-5069030-T-C	c.1335T>C	p.N445=	Synonymous	11/25	-	1
9-5069031-GTC-ATG	c.1336_1338delinsATG	p.V446M	Missense	11/25	-	1
9-5069032-T-TC	c.1338dup	p.I447Hfs*2	Frameshift	11/25	-	1
9-5069035-ATT-A	c.1340_1341del	p.I447Rfs*3	Frameshift	11/25	-	1
9-5069037-G-A	c.1342G>A	p.E448K	Missense	11/25	-	2
9-5069041-A-G	c.1346A>G	p.Y449C	Missense	11/25	-	1
9-5069041-A-T	c.1346A>T	p.Y449F	Missense	11/25	-	1
9-5069045-A-C	c.1350A>C	p.K450N	Missense	11/25	-	1
9-5069045-A-T	c.1350A>T	p.K450N	Missense	11/25	-	1
9-5069047-A-C	c.1352A>C	p.H451P	Missense	11/25	-	1
9-5069048-ACT-A	c.1353_1354del	p.H451Qfs*7	Frameshift	11/25	-	3
9-5069050-G-A	c.1355G>A	p.C452Y	Missense	11/25	-	1
9-5069050-G-T	c.1355G>T	p.C452F	Missense	11/25	-	5
9-5069052-T-C	c.1357T>C	p.L453=	Synonymous	11/25	-	3
9-5069054-G-A	c.1359G>A	p.L453=	Synonymous	11/25	-	3
9-5069055-A-C	c.1360A>C	p.I454L	Missense	11/25	-	2
9-5069057-T-G	c.1362T>G	p.I454M	Missense	11/25	-	1
9-5069058-A-C	c.1363A>C	p.T455P	Missense	11/25	-	1
9-5069058-AC-GG	c.1363_1364delinsGG	p.T455G	Missense	11/25	-	1
9-5069058-A-G	c.1363A>G	p.T455A	Missense	11/25	-	1
9-5069058-A-T	c.1363A>T	p.T455S	Missense	11/25	-	1
9-5069060-A-C	c.1365A>C	p.T455=	Synonymous	11/25	-	1
9-5069060-A-G	c.1365A>G	p.T455=	Synonymous	11/25	-	2
9-5069060-A-T	c.1365A>T	p.T455=	Synonymous	11/25	-	1
9-5069059-CA-C	c.1370del	p.N457Mfs*22	Frameshift	11/25	-	2
9-5069059-C-CA	c.1370dup	p.N457Kfs*2	Frameshift	11/25	-	3
9-5069065-A-C	c.1370A>C	p.N457T	Missense	11/25	-	1
9-5069067-G-T	c.1372G>T	p.E458*	Nonsense	11/25	-	1
9-5069068-A-G	c.1373A>G	p.E458G	Missense	11/25	-	1
9-5069069-G-A	c.1374G>A	p.E458=	Synonymous	11/25	-	1
9-5069075-A-G	c.1380A>G	p.E460=	Synonymous	11/25	-	1
9-5069076-G-A	c.1381G>A	p.E461K	Missense	11/25	-	1
9-5069077-A-G	c.1382A>G	p.E461G	Missense	11/25	-	1
9-5069077-A-T	c.1382A>T	p.E461V	Missense	11/25	-	1
9-5069078-G-C	c.1383G>C	p.E461D	Missense	11/25	-	1
9-5069078-G-T	c.1383G>T	p.E461D	Missense	11/25	-	1
9-5069081-C-A	c.1386C>A	p.Y462*	Nonsense	11/25	-	1
9-5069081-C-G	c.1386C>G	p.Y462*	Nonsense	11/25	-	1
9-5069082-A-T	c.1387A>T	p.N463Y	Missense	11/25	-	1
9-5069087-C-A	c.1392C>A	p.L464=	Synonymous	11/25	-	1
9-5069087-C-G	c.1392C>G	p.L464=	Synonymous	11/25	-	1
9-5069087-C-T	c.1392C>T	p.L464=	Synonymous	11/25	-	1
9-5069088-AGT-TGA	c.1393_1395delinsTGA	p.S465*	Nonsense	11/25	-	1
9-5069089-G-T	c.1394G>T	p.S465I	Missense	11/25	-	1
9-5069091-G-A	c.1396G>A	p.G466R	Missense	11/25	-	2
9-5069091-G-C	c.1396G>C	p.G466R	Missense	11/25	-	1
9-5069091-G-T	c.1396G>T	p.G466W	Missense	11/25	-	1
9-5069092-G-A	c.1397G>A	p.G466E	Missense	11/25	-	1
9-5069092-G-C	c.1397G>C	p.G466A	Missense	11/25	-	1
9-5069092-GG-AC	c.1397_1398delinsAC	p.G466D	Missense	11/25	-	1
9-5069092-G-T	c.1397G>T	p.G466V	Missense	11/25	-	1
9-5069095-C-T	c.1400C>T	p.T467I	Missense	11/25	-	1
9-5069099-G-A	c.1404G>A	p.K468=	Synonymous	11/25	-	2
9-5069099-G-C	c.1404G>C	p.K468N	Missense	11/25	-	1
9-5069101-A-C	c.1406A>C	p.K469T	Missense	11/25	-	1
9-5069101-A-G	c.1406A>G	p.K469R	Missense	11/25	-	2
9-5069101-AG-TC	c.1406_1407delinsTC	p.K469I	Missense	11/25	-	1
9-5069102-G-C	c.1407G>C	p.K469N	Missense	11/25	-	1
9-5069102-G-T	c.1407G>T	p.K469N	Missense	11/25	-	5
9-5069109-A-G	c.1414A>G	p.S472G	Missense	11/25	-	1
9-5069109-AGC-TGA	c.1414_1416delinsTGA	p.S472*	Nonsense	11/25	-	1
9-5069109-AG-TT	c.1414_1415delinsTT	p.S472F	Missense	11/25	-	1
9-5069110-G-A	c.1415G>A	p.S472N	Missense	11/25	-	1
9-5069110-G-T	c.1415G>T	p.S472I	Missense	11/25	-	2
9-5069112-AG-GC	c.1417_1418delinsGC	p.S473A	Missense	11/25	-	1
9-5069112-A-T	c.1417A>T	p.S473C	Missense	11/25	-	1
9-5069113-G-A	c.1418G>A	p.S473N	Missense	11/25	-	1
9-5069112-A-C	c.1417A>C	p.S473R	Missense	11/25	-	1
9-5069115-C-G	c.1420C>G	p.L474V	Missense	11/25	-	1
9-5069118-A-T	c.1423A>T	p.K475*	Nonsense	11/25	-	1
9-5069121-G-A	c.1426G>A	p.D476N	Missense	11/25	-	1
9-5069121-G-T	c.1426G>T	p.D476Y	Missense	11/25	-	1
9-5069124-C-T	c.1429C>T	p.L477F	Missense	11/25	-	2
9-5069125-T-G	c.1430T>G	p.L477R	Missense	11/25	-	1
9-5069128-T-C	c.1433T>C	p.L478S	Missense	11/25	-	1
9-5069131-A-C	c.1436A>C	p.N479T	Missense	11/25	-	1
9-5069133-TG-GA	c.1438_1439delinsGA	p.C480D	Missense	11/25	-	1
9-5069134-G-T	c.1439G>T	p.C480F	Missense	11/25	-	2
9-5069136-T-G	c.1441T>G	p.Y481D	Missense	11/25	-	1
9-5069139-C-T	c.1444C>T	p.Q482*	Nonsense	11/25	-	1
9-5069140-A-C	c.1445A>C	p.Q482P	Missense	11/25	-	1
9-5069141-G-A	c.1446G>A	p.Q482=	Synonymous	11/25	-	2
9-5069141-G-C	c.1446G>C	p.Q482H	Missense	11/25	-	3
9-5069141-G-T	c.1446G>T	p.Q482H	Missense	11/25	-	2
9-5069143-T-A	c.1448T>A	p.M483K	Missense	11/25	-	1
9-5069143-T-G	c.1448T>G	p.M483R	Missense	11/25	-	1
9-5069144-G-A	c.1449G>A	p.M483I	Missense	11/25	-	3
9-5069144-G-C	c.1449G>C	p.M483I	Missense	11/25	-	1
9-5069144-G-T	c.1449G>T	p.M483I	Missense	11/25	-	1
9-5069145-G-A	c.1450G>A	p.E484K	Missense	11/25	-	15
9-5069145-G-C	c.1450G>C	p.E484Q	Missense	11/25	-	5
9-5069145-G-T	c.1450G>T	p.E484*	Nonsense	11/25	-	1
9-5069146-A-C	c.1451A>C	p.E484A	Missense	11/25	-	1
9-5069146-A-G	c.1451A>G	p.E484G	Missense	11/25	-	2
9-5069149-CT-AG	c.1454_1455inv	p.T485K	Missense	11/25	-	1
9-5069153-T-G	c.1458T>G	p.V486=	Synonymous	11/25	-	2
9-5069154-C-A	c.1459C>A	p.R487S	Missense	11/25	-	1
9-5069154-C-G	c.1459C>G	p.R487G	Missense	11/25	-	1
9-5069154-CG-AC	c.1459_1460delinsAC	p.R487T	Missense	11/25	-	1
9-5069154-C-T	c.1459C>T	p.R487C	Missense	11/25	-	11
9-5069155-G-A	c.1460G>A	p.R487H	Missense	11/25	-	3
9-5069158-C-A	c.1463C>A	p.S488*	Nonsense	11/25	-	1
9-5069158-C-G	c.1463C>G	p.S488*	Nonsense	11/25	-	2
9-5069158-C-T	c.1463C>T	p.S488L	Missense	11/25	-	2
9-5069159-A-AT	c.1464_1465insT	p.D489*	Nonsense	11/25	-	1
9-5069160-G-A	c.1465G>A	p.D489N	Missense	11/25	-	1
9-5069161-A-C	c.1466A>C	p.D489A	Missense	11/25	-	1
9-5069161-A-G	c.1466A>G	p.D489G	Missense	11/25	-	2
9-5069162-C-A	c.1467C>A	p.D489E	Missense	11/25	-	1
9-5069164-A-G	c.1469A>G	p.N490S	Missense	11/25	-	2
9-5069167-T-A	c.1472T>A	p.I491K	Missense	11/25	-	2
9-5069168-A-C	c.1473A>C	p.I491=	Synonymous	11/25	-	1
9-5069168-A-T	c.1473A>T	p.I491=	Synonymous	11/25	-	1
9-5069170-T-C	c.1475T>C	p.I492T	Missense	11/25	-	1
9-5069174-C-T	c.1479C>T	p.F493=	Synonymous	11/25	-	7
9-5069175-C-T	c.1480C>T	p.Q494*	Nonsense	11/25	-	1
9-5069176-A-C	c.1481A>C	p.Q494P	Missense	11/25	-	1
9-5069177-G-A	c.1482G>A	p.Q494=	Synonymous	11/25	-	1
9-5069177-G-C	c.1482G>C	p.Q494H	Missense	11/25	-	1
9-5069177-G-T	c.1482G>T	p.Q494H	Missense	11/25	-	1
9-5069178-T-C	c.1483T>C	p.F495L	Missense	11/25	-	2
9-5069181-A-G	c.1486A>G	p.T496A	Missense	11/25	-	1
9-5069182-C-G	c.1487C>G	p.T496S	Missense	11/25	-	1
9-5069182-CT-TG	c.1487_1488delinsTG	p.T496M	Missense	11/25	-	1
9-5069186-A-G	c.1491A>G	p.K497=	Synonymous	11/25	-	1
9-5069187-T-A	c.1492T>A	p.C498S	Missense	11/25	-	1
9-5069188-G-C	c.1493G>C	p.C498S	Missense	11/25	-	1
9-5069188-G-A	c.1493G>A	p.C498Y	Missense	11/25	-	1
9-5069188-G-T	c.1493G>T	p.C498F	Missense	11/25	-	1
9-5069195-C-A	c.1500C>A	p.P500=	Synonymous	11/25	-	1
9-5069195-C-G	c.1500C>G	p.P500=	Synonymous	11/25	-	1
9-5069195-C-T	c.1500C>T	p.P500=	Synonymous	11/25	-	1
9-5069196-C-G	c.1501C>G	p.P501A	Missense	11/25	-	1
9-5069196-C-T	c.1501C>T	p.P501S	Missense	11/25	-	3
9-5069192-TC-T	c.1502del	p.P501Qfs*10	Frameshift	11/25	-	2
9-5069192-T-TC	c.1502dup	p.P503Afs*4	Frameshift	11/25	-	2
9-5069197-C-A	c.1502C>A	p.P501Q	Missense	11/25	-	1
9-5069197-C-T	c.1502C>T	p.P501L	Missense	11/25	-	1
9-5069202-C-A	c.1507C>A	p.P503T	Missense	11/25	-	1
9-5069202-C-G	c.1507C>G	p.P503A	Missense	11/25	-	2
9-5069203-C-T	c.1508C>T	p.P503L	Missense	11/25	-	5
9-5069205-AA-GC	c.1510_1511delinsGC	p.K504A	Missense	11/25	-	1
9-5069205-A-C	c.1510A>C	p.K504Q	Missense	11/25	-	1
9-5069208-G-A	c.1513G>A	p.D505N	Missense	11/25	-	1
9-5069266-G-A	c.1513+58G>A	-	IntronicSNV	-	11/24	1
9-5069522-C-T	c.1513+314C>T	-	IntronicSNV	-	11/24	1
9-5069837-G-A	c.1514-88G>A	-	IntronicSNV	-	11/24	11
9-5069925-GA-G	c.1514del	p.D505Vfs*6	Frameshift	12/25	-	1
9-5069927-AA-GC	c.1516_1517delinsGC	p.K506A	Missense	12/25	-	1
9-5069927-A-T	c.1516A>T	p.K506*	Nonsense	12/25	-	1
9-5069926-T-TA	c.1518dup	p.S507Ifs*13	Frameshift	12/25	-	1
9-5069929-A-G	c.1518A>G	p.K506=	Synonymous	12/25	-	2
9-5069930-TC-GG	c.1519_1520delinsGG	p.S507G	Missense	12/25	-	1
9-5069930-T-G	c.1519T>G	p.S507A	Missense	12/25	-	1
9-5069931-C-A	c.1520C>A	p.S507*	Nonsense	12/25	-	3
9-5069931-CA-AT	c.1520_1521delinsAT	p.S507Y	Missense	12/25	-	1
9-5069931-C-G	c.1520C>G	p.S507*	Nonsense	12/25	-	3
9-5069931-C-T	c.1520C>T	p.S507L	Missense	12/25	-	1
9-5069933-A-G	c.1522A>G	p.N508D	Missense	12/25	-	1
9-5069931-C-CA	c.1523dup	p.N508Kfs*12	Frameshift	12/25	-	1
9-5069934-A-G	c.1523A>G	p.N508S	Missense	12/25	-	1
9-5069935-C-T	c.1524C>T	p.N508=	Synonymous	12/25	-	1
9-5069936-C-G	c.1525C>G	p.L509V	Missense	12/25	-	2
9-5069936-CT-GC	c.1525_1526delinsGC	p.L509A	Missense	12/25	-	1
9-5069937-T-C	c.1526T>C	p.L509P	Missense	12/25	-	1
9-5069935-CCTT-C	c.1527_1529del	p.L510del	InFrameDeletion	12/25	-	1
9-5069936-CT-C	c.1527del	p.L510*	Frameshift	12/25	-	1
9-5069938-T-A	c.1527T>A	p.L509=	Synonymous	12/25	-	1
9-5069938-T-C	c.1527T>C	p.L509=	Synonymous	12/25	-	1
9-5069938-T-G	c.1527T>G	p.L509=	Synonymous	12/25	-	1
9-5069939-CTA-TGT	c.1528_1530delinsTGT	p.L510C	Missense	12/25	-	1
9-5069939-CT-GC	c.1528_1529delinsGC	p.L510A	Missense	12/25	-	1
9-5069940-T-C	c.1529T>C	p.L510P	Missense	12/25	-	2
9-5069942-G-A	c.1531G>A	p.V511I	Missense	12/25	-	1
9-5069942-G-T	c.1531G>T	p.V511F	Missense	12/25	-	1
9-5069942-GT-CG	c.1531_1532delinsCG	p.V511R	Missense	12/25	-	1
9-5069945-TT-GC	c.1534_1535delinsGC	p.F512A	Missense	12/25	-	1
9-5069947-C-CAACTTT	c.1537_1538insACTTTA	p.F512_R513insNF	InFrameInsertion	12/25	-	1
9-5069948-AGA-CAT	c.1537_1539delinsCAT	p.R513H	Missense	12/25	-	1
9-5069948-AGA-TGT	c.1537_1539delinsTGT	p.R513C	Missense	12/25	-	2
9-5069948-AG-CA	c.1537_1538delinsCA	p.R513Q	Missense	12/25	-	1
9-5069948-AG-GC	c.1537_1538delinsGC	p.R513A	Missense	12/25	-	1
9-5069949-G-A	c.1538G>A	p.R513K	Missense	12/25	-	2
9-5069951-A-G	c.1540A>G	p.T514A	Missense	12/25	-	2
9-5069951-A-T	c.1540A>T	p.T514S	Missense	12/25	-	1
9-5069952-C-T	c.1541C>T	p.T514M	Missense	12/25	-	7
9-5069953-G-A	c.1542G>A	p.T514=	Synonymous	12/25	-	6
9-5069953-G-C	c.1542G>C	p.T514=	Synonymous	12/25	-	3
9-5069953-G-T	c.1542G>T	p.T514=	Synonymous	12/25	-	3
9-5069954-AA-GC	c.1543_1544delinsGC	p.N515A	Missense	12/25	-	1
9-5069955-A-C	c.1544A>C	p.N515T	Missense	12/25	-	1
9-5069957-G-A	c.1546G>A	p.G516S	Missense	12/25	-	1
9-5069957-GG-AC	c.1546_1547delinsAC	p.G516T	Missense	12/25	-	2
9-5069957-G-T	c.1546G>T	p.G516C	Missense	12/25	-	1
9-5069958-G-A	c.1547G>A	p.G516D	Missense	12/25	-	1
9-5069959-T-A	c.1548T>A	p.G516=	Synonymous	12/25	-	1
9-5069959-T-C	c.1548T>C	p.G516=	Synonymous	12/25	-	1
9-5069959-T-G	c.1548T>G	p.G516=	Synonymous	12/25	-	1
9-5069962-T-C	c.1551T>C	p.V517=	Synonymous	12/25	-	1
9-5069963-TC-CT	c.1552_1553delinsCT	p.S518L	Missense	12/25	-	1
9-5069964-C-G	c.1553C>G	p.S518C	Missense	12/25	-	2
9-5069964-C-T	c.1553C>T	p.S518F	Missense	12/25	-	1
9-5069965-T-A	c.1554T>A	p.S518=	Synonymous	12/25	-	2
9-5069965-T-C	c.1554T>C	p.S518=	Synonymous	12/25	-	2
9-5069965-T-G	c.1554T>G	p.S518=	Synonymous	12/25	-	2
9-5069966-G-C	c.1555G>C	p.D519H	Missense	12/25	-	1
9-5069966-G-GT	c.1555_1556insT	p.D519Vfs*25	Frameshift	12/25	-	1
9-5069966-G-T	c.1555G>T	p.D519Y	Missense	12/25	-	1
9-5069967-A-C	c.1556A>C	p.D519A	Missense	12/25	-	1
9-5069967-A-G	c.1556A>G	p.D519G	Missense	12/25	-	1
9-5069969-G-A	c.1558G>A	p.V520I	Missense	12/25	-	3
9-5069969-G-T	c.1558G>T	p.V520L	Missense	12/25	-	1
9-5069970-T-C	c.1559T>C	p.V520A	Missense	12/25	-	1
9-5069971-A-C	c.1560A>C	p.V520=	Synonymous	12/25	-	1
9-5069971-A-G	c.1560A>G	p.V520=	Synonymous	12/25	-	1
9-5069971-A-T	c.1560A>T	p.V520=	Synonymous	12/25	-	1
9-5069972-C-G	c.1561C>G	p.P521A	Missense	12/25	-	1
9-5069973-C-A	c.1562C>A	p.P521Q	Missense	12/25	-	1
9-5069973-C-T	c.1562C>T	p.P521L	Missense	12/25	-	1
9-5069976-CC-AG	c.1565_1566delinsAG	p.T522K	Missense	12/25	-	1
9-5069976-CC-GG	c.1565_1566inv	p.T522R	Missense	12/25	-	1
9-5069976-C-T	c.1565C>T	p.T522I	Missense	12/25	-	1
9-5069977-C-A	c.1566C>A	p.T522=	Synonymous	12/25	-	2
9-5069977-C-G	c.1566C>G	p.T522=	Synonymous	12/25	-	2
9-5069977-C-T	c.1566C>T	p.T522=	Synonymous	12/25	-	2
9-5069978-T-G	c.1567T>G	p.S523A	Missense	12/25	-	3
9-5069979-C-A	c.1568C>A	p.S523*	Nonsense	12/25	-	1
9-5069979-C-G	c.1568C>G	p.S523*	Nonsense	12/25	-	1
9-5069979-C-T	c.1568C>T	p.S523L	Missense	12/25	-	6
9-5069981-CCA-ATCCTTAGC	c.1570_1572delinsATCCTTAGC	p.P524delinsILS	MultiAAMissense	12/25	-	1
9-5069981-C-G	c.1570C>G	p.P524A	Missense	12/25	-	1
9-5069981-C-T	c.1570C>T	p.P524S	Missense	12/25	-	1
9-5069982-C-A	c.1571C>A	p.P524Q	Missense	12/25	-	2
9-5069982-C-T	c.1571C>T	p.P524L	Missense	12/25	-	4
9-5069984-A-G	c.1573A>G	p.T525A	Missense	12/25	-	1
9-5069985-CA-TG	c.1574_1575inv	p.T525M	Missense	12/25	-	1
9-5069985-C-T	c.1574C>T	p.T525I	Missense	12/25	-	1
9-5069987-T-A	c.1576T>A	p.L526I	Missense	12/25	-	2
9-5069988-T-A	c.1577T>A	p.L526*	Nonsense	12/25	-	1
9-5069988-T-G	c.1577T>G	p.L526*	Nonsense	12/25	-	1
9-5069990-CA-GC	c.1579_1580delinsGC	p.Q527A	Missense	12/25	-	1
9-5069990-C-T	c.1579C>T	p.Q527*	Nonsense	12/25	-	1
9-5069993-AG-GC	c.1582_1583delinsGC	p.R528A	Missense	12/25	-	1
9-5069994-G-A	c.1583G>A	p.R528K	Missense	12/25	-	1
9-5069994-G-T	c.1583G>T	p.R528M	Missense	12/25	-	2
9-5069993-A-C	c.1582A>C	p.R528=	Synonymous	12/25	-	2
9-5069995-G-A	c.1584G>A	p.R528=	Synonymous	12/25	-	2
9-5069995-G-C	c.1584G>C	p.R528S	Missense	12/25	-	1
9-5069995-G-T	c.1584G>T	p.R528S	Missense	12/25	-	2
9-5069996-C-G	c.1585C>G	p.P529A	Missense	12/25	-	1
9-5069996-C-T	c.1585C>T	p.P529S	Missense	12/25	-	3
9-5069997-C-A	c.1586C>A	p.P529H	Missense	12/25	-	2
9-5069997-C-T	c.1586C>T	p.P529L	Missense	12/25	-	1
9-5069998-T-C	c.1587T>C	p.P529=	Synonymous	12/25	-	1
9-5069999-A-T	c.1588A>T	p.T530S	Missense	12/25	-	1
9-5070002-C-A	c.1591C>A	p.H531N	Missense	12/25	-	1
9-5070002-C-T	c.1591C>T	p.H531Y	Missense	12/25	-	1
9-5070003-A-G	c.1592A>G	p.H531R	Missense	12/25	-	1
9-5070005-A-C	c.1594A>C	p.M532L	Missense	12/25	-	1
9-5070005-A-G	c.1594A>G	p.M532V	Missense	12/25	-	3
9-5070006-T-C	c.1595T>C	p.M532T	Missense	12/25	-	1
9-5070007-G-A	c.1596G>A	p.M532I	Missense	12/25	-	3
9-5070007-G-C	c.1596G>C	p.M532I	Missense	12/25	-	2
9-5070007-G-T	c.1596G>T	p.M532I	Missense	12/25	-	2
9-5070008-AA-GC	c.1597_1598delinsGC	p.N533A	Missense	12/25	-	1
9-5070008-A-G	c.1597A>G	p.N533D	Missense	12/25	-	5
9-5070008-A-T	c.1597A>T	p.N533Y	Missense	12/25	-	6
9-5070009-A-G	c.1598A>G	p.N533S	Missense	12/25	-	2
9-5070010-C-A	c.1599C>A	p.N533K	Missense	12/25	-	1
9-5070010-C-G	c.1599C>G	p.N533K	Missense	12/25	-	1
9-5070010-C-T	c.1599C>T	p.N533=	Synonymous	12/25	-	1
9-5070011-C-A	c.1600C>A	p.Q534K	Missense	12/25	-	1
9-5070013-A-T	c.1602A>T	p.Q534H	Missense	12/25	-	1
9-5070014-A-G	c.1603A>G	p.M535V	Missense	12/25	-	1
9-5070014-AT-GC	c.1603_1604delinsGC	p.M535A	Missense	12/25	-	1
9-5070014-ATG-TTT	c.1603_1605delinsTTT	p.M535F	Missense	12/25	-	1
9-5070015-T-A	c.1604T>A	p.M535K	Missense	12/25	-	1
9-5070015-T-C	c.1604T>C	p.M535T	Missense	12/25	-	1
9-5070016-G-A	c.1605G>A	p.M535I	Missense	12/25	-	7
9-5070016-G-C	c.1605G>C	p.M535I	Missense	12/25	-	7
9-5070016-G-T	c.1605G>T	p.M535I	Missense	12/25	-	8
9-5070018-T-A	c.1607T>A	p.V536E	Missense	12/25	-	1
9-5070019-G-A	c.1608G>A	p.V536=	Synonymous	12/25	-	2
9-5070019-G-C	c.1608G>C	p.V536=	Synonymous	12/25	-	1
9-5070019-G-T	c.1608G>T	p.V536=	Synonymous	12/25	-	1
9-5070020-T-A	c.1609T>A	p.F537I	Missense	12/25	-	1
9-5070020-T-C	c.1609T>C	p.F537L	Missense	12/25	-	4
9-5070020-TT-GC	c.1609_1610delinsGC	p.F537A	Missense	12/25	-	2
9-5070022-T-A	c.1611T>A	p.F537L	Missense	12/25	-	2
9-5070022-T-G	c.1611T>G	p.F537L	Missense	12/25	-	2
9-5070022-T-C	c.1611T>C	p.F537=	Synonymous	12/25	-	1
9-5070022-TTCACAA-T	c.1611_1616del	p.F537_K539delinsL	MultiAAMissense	12/25	-	4
9-5070023-C-A	c.1612C>A	p.H538N	Missense	12/25	-	3
9-5070023-CA-GG	c.1612_1613delinsGG	p.H538G	Missense	12/25	-	1
9-5070023-C-T	c.1612C>T	p.H538Y	Missense	12/25	-	3
9-5070023-TCACAAA-T	c.1612_1617del	p.H538_K539del	InFrameDeletion	12/25	-	1
9-5070023-TCACAA-T	c.1612_1616del	p.H538Nfs*4	Frameshift	12/25	-	1
9-5070025-CAAA-ACTT	c.1614_1617delinsACTT	p.H538_K539delinsQL	MultiAAMissense	12/25	-	1
9-5070024-ACAA-T	c.1613_1616delinsT	p.H538_K539delinsL	MultiAAMissense	12/25	-	2
9-5070024-A-G	c.1613A>G	p.H538R	Missense	12/25	-	2
9-5070024-A-T	c.1613A>T	p.H538L	Missense	12/25	-	2
9-5070023-CACA-C	c.1614_1616del	p.H538_K539delinsQ	MultiAAMissense	12/25	-	1
9-5070025-C-A	c.1614C>A	p.H538Q	Missense	12/25	-	12
9-5070025-CAA-ATT	c.1614_1616delinsATT	p.H538_K539delinsQL	MultiAAMissense	12/25	-	1
9-5070025-C-G	c.1614C>G	p.H538Q	Missense	12/25	-	12
9-5070026-AA-CT	c.1615_1616delinsCT	p.K539L	Missense	12/25	-	79
9-5070026-A-G	c.1615A>G	p.K539E	Missense	12/25	-	5
9-5070025-CAAA-C	c.1616_1618del	p.K539del	InFrameDeletion	12/25	-	4
9-5070027-A-C	c.1616A>C	p.K539T	Missense	12/25	-	2
9-5070027-A-T	c.1616A>T	p.K539I	Missense	12/25	-	7
9-5070028-A-T	c.1617A>T	p.K539N	Missense	12/25	-	1
9-5070025-CA-C	c.1618del	p.I540Sfs*6	Frameshift	12/25	-	2
9-5070029-A-G	c.1618A>G	p.I540V	Missense	12/25	-	2
9-5070029-ATC-CTTGTA	c.1618_1620delinsCTTGTA	p.I540delinsLV	MultiAAMissense	12/25	-	1
9-5070029-AT-GC	c.1618_1619delinsGC	p.I540A	Missense	12/25	-	1
9-5070030-T-A	c.1619T>A	p.I540N	Missense	12/25	-	2
9-5070030-T-C	c.1619T>C	p.I540T	Missense	12/25	-	3
9-5070030-TCAGAAATG-GAA	c.1619_1627delinsGAA	p.I540_E543delinsRK	MultiAAMissense	12/25	-	1
9-5070031-CAGAAATG-GA	c.1620_1627delinsGA	p.I540_E543delinsMK	MultiAAMissense	12/25	-	2
9-5070031-C-G	c.1620C>G	p.I540M	Missense	12/25	-	1
9-5070032-A-C	c.1621A>C	p.R541=	Synonymous	12/25	-	1
9-5070032-A-G	c.1621A>G	p.R541G	Missense	12/25	-	2
9-5070032-AGA-TGG	c.1621_1623delinsTGG	p.R541W	Missense	12/25	-	1
9-5070032-A-T	c.1621A>T	p.R541*	Nonsense	12/25	-	1
9-5070033-AGAAATG-A	c.1622_1627del	p.R541_E543delinsK	MultiAAMissense	12/25	-	1
9-5070033-G-T	c.1622G>T	p.R541I	Missense	12/25	-	1
9-5070034-A-T	c.1623A>T	p.R541S	Missense	12/25	-	1
9-5070033-GAAATGA-G	c.1624_1629del	p.N542_E543del	InFrameDeletion	12/25	-	5
9-5070035-AA-GC	c.1624_1625delinsGC	p.N542A	Missense	12/25	-	1
9-5070036-A-G	c.1625A>G	p.N542S	Missense	12/25	-	1
9-5070035-AATGAAG-A	c.1627_1632del	p.E543_D544del	InFrameDeletion	12/25	-	2
9-5070038-G-A	c.1627G>A	p.E543K	Missense	12/25	-	3
9-5070038-GAA-AAGAAG	c.1627_1629delinsAAGAAG	p.E543delinsKK	MultiAAMissense	12/25	-	1
9-5070038-GAA-ATGAAG	c.1627_1629delinsATGAAG	p.E543delinsMK	MultiAAMissense	12/25	-	5
9-5070038-G-C	c.1627G>C	p.E543Q	Missense	12/25	-	1
9-5070038-G-T	c.1627G>T	p.E543*	Nonsense	12/25	-	1
9-5070039-A-C	c.1628A>C	p.E543A	Missense	12/25	-	2
9-5070039-A-G	c.1628A>G	p.E543G	Missense	12/25	-	1
9-5070039-A-T	c.1628A>T	p.E543V	Missense	12/25	-	1
9-5070037-TGAA-T	c.1629_1631del	p.E543del	InFrameDeletion	12/25	-	35
9-5070040-A-C	c.1629A>C	p.E543D	Missense	12/25	-	3
9-5070040-A-T	c.1629A>T	p.E543D	Missense	12/25	-	4
9-5070041-AGAT-A	c.1630_1632del	p.D544del	InFrameDeletion	12/25	-	16
9-5070041-G-A	c.1630G>A	p.D544N	Missense	12/25	-	1
9-5070041-G-C	c.1630G>C	p.D544H	Missense	12/25	-	1
9-5070042-A-G	c.1631A>G	p.D544G	Missense	12/25	-	2
9-5070040-AGATTT-A	c.1633_1637del	p.L545Ifs*2	Frameshift	12/25	-	1
9-5070044-T-G	c.1633T>G	p.L545V	Missense	12/25	-	3
9-5070044-TTG-CAT	c.1633_1635delinsCAT	p.L545H	Missense	12/25	-	1
9-5070044-TTTG-T	c.1633_1635del	p.L545del	InFrameDeletion	12/25	-	2
9-5070045-T-C	c.1634T>C	p.L545S	Missense	12/25	-	1
9-5070045-TG-GT	c.1634_1635delinsGT	p.L545C	Missense	12/25	-	1
9-5070047-A-G	c.1636A>G	p.I546V	Missense	12/25	-	2
9-5070048-TA-GC	c.1637_1638delinsGC	p.I546S	Missense	12/25	-	1
9-5070050-T-C	c.1639T>C	p.F547L	Missense	12/25	-	10
9-5070050-T-G	c.1639T>G	p.F547V	Missense	12/25	-	1
9-5070052-T-A	c.1641T>A	p.F547L	Missense	12/25	-	10
9-5070052-T-G	c.1641T>G	p.F547L	Missense	12/25	-	9
9-5070051-T-C	c.1640T>C	p.F547S	Missense	12/25	-	1
9-5070051-T-G	c.1640T>G	p.F547C	Missense	12/25	-	1
9-5070053-G-T	c.1641+1G>T	-	IntronicSNV	-	12/24	1
9-5070054-T-G	c.1641+2T>G	-	IntronicSNV	-	12/24	2
9-5070058-T-C	c.1641+6T>C	-	IntronicSNV	-	12/24	4
9-5070182-C-T	c.1641+130C>T	-	IntronicSNV	-	12/24	1
9-5070227-ATTATC-A	c.1641+179_1641+183del	-	IntronicDeletion	-	12/24	2
9-5070401-A-G	c.1641+349A>G	-	IntronicSNV	-	12/24	1
9-5070831-C-G	c.1641+779C>G	-	IntronicSNV	-	12/24	46
9-5071049-G-A	c.1641+997G>A	-	IntronicSNV	-	12/24	6
9-5071942-C-G	c.1642-550C>G	-	IntronicSNV	-	12/24	3
9-5072182-C-T	c.1642-310C>T	-	IntronicSNV	-	12/24	4
9-5072493-A-AT	c.1644dup	p.E549*	Nonsense	13/25	-	1
9-5072495-G-A	c.1645G>A	p.E549K	Missense	13/25	-	1
9-5072496-A-G	c.1646A>G	p.E549G	Missense	13/25	-	1
9-5072487-T-TGAAGAATGAAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAA	c.1647_1648insGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAGAAGAATGAA	p.S550Dfs*7	Frameshift	13/25	-	1
9-5072498-AGC-TGA	c.1648_1650delinsTGA	p.S550*	Nonsense	13/25	-	1
9-5072498-AG-GC	c.1648_1649delinsGC	p.S550A	Missense	13/25	-	1
9-5072498-A-T	c.1648A>T	p.S550C	Missense	13/25	-	1
9-5072499-G-A	c.1649G>A	p.S550N	Missense	13/25	-	1
9-5072499-G-C	c.1649G>C	p.S550T	Missense	13/25	-	1
9-5072501-CT-AG	c.1651_1652inv	p.L551S	Missense	13/25	-	1
9-5072502-T-C	c.1652T>C	p.L551P	Missense	13/25	-	1
9-5072504-G-C	c.1654G>C	p.G552R	Missense	13/25	-	1
9-5072505-G-A	c.1655G>A	p.G552D	Missense	13/25	-	1
9-5072505-G-C	c.1655G>C	p.G552A	Missense	13/25	-	2
9-5072509-A-C	c.1659A>C	p.Q553H	Missense	13/25	-	1
9-5072509-A-G	c.1659A>G	p.Q553=	Synonymous	13/25	-	2
9-5072509-A-T	c.1659A>T	p.Q553H	Missense	13/25	-	1
9-5072510-G-A	c.1660G>A	p.G554S	Missense	13/25	-	1
9-5072511-G-A	c.1661G>A	p.G554D	Missense	13/25	-	2
9-5072511-G-C	c.1661G>C	p.G554A	Missense	13/25	-	1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.T555Dfs*22	Frameshift	13/25	-	1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.T555Dfs*22	Frameshift	13/25	-	1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.T555Dfs*22	Frameshift	13/25	-	1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.T555Dfs*14	Frameshift	13/25	-	1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.T555Dfs*22	Frameshift	13/25	-	1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.T555Dfs*13	Frameshift	13/25	-	1
9-5072516-T-C	c.1666T>C	p.F556L	Missense	13/25	-	3
9-5072516-T-G	c.1666T>G	p.F556V	Missense	13/25	-	13
9-5072518-T-A	c.1668T>A	p.F556L	Missense	13/25	-	2
9-5072518-T-G	c.1668T>G	p.F556L	Missense	13/25	-	2
9-5072517-T-A	c.1667T>A	p.F556Y	Missense	13/25	-	1
9-5072514-CT-C	c.1668del	p.F556Lfs*12	Frameshift	13/25	-	2
9-5072519-ACA-TGT	c.1669_1671inv	p.T557C	Missense	13/25	-	1
9-5072519-A-T	c.1669A>T	p.T557S	Missense	13/25	-	1
9-5072521-A-AGTAACTAATATCCTGATTATTTGCTGT	c.1671_1672insGTAACTAATATCCTGATTATTTGCTGT	p.T557_K558insVTNILIICC	InFrameInsertion	13/25	-	1
9-5072522-A-G	c.1672A>G	p.K558E	Missense	13/25	-	1
9-5072520-C-CA	c.1673dup	p.I559Dfs*3	Frameshift	13/25	-	1
9-5072523-A-C	c.1673A>C	p.K558T	Missense	13/25	-	1
9-5072523-A-G	c.1673A>G	p.K558R	Missense	13/25	-	1
9-5072524-G-A	c.1674G>A	p.K558=	Synonymous	13/25	-	1
9-5072524-G-C	c.1674G>C	p.K558N	Missense	13/25	-	1
9-5072525-A-C	c.1675A>C	p.I559L	Missense	13/25	-	2
9-5072525-A-T	c.1675A>T	p.I559F	Missense	13/25	-	4
9-5072525-ATT-GAG	c.1675_1677delinsGAG	p.I559E	Missense	13/25	-	1
9-5072527-T-G	c.1677T>G	p.I559M	Missense	13/25	-	1
9-5072529-T-C	c.1679T>C	p.F560S	Missense	13/25	-	1
9-5072525-A-AT	c.1680dup	p.K561*	Nonsense	13/25	-	1
9-5072530-T-G	c.1680T>G	p.F560L	Missense	13/25	-	1
9-5072534-G-C	c.1684G>C	p.G562R	Missense	13/25	-	1
9-5072535-G-A	c.1685G>A	p.G562D	Missense	13/25	-	1
9-5072536-C-A	c.1686C>A	p.G562=	Synonymous	13/25	-	1
9-5072536-C-CTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAAAGTT	c.1686_1687insTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAAAGTT	p.G562_V563insFLFKQKTAYEIPQCDWSSDVCSSDLKV	InFrameInsertion	13/25	-	1
9-5072536-C-G	c.1686C>G	p.G562=	Synonymous	13/25	-	1
9-5072536-C-T	c.1686C>T	p.G562=	Synonymous	13/25	-	3
9-5072537-G-A	c.1687G>A	p.V563I	Missense	13/25	-	6
9-5072531-A-AAAGGCGTACTTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT	c.1690_1691insTTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAGGCGTAC	p.R564Lfs*39	Frameshift	13/25	-	1
9-5072540-C-G	c.1690C>G	p.R564G	Missense	13/25	-	3
9-5072540-C-T	c.1690C>T	p.R564*	Nonsense	13/25	-	4
9-5072541-G-A	c.1691G>A	p.R564Q	Missense	13/25	-	33
9-5072541-G-T	c.1691G>T	p.R564L	Missense	13/25	-	11
9-5072543-AGA-TGG	c.1693_1695delinsTGG	p.R565W	Missense	13/25	-	2
9-5072543-AG-CA	c.1693_1694delinsCA	p.R565Q	Missense	13/25	-	1
9-5072543-AG-GC	c.1693_1694delinsGC	p.R565A	Missense	13/25	-	1
9-5072543-A-T	c.1693A>T	p.R565*	Nonsense	13/25	-	3
9-5072544-G-T	c.1694G>T	p.R565I	Missense	13/25	-	1
9-5072546-G-A	c.1696G>A	p.E566K	Missense	13/25	-	1
9-5072546-GA-TC	c.1696_1697inv	p.E566S	Missense	13/25	-	1
9-5072546-G-T	c.1696G>T	p.E566*	Nonsense	13/25	-	1
9-5072548-A-C	c.1698A>C	p.E566D	Missense	13/25	-	1
9-5072548-A-T	c.1698A>T	p.E566D	Missense	13/25	-	2
9-5072549-G-C	c.1699G>C	p.V567L	Missense	13/25	-	2
9-5072549-G-T	c.1699G>T	p.V567L	Missense	13/25	-	3
9-5072547-AAGT-A	c.1700_1702del	p.V567del	InFrameDeletion	13/25	-	1
9-5072550-T-A	c.1700T>A	p.V567E	Missense	13/25	-	2
9-5072550-T-C	c.1700T>C	p.V567A	Missense	13/25	-	7
9-5072555-G-A	c.1705G>A	p.D569N	Missense	13/25	-	1
9-5072555-G-T	c.1705G>T	p.D569Y	Missense	13/25	-	2
9-5072556-A-C	c.1706A>C	p.D569A	Missense	13/25	-	1
9-5072556-A-G	c.1706A>G	p.D569G	Missense	13/25	-	1
9-5072558-TA-CG	c.1708_1709delinsCG	p.Y570R	Missense	13/25	-	1
9-5072558-TAC-GAG	c.1708_1710delinsGAG	p.Y570E	Missense	13/25	-	1
9-5072558-T-G	c.1708T>G	p.Y570D	Missense	13/25	-	2
9-5072559-A-G	c.1709A>G	p.Y570C	Missense	13/25	-	1
9-5072559-A-T	c.1709A>T	p.Y570F	Missense	13/25	-	9
9-5072560-C-T	c.1710C>T	p.Y570=	Synonymous	13/25	-	2
9-5072561-G-A	c.1711G>A	p.G571S	Missense	13/25	-	38
9-5072561-G-C	c.1711G>C	p.G571R	Missense	13/25	-	5
9-5072561-G-T	c.1711G>T	p.G571C	Missense	13/25	-	1
9-5072562-G-A	c.1712G>A	p.G571D	Missense	13/25	-	2
9-5072564-C-T	c.1714C>T	p.Q572*	Nonsense	13/25	-	1
9-5072566-A-C	c.1716A>C	p.Q572H	Missense	13/25	-	1
9-5072566-A-T	c.1716A>T	p.Q572H	Missense	13/25	-	1
9-5072567-C-A	c.1717C>A	p.L573M	Missense	13/25	-	1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.H574Dfs*22	Frameshift	13/25	-	1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.H574Dfs*22	Frameshift	13/25	-	1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.H574Dfs*22	Frameshift	13/25	-	1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.H574Dfs*14	Frameshift	13/25	-	1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.H574Dfs*22	Frameshift	13/25	-	1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA	p.H574Dfs*13	Frameshift	13/25	-	1
9-5072570-C-A	c.1720C>A	p.H574N	Missense	13/25	-	1
9-5072571-A-G	c.1721A>G	p.H574R	Missense	13/25	-	5
9-5072572-T-C	c.1722T>C	p.H574=	Synonymous	13/25	-	1
9-5072573-G-A	c.1723G>A	p.E575K	Missense	13/25	-	2
9-5072576-A-G	c.1726A>G	p.T576A	Missense	13/25	-	1
9-5072578-A-C	c.1728A>C	p.T576=	Synonymous	13/25	-	1
9-5072578-A-G	c.1728A>G	p.T576=	Synonymous	13/25	-	1
9-5072578-A-T	c.1728A>T	p.T576=	Synonymous	13/25	-	1
9-5072577-CAG-C	c.1729_1730del	p.E577Sfs*8	Frameshift	13/25	-	7
9-5072579-G-A	c.1729G>A	p.E577K	Missense	13/25	-	4
9-5072579-G-C	c.1729G>C	p.E577Q	Missense	13/25	-	1
9-5072582-AGTT-A	c.1732_1734del	p.V578del	InFrameDeletion	13/25	-	1
9-5072583-T-C	c.1733T>C	p.V578A	Missense	13/25	-	1
9-5072585-C-A	c.1735C>A	p.L579I	Missense	13/25	-	1
9-5072585-C-T	c.1735C>T	p.L579F	Missense	13/25	-	9
9-5072586-T-C	c.1736T>C	p.L579P	Missense	13/25	-	5
9-5072588-T-C	c.1738T>C	p.L580=	Synonymous	13/25	-	1
9-5072588-T-G	c.1738T>G	p.L580V	Missense	13/25	-	1
9-5072588-TTA-ATG	c.1738_1740delinsATG	p.L580M	Missense	13/25	-	1
9-5072591-AA-GC	c.1741_1742delinsGC	p.K581A	Missense	13/25	-	7
9-5072592-A-C	c.1742A>C	p.K581T	Missense	13/25	-	1
9-5072592-A-G	c.1742A>G	p.K581R	Missense	13/25	-	5
9-5072595-T-C	c.1745T>C	p.V582A	Missense	13/25	-	1
9-5072597-CTGGATAAAG-T	c.1747_1756delinsT	p.L583_A586delinsS	MultiAAMissense	13/25	-	1
9-5072598-CTGGATAAAG-C	c.1748_1756del	p.L583_A586delinsP	MultiAAMissense	13/25	-	1
9-5072599-G-T	c.1749G>T	p.L583=	Synonymous	13/25	-	2
9-5072600-G-A	c.1750G>A	p.D584N	Missense	13/25	-	2
9-5072602-T-A	c.1752T>A	p.D584E	Missense	13/25	-	4
9-5072602-T-G	c.1752T>G	p.D584E	Missense	13/25	-	2
9-5072606-G-A	c.1756G>A	p.A586T	Missense	13/25	-	3
9-5072606-G-C	c.1756G>C	p.A586P	Missense	13/25	-	2
9-5072607-C-G	c.1757C>G	p.A586G	Missense	13/25	-	1
9-5072607-C-T	c.1757C>T	p.A586V	Missense	13/25	-	1
9-5072609-C-A	c.1759C>A	p.H587N	Missense	13/25	-	11
9-5072609-C-T	c.1759C>T	p.H587Y	Missense	13/25	-	1
9-5072610-A-G	c.1760A>G	p.H587R	Missense	13/25	-	1
9-5072612-AGA-CAT	c.1762_1764delinsCAT	p.R588H	Missense	13/25	-	1
9-5072612-AGA-TGT	c.1762_1764delinsTGT	p.R588C	Missense	13/25	-	1
9-5072612-AG-GA	c.1762_1763delinsGA	p.R588E	Missense	13/25	-	1
9-5072612-AG-GC	c.1762_1763delinsGC	p.R588A	Missense	13/25	-	3
9-5072612-A-T	c.1762A>T	p.R588*	Nonsense	13/25	-	1
9-5072611-CAG-C	c.1763_1764del	p.R588Kfs*8	Frameshift	13/25	-	7
9-5072613-GA-TG	c.1763_1764delinsTG	p.R588M	Missense	13/25	-	2
9-5072613-G-T	c.1763G>T	p.R588I	Missense	13/25	-	5
9-5072615-AA-GC	c.1765_1766delinsGC	p.N589A	Missense	13/25	-	1
9-5072615-AA-TG	c.1765_1766delinsTG	p.N589C	Missense	13/25	-	1
9-5072617-C-A	c.1767C>A	p.N589K	Missense	13/25	-	1
9-5072618-T-A	c.1768T>A	p.Y590N	Missense	13/25	-	1
9-5072618-TA-GC	c.1768_1769delinsGC	p.Y590A	Missense	13/25	-	1
9-5072618-TAT-GAG	c.1768_1770delinsGAG	p.Y590E	Missense	13/25	-	1
9-5072618-T-C	c.1768T>C	p.Y590H	Missense	13/25	-	1
9-5072619-A-C	c.1769A>C	p.Y590S	Missense	13/25	-	1
9-5072619-A-T	c.1769A>T	p.Y590F	Missense	13/25	-	3
9-5072620-T-A	c.1770T>A	p.Y590*	Nonsense	13/25	-	1
9-5072621-T-G	c.1771T>G	p.S591A	Missense	13/25	-	1
9-5072622-CA-AT	c.1772_1773delinsAT	p.S591Y	Missense	13/25	-	1
9-5072622-C-T	c.1772C>T	p.S591L	Missense	13/25	-	9
9-5072624-G-A	c.1774G>A	p.E592K	Missense	13/25	-	9
9-5072624-GA-AG	c.1774_1775delinsAG	p.E592R	Missense	13/25	-	4
9-5072624-GA-TG	c.1774_1775delinsTG	p.E592W	Missense	13/25	-	2
9-5072624-G-C	c.1774G>C	p.E592Q	Missense	13/25	-	2
9-5072625-A-C	c.1775A>C	p.E592A	Missense	13/25	-	2
9-5072626-G-C	c.1776G>C	p.E592D	Missense	13/25	-	1
9-5072627-G-T	c.1776+1G>T	-	IntronicSNV	-	13/24	1
9-5072626-GGT-G	c.1776+5_1776+6del	-	SpliceDonorDeletion	-	13/24	3
9-5072672-G-A	c.1776+46G>A	-	IntronicSNV	-	13/24	1
9-5072798-T-C	c.1776+172T>C	-	IntronicSNV	-	13/24	11
9-5072840-GCATTATGTTAGGAGTGTTATTACATTTCTGCATATACTGTGGCCTTGATTTTCAAACTT-G	c.1776+214_1776+272del	-	Unclassified	-	13/24	1
9-5072846-G-A	c.1776+220G>A	-	IntronicSNV	-	13/24	13
9-5073138-G-T	c.1776+512G>T	-	IntronicSNV	-	13/24	1
9-5073289-G-A	c.1777-409G>A	-	IntronicSNV	-	13/24	2
9-5073289-G-T	c.1777-409G>T	-	IntronicSNV	-	13/24	2
9-5073691-T-G	c.1777-7T>G	-	IntronicSNV	-	13/24	1
9-5073699-C-T	c.1778C>T	p.S593F	Missense	14/25	-	2
9-5073699-CTT-C	c.1780_1781del	p.F594Lfs*2	Frameshift	14/25	-	1
9-5073701-TT-GC	c.1780_1781delinsGC	p.F594A	Missense	14/25	-	2
9-5073699-C-CT	c.1781dup	p.F595Lfs*2	Frameshift	14/25	-	1
9-5073699-CT-C	c.1781del	p.F594Sfs*7	Frameshift	14/25	-	1
9-5073699-CTTTCT-C	c.1781_1785del	p.F594*	Frameshift	14/25	-	1
9-5073702-T-G	c.1781T>G	p.F594C	Missense	14/25	-	1
9-5073703-C-A	c.1782C>A	p.F594L	Missense	14/25	-	1
9-5073703-C-T	c.1782C>T	p.F594=	Synonymous	14/25	-	1
9-5073704-T-A	c.1783T>A	p.F595I	Missense	14/25	-	1
9-5073704-T-C	c.1783T>C	p.F595L	Missense	14/25	-	2
9-5073704-T-G	c.1783T>G	p.F595V	Missense	14/25	-	1
9-5073704-TT-GC	c.1783_1784delinsGC	p.F595A	Missense	14/25	-	8
9-5073704-TTT-AAG	c.1783_1785delinsAAG	p.F595K	Missense	14/25	-	1
9-5073706-T-A	c.1785T>A	p.F595L	Missense	14/25	-	2
9-5073706-T-G	c.1785T>G	p.F595L	Missense	14/25	-	2
9-5073705-T-A	c.1784T>A	p.F595Y	Missense	14/25	-	1
9-5073705-T-C	c.1784T>C	p.F595S	Missense	14/25	-	1
9-5073705-TT-AA	c.1784_1785inv	p.F595*	Nonsense	14/25	-	1
9-5073705-TT-GG	c.1784_1785delinsGG	p.F595W	Missense	14/25	-	1
9-5073703-C-CT	c.1785dup	p.E596*	Nonsense	14/25	-	1
9-5073703-CT-C	c.1785del	p.F595Lfs*6	Frameshift	14/25	-	1
9-5073707-G-A	c.1786G>A	p.E596K	Missense	14/25	-	4
9-5073707-GA-AG	c.1786_1787delinsAG	p.E596R	Missense	14/25	-	5
9-5073707-G-C	c.1786G>C	p.E596Q	Missense	14/25	-	1
9-5073707-G-T	c.1786G>T	p.E596*	Nonsense	14/25	-	2
9-5073708-A-C	c.1787A>C	p.E596A	Missense	14/25	-	2
9-5073709-A-C	c.1788A>C	p.E596D	Missense	14/25	-	1
9-5073709-A-T	c.1788A>T	p.E596D	Missense	14/25	-	1
9-5073710-G-A	c.1789G>A	p.A597T	Missense	14/25	-	1
9-5073710-G-AAGA	c.1789delinsAAGA	p.A597delinsKT	MultiAAMissense	14/25	-	1
9-5073710-G-C	c.1789G>C	p.A597P	Missense	14/25	-	2
9-5073710-G-T	c.1789G>T	p.A597S	Missense	14/25	-	1
9-5073711-C-T	c.1790C>T	p.A597V	Missense	14/25	-	1
9-5073713-G-A	c.1792G>A	p.A598T	Missense	14/25	-	1
9-5073713-G-C	c.1792G>C	p.A598P	Missense	14/25	-	1
9-5073713-G-GT	c.1792_1793insT	p.A598Vfs*45	Frameshift	14/25	-	1
9-5073713-G-T	c.1792G>T	p.A598S	Missense	14/25	-	1
9-5073714-C-A	c.1793C>A	p.A598E	Missense	14/25	-	1
9-5073715-A-C	c.1794A>C	p.A598=	Synonymous	14/25	-	1
9-5073715-A-G	c.1794A>G	p.A598=	Synonymous	14/25	-	1
9-5073715-A-T	c.1794A>T	p.A598=	Synonymous	14/25	-	1
9-5073717-G-A	c.1796G>A	p.S599N	Missense	14/25	-	1
9-5073717-G-T	c.1796G>T	p.S599I	Missense	14/25	-	6
9-5073716-A-C	c.1795A>C	p.S599R	Missense	14/25	-	1
9-5073718-T-A	c.1797T>A	p.S599R	Missense	14/25	-	2
9-5073718-T-C	c.1797T>C	p.S599=	Synonymous	14/25	-	1
9-5073718-T-G	c.1797T>G	p.S599R	Missense	14/25	-	2
9-5073719-A-C	c.1798A>C	p.M600L	Missense	14/25	-	2
9-5073719-A-G	c.1798A>G	p.M600V	Missense	14/25	-	1
9-5073719-A-T	c.1798A>T	p.M600L	Missense	14/25	-	1
9-5073720-T-G	c.1799T>G	p.M600R	Missense	14/25	-	1
9-5073722-A-T	c.1801A>T	p.M601L	Missense	14/25	-	1
9-5073726-G-T	c.1805G>T	p.S602I	Missense	14/25	-	1
9-5073727-C-A	c.1806C>A	p.S602R	Missense	14/25	-	1
9-5073727-C-T	c.1806C>T	p.S602=	Synonymous	14/25	-	1
9-5073728-A-C	c.1807A>C	p.K603Q	Missense	14/25	-	3
9-5073728-A-T	c.1807A>T	p.K603*	Nonsense	14/25	-	1
9-5073730-G-A	c.1809G>A	p.K603=	Synonymous	14/25	-	1
9-5073730-G-C	c.1809G>C	p.K603N	Missense	14/25	-	1
9-5073731-C-A	c.1810C>A	p.L604I	Missense	14/25	-	2
9-5073732-T-A	c.1811T>A	p.L604H	Missense	14/25	-	1
9-5073732-T-C	c.1811T>C	p.L604P	Missense	14/25	-	3
9-5073731-CT-C	c.1813del	p.S605Lfs*7	Frameshift	14/25	-	1
9-5073734-TC-CG	c.1813_1814delinsCG	p.S605R	Missense	14/25	-	1
9-5073734-T-G	c.1813T>G	p.S605A	Missense	14/25	-	1
9-5073735-C-A	c.1814C>A	p.S605Y	Missense	14/25	-	2
9-5073735-C-T	c.1814C>T	p.S605F	Missense	14/25	-	2
9-5073737-C-A	c.1816C>A	p.H606N	Missense	14/25	-	1
9-5073737-C-T	c.1816C>T	p.H606Y	Missense	14/25	-	3
9-5073739-C-A	c.1818C>A	p.H606Q	Missense	14/25	-	10
9-5073739-C-G	c.1818C>G	p.H606Q	Missense	14/25	-	7
9-5073740-A-G	c.1819A>G	p.K607E	Missense	14/25	-	1
9-5073740-A-T	c.1819A>T	p.K607*	Nonsense	14/25	-	3
9-5073741-A-G	c.1820A>G	p.K607R	Missense	14/25	-	1
9-5073742-G-C	c.1821G>C	p.K607N	Missense	14/25	-	20
9-5073742-G-GT	c.1821_1822insT	p.H608Sfs*35	Frameshift	14/25	-	1
9-5073742-G-T	c.1821G>T	p.K607N	Missense	14/25	-	11
9-5073743-C-A	c.1822C>A	p.H608N	Missense	14/25	-	10
9-5073743-C-G	c.1822C>G	p.H608D	Missense	14/25	-	1
9-5073743-C-T	c.1822C>T	p.H608Y	Missense	14/25	-	4
9-5073744-A-C	c.1823A>C	p.H608P	Missense	14/25	-	1
9-5073744-A-G	c.1823A>G	p.H608R	Missense	14/25	-	1
9-5073745-T-A	c.1824T>A	p.H608Q	Missense	14/25	-	1
9-5073744-AT-A	c.1826del	p.L609Wfs*3	Frameshift	14/25	-	1
9-5073747-T-C	c.1826T>C	p.L609S	Missense	14/25	-	4
9-5073748-G-T	c.1827G>T	p.L609F	Missense	14/25	-	1
9-5073749-G-A	c.1828G>A	p.V610I	Missense	14/25	-	1
9-5073749-G-C	c.1828G>C	p.V610L	Missense	14/25	-	1
9-5073749-G-T	c.1828G>T	p.V610F	Missense	14/25	-	1
9-5073750-T-G	c.1829T>G	p.V610G	Missense	14/25	-	1
9-5073752-T-A	c.1831T>A	p.L611I	Missense	14/25	-	1
9-5073752-T-G	c.1831T>G	p.L611V	Missense	14/25	-	15
9-5073749-G-GT	c.1832dup	p.L611Ffs*32	Frameshift	14/25	-	1
9-5073749-GT-G	c.1832del	p.L611*	Frameshift	14/25	-	2
9-5073753-T-C	c.1832T>C	p.L611S	Missense	14/25	-	36
9-5073755-A-T	c.1834A>T	p.N612Y	Missense	14/25	-	1
9-5073753-TA-T	c.1835del	p.N612Ifs*18	Frameshift	14/25	-	1
9-5073756-A-G	c.1835A>G	p.N612S	Missense	14/25	-	1
9-5073756-A-AT	c.1837dup	p.Y613Lfs*30	Frameshift	14/25	-	1
9-5073758-TAT-GAG	c.1837_1839delinsGAG	p.Y613E	Missense	14/25	-	4
9-5073759-A-G	c.1838A>G	p.Y613C	Missense	14/25	-	4
9-5073759-A-T	c.1838A>T	p.Y613F	Missense	14/25	-	5
9-5073760-T-C	c.1839T>C	p.Y613=	Synonymous	14/25	-	1
9-5073761-G-T	c.1840G>T	p.G614*	Nonsense	14/25	-	1
9-5073762-G-T	c.1841G>T	p.G614V	Missense	14/25	-	4
9-5073763-A-AT	c.1842_1843insT	p.V615Cfs*28	Frameshift	14/25	-	1
9-5073764-G-A	c.1843G>A	p.V615I	Missense	14/25	-	1
9-5073764-G-C	c.1843G>C	p.V615L	Missense	14/25	-	6
9-5073764-G-T	c.1843G>T	p.V615L	Missense	14/25	-	7
9-5073764-GTA-TTT	c.1843_1845delinsTTT	p.V615F	Missense	14/25	-	1
9-5073768-G-A	c.1847G>A	p.C616Y	Missense	14/25	-	8
9-5073768-G-T	c.1847G>T	p.C616F	Missense	14/25	-	1
9-5073769-T-C	c.1848T>C	p.C616=	Synonymous	14/25	-	1
9-5073770-G-A	c.1849G>A	p.V617I	Missense	14/25	-	61
9-5073770-G-C	c.1849G>C	p.V617L	Missense	14/25	-	5
9-5073770-G-T	c.1849G>T	p.V617F	Missense	14/25	-	3720
9-5073770-GT-AC	c.1849_1850inv	p.V617T	Missense	14/25	-	1
9-5073770-GTC-AAG	c.1849_1851delinsAAG	p.V617K	Missense	14/25	-	2
9-5073770-GTC-ATG	c.1849_1851delinsATG	p.V617M	Missense	14/25	-	1
9-5073770-GT-CC	c.1849_1850delinsCC	p.V617P	Missense	14/25	-	2
9-5073770-GTC-TAA	c.1849_1851delinsTAA	p.V617*	Nonsense	14/25	-	1
9-5073770-GTC-TGG	c.1849_1851delinsTGG	p.V617W	Missense	14/25	-	1
9-5073770-GT-TA	c.1849_1850delinsTA	p.V617Y	Missense	14/25	-	1
9-5073770-GT-TG	c.1849_1850delinsTG	p.V617C	Missense	14/25	-	1
9-5073771-T-A	c.1850T>A	p.V617D	Missense	14/25	-	2
9-5073771-T-C	c.1850T>C	p.V617A	Missense	14/25	-	4
9-5073771-TC-AG	c.1850_1851delinsAG	p.V617E	Missense	14/25	-	2
9-5073771-T-G	c.1850T>G	p.V617G	Missense	14/25	-	1
9-5073770-GTC-G	c.1851_1852del	p.C618Wfs*24	Frameshift	14/25	-	1
9-5073772-C-A	c.1851C>A	p.V617=	Synonymous	14/25	-	15
9-5073772-C-G	c.1851C>G	p.V617=	Synonymous	14/25	-	14
9-5073772-C-T	c.1851C>T	p.V617=	Synonymous	14/25	-	14
9-5073773-T-C	c.1852T>C	p.C618R	Missense	14/25	-	18
9-5073773-TG-CT	c.1852_1853delinsCT	p.C618L	Missense	14/25	-	1
9-5073773-TGT-GGTGTA	c.1852_1854delinsGGTGTA	p.C618delinsGV	MultiAAMissense	14/25	-	1
9-5073774-G-A	c.1853G>A	p.C618Y	Missense	14/25	-	3
9-5073774-G-T	c.1853G>T	p.C618F	Missense	14/25	-	3
9-5073776-G-A	c.1855G>A	p.G619R	Missense	14/25	-	1
9-5073776-G-C	c.1855G>C	p.G619R	Missense	14/25	-	1
9-5073776-G-T	c.1855G>T	p.G619*	Nonsense	14/25	-	2
9-5073777-G-A	c.1856G>A	p.G619E	Missense	14/25	-	1
9-5073777-G-C	c.1856G>C	p.G619A	Missense	14/25	-	1
9-5073780-A-G	c.1859A>G	p.D620G	Missense	14/25	-	1
9-5073781-AC-A	c.1860del	p.D620Efs*10	Frameshift	14/25	-	1
9-5073781-C-A	c.1860C>A	p.D620E	Missense	14/25	-	19
9-5073781-C-G	c.1860C>G	p.D620E	Missense	14/25	-	9
9-5073782-G-A	c.1861G>A	p.E621K	Missense	14/25	-	9
9-5073782-G-T	c.1861G>T	p.E621*	Nonsense	14/25	-	2
9-5073784-G-C	c.1863G>C	p.E621D	Missense	14/25	-	2
9-5073784-G-T	c.1863G>T	p.E621D	Missense	14/25	-	3
9-5073790-G-A	c.1864+5G>A	-	IntronicSNV	-	14/24	1
9-5073792-A-G	c.1864+7A>G	-	IntronicSNV	-	14/24	1
9-5073798-A-G	c.1864+13A>G	-	IntronicSNV	-	14/24	1
9-5073982-T-A	c.1864+197T>A	-	IntronicSNV	-	14/24	1
9-5074189-T-C	c.1864+404T>C	-	IntronicSNV	-	14/24	40
9-5074225-T-G	c.1864+440T>G	-	IntronicSNV	-	14/24	1
9-5074326-T-A	c.1864+541T>A	-	IntronicSNV	-	14/24	1
9-5075025-C-A	c.1864+1240C>A	-	IntronicSNV	-	14/24	1
9-5075115-G-A	c.1864+1330G>A	-	IntronicSNV	-	14/24	1
9-5075255-C-G	c.1864+1470C>G	-	IntronicSNV	-	14/24	1
9-5075255-C-T	c.1864+1470C>T	-	IntronicSNV	-	14/24	1
9-5075370-C-G	c.1864+1585C>G	-	IntronicSNV	-	14/24	1
9-5075603-C-T	c.1864+1818C>T	-	IntronicSNV	-	14/24	2
9-5075628-C-G	c.1865-1825C>G	-	IntronicSNV	-	14/24	3
9-5076399-T-C	c.1865-1054T>C	-	IntronicSNV	-	14/24	2
9-5076399-T-G	c.1865-1054T>G	-	IntronicSNV	-	14/24	2
9-5076613-G-C	c.1865-840G>C	-	IntronicSNV	-	14/24	5
9-5076690-C-A	c.1865-763C>A	-	IntronicSNV	-	14/24	1
9-5076690-C-T	c.1865-763C>T	-	IntronicSNV	-	14/24	1
9-5076691-C-A	c.1865-762C>A	-	IntronicSNV	-	14/24	19
9-5076691-C-G	c.1865-762C>G	-	IntronicSNV	-	14/24	19
9-5076946-A-T	c.1865-507A>T	-	IntronicSNV	-	14/24	2
9-5076970-C-T	c.1865-483C>T	-	IntronicSNV	-	14/24	1
9-5077174-G-GT	c.1865-278dup	-	IntronicInsertion	-	14/24	1
9-5077354-T-A	c.1865-99T>A	-	IntronicSNV	-	14/24	1
9-5077453-A-C	c.1865A>C	p.N622T	Missense	15/25	-	1
9-5077453-A-T	c.1865A>T	p.N622I	Missense	15/25	-	6
9-5077454-T-C	c.1866T>C	p.N622=	Synonymous	15/25	-	1
9-5077456-T-C	c.1868T>C	p.I623T	Missense	15/25	-	1
9-5077459-T-A	c.1871T>A	p.L624Q	Missense	15/25	-	1
9-5077459-T-C	c.1871T>C	p.L624P	Missense	15/25	-	5
9-5077461-GGT-G	c.1873_1874del	p.V625Sfs*17	Frameshift	15/25	-	1
9-5077461-G-T	c.1873G>T	p.V625F	Missense	15/25	-	15
9-5077466-G-A	c.1878G>A	p.Q626=	Synonymous	15/25	-	1
9-5077467-G-A	c.1879G>A	p.E627K	Missense	15/25	-	3
9-5077468-A-C	c.1880A>C	p.E627A	Missense	15/25	-	3
9-5077468-A-G	c.1880A>G	p.E627G	Missense	15/25	-	1
9-5077468-GA-G	c.1880del	p.E627Gfs*3	Frameshift	15/25	-	1
9-5077469-G-A	c.1881G>A	p.E627=	Synonymous	15/25	-	5
9-5077469-G-C	c.1881G>C	p.E627D	Missense	15/25	-	1
9-5077469-G-T	c.1881G>T	p.E627D	Missense	15/25	-	2
9-5077470-T-C	c.1882T>C	p.F628L	Missense	15/25	-	1
9-5077472-T-A	c.1884T>A	p.F628L	Missense	15/25	-	1
9-5077472-T-G	c.1884T>G	p.F628L	Missense	15/25	-	1
9-5077476-AA-GC	c.1888_1889delinsGC	p.K630A	Missense	15/25	-	1
9-5077476-AA-GG	c.1888_1889delinsGG	p.K630G	Missense	15/25	-	1
9-5077476-A-C	c.1888A>C	p.K630Q	Missense	15/25	-	1
9-5077479-T-C	c.1891T>C	p.F631L	Missense	15/25	-	1
9-5077479-TT-GG	c.1891_1892delinsGG	p.F631G	Missense	15/25	-	1
9-5077481-T-A	c.1893T>A	p.F631L	Missense	15/25	-	1
9-5077481-T-G	c.1893T>G	p.F631L	Missense	15/25	-	1
9-5077482-G-A	c.1894G>A	p.G632R	Missense	15/25	-	2
9-5077483-G-A	c.1895G>A	p.G632E	Missense	15/25	-	1
9-5077484-A-C	c.1896A>C	p.G632=	Synonymous	15/25	-	1
9-5077485-T-A	c.1897T>A	p.S633T	Missense	15/25	-	1
9-5077485-T-G	c.1897T>G	p.S633A	Missense	15/25	-	2
9-5077486-C-T	c.1898C>T	p.S633L	Missense	15/25	-	1
9-5077486-CACTAGATACATATCTGAAAAAGA-C	c.1900_1922del	p.L634*	Frameshift	15/25	-	1
9-5077488-C-T	c.1900C>T	p.L634=	Synonymous	15/25	-	1
9-5077489-T-C	c.1901T>C	p.L634P	Missense	15/25	-	3
9-5077490-A-G	c.1902A>G	p.L634=	Synonymous	15/25	-	1
9-5077491-G-A	c.1903G>A	p.D635N	Missense	15/25	-	1
9-5077491-G-T	c.1903G>T	p.D635Y	Missense	15/25	-	1
9-5077496-A-G	c.1908A>G	p.T636=	Synonymous	15/25	-	1
9-5077497-TAT-GAG	c.1909_1911delinsGAG	p.Y637E	Missense	15/25	-	1
9-5077498-A-T	c.1910A>T	p.Y637F	Missense	15/25	-	1
9-5077499-T-C	c.1911T>C	p.Y637=	Synonymous	15/25	-	1
9-5077500-C-A	c.1912C>A	p.L638M	Missense	15/25	-	1
9-5077500-C-T	c.1912C>T	p.L638=	Synonymous	15/25	-	2
9-5077501-T-C	c.1913T>C	p.L638P	Missense	15/25	-	1
9-5077505-A-G	c.1917A>G	p.K639=	Synonymous	15/25	-	1
9-5077502-GA-G	c.1919del	p.K640Rfs*6	Frameshift	15/25	-	1
9-5077508-G-A	c.1920G>A	p.K640=	Synonymous	15/25	-	1
9-5077508-G-C	c.1920G>C	p.K640N	Missense	15/25	-	4
9-5077508-G-T	c.1920G>T	p.K640N	Missense	15/25	-	3
9-5077509-A-C	c.1921A>C	p.N641H	Missense	15/25	-	1
9-5077511-AT-A	c.1923del	p.N641Kfs*5	Frameshift	15/25	-	1
9-5077511-T-C	c.1923T>C	p.N641=	Synonymous	15/25	-	1
9-5077512-A-C	c.1924A>C	p.K642Q	Missense	15/25	-	1
9-5077512-A-G	c.1924A>G	p.K642E	Missense	15/25	-	1
9-5077513-A-C	c.1925A>C	p.K642T	Missense	15/25	-	1
9-5077514-A-C	c.1926A>C	p.K642N	Missense	15/25	-	1
9-5077514-A-G	c.1926A>G	p.K642=	Synonymous	15/25	-	1
9-5077514-A-T	c.1926A>T	p.K642N	Missense	15/25	-	1
9-5077515-A-C	c.1927A>C	p.N643H	Missense	15/25	-	1
9-5077511-T-TA	c.1928dup	p.N643Kfs*10	Frameshift	15/25	-	1
9-5077517-T-C	c.1929T>C	p.N643=	Synonymous	15/25	-	4
9-5077518-T-A	c.1930T>A	p.C644S	Missense	15/25	-	1
9-5077521-A-G	c.1933A>G	p.I645V	Missense	15/25	-	4
9-5077520-TATAAATATATTATGGAAACTTGAAGTTGCTAAACAGTTGGCATGGGCC-T	c.1935_1982del	p.I645_A660del	InFrameDeletion	15/25	-	1
9-5077523-A-AT	c.1935_1936insT	p.N646*	Nonsense	15/25	-	2
9-5077524-A-C	c.1936A>C	p.N646H	Missense	15/25	-	2
9-5077524-A-G	c.1936A>G	p.N646D	Missense	15/25	-	1
9-5077522-TA-T	c.1937del	p.N646Ifs*19	Frameshift	15/25	-	2
9-5077525-A-G	c.1937A>G	p.N646S	Missense	15/25	-	1
9-5077525-A-T	c.1937A>T	p.N646I	Missense	15/25	-	1
9-5077528-T-C	c.1940T>C	p.I647T	Missense	15/25	-	1
9-5077524-AAT-A	c.1941_1942del	p.L648Mfs*4	Frameshift	15/25	-	1
9-5077529-A-G	c.1941A>G	p.I647M	Missense	15/25	-	2
9-5077530-TT-CC	c.1942_1943delinsCC	p.L648P	Missense	15/25	-	1
9-5077531-T-C	c.1943T>C	p.L648S	Missense	15/25	-	1
9-5077535-G-A	c.1947G>A	p.W649*	Nonsense	15/25	-	4
9-5077536-A-C	c.1948A>C	p.K650Q	Missense	15/25	-	2
9-5077536-A-G	c.1948A>G	p.K650E	Missense	15/25	-	4
9-5077536-A-T	c.1948A>T	p.K650*	Nonsense	15/25	-	3
9-5077537-AA-TG	c.1949_1950delinsTG	p.K650M	Missense	15/25	-	2
9-5077537-A-C	c.1949A>C	p.K650T	Missense	15/25	-	2
9-5077539-C-T	c.1951C>T	p.L651F	Missense	15/25	-	2
9-5077540-CTTG-C	c.1952_1954del	p.L651_E652delinsQ	MultiAAMissense	15/25	-	1
9-5077540-T-G	c.1952T>G	p.L651R	Missense	15/25	-	1
9-5077543-A-G	c.1955A>G	p.E652G	Missense	15/25	-	1
9-5077544-A-G	c.1956A>G	p.E652=	Synonymous	15/25	-	1
9-5077545-G-A	c.1957G>A	p.V653I	Missense	15/25	-	1
9-5077546-T-G	c.1958T>G	p.V653G	Missense	15/25	-	1
9-5077547-T-G	c.1959T>G	p.V653=	Synonymous	15/25	-	1
9-5077551-A-T	c.1963A>T	p.K655*	Nonsense	15/25	-	1
9-5077552-AA-TG	c.1964_1965delinsTG	p.K655M	Missense	15/25	-	1
9-5077554-C-A	c.1966C>A	p.Q656K	Missense	15/25	-	1
9-5077554-C-T	c.1966C>T	p.Q656*	Nonsense	15/25	-	1
9-5077557-T-C	c.1969T>C	p.L657=	Synonymous	15/25	-	1
9-5077559-G-A	c.1971G>A	p.L657=	Synonymous	15/25	-	1
9-5077558-T-C	c.1970T>C	p.L657S	Missense	15/25	-	1
9-5077560-G-A	c.1972G>A	p.A658T	Missense	15/25	-	2
9-5077560-G-T	c.1972G>T	p.A658S	Missense	15/25	-	2
9-5077563-T-C	c.1975T>C	p.W659R	Missense	15/25	-	3
9-5077563-TG-GC	c.1975_1976delinsGC	p.W659A	Missense	15/25	-	5
9-5077564-G-A	c.1976G>A	p.W659*	Nonsense	15/25	-	1
9-5077564-G-C	c.1976G>C	p.W659S	Missense	15/25	-	1
9-5077564-G-T	c.1976G>T	p.W659L	Missense	15/25	-	1
9-5077565-G-A	c.1977G>A	p.W659*	Nonsense	15/25	-	1
9-5077565-G-T	c.1977G>T	p.W659C	Missense	15/25	-	1
9-5077566-G-A	c.1978G>A	p.A660T	Missense	15/25	-	1
9-5077567-C-G	c.1979C>G	p.A660G	Missense	15/25	-	1
9-5077567-C-T	c.1979C>T	p.A660V	Missense	15/25	-	1
9-5077569-A-C	c.1981A>C	p.M661L	Missense	15/25	-	1
9-5077569-A-G	c.1981A>G	p.M661V	Missense	15/25	-	1
9-5077569-A-T	c.1981A>T	p.M661L	Missense	15/25	-	1
9-5077571-G-C	c.1983G>C	p.M661I	Missense	15/25	-	1
9-5077574-T-A	c.1986T>A	p.H662Q	Missense	15/25	-	2
9-5077574-T-G	c.1986T>G	p.H662Q	Missense	15/25	-	2
9-5077579-T-C	c.1991T>C	p.L664P	Missense	15/25	-	1
9-5077584-A-G	c.1992+4A>G	-	IntronicSNV	-	15/24	1
9-5077603-C-G	c.1992+23C>G	-	IntronicSNV	-	15/24	1
9-5077615-T-C	c.1992+35T>C	-	IntronicSNV	-	15/24	1
9-5077653-G-A	c.1992+73G>A	-	IntronicSNV	-	15/24	1
9-5077658-C-A	c.1992+78C>A	-	IntronicSNV	-	15/24	1
9-5077670-C-A	c.1992+90C>A	-	IntronicSNV	-	15/24	1
9-5078046-G-C	c.1993-260G>C	-	IntronicSNV	-	15/24	2
9-5078117-T-C	c.1993-189T>C	-	IntronicSNV	-	15/24	16
9-5078201-A-G	c.1993-105A>G	-	IntronicSNV	-	15/24	1
9-5078201-A-T	c.1993-105A>T	-	IntronicSNV	-	15/24	1
9-5078284-T-C	c.1993-22T>C	-	IntronicSNV	-	15/24	1
9-5078306-G-A	c.1993G>A	p.E665K	Missense	16/25	-	2
9-5078306-G-T	c.1993G>T	p.E665*	Nonsense	16/25	-	4
9-5078309-G-A	c.1996G>A	p.E666K	Missense	16/25	-	1
9-5078309-GA-AG	c.1996_1997delinsAG	p.E666R	Missense	16/25	-	1
9-5078309-G-T	c.1996G>T	p.E666*	Nonsense	16/25	-	1
9-5078310-A-C	c.1997A>C	p.E666A	Missense	16/25	-	1
9-5078310-A-G	c.1997A>G	p.E666G	Missense	16/25	-	1
9-5078311-A-C	c.1998A>C	p.E666D	Missense	16/25	-	1
9-5078313-A-G	c.2000A>G	p.N667S	Missense	16/25	-	1
9-5078314-C-A	c.2001C>A	p.N667K	Missense	16/25	-	1
9-5078314-C-G	c.2001C>G	p.N667K	Missense	16/25	-	2
9-5078315-A-C	c.2002A>C	p.T668P	Missense	16/25	-	1
9-5078316-C-A	c.2003C>A	p.T668N	Missense	16/25	-	1
9-5078316-C-T	c.2003C>T	p.T668I	Missense	16/25	-	1
9-5078317-C-T	c.2004C>T	p.T668=	Synonymous	16/25	-	2
9-5078318-C-T	c.2005C>T	p.L669F	Missense	16/25	-	2
9-5078321-A-G	c.2008A>G	p.I670V	Missense	16/25	-	2
9-5078324-C-T	c.2011C>T	p.H671Y	Missense	16/25	-	1
9-5078325-A-G	c.2012A>G	p.H671R	Missense	16/25	-	1
9-5078327-GGG-A	c.2014_2016delinsA	p.G672Kfs*26	Frameshift	16/25	-	1
9-5078328-G-A	c.2015G>A	p.G672E	Missense	16/25	-	1
9-5078329-G-A	c.2016G>A	p.G672=	Synonymous	16/25	-	1
9-5078329-G-C	c.2016G>C	p.G672=	Synonymous	16/25	-	1
9-5078329-G-T	c.2016G>T	p.G672=	Synonymous	16/25	-	1
9-5078330-A-G	c.2017A>G	p.N673D	Missense	16/25	-	1
9-5078331-A-T	c.2018A>T	p.N673I	Missense	16/25	-	1
9-5078333-GTA-ATG	c.2020_2022delinsATG	p.V674M	Missense	16/25	-	2
9-5078334-T-A	c.2021T>A	p.V674E	Missense	16/25	-	1
9-5078334-T-C	c.2021T>C	p.V674A	Missense	16/25	-	1
9-5078338-T-A	c.2025T>A	p.C675*	Nonsense	16/25	-	1
9-5078338-T-C	c.2025T>C	p.C675=	Synonymous	16/25	-	1
9-5078338-T-G	c.2025T>G	p.C675W	Missense	16/25	-	2
9-5078340-C-A	c.2027C>A	p.A676D	Missense	16/25	-	1
9-5078340-C-T	c.2027C>T	p.A676V	Missense	16/25	-	2
9-5078342-A-G	c.2029A>G	p.K677E	Missense	16/25	-	2
9-5078344-A-AT	c.2031_2032insT	p.N678*	Nonsense	16/25	-	1
9-5078344-A-C	c.2031A>C	p.K677N	Missense	16/25	-	1
9-5078344-A-T	c.2031A>T	p.K677N	Missense	16/25	-	1
9-5078345-AA-GC	c.2032_2033delinsGC	p.N678A	Missense	16/25	-	2
9-5078348-A-G	c.2035A>G	p.I679V	Missense	16/25	-	2
9-5078351-C-A	c.2038C>A	p.L680M	Missense	16/25	-	1
9-5078351-CT-GC	c.2038_2039delinsGC	p.L680A	Missense	16/25	-	1
9-5078351-TCTGCTTATCAGAGAA-T	c.2038_2052del	p.L680_E684del	InFrameDeletion	16/25	-	1
9-5078352-T-C	c.2039T>C	p.L680P	Missense	16/25	-	1
9-5078353-G-A	c.2040G>A	p.L680=	Synonymous	16/25	-	1
9-5078354-C-A	c.2041C>A	p.L681I	Missense	16/25	-	1
9-5078354-C-T	c.2041C>T	p.L681F	Missense	16/25	-	2
9-5078355-T-TTGG	c.2043_2044insGGT	p.L681_I682insG	InFrameInsertion	16/25	-	1
9-5078356-T-A	c.2043T>A	p.L681=	Synonymous	16/25	-	2
9-5078356-T-C	c.2043T>C	p.L681=	Synonymous	16/25	-	2
9-5078356-T-G	c.2043T>G	p.L681=	Synonymous	16/25	-	2
9-5078357-A-AGGACCTCCTCCCTCC	c.2044_2045insGGACCTCCTCCCTCC	p.I682delinsRTSSLL	MultiAAMissense	16/25	-	1
9-5078357-A-T	c.2044A>T	p.I682F	Missense	16/25	-	33
9-5078358-TC-CACCTTATGAGGGTATGCCTGGTCAT	c.2045_2046delinsCACCTTATGAGGGTATGCCTGGTCAT	p.I682delinsTPYEGMPGH	MultiAAMissense	16/25	-	1
9-5078356-TATCAGAGAAGAAGAC-T	c.2045_2059del	p.I682_D686del	InFrameDeletion	16/25	-	1
9-5078356-TATC-T	c.2045_2047del	p.I682del	InFrameDeletion	16/25	-	2
9-5078358-T-C	c.2045T>C	p.I682T	Missense	16/25	-	3
9-5078358-TC-AG	c.2045_2046delinsAG	p.I682K	Missense	16/25	-	2
9-5078359-C-CGGTCCT	c.2046_2047insGGTCCT	p.I682_R683insGP	InFrameInsertion	16/25	-	1
9-5078359-C-T	c.2046C>T	p.I682=	Synonymous	16/25	-	1
9-5078360-A-G	c.2047A>G	p.R683G	Missense	16/25	-	147
9-5078360-AGA-TTT	c.2047_2049delinsTTT	p.R683F	Missense	16/25	-	1
9-5078361-AGAG-A	c.2048_2050del	p.R683_E684delinsK	MultiAAMissense	16/25	-	1
9-5078361-G-A	c.2048G>A	p.R683K	Missense	16/25	-	11
9-5078361-G-C	c.2048G>C	p.R683T	Missense	16/25	-	22
9-5078361-G-T	c.2048G>T	p.R683I	Missense	16/25	-	3
9-5078362-A-C	c.2049A>C	p.R683S	Missense	16/25	-	37
9-5078362-A-T	c.2049A>T	p.R683S	Missense	16/25	-	62
9-5078363-GAA-TAT	c.2050_2052delinsTAT	p.E684Y	Missense	16/25	-	1
9-5078363-G-C	c.2050G>C	p.E684Q	Missense	16/25	-	1
9-5078364-A-T	c.2051A>T	p.E684V	Missense	16/25	-	3
9-5078366-G-A	c.2053G>A	p.E685K	Missense	16/25	-	3
9-5078366-G-T	c.2053G>T	p.E685*	Nonsense	16/25	-	1
9-5078361-GAGA-G	c.2055_2057del	p.E685del	InFrameDeletion	16/25	-	1
9-5078369-AGAC-A	c.2056_2058del	p.D686del	InFrameDeletion	16/25	-	2
9-5078369-G-A	c.2056G>A	p.D686N	Missense	16/25	-	1
9-5078372-AG-CA	c.2059_2060delinsCA	p.R687Q	Missense	16/25	-	6
9-5078372-AG-TA	c.2059_2060delinsTA	p.R687*	Nonsense	16/25	-	1
9-5078374-G-A	c.2061G>A	p.R687=	Synonymous	16/25	-	1
9-5078375-A-G	c.2062A>G	p.K688E	Missense	16/25	-	1
9-5078376-A-G	c.2063A>G	p.K688R	Missense	16/25	-	1
9-5078379-C-T	c.2066C>T	p.T689I	Missense	16/25	-	1
9-5078380-A-G	c.2067A>G	p.T689=	Synonymous	16/25	-	1
9-5078382-G-A	c.2069G>A	p.G690E	Missense	16/25	-	1
9-5078382-G-T	c.2069G>T	p.G690V	Missense	16/25	-	1
9-5078384-A-C	c.2071A>C	p.N691H	Missense	16/25	-	4
9-5078385-A-G	c.2072A>G	p.N691S	Missense	16/25	-	2
9-5078386-T-A	c.2073T>A	p.N691K	Missense	16/25	-	1
9-5078386-T-C	c.2073T>C	p.N691=	Synonymous	16/25	-	1
9-5078387-C-G	c.2074C>G	p.P692A	Missense	16/25	-	1
9-5078387-C-T	c.2074C>T	p.P692S	Missense	16/25	-	2
9-5078390-C-A	c.2077C>A	p.P693T	Missense	16/25	-	1
9-5078390-C-G	c.2077C>G	p.P693A	Missense	16/25	-	1
9-5078390-C-T	c.2077C>T	p.P693S	Missense	16/25	-	2
9-5078393-T-C	c.2080T>C	p.F694L	Missense	16/25	-	23
9-5078395-C-A	c.2082C>A	p.F694L	Missense	16/25	-	21
9-5078395-C-G	c.2082C>G	p.F694L	Missense	16/25	-	22
9-5078394-T-C	c.2081T>C	p.F694S	Missense	16/25	-	6
9-5078394-T-G	c.2081T>G	p.F694C	Missense	16/25	-	1
9-5078396-A-G	c.2083A>G	p.I695V	Missense	16/25	-	4
9-5078399-A-C	c.2086A>C	p.K696Q	Missense	16/25	-	1
9-5078400-A-G	c.2087A>G	p.K696R	Missense	16/25	-	1
9-5078401-A-G	c.2088A>G	p.K696=	Synonymous	16/25	-	1
9-5078402-C-T	c.2089C>T	p.L697F	Missense	16/25	-	1
9-5078403-T-A	c.2090T>A	p.L697H	Missense	16/25	-	1
9-5078403-T-G	c.2090T>G	p.L697R	Missense	16/25	-	3
9-5078405-AG-GC	c.2092_2093delinsGC	p.S698A	Missense	16/25	-	1
9-5078405-AG-TT	c.2092_2093delinsTT	p.S698F	Missense	16/25	-	1
9-5078405-A-T	c.2092A>T	p.S698C	Missense	16/25	-	1
9-5078406-G-A	c.2093G>A	p.S698N	Missense	16/25	-	1
9-5078408-G-A	c.2095G>A	p.D699N	Missense	16/25	-	1
9-5078408-GAT-AACAAC	c.2095_2097delinsAACAAC	p.D699delinsNN	MultiAAMissense	16/25	-	1
9-5078408-G-T	c.2095G>T	p.D699Y	Missense	16/25	-	3
9-5078409-A-C	c.2096A>C	p.D699A	Missense	16/25	-	1
9-5078411-C-A	c.2098C>A	p.P700T	Missense	16/25	-	1
9-5078412-C-T	c.2099C>T	p.P700L	Missense	16/25	-	1
9-5078414-G-T	c.2101G>T	p.G701C	Missense	16/25	-	1
9-5078417-A-G	c.2104A>G	p.I702V	Missense	16/25	-	2
9-5078419-T-G	c.2106T>G	p.I702M	Missense	16/25	-	1
9-5078423-A-C	c.2110A>C	p.I704L	Missense	16/25	-	2
9-5078426-A-G	c.2113A>G	p.T705A	Missense	16/25	-	1
9-5078427-C-A	c.2114C>A	p.T705K	Missense	16/25	-	1
9-5078427-C-T	c.2114C>T	p.T705I	Missense	16/25	-	1
9-5078429-G-A	c.2116G>A	p.V706I	Missense	16/25	-	1
9-5078430-T-C	c.2117T>C	p.V706A	Missense	16/25	-	1
9-5078432-TT-GC	c.2119_2120delinsGC	p.L707A	Missense	16/25	-	1
9-5078435-C-T	c.2122C>T	p.P708S	Missense	16/25	-	2
9-5078436-C-T	c.2123C>T	p.P708L	Missense	16/25	-	1
9-5078438-A-C	c.2125A>C	p.K709Q	Missense	16/25	-	1
9-5078440-G-A	c.2127G>A	p.K709=	Synonymous	16/25	-	1
9-5078441-G-A	c.2128G>A	p.D710N	Missense	16/25	-	2
9-5078441-G-C	c.2128G>C	p.D710H	Missense	16/25	-	1
9-5078444-A-G	c.2131A>G	p.I711V	Missense	16/25	-	1
9-5078450-T-G	c.2131+6T>G	-	IntronicSNV	-	16/24	1
9-5078700-T-C	c.2131+256T>C	-	IntronicSNV	-	16/24	1
9-5078737-T-G	c.2131+293T>G	-	IntronicSNV	-	16/24	1
9-5079324-A-C	c.2131+880A>C	-	IntronicSNV	-	16/24	1
9-5079773-C-T	c.2132-456C>T	-	IntronicSNV	-	16/24	1
9-5079785-C-G	c.2132-444C>G	-	IntronicSNV	-	16/24	1
9-5079785-C-T	c.2132-444C>T	-	IntronicSNV	-	16/24	1
9-5079828-A-T	c.2132-401A>T	-	IntronicSNV	-	16/24	2
9-5080214-C-T	c.2132-15C>T	-	IntronicSNV	-	16/24	1
9-5080229-T-C	c.2132T>C	p.I711T	Missense	17/25	-	1
9-5080229-T-G	c.2132T>G	p.I711S	Missense	17/25	-	1
9-5080222-T-TTAAAAGTTTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATC	c.2133_2134insTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAAAGTT	p.I711_L712insFLFKQKTAYEIPQCDWSSDVCSSDLKV	SpliceAcceptorInsertion	17/25	-	1
9-5080231-C-A	c.2134C>A	p.L712I	Missense	17/25	-	1
9-5080231-C-G	c.2134C>G	p.L712V	Missense	17/25	-	2
9-5080231-C-T	c.2134C>T	p.L712F	Missense	17/25	-	1
9-5080232-T-C	c.2135T>C	p.L712P	Missense	17/25	-	1
9-5080234-C-T	c.2137C>T	p.Q713*	Nonsense	17/25	-	4
9-5080236-G-C	c.2139G>C	p.Q713H	Missense	17/25	-	1
9-5080239-G-T	c.2142G>T	p.E714D	Missense	17/25	-	1
9-5080240-A-G	c.2143A>G	p.R715G	Missense	17/25	-	1
9-5080240-AG-GC	c.2143_2144delinsGC	p.R715A	Missense	17/25	-	1
9-5080240-A-T	c.2143A>T	p.R715*	Nonsense	17/25	-	1
9-5080241-G-C	c.2144G>C	p.R715T	Missense	17/25	-	5
9-5080242-A-G	c.2145A>G	p.R715=	Synonymous	17/25	-	1
9-5080247-C-G	c.2150C>G	p.P717R	Missense	17/25	-	1
9-5080251-G-T	c.2154G>T	p.W718C	Missense	17/25	-	2
9-5080252-GTA-ATG	c.2155_2157delinsATG	p.V719M	Missense	17/25	-	1
9-5080255-C-G	c.2158C>G	p.P720A	Missense	17/25	-	2
9-5080255-C-T	c.2158C>T	p.P720S	Missense	17/25	-	1
9-5080256-C-A	c.2159C>A	p.P720Q	Missense	17/25	-	2
9-5080256-C-T	c.2159C>T	p.P720L	Missense	17/25	-	1
9-5080257-A-T	c.2160A>T	p.P720=	Synonymous	17/25	-	1
9-5080260-T-A	c.2163T>A	p.P721=	Synonymous	17/25	-	2
9-5080260-T-C	c.2163T>C	p.P721=	Synonymous	17/25	-	3
9-5080260-T-G	c.2163T>G	p.P721=	Synonymous	17/25	-	2
9-5080261-G-A	c.2164G>A	p.E722K	Missense	17/25	-	3
9-5080264-T-A	c.2167T>A	p.C723S	Missense	17/25	-	3
9-5080264-T-G	c.2167T>G	p.C723G	Missense	17/25	-	1
9-5080264-TGC-AAGTAT	c.2167_2169delinsAAGTAT	p.C723delinsKY	MultiAAMissense	17/25	-	1
9-5080265-G-C	c.2168G>C	p.C723S	Missense	17/25	-	2
9-5080265-G-A	c.2168G>A	p.C723Y	Missense	17/25	-	2
9-5080267-A-G	c.2170A>G	p.I724V	Missense	17/25	-	1
9-5080268-T-C	c.2171T>C	p.I724T	Missense	17/25	-	9
9-5080270-G-A	c.2173G>A	p.E725K	Missense	17/25	-	3
9-5080270-G-C	c.2173G>C	p.E725Q	Missense	17/25	-	1
9-5080270-G-T	c.2173G>T	p.E725*	Nonsense	17/25	-	4
9-5080277-C-T	c.2180C>T	p.P727L	Missense	17/25	-	3
9-5080282-A-C	c.2185A>C	p.N729H	Missense	17/25	-	3
9-5080283-A-T	c.2186A>T	p.N729I	Missense	17/25	-	1
9-5080284-T-C	c.2187T>C	p.N729=	Synonymous	17/25	-	1
9-5080285-T-A	c.2188T>A	p.L730I	Missense	17/25	-	1
9-5080286-T-G	c.2189T>G	p.L730*	Nonsense	17/25	-	1
9-5080287-A-C	c.2190A>C	p.L730F	Missense	17/25	-	1
9-5080287-A-T	c.2190A>T	p.L730F	Missense	17/25	-	1
9-5080288-A-C	c.2191A>C	p.N731H	Missense	17/25	-	1
9-5080288-A-T	c.2191A>T	p.N731Y	Missense	17/25	-	1
9-5080293-G-A	c.2196G>A	p.L732=	Synonymous	17/25	-	1
9-5080293-G-C	c.2196G>C	p.L732F	Missense	17/25	-	4
9-5080294-G-C	c.2197G>C	p.A733P	Missense	17/25	-	1
9-5080295-C-A	c.2198C>A	p.A733E	Missense	17/25	-	1
9-5080297-A-G	c.2200A>G	p.T734A	Missense	17/25	-	1
9-5080298-C-G	c.2201C>G	p.T734R	Missense	17/25	-	1
9-5080301-A-G	c.2204A>G	p.D735G	Missense	17/25	-	2
9-5080307-G-T	c.2210G>T	p.W737L	Missense	17/25	-	1
9-5080308-G-C	c.2211G>C	p.W737C	Missense	17/25	-	1
9-5080308-G-T	c.2211G>T	p.W737C	Missense	17/25	-	2
9-5080309-AG-TA	c.2212_2213delinsTA	p.S738Y	Missense	17/25	-	1
9-5080310-G-T	c.2213G>T	p.S738I	Missense	17/25	-	1
9-5080312-T-A	c.2215T>A	p.F739I	Missense	17/25	-	1
9-5080312-T-C	c.2215T>C	p.F739L	Missense	17/25	-	1
9-5080312-TT-CG	c.2215_2216delinsCG	p.F739R	Missense	17/25	-	5
9-5080314-T-A	c.2217T>A	p.F739L	Missense	17/25	-	1
9-5080314-T-G	c.2217T>G	p.F739L	Missense	17/25	-	1
9-5080315-G-T	c.2218G>T	p.G740C	Missense	17/25	-	1
9-5080316-G-T	c.2219G>T	p.G740V	Missense	17/25	-	3
9-5080316-GT-AG	c.2219_2220delinsAG	p.G740E	Missense	17/25	-	1
9-5080317-T-A	c.2220T>A	p.G740=	Synonymous	17/25	-	1
9-5080317-T-C	c.2220T>C	p.G740=	Synonymous	17/25	-	1
9-5080317-T-G	c.2220T>G	p.G740=	Synonymous	17/25	-	1
9-5080319-C-T	c.2222C>T	p.T741I	Missense	17/25	-	1
9-5080318-A-AC	c.2223dup	p.T742Hfs*11	Frameshift	17/25	-	3
9-5080321-A-G	c.2224A>G	p.T742A	Missense	17/25	-	1
9-5080322-C-T	c.2225C>T	p.T742I	Missense	17/25	-	1
9-5080324-T-G	c.2227T>G	p.L743V	Missense	17/25	-	2
9-5080326-G-C	c.2229G>C	p.L743F	Missense	17/25	-	1
9-5080326-G-T	c.2229G>T	p.L743F	Missense	17/25	-	1
9-5080328-G-T	c.2231G>T	p.W744L	Missense	17/25	-	1
9-5080330-G-A	c.2233G>A	p.E745K	Missense	17/25	-	1
9-5080330-G-T	c.2233G>T	p.E745*	Nonsense	17/25	-	1
9-5080331-A-G	c.2234A>G	p.E745G	Missense	17/25	-	2
9-5080332-A-C	c.2235A>C	p.E745D	Missense	17/25	-	1
9-5080332-A-T	c.2235A>T	p.E745D	Missense	17/25	-	1
9-5080334-T-C	c.2237T>C	p.I746T	Missense	17/25	-	1
9-5080335-C-A	c.2238C>A	p.I746=	Synonymous	17/25	-	1
9-5080335-C-G	c.2238C>G	p.I746M	Missense	17/25	-	2
9-5080335-C-T	c.2238C>T	p.I746=	Synonymous	17/25	-	1
9-5080337-G-A	c.2240G>A	p.C747Y	Missense	17/25	-	1
9-5080337-G-T	c.2240G>T	p.C747F	Missense	17/25	-	1
9-5080343-G-A	c.2246G>A	p.G749E	Missense	17/25	-	1
9-5080345-G-A	c.2248G>A	p.G750R	Missense	17/25	-	1
9-5080345-G-C	c.2248G>C	p.G750R	Missense	17/25	-	1
9-5080346-G-A	c.2249G>A	p.G750E	Missense	17/25	-	1
9-5080348-G-A	c.2251G>A	p.D751N	Missense	17/25	-	1
9-5080348-G-T	c.2251G>T	p.D751Y	Missense	17/25	-	1
9-5080349-A-G	c.2252A>G	p.D751G	Missense	17/25	-	1
9-5080352-A-C	c.2255A>C	p.K752T	Missense	17/25	-	1
9-5080354-C-T	c.2257C>T	p.P753S	Missense	17/25	-	1
9-5080357-C-G	c.2260C>G	p.L754V	Missense	17/25	-	2
9-5080357-C-T	c.2260C>T	p.L754=	Synonymous	17/25	-	1
9-5080358-T-C	c.2261T>C	p.L754P	Missense	17/25	-	2
9-5080360-AG-CT	c.2263_2264inv	p.S755L	Missense	17/25	-	1
9-5080360-A-C	c.2263A>C	p.S755R	Missense	17/25	-	10
9-5080362-T-A	c.2265T>A	p.S755R	Missense	17/25	-	10
9-5080362-T-C	c.2265T>C	p.S755=	Synonymous	17/25	-	2
9-5080362-T-G	c.2265T>G	p.S755R	Missense	17/25	-	10
9-5080363-G-A	c.2266G>A	p.A756T	Missense	17/25	-	1
9-5080364-C-T	c.2267C>T	p.A756V	Missense	17/25	-	2
9-5080365-T-TGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAAA	c.2268_2269insGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAAA	p.L757Dfs*22	Frameshift	17/25	-	1
9-5080369-G-T	c.2272G>T	p.D758Y	Missense	17/25	-	1
9-5080373-C-A	c.2276C>A	p.S759Y	Missense	17/25	-	1
9-5080373-C-G	c.2276C>G	p.S759C	Missense	17/25	-	1
9-5080373-C-T	c.2276C>T	p.S759F	Missense	17/25	-	1
9-5080377-A-C	c.2280A>C	p.Q760H	Missense	17/25	-	1
9-5080377-A-T	c.2280A>T	p.Q760H	Missense	17/25	-	3
9-5080378-A-G	c.2281A>G	p.R761G	Missense	17/25	-	1
9-5080379-G-A	c.2282G>A	p.R761K	Missense	17/25	-	1
9-5080381-G-C	c.2283+1G>C	-	IntronicSNV	-	17/24	3
9-5080392-T-A	c.2283+12T>A	-	IntronicSNV	-	17/24	1
9-5080392-T-C	c.2283+12T>C	-	IntronicSNV	-	17/24	1
9-5080392-T-G	c.2283+12T>G	-	IntronicSNV	-	17/24	1
9-5080530-TAGA-T	c.2284_2286del	p.K762del	SpliceAcceptorDeletion	18/25	-	1
9-5080533-A-C	c.2284A>C	p.K762Q	Missense	18/25	-	1
9-5080533-A-G	c.2284A>G	p.K762E	Missense	18/25	-	2
9-5080534-A-G	c.2285A>G	p.K762R	Missense	18/25	-	4
9-5080535-G-A	c.2286G>A	p.K762=	Synonymous	18/25	-	2
9-5080539-C-G	c.2290C>G	p.Q764E	Missense	18/25	-	1
9-5080540-A-G	c.2291A>G	p.Q764R	Missense	18/25	-	1
9-5080541-A-C	c.2292A>C	p.Q764H	Missense	18/25	-	1
9-5080541-A-T	c.2292A>T	p.Q764H	Missense	18/25	-	1
9-5080543-T-A	c.2294T>A	p.F765Y	Missense	18/25	-	1
9-5080543-T-G	c.2294T>G	p.F765C	Missense	18/25	-	1
9-5080545-TAT-GAG	c.2296_2298delinsGAG	p.Y766E	Missense	18/25	-	1
9-5080548-G-A	c.2299G>A	p.E767K	Missense	18/25	-	1
9-5080549-A-G	c.2300A>G	p.E767G	Missense	18/25	-	1
9-5080550-A-G	c.2301A>G	p.E767=	Synonymous	18/25	-	1
9-5080551-G-C	c.2302G>C	p.D768H	Missense	18/25	-	3
9-5080554-AG-CA	c.2305_2306delinsCA	p.R769Q	Missense	18/25	-	1
9-5080554-A-T	c.2305A>T	p.R769W	Missense	18/25	-	1
9-5080555-G-A	c.2306G>A	p.R769K	Missense	18/25	-	2
9-5080558-A-G	c.2309A>G	p.H770R	Missense	18/25	-	1
9-5080558-A-T	c.2309A>T	p.H770L	Missense	18/25	-	4
9-5080558-CA-C	c.2309del	p.H770Lfs*11	Frameshift	18/25	-	1
9-5080560-C-T	c.2311C>T	p.Q771*	Nonsense	18/25	-	2
9-5080561-A-G	c.2312A>G	p.Q771R	Missense	18/25	-	1
9-5080563-C-T	c.2314C>T	p.L772F	Missense	18/25	-	1
9-5080566-CCT-TTTAGC	c.2317_2319delinsTTTAGC	p.P773delinsFS	MultiAAMissense	18/25	-	1
9-5080566-CC-TTTTT	c.2317_2318delinsTTTTT	p.P773delinsFF	MultiAAMissense	18/25	-	1
9-5080566-C-G	c.2317C>G	p.P773A	Missense	18/25	-	1
9-5080566-C-T	c.2317C>T	p.P773S	Missense	18/25	-	2
9-5080567-C-A	c.2318C>A	p.P773H	Missense	18/25	-	2
9-5080567-C-T	c.2318C>T	p.P773L	Missense	18/25	-	1
9-5080569-G-A	c.2320G>A	p.A774T	Missense	18/25	-	2
9-5080569-G-C	c.2320G>C	p.A774P	Missense	18/25	-	1
9-5080569-G-T	c.2320G>T	p.A774S	Missense	18/25	-	4
9-5080572-C-G	c.2323C>G	p.P775A	Missense	18/25	-	2
9-5080572-C-T	c.2323C>T	p.P775S	Missense	18/25	-	1
9-5080573-C-CAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAA	c.2325_2326insGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAAA	p.K776Dfs*22	Frameshift	18/25	-	1
9-5080578-TG-GC	c.2329_2330delinsGC	p.W777A	Missense	18/25	-	5
9-5080579-G-A	c.2330G>A	p.W777*	Nonsense	18/25	-	3
9-5080580-G-A	c.2331G>A	p.W777*	Nonsense	18/25	-	4
9-5080581-G-A	c.2332G>A	p.A778T	Missense	18/25	-	8
9-5080582-C-T	c.2333C>T	p.A778V	Missense	18/25	-	3
9-5080584-G-A	c.2335G>A	p.E779K	Missense	18/25	-	1
9-5080585-A-T	c.2336A>T	p.E779V	Missense	18/25	-	1
9-5080586-A-G	c.2337A>G	p.E779=	Synonymous	18/25	-	1
9-5080593-A-T	c.2344A>T	p.N782Y	Missense	18/25	-	1
9-5080594-A-G	c.2345A>G	p.N782S	Missense	18/25	-	1
9-5080596-C-A	c.2347C>A	p.L783I	Missense	18/25	-	1
9-5080596-C-T	c.2347C>T	p.L783F	Missense	18/25	-	2
9-5080605-A-G	c.2356A>G	p.N786D	Missense	18/25	-	1
9-5080608-T-A	c.2359T>A	p.C787S	Missense	18/25	-	1
9-5080608-T-C	c.2359T>C	p.C787R	Missense	18/25	-	4
9-5080611-A-G	c.2362A>G	p.M788V	Missense	18/25	-	1
9-5080612-T-C	c.2363T>C	p.M788T	Missense	18/25	-	2
9-5080613-G-A	c.2364G>A	p.M788I	Missense	18/25	-	2
9-5080613-G-C	c.2364G>C	p.M788I	Missense	18/25	-	2
9-5080613-G-T	c.2364G>T	p.M788I	Missense	18/25	-	3
9-5080614-G-A	c.2365G>A	p.D789N	Missense	18/25	-	3
9-5080614-GAT-TATATCAAC	c.2365_2367delinsTATATCAAC	p.D789delinsYIN	MultiAAMissense	18/25	-	1
9-5080614-G-T	c.2365G>T	p.D789Y	Missense	18/25	-	1
9-5080617-TAT-GAG	c.2368_2370delinsGAG	p.Y790E	Missense	18/25	-	1
9-5080618-A-T	c.2369A>T	p.Y790F	Missense	18/25	-	1
9-5080620-G-T	c.2371G>T	p.E791*	Nonsense	18/25	-	1
9-5080622-A-G	c.2373A>G	p.E791=	Synonymous	18/25	-	1
9-5080623-C-G	c.2374C>G	p.P792A	Missense	18/25	-	1
9-5080623-C-T	c.2374C>T	p.P792S	Missense	18/25	-	1
9-5080624-C-T	c.2375C>T	p.P792L	Missense	18/25	-	1
9-5080626-G-A	c.2377G>A	p.D793N	Missense	18/25	-	4
9-5080629-T-A	c.2380T>A	p.F794I	Missense	18/25	-	1
9-5080629-TT-CA	c.2380_2381delinsCA	p.F794H	Missense	18/25	-	5
9-5080629-TTC-CAA	c.2380_2382delinsCAA	p.F794Q	Missense	18/25	-	1
9-5080631-C-T	c.2382C>T	p.F794=	Synonymous	18/25	-	2
9-5080632-A-G	c.2383A>G	p.R795G	Missense	18/25	-	1
9-5080634-G-T	c.2385G>T	p.R795S	Missense	18/25	-	3
9-5080636-C-T	c.2387C>T	p.P796L	Missense	18/25	-	2
9-5080638-TC-AA	c.2389_2390delinsAA	p.S797N	Missense	18/25	-	1
9-5080635-CCTT-C	c.2390_2392del	p.S797del	InFrameDeletion	18/25	-	1
9-5080639-C-G	c.2390C>G	p.S797C	Missense	18/25	-	7
9-5080639-C-T	c.2390C>T	p.S797F	Missense	18/25	-	2
9-5080643-C-T	c.2394C>T	p.F798=	Synonymous	18/25	-	1
9-5080644-AGA-TGG	c.2395_2397delinsTGG	p.R799W	Missense	18/25	-	1
9-5080644-A-T	c.2395A>T	p.R799*	Nonsense	18/25	-	1
9-5080645-G-A	c.2396G>A	p.R799K	Missense	18/25	-	1
9-5080645-GA-TG	c.2396_2397delinsTG	p.R799M	Missense	18/25	-	1
9-5080645-G-C	c.2396G>C	p.R799T	Missense	18/25	-	1
9-5080645-G-T	c.2396G>T	p.R799I	Missense	18/25	-	1
9-5080647-G-A	c.2398G>A	p.A800T	Missense	18/25	-	1
9-5080648-C-A	c.2399C>A	p.A800D	Missense	18/25	-	1
9-5080650-A-C	c.2401A>C	p.I801L	Missense	18/25	-	1
9-5080650-A-G	c.2401A>G	p.I801V	Missense	18/25	-	1
9-5080650-A-T	c.2401A>T	p.I801F	Missense	18/25	-	1
9-5080652-C-A	c.2403C>A	p.I801=	Synonymous	18/25	-	1
9-5080652-C-T	c.2403C>T	p.I801=	Synonymous	18/25	-	2
9-5080656-CGA-AGC	c.2407_2409delinsAGC	p.R803S	Missense	18/25	-	1
9-5080656-C-T	c.2407C>T	p.R803*	Nonsense	18/25	-	3
9-5080657-G-A	c.2408G>A	p.R803Q	Missense	18/25	-	4
9-5080659-G-A	c.2410G>A	p.D804N	Missense	18/25	-	1
9-5080659-G-T	c.2410G>T	p.D804Y	Missense	18/25	-	1
9-5080660-A-G	c.2411A>G	p.D804G	Missense	18/25	-	2
9-5080661-T-A	c.2412T>A	p.D804E	Missense	18/25	-	1
9-5080661-T-G	c.2412T>G	p.D804E	Missense	18/25	-	1
9-5080663-T-C	c.2414T>C	p.L805P	Missense	18/25	-	1
9-5080663-T-G	c.2414T>G	p.L805R	Missense	18/25	-	1
9-5080664-T-G	c.2415T>G	p.L805=	Synonymous	18/25	-	1
9-5080665-A-C	c.2416A>C	p.N806H	Missense	18/25	-	1
9-5080664-TA-T	c.2417del	p.N806Tfs*11	Frameshift	18/25	-	1
9-5080669-G-A	c.2420G>A	p.S807N	Missense	18/25	-	1
9-5080672-T-G	c.2423T>G	p.L808W	Missense	18/25	-	7
9-5080673-G-T	c.2424G>T	p.L808F	Missense	18/25	-	1
9-5080674-T-A	c.2425T>A	p.F809I	Missense	18/25	-	1
9-5080676-T-A	c.2427T>A	p.F809L	Missense	18/25	-	1
9-5080677-A-T	c.2428A>T	p.T810S	Missense	18/25	-	1
9-5080678-C-G	c.2429C>G	p.T810S	Missense	18/25	-	1
9-5080678-C-T	c.2429C>T	p.T810I	Missense	18/25	-	1
9-5080679-T-A	c.2430T>A	p.T810=	Synonymous	18/25	-	1
9-5080679-T-C	c.2430T>C	p.T810=	Synonymous	18/25	-	2
9-5080679-T-G	c.2430T>G	p.T810=	Synonymous	18/25	-	1
9-5080680-C-A	c.2431C>A	p.P811T	Missense	18/25	-	2
9-5080680-C-T	c.2431C>T	p.P811S	Missense	18/25	-	1
9-5080683-G-C	c.2434G>C	p.D812H	Missense	18/25	-	1
9-5080683-G-T	c.2434G>T	p.D812Y	Missense	18/25	-	2
9-5080892-CTTTT-C	c.2434+227_2434+230del	-	IntronicDeletion	-	18/24	1
9-5080990-G-T	c.2434+307G>T	-	IntronicSNV	-	18/24	1
9-5081334-C-G	c.2435-391C>G	-	IntronicSNV	-	18/24	5
9-5081334-C-T	c.2435-391C>T	-	IntronicSNV	-	18/24	5
9-5081478-T-G	c.2435-247T>G	-	IntronicSNV	-	18/24	1
9-5081585-A-G	c.2435-140A>G	-	IntronicSNV	-	18/24	6
9-5081725-A-T	c.2435A>T	p.D812V	Missense	19/25	-	4
9-5081726-T-C	c.2436T>C	p.D812=	Synonymous	19/25	-	1
9-5081727-T-G	c.2437T>G	p.Y813D	Missense	19/25	-	3
9-5081728-A-C	c.2438A>C	p.Y813S	Missense	19/25	-	1
9-5081728-A-T	c.2438A>T	p.Y813F	Missense	19/25	-	9
9-5081729-T-C	c.2439T>C	p.Y813=	Synonymous	19/25	-	1
9-5081728-A-ATGTAACTAATATCCTGATTATTTGCTG	c.2440_2441insTAACTAATATCCTGATTATTTGCTGTG	p.Y813_E814insVTNILIICC	InFrameInsertion	19/25	-	1
9-5081730-GA-TC	c.2440_2441inv	p.E814S	Missense	19/25	-	1
9-5081730-G-T	c.2440G>T	p.E814*	Nonsense	19/25	-	2
9-5081732-A-AC	c.2443dup	p.L815Pfs*6	Frameshift	19/25	-	1
9-5081733-C-A	c.2443C>A	p.L815I	Missense	19/25	-	2
9-5081734-T-C	c.2444T>C	p.L815P	Missense	19/25	-	7
9-5081740-C-A	c.2450C>A	p.T817K	Missense	19/25	-	1
9-5081742-G-T	c.2452G>T	p.E818*	Nonsense	19/25	-	2
9-5081748-G-T	c.2458G>T	p.D820Y	Missense	19/25	-	8
9-5081749-A-G	c.2459A>G	p.D820G	Missense	19/25	-	1
9-5081749-A-T	c.2459A>T	p.D820V	Missense	19/25	-	1
9-5081753-G-A	c.2463G>A	p.M821I	Missense	19/25	-	2
9-5081753-G-C	c.2463G>C	p.M821I	Missense	19/25	-	1
9-5081753-G-T	c.2463G>T	p.M821I	Missense	19/25	-	1
9-5081754-T-G	c.2464T>G	p.L822V	Missense	19/25	-	1
9-5081754-TT-AG	c.2464_2465delinsAG	p.L822R	Missense	19/25	-	1
9-5081757-C-T	c.2467C>T	p.P823S	Missense	19/25	-	1
9-5081758-C-T	c.2468C>T	p.P823L	Missense	19/25	-	6
9-5081760-A-C	c.2470A>C	p.N824H	Missense	19/25	-	1
9-5081766-AG-CC	c.2476_2477delinsCC	p.R826P	Missense	19/25	-	1
9-5081768-G-T	c.2478G>T	p.R826S	Missense	19/25	-	2
9-5081769-A-G	c.2479A>G	p.I827V	Missense	19/25	-	1
9-5081771-A-T	c.2481A>T	p.I827=	Synonymous	19/25	-	1
9-5081772-G-T	c.2482G>T	p.G828C	Missense	19/25	-	1
9-5081774-T-A	c.2484T>A	p.G828=	Synonymous	19/25	-	1
9-5081774-T-C	c.2484T>C	p.G828=	Synonymous	19/25	-	1
9-5081774-T-G	c.2484T>G	p.G828=	Synonymous	19/25	-	1
9-5081775-G-A	c.2485G>A	p.A829T	Missense	19/25	-	2
9-5081775-G-C	c.2485G>C	p.A829P	Missense	19/25	-	5
9-5081776-C-G	c.2486C>G	p.A829G	Missense	19/25	-	1
9-5081776-C-T	c.2486C>T	p.A829V	Missense	19/25	-	1
9-5081778-C-G	c.2488C>G	p.L830V	Missense	19/25	-	3
9-5081778-CT-TA	c.2488_2489delinsTA	p.L830*	Missense	19/25	-	2
9-5081778-C-T	c.2488C>T	p.L830=	Synonymous	19/25	-	7
9-5081780-G-A	c.2490G>A	p.L830=	Synonymous	19/25	-	45
9-5081780-G-C	c.2490G>C	p.L830=	Synonymous	19/25	-	32
9-5081780-G-T	c.2490G>T	p.L830=	Synonymous	19/25	-	4
9-5081781-G-A	c.2491G>A	p.G831R	Missense	19/25	-	1
9-5081781-G-C	c.2491G>C	p.G831R	Missense	19/25	-	1
9-5081781-G-T	c.2491G>T	p.G831W	Missense	19/25	-	2
9-5081782-G-A	c.2492G>A	p.G831E	Missense	19/25	-	2
9-5081788-C-A	c.2498C>A	p.S833Y	Missense	19/25	-	1
9-5081788-C-G	c.2498C>G	p.S833C	Missense	19/25	-	1
9-5081789-T-A	c.2499T>A	p.S833=	Synonymous	19/25	-	1
9-5081789-T-C	c.2499T>C	p.S833=	Synonymous	19/25	-	1
9-5081789-T-G	c.2499T>G	p.S833=	Synonymous	19/25	-	1
9-5081791-G-A	c.2501G>A	p.G834D	Missense	19/25	-	1
9-5081793-G-A	c.2503G>A	p.A835T	Missense	19/25	-	3
9-5081793-G-T	c.2503G>T	p.A835S	Missense	19/25	-	6
9-5081794-C-G	c.2504C>G	p.A835G	Missense	19/25	-	1
9-5081798-T-A	c.2508T>A	p.F836L	Missense	19/25	-	1
9-5081805-C-A	c.2515C>A	p.R839=	Synonymous	19/25	-	1
9-5081805-C-G	c.2515C>G	p.R839G	Missense	19/25	-	1
9-5081805-CGG-TGT	c.2515_2517delinsTGT	p.R839C	Missense	19/25	-	1
9-5081805-C-T	c.2515C>T	p.R839W	Missense	19/25	-	3
9-5081807-G-A	c.2517G>A	p.R839=	Synonymous	19/25	-	1
9-5081807-G-C	c.2517G>C	p.R839=	Synonymous	19/25	-	1
9-5081807-G-T	c.2517G>T	p.R839=	Synonymous	19/25	-	1
9-5081806-G-A	c.2516G>A	p.R839Q	Missense	19/25	-	2
9-5081808-G-A	c.2518G>A	p.D840N	Missense	19/25	-	3
9-5081808-G-C	c.2518G>C	p.D840H	Missense	19/25	-	1
9-5081809-A-G	c.2519A>G	p.D840G	Missense	19/25	-	1
9-5081811-C-T	c.2521C>T	p.P841S	Missense	19/25	-	5
9-5081812-C-G	c.2522C>G