APC

APC APC regulator of WNT signaling pathway

Annotation transcript: NM_000038.6

13281 unique variant annotations were identified in 6289 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
5-112073598-A-C	c.-43A>C	-	5_prime_UTR_variant	1/16	-	1
5-112073664-A-G	c.-19+42A>G	-	intron_variant	-	1/15	2
5-112073671-A-G	c.-19+49A>G	-	intron_variant	-	1/15	2
5-112073675-T-C	c.-19+53T>C	-	intron_variant	-	1/15	2
5-112073675-T-G	c.-19+53T>G	-	intron_variant	-	1/15	2
5-112073763-T-C	c.-19+141T>C	-	intron_variant	-	1/15	1
5-112073770-G-C	c.-19+148G>C	-	intron_variant	-	1/15	1
5-112074269-A-C	c.-19+647A>C	-	intron_variant	-	1/15	8
5-112074269-A-G	c.-19+647A>G	-	intron_variant	-	1/15	8
5-112074356-C-T	c.-19+734C>T	-	intron_variant	-	1/15	2
5-112074722-C-G	c.-19+1100C>G	-	intron_variant	-	1/15	1
5-112077447-T-A	c.-19+3825T>A	-	intron_variant	-	1/15	1
5-112077770-A-C	c.-19+4148A>C	-	intron_variant	-	1/15	1
5-112077770-A-G	c.-19+4148A>G	-	intron_variant	-	1/15	1
5-112077920-G-C	c.-19+4298G>C	-	intron_variant	-	1/15	1
5-112078782-A-G	c.-19+5160A>G	-	intron_variant	-	1/15	4
5-112079882-T-G	c.-19+6260T>G	-	intron_variant	-	1/15	1
5-112080728-G-A	c.-19+7106G>A	-	intron_variant	-	1/15	1
5-112080728-G-C	c.-19+7106G>C	-	intron_variant	-	1/15	1
5-112080728-G-T	c.-19+7106G>T	-	intron_variant	-	1/15	1
5-112081379-C-A	c.-19+7757C>A	-	intron_variant	-	1/15	1
5-112081924-A-G	c.-19+8302A>G	-	intron_variant	-	1/15	4
5-112085611-T-G	c.-18-4959T>G	-	IntronicSNV	-	1/15	1
5-112085665-G-T	c.-18-4905G>T	-	IntronicSNV	-	1/15	1
5-112086165-T-A	c.-18-4405T>A	-	IntronicSNV	-	1/15	1
5-112086874-C-T	c.-18-3696C>T	-	IntronicSNV	-	1/15	1
5-112087327-T-G	c.-18-3243T>G	-	IntronicSNV	-	1/15	6
5-112087712-T-C	c.-18-2858T>C	-	IntronicSNV	-	1/15	1
5-112088507-G-A	c.-18-2063G>A	-	IntronicSNV	-	1/15	2
5-112089282-T-C	c.-18-1288T>C	-	IntronicSNV	-	1/15	2
5-112089480-T-C	c.-18-1090T>C	-	IntronicSNV	-	1/15	3
5-112090588-A-G	c.1A>G	p.M1?	Missense	2/16	-	2
5-112090588-A-T	c.1A>T	p.M1?	Missense	2/16	-	1
5-112090589-ATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAAC-A	c.3_61del	p.M1_?21	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion	2/16	-	1
5-112090589-T-C	c.2T>C	p.M1?	Missense	2/16	-	1
5-112090590-G-A	c.3G>A	p.M1?	Missense	2/16	-	2
5-112090590-G-C	c.3G>C	p.M1?	Missense	2/16	-	2
5-112090590-G-T	c.3G>T	p.M1?	Missense	2/16	-	2
5-112090589-T-TG	c.4dup	p.A2Gfs*6	Frameshift	2/16	-	1
5-112090591-G-A	c.4G>A	p.A2T	Missense	2/16	-	4
5-112090591-G-T	c.4G>T	p.A2S	Missense	2/16	-	1
5-112090592-C-A	c.5C>A	p.A2D	Missense	2/16	-	5
5-112090592-C-T	c.5C>T	p.A2V	Missense	2/16	-	3
5-112090593-T-A	c.6T>A	p.A2=	Synonymous	2/16	-	7
5-112090593-T-C	c.6T>C	p.A2=	Synonymous	2/16	-	7
5-112090593-T-G	c.6T>G	p.A2=	Synonymous	2/16	-	7
5-112090594-G-A	c.7G>A	p.A3T	Missense	2/16	-	8
5-112090594-G-C	c.7G>C	p.A3P	Missense	2/16	-	1
5-112090594-GCA-TTT	c.7_9delinsTTT	p.A3F	Missense	2/16	-	1
5-112090594-G-T	c.7G>T	p.A3S	Missense	2/16	-	2
5-112090594-TG-T	c.7del	p.A3Qfs*8	Frameshift	2/16	-	1
5-112090595-C-T	c.8C>T	p.A3V	Missense	2/16	-	3
5-112090596-A-C	c.9A>C	p.A3=	Synonymous	2/16	-	7
5-112090596-A-G	c.9A>G	p.A3=	Synonymous	2/16	-	7
5-112090596-A-T	c.9A>T	p.A3=	Synonymous	2/16	-	7
5-112090597-G-A	c.10G>A	p.A4T	Missense	2/16	-	6
5-112090597-G-C	c.10G>C	p.A4P	Missense	2/16	-	2
5-112090598-C-T	c.11C>T	p.A4V	Missense	2/16	-	1
5-112090599-T-A	c.12T>A	p.A4=	Synonymous	2/16	-	4
5-112090599-T-C	c.12T>C	p.A4=	Synonymous	2/16	-	4
5-112090599-T-G	c.12T>G	p.A4=	Synonymous	2/16	-	4
5-112090600-TC-AT	c.13_14delinsAT	p.S5I	Missense	2/16	-	1
5-112090601-C-A	c.14C>A	p.S5*	Nonsense	2/16	-	3
5-112090601-C-T	c.14C>T	p.S5L	Missense	2/16	-	4
5-112090601-TC-T	c.14del	p.S5Yfs*6	Frameshift	2/16	-	2
5-112090602-A-C	c.15A>C	p.S5=	Synonymous	2/16	-	2
5-112090602-A-G	c.15A>G	p.S5=	Synonymous	2/16	-	4
5-112090602-A-T	c.15A>T	p.S5=	Synonymous	2/16	-	2
5-112090604-A-C	c.17A>C	p.Y6S	Missense	2/16	-	1
5-112090604-TA-T	c.17del	p.Y6Lfs*5	Frameshift	2/16	-	1
5-112090605-T-C	c.18T>C	p.Y6=	Synonymous	2/16	-	1
5-112090606-G-A	c.19G>A	p.D7N	Missense	2/16	-	2
5-112090606-GAT-TAA	c.19_21delinsTAA	p.D7*	Nonsense	2/16	-	1
5-112090606-G-C	c.19G>C	p.D7H	Missense	2/16	-	1
5-112090606-G-T	c.19G>T	p.D7Y	Missense	2/16	-	1
5-112090607-GA-G	c.20del	p.D7Vfs*4	Frameshift	2/16	-	1
5-112090608-T-C	c.21T>C	p.D7=	Synonymous	2/16	-	3
5-112090609-C-G	c.22C>G	p.Q8E	Missense	2/16	-	1
5-112090609-C-T	c.22C>T	p.Q8*	Nonsense	2/16	-	4
5-112090613-T-TTTTA	c.26_27insTTTA	p.L9Ffs*7	Frameshift	2/16	-	1
5-112090614-G-T	c.27G>T	p.L9F	Missense	2/16	-	2
5-112090615-TT-AA	c.28_29inv	p.L10K	Missense	2/16	-	2
5-112090615-TT-CC	c.28_29delinsCC	p.L10P	Missense	2/16	-	4
5-112090615-TT-GA	c.28_29delinsGA	p.L10E	Missense	2/16	-	1
5-112090615-TT-GC	c.28_29delinsGC	p.L10A	Missense	2/16	-	11
5-112090616-T-A	c.29T>A	p.L10*	Nonsense	2/16	-	1
5-112090616-T-G	c.29T>G	p.L10*	Nonsense	2/16	-	2
5-112090617-A-C	c.30A>C	p.L10F	Missense	2/16	-	1
5-112090617-A-T	c.30A>T	p.L10F	Missense	2/16	-	1
5-112090618-AA-CC	c.31_32delinsCC	p.K11P	Missense	2/16	-	1
5-112090618-AAG-TTT	c.31_33delinsTTT	p.K11F	Missense	2/16	-	1
5-112090618-A-C	c.31A>C	p.K11Q	Missense	2/16	-	1
5-112090618-A-G	c.31A>G	p.K11E	Missense	2/16	-	1
5-112090618-A-T	c.31A>T	p.K11*	Nonsense	2/16	-	1
5-112090616-TA-T	c.32del	p.K11Sfs*6	Frameshift	2/16	-	1
5-112090616-T-TA	c.32dup	p.Q12Afs*3	Frameshift	2/16	-	1
5-112090619-A-G	c.32A>G	p.K11R	Missense	2/16	-	14
5-112090619-A-T	c.32A>T	p.K11M	Missense	2/16	-	2
5-112090620-G-A	c.33G>A	p.K11=	Synonymous	2/16	-	1
5-112090620-G-C	c.33G>C	p.K11N	Missense	2/16	-	1
5-112090620-G-T	c.33G>T	p.K11N	Missense	2/16	-	1
5-112090621-C-A	c.34C>A	p.Q12K	Missense	2/16	-	1
5-112090621-CAA-GAC	c.34_36delinsGAC	p.Q12D	Missense	2/16	-	2
5-112090621-CAA-TGG	c.34_36delinsTGG	p.Q12W	Missense	2/16	-	7
5-112090621-CAA-TGT	c.34_36delinsTGT	p.Q12C	Missense	2/16	-	1
5-112090621-CA-GC	c.34_35delinsGC	p.Q12A	Missense	2/16	-	2
5-112090621-CA-GT	c.34_35delinsGT	p.Q12V	Missense	2/16	-	1
5-112090621-C-G	c.34C>G	p.Q12E	Missense	2/16	-	1
5-112090621-C-T	c.34C>T	p.Q12*	Nonsense	2/16	-	4
5-112090622-A-C	c.35A>C	p.Q12P	Missense	2/16	-	1
5-112090622-A-G	c.35A>G	p.Q12R	Missense	2/16	-	1
5-112090623-A-C	c.36A>C	p.Q12H	Missense	2/16	-	24
5-112090623-A-G	c.36A>G	p.Q12=	Synonymous	2/16	-	2
5-112090623-A-T	c.36A>T	p.Q12H	Missense	2/16	-	24
5-112090624-G-A	c.37G>A	p.V13I	Missense	2/16	-	3
5-112090624-G-T	c.37G>T	p.V13F	Missense	2/16	-	2
5-112090624-GT-CC	c.37_38delinsCC	p.V13P	Missense	2/16	-	1
5-112090624-GTT-ATG	c.37_39delinsATG	p.V13M	Missense	2/16	-	1
5-112090624-GT-TG	c.37_38delinsTG	p.V13C	Missense	2/16	-	1
5-112090625-T-C	c.38T>C	p.V13A	Missense	2/16	-	1
5-112090626-T-A	c.39T>A	p.V13=	Synonymous	2/16	-	1
5-112090626-T-C	c.39T>C	p.V13=	Synonymous	2/16	-	1
5-112090626-T-G	c.39T>G	p.V13=	Synonymous	2/16	-	1
5-112090627-G-A	c.40G>A	p.E14K	Missense	2/16	-	5
5-112090627-GAG-TGT	c.40_42delinsTGT	p.E14C	Missense	2/16	-	1
5-112090627-G-C	c.40G>C	p.E14Q	Missense	2/16	-	2
5-112090627-G-T	c.40G>T	p.E14*	Nonsense	2/16	-	2
5-112090626-TGAG-T	c.41_43del	p.E14del	InFrameDeletion	2/16	-	1
5-112090626-TGA-T	c.41_42del	p.E14Gfs*16	Frameshift	2/16	-	2
5-112090628-A-C	c.41A>C	p.E14A	Missense	2/16	-	1
5-112090628-A-G	c.41A>G	p.E14G	Missense	2/16	-	1
5-112090629-G-A	c.42G>A	p.E14=	Synonymous	2/16	-	2
5-112090629-G-C	c.42G>C	p.E14D	Missense	2/16	-	2
5-112090629-G-T	c.42G>T	p.E14D	Missense	2/16	-	2
5-112090630-G-A	c.43G>A	p.A15T	Missense	2/16	-	5
5-112090630-GC-AA	c.43_44delinsAA	p.A15K	Missense	2/16	-	1
5-112090630-GCA-ATG	c.43_45delinsATG	p.A15M	Missense	2/16	-	1
5-112090630-GCA-CAT	c.43_45delinsCAT	p.A15H	Missense	2/16	-	1
5-112090630-GC-AG	c.43_44delinsAG	p.A15R	Missense	2/16	-	1
5-112090630-GCA-TGG	c.43_45delinsTGG	p.A15W	Missense	2/16	-	1
5-112090630-GCA-TGT	c.43_45delinsTGT	p.A15C	Missense	2/16	-	4
5-112090630-GC-CT	c.43_44delinsCT	p.A15L	Missense	2/16	-	3
5-112090630-GC-TA	c.43_44delinsTA	p.A15*	Nonsense	2/16	-	4
5-112090630-G-T	c.43G>T	p.A15S	Missense	2/16	-	4
5-112090631-C-A	c.44C>A	p.A15E	Missense	2/16	-	2
5-112090631-CA-AC	c.44_45delinsAC	p.A15D	Missense	2/16	-	5
5-112090631-C-G	c.44C>G	p.A15G	Missense	2/16	-	3
5-112090631-C-T	c.44C>T	p.A15V	Missense	2/16	-	4
5-112090632-A-C	c.45A>C	p.A15=	Synonymous	2/16	-	3
5-112090632-A-G	c.45A>G	p.A15=	Synonymous	2/16	-	4
5-112090632-A-T	c.45A>T	p.A15=	Synonymous	2/16	-	3
5-112090633-C-A	c.46C>A	p.L16M	Missense	2/16	-	1
5-112090633-CT-GA	c.46_47delinsGA	p.L16E	Missense	2/16	-	1
5-112090633-CT-TC	c.46_47delinsTC	p.L16S	Missense	2/16	-	1
5-112090631-CACTGAAGATGGAGA-C	c.48_61del	p.M18Sfs*8	Frameshift	2/16	-	1
5-112090633-C-T	c.46C>T	p.L16=	Synonymous	2/16	-	3
5-112090635-G-A	c.48G>A	p.L16=	Synonymous	2/16	-	1
5-112090635-G-C	c.48G>C	p.L16=	Synonymous	2/16	-	1
5-112090635-G-T	c.48G>T	p.L16=	Synonymous	2/16	-	1
5-112090636-A-C	c.49A>C	p.K17Q	Missense	2/16	-	1
5-112090636-A-G	c.49A>G	p.K17E	Missense	2/16	-	1
5-112090637-A-C	c.50A>C	p.K17T	Missense	2/16	-	1
5-112090638-AG-A	c.51del	p.M18Wfs*10	Frameshift	2/16	-	1
5-112090638-G-A	c.51G>A	p.K17=	Synonymous	2/16	-	3
5-112090638-G-C	c.51G>C	p.K17N	Missense	2/16	-	2
5-112090638-G-T	c.51G>T	p.K17N	Missense	2/16	-	1
5-112090638-G-GA	c.52dup	p.M18Nfs*13	Frameshift	2/16	-	1
5-112090639-A-G	c.52A>G	p.M18V	Missense	2/16	-	2
5-112090639-AT-GC	c.52_53delinsGC	p.M18A	Missense	2/16	-	1
5-112090639-AT-TA	c.52_53delinsTA	p.M18*	Nonsense	2/16	-	1
5-112090640-T-A	c.53T>A	p.M18K	Missense	2/16	-	3
5-112090640-T-C	c.53T>C	p.M18T	Missense	2/16	-	2
5-112090640-TG-GC	c.53_54delinsGC	p.M18S	Missense	2/16	-	8
5-112090641-G-A	c.54G>A	p.M18I	Missense	2/16	-	1
5-112090640-TGGA-T	c.55_57del	p.E19del	InFrameDeletion	2/16	-	3
5-112090642-G-A	c.55G>A	p.E19K	Missense	2/16	-	1
5-112090642-GA-AG	c.55_56delinsAG	p.E19R	Missense	2/16	-	1
5-112090642-GAG-TTT	c.55_57delinsTTT	p.E19F	Missense	2/16	-	1
5-112090642-G-C	c.55G>C	p.E19Q	Missense	2/16	-	1
5-112090642-G-GA	c.56dup	p.N20Efs*11	Frameshift	2/16	-	1
5-112090643-A-C	c.56A>C	p.E19A	Missense	2/16	-	2
5-112090644-G-A	c.57G>A	p.E19=	Synonymous	2/16	-	2
5-112090644-G-C	c.57G>C	p.E19D	Missense	2/16	-	5
5-112090644-G-T	c.57G>T	p.E19D	Missense	2/16	-	4
5-112090645-AA-CC	c.58_59delinsCC	p.N20P	Missense	2/16	-	1
5-112090645-AAC-CAA	c.58_60delinsCAA	p.N20Q	Missense	2/16	-	1
5-112090645-AAC-TAA	c.58_60delinsTAA	p.N20*	Nonsense	2/16	-	1
5-112090645-AA-TT	c.58_59inv	p.N20F	Missense	2/16	-	1
5-112090646-AC-GG	c.59_60delinsGG	p.N20R	Missense	2/16	-	1
5-112090646-A-G	c.59A>G	p.N20S	Missense	2/16	-	1
5-112090646-A-T	c.59A>T	p.N20I	Missense	2/16	-	1
5-112090647-C-A	c.60C>A	p.N20K	Missense	2/16	-	1
5-112090647-C-G	c.60C>G	p.N20K	Missense	2/16	-	1
5-112090647-C-T	c.60C>T	p.N20=	Synonymous	2/16	-	2
5-112090648-TCA-AAC	c.61_63delinsAAC	p.S21N	Missense	2/16	-	1
5-112090648-TCA-CAT	c.61_63delinsCAT	p.S21H	Missense	2/16	-	1
5-112090648-TCA-GAC	c.61_63delinsGAC	p.S21D	Missense	2/16	-	2
5-112090648-TC-GA	c.61_62inv	p.S21E	Missense	2/16	-	6
5-112090648-TC-GG	c.61_62delinsGG	p.S21G	Missense	2/16	-	2
5-112090648-T-G	c.61T>G	p.S21A	Missense	2/16	-	25
5-112090649-C-A	c.62C>A	p.S21*	Nonsense	2/16	-	2
5-112090649-CA-GT	c.62_63delinsGT	p.S21C	Missense	2/16	-	3
5-112090649-CA-TT	c.62_63delinsTT	p.S21F	Missense	2/16	-	2
5-112090649-C-G	c.62C>G	p.S21*	Nonsense	2/16	-	9
5-112090650-A-C	c.63A>C	p.S21=	Synonymous	2/16	-	1
5-112090650-A-G	c.63A>G	p.S21=	Synonymous	2/16	-	1
5-112090650-A-T	c.63A>T	p.S21=	Synonymous	2/16	-	1
5-112090651-AA-GC	c.64_65delinsGC	p.N22A	Missense	2/16	-	7
5-112090651-A-G	c.64A>G	p.N22D	Missense	2/16	-	2
5-112090651-A-T	c.64A>T	p.N22Y	Missense	2/16	-	1
5-112090649-CA-C	c.65del	p.N22Ifs*6	Frameshift	2/16	-	1
5-112090652-AAT-A	c.65_66del	p.N22Tfs*8	Frameshift	2/16	-	1
5-112090652-A-C	c.65A>C	p.N22T	Missense	2/16	-	1
5-112090652-A-G	c.65A>G	p.N22S	Missense	2/16	-	2
5-112090653-T-C	c.66T>C	p.N22=	Synonymous	2/16	-	1
5-112090654-C-A	c.67C>A	p.L23I	Missense	2/16	-	2
5-112090654-C-T	c.67C>T	p.L23F	Missense	2/16	-	4
5-112090654-CT-GC	c.67_68delinsGC	p.L23A	Missense	2/16	-	5
5-112090655-T-C	c.68T>C	p.L23P	Missense	2/16	-	1
5-112090655-T-G	c.68T>G	p.L23R	Missense	2/16	-	1
5-112090653-T-TCTTCTTGCACTTGTAGAGGAC	c.70_71insTTGCACTTGTAGAGGACCTTC	p.L23_R24insLALVEDL	InFrameInsertion	2/16	-	1
5-112090657-C-A	c.70C>A	p.R24=	Synonymous	2/16	-	2
5-112090657-C-G	c.70C>G	p.R24G	Missense	2/16	-	1
5-112090657-CGA-TGG	c.70_72delinsTGG	p.R24W	Missense	2/16	-	2
5-112090657-CGA-TGT	c.70_72delinsTGT	p.R24C	Missense	2/16	-	7
5-112090657-CG-GC	c.70_71delinsGC	p.R24A	Missense	2/16	-	4
5-112090657-C-T	c.70C>T	p.R24*	Nonsense	2/16	-	22
5-112090659-A-C	c.72A>C	p.R24=	Synonymous	2/16	-	2
5-112090659-A-G	c.72A>G	p.R24=	Synonymous	2/16	-	2
5-112090659-A-T	c.72A>T	p.R24=	Synonymous	2/16	-	2
5-112090658-G-A	c.71G>A	p.R24Q	Missense	2/16	-	4
5-112090658-GA-AT	c.71_72delinsAT	p.R24H	Missense	2/16	-	1
5-112090658-G-T	c.71G>T	p.R24L	Missense	2/16	-	1
5-112090658-G-GA	c.72dup	p.Q25Tfs*6	Frameshift	2/16	-	1
5-112090660-C-A	c.73C>A	p.Q25K	Missense	2/16	-	2
5-112090660-CA-GC	c.73_74delinsGC	p.Q25A	Missense	2/16	-	1
5-112090660-C-T	c.73C>T	p.Q25*	Nonsense	2/16	-	1
5-112090661-A-G	c.74A>G	p.Q25R	Missense	2/16	-	1
5-112090661-CAA-C	c.74_75del	p.Q25Rfs*5	Frameshift	2/16	-	2
5-112090662-A-C	c.75A>C	p.Q25H	Missense	2/16	-	1
5-112090662-A-G	c.75A>G	p.Q25=	Synonymous	2/16	-	1
5-112090663-G-A	c.76G>A	p.E26K	Missense	2/16	-	3
5-112090663-GA-CC	c.76_77delinsCC	p.E26P	Missense	2/16	-	1
5-112090663-G-T	c.76G>T	p.E26*	Nonsense	2/16	-	1
5-112090664-A-C	c.77A>C	p.E26A	Missense	2/16	-	1
5-112090664-A-G	c.77A>G	p.E26G	Missense	2/16	-	2
5-112090665-G-A	c.78G>A	p.E26=	Synonymous	2/16	-	1
5-112090665-G-C	c.78G>C	p.E26D	Missense	2/16	-	2
5-112090665-G-T	c.78G>T	p.E26D	Missense	2/16	-	3
5-112090666-C-A	c.79C>A	p.L27I	Missense	2/16	-	2
5-112090666-C-G	c.79C>G	p.L27V	Missense	2/16	-	1
5-112090666-C-T	c.79C>T	p.L27=	Synonymous	2/16	-	1
5-112090666-CTA-TGT	c.79_81delinsTGT	p.L27C	Missense	2/16	-	1
5-112090666-CT-GC	c.79_80delinsGC	p.L27A	Missense	2/16	-	7
5-112090666-CT-TA	c.79_80delinsTA	p.L27*	Nonsense	2/16	-	1
5-112090667-CT-C	c.80del	p.L27Qfs*18	Frameshift	2/16	-	1
5-112090667-T-C	c.80T>C	p.L27P	Missense	2/16	-	2
5-112090667-T-G	c.80T>G	p.L27R	Missense	2/16	-	1
5-112090669-G-A	c.82G>A	p.E28K	Missense	2/16	-	3
5-112090669-GAA-TGT	c.82_84delinsTGT	p.E28C	Missense	2/16	-	2
5-112090669-GAA-TTT	c.82_84delinsTTT	p.E28F	Missense	2/16	-	2
5-112090669-G-T	c.82G>T	p.E28*	Nonsense	2/16	-	2
5-112090670-A-C	c.83A>C	p.E28A	Missense	2/16	-	2
5-112090671-A-C	c.84A>C	p.E28D	Missense	2/16	-	3
5-112090671-A-T	c.84A>T	p.E28D	Missense	2/16	-	3
5-112090672-G-A	c.85G>A	p.D29N	Missense	2/16	-	3
5-112090672-GA-TG	c.85_86delinsTG	p.D29C	Missense	2/16	-	1
5-112090672-G-C	c.85G>C	p.D29H	Missense	2/16	-	1
5-112090673-A-C	c.86A>C	p.D29A	Missense	2/16	-	2
5-112090674-T-C	c.87T>C	p.D29=	Synonymous	2/16	-	2
5-112090675-AA-GC	c.88_89delinsGC	p.N30A	Missense	2/16	-	3
5-112090675-AAT-GAG	c.88_90delinsGAG	p.N30E	Missense	2/16	-	5
5-112090675-AAT-TAA	c.88_90delinsTAA	p.N30*	Nonsense	2/16	-	1
5-112090675-A-G	c.88A>G	p.N30D	Missense	2/16	-	1
5-112090674-TA-T	c.89del	p.N30Ifs*15	Frameshift	2/16	-	2
5-112090676-A-G	c.89A>G	p.N30S	Missense	2/16	-	1
5-112090677-T-A	c.90T>A	p.N30K	Missense	2/16	-	1
5-112090677-T-C	c.90T>C	p.N30=	Synonymous	2/16	-	1
5-112090677-T-G	c.90T>G	p.N30K	Missense	2/16	-	1
5-112090678-T-A	c.91T>A	p.S31T	Missense	2/16	-	1
5-112090678-T-C	c.91T>C	p.S31P	Missense	2/16	-	2
5-112090678-TC-AA	c.91_92delinsAA	p.S31N	Missense	2/16	-	3
5-112090678-TC-CG	c.91_92delinsCG	p.S31R	Missense	2/16	-	2
5-112090678-TC-GA	c.91_92inv	p.S31D	Missense	2/16	-	1
5-112090678-T-G	c.91T>G	p.S31A	Missense	2/16	-	3
5-112090679-C-G	c.92C>G	p.S31C	Missense	2/16	-	1
5-112090678-TC-T	c.93del	p.N32Ifs*13	Frameshift	2/16	-	1
5-112090681-AA-GC	c.94_95delinsGC	p.N32A	Missense	2/16	-	1
5-112090681-A-C	c.94A>C	p.N32H	Missense	2/16	-	2
5-112090681-A-G	c.94A>G	p.N32D	Missense	2/16	-	2
5-112090682-A-G	c.95A>G	p.N32S	Missense	2/16	-	11
5-112090684-C-A	c.97C>A	p.H33N	Missense	2/16	-	1
5-112090684-CA-TG	c.97_98inv	p.H33C	Missense	2/16	-	2
5-112090684-C-T	c.97C>T	p.H33Y	Missense	2/16	-	3
5-112090685-A-C	c.98A>C	p.H33P	Missense	2/16	-	3
5-112090685-A-G	c.98A>G	p.H33R	Missense	2/16	-	1
5-112090685-A-T	c.98A>T	p.H33L	Missense	2/16	-	8
5-112090686-T-A	c.99T>A	p.H33Q	Missense	2/16	-	2
5-112090686-T-G	c.99T>G	p.H33Q	Missense	2/16	-	3
5-112090687-C-G	c.100C>G	p.L34V	Missense	2/16	-	2
5-112090687-C-T	c.100C>T	p.L34F	Missense	2/16	-	3
5-112090687-CT-TA	c.100_101delinsTA	p.L34Y	Missense	2/16	-	1
5-112090687-CTT-GAG	c.100_102delinsGAG	p.L34E	Missense	2/16	-	1
5-112090688-T-C	c.101T>C	p.L34P	Missense	2/16	-	1
5-112090688-T-G	c.101T>G	p.L34R	Missense	2/16	-	1
5-112090689-T-A	c.102T>A	p.L34=	Synonymous	2/16	-	4
5-112090689-T-C	c.102T>C	p.L34=	Synonymous	2/16	-	3
5-112090689-T-G	c.102T>G	p.L34=	Synonymous	2/16	-	3
5-112090690-A-G	c.103A>G	p.T35A	Missense	2/16	-	3
5-112090690-A-T	c.103A>T	p.T35S	Missense	2/16	-	2
5-112090691-AC-A	c.104del	p.T35Kfs*10	Frameshift	2/16	-	1
5-112090691-C-A	c.104C>A	p.T35K	Missense	2/16	-	1
5-112090691-CA-AC	c.104_105delinsAC	p.T35N	Missense	2/16	-	1
5-112090691-CA-TG	c.104_105inv	p.T35M	Missense	2/16	-	1
5-112090691-C-T	c.104C>T	p.T35I	Missense	2/16	-	1
5-112090692-A-T	c.105A>T	p.T35=	Synonymous	2/16	-	1
5-112090693-AAA-TTT	c.106_108inv	p.K36F	Missense	2/16	-	2
5-112090693-AA-GC	c.106_107delinsGC	p.K36A	Missense	2/16	-	2
5-112090693-A-G	c.106A>G	p.K36E	Missense	2/16	-	2
5-112090694-AA-GC	c.107_108delinsGC	p.K36S	Missense	2/16	-	1
5-112090694-AA-TG	c.107_108delinsTG	p.K36M	Missense	2/16	-	3
5-112090694-A-G	c.107A>G	p.K36R	Missense	2/16	-	1
5-112090691-CA-C	c.108del	p.K36Nfs*9	Frameshift	2/16	-	2
5-112090691-C-CA	c.108dup	p.L37Tfs*4	Frameshift	2/16	-	1
5-112090696-C-G	c.109C>G	p.L37V	Missense	2/16	-	1
5-112090696-C-T	c.109C>T	p.L37=	Synonymous	2/16	-	1
5-112090696-CT-GA	c.109_110delinsGA	p.L37E	Missense	2/16	-	1
5-112090696-CT-GC	c.109_110delinsGC	p.L37A	Missense	2/16	-	3
5-112090696-C-CT	c.110dup	p.E38Gfs*3	Frameshift	2/16	-	1
5-112090699-G-A	c.112G>A	p.E38K	Missense	2/16	-	3
5-112090699-GA-AG	c.112_113delinsAG	p.E38R	Missense	2/16	-	1
5-112090699-G-T	c.112G>T	p.E38*	Nonsense	2/16	-	5
5-112090700-A-C	c.113A>C	p.E38A	Missense	2/16	-	1
5-112090700-A-G	c.113A>G	p.E38G	Missense	2/16	-	1
5-112090702-A-C	c.115A>C	p.T39P	Missense	2/16	-	2
5-112090702-A-G	c.115A>G	p.T39A	Missense	2/16	-	7
5-112090703-AC-A	c.116del	p.T39Mfs*6	Frameshift	2/16	-	1
5-112090703-C-G	c.116C>G	p.T39S	Missense	2/16	-	1
5-112090703-C-T	c.116C>T	p.T39I	Missense	2/16	-	1
5-112090704-CTG-C	c.117_118del	p.E40Gfs*3	Frameshift	2/16	-	1
5-112090705-G-A	c.118G>A	p.E40K	Missense	2/16	-	2
5-112090705-GA-TG	c.118_119delinsTG	p.E40W	Missense	2/16	-	1
5-112090705-G-C	c.118G>C	p.E40Q	Missense	2/16	-	2
5-112090705-G-T	c.118G>T	p.E40*	Nonsense	2/16	-	1
5-112090706-A-C	c.119A>C	p.E40A	Missense	2/16	-	1
5-112090706-A-G	c.119A>G	p.E40G	Missense	2/16	-	1
5-112090706-AG-GT	c.119_120delinsGT	p.E40G	Missense	2/16	-	1
5-112090707-G-A	c.120G>A	p.E40=	Synonymous	2/16	-	1
5-112090708-G-A	c.121G>A	p.A41T	Missense	2/16	-	3
5-112090708-G-C	c.121G>C	p.A41P	Missense	2/16	-	3
5-112090708-GC-AA	c.121_122delinsAA	p.A41K	Missense	2/16	-	2
5-112090708-GCA-AAC	c.121_123delinsAAC	p.A41N	Missense	2/16	-	2
5-112090708-GC-AG	c.121_122delinsAG	p.A41R	Missense	2/16	-	1
5-112090708-GC-AT	c.121_122delinsAT	p.A41I	Missense	2/16	-	1
5-112090708-GCA-TGT	c.121_123delinsTGT	p.A41C	Missense	2/16	-	2
5-112090708-GCA-TTT	c.121_123delinsTTT	p.A41F	Missense	2/16	-	3
5-112090708-GC-CT	c.121_122delinsCT	p.A41L	Missense	2/16	-	4
5-112090708-G-T	c.121G>T	p.A41S	Missense	2/16	-	1
5-112090709-C-A	c.122C>A	p.A41E	Missense	2/16	-	3
5-112090709-CA-AC	c.122_123delinsAC	p.A41D	Missense	2/16	-	4
5-112090709-C-G	c.122C>G	p.A41G	Missense	2/16	-	4
5-112090709-C-T	c.122C>T	p.A41V	Missense	2/16	-	5
5-112090709-C-CA	c.123dup	p.S42Ifs*2	Frameshift	2/16	-	1
5-112090710-A-C	c.123A>C	p.A41=	Synonymous	2/16	-	1
5-112090710-A-G	c.123A>G	p.A41=	Synonymous	2/16	-	1
5-112090710-A-T	c.123A>T	p.A41=	Synonymous	2/16	-	1
5-112090711-T-A	c.124T>A	p.S42T	Missense	2/16	-	1
5-112090711-T-C	c.124T>C	p.S42P	Missense	2/16	-	4
5-112090711-TC-CT	c.124_125delinsCT	p.S42L	Missense	2/16	-	1
5-112090712-C-A	c.125C>A	p.S42Y	Missense	2/16	-	1
5-112090712-C-G	c.125C>G	p.S42C	Missense	2/16	-	4
5-112090712-C-T	c.125C>T	p.S42F	Missense	2/16	-	3
5-112090712-TC-T	c.125del	p.S42Lfs*3	Frameshift	2/16	-	1
5-112090714-AA-GC	c.127_128delinsGC	p.N43A	Missense	2/16	-	1
5-112090714-A-C	c.127A>C	p.N43H	Missense	2/16	-	1
5-112090714-A-G	c.127A>G	p.N43D	Missense	2/16	-	1
5-112090713-TA-T	c.128del	p.N43Ifs*2	Frameshift	2/16	-	1
5-112090716-T-C	c.129T>C	p.N43=	Synonymous	2/16	-	1
5-112090716-T-TA	c.130dup	p.M44Nfs*6	Frameshift	2/16	-	1
5-112090717-A-G	c.130A>G	p.M44V	Missense	2/16	-	8
5-112090717-A-T	c.130A>T	p.M44L	Missense	2/16	-	1
5-112090718-T-C	c.131T>C	p.M44T	Missense	2/16	-	1
5-112090718-T-TG	c.132dup	p.K45Efs*5	Frameshift	2/16	-	1
5-112090719-G-A	c.132G>A	p.M44I	Missense	2/16	-	4
5-112090719-G-C	c.132G>C	p.M44I	Missense	2/16	-	4
5-112090719-G-T	c.132G>T	p.M44I	Missense	2/16	-	3
5-112090720-A-G	c.133A>G	p.K45E	Missense	2/16	-	1
5-112090720-A-T	c.133A>T	p.K45*	Nonsense	2/16	-	2
5-112090721-A-C	c.134A>C	p.K45T	Missense	2/16	-	1
5-112090721-A-G	c.134A>G	p.K45R	Missense	2/16	-	3
5-112090722-G-T	c.135G>T	p.K45N	Missense	2/16	-	1
5-112090723-G-A	c.135+1G>A	-	IntronicSNV	-	2/15	3
5-112090723-G-T	c.135+1G>T	-	IntronicSNV	-	2/15	2
5-112090724-T-C	c.135+2T>C	-	IntronicSNV	-	2/15	1
5-112090845-C-A	c.135+123C>A	-	IntronicSNV	-	2/15	1
5-112091704-C-G	c.135+982C>G	-	IntronicSNV	-	2/15	1
5-112091704-C-T	c.135+982C>T	-	IntronicSNV	-	2/15	1
5-112092057-A-G	c.135+1335A>G	-	IntronicSNV	-	2/15	1
5-112092058-A-C	c.135+1336A>C	-	IntronicSNV	-	2/15	1
5-112092402-T-G	c.135+1680T>G	-	IntronicSNV	-	2/15	1
5-112092843-A-G	c.135+2121A>G	-	IntronicSNV	-	2/15	1
5-112093955-A-G	c.135+3233A>G	-	IntronicSNV	-	2/15	2
5-112093955-A-T	c.135+3233A>T	-	IntronicSNV	-	2/15	1
5-112094460-C-A	c.135+3738C>A	-	IntronicSNV	-	2/15	1
5-112095140-C-T	c.135+4418C>T	-	IntronicSNV	-	2/15	1
5-112095534-AT-A	c.135+4821del	-	IntronicDeletion	-	2/15	1
5-112095775-T-A	c.135+5053T>A	-	IntronicSNV	-	2/15	1
5-112097234-G-A	c.136-4789G>A	-	IntronicSNV	-	2/15	1
5-112097234-G-C	c.136-4789G>C	-	IntronicSNV	-	2/15	1
5-112097351-A-G	c.136-4672A>G	-	IntronicSNV	-	2/15	8
5-112097757-A-G	c.136-4266A>G	-	IntronicSNV	-	2/15	1
5-112098911-G-A	c.136-3112G>A	-	IntronicSNV	-	2/15	2
5-112098938-T-A	c.136-3085T>A	-	IntronicSNV	-	2/15	2
5-112099028-A-G	c.136-2995A>G	-	IntronicSNV	-	2/15	2
5-112099028-A-T	c.136-2995A>T	-	IntronicSNV	-	2/15	2
5-112100027-G-A	c.136-1996G>A	-	IntronicSNV	-	2/15	1
5-112100595-A-C	c.136-1428A>C	-	IntronicSNV	-	2/15	2
5-112100928-A-G	c.136-1095A>G	-	IntronicSNV	-	2/15	1
5-112101457-G-T	c.136-566G>T	-	IntronicSNV	-	2/15	1
5-112101496-G-A	c.136-527G>A	-	IntronicSNV	-	2/15	2
5-112101793-C-A	c.136-230C>A	-	IntronicSNV	-	2/15	5
5-112101970-T-C	c.136-53T>C	-	IntronicSNV	-	2/15	9
5-112102023-G-A	c.136G>A	p.E46K	Missense	3/16	-	6
5-112102023-G-T	c.136G>T	p.E46*	Nonsense	3/16	-	3
5-112102024-A-C	c.137A>C	p.E46A	Missense	3/16	-	1
5-112102026-G-A	c.139G>A	p.V47I	Missense	3/16	-	3
5-112102026-G-T	c.139G>T	p.V47L	Missense	3/16	-	1
5-112102026-GTA-ATG	c.139_141delinsATG	p.V47M	Missense	3/16	-	1
5-112102027-T-C	c.140T>C	p.V47A	Missense	3/16	-	4
5-112102029-C-A	c.142C>A	p.L48I	Missense	3/16	-	1
5-112102029-C-T	c.142C>T	p.L48F	Missense	3/16	-	1
5-112102029-CT-GC	c.142_143delinsGC	p.L48A	Missense	3/16	-	1
5-112102030-T-G	c.143T>G	p.L48R	Missense	3/16	-	2
5-112102032-AA-CC	c.145_146delinsCC	p.K49P	Missense	3/16	-	1
5-112102032-AA-GC	c.145_146delinsGC	p.K49A	Missense	3/16	-	1
5-112102032-A-G	c.145A>G	p.K49E	Missense	3/16	-	2
5-112102032-A-T	c.145A>T	p.K49*	Nonsense	3/16	-	3
5-112102033-A-C	c.146A>C	p.K49T	Missense	3/16	-	3
5-112102033-A-G	c.146A>G	p.K49R	Missense	3/16	-	6
5-112102031-TAAAC-T	c.147_150del	p.K49Nfs*20	Frameshift	3/16	-	7
5-112102031-T-TA	c.147dup	p.Q50Tfs*7	Frameshift	3/16	-	2
5-112102034-A-C	c.147A>C	p.K49N	Missense	3/16	-	1
5-112102034-A-T	c.147A>T	p.K49N	Missense	3/16	-	1
5-112102035-CAA-TGT	c.148_150delinsTGT	p.Q50C	Missense	3/16	-	1
5-112102035-CAA-TTT	c.148_150delinsTTT	p.Q50F	Missense	3/16	-	1
5-112102035-CA-GC	c.148_149delinsGC	p.Q50A	Missense	3/16	-	1
5-112102035-C-G	c.148C>G	p.Q50E	Missense	3/16	-	2
5-112102035-C-T	c.148C>T	p.Q50*	Nonsense	3/16	-	1
5-112102036-A-C	c.149A>C	p.Q50P	Missense	3/16	-	1
5-112102036-A-G	c.149A>G	p.Q50R	Missense	3/16	-	1
5-112102035-C-CA	c.150dup	p.L51Tfs*6	Frameshift	3/16	-	1
5-112102038-AC-A	c.151del	p.L51Yfs*19	Frameshift	3/16	-	1
5-112102038-CTA-TGT	c.151_153delinsTGT	p.L51C	Missense	3/16	-	1
5-112102038-CT-TC	c.151_152delinsTC	p.L51S	Missense	3/16	-	1
5-112102041-CAA-TGT	c.154_156delinsTGT	p.Q52C	Missense	3/16	-	1
5-112102041-CA-GC	c.154_155delinsGC	p.Q52A	Missense	3/16	-	1
5-112102041-C-G	c.154C>G	p.Q52E	Missense	3/16	-	1
5-112102041-C-T	c.154C>T	p.Q52*	Nonsense	3/16	-	3
5-112102042-A-G	c.155A>G	p.Q52R	Missense	3/16	-	2
5-112102041-CA-C	c.156del	p.G53Efs*17	Frameshift	3/16	-	2
5-112102041-C-CA	c.156dup	p.G53Rfs*4	Frameshift	3/16	-	2
5-112102043-A-G	c.156A>G	p.Q52=	Synonymous	3/16	-	1
5-112102044-G-A	c.157G>A	p.G53R	Missense	3/16	-	3
5-112102044-G-C	c.157G>C	p.G53R	Missense	3/16	-	2
5-112102044-G-T	c.157G>T	p.G53*	Nonsense	3/16	-	1
5-112102043-AG-A	c.158del	p.G53Efs*17	Frameshift	3/16	-	2
5-112102045-G-A	c.158G>A	p.G53E	Missense	3/16	-	1
5-112102045-G-T	c.158G>T	p.G53V	Missense	3/16	-	2
5-112102046-A-C	c.159A>C	p.G53=	Synonymous	3/16	-	1
5-112102046-A-G	c.159A>G	p.G53=	Synonymous	3/16	-	1
5-112102046-A-T	c.159A>T	p.G53=	Synonymous	3/16	-	1
5-112102047-AG-GA	c.160_161delinsGA	p.S54D	Missense	3/16	-	1
5-112102047-AG-GC	c.160_161delinsGC	p.S54A	Missense	3/16	-	1
5-112102047-A-T	c.160A>T	p.S54C	Missense	3/16	-	1
5-112102048-G-C	c.161G>C	p.S54T	Missense	3/16	-	1
5-112102049-T-C	c.162T>C	p.S54=	Synonymous	3/16	-	2
5-112102050-A-AG	c.163_164insG	p.I55Sfs*2	Frameshift	3/16	-	1
5-112102050-A-G	c.163A>G	p.I55V	Missense	3/16	-	2
5-112102050-AT-TG	c.163_164delinsTG	p.I55C	Missense	3/16	-	1
5-112102051-T-C	c.164T>C	p.I55T	Missense	3/16	-	1
5-112102053-G-A	c.166G>A	p.E56K	Missense	3/16	-	3
5-112102053-G-C	c.166G>C	p.E56Q	Missense	3/16	-	1
5-112102053-G-T	c.166G>T	p.E56*	Nonsense	3/16	-	2
5-112102054-A-C	c.167A>C	p.E56A	Missense	3/16	-	2
5-112102054-A-G	c.167A>G	p.E56G	Missense	3/16	-	1
5-112102055-A-C	c.168A>C	p.E56D	Missense	3/16	-	1
5-112102056-G-A	c.169G>A	p.D57N	Missense	3/16	-	3
5-112102056-GA-TG	c.169_170delinsTG	p.D57C	Missense	3/16	-	1
5-112102051-TTGAAGA-T	c.170_175del	p.D57_E58del	InFrameDeletion	3/16	-	1
5-112102056-G-GAGC	c.170_171insGCA	p.D57delinsEH	MultiAAMissense	3/16	-	1
5-112102056-G-GAGCAGC	c.170_171insGCAGCA	p.D57delinsEQH	MultiAAMissense	3/16	-	2
5-112102057-A-G	c.170A>G	p.D57G	Missense	3/16	-	2
5-112102057-A-T	c.170A>T	p.D57V	Missense	3/16	-	3
5-112102055-AGAT-A	c.171_173del	p.D57del	InFrameDeletion	3/16	-	1
5-112102058-ATGAAGCTAT-A	c.171_179del	p.D57_M60delinsE	MultiAAMissense	3/16	-	1
5-112102058-T-A	c.171T>A	p.D57E	Missense	3/16	-	1
5-112102058-T-G	c.171T>G	p.D57E	Missense	3/16	-	1
5-112102057-ATGAAGC-A	c.172_177del	p.E58_A59del	InFrameDeletion	3/16	-	2
5-112102057-ATGAAGCTATGGC-A	c.172_183del	p.E58_A61del	InFrameDeletion	3/16	-	2
5-112102057-ATGAAGCTATGGCTTC-A	c.172_186del	p.E58_S62del	InFrameDeletion	3/16	-	1
5-112102059-G-A	c.172G>A	p.E58K	Missense	3/16	-	4
5-112102060-A-C	c.173A>C	p.E58A	Missense	3/16	-	1
5-112102060-A-T	c.173A>T	p.E58V	Missense	3/16	-	2
5-112102061-AAGCTAT-A	c.174_179del	p.M60_A61del	InFrameDeletion	3/16	-	1
5-112102061-A-C	c.174A>C	p.E58D	Missense	3/16	-	1
5-112102061-A-T	c.174A>T	p.E58D	Missense	3/16	-	1
5-112102060-AAGCT-A	c.175_178del	p.A59Wfs*10	Frameshift	3/16	-	2
5-112102062-G-A	c.175G>A	p.A59T	Missense	3/16	-	3
5-112102062-G-C	c.175G>C	p.A59P	Missense	3/16	-	1
5-112102062-GC-TA	c.175_176delinsTA	p.A59Y	Missense	3/16	-	1
5-112102062-GC-TT	c.175_176delinsTT	p.A59F	Missense	3/16	-	3
5-112102062-GCT-TAA	c.175_177delinsTAA	p.A59*	Nonsense	3/16	-	2
5-112102062-G-T	c.175G>T	p.A59S	Missense	3/16	-	3
5-112102063-C-A	c.176C>A	p.A59D	Missense	3/16	-	2
5-112102063-C-G	c.176C>G	p.A59G	Missense	3/16	-	3
5-112102063-C-T	c.176C>T	p.A59V	Missense	3/16	-	5
5-112102063-CT-AG	c.176_177inv	p.A59E	Missense	3/16	-	3
5-112102064-T-A	c.177T>A	p.A59=	Synonymous	3/16	-	2
5-112102064-T-C	c.177T>C	p.A59=	Synonymous	3/16	-	2
5-112102064-T-G	c.177T>G	p.A59=	Synonymous	3/16	-	2
5-112102065-A-T	c.178A>T	p.M60L	Missense	3/16	-	1
5-112102065-AT-GC	c.178_179delinsGC	p.M60A	Missense	3/16	-	1
5-112102066-AT-A	c.179del	p.M60Rfs*10	Frameshift	3/16	-	2
5-112102066-T-A	c.179T>A	p.M60K	Missense	3/16	-	1
5-112102067-G-A	c.180G>A	p.M60I	Missense	3/16	-	1
5-112102067-G-C	c.180G>C	p.M60I	Missense	3/16	-	1
5-112102067-G-T	c.180G>T	p.M60I	Missense	3/16	-	1
5-112102068-G-A	c.181G>A	p.A61T	Missense	3/16	-	3
5-112102068-GC-CA	c.181_182delinsCA	p.A61H	Missense	3/16	-	1
5-112102068-GC-CT	c.181_182delinsCT	p.A61L	Missense	3/16	-	1
5-112102068-GC-TG	c.181_182delinsTG	p.A61C	Missense	3/16	-	2
5-112102068-GC-TT	c.181_182delinsTT	p.A61F	Missense	3/16	-	2
5-112102068-GCT-TGG	c.181_183delinsTGG	p.A61W	Missense	3/16	-	1
5-112102068-G-T	c.181G>T	p.A61S	Missense	3/16	-	1
5-112102069-C-A	c.182C>A	p.A61D	Missense	3/16	-	7
5-112102069-C-CA	c.182_183insA	p.S62Ffs*6	Frameshift	3/16	-	1
5-112102069-C-G	c.182C>G	p.A61G	Missense	3/16	-	5
5-112102069-C-T	c.182C>T	p.A61V	Missense	3/16	-	3
5-112102069-CT-AG	c.182_183inv	p.A61E	Missense	3/16	-	3
5-112102069-GCTTCTTCTGGACAGATTGATTT-G	c.182_203del	p.A61Dfs*2	Frameshift	3/16	-	1
5-112102070-T-A	c.183T>A	p.A61=	Synonymous	3/16	-	2
5-112102070-T-C	c.183T>C	p.A61=	Synonymous	3/16	-	4
5-112102070-T-G	c.183T>G	p.A61=	Synonymous	3/16	-	3
5-112102071-TC-AA	c.184_185delinsAA	p.S62N	Missense	3/16	-	2
5-112102071-TC-GA	c.184_185inv	p.S62D	Missense	3/16	-	2
5-112102071-T-G	c.184T>G	p.S62A	Missense	3/16	-	8
5-112102072-C-T	c.185C>T	p.S62F	Missense	3/16	-	5
5-112102072-C-CT	c.187dup	p.S63Ffs*5	Frameshift	3/16	-	1
5-112102072-CT-C	c.187del	p.S63Lfs*7	Frameshift	3/16	-	1
5-112102074-T-A	c.187T>A	p.S63T	Missense	3/16	-	1
5-112102074-T-C	c.187T>C	p.S63P	Missense	3/16	-	2
5-112102074-TC-AT	c.187_188delinsAT	p.S63I	Missense	3/16	-	1
5-112102074-TC-CG	c.187_188delinsCG	p.S63R	Missense	3/16	-	3
5-112102074-TC-CT	c.187_188delinsCT	p.S63L	Missense	3/16	-	1
5-112102074-TC-GG	c.187_188delinsGG	p.S63G	Missense	3/16	-	1
5-112102074-TCT-AAG	c.187_189delinsAAG	p.S63K	Missense	3/16	-	2
5-112102074-T-G	c.187T>G	p.S63A	Missense	3/16	-	2
5-112102075-C-A	c.188C>A	p.S63Y	Missense	3/16	-	1
5-112102075-C-G	c.188C>G	p.S63C	Missense	3/16	-	1
5-112102075-CT-AA	c.188_189delinsAA	p.S63*	Nonsense	3/16	-	1
5-112102076-T-A	c.189T>A	p.S63=	Synonymous	3/16	-	1
5-112102076-T-C	c.189T>C	p.S63=	Synonymous	3/16	-	1
5-112102076-T-G	c.189T>G	p.S63=	Synonymous	3/16	-	1
5-112102077-G-A	c.190G>A	p.G64R	Missense	3/16	-	4
5-112102077-G-C	c.190G>C	p.G64R	Missense	3/16	-	2
5-112102077-GGA-AGC	c.190_192delinsAGC	p.G64S	Missense	3/16	-	1
5-112102077-GG-CT	c.190_191delinsCT	p.G64L	Missense	3/16	-	1
5-112102077-G-T	c.190G>T	p.G64*	Nonsense	3/16	-	3
5-112102078-G-A	c.191G>A	p.G64E	Missense	3/16	-	3
5-112102078-G-C	c.191G>C	p.G64A	Missense	3/16	-	1
5-112102078-G-T	c.191G>T	p.G64V	Missense	3/16	-	3
5-112102080-C-A	c.193C>A	p.Q65K	Missense	3/16	-	1
5-112102080-CA-GC	c.193_194delinsGC	p.Q65A	Missense	3/16	-	1
5-112102080-CAG-GAC	c.193_195delinsGAC	p.Q65D	Missense	3/16	-	1
5-112102080-C-G	c.193C>G	p.Q65E	Missense	3/16	-	2
5-112102080-C-T	c.193C>T	p.Q65*	Nonsense	3/16	-	3
5-112102081-A-G	c.194A>G	p.Q65R	Missense	3/16	-	1
5-112102081-A-T	c.194A>T	p.Q65L	Missense	3/16	-	1
5-112102081-CAGATTGATTTA-C	c.194_204del	p.Q65Lfs*5	Frameshift	3/16	-	1
5-112102082-G-T	c.195G>T	p.Q65H	Missense	3/16	-	1
5-112102083-A-C	c.196A>C	p.I66L	Missense	3/16	-	1
5-112102083-A-G	c.196A>G	p.I66V	Missense	3/16	-	1
5-112102084-T-A	c.197T>A	p.I66N	Missense	3/16	-	1
5-112102084-T-C	c.197T>C	p.I66T	Missense	3/16	-	2
5-112102083-A-AT	c.198dup	p.D67*	Nonsense	3/16	-	1
5-112102084-TTGA-T	c.199_201del	p.D67del	InFrameDeletion	3/16	-	1
5-112102086-G-A	c.199G>A	p.D67N	Missense	3/16	-	5
5-112102086-GA-CG	c.199_200delinsCG	p.D67R	Missense	3/16	-	1
5-112102086-GA-TT	c.199_200delinsTT	p.D67F	Missense	3/16	-	1
5-112102086-GAT-TAA	c.199_201delinsTAA	p.D67*	Nonsense	3/16	-	1
5-112102086-G-C	c.199G>C	p.D67H	Missense	3/16	-	1
5-112102086-G-T	c.199G>T	p.D67Y	Missense	3/16	-	5
5-112102086-TGATTTATTAGAGCGTCTTAAAGGTAGATTTTAAAAAGGTGTTTTAAAATAATTTTTTAA-T	c.200_220+38del	-	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	3/16	3/15	1
5-112102087-A-C	c.200A>C	p.D67A	Missense	3/16	-	1
5-112102087-A-G	c.200A>G	p.D67G	Missense	3/16	-	3
5-112102087-A-T	c.200A>T	p.D67V	Missense	3/16	-	2
5-112102087-GA-G	c.200del	p.D67Vfs*3	Frameshift	3/16	-	1
5-112102088-T-A	c.201T>A	p.D67E	Missense	3/16	-	1
5-112102088-T-C	c.201T>C	p.D67=	Synonymous	3/16	-	2
5-112102088-T-G	c.201T>G	p.D67E	Missense	3/16	-	1
5-112102089-T-A	c.202T>A	p.L68I	Missense	3/16	-	1
5-112102089-T-G	c.202T>G	p.L68V	Missense	3/16	-	4
5-112102089-TT-CA	c.202_203delinsCA	p.L68Q	Missense	3/16	-	1
5-112102089-TT-CC	c.202_203delinsCC	p.L68P	Missense	3/16	-	2
5-112102087-AT-A	c.203del	p.L68Yfs*2	Frameshift	3/16	-	2
5-112102090-T-G	c.203T>G	p.L68*	Nonsense	3/16	-	1
5-112102091-TA-T	c.204del	p.L68Ffs*2	Frameshift	3/16	-	1
5-112102092-TT-GC	c.205_206delinsGC	p.L69A	Missense	3/16	-	1
5-112102091-AT-A	c.206del	p.L69*	Frameshift	3/16	-	1
5-112102093-T-A	c.206T>A	p.L69*	Nonsense	3/16	-	2
5-112102093-T-G	c.206T>G	p.L69*	Nonsense	3/16	-	1
5-112102094-A-C	c.207A>C	p.L69F	Missense	3/16	-	1
5-112102094-A-T	c.207A>T	p.L69F	Missense	3/16	-	1
5-112102095-G-A	c.208G>A	p.E70K	Missense	3/16	-	4
5-112102095-GA-AG	c.208_209delinsAG	p.E70R	Missense	3/16	-	1
5-112102095-GAG-TGT	c.208_210delinsTGT	p.E70C	Missense	3/16	-	1
5-112102095-GAG-TTT	c.208_210delinsTTT	p.E70F	Missense	3/16	-	1
5-112102095-G-T	c.208G>T	p.E70*	Nonsense	3/16	-	1
5-112102096-A-C	c.209A>C	p.E70A	Missense	3/16	-	3
5-112102096-A-G	c.209A>G	p.E70G	Missense	3/16	-	1
5-112102097-G-A	c.210G>A	p.E70=	Synonymous	3/16	-	1
5-112102097-G-C	c.210G>C	p.E70D	Missense	3/16	-	1
5-112102097-G-T	c.210G>T	p.E70D	Missense	3/16	-	1
5-112102098-C-G	c.211C>G	p.R71G	Missense	3/16	-	3
5-112102098-CG-GC	c.211_212delinsGC	p.R71A	Missense	3/16	-	1
5-112102098-CG-TA	c.211_212delinsTA	p.R71Y	Missense	3/16	-	1
5-112102098-CGT-AAG	c.211_213delinsAAG	p.R71K	Missense	3/16	-	1
5-112102098-CGT-TGG	c.211_213delinsTGG	p.R71W	Missense	3/16	-	1
5-112102098-C-T	c.211C>T	p.R71C	Missense	3/16	-	5
5-112102098-GC-G	c.211del	p.R71Vfs*7	Frameshift	3/16	-	1
5-112102099-CG-C	c.212del	p.R71Lfs*7	Frameshift	3/16	-	1
5-112102099-G-A	c.212G>A	p.R71H	Missense	3/16	-	5
5-112102099-G-T	c.212G>T	p.R71L	Missense	3/16	-	1
5-112102099-GT-AA	c.212_213delinsAA	p.R71Q	Missense	3/16	-	1
5-112102100-T-C	c.213T>C	p.R71=	Synonymous	3/16	-	1
5-112102101-C-G	c.214C>G	p.L72V	Missense	3/16	-	1
5-112102101-C-T	c.214C>T	p.L72F	Missense	3/16	-	1
5-112102101-CT-GG	c.214_215delinsGG	p.L72G	Missense	3/16	-	2
5-112102102-T-A	c.215T>A	p.L72H	Missense	3/16	-	1
5-112102102-T-G	c.215T>G	p.L72R	Missense	3/16	-	1
5-112102102-TT-AA	c.215_216inv	p.L72Q	Missense	3/16	-	1
5-112102104-A-T	c.217A>T	p.K73*	Nonsense	3/16	-	1
5-112102105-A-ATT	c.218_219insTT	p.K73Nfs*2	SpliceDonorInsertion	3/16	-	1
5-112102105-A-C	c.218A>C	p.K73T	Missense	3/16	-	1
5-112102105-A-G	c.218A>G	p.K73R	Missense	3/16	-	3
5-112102106-A-C	c.219A>C	p.K73N	Missense	3/16	-	1
5-112102106-A-T	c.219A>T	p.K73N	Missense	3/16	-	1
5-112102107-G-A	c.220G>A	p.E74K	Missense	3/16	-	3
5-112102107-G-T	c.220G>T	p.E74*	Nonsense	3/16	-	5
5-112102108-G-A	c.220+1G>A	-	IntronicSNV	-	3/15	1
5-112102109-T-A	c.220+2T>A	-	IntronicSNV	-	3/15	4
5-112102111-G-A	c.220+4G>A	-	IntronicSNV	-	3/15	1
5-112102123-G-T	c.220+16G>T	-	IntronicSNV	-	3/15	1
5-112102142-T-A	c.220+35T>A	-	IntronicSNV	-	3/15	1
5-112102147-T-C	c.220+40T>C	-	IntronicSNV	-	3/15	1
5-112102157-A-C	c.220+50A>C	-	IntronicSNV	-	3/15	1
5-112102164-G-T	c.220+57G>T	-	IntronicSNV	-	3/15	1
5-112102202-G-A	c.220+95G>A	-	IntronicSNV	-	3/15	1
5-112102857-G-A	c.221-29G>A	-	IntronicSNV	-	3/15	1
5-112102857-G-C	c.221-29G>C	-	IntronicSNV	-	3/15	1
5-112102859-A-C	c.221-27A>C	-	IntronicSNV	-	3/15	1
5-112102859-A-G	c.221-27A>G	-	IntronicSNV	-	3/15	1
5-112102886-A-C	c.221A>C	p.E74A	Missense	4/16	-	3
5-112102886-A-G	c.221A>G	p.E74G	Missense	4/16	-	2
5-112102886-GA-G	c.221del	p.E74Gfs*4	Frameshift	4/16	-	1
5-112102887-G-C	c.222G>C	p.E74D	Missense	4/16	-	2
5-112102887-G-T	c.222G>T	p.E74D	Missense	4/16	-	2
5-112102888-C-A	c.223C>A	p.L75I	Missense	4/16	-	2
5-112102888-C-G	c.223C>G	p.L75V	Missense	4/16	-	2
5-112102888-C-T	c.223C>T	p.L75F	Missense	4/16	-	1
5-112102888-CTT-TAA	c.223_225delinsTAA	p.L75*	Nonsense	4/16	-	1
5-112102889-T-G	c.224T>G	p.L75R	Missense	4/16	-	2
5-112102888-CT-C	c.225del	p.N76Tfs*2	Frameshift	4/16	-	1
5-112102891-A-C	c.226A>C	p.N76H	Missense	4/16	-	1
5-112102890-TAACTTAG-T	c.227_233del	p.N76Ifs*8	Frameshift	4/16	-	1
5-112102890-T-TA	c.227dup	p.N76Kfs*4	Frameshift	4/16	-	1
5-112102892-A-C	c.227A>C	p.N76T	Missense	4/16	-	1
5-112102893-ACTT-A	c.228_230del	p.N76_L77delinsK	UnclassifiedDeletion	4/16	-	1
5-112102893-ACTTAGATAGCAG-A	c.228_239del	p.L77_S80del	InFrameDeletion	4/16	-	1
5-112102893-C-CT	c.230dup	p.L77Ffs*3	Frameshift	4/16	-	1
5-112102895-T-G	c.230T>G	p.L77*	Nonsense	4/16	-	1
5-112102896-A-G	c.231A>G	p.L77=	Synonymous	4/16	-	1
5-112102896-TA-T	c.231del	p.D78Ifs*8	Frameshift	4/16	-	1
5-112102897-G-A	c.232G>A	p.D78N	Missense	4/16	-	2
5-112102897-GA-TT	c.232_233delinsTT	p.D78F	Missense	4/16	-	2
5-112102897-G-C	c.232G>C	p.D78H	Missense	4/16	-	1
5-112102894-TTAGA-T	c.233_236del	p.D78Afs*7	Frameshift	4/16	-	2
5-112102898-A-C	c.233A>C	p.D78A	Missense	4/16	-	2
5-112102898-A-AT	c.234dup	p.S79*	Nonsense	4/16	-	1
5-112102900-A-G	c.235A>G	p.S79G	Missense	4/16	-	3
5-112102900-AG-GC	c.235_236delinsGC	p.S79A	Missense	4/16	-	4
5-112102900-A-T	c.235A>T	p.S79C	Missense	4/16	-	1
5-112102898-ATAGCAG-A	c.236_241del	p.S79_S80del	InFrameDeletion	4/16	-	1
5-112102901-G-C	c.236G>C	p.S79T	Missense	4/16	-	1
5-112102902-C-A	c.237C>A	p.S79R	Missense	4/16	-	1
5-112102903-A-G	c.238A>G	p.S80G	Missense	4/16	-	1
5-112102903-AG-CC	c.238_239delinsCC	p.S80P	Missense	4/16	-	1
5-112102903-A-T	c.238A>T	p.S80C	Missense	4/16	-	1
5-112102904-AGT-A	c.239_240del	p.S80Kfs*58	Frameshift	4/16	-	1
5-112102904-G-C	c.239G>C	p.S80T	Missense	4/16	-	2
5-112102906-AA-GC	c.241_242delinsGC	p.N81A	Missense	4/16	-	1
5-112102906-A-C	c.241A>C	p.N81H	Missense	4/16	-	1
5-112102906-A-G	c.241A>G	p.N81D	Missense	4/16	-	1
5-112102908-T-C	c.243T>C	p.N81=	Synonymous	4/16	-	1
5-112102909-TT-CA	c.244_245delinsCA	p.F82H	Missense	4/16	-	1
5-112102909-TT-GC	c.244_245delinsGC	p.F82A	Missense	4/16	-	2
5-112102912-C-A	c.247C>A	p.P83T	Missense	4/16	-	1
5-112102912-C-T	c.247C>T	p.P83S	Missense	4/16	-	4
5-112102910-T-TC	c.248dup	p.G84Wfs*55	Frameshift	4/16	-	1
5-112102913-C-A	c.248C>A	p.P83H	Missense	4/16	-	2
5-112102913-C-T	c.248C>T	p.P83L	Missense	4/16	-	3
5-112102914-CT-C	c.249del	p.G84Efs*2	Frameshift	4/16	-	1
5-112102915-G-A	c.250G>A	p.G84R	Missense	4/16	-	2
5-112102915-G-C	c.250G>C	p.G84R	Missense	4/16	-	1
5-112102915-GGA-TGT	c.250_252delinsTGT	p.G84C	Missense	4/16	-	1
5-112102915-G-T	c.250G>T	p.G84*	Nonsense	4/16	-	1
5-112102916-G-A	c.251G>A	p.G84E	Missense	4/16	-	7
5-112102916-GA-AC	c.251_252delinsAC	p.G84D	Missense	4/16	-	1
5-112102916-G-T	c.251G>T	p.G84V	Missense	4/16	-	2
5-112102918-G-A	c.253G>A	p.V85I	Missense	4/16	-	2
5-112102918-G-C	c.253G>C	p.V85L	Missense	4/16	-	1
5-112102918-G-T	c.253G>T	p.V85L	Missense	4/16	-	1
5-112102919-TA-AC	c.254_255delinsAC	p.V85D	Missense	4/16	-	1
5-112102919-T-G	c.254T>G	p.V85G	Missense	4/16	-	1
5-112102918-GTAAAAC-G	c.255_260del	p.K86_L87del	InFrameDeletion	4/16	-	1
5-112102920-A-C	c.255A>C	p.V85=	Synonymous	4/16	-	1
5-112102920-A-G	c.255A>G	p.V85=	Synonymous	4/16	-	2
5-112102920-A-T	c.255A>T	p.V85=	Synonymous	4/16	-	1
5-112102921-AA-GC	c.256_257delinsGC	p.K86A	Missense	4/16	-	1
5-112102921-A-T	c.256A>T	p.K86*	Nonsense	4/16	-	1
5-112102919-TAA-T	c.257_258del	p.K86Tfs*52	Frameshift	4/16	-	1
5-112102922-A-C	c.257A>C	p.K86T	Missense	4/16	-	1
5-112102922-A-G	c.257A>G	p.K86R	Missense	4/16	-	2
5-112102922-A-T	c.257A>T	p.K86I	Missense	4/16	-	1
5-112102919-TA-T	c.258del	p.K86Nfs*39	Frameshift	4/16	-	1
5-112102919-T-TA	c.258dup	p.L87Tfs*52	Frameshift	4/16	-	1
5-112102924-C-A	c.259C>A	p.L87M	Missense	4/16	-	1
5-112102924-C-G	c.259C>G	p.L87V	Missense	4/16	-	1
5-112102924-C-T	c.259C>T	p.L87=	Synonymous	4/16	-	1
5-112102924-CTG-ATC	c.259_261delinsATC	p.L87I	Missense	4/16	-	1
5-112102924-CTG-TTT	c.259_261delinsTTT	p.L87F	Missense	4/16	-	2
5-112102925-T-C	c.260T>C	p.L87P	Missense	4/16	-	1
5-112102927-CG-AA	c.262_263delinsAA	p.R88K	Missense	4/16	-	3
5-112102927-CG-GC	c.262_263delinsGC	p.R88A	Missense	4/16	-	1
5-112102927-C-T	c.262C>T	p.R88W	Missense	4/16	-	10
5-112102928-G-A	c.263G>A	p.R88Q	Missense	4/16	-	10
5-112102928-G-C	c.263G>C	p.R88P	Missense	4/16	-	2
5-112102928-G-T	c.263G>T	p.R88L	Missense	4/16	-	4
5-112102930-TC-AG	c.265_266delinsAG	p.S89R	Missense	4/16	-	1
5-112102930-TC-GG	c.265_266delinsGG	p.S89G	Missense	4/16	-	2
5-112102930-T-G	c.265T>G	p.S89A	Missense	4/16	-	3
5-112102931-C-A	c.266C>A	p.S89*	Nonsense	4/16	-	6
5-112102931-C-G	c.266C>G	p.S89*	Nonsense	4/16	-	5
5-112102931-C-T	c.266C>T	p.S89L	Missense	4/16	-	1
5-112102933-AA-GC	c.268_269delinsGC	p.K90A	Missense	4/16	-	1
5-112102934-A-G	c.269A>G	p.K90R	Missense	4/16	-	2
5-112102931-CAA-C	c.270_271del	p.K90Nfs*48	Frameshift	4/16	-	1
5-112102935-A-C	c.270A>C	p.K90N	Missense	4/16	-	1
5-112102935-A-G	c.270A>G	p.K90=	Synonymous	4/16	-	3
5-112102935-A-T	c.270A>T	p.K90N	Missense	4/16	-	1
5-112102931-CA-C	c.271del	p.M91Cfs*34	Frameshift	4/16	-	1
5-112102931-C-CA	c.271dup	p.M91Nfs*48	Frameshift	4/16	-	1
5-112102937-T-C	c.272T>C	p.M91T	Missense	4/16	-	1
5-112102937-T-G	c.272T>G	p.M91R	Missense	4/16	-	1
5-112102938-G-A	c.273G>A	p.M91I	Missense	4/16	-	2
5-112102938-G-C	c.273G>C	p.M91I	Missense	4/16	-	2
5-112102938-G-T	c.273G>T	p.M91I	Missense	4/16	-	3
5-112102939-T-A	c.274T>A	p.S92T	Missense	4/16	-	1
5-112102939-T-C	c.274T>C	p.S92P	Missense	4/16	-	5
5-112102939-TCC-GAG	c.274_276delinsGAG	p.S92E	Missense	4/16	-	1
5-112102940-C-A	c.275C>A	p.S92Y	Missense	4/16	-	2
5-112102940-CC-AA	c.275_276delinsAA	p.S92*	Nonsense	4/16	-	1
5-112102940-C-G	c.275C>G	p.S92C	Missense	4/16	-	3
5-112102940-C-T	c.275C>T	p.S92F	Missense	4/16	-	2
5-112102941-C-A	c.276C>A	p.S92=	Synonymous	4/16	-	1
5-112102941-C-G	c.276C>G	p.S92=	Synonymous	4/16	-	1
5-112102941-C-T	c.276C>T	p.S92=	Synonymous	4/16	-	2
5-112102942-C-G	c.277C>G	p.L93V	Missense	4/16	-	1
5-112102942-C-T	c.277C>T	p.L93F	Missense	4/16	-	1
5-112102942-CTC-ATG	c.277_279delinsATG	p.L93M	Missense	4/16	-	1
5-112102941-CCT-C	c.278_279del	p.L93Pfs*45	Frameshift	4/16	-	1
5-112102945-C-A	c.280C>A	p.R94S	Missense	4/16	-	3
5-112102945-CG-GC	c.280_281delinsGC	p.R94A	Missense	4/16	-	1
5-112102945-CGT-TGG	c.280_282delinsTGG	p.R94W	Missense	4/16	-	2
5-112102945-C-T	c.280C>T	p.R94C	Missense	4/16	-	5
5-112102946-CGT-C	c.281_282del	p.R94Lfs*44	Frameshift	4/16	-	1
5-112102946-G-A	c.281G>A	p.R94H	Missense	4/16	-	7
5-112102946-G-T	c.281G>T	p.R94L	Missense	4/16	-	1
5-112102946-GT-AA	c.281_282delinsAA	p.R94Q	Missense	4/16	-	2
5-112102947-T-A	c.282T>A	p.R94=	Synonymous	4/16	-	1
5-112102947-T-C	c.282T>C	p.R94=	Synonymous	4/16	-	1
5-112102947-T-G	c.282T>G	p.R94=	Synonymous	4/16	-	1
5-112102948-T-A	c.283T>A	p.S95T	Missense	4/16	-	1
5-112102948-T-C	c.283T>C	p.S95P	Missense	4/16	-	2
5-112102948-TC-AA	c.283_284delinsAA	p.S95N	Missense	4/16	-	1
5-112102949-C-T	c.284C>T	p.S95F	Missense	4/16	-	6
5-112102950-T-A	c.285T>A	p.S95=	Synonymous	4/16	-	1
5-112102950-T-C	c.285T>C	p.S95=	Synonymous	4/16	-	1
5-112102950-T-G	c.285T>G	p.S95=	Synonymous	4/16	-	1
5-112102951-TA-GC	c.286_287delinsGC	p.Y96A	Missense	4/16	-	2
5-112102951-TAT-AAG	c.286_288delinsAAG	p.Y96K	Missense	4/16	-	1
5-112102951-T-C	c.286T>C	p.Y96H	Missense	4/16	-	2
5-112102952-A-G	c.287A>G	p.Y96C	Missense	4/16	-	1
5-112102952-A-T	c.287A>T	p.Y96F	Missense	4/16	-	3
5-112102953-T-A	c.288T>A	p.Y96*	Nonsense	4/16	-	4
5-112102953-T-C	c.288T>C	p.Y96=	Synonymous	4/16	-	2
5-112102953-T-G	c.288T>G	p.Y96*	Nonsense	4/16	-	1
5-112102953-T-TCC	c.288_289insCC	p.G97Pfs*29	Frameshift	4/16	-	1
5-112102954-G-A	c.289G>A	p.G97R	Missense	4/16	-	9
5-112102954-G-C	c.289G>C	p.G97R	Missense	4/16	-	4
5-112102954-GGA-AGC	c.289_291delinsAGC	p.G97S	Missense	4/16	-	1
5-112102954-GG-CA	c.289_290delinsCA	p.G97Q	Missense	4/16	-	1
5-112102954-G-T	c.289G>T	p.G97*	Nonsense	4/16	-	1
5-112102955-GA-AC	c.290_291delinsAC	p.G97D	Missense	4/16	-	1
5-112102955-G-C	c.290G>C	p.G97A	Missense	4/16	-	2
5-112102956-A-G	c.291A>G	p.G97=	Synonymous	4/16	-	1
5-112102957-AG-GC	c.292_293delinsGC	p.S98A	Missense	4/16	-	2
5-112102957-AG-TT	c.292_293delinsTT	p.S98F	Missense	4/16	-	1
5-112102958-G-A	c.293G>A	p.S98N	Missense	4/16	-	2
5-112102958-G-T	c.293G>T	p.S98I	Missense	4/16	-	1
5-112102957-A-C	c.292A>C	p.S98R	Missense	4/16	-	2
5-112102959-C-A	c.294C>A	p.S98R	Missense	4/16	-	2
5-112102959-C-G	c.294C>G	p.S98R	Missense	4/16	-	2
5-112102960-C-A	c.295C>A	p.R99=	Synonymous	4/16	-	6
5-112102960-C-G	c.295C>G	p.R99G	Missense	4/16	-	1
5-112102960-CG-GA	c.295_296delinsGA	p.R99E	Missense	4/16	-	1
5-112102960-CGG-AGC	c.295_297delinsAGC	p.R99S	Missense	4/16	-	1
5-112102960-C-T	c.295C>T	p.R99W	Missense	4/16	-	32
5-112102962-G-T	c.297G>T	p.R99=	Synonymous	4/16	-	1
5-112102961-G-A	c.296G>A	p.R99Q	Missense	4/16	-	3
5-112102961-GG-AT	c.296_297delinsAT	p.R99H	Missense	4/16	-	1
5-112102961-G-T	c.296G>T	p.R99L	Missense	4/16	-	1
5-112102962-G-A	c.297G>A	p.R99=	Synonymous	4/16	-	1
5-112102960-CG-C	c.298del	p.E100Kfs*25	Frameshift	4/16	-	2
5-112102963-G-A	c.298G>A	p.E100K	Missense	4/16	-	2
5-112102963-GA-TC	c.298_299inv	p.E100S	Missense	4/16	-	1
5-112102963-G-T	c.298G>T	p.E100*	Nonsense	4/16	-	2
5-112102964-A-C	c.299A>C	p.E100A	Missense	4/16	-	1
5-112102965-A-C	c.300A>C	p.E100D	Missense	4/16	-	1
5-112102965-A-T	c.300A>T	p.E100D	Missense	4/16	-	1
5-112102966-G-A	c.301G>A	p.G101R	Missense	4/16	-	2
5-112102966-G-C	c.301G>C	p.G101R	Missense	4/16	-	2
5-112102966-GGA-TGG	c.301_303delinsTGG	p.G101W	Missense	4/16	-	1
5-112102966-GGA-TGT	c.301_303delinsTGT	p.G101C	Missense	4/16	-	1
5-112102966-G-T	c.301G>T	p.G101*	Nonsense	4/16	-	1
5-112102967-G-A	c.302G>A	p.G101E	Missense	4/16	-	6
5-112102967-GA-AC	c.302_303delinsAC	p.G101D	Missense	4/16	-	1
5-112102967-G-C	c.302G>C	p.G101A	Missense	4/16	-	1
5-112102967-G-T	c.302G>T	p.G101V	Missense	4/16	-	1
5-112102969-T-A	c.304T>A	p.S102T	Missense	4/16	-	2
5-112102969-T-C	c.304T>C	p.S102P	Missense	4/16	-	3
5-112102969-TC-CG	c.304_305delinsCG	p.S102R	Missense	4/16	-	1
5-112102969-TC-GA	c.304_305inv	p.S102D	Missense	4/16	-	2
5-112102969-T-G	c.304T>G	p.S102A	Missense	4/16	-	4
5-112102970-C-A	c.305C>A	p.S102Y	Missense	4/16	-	2
5-112102970-C-G	c.305C>G	p.S102C	Missense	4/16	-	1
5-112102970-C-T	c.305C>T	p.S102F	Missense	4/16	-	2
5-112102970-CT-AA	c.305_306delinsAA	p.S102*	Nonsense	4/16	-	1
5-112102971-T-A	c.306T>A	p.S102=	Synonymous	4/16	-	1
5-112102971-T-C	c.306T>C	p.S102=	Synonymous	4/16	-	1
5-112102971-T-G	c.306T>G	p.S102=	Synonymous	4/16	-	1
5-112102972-G-A	c.307G>A	p.V103I	Missense	4/16	-	4
5-112102972-GTA-ATG	c.307_309delinsATG	p.V103M	Missense	4/16	-	1
5-112102972-GTA-TGT	c.307_309delinsTGT	p.V103C	Missense	4/16	-	1
5-112102973-TA-AC	c.308_309delinsAC	p.V103D	Missense	4/16	-	1
5-112102973-T-C	c.308T>C	p.V103A	Missense	4/16	-	1
5-112102973-T-G	c.308T>G	p.V103G	Missense	4/16	-	1
5-112102973-T-TA	c.309dup	p.S104Ifs*35	Frameshift	4/16	-	1
5-112102974-A-C	c.309A>C	p.V103=	Synonymous	4/16	-	1
5-112102974-A-G	c.309A>G	p.V103=	Synonymous	4/16	-	1
5-112102974-A-T	c.309A>T	p.V103=	Synonymous	4/16	-	1
5-112102974-TA-T	c.309del	p.S104Qfs*21	Frameshift	4/16	-	1
5-112102975-T-C	c.310T>C	p.S104P	Missense	4/16	-	1
5-112102975-TC-GA	c.310_311inv	p.S104E	Missense	4/16	-	1
5-112102975-T-G	c.310T>G	p.S104A	Missense	4/16	-	2
5-112102976-C-A	c.311C>A	p.S104*	Nonsense	4/16	-	4
5-112102976-CA-AT	c.311_312delinsAT	p.S104Y	Missense	4/16	-	1
5-112102976-C-G	c.311C>G	p.S104*	Nonsense	4/16	-	4
5-112102976-C-T	c.311C>T	p.S104L	Missense	4/16	-	3
5-112102977-A-T	c.312A>T	p.S104=	Synonymous	4/16	-	1
5-112102976-C-CA	c.313dup	p.S105Kfs*34	Frameshift	4/16	-	1
5-112102978-A-G	c.313A>G	p.S105G	Missense	4/16	-	3
5-112102978-AG-GC	c.313_314delinsGC	p.S105A	Missense	4/16	-	2
5-112102978-AG-TT	c.313_314delinsTT	p.S105F	Missense	4/16	-	1
5-112102981-C-A	c.316C>A	p.R106S	Missense	4/16	-	1
5-112102981-C-G	c.316C>G	p.R106G	Missense	4/16	-	1
5-112102981-CG-GC	c.316_317delinsGC	p.R106A	Missense	4/16	-	2
5-112102981-CGT-TGA	c.316_318delinsTGA	p.R106*	Nonsense	4/16	-	2
5-112102981-CGT-TGG	c.316_318delinsTGG	p.R106W	Missense	4/16	-	2
5-112102981-C-T	c.316C>T	p.R106C	Missense	4/16	-	4
5-112102982-G-A	c.317G>A	p.R106H	Missense	4/16	-	6
5-112102982-GT-AA	c.317_318delinsAA	p.R106Q	Missense	4/16	-	1
5-112102982-G-GT	c.319dup	p.S107Ffs*32	Frameshift	4/16	-	2
5-112102984-T-C	c.319T>C	p.S107P	Missense	4/16	-	1
5-112102984-TC-GG	c.319_320delinsGG	p.S107G	Missense	4/16	-	1
5-112102985-C-G	c.320C>G	p.S107C	Missense	4/16	-	1
5-112102985-C-T	c.320C>T	p.S107F	Missense	4/16	-	2
5-112102987-G-A	c.322G>A	p.G108R	Missense	4/16	-	4
5-112102987-G-C	c.322G>C	p.G108R	Missense	4/16	-	2
5-112102988-G-C	c.323G>C	p.G108A	Missense	4/16	-	5
5-112102988-G-T	c.323G>T	p.G108V	Missense	4/16	-	1
5-112102989-A-C	c.324A>C	p.G108=	Synonymous	4/16	-	1
5-112102989-A-G	c.324A>G	p.G108=	Synonymous	4/16	-	1
5-112102989-A-T	c.324A>T	p.G108=	Synonymous	4/16	-	1
5-112102990-AGAG-A	c.325_327del	p.E109del	InFrameDeletion	4/16	-	2
5-112102990-G-A	c.325G>A	p.E109K	Missense	4/16	-	5
5-112102990-G-T	c.325G>T	p.E109*	Nonsense	4/16	-	12
5-112102991-A-C	c.326A>C	p.E109A	Missense	4/16	-	1
5-112102991-A-G	c.326A>G	p.E109G	Missense	4/16	-	1
5-112102993-T-A	c.328T>A	p.C110S	Missense	4/16	-	2
5-112102993-T-C	c.328T>C	p.C110R	Missense	4/16	-	4
5-112102993-TG-AC	c.328_329delinsAC	p.C110T	Missense	4/16	-	1
5-112102993-TG-GA	c.328_329delinsGA	p.C110D	Missense	4/16	-	1
5-112102993-TG-GC	c.328_329delinsGC	p.C110A	Missense	4/16	-	5
5-112102994-G-C	c.329G>C	p.C110S	Missense	4/16	-	2
5-112102994-G-A	c.329G>A	p.C110Y	Missense	4/16	-	2
5-112102994-G-T	c.329G>T	p.C110F	Missense	4/16	-	5
5-112102995-C-G	c.330C>G	p.C110W	Missense	4/16	-	1
5-112102995-GC-G	c.330del	p.C110*	Frameshift	4/16	-	1
5-112102996-A-G	c.331A>G	p.S111G	Missense	4/16	-	2
5-112102996-AG-GC	c.331_332delinsGC	p.S111A	Missense	4/16	-	1
5-112102996-AG-TA	c.331_332delinsTA	p.S111Y	Missense	4/16	-	1
5-112102996-A-T	c.331A>T	p.S111C	Missense	4/16	-	1
5-112102997-AG-A	c.332del	p.S111Ifs*14	Frameshift	4/16	-	1
5-112102997-G-A	c.332G>A	p.S111N	Missense	4/16	-	4
5-112102999-C-G	c.334C>G	p.P112A	Missense	4/16	-	3
5-112102999-C-T	c.334C>T	p.P112S	Missense	4/16	-	7
5-112102998-TC-T	c.335del	p.P112Lfs*13	Frameshift	4/16	-	1
5-112103000-C-A	c.335C>A	p.P112H	Missense	4/16	-	1
5-112103000-C-G	c.335C>G	p.P112R	Missense	4/16	-	1
5-112103000-CT-AA	c.335_336delinsAA	p.P112Q	Missense	4/16	-	1
5-112103000-C-CT	c.336dup	p.V113Cfs*26	Frameshift	4/16	-	1
5-112103002-G-A	c.337G>A	p.V113I	Missense	4/16	-	2
5-112103002-G-C	c.337G>C	p.V113L	Missense	4/16	-	3
5-112103002-GTT-ATG	c.337_339delinsATG	p.V113M	Missense	4/16	-	1
5-112103003-T-C	c.338T>C	p.V113A	Missense	4/16	-	1
5-112103003-T-G	c.338T>G	p.V113G	Missense	4/16	-	1
5-112103005-C-A	c.340C>A	p.P114T	Missense	4/16	-	1
5-112103005-CC-TT	c.340_341delinsTT	p.P114F	Missense	4/16	-	1
5-112103005-C-T	c.340C>T	p.P114S	Missense	4/16	-	3
5-112103005-TCCTATGGG-T	c.340_347del	p.P114Ffs*22	Frameshift	4/16	-	1
5-112103004-TC-T	c.341del	p.P114Lfs*11	Frameshift	4/16	-	1
5-112103006-C-T	c.341C>T	p.P114L	Missense	4/16	-	3
5-112103008-A-G	c.343A>G	p.M115V	Missense	4/16	-	5
5-112103009-T-C	c.344T>C	p.M115T	Missense	4/16	-	2
5-112103010-G-T	c.345G>T	p.M115I	Missense	4/16	-	1
5-112103009-TGGGTTCATTTCCAA-T	c.346_359del	p.G116Kfs*18	Frameshift	4/16	-	1
5-112103011-G-C	c.346G>C	p.G116R	Missense	4/16	-	2
5-112103011-G-T	c.346G>T	p.G116C	Missense	4/16	-	1
5-112103012-G-A	c.347G>A	p.G116D	Missense	4/16	-	7
5-112103012-G-T	c.347G>T	p.G116V	Missense	4/16	-	2
5-112103012-GT-AG	c.347_348delinsAG	p.G116E	Missense	4/16	-	1
5-112103013-T-C	c.348T>C	p.G116=	Synonymous	4/16	-	1
5-112103014-TCA-AAC	c.349_351delinsAAC	p.S117N	Missense	4/16	-	1
5-112103015-C-A	c.350C>A	p.S117*	Nonsense	4/16	-	5
5-112103015-C-G	c.350C>G	p.S117*	Nonsense	4/16	-	3
5-112103015-C-T	c.350C>T	p.S117L	Missense	4/16	-	8
5-112103016-A-C	c.351A>C	p.S117=	Synonymous	4/16	-	2
5-112103016-A-T	c.351A>T	p.S117=	Synonymous	4/16	-	2
5-112103017-T-C	c.352T>C	p.F118L	Missense	4/16	-	1
5-112103019-T-A	c.354T>A	p.F118L	Missense	4/16	-	1
5-112103019-T-G	c.354T>G	p.F118L	Missense	4/16	-	1
5-112103020-C-G	c.355C>G	p.P119A	Missense	4/16	-	1
5-112103020-C-T	c.355C>T	p.P119S	Missense	4/16	-	6
5-112103021-C-A	c.356C>A	p.P119Q	Missense	4/16	-	1
5-112103021-C-T	c.356C>T	p.P119L	Missense	4/16	-	5
5-112103023-A-G	c.358A>G	p.R120G	Missense	4/16	-	2
5-112103023-AGA-CAT	c.358_360delinsCAT	p.R120H	Missense	4/16	-	2
5-112103023-AGA-TGG	c.358_360delinsTGG	p.R120W	Missense	4/16	-	1
5-112103023-AGA-TGT	c.358_360delinsTGT	p.R120C	Missense	4/16	-	1
5-112103023-AG-CA	c.358_359delinsCA	p.R120Q	Missense	4/16	-	1
5-112103023-AG-CC	c.358_359delinsCC	p.R120P	Missense	4/16	-	1
5-112103023-AG-CT	c.358_359inv	p.R120L	Missense	4/16	-	2
5-112103023-AG-GC	c.358_359delinsGC	p.R120A	Missense	4/16	-	2
5-112103023-A-T	c.358A>T	p.R120*	Nonsense	4/16	-	4
5-112103024-G-A	c.359G>A	p.R120K	Missense	4/16	-	4
5-112103024-G-T	c.359G>T	p.R120I	Missense	4/16	-	1
5-112103024-GA-G	c.361del	p.R121Efs*4	Frameshift	4/16	-	1
5-112103026-AGA-CAT	c.361_363delinsCAT	p.R121H	Missense	4/16	-	2
5-112103026-AGA-TGG	c.361_363delinsTGG	p.R121W	Missense	4/16	-	1
5-112103026-AGA-TGT	c.361_363delinsTGT	p.R121C	Missense	4/16	-	1
5-112103026-AG-CA	c.361_362delinsCA	p.R121Q	Missense	4/16	-	1
5-112103026-AG-CT	c.361_362inv	p.R121L	Missense	4/16	-	1
5-112103026-A-T	c.361A>T	p.R121*	Nonsense	4/16	-	2
5-112103027-G-A	c.362G>A	p.R121K	Missense	4/16	-	3
5-112103027-G-C	c.362G>C	p.R121T	Missense	4/16	-	2
5-112103028-A-C	c.363A>C	p.R121S	Missense	4/16	-	1
5-112103028-A-T	c.363A>T	p.R121S	Missense	4/16	-	1
5-112103029-G-C	c.364G>C	p.G122R	Missense	4/16	-	1
5-112103029-GGG-AGC	c.364_366delinsAGC	p.G122S	Missense	4/16	-	1
5-112103029-G-T	c.364G>T	p.G122W	Missense	4/16	-	2
5-112103030-G-C	c.365G>C	p.G122A	Missense	4/16	-	1
5-112103030-G-T	c.365G>T	p.G122V	Missense	4/16	-	2
5-112103028-AG-A	c.366del	p.F123Lfs*2	Frameshift	4/16	-	3
5-112103031-G-A	c.366G>A	p.G122=	Synonymous	4/16	-	1
5-112103031-G-C	c.366G>C	p.G122=	Synonymous	4/16	-	1
5-112103031-G-T	c.366G>T	p.G122=	Synonymous	4/16	-	1
5-112103032-T-A	c.367T>A	p.F123I	Missense	4/16	-	1
5-112103032-T-C	c.367T>C	p.F123L	Missense	4/16	-	1
5-112103032-TT-GC	c.367_368delinsGC	p.F123A	Missense	4/16	-	2
5-112103034-T-A	c.369T>A	p.F123L	Missense	4/16	-	1
5-112103034-T-G	c.369T>G	p.F123L	Missense	4/16	-	1
5-112103033-T-C	c.368T>C	p.F123S	Missense	4/16	-	2
5-112103035-G-A	c.370G>A	p.V124I	Missense	4/16	-	1
5-112103035-G-C	c.370G>C	p.V124L	Missense	4/16	-	1
5-112103034-TGTAAATG-T	c.371_377del	p.V124Efs*9	Frameshift	4/16	-	1
5-112103036-T-C	c.371T>C	p.V124A	Missense	4/16	-	2
5-112103038-A-G	c.373A>G	p.N125D	Missense	4/16	-	2
5-112103036-TA-T	c.374del	p.N125Mfs*10	Frameshift	4/16	-	1
5-112103039-A-G	c.374A>G	p.N125S	Missense	4/16	-	6
5-112103039-A-T	c.374A>T	p.N125I	Missense	4/16	-	1
5-112103040-T-A	c.375T>A	p.N125K	Missense	4/16	-	2
5-112103040-T-C	c.375T>C	p.N125=	Synonymous	4/16	-	1
5-112103040-T-G	c.375T>G	p.N125K	Missense	4/16	-	2
5-112103041-G-A	c.376G>A	p.G126R	Missense	4/16	-	3
5-112103041-G-C	c.376G>C	p.G126R	Missense	4/16	-	3
5-112103041-GGA-AGC	c.376_378delinsAGC	p.G126S	Missense	4/16	-	2
5-112103041-G-T	c.376G>T	p.G126*	Nonsense	4/16	-	4
5-112103042-G-A	c.377G>A	p.G126E	Missense	4/16	-	5
5-112103042-GA-AC	c.377_378delinsAC	p.G126D	Missense	4/16	-	1
5-112103042-G-T	c.377G>T	p.G126V	Missense	4/16	-	2
5-112103044-A-G	c.379A>G	p.S127G	Missense	4/16	-	5
5-112103044-AGC-TGA	c.379_381delinsTGA	p.S127*	Nonsense	4/16	-	1
5-112103044-AG-GA	c.379_380delinsGA	p.S127D	Missense	4/16	-	6
5-112103044-AG-GC	c.379_380delinsGC	p.S127A	Missense	4/16	-	18
5-112103045-G-A	c.380G>A	p.S127N	Missense	4/16	-	3
5-112103045-G-C	c.380G>C	p.S127T	Missense	4/16	-	3
5-112103046-C-T	c.381C>T	p.S127=	Synonymous	4/16	-	2
5-112103047-AGA-CAT	c.382_384delinsCAT	p.R128H	Missense	4/16	-	2
5-112103047-AGA-TGT	c.382_384delinsTGT	p.R128C	Missense	4/16	-	1
5-112103047-AG-CA	c.382_383delinsCA	p.R128Q	Missense	4/16	-	2
5-112103047-A-T	c.382A>T	p.R128*	Nonsense	4/16	-	2
5-112103048-G-A	c.383G>A	p.R128K	Missense	4/16	-	1
5-112103047-A-C	c.382A>C	p.R128=	Synonymous	4/16	-	2
5-112103049-A-G	c.384A>G	p.R128=	Synonymous	4/16	-	2
5-112103050-G-A	c.385G>A	p.E129K	Missense	4/16	-	1
5-112103050-G-C	c.385G>C	p.E129Q	Missense	4/16	-	9
5-112103050-G-T	c.385G>T	p.E129*	Nonsense	4/16	-	3
5-112103051-A-AT	c.386_387insT	p.E129Dfs*10	Frameshift	4/16	-	1
5-112103051-A-G	c.386A>G	p.E129G	Missense	4/16	-	3
5-112103051-A-T	c.386A>T	p.E129V	Missense	4/16	-	1
5-112103052-A-AT	c.387_388insT	p.S130*	Nonsense	4/16	-	1
5-112103052-A-C	c.387A>C	p.E129D	Missense	4/16	-	1
5-112103052-A-T	c.387A>T	p.E129D	Missense	4/16	-	1
5-112103050-GA-G	c.388del	p.S130Vfs*5	Frameshift	4/16	-	2
5-112103050-G-GA	c.388dup	p.S130Kfs*9	Frameshift	4/16	-	1
5-112103053-A-G	c.388A>G	p.S130G	Missense	4/16	-	18
5-112103053-AG-CC	c.388_389delinsCC	p.S130P	Missense	4/16	-	1
5-112103053-AG-GC	c.388_389delinsGC	p.S130A	Missense	4/16	-	3
5-112103053-AG-TA	c.388_389delinsTA	p.S130Y	Missense	4/16	-	1
5-112103053-A-T	c.388A>T	p.S130C	Missense	4/16	-	1
5-112103054-G-T	c.389G>T	p.S130I	Missense	4/16	-	1
5-112103053-A-C	c.388A>C	p.S130R	Missense	4/16	-	3
5-112103055-T-A	c.390T>A	p.S130R	Missense	4/16	-	5
5-112103055-T-C	c.390T>C	p.S130=	Synonymous	4/16	-	1
5-112103055-T-G	c.390T>G	p.S130R	Missense	4/16	-	3
5-112103056-A-G	c.391A>G	p.T131A	Missense	4/16	-	5
5-112103056-A-T	c.391A>T	p.T131S	Missense	4/16	-	1
5-112103057-C-G	c.392C>G	p.T131S	Missense	4/16	-	1
5-112103057-C-T	c.392C>T	p.T131I	Missense	4/16	-	2
5-112103059-G-A	c.394G>A	p.G132R	Missense	4/16	-	3
5-112103059-G-C	c.394G>C	p.G132R	Missense	4/16	-	2
5-112103059-GGA-TGG	c.394_396delinsTGG	p.G132W	Missense	4/16	-	1
5-112103060-G-C	c.395G>C	p.G132A	Missense	4/16	-	1
5-112103060-G-T	c.395G>T	p.G132V	Missense	4/16	-	1
5-112103062-T-C	c.397T>C	p.Y133H	Missense	4/16	-	1
5-112103062-T-G	c.397T>G	p.Y133D	Missense	4/16	-	2
5-112103063-A-C	c.398A>C	p.Y133S	Missense	4/16	-	1
5-112103065-T-G	c.400T>G	p.L134V	Missense	4/16	-	1
5-112103063-AT-A	c.401del	p.L134*	Frameshift	4/16	-	2
5-112103066-T-C	c.401T>C	p.L134S	Missense	4/16	-	1
5-112103068-G-T	c.403G>T	p.E135*	Nonsense	4/16	-	2
5-112103070-A-T	c.405A>T	p.E135D	Missense	4/16	-	1
5-112103071-G-A	c.406G>A	p.E136K	Missense	4/16	-	11
5-112103071-GA-TC	c.406_407inv	p.E136S	Missense	4/16	-	1
5-112103071-G-C	c.406G>C	p.E136Q	Missense	4/16	-	1
5-112103071-G-T	c.406G>T	p.E136*	Nonsense	4/16	-	8
5-112103072-A-AC	c.407_408insC	p.E136Dfs*3	Frameshift	4/16	-	1
5-112103073-A-C	c.408A>C	p.E136D	Missense	4/16	-	3
5-112103073-A-G	c.408A>G	p.E136=	Synonymous	4/16	-	2
5-112103073-A-T	c.408A>T	p.E136D	Missense	4/16	-	3
5-112103074-C-T	c.409C>T	p.L137F	Missense	4/16	-	1
5-112103074-CTT-GAG	c.409_411delinsGAG	p.L137E	Missense	4/16	-	1
5-112103076-T-A	c.411T>A	p.L137=	Synonymous	4/16	-	2
5-112103076-T-C	c.411T>C	p.L137=	Synonymous	4/16	-	2
5-112103076-T-G	c.411T>G	p.L137=	Synonymous	4/16	-	2
5-112103077-G-A	c.412G>A	p.E138K	Missense	4/16	-	2
5-112103077-GA-AC	c.412_413delinsAC	p.E138T	Missense	4/16	-	1
5-112103077-G-C	c.412G>C	p.E138Q	Missense	4/16	-	1
5-112103078-A-C	c.413A>C	p.E138A	Missense	4/16	-	1
5-112103078-A-G	c.413A>G	p.E138G	Missense	4/16	-	4
5-112103079-G-A	c.414G>A	p.E138=	Synonymous	4/16	-	1
5-112103079-G-C	c.414G>C	p.E138D	Missense	4/16	-	2
5-112103079-G-GT	c.414_415insT	p.K139*	Nonsense	4/16	-	2
5-112103079-G-T	c.414G>T	p.E138D	Missense	4/16	-	2
5-112103080-A-G	c.415A>G	p.K139E	Missense	4/16	-	2
5-112103077-GAGAA-G	c.416_419del	p.K139Rfs*30	Frameshift	4/16	-	6
5-112103081-A-G	c.416A>G	p.K139R	Missense	4/16	-	1
5-112103082-A-G	c.417A>G	p.K139=	Synonymous	4/16	-	1
5-112103083-G-A	c.418G>A	p.E140K	Missense	4/16	-	1
5-112103083-GAG-ATC	c.418_420delinsATC	p.E140I	Missense	4/16	-	1
5-112103083-G-C	c.418G>C	p.E140Q	Missense	4/16	-	1
5-112103083-G-T	c.418G>T	p.E140*	Nonsense	4/16	-	2
5-112103081-AAGAG-A	c.419_422del	p.E140Gfs*29	SpliceDonorDeletion	4/16	-	2
5-112103084-A-AG	c.420dup	p.R141Efs*7	SpliceDonorInsertion	4/16	-	2
5-112103085-G-A	c.420G>A	p.E140=	Synonymous	4/16	-	1
5-112103085-G-C	c.420G>C	p.E140D	Missense	4/16	-	2
5-112103085-G-GC	c.420_421insC	p.R141Qfs*7	SpliceDonorInsertion	4/16	-	1
5-112103085-G-GT	c.420_421insT	p.R141*	SpliceDonorInsertion	4/16	-	1
5-112103085-G-T	c.420G>T	p.E140D	Missense	4/16	-	1
5-112103085-G-GA	c.421dup	p.R141Kfs*7	SpliceDonorInsertion	4/16	-	1
5-112103086-A-G	c.421A>G	p.R141G	Missense	4/16	-	2
5-112103086-AG-CC	c.421_422delinsCC	p.R141P	Missense	4/16	-	1
5-112103086-AG-CT	c.421_422inv	p.R141L	Missense	4/16	-	2
5-112103086-AG-GC	c.421_422delinsGC	p.R141A	Missense	4/16	-	1
5-112103086-A-T	c.421A>T	p.R141W	Missense	4/16	-	2
5-112103087-G-A	c.422G>A	p.R141K	Missense	4/16	-	4
5-112103087-G-T	c.422G>T	p.R141M	Missense	4/16	-	4
5-112103088-G-A	c.422+1G>A	-	IntronicSNV	-	4/15	1
5-112103088-G-T	c.422+1G>T	-	IntronicSNV	-	4/15	1
5-112103089-T-C	c.422+2T>C	-	IntronicSNV	-	4/15	2
5-112103089-T-G	c.422+2T>G	-	IntronicSNV	-	4/15	1
5-112103090-A-G	c.422+3A>G	-	IntronicSNV	-	4/15	1
5-112103093-T-C	c.422+6T>C	-	IntronicSNV	-	4/15	1
5-112103095-T-A	c.422+8T>A	-	IntronicSNV	-	4/15	1
5-112103101-A-G	c.422+14A>G	-	IntronicSNV	-	4/15	1
5-112103104-T-C	c.422+17T>C	-	IntronicSNV	-	4/15	1
5-112103190-C-A	c.422+103C>A	-	IntronicSNV	-	4/15	1
5-112103680-G-A	c.422+593G>A	-	IntronicSNV	-	4/15	1
5-112103963-C-G	c.422+876C>G	-	IntronicSNV	-	4/15	1
5-112104297-A-G	c.422+1210A>G	-	IntronicSNV	-	4/15	1
5-112104858-A-C	c.422+1771A>C	-	IntronicSNV	-	4/15	1
5-112104869-T-C	c.422+1782T>C	-	IntronicSNV	-	4/15	1
5-112104897-C-T	c.422+1810C>T	-	IntronicSNV	-	4/15	1
5-112104911-C-T	c.422+1824C>T	-	IntronicSNV	-	4/15	1
5-112104936-T-C	c.422+1849T>C	-	IntronicSNV	-	4/15	1
5-112105075-T-C	c.422+1988T>C	-	IntronicSNV	-	4/15	1
5-112107058-G-A	c.422+3971G>A	-	IntronicSNV	-	4/15	2
5-112107058-G-T	c.422+3971G>T	-	IntronicSNV	-	4/15	2
5-112107726-C-T	c.423-3600C>T	-	IntronicSNV	-	4/15	1
5-112108017-G-A	c.423-3309G>A	-	IntronicSNV	-	4/15	1
5-112108865-T-C	c.423-2461T>C	-	IntronicSNV	-	4/15	1
5-112109779-G-C	c.423-1547G>C	-	IntronicSNV	-	4/15	3
5-112110298-C-T	c.423-1028C>T	-	IntronicSNV	-	4/15	1
5-112110821-C-T	c.423-505C>T	-	IntronicSNV	-	4/15	1
5-112111070-G-A	c.423-256G>A	-	IntronicSNV	-	4/15	3
5-112111310-A-T	c.423-16A>T	-	IntronicSNV	-	4/15	2
5-112111323-T-A	c.423-3T>A	-	IntronicSNV	-	4/15	1
5-112111323-T-C	c.423-3T>C	-	IntronicSNV	-	4/15	1
5-112103086-A-C	c.421A>C	p.R141=	Synonymous	4/16	-	1
5-112111324-AG-A	c.423del	p.R141Sfs*29	Frameshift	5/16	-	1
5-112111326-G-A	c.423G>A	p.R141=	Synonymous	5/16	-	1
5-112111326-G-C	c.423G>C	p.R141S	Missense	5/16	-	4
5-112111326-GGTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTC-G	c.423_481del	p.S142Tfs*6	Multi:SpliceAcceptorDeletion,CdsStopDeletion	5/16	-	3
5-112111326-G-T	c.423G>T	p.R141S	Missense	5/16	-	16
5-112111327-T-A	c.424T>A	p.S142T	Missense	5/16	-	9
5-112111327-TC-AA	c.424_425delinsAA	p.S142K	Missense	5/16	-	1
5-112111327-TCA-AAC	c.424_426delinsAAC	p.S142N	Missense	5/16	-	1
5-112111327-T-TA	c.424_425insA	p.S142Yfs*6	SpliceAcceptorInsertion	5/16	-	1
5-112111328-C-A	c.425C>A	p.S142*	Nonsense	5/16	-	3
5-112111328-CA-TT	c.425_426delinsTT	p.S142F	Missense	5/16	-	1
5-112111328-C-T	c.425C>T	p.S142L	Missense	5/16	-	3
5-112111329-CAT-C	c.426_427del	p.L143Afs*4	Frameshift	5/16	-	19
5-112111330-T-A	c.427T>A	p.L143M	Missense	5/16	-	1
5-112111331-T-A	c.428T>A	p.L143*	Nonsense	5/16	-	1
5-112111331-T-C	c.428T>C	p.L143S	Missense	5/16	-	1
5-112111331-T-G	c.428T>G	p.L143W	Missense	5/16	-	1
5-112111331-TG-GT	c.428_429delinsGT	p.L143C	Missense	5/16	-	1
5-112111331-TTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGG-T	c.428_460del	p.L143_E154delins*	MultiAAMissense	5/16	-	1
5-112111332-G-C	c.429G>C	p.L143F	Missense	5/16	-	1
5-112111332-G-T	c.429G>T	p.L143F	Missense	5/16	-	1
5-112111333-C-T	c.430C>T	p.L144F	Missense	5/16	-	3
5-112111334-TT-AA	c.431_432inv	p.L144Q	Missense	5/16	-	1
5-112111335-T-A	c.432T>A	p.L144=	Synonymous	5/16	-	1
5-112111335-T-C	c.432T>C	p.L144=	Synonymous	5/16	-	1
5-112111335-T-G	c.432T>G	p.L144=	Synonymous	5/16	-	1
5-112111336-C-T	c.433C>T	p.L145F	Missense	5/16	-	2
5-112111337-T-C	c.434T>C	p.L145P	Missense	5/16	-	2
5-112111337-T-G	c.434T>G	p.L145R	Missense	5/16	-	1
5-112111337-TT-AA	c.434_435inv	p.L145Q	Missense	5/16	-	1
5-112111336-CT-C	c.435del	p.A146Lfs*24	Frameshift	5/16	-	1
5-112111339-G-A	c.436G>A	p.A146T	Missense	5/16	-	16
5-112111339-G-C	c.436G>C	p.A146P	Missense	5/16	-	2
5-112111339-GC-AA	c.436_437delinsAA	p.A146N	Missense	5/16	-	1
5-112111339-GC-TT	c.436_437delinsTT	p.A146F	Missense	5/16	-	1
5-112111339-GCT-TAA	c.436_438delinsTAA	p.A146*	Nonsense	5/16	-	1
5-112111339-G-T	c.436G>T	p.A146S	Missense	5/16	-	1
5-112111340-C-G	c.437C>G	p.A146G	Missense	5/16	-	1
5-112111340-C-T	c.437C>T	p.A146V	Missense	5/16	-	11
5-112111340-GC-G	c.437del	p.A146Vfs*24	Frameshift	5/16	-	2
5-112111340-C-CT	c.438dup	p.D147*	Nonsense	5/16	-	1
5-112111341-T-A	c.438T>A	p.A146=	Synonymous	5/16	-	2
5-112111341-T-C	c.438T>C	p.A146=	Synonymous	5/16	-	2
5-112111341-T-G	c.438T>G	p.A146=	Synonymous	5/16	-	2
5-112111342-G-C	c.439G>C	p.D147H	Missense	5/16	-	1
5-112111342-G-T	c.439G>T	p.D147Y	Missense	5/16	-	1
5-112111342-TG-T	c.439del	p.D147Ifs*23	Frameshift	5/16	-	1
5-112111343-GAT-G	c.440_441del	p.D147Afs*2	Frameshift	5/16	-	1
5-112111343-A-AT	c.441dup	p.L148Sfs*2	Frameshift	5/16	-	1
5-112111344-T-A	c.441T>A	p.D147E	Missense	5/16	-	2
5-112111344-T-G	c.441T>G	p.D147E	Missense	5/16	-	1
5-112111345-C-A	c.442C>A	p.L148I	Missense	5/16	-	2
5-112111345-C-T	c.442C>T	p.L148F	Missense	5/16	-	2
5-112111345-CT-GC	c.442_443delinsGC	p.L148A	Missense	5/16	-	1
5-112111345-CTT-GAG	c.442_444delinsGAG	p.L148E	Missense	5/16	-	1
5-112111347-T-A	c.444T>A	p.L148=	Synonymous	5/16	-	1
5-112111347-T-C	c.444T>C	p.L148=	Synonymous	5/16	-	1
5-112111347-T-G	c.444T>G	p.L148=	Synonymous	5/16	-	1
5-112111348-G-A	c.445G>A	p.D149N	Missense	5/16	-	1
5-112111348-G-C	c.445G>C	p.D149H	Missense	5/16	-	1
5-112111348-G-T	c.445G>T	p.D149Y	Missense	5/16	-	2
5-112111349-A-C	c.446A>C	p.D149A	Missense	5/16	-	1
5-112111349-A-G	c.446A>G	p.D149G	Missense	5/16	-	7
5-112111349-A-T	c.446A>T	p.D149V	Missense	5/16	-	2
5-112111349-A-AC	c.447dup	p.K150Qfs*18	Frameshift	5/16	-	2
5-112111350-AC-A	c.447del	p.D149Efs*21	Frameshift	5/16	-	1
5-112111350-C-A	c.447C>A	p.D149E	Missense	5/16	-	2
5-112111350-C-CT	c.447_448insT	p.K150*	Nonsense	5/16	-	1
5-112111350-C-G	c.447C>G	p.D149E	Missense	5/16	-	1
5-112111350-C-T	c.447C>T	p.D149=	Synonymous	5/16	-	1
5-112111351-AA-GC	c.448_449delinsGC	p.K150A	Missense	5/16	-	3
5-112111351-A-C	c.448A>C	p.K150Q	Missense	5/16	-	2
5-112111351-A-T	c.448A>T	p.K150*	Nonsense	5/16	-	2
5-112111351-CAAA-C	c.448_450del	p.K150del	InFrameDeletion	5/16	-	7
5-112111352-A-C	c.449A>C	p.K150T	Missense	5/16	-	2
5-112111352-A-G	c.449A>G	p.K150R	Missense	5/16	-	7
5-112111352-A-T	c.449A>T	p.K150I	Missense	5/16	-	2
5-112111350-CAAAG-C	c.450_453del	p.E151Kfs*18	Frameshift	5/16	-	1
5-112111350-CA-C	c.450del	p.E151Kfs*19	Frameshift	5/16	-	1
5-112111353-A-G	c.450A>G	p.K150=	Synonymous	5/16	-	2
5-112111353-A-T	c.450A>T	p.K150N	Missense	5/16	-	1
5-112111354-G-A	c.451G>A	p.E151K	Missense	5/16	-	1
5-112111355-A-C	c.452A>C	p.E151A	Missense	5/16	-	3
5-112111355-A-G	c.452A>G	p.E151G	Missense	5/16	-	1
5-112111354-GA-G	c.453del	p.E152Kfs*18	Frameshift	5/16	-	4
5-112111357-G-A	c.454G>A	p.E152K	Missense	5/16	-	4
5-112111357-GA-TC	c.454_455inv	p.E152S	Missense	5/16	-	2
5-112111354-GAAGAA-G	c.455_459del	p.E152Gfs*14	Frameshift	5/16	-	1
5-112111357-G-GAGAA	c.455_456insGAAA	p.E154Kfs*15	Frameshift	5/16	-	1
5-112111358-A-C	c.455A>C	p.E152A	Missense	5/16	-	1
5-112111359-A-AT	c.456_457insT	p.K153*	Nonsense	5/16	-	1
5-112111359-A-C	c.456A>C	p.E152D	Missense	5/16	-	1
5-112111359-A-T	c.456A>T	p.E152D	Missense	5/16	-	1
5-112111357-GAA-G	c.457_458del	p.K153Gfs*14	Frameshift	5/16	-	1
5-112111360-AA-GG	c.457_458delinsGG	p.K153G	Missense	5/16	-	1
5-112111360-A-G	c.457A>G	p.K153E	Missense	5/16	-	2
5-112111357-GA-G	c.458del	p.K153Rfs*17	Frameshift	5/16	-	3
5-112111361-A-G	c.458A>G	p.K153R	Missense	5/16	-	1
5-112111363-G-A	c.460G>A	p.E154K	Missense	5/16	-	11
5-112111363-GAA-CAT	c.460_462delinsCAT	p.E154H	Missense	5/16	-	1
5-112111363-G-C	c.460G>C	p.E154Q	Missense	5/16	-	3
5-112111363-G-T	c.460G>T	p.E154*	Nonsense	5/16	-	1
5-112111364-A-C	c.461A>C	p.E154A	Missense	5/16	-	1
5-112111364-A-T	c.461A>T	p.E154V	Missense	5/16	-	2
5-112111366-AAA-GAC	c.463_465delinsGAC	p.K155D	Missense	5/16	-	1
5-112111366-AA-GC	c.463_464delinsGC	p.K155A	Missense	5/16	-	2
5-112111366-A-G	c.463A>G	p.K155E	Missense	5/16	-	9
5-112111367-AA-TG	c.464_465delinsTG	p.K155M	Missense	5/16	-	3
5-112111363-GA-G	c.465del	p.D156Tfs*14	Frameshift	5/16	-	1
5-112111363-G-GA	c.465dup	p.D156Rfs*12	Frameshift	5/16	-	2
5-112111368-A-AT	c.465_466insT	p.D156*	Nonsense	5/16	-	1
5-112111368-A-G	c.465A>G	p.K155=	Synonymous	5/16	-	2
5-112111369-G-C	c.466G>C	p.D156H	Missense	5/16	-	1
5-112111369-G-T	c.466G>T	p.D156Y	Missense	5/16	-	1
5-112111370-A-C	c.467A>C	p.D156A	Missense	5/16	-	1
5-112111371-ACTGGT-A	c.468_472del	p.D156Efs*10	Frameshift	5/16	-	1
5-112111371-C-A	c.468C>A	p.D156E	Missense	5/16	-	2
5-112111371-C-G	c.468C>G	p.D156E	Missense	5/16	-	2
5-112111371-C-T	c.468C>T	p.D156=	Synonymous	5/16	-	1
5-112111372-CTG-C	c.469_470del	p.W157Vfs*10	Frameshift	5/16	-	1
5-112111373-G-A	c.470G>A	p.W157*	Nonsense	5/16	-	5
5-112111373-G-T	c.470G>T	p.W157L	Missense	5/16	-	1
5-112111374-G-A	c.471G>A	p.W157*	Nonsense	5/16	-	5
5-112111374-G-C	c.471G>C	p.W157C	Missense	5/16	-	1
5-112111374-GGTATTACGC-G	c.471_479del	p.W157_A160delinsC	MultiAAMissense	5/16	-	1
5-112111374-G-T	c.471G>T	p.W157C	Missense	5/16	-	1
5-112111374-G-GT	c.472dup	p.Y158Lfs*10	Frameshift	5/16	-	1
5-112111375-GT-G	c.472del	p.Y158Ifs*12	Frameshift	5/16	-	2
5-112111375-TA-GC	c.472_473delinsGC	p.Y158A	Missense	5/16	-	1
5-112111375-T-C	c.472T>C	p.Y158H	Missense	5/16	-	4
5-112111376-A-G	c.473A>G	p.Y158C	Missense	5/16	-	2
5-112111376-A-T	c.473A>T	p.Y158F	Missense	5/16	-	1
5-112111377-T-G	c.474T>G	p.Y158*	Nonsense	5/16	-	1
5-112111376-A-AT	c.475dup	p.Y159Lfs*9	Frameshift	5/16	-	1
5-112111378-T-A	c.475T>A	p.Y159N	Missense	5/16	-	1
5-112111378-T-C	c.475T>C	p.Y159H	Missense	5/16	-	1
5-112111377-T-TTAA	c.476_477insATA	p.Y158_Y159ins*	InFrameInsertion	5/16	-	1
5-112111378-T-TA	c.476dup	p.Y159*	Nonsense	5/16	-	2
5-112111379-A-G	c.476A>G	p.Y159C	Missense	5/16	-	2
5-112111379-A-T	c.476A>T	p.Y159F	Missense	5/16	-	1
5-112111379-TAC-T	c.476_477del	p.Y159Cfs*8	Frameshift	5/16	-	1
5-112111380-AC-A	c.477del	p.Y159*	Frameshift	5/16	-	2
5-112111380-C-A	c.477C>A	p.Y159*	Nonsense	5/16	-	4
5-112111380-C-G	c.477C>G	p.Y159*	Nonsense	5/16	-	9
5-112111380-C-T	c.477C>T	p.Y159=	Synonymous	5/16	-	1
5-112111381-G-A	c.478G>A	p.A160T	Missense	5/16	-	5
5-112111382-C-A	c.479C>A	p.A160D	Missense	5/16	-	1
5-112111383-CTCAA-C	c.480_483del	p.Q161Ffs*8	Frameshift	5/16	-	1
5-112111383-T-A	c.480T>A	p.A160=	Synonymous	5/16	-	1
5-112111383-T-C	c.480T>C	p.A160=	Synonymous	5/16	-	1
5-112111383-T-G	c.480T>G	p.A160=	Synonymous	5/16	-	1
5-112111384-C-G	c.481C>G	p.Q161E	Missense	5/16	-	2
5-112111384-C-T	c.481C>T	p.Q161*	Nonsense	5/16	-	10
5-112111385-A-G	c.482A>G	p.Q161R	Missense	5/16	-	3
5-112111387-C-T	c.484C>T	p.L162F	Missense	5/16	-	1
5-112111389-T-C	c.486T>C	p.L162=	Synonymous	5/16	-	1
5-112111390-C-A	c.487C>A	p.Q163K	Missense	5/16	-	1
5-112111390-C-T	c.487C>T	p.Q163*	Nonsense	5/16	-	9
5-112111392-G-C	c.489G>C	p.Q163H	Missense	5/16	-	2
5-112111392-G-T	c.489G>T	p.Q163H	Missense	5/16	-	2
5-112111393-AA-CC	c.490_491delinsCC	p.N164P	Missense	5/16	-	1
5-112111393-A-C	c.490A>C	p.N164H	Missense	5/16	-	1
5-112111392-GA-G	c.491del	p.N164Ifs*6	Frameshift	5/16	-	1
5-112111394-A-T	c.491A>T	p.N164I	Missense	5/16	-	1
5-112111394-AT-GG	c.491_492delinsGG	p.N164R	Missense	5/16	-	1
5-112111395-ATCTC-A	c.492_495del	p.N164Kfs*5	Frameshift	5/16	-	1
5-112111396-C-T	c.493C>T	p.L165F	Missense	5/16	-	2
5-112111396-CTC-ATG	c.493_495delinsATG	p.L165M	Missense	5/16	-	1
5-112111396-CT-GC	c.493_494delinsGC	p.L165A	Missense	5/16	-	2
5-112111397-T-C	c.494T>C	p.L165P	Missense	5/16	-	2
5-112111398-C-G	c.495C>G	p.L165=	Synonymous	5/16	-	2
5-112111398-C-T	c.495C>T	p.L165=	Synonymous	5/16	-	2
5-112111399-A-G	c.496A>G	p.T166A	Missense	5/16	-	3
5-112111399-A-AC	c.497dup	p.K167*	Nonsense	5/16	-	1
5-112111399-A-T	c.496A>T	p.T166S	Missense	5/16	-	1
5-112111400-C-G	c.497C>G	p.T166S	Missense	5/16	-	2
5-112111400-CT-TG	c.497_498delinsTG	p.T166M	Missense	5/16	-	1
5-112111402-A-T	c.499A>T	p.K167*	Nonsense	5/16	-	1
5-112111403-AA-TG	c.500_501delinsTG	p.K167M	Missense	5/16	-	1
5-112111403-A-G	c.500A>G	p.K167R	Missense	5/16	-	2
5-112111401-TA-T	c.502del	p.R168Efs*2	Frameshift	5/16	-	2
5-112111405-AGA-CAT	c.502_504delinsCAT	p.R168H	Missense	5/16	-	5
5-112111405-AGA-TGT	c.502_504delinsTGT	p.R168C	Missense	5/16	-	1
5-112111405-AG-CA	c.502_503delinsCA	p.R168Q	Missense	5/16	-	1
5-112111405-A-T	c.502A>T	p.R168*	Nonsense	5/16	-	8
5-112111406-AG-A	c.503del	p.R168Kfs*2	Frameshift	5/16	-	2
5-112111406-G-A	c.503G>A	p.R168K	Missense	5/16	-	4
5-112111406-G-C	c.503G>C	p.R168T	Missense	5/16	-	4
5-112111406-G-T	c.503G>T	p.R168I	Missense	5/16	-	8
5-112111405-A-C	c.502A>C	p.R168=	Synonymous	5/16	-	1
5-112111407-A-G	c.504A>G	p.R168=	Synonymous	5/16	-	1
5-112111407-GAATAGATAGTC-G	c.504_514del	p.R168Sfs*5	Frameshift	5/16	-	1
5-112111404-AAGAAT-A	c.505_509del	p.I169*	Frameshift	5/16	-	1
5-112111406-G-GA	c.505dup	p.I169Nfs*3	Frameshift	5/16	-	1
5-112111408-AT-TA	c.505_506delinsTA	p.I169*	Nonsense	5/16	-	1
5-112111409-ATAGAT-A	c.506_510del	p.I169Kfs*6	Frameshift	5/16	-	1
5-112111409-T-C	c.506T>C	p.I169T	Missense	5/16	-	1
5-112111409-T-TATA	c.507_508insTAA	p.I169_D170ins*	InFrameInsertion	5/16	-	1
5-112111410-A-AT	c.507_508insT	p.D170*	Nonsense	5/16	-	1
5-112111410-A-G	c.507A>G	p.I169M	Missense	5/16	-	1
5-112111409-TAG-T	c.508_509del	p.D170*	Frameshift	5/16	-	1
5-112111411-G-A	c.508G>A	p.D170N	Missense	5/16	-	1
5-112111407-AATAG-A	c.509_512del	p.D170Vfs*4	Frameshift	5/16	-	8
5-112111412-A-C	c.509A>C	p.D170A	Missense	5/16	-	2
5-112111412-GA-G	c.509del	p.D170Vfs*5	Frameshift	5/16	-	1
5-112111413-T-A	c.510T>A	p.D170E	Missense	5/16	-	1
5-112111413-T-TA	c.511dup	p.S171Kfs*6	Frameshift	5/16	-	3
5-112111414-AG-CT	c.511_512inv	p.S171L	Missense	5/16	-	2
5-112111414-AG-GC	c.511_512delinsGC	p.S171A	Missense	5/16	-	1
5-112111415-G-A	c.512G>A	p.S171N	Missense	5/16	-	3
5-112111415-G-T	c.512G>T	p.S171I	Missense	5/16	-	3
5-112111416-GTCTT-G	c.513_516del	p.P173*	Frameshift	5/16	-	1
5-112111417-C-T	c.514C>T	p.L172F	Missense	5/16	-	2
5-112111418-T-G	c.515T>G	p.L172R	Missense	5/16	-	1
5-112111417-C-CT	c.516dup	p.P173Sfs*4	Frameshift	5/16	-	1
5-112111416-TCTTCCTTTAACTGAAAATGTAAGTAACTTGGCAGTACAACTTATTTGAAACTTTAATAA-T	c.517_531+44del	-	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	5/16	5/15	1
5-112111416-TCTTC-T	c.517_520del	p.P173*	Frameshift	5/16	-	2
5-112111420-C-A	c.517C>A	p.P173T	Missense	5/16	-	2
5-112111420-C-G	c.517C>G	p.P173A	Missense	5/16	-	1
5-112111420-C-T	c.517C>T	p.P173S	Missense	5/16	-	2
5-112111421-C-T	c.518C>T	p.P173L	Missense	5/16	-	4
5-112111423-TT-CC	c.520_521delinsCC	p.L174P	Missense	5/16	-	1
5-112111423-TT-GC	c.520_521delinsGC	p.L174A	Missense	5/16	-	1
5-112111421-C-CT	c.521dup	p.L174Ffs*3	Frameshift	5/16	-	1
5-112111421-CT-C	c.521del	p.L174*	Frameshift	5/16	-	2
5-112111424-T-A	c.521T>A	p.L174*	Nonsense	5/16	-	2
5-112111425-A-C	c.522A>C	p.L174F	Missense	5/16	-	1
5-112111426-A-C	c.523A>C	p.T175P	Missense	5/16	-	1
5-112111426-AC-CA	c.523_524delinsCA	p.T175H	Missense	5/16	-	1
5-112111426-AC-TG	c.523_524delinsTG	p.T175C	Missense	5/16	-	2
5-112111426-A-G	c.523A>G	p.T175A	Missense	5/16	-	3
5-112111423-TTAACTGAAAATG-T	c.524_531+4del	-	SpliceDonorDeletion	5/16	5/15	1
5-112111426-A-T	c.523A>T	p.T175S	Missense	5/16	-	3
5-112111427-AC-A	c.524del	p.T175Mfs*10	Frameshift	5/16	-	1
5-112111427-C-G	c.524C>G	p.T175S	Missense	5/16	-	3
5-112111427-C-T	c.524C>T	p.T175I	Missense	5/16	-	3
5-112111427-CT-TG	c.524_525delinsTG	p.T175M	Missense	5/16	-	1
5-112111428-T-A	c.525T>A	p.T175=	Synonymous	5/16	-	1
5-112111428-T-C	c.525T>C	p.T175=	Synonymous	5/16	-	1
5-112111428-T-G	c.525T>G	p.T175=	Synonymous	5/16	-	1
5-112111429-G-T	c.526G>T	p.E176*	Nonsense	5/16	-	2
5-112111430-A-C	c.527A>C	p.E176A	Missense	5/16	-	2
5-112111431-A-G	c.528A>G	p.E176=	Synonymous	5/16	-	1
5-112111432-AA-GG	c.529_530delinsGG	p.N177G	Missense	5/16	-	1
5-112111432-A-C	c.529A>C	p.N177H	Missense	5/16	-	1
5-112111432-A-T	c.529A>T	p.N177Y	Missense	5/16	-	1
5-112111429-GA-G	c.530del	p.N177Ifs*8	Frameshift	5/16	-	1
5-112111433-A-C	c.530A>C	p.N177T	Missense	5/16	-	1
5-112111433-A-ATATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAG	c.531_531+1insATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGT	p.F178Ifs*19	SpliceDonorInsertion	-	-	1
5-112111434-T-TCAG	c.531_531+1insCAG	p.N177_F178insQ	SpliceDonorInsertion	-	-	1
5-112111435-G-A	c.531+1G>A	-	IntronicSNV	-	5/15	3
5-112111435-G-C	c.531+1G>C	-	IntronicSNV	-	5/15	1
5-112111435-G-T	c.531+1G>T	-	IntronicSNV	-	5/15	2
5-112111435-G-GT	c.531+2dup	-	IntronicInsertion	-	5/15	1
5-112111436-T-A	c.531+2T>A	-	IntronicSNV	-	5/15	3
5-112111436-T-C	c.531+2T>C	-	IntronicSNV	-	5/15	2
5-112111436-T-G	c.531+2T>G	-	IntronicSNV	-	5/15	1
5-112111434-TGTAA-T	c.531+5_531+8del	-	IntronicDeletion	-	5/15	2
5-112111439-G-A	c.531+5G>A	-	IntronicSNV	-	5/15	1
5-112111439-G-C	c.531+5G>C	-	IntronicSNV	-	5/15	4
5-112111440-T-A	c.531+6T>A	-	IntronicSNV	-	5/15	1
5-112111866-G-C	c.531+432G>C	-	IntronicSNV	-	5/15	1
5-112112567-A-T	c.531+1133A>T	-	IntronicSNV	-	5/15	1
5-112112774-C-T	c.531+1340C>T	-	IntronicSNV	-	5/15	1
5-112112951-T-C	c.531+1517T>C	-	IntronicSNV	-	5/15	1
5-112113527-A-T	c.531+2093A>T	-	IntronicSNV	-	5/15	4
5-112113654-T-A	c.531+2220T>A	-	IntronicSNV	-	5/15	1
5-112113735-C-G	c.531+2301C>G	-	IntronicSNV	-	5/15	3
5-112113735-C-T	c.531+2301C>T	-	IntronicSNV	-	5/15	3
5-112113760-T-C	c.531+2326T>C	-	IntronicSNV	-	5/15	2
5-112113772-G-A	c.531+2338G>A	-	IntronicSNV	-	5/15	2
5-112113875-A-G	c.531+2441A>G	-	IntronicSNV	-	5/15	1
5-112113905-G-A	c.531+2471G>A	-	IntronicSNV	-	5/15	1
5-112115642-A-G	c.532-845A>G	-	IntronicSNV	-	5/15	1
5-112116024-C-T	c.532-463C>T	-	IntronicSNV	-	5/15	1
5-112116069-G-A	c.532-418G>A	-	IntronicSNV	-	5/15	1
5-112116069-G-C	c.532-418G>C	-	IntronicSNV	-	5/15	1
5-112116479-G-A	c.532-8G>A	-	IntronicSNV	-	5/15	1
5-112116485-A-G	c.532-2A>G	-	IntronicSNV	-	5/15	1
5-112116485-A-T	c.532-2A>T	-	IntronicSNV	-	5/15	1
5-112116487-T-A	c.532T>A	p.F178I	Missense	6/16	-	1
5-112116487-T-G	c.532T>G	p.F178V	Missense	6/16	-	2
5-112116488-T-G	c.533T>G	p.F178C	Missense	6/16	-	1
5-112116490-T-C	c.535T>C	p.S179P	Missense	6/16	-	2
5-112116491-C-A	c.536C>A	p.S179Y	Missense	6/16	-	1
5-112116491-CC-AA	c.536_537delinsAA	p.S179*	Nonsense	6/16	-	1
5-112116491-C-T	c.536C>T	p.S179F	Missense	6/16	-	2
5-112116490-TC-T	c.537del	p.L180Yfs*5	Frameshift	6/16	-	1
5-112116492-C-T	c.537C>T	p.S179=	Synonymous	6/16	-	1
5-112116493-TT-GC	c.538_539delinsGC	p.L180A	Missense	6/16	-	1
5-112116494-T-A	c.539T>A	p.L180*	Nonsense	6/16	-	3
5-112116494-T-G	c.539T>G	p.L180*	Nonsense	6/16	-	2
5-112116494-T-TA	c.540dup	p.Q181Tfs*12	Frameshift	6/16	-	2
5-112116495-A-C	c.540A>C	p.L180F	Missense	6/16	-	2
5-112116495-A-T	c.540A>T	p.L180F	Missense	6/16	-	3
5-112116496-CA-GC	c.541_542delinsGC	p.Q181A	Missense	6/16	-	1
5-112116496-C-G	c.541C>G	p.Q181E	Missense	6/16	-	1
5-112116496-C-T	c.541C>T	p.Q181*	Nonsense	6/16	-	3
5-112116494-TACAA-T	c.543_546del	p.T182Ifs*2	Frameshift	6/16	-	3
5-112116496-C-CA	c.544dup	p.T182Nfs*11	Frameshift	6/16	-	1
5-112116499-ACA-GAC	c.544_546delinsGAC	p.T182D	Missense	6/16	-	1
5-112116499-AC-GG	c.544_545delinsGG	p.T182G	Missense	6/16	-	1
5-112116499-A-G	c.544A>G	p.T182A	Missense	6/16	-	1
5-112116500-C-T	c.545C>T	p.T182I	Missense	6/16	-	4
5-112116500-C-CA	c.546dup	p.D183Rfs*10	Frameshift	6/16	-	1
5-112116500-CAG-C	c.547_548del	p.D183Yfs*9	Frameshift	6/16	-	1
5-112116502-G-A	c.547G>A	p.D183N	Missense	6/16	-	2
5-112116502-GAT-G	c.550_551del	p.M184Dfs*8	Frameshift	6/16	-	1
5-112116505-A-G	c.550A>G	p.M184V	Missense	6/16	-	7
5-112116507-G-A	c.552G>A	p.M184I	Missense	6/16	-	2
5-112116507-G-C	c.552G>C	p.M184I	Missense	6/16	-	2
5-112116507-G-T	c.552G>T	p.M184I	Missense	6/16	-	2
5-112116508-ACC-TAA	c.553_555delinsTAA	p.T185*	Nonsense	6/16	-	1
5-112116508-AC-GA	c.553_554delinsGA	p.T185D	Missense	6/16	-	1
5-112116508-AC-TG	c.553_554delinsTG	p.T185C	Missense	6/16	-	1
5-112116508-A-G	c.553A>G	p.T185A	Missense	6/16	-	1
5-112116508-GA-G	c.553del	p.T185Pfs*20	Frameshift	6/16	-	1
5-112116509-C-T	c.554C>T	p.T185I	Missense	6/16	-	2
5-112116511-A-G	c.556A>G	p.R186G	Missense	6/16	-	1
5-112116511-AGA-CAT	c.556_558delinsCAT	p.R186H	Missense	6/16	-	6
5-112116511-AGA-TGG	c.556_558delinsTGG	p.R186W	Missense	6/16	-	2
5-112116511-AGA-TGT	c.556_558delinsTGT	p.R186C	Missense	6/16	-	3
5-112116511-AG-CA	c.556_557delinsCA	p.R186Q	Missense	6/16	-	1
5-112116511-AG-GC	c.556_557delinsGC	p.R186A	Missense	6/16	-	1
5-112116511-A-T	c.556A>T	p.R186*	Nonsense	6/16	-	10
5-112116511-CA-C	c.556del	p.R186Efs*19	Frameshift	6/16	-	3
5-112116512-AG-A	c.557del	p.R186Kfs*19	Frameshift	6/16	-	1
5-112116512-G-A	c.557G>A	p.R186K	Missense	6/16	-	1
5-112116512-G-C	c.557G>C	p.R186T	Missense	6/16	-	1
5-112116513-A-AT	c.558_559insT	p.R187*	Nonsense	6/16	-	1
5-112116513-A-C	c.558A>C	p.R186S	Missense	6/16	-	1
5-112116513-A-T	c.558A>T	p.R186S	Missense	6/16	-	1
5-112116514-A-G	c.559A>G	p.R187G	Missense	6/16	-	2
5-112116514-AG-CA	c.559_560delinsCA	p.R187Q	Missense	6/16	-	3
5-112116514-AG-GA	c.559_560delinsGA	p.R187E	Missense	6/16	-	1
5-112116514-AG-GC	c.559_560delinsGC	p.R187A	Missense	6/16	-	2
5-112116514-AGG-CAT	c.559_561delinsCAT	p.R187H	Missense	6/16	-	3
5-112116514-AGG-TGT	c.559_561delinsTGT	p.R187C	Missense	6/16	-	1
5-112116515-G-A	c.560G>A	p.R187K	Missense	6/16	-	4
5-112116515-GG-TC	c.560_561delinsTC	p.R187I	Missense	6/16	-	1
5-112116516-G-C	c.561G>C	p.R187S	Missense	6/16	-	1
5-112116516-G-T	c.561G>T	p.R187S	Missense	6/16	-	1
5-112116517-C-A	c.562C>A	p.Q188K	Missense	6/16	-	1
5-112116517-C-T	c.562C>T	p.Q188*	Nonsense	6/16	-	7
5-112116518-A-C	c.563A>C	p.Q188P	Missense	6/16	-	1
5-112116519-A-C	c.564A>C	p.Q188H	Missense	6/16	-	1
5-112116519-A-T	c.564A>T	p.Q188H	Missense	6/16	-	1
5-112116520-T-G	c.565T>G	p.L189V	Missense	6/16	-	1
5-112116520-TT-AA	c.565_566inv	p.L189K	Missense	6/16	-	1
5-112116520-TTG-ATC	c.565_567delinsATC	p.L189I	Missense	6/16	-	1
5-112116522-G-GT	c.567_568insT	p.E190*	Nonsense	6/16	-	1
5-112116522-G-T	c.567G>T	p.L189F	Missense	6/16	-	1
5-112116523-G-A	c.568G>A	p.E190K	Missense	6/16	-	4
5-112116523-G-T	c.568G>T	p.E190*	Nonsense	6/16	-	8
5-112116524-A-C	c.569A>C	p.E190A	Missense	6/16	-	2
5-112116524-A-G	c.569A>G	p.E190G	Missense	6/16	-	2
5-112116525-A-C	c.570A>C	p.E190D	Missense	6/16	-	1
5-112116525-A-AT	c.571dup	p.Y191Lfs*2	Frameshift	6/16	-	2
5-112116526-TA-AT	c.571_572delinsAT	p.Y191I	Missense	6/16	-	1
5-112116526-T-TA	c.572dup	p.Y191*	Nonsense	6/16	-	1
5-112116527-TA-T	c.572del	p.Y191Lfs*14	Frameshift	6/16	-	2
5-112116527-A-AT	c.573dup	p.E192*	Nonsense	6/16	-	1
5-112116528-T-A	c.573T>A	p.Y191*	Nonsense	6/16	-	3
5-112116528-T-C	c.573T>C	p.Y191=	Synonymous	6/16	-	4
5-112116528-T-G	c.573T>G	p.Y191*	Nonsense	6/16	-	3
5-112116529-G-A	c.574G>A	p.E192K	Missense	6/16	-	2
5-112116529-G-C	c.574G>C	p.E192Q	Missense	6/16	-	3
5-112116529-G-T	c.574G>T	p.E192*	Nonsense	6/16	-	2
5-112116530-A-C	c.575A>C	p.E192A	Missense	6/16	-	1
5-112116530-A-G	c.575A>G	p.E192G	Missense	6/16	-	4
5-112116529-GA-G	c.576del	p.A193Qfs*12	Frameshift	6/16	-	1
5-112116531-A-T	c.576A>T	p.E192D	Missense	6/16	-	1
5-112116532-G-A	c.577G>A	p.A193T	Missense	6/16	-	1
5-112116532-G-C	c.577G>C	p.A193P	Missense	6/16	-	1
5-112116532-GCA-TGT	c.577_579delinsTGT	p.A193C	Missense	6/16	-	1
5-112116533-C-CT	c.578_579insT	p.R194Kfs*58	Frameshift	6/16	-	1
5-112116533-CA-C	c.580del	p.R194Gfs*11	Frameshift	6/16	-	1
5-112116535-A-G	c.580A>G	p.R194G	Missense	6/16	-	1
5-112116535-AGG-CAT	c.580_582delinsCAT	p.R194H	Missense	6/16	-	2
5-112116535-AGG-TGT	c.580_582delinsTGT	p.R194C	Missense	6/16	-	2
5-112116535-AG-TA	c.580_581delinsTA	p.R194*	Nonsense	6/16	-	2
5-112116535-A-T	c.580A>T	p.R194W	Missense	6/16	-	2
5-112116536-G-A	c.581G>A	p.R194K	Missense	6/16	-	2
5-112116536-G-T	c.581G>T	p.R194M	Missense	6/16	-	1
5-112116537-G-C	c.582G>C	p.R194S	Missense	6/16	-	3
5-112116537-G-T	c.582G>T	p.R194S	Missense	6/16	-	3
5-112116538-C-A	c.583C>A	p.Q195K	Missense	6/16	-	1
5-112116538-C-G	c.583C>G	p.Q195E	Missense	6/16	-	2
5-112116538-C-T	c.583C>T	p.Q195*	Nonsense	6/16	-	6
5-112116539-A-G	c.584A>G	p.Q195R	Missense	6/16	-	3
5-112116539-A-T	c.584A>T	p.Q195L	Missense	6/16	-	1
5-112116540-A-C	c.585A>C	p.Q195H	Missense	6/16	-	1
5-112116540-A-T	c.585A>T	p.Q195H	Missense	6/16	-	1
5-112116541-A-G	c.586A>G	p.I196V	Missense	6/16	-	2
5-112116541-AT-GC	c.586_587delinsGC	p.I196A	Missense	6/16	-	1
5-112116540-AATCAG-A	c.587_591del	p.I196Sfs*54	Frameshift	6/16	-	1
5-112116541-A-AT	c.587dup	p.R197Qfs*55	Frameshift	6/16	-	1
5-112116544-AGA-TGG	c.589_591delinsTGG	p.R197W	Missense	6/16	-	1
5-112116544-AG-GA	c.589_590delinsGA	p.R197E	Missense	6/16	-	1
5-112116544-AG-GC	c.589_590delinsGC	p.R197A	Missense	6/16	-	1
5-112116544-CA-C	c.589del	p.R197Efs*8	Frameshift	6/16	-	1
5-112116545-G-A	c.590G>A	p.R197K	Missense	6/16	-	2
5-112116543-CAG-C	c.591_592del	p.R197Sfs*54	Frameshift	6/16	-	2
5-112116547-G-A	c.592G>A	p.V198I	Missense	6/16	-	1
5-112116547-GTT-ATG	c.592_594delinsATG	p.V198M	Missense	6/16	-	1
5-112116548-T-C	c.593T>C	p.V198A	Missense	6/16	-	1
5-112116547-G-GT	c.594dup	p.A199Cfs*53	Frameshift	6/16	-	1
5-112116549-T-TG	c.595dup	p.A199Gfs*53	Frameshift	6/16	-	3
5-112116550-G-A	c.595G>A	p.A199T	Missense	6/16	-	4
5-112116551-C-A	c.596C>A	p.A199E	Missense	6/16	-	1
5-112116551-C-G	c.596C>G	p.A199G	Missense	6/16	-	1
5-112116551-C-T	c.596C>T	p.A199V	Missense	6/16	-	18
5-112116552-G-A	c.597G>A	p.A199=	Synonymous	6/16	-	1
5-112116552-G-C	c.597G>C	p.A199=	Synonymous	6/16	-	1
5-112116552-G-T	c.597G>T	p.A199=	Synonymous	6/16	-	1
5-112116553-A-C	c.598A>C	p.M200L	Missense	6/16	-	1
5-112116553-A-T	c.598A>T	p.M200L	Missense	6/16	-	1
5-112116553-AT-GC	c.598_599delinsGC	p.M200A	Missense	6/16	-	1
5-112116553-AT-GG	c.598_599delinsGG	p.M200G	Missense	6/16	-	1
5-112116551-CGATG-C	c.599_602del	p.M200Kfs*4	Frameshift	6/16	-	1
5-112116554-T-G	c.599T>G	p.M200R	Missense	6/16	-	2
5-112116555-G-A	c.600G>A	p.M200I	Missense	6/16	-	2
5-112116555-G-C	c.600G>C	p.M200I	Missense	6/16	-	2
5-112116555-G-T	c.600G>T	p.M200I	Missense	6/16	-	2
5-112116556-G-A	c.601G>A	p.E201K	Missense	6/16	-	1
5-112116556-G-T	c.601G>T	p.E201*	Nonsense	6/16	-	4
5-112116557-A-C	c.602A>C	p.E201A	Missense	6/16	-	1
5-112116556-GA-G	c.603del	p.E202Nfs*3	Frameshift	6/16	-	1
5-112116558-A-C	c.603A>C	p.E201D	Missense	6/16	-	1
5-112116558-A-G	c.603A>G	p.E201=	Synonymous	6/16	-	2
5-112116558-A-T	c.603A>T	p.E201D	Missense	6/16	-	1
5-112116559-G-A	c.604G>A	p.E202K	Missense	6/16	-	1
5-112116559-GAA-TGT	c.604_606delinsTGT	p.E202C	Missense	6/16	-	1
5-112116559-G-C	c.604G>C	p.E202Q	Missense	6/16	-	1
5-112116559-G-GT	c.604_605insT	p.E202Vfs*50	Frameshift	6/16	-	1
5-112116559-G-T	c.604G>T	p.E202*	Nonsense	6/16	-	1
5-112116560-A-C	c.605A>C	p.E202A	Missense	6/16	-	3
5-112116560-A-G	c.605A>G	p.E202G	Missense	6/16	-	2
5-112116559-G-GA	c.606dup	p.Q203Tfs*49	Frameshift	6/16	-	2
5-112116561-A-C	c.606A>C	p.E202D	Missense	6/16	-	1
5-112116561-A-G	c.606A>G	p.E202=	Synonymous	6/16	-	2
5-112116561-A-T	c.606A>T	p.E202D	Missense	6/16	-	1
5-112116562-AC-A	c.607del	p.Q203Nfs*2	Frameshift	6/16	-	2
5-112116562-C-A	c.607C>A	p.Q203K	Missense	6/16	-	1
5-112116562-C-G	c.607C>G	p.Q203E	Missense	6/16	-	12
5-112116562-C-T	c.607C>T	p.Q203*	Nonsense	6/16	-	7
5-112116564-A-G	c.609A>G	p.Q203=	Synonymous	6/16	-	1
5-112116565-CT-GC	c.610_611delinsGC	p.L204A	Missense	6/16	-	2
5-112116565-C-CT	c.611dup	p.G205Rfs*47	Frameshift	6/16	-	1
5-112116566-CTA-C	c.611_612del	p.L204Rfs*47	Frameshift	6/16	-	1
5-112116564-ACTAGGTAC-A	c.612_619del	p.G205Pfs*44	Frameshift	6/16	-	1
5-112116568-G-A	c.613G>A	p.G205S	Missense	6/16	-	5
5-112116568-G-C	c.613G>C	p.G205R	Missense	6/16	-	2
5-112116568-GGT-TGA	c.613_615delinsTGA	p.G205*	Nonsense	6/16	-	1
5-112116567-AG-A	c.614del	p.G205Vfs*14	Frameshift	6/16	-	1
5-112116569-G-A	c.614G>A	p.G205D	Missense	6/16	-	2
5-112116569-G-C	c.614G>C	p.G205A	Missense	6/16	-	2
5-112116571-A-C	c.616A>C	p.T206P	Missense	6/16	-	1
5-112116571-AC-GA	c.616_617delinsGA	p.T206D	Missense	6/16	-	4
5-112116571-A-G	c.616A>G	p.T206A	Missense	6/16	-	3
5-112116571-TA-T	c.616del	p.T206Pfs*13	Frameshift	6/16	-	1
5-112116571-A-T	c.616A>T	p.T206S	Missense	6/16	-	1
5-112116572-C-G	c.617C>G	p.T206S	Missense	6/16	-	1
5-112116574-T-C	c.619T>C	p.C207R	Missense	6/16	-	1
5-112116574-TG-GC	c.619_620delinsGC	p.C207A	Missense	6/16	-	1
5-112116575-G-A	c.620G>A	p.C207Y	Missense	6/16	-	1
5-112116575-G-T	c.620G>T	p.C207F	Missense	6/16	-	1
5-112116576-C-A	c.621C>A	p.C207*	Nonsense	6/16	-	2
5-112116577-C-T	c.622C>T	p.Q208*	Nonsense	6/16	-	4
5-112116577-C-CA	c.623dup	p.D209Gfs*43	Frameshift	6/16	-	2
5-112116578-A-G	c.623A>G	p.Q208R	Missense	6/16	-	1
5-112116578-CA-C	c.623del	p.Q208Rfs*11	Frameshift	6/16	-	1
5-112116579-G-A	c.624G>A	p.Q208=	Synonymous	6/16	-	1
5-112116579-G-GA	c.624_625insA	p.D209Rfs*43	Frameshift	6/16	-	1
5-112116579-G-GT	c.624_625insT	p.D209*	Nonsense	6/16	-	1
5-112116580-G-A	c.625G>A	p.D209N	Missense	6/16	-	1
5-112116580-G-C	c.625G>C	p.D209H	Missense	6/16	-	2
5-112116580-G-T	c.625G>T	p.D209Y	Missense	6/16	-	2
5-112116581-A-C	c.626A>C	p.D209A	Missense	6/16	-	1
5-112116581-A-T	c.626A>T	p.D209V	Missense	6/16	-	1
5-112116582-AT-A	c.627del	p.D209Efs*10	Frameshift	6/16	-	2
5-112116582-T-G	c.627T>G	p.D209E	Missense	6/16	-	1
5-112116580-GAT-G	c.628_629del	p.M210Gfs*41	Frameshift	6/16	-	1
5-112116583-A-G	c.628A>G	p.M210V	Missense	6/16	-	1
5-112116583-AT-GC	c.628_629delinsGC	p.M210A	Missense	6/16	-	1
5-112116583-ATG-GAC	c.628_630delinsGAC	p.M210D	Missense	6/16	-	1
5-112116583-ATG-TTT	c.628_630delinsTTT	p.M210F	Missense	6/16	-	3
5-112116584-T-C	c.629T>C	p.M210T	Missense	6/16	-	1
5-112116585-G-A	c.630G>A	p.M210I	Missense	6/16	-	1
5-112116585-G-C	c.630G>C	p.M210I	Missense	6/16	-	1
5-112116585-G-GT	c.630_631insT	p.E211*	Nonsense	6/16	-	1
5-112116585-G-T	c.630G>T	p.M210I	Missense	6/16	-	1
5-112116586-G-A	c.631G>A	p.E211K	Missense	6/16	-	2
5-112116586-G-C	c.631G>C	p.E211Q	Missense	6/16	-	1
5-112116586-G-T	c.631G>T	p.E211*	Nonsense	6/16	-	3
5-112116587-A-C	c.632A>C	p.E211A	Missense	6/16	-	1
5-112116587-A-G	c.632A>G	p.E211G	Missense	6/16	-	2
5-112116588-A-AT	c.633_634insT	p.K212*	Nonsense	6/16	-	1
5-112116588-A-G	c.633A>G	p.E211=	Synonymous	6/16	-	1
5-112116589-AA-GC	c.634_635delinsGC	p.K212A	Missense	6/16	-	1
5-112116589-A-T	c.634A>T	p.K212*	Nonsense	6/16	-	1
5-112116590-A-G	c.635A>G	p.K212R	Missense	6/16	-	3
5-112116586-GA-G	c.636del	p.K212Nfs*7	Frameshift	6/16	-	3
5-112116586-G-GA	c.636dup	p.R213Tfs*39	Frameshift	6/16	-	3
5-112116591-A-C	c.636A>C	p.K212N	Missense	6/16	-	4
5-112116591-A-T	c.636A>T	p.K212N	Missense	6/16	-	1
5-112116592-C-A	c.637C>A	p.R213=	Synonymous	6/16	-	1
5-112116592-C-G	c.637C>G	p.R213G	Missense	6/16	-	7
5-112116592-CG-AC	c.637_638delinsAC	p.R213T	Missense	6/16	-	1
5-112116592-CGA-TGG	c.637_639delinsTGG	p.R213W	Missense	6/16	-	2
5-112116592-C-T	c.637C>T	p.R213*	Nonsense	6/16	-	134
5-112116594-A-C	c.639A>C	p.R213=	Synonymous	6/16	-	1
5-112116594-A-G	c.639A>G	p.R213=	Synonymous	6/16	-	1
5-112116594-A-T	c.639A>T	p.R213=	Synonymous	6/16	-	1
5-112116593-G-A	c.638G>A	p.R213Q	Missense	6/16	-	12
5-112116593-G-T	c.638G>T	p.R213L	Missense	6/16	-	2
5-112116595-G-A	c.640G>A	p.A214T	Missense	6/16	-	3
5-112116595-G-T	c.640G>T	p.A214S	Missense	6/16	-	3
5-112116595-G-GC	c.641dup	p.Q215Tfs*37	Frameshift	6/16	-	1
5-112116596-C-T	c.641C>T	p.A214V	Missense	6/16	-	7
5-112116597-A-AC	c.643dup	p.Q215Pfs*37	SpliceDonorInsertion	6/16	-	1
5-112116598-C-A	c.643C>A	p.Q215K	Missense	6/16	-	1
5-112116598-C-T	c.643C>T	p.Q215*	Nonsense	6/16	-	11
5-112116600-G-A	c.645G>A	p.Q215=	Synonymous	6/16	-	1
5-112116600-G-C	c.645G>C	p.Q215H	Missense	6/16	-	1
5-112116600-G-T	c.645G>T	p.Q215H	Missense	6/16	-	1
5-112116601-G-A	c.645+1G>A	-	IntronicSNV	-	6/15	9
5-112116601-G-T	c.645+1G>T	-	IntronicSNV	-	6/15	2
5-112116602-T-G	c.645+2T>G	-	IntronicSNV	-	6/15	3
5-112116632-C-T	c.645+32C>T	-	IntronicSNV	-	6/15	14
5-112116644-AG-A	c.645+46del	-	IntronicDeletion	-	6/15	1
5-112116661-C-T	c.645+61C>T	-	IntronicSNV	-	6/15	3
5-112116694-G-A	c.645+94G>A	-	IntronicSNV	-	6/15	1
5-112116729-A-C	c.645+129A>C	-	IntronicSNV	-	6/15	5
5-112116773-A-G	c.645+173A>G	-	IntronicSNV	-	6/15	6
5-112116773-A-T	c.645+173A>T	-	IntronicSNV	-	6/15	3
5-112117476-C-T	c.645+876C>T	-	IntronicSNV	-	6/15	1
5-112117774-G-A	c.645+1174G>A	-	IntronicSNV	-	6/15	1
5-112118195-G-A	c.645+1595G>A	-	IntronicSNV	-	6/15	1
5-112118338-G-A	c.645+1738G>A	-	IntronicSNV	-	6/15	3
5-112118956-C-T	c.645+2356C>T	-	IntronicSNV	-	6/15	4
5-112119132-T-G	c.645+2532T>G	-	IntronicSNV	-	6/15	1
5-112119327-CAA-C	c.645+2744_645+2745del	-	IntronicDeletion	-	6/15	1
5-112119327-CA-C	c.645+2745del	-	IntronicDeletion	-	6/15	1
5-112119327-C-CA	c.645+2745dup	-	IntronicInsertion	-	6/15	1
5-112119462-CAA-C	c.645+2880_645+2881del	-	IntronicDeletion	-	6/15	1
5-112119502-G-A	c.645+2902G>A	-	IntronicSNV	-	6/15	1
5-112119593-A-G	c.645+2993A>G	-	IntronicSNV	-	6/15	1
5-112119593-A-T	c.645+2993A>T	-	IntronicSNV	-	6/15	1
5-112122532-G-A	c.646-5611G>A	-	IntronicSNV	-	6/15	4
5-112122532-G-C	c.646-5611G>C	-	IntronicSNV	-	6/15	4
5-112122532-G-T	c.646-5611G>T	-	IntronicSNV	-	6/15	4
5-112124369-T-C	c.646-3774T>C	-	IntronicSNV	-	6/15	10
5-112124369-T-G	c.646-3774T>G	-	IntronicSNV	-	6/15	10
5-112128142-G-C	c.646-1G>C	-	IntronicSNV	-	6/15	1
5-112128142-G-T	c.646-1G>T	-	IntronicSNV	-	6/15	1
5-112128143-C-A	c.646C>A	p.R216=	Synonymous	7/16	-	1
5-112128143-C-G	c.646C>G	p.R216G	Missense	7/16	-	6
5-112128143-CGA-TGG	c.646_648delinsTGG	p.R216W	Missense	7/16	-	1
5-112128143-C-T	c.646C>T	p.R216*	Nonsense	7/16	-	116
5-112128145-A-C	c.648A>C	p.R216=	Synonymous	7/16	-	1
5-112128145-A-G	c.648A>G	p.R216=	Synonymous	7/16	-	1
5-112128145-A-T	c.648A>T	p.R216=	Synonymous	7/16	-	1
5-112128144-G-A	c.647G>A	p.R216Q	Missense	7/16	-	16
5-112128144-GA-AT	c.647_648delinsAT	p.R216H	Missense	7/16	-	1
5-112128146-AGA-CAT	c.649_651delinsCAT	p.R217H	Missense	7/16	-	1
5-112128146-AGA-TGG	c.649_651delinsTGG	p.R217W	Missense	7/16	-	1
5-112128146-AGA-TGT	c.649_651delinsTGT	p.R217C	Missense	7/16	-	1
5-112128146-AG-CA	c.649_650delinsCA	p.R217Q	Missense	7/16	-	1
5-112128146-A-T	c.649A>T	p.R217*	Nonsense	7/16	-	2
5-112128147-G-A	c.650G>A	p.R217K	Missense	7/16	-	1
5-112128146-A-C	c.649A>C	p.R217=	Synonymous	7/16	-	1
5-112128148-A-G	c.651A>G	p.R217=	Synonymous	7/16	-	1
5-112128149-A-G	c.652A>G	p.I218V	Missense	7/16	-	2
5-112128150-TA-AC	c.653_654delinsAC	p.I218N	Missense	7/16	-	1
5-112128150-T-C	c.653T>C	p.I218T	Missense	7/16	-	2
5-112128152-AG-A	c.655del	p.A219Pfs*74	Frameshift	7/16	-	1
5-112128152-G-A	c.655G>A	p.A219T	Missense	7/16	-	1
5-112128152-G-GAA	c.655_656insAA	p.A219Efs*75	Frameshift	7/16	-	1
5-112128150-TAGCC-T	c.656_659del	p.A219Efs*73	Frameshift	7/16	-	1
5-112128153-C-T	c.656C>T	p.A219V	Missense	7/16	-	1
5-112128154-C-CT	c.657_658insT	p.R220*	Nonsense	7/16	-	1
5-112128154-C-G	c.657C>G	p.A219=	Synonymous	7/16	-	1
5-112128155-A-G	c.658A>G	p.R220G	Missense	7/16	-	1
5-112128155-AG-CA	c.658_659delinsCA	p.R220Q	Missense	7/16	-	1
5-112128155-AG-CT	c.658_659inv	p.R220L	Missense	7/16	-	1
5-112128155-A-T	c.658A>T	p.R220*	Nonsense	7/16	-	1
5-112128156-G-A	c.659G>A	p.R220K	Missense	7/16	-	1
5-112128156-GA-TG	c.659_660delinsTG	p.R220M	Missense	7/16	-	1
5-112128158-A-T	c.661A>T	p.I221F	Missense	7/16	-	1
5-112128159-T-A	c.662T>A	p.I221N	Missense	7/16	-	1
5-112128159-T-C	c.662T>C	p.I221T	Missense	7/16	-	2
5-112128160-T-G	c.663T>G	p.I221M	Missense	7/16	-	1
5-112128161-C-A	c.664C>A	p.Q222K	Missense	7/16	-	1
5-112128161-C-T	c.664C>T	p.Q222*	Nonsense	7/16	-	4
5-112128161-TCAGCAAATCGAAAAGGACATACTTCGTATAC-T	c.664_694del	p.Q222Dfs*61	Frameshift	7/16	-	1
5-112128162-A-G	c.665A>G	p.Q222R	Missense	7/16	-	1
5-112128163-G-T	c.666G>T	p.Q222H	Missense	7/16	-	1
5-112128164-C-T	c.667C>T	p.Q223*	Nonsense	7/16	-	12
5-112128165-A-G	c.668A>G	p.Q223R	Missense	7/16	-	3
5-112128166-A-C	c.669A>C	p.Q223H	Missense	7/16	-	5
5-112128166-A-T	c.669A>T	p.Q223H	Missense	7/16	-	2
5-112128164-CA-C	c.670del	p.I224Sfs*69	Frameshift	7/16	-	1
5-112128167-A-G	c.670A>G	p.I224V	Missense	7/16	-	2
5-112128167-AT-GC	c.670_671delinsGC	p.I224A	Missense	7/16	-	2
5-112128167-A-AT	c.671dup	p.E225Rfs*27	Frameshift	7/16	-	1
5-112128168-T-C	c.671T>C	p.I224T	Missense	7/16	-	1
5-112128169-C-A	c.672C>A	p.I224=	Synonymous	7/16	-	1
5-112128169-C-CT	c.672_673insT	p.E225*	Nonsense	7/16	-	1
5-112128169-C-G	c.672C>G	p.I224M	Missense	7/16	-	1
5-112128169-C-T	c.672C>T	p.I224=	Synonymous	7/16	-	1
5-112128170-G-A	c.673G>A	p.E225K	Missense	7/16	-	12
5-112128170-G-C	c.673G>C	p.E225Q	Missense	7/16	-	1
5-112128170-G-T	c.673G>T	p.E225*	Nonsense	7/16	-	11
5-112128171-A-C	c.674A>C	p.E225A	Missense	7/16	-	1
5-112128171-A-G	c.674A>G	p.E225G	Missense	7/16	-	1
5-112128172-A-C	c.675A>C	p.E225D	Missense	7/16	-	1
5-112128172-A-T	c.675A>T	p.E225D	Missense	7/16	-	1
5-112128170-GA-G	c.677del	p.K226Rfs*67	Frameshift	7/16	-	3
5-112128174-AG-A	c.679del	p.D227Tfs*66	Frameshift	7/16	-	2
5-112128176-G-A	c.679G>A	p.D227N	Missense	7/16	-	3
5-112128176-GAC-AAG	c.679_681delinsAAG	p.D227K	Missense	7/16	-	22
5-112128176-G-T	c.679G>T	p.D227Y	Missense	7/16	-	1
5-112128177-A-C	c.680A>C	p.D227A	Missense	7/16	-	2
5-112128177-A-G	c.680A>G	p.D227G	Missense	7/16	-	3
5-112128178-C-G	c.681C>G	p.D227E	Missense	7/16	-	1
5-112128178-C-T	c.681C>T	p.D227=	Synonymous	7/16	-	1
5-112128179-A-C	c.682A>C	p.I228L	Missense	7/16	-	1
5-112128179-A-G	c.682A>G	p.I228V	Missense	7/16	-	1
5-112128180-T-C	c.683T>C	p.I228T	Missense	7/16	-	1
5-112128180-T-G	c.683T>G	p.I228R	Missense	7/16	-	1
5-112128179-ATACT-A	c.684_687del	p.L229Vfs*63	Frameshift	7/16	-	1
5-112128180-TACTTCGTATACGAC-T	c.685_698del	p.L229Afs*18	Frameshift	7/16	-	1
5-112128182-C-A	c.685C>A	p.L229I	Missense	7/16	-	1
5-112128182-CT-GC	c.685_686delinsGC	p.L229A	Missense	7/16	-	1
5-112128182-C-TT	c.685delinsTT	p.L229Ffs*23	Frameshift	7/16	-	1
5-112128183-TTCGTA-T	c.688_692del	p.R230Tfs*20	Frameshift	7/16	-	3
5-112128185-C-A	c.688C>A	p.R230S	Missense	7/16	-	3
5-112128185-CG-GC	c.688_689delinsGC	p.R230A	Missense	7/16	-	1
5-112128185-C-T	c.688C>T	p.R230C	Missense	7/16	-	23
5-112128186-G-A	c.689G>A	p.R230H	Missense	7/16	-	20
5-112128187-GT-G	c.690del	p.I231Yfs*62	Frameshift	7/16	-	2
5-112128187-T-A	c.690T>A	p.R230=	Synonymous	7/16	-	1
5-112128188-A-G	c.691A>G	p.I231V	Missense	7/16	-	2
5-112128191-C-G	c.694C>G	p.R232G	Missense	7/16	-	1
5-112128191-CGA-TGG	c.694_696delinsTGG	p.R232W	Missense	7/16	-	1
5-112128191-CG-GC	c.694_695delinsGC	p.R232A	Missense	7/16	-	1
5-112128191-C-T	c.694C>T	p.R232*	Nonsense	7/16	-	119
5-112128189-TACG-T	c.695_697del	p.R232del	InFrameDeletion	7/16	-	1
5-112128192-G-A	c.695G>A	p.R232Q	Missense	7/16	-	9
5-112128192-GA-AT	c.695_696delinsAT	p.R232H	Missense	7/16	-	3
5-112128192-G-T	c.695G>T	p.R232L	Missense	7/16	-	1
5-112128193-A-T	c.696A>T	p.R232=	Synonymous	7/16	-	2
5-112128194-C-T	c.697C>T	p.Q233*	Nonsense	7/16	-	5
5-112128195-A-G	c.698A>G	p.Q233R	Missense	7/16	-	1
5-112128196-G-A	c.699G>A	p.Q233=	Synonymous	7/16	-	1
5-112128196-G-C	c.699G>C	p.Q233H	Missense	7/16	-	1
5-112128196-G-T	c.699G>T	p.Q233H	Missense	7/16	-	2
5-112128197-C-G	c.700C>G	p.L234V	Missense	7/16	-	2
5-112128197-C-T	c.700C>T	p.L234F	Missense	7/16	-	7
5-112128197-CT-AC	c.700_701delinsAC	p.L234T	Missense	7/16	-	1
5-112128197-CT-AG	c.700_701inv	p.L234S	Missense	7/16	-	1
5-112128197-CT-GA	c.700_701delinsGA	p.L234D	Missense	7/16	-	1
5-112128197-CT-GC	c.700_701delinsGC	p.L234A	Missense	7/16	-	23
5-112128197-CT-GG	c.700_701delinsGG	p.L234G	Missense	7/16	-	1
5-112128197-CTT-AAG	c.700_702inv	p.L234K	Missense	7/16	-	1
5-112128197-CTT-GAG	c.700_702delinsGAG	p.L234E	Missense	7/16	-	1
5-112128198-T-A	c.701T>A	p.L234H	Missense	7/16	-	1
5-112128198-T-G	c.701T>G	p.L234R	Missense	7/16	-	3
5-112128198-TT-AA	c.701_702inv	p.L234Q	Missense	7/16	-	3
5-112128199-T-A	c.702T>A	p.L234=	Synonymous	7/16	-	1
5-112128200-T-C	c.703T>C	p.L235=	Synonymous	7/16	-	2
5-112128200-T-G	c.703T>G	p.L235V	Missense	7/16	-	3
5-112128200-TTA-ATG	c.703_705delinsATG	p.L235M	Missense	7/16	-	1
5-112128200-TT-AC	c.703_704delinsAC	p.L235T	Missense	7/16	-	1
5-112128200-TT-GA	c.703_704delinsGA	p.L235E	Missense	7/16	-	12
5-112128200-TT-GC	c.703_704delinsGC	p.L235A	Missense	7/16	-	22
5-112128200-TT-GG	c.703_704delinsGG	p.L235G	Missense	7/16	-	1
5-112128197-CT-C	c.704del	p.L235Yfs*58	Frameshift	7/16	-	1
5-112128201-T-A	c.704T>A	p.L235*	Nonsense	7/16	-	7
5-112128201-T-C	c.704T>C	p.L235S	Missense	7/16	-	1
5-112128201-T-G	c.704T>G	p.L235*	Nonsense	7/16	-	3
5-112128202-A-C	c.705A>C	p.L235F	Missense	7/16	-	2
5-112128202-A-G	c.705A>G	p.L235=	Synonymous	7/16	-	6
5-112128202-A-T	c.705A>T	p.L235F	Missense	7/16	-	2
5-112128202-TA-T	c.705del	p.L235Ffs*58	Frameshift	7/16	-	2
5-112128203-CA-AC	c.706_707delinsAC	p.Q236T	Missense	7/16	-	1
5-112128203-CAG-GAC	c.706_708delinsGAC	p.Q236D	Missense	7/16	-	1
5-112128203-C-G	c.706C>G	p.Q236E	Missense	7/16	-	1
5-112128203-C-T	c.706C>T	p.Q236*	Nonsense	7/16	-	9
5-112128204-A-G	c.707A>G	p.Q236R	Missense	7/16	-	1
5-112128204-CA-C	c.707del	p.Q236Rfs*57	Frameshift	7/16	-	1
5-112128206-T-A	c.709T>A	p.S237T	Missense	7/16	-	1
5-112128206-TC-CT	c.709_710delinsCT	p.S237L	Missense	7/16	-	1
5-112128206-T-G	c.709T>G	p.S237A	Missense	7/16	-	1
5-112128207-C-A	c.710C>A	p.S237Y	Missense	7/16	-	1
5-112128207-C-T	c.710C>T	p.S237F	Missense	7/16	-	2
5-112128208-C-T	c.711C>T	p.S237=	Synonymous	7/16	-	1
5-112128206-TC-T	c.712del	p.Q238Kfs*55	Frameshift	7/16	-	1
5-112128206-T-TC	c.712dup	p.Q238Pfs*14	Frameshift	7/16	-	1
5-112128209-C-G	c.712C>G	p.Q238E	Missense	7/16	-	2
5-112128209-C-T	c.712C>T	p.Q238*	Nonsense	7/16	-	5
5-112128210-A-G	c.713A>G	p.Q238R	Missense	7/16	-	1
5-112128212-G-A	c.715G>A	p.A239T	Missense	7/16	-	2
5-112128212-G-C	c.715G>C	p.A239P	Missense	7/16	-	2
5-112128212-G-T	c.715G>T	p.A239S	Missense	7/16	-	1
5-112128213-GC-G	c.716del	p.A239Efs*54	Frameshift	7/16	-	2
5-112128213-CA-C	c.718del	p.T240Qfs*53	Frameshift	7/16	-	1
5-112128215-A-C	c.718A>C	p.T240P	Missense	7/16	-	1
5-112128215-AC-GT	c.718_719inv	p.T240V	Missense	7/16	-	1
5-112128215-A-G	c.718A>G	p.T240A	Missense	7/16	-	4
5-112128215-A-T	c.718A>T	p.T240S	Missense	7/16	-	5
5-112128216-AC-A	c.719del	p.T240Kfs*53	Frameshift	7/16	-	1
5-112128216-C-A	c.719C>A	p.T240K	Missense	7/16	-	1
5-112128216-CA-AC	c.719_720delinsAC	p.T240N	Missense	7/16	-	1
5-112128216-CA-TG	c.719_720inv	p.T240M	Missense	7/16	-	2
5-112128216-C-G	c.719C>G	p.T240R	Missense	7/16	-	1
5-112128216-C-T	c.719C>T	p.T240I	Missense	7/16	-	1
5-112128216-CAG-C	c.721_722del	p.E241Sfs*10	Frameshift	7/16	-	1
5-112128218-G-A	c.721G>A	p.E241K	Missense	7/16	-	9
5-112128218-G-T	c.721G>T	p.E241*	Nonsense	7/16	-	1
5-112128219-A-G	c.722A>G	p.E241G	Missense	7/16	-	1
5-112128218-GA-G	c.723del	p.A242Qfs*51	Frameshift	7/16	-	1
5-112128218-G-GA	c.723dup	p.A242Sfs*10	Frameshift	7/16	-	1
5-112128220-A-G	c.723A>G	p.E241=	Synonymous	7/16	-	1
5-112128221-G-A	c.724G>A	p.A242T	Missense	7/16	-	1
5-112128221-GCA-TGT	c.724_726delinsTGT	p.A242C	Missense	7/16	-	1
5-112128221-G-T	c.724G>T	p.A242S	Missense	7/16	-	2
5-112128222-C-A	c.725C>A	p.A242E	Missense	7/16	-	1
5-112128222-C-T	c.725C>T	p.A242V	Missense	7/16	-	4
5-112128218-G-GAAGCAT	c.726_727insTAAGCA	p.A242_E243ins*	InFrameInsertion	7/16	-	1
5-112128223-CA-C	c.726del	p.E243Rfs*50	Frameshift	7/16	-	1
5-112128224-G-A	c.727G>A	p.E243K	Missense	7/16	-	5
5-112128224-G-T	c.727G>T	p.E243*	Nonsense	7/16	-	2
5-112128225-A-T	c.728A>T	p.E243V	Missense	7/16	-	1
5-112128225-GA-G	c.728del	p.E243Gfs*50	Frameshift	7/16	-	1
5-112128226-G-C	c.729G>C	p.E243D	Missense	7/16	-	2
5-112128226-G-T	c.729G>T	p.E243D	Missense	7/16	-	2
5-112128271-T-C	c.729+45T>C	-	IntronicSNV	-	7/15	1
5-112128314-T-C	c.729+88T>C	-	IntronicSNV	-	7/15	2
5-112129967-G-A	c.729+1741G>A	-	IntronicSNV	-	7/15	1
5-112130086-C-A	c.729+1860C>A	-	IntronicSNV	-	7/15	2
5-112131288-A-G	c.729+3062A>G	-	IntronicSNV	-	7/15	2
5-112131787-A-G	c.729+3561A>G	-	IntronicSNV	-	7/15	2
5-112135067-T-C	c.730-1909T>C	-	IntronicSNV	-	7/15	2
5-112135090-G-A	c.730-1886G>A	-	IntronicSNV	-	7/15	4
5-112135090-G-C	c.730-1886G>C	-	IntronicSNV	-	7/15	4
5-112135737-A-G	c.730-1239A>G	-	IntronicSNV	-	7/15	1
5-112136204-A-G	c.730-772A>G	-	IntronicSNV	-	7/15	1
5-112136204-A-T	c.730-772A>T	-	IntronicSNV	-	7/15	1
5-112136947-A-T	c.730-29A>T	-	IntronicSNV	-	7/15	1
5-112136954-G-C	c.730-22G>C	-	IntronicSNV	-	7/15	2
5-112136966-A-G	c.730-10A>G	-	IntronicSNV	-	7/15	1
5-112136973-CAG-C	c.730_731del	p.R244Vfs*7	SpliceAcceptorDeletion	8/16	-	4
5-112136976-A-G	c.730A>G	p.R244G	Missense	8/16	-	1
5-112136976-AGG-CAT	c.730_732delinsCAT	p.R244H	Missense	8/16	-	3
5-112136976-AGG-TGT	c.730_732delinsTGT	p.R244C	Missense	8/16	-	2
5-112136977-G-A	c.731G>A	p.R244K	Missense	8/16	-	2
5-112136977-G-T	c.731G>T	p.R244M	Missense	8/16	-	2
5-112136978-G-A	c.732G>A	p.R244=	Synonymous	8/16	-	1
5-112136978-G-T	c.732G>T	p.R244S	Missense	8/16	-	1
5-112136979-GTC-G	c.733_734del	p.S245Ifs*6	Frameshift	8/16	-	1
5-112136979-T-A	c.733T>A	p.S245T	Missense	8/16	-	2
5-112136979-T-C	c.733T>C	p.S245P	Missense	8/16	-	1
5-112136980-C-A	c.734C>A	p.S245*	Nonsense	8/16	-	6
5-112136980-CA-AT	c.734_735delinsAT	p.S245Y	Missense	8/16	-	1
5-112136980-C-G	c.734C>G	p.S245*	Nonsense	8/16	-	3
5-112136980-C-T	c.734C>T	p.S245L	Missense	8/16	-	1
5-112136982-AT-A	c.736del	p.S246Lfs*47	Frameshift	8/16	-	1
5-112136982-T-C	c.736T>C	p.S246P	Missense	8/16	-	4
5-112136982-T-G	c.736T>G	p.S246A	Missense	8/16	-	4
5-112136983-C-G	c.737C>G	p.S246C	Missense	8/16	-	1
5-112136984-T-A	c.738T>A	p.S246=	Synonymous	8/16	-	1
5-112136984-T-C	c.738T>C	p.S246=	Synonymous	8/16	-	2
5-112136984-T-G	c.738T>G	p.S246=	Synonymous	8/16	-	1
5-112136984-T-TC	c.739dup	p.Q247Pfs*5	Frameshift	8/16	-	1
5-112136985-C-A	c.739C>A	p.Q247K	Missense	8/16	-	1
5-112136985-C-T	c.739C>T	p.Q247*	Nonsense	8/16	-	4
5-112136985-TCA-T	c.739_740del	p.Q247Efs*4	Frameshift	8/16	-	1
5-112136986-A-G	c.740A>G	p.Q247R	Missense	8/16	-	1
5-112136988-AAC-CAA	c.742_744delinsCAA	p.N248Q	Missense	8/16	-	2
5-112136988-AA-GC	c.742_743delinsGC	p.N248A	Missense	8/16	-	2
5-112136988-A-G	c.742A>G	p.N248D	Missense	8/16	-	1
5-112136989-A-G	c.743A>G	p.N248S	Missense	8/16	-	1
5-112136990-C-A	c.744C>A	p.N248K	Missense	8/16	-	1
5-112136990-C-G	c.744C>G	p.N248K	Missense	8/16	-	2
5-112136992-A-G	c.746A>G	p.K249R	Missense	8/16	-	1
5-112136993-G-C	c.747G>C	p.K249N	Missense	8/16	-	2
5-112136993-G-T	c.747G>T	p.K249N	Missense	8/16	-	1
5-112136994-CAT-AAG	c.748_750delinsAAG	p.H250K	Missense	8/16	-	1
5-112136994-CAT-TAA	c.748_750delinsTAA	p.H250*	Nonsense	8/16	-	1
5-112136994-C-G	c.748C>G	p.H250D	Missense	8/16	-	1
5-112136994-C-T	c.748C>T	p.H250Y	Missense	8/16	-	3
5-112136995-A-G	c.749A>G	p.H250R	Missense	8/16	-	3
5-112136995-CA-C	c.749del	p.H250Lfs*43	Frameshift	8/16	-	1
5-112136997-G-A	c.751G>A	p.E251K	Missense	8/16	-	1
5-112136997-G-C	c.751G>C	p.E251Q	Missense	8/16	-	1
5-112136997-G-T	c.751G>T	p.E251*	Nonsense	8/16	-	3
5-112136998-A-C	c.752A>C	p.E251A	Missense	8/16	-	1
5-112137000-A-C	c.754A>C	p.T252P	Missense	8/16	-	1
5-112137000-ACC-TAA	c.754_756delinsTAA	p.T252*	Nonsense	8/16	-	1
5-112137000-A-G	c.754A>G	p.T252A	Missense	8/16	-	5
5-112137001-CC-TG	c.755_756delinsTG	p.T252M	Missense	8/16	-	1
5-112137001-C-G	c.755C>G	p.T252S	Missense	8/16	-	1
5-112137002-C-A	c.756C>A	p.T252=	Synonymous	8/16	-	1
5-112137002-C-G	c.756C>G	p.T252=	Synonymous	8/16	-	1
5-112137002-C-T	c.756C>T	p.T252=	Synonymous	8/16	-	2
5-112137003-G-A	c.757G>A	p.G253S	Missense	8/16	-	9
5-112137003-G-T	c.757G>T	p.G253C	Missense	8/16	-	1
5-112137002-CG-C	c.758del	p.G253Afs*40	Frameshift	8/16	-	1
5-112137004-G-A	c.758G>A	p.G253D	Missense	8/16	-	8
5-112137004-GGCTCA-G	c.758_762del	p.G253Afs*2	Frameshift	8/16	-	1
5-112137006-T-A	c.760T>A	p.S254T	Missense	8/16	-	3
5-112137006-T-C	c.760T>C	p.S254P	Missense	8/16	-	1
5-112137007-C-A	c.761C>A	p.S254*	Nonsense	8/16	-	3
5-112137007-CA-GT	c.761_762delinsGT	p.S254C	Missense	8/16	-	1
5-112137007-C-G	c.761C>G	p.S254*	Nonsense	8/16	-	4
5-112137007-C-CA	c.762dup	p.H255Tfs*2	Frameshift	8/16	-	1
5-112137008-A-C	c.762A>C	p.S254=	Synonymous	8/16	-	1
5-112137008-A-G	c.762A>G	p.S254=	Synonymous	8/16	-	2
5-112137008-A-T	c.762A>T	p.S254=	Synonymous	8/16	-	1
5-112137006-TCA-T	c.763_764del	p.H255*	Frameshift	8/16	-	1
5-112137009-C-T	c.763C>T	p.H255Y	Missense	8/16	-	2
5-112137009-C-CA	c.764dup	p.H255Qfs*2	Frameshift	8/16	-	1
5-112137010-A-G	c.764A>G	p.H255R	Missense	8/16	-	2
5-112137012-G-A	c.766G>A	p.D256N	Missense	8/16	-	2
5-112137013-GA-G	c.767del	p.D256Vfs*37	Frameshift	8/16	-	1
5-112137014-ATGCTG-A	c.768_772del	p.D256Efs*5	Frameshift	8/16	-	1
5-112137014-T-A	c.768T>A	p.D256E	Missense	8/16	-	1
5-112137014-T-G	c.768T>G	p.D256E	Missense	8/16	-	2
5-112137015-G-A	c.769G>A	p.A257T	Missense	8/16	-	2
5-112137015-G-T	c.769G>T	p.A257S	Missense	8/16	-	1
5-112137016-C-G	c.770C>G	p.A257G	Missense	8/16	-	1
5-112137016-C-T	c.770C>T	p.A257V	Missense	8/16	-	4
5-112137017-CT-C	c.771del	p.E258Sfs*35	Frameshift	8/16	-	1
5-112137018-G-A	c.772G>A	p.E258K	Missense	8/16	-	3
5-112137018-G-C	c.772G>C	p.E258Q	Missense	8/16	-	4
5-112137018-G-T	c.772G>T	p.E258*	Nonsense	8/16	-	6
5-112137019-A-C	c.773A>C	p.E258A	Missense	8/16	-	1
5-112137019-A-G	c.773A>G	p.E258G	Missense	8/16	-	2
5-112137020-G-C	c.774G>C	p.E258D	Missense	8/16	-	1
5-112137020-G-T	c.774G>T	p.E258D	Missense	8/16	-	1
5-112137021-C-A	c.775C>A	p.R259=	Synonymous	8/16	-	2
5-112137021-CG-AA	c.775_776delinsAA	p.R259K	Missense	8/16	-	1
5-112137021-CG-AC	c.775_776delinsAC	p.R259T	Missense	8/16	-	1
5-112137021-CG-GC	c.775_776delinsGC	p.R259A	Missense	8/16	-	1
5-112137021-CGG-GAC	c.775_777delinsGAC	p.R259D	Missense	8/16	-	1
5-112137021-C-T	c.775C>T	p.R259W	Missense	8/16	-	14
5-112137023-G-A	c.777G>A	p.R259=	Synonymous	8/16	-	5
5-112137023-G-C	c.777G>C	p.R259=	Synonymous	8/16	-	4
5-112137023-G-T	c.777G>T	p.R259=	Synonymous	8/16	-	5
5-112137022-G-A	c.776G>A	p.R259Q	Missense	8/16	-	6
5-112137022-G-C	c.776G>C	p.R259P	Missense	8/16	-	1
5-112137022-GG-AT	c.776_777delinsAT	p.R259H	Missense	8/16	-	1
5-112137024-C-T	c.778C>T	p.Q260*	Nonsense	8/16	-	11
5-112137025-A-C	c.779A>C	p.Q260P	Missense	8/16	-	1
5-112137025-A-G	c.779A>G	p.Q260R	Missense	8/16	-	2
5-112137025-A-T	c.779A>T	p.Q260L	Missense	8/16	-	1
5-112137026-G-C	c.780G>C	p.Q260H	Missense	8/16	-	8
5-112137026-G-T	c.780G>T	p.Q260H	Missense	8/16	-	6
5-112137027-A-G	c.781A>G	p.N261D	Missense	8/16	-	3
5-112137026-G-GA	c.782dup	p.N261Kfs*2	Frameshift	8/16	-	1
5-112137028-A-G	c.782A>G	p.N261S	Missense	8/16	-	1
5-112137027-AATG-A	c.783_785del	p.N261_E262delinsK	MultiAAMissense	8/16	-	1
5-112137028-A-AT	c.783dup	p.E262*	Nonsense	8/16	-	1
5-112137030-G-A	c.784G>A	p.E262K	Missense	8/16	-	4
5-112137030-G-T	c.784G>T	p.E262*	Nonsense	8/16	-	7
5-112137031-A-C	c.785A>C	p.E262A	Missense	8/16	-	1
5-112137031-A-G	c.785A>G	p.E262G	Missense	8/16	-	2
5-112137032-A-G	c.786A>G	p.E262=	Synonymous	8/16	-	1
5-112137033-AGG-A	c.787_788del	p.G263Sfs*13	Frameshift	8/16	-	1
5-112137033-AGGT-A	c.787_789del	p.G263del	InFrameDeletion	8/16	-	1
5-112137033-G-A	c.787G>A	p.G263S	Missense	8/16	-	1
5-112137032-AG-A	c.788del	p.G263Vfs*30	Frameshift	8/16	-	1
5-112137034-G-A	c.788G>A	p.G263D	Missense	8/16	-	1
5-112137034-GT-AG	c.788_789delinsAG	p.G263E	Missense	8/16	-	1
5-112137035-T-C	c.789T>C	p.G263=	Synonymous	8/16	-	1
5-112137036-C-G	c.790C>G	p.Q264E	Missense	8/16	-	1
5-112137036-C-T	c.790C>T	p.Q264*	Nonsense	8/16	-	15
5-112137037-A-C	c.791A>C	p.Q264P	Missense	8/16	-	1
5-112137037-A-G	c.791A>G	p.Q264R	Missense	8/16	-	5
5-112137037-A-T	c.791A>T	p.Q264L	Missense	8/16	-	1
5-112137036-CA-C	c.792del	p.G265Efs*28	Frameshift	8/16	-	1
5-112137038-A-T	c.792A>T	p.Q264H	Missense	8/16	-	2
5-112137039-G-A	c.793G>A	p.G265R	Missense	8/16	-	1
5-112137039-G-C	c.793G>C	p.G265R	Missense	8/16	-	1
5-112137039-G-T	c.793G>T	p.G265*	Nonsense	8/16	-	4
5-112137038-A-AG	c.794dup	p.V266Sfs*11	Frameshift	8/16	-	2
5-112137038-AG-A	c.794del	p.G265Efs*28	Frameshift	8/16	-	1
5-112137040-G-A	c.794G>A	p.G265E	Missense	8/16	-	3
5-112137040-G-C	c.794G>C	p.G265A	Missense	8/16	-	1
5-112137041-GA-G	c.795del	p.V266Wfs*27	Frameshift	8/16	-	1
5-112137042-AG-A	c.796del	p.V266Wfs*27	Frameshift	8/16	-	1
5-112137042-G-A	c.796G>A	p.V266M	Missense	8/16	-	1
5-112137042-GTG-ATC	c.796_798delinsATC	p.V266I	Missense	8/16	-	1
5-112137045-G-A	c.799G>A	p.G267R	Missense	8/16	-	2
5-112137045-G-C	c.799G>C	p.G267R	Missense	8/16	-	1
5-112137045-G-T	c.799G>T	p.G267*	Nonsense	8/16	-	2
5-112137043-TG-T	c.800del	p.G267Efs*26	Frameshift	8/16	-	1
5-112137043-T-TG	c.800dup	p.E268Rfs*9	Frameshift	8/16	-	1
5-112137046-G-A	c.800G>A	p.G267E	Missense	8/16	-	3
5-112137048-G-A	c.802G>A	p.E268K	Missense	8/16	-	1
5-112137048-GA-AG	c.802_803delinsAG	p.E268R	Missense	8/16	-	1
5-112137048-G-T	c.802G>T	p.E268*	Nonsense	8/16	-	15
5-112137049-A-C	c.803A>C	p.E268A	Missense	8/16	-	1
5-112137050-A-C	c.804A>C	p.E268D	Missense	8/16	-	1
5-112137050-A-T	c.804A>T	p.E268D	Missense	8/16	-	1
5-112137051-A-G	c.805A>G	p.I269V	Missense	8/16	-	1
5-112137052-T-TAACAGCC	c.806_807insAACAGCC	p.N270Tfs*9	Frameshift	8/16	-	1
5-112137053-C-G	c.807C>G	p.I269M	Missense	8/16	-	1
5-112137053-C-T	c.807C>T	p.I269=	Synonymous	8/16	-	1
5-112137054-A-G	c.808A>G	p.N270D	Missense	8/16	-	2
5-112137055-A-G	c.809A>G	p.N270S	Missense	8/16	-	2
5-112137056-AC-A	c.810del	p.N270Kfs*23	Frameshift	8/16	-	1
5-112137056-C-CT	c.810_811insT	p.M271Yfs*6	Frameshift	8/16	-	1
5-112137056-C-G	c.810C>G	p.N270K	Missense	8/16	-	1
5-112137056-C-T	c.810C>T	p.N270=	Synonymous	8/16	-	2
5-112137052-TCAACATGG-T	c.811_818del	p.M271Ffs*3	Frameshift	8/16	-	1
5-112137056-C-CA	c.811dup	p.M271Nfs*6	Frameshift	8/16	-	1
5-112137057-A-G	c.811A>G	p.M271V	Missense	8/16	-	4
5-112137058-AT-A	c.812del	p.M271Rfs*22	Frameshift	8/16	-	1
5-112137058-T-C	c.812T>C	p.M271T	Missense	8/16	-	1
5-112137059-G-A	c.813G>A	p.M271I	Missense	8/16	-	2
5-112137059-G-C	c.813G>C	p.M271I	Missense	8/16	-	2
5-112137059-G-T	c.813G>T	p.M271I	Missense	8/16	-	2
5-112137060-G-A	c.814G>A	p.A272T	Missense	8/16	-	3
5-112137060-G-C	c.814G>C	p.A272P	Missense	8/16	-	1
5-112137060-GCA-TGT	c.814_816delinsTGT	p.A272C	Missense	8/16	-	1
5-112137061-C-A	c.815C>A	p.A272E	Missense	8/16	-	1
5-112137061-C-T	c.815C>T	p.A272V	Missense	8/16	-	2
5-112137062-A-G	c.816A>G	p.A272=	Synonymous	8/16	-	1
5-112137063-A-G	c.817A>G	p.T273A	Missense	8/16	-	1
5-112137064-C-A	c.818C>A	p.T273N	Missense	8/16	-	1
5-112137064-C-T	c.818C>T	p.T273I	Missense	8/16	-	2
5-112137064-CT-TG	c.818_819delinsTG	p.T273M	Missense	8/16	-	2
5-112137065-T-A	c.819T>A	p.T273=	Synonymous	8/16	-	1
5-112137065-T-C	c.819T>C	p.T273=	Synonymous	8/16	-	1
5-112137065-T-G	c.819T>G	p.T273=	Synonymous	8/16	-	1
5-112137066-T-C	c.820T>C	p.S274P	Missense	8/16	-	1
5-112137066-T-G	c.820T>G	p.S274A	Missense	8/16	-	1
5-112137067-C-A	c.821C>A	p.S274Y	Missense	8/16	-	1
5-112137067-C-G	c.821C>G	p.S274C	Missense	8/16	-	1
5-112137067-C-T	c.821C>T	p.S274F	Missense	8/16	-	1
5-112137069-G-C	c.823G>C	p.G275R	Missense	8/16	-	2
5-112137069-G-T	c.823G>T	p.G275C	Missense	8/16	-	2
5-112137068-TG-T	c.824del	p.G275Vfs*18	Frameshift	8/16	-	1
5-112137070-G-A	c.824G>A	p.G275D	Missense	8/16	-	3
5-112137070-G-T	c.824G>T	p.G275V	Missense	8/16	-	2
5-112137070-GT-AG	c.824_825delinsAG	p.G275E	Missense	8/16	-	1
5-112137070-G-GT	c.825dup	p.N276*	Nonsense	8/16	-	1
5-112137071-GT-G	c.825del	p.N276Mfs*17	Frameshift	8/16	-	2
5-112137071-T-A	c.825T>A	p.G275=	Synonymous	8/16	-	1
5-112137071-T-C	c.825T>C	p.G275=	Synonymous	8/16	-	1
5-112137071-T-G	c.825T>G	p.G275=	Synonymous	8/16	-	1
5-112137072-AA-GC	c.826_827delinsGC	p.N276A	Missense	8/16	-	3
5-112137072-AAT-CAA	c.826_828delinsCAA	p.N276Q	Missense	8/16	-	3
5-112137072-A-C	c.826A>C	p.N276H	Missense	8/16	-	1
5-112137072-A-G	c.826A>G	p.N276D	Missense	8/16	-	4
5-112137073-A-G	c.827A>G	p.N276S	Missense	8/16	-	1
5-112137074-T-G	c.828T>G	p.N276K	Missense	8/16	-	1
5-112137075-G-A	c.829G>A	p.G277S	Missense	8/16	-	2
5-112137075-G-T	c.829G>T	p.G277C	Missense	8/16	-	1
5-112137076-G-A	c.830G>A	p.G277D	Missense	8/16	-	4
5-112137076-G-C	c.830G>C	p.G277A	Missense	8/16	-	2
5-112137077-T-TC	c.832dup	p.Q278Pfs*10	SpliceDonorInsertion	8/16	-	1
5-112137078-CA-GC	c.832_833delinsGC	p.Q278A	Missense	8/16	-	2
5-112137078-C-T	c.832C>T	p.Q278*	Nonsense	8/16	-	10
5-112137077-T-TCACA	c.833_834insCACA	p.Q278Hfs*11	SpliceDonorInsertion	8/16	-	1
5-112137079-A-G	c.833A>G	p.Q278R	Missense	8/16	-	2
5-112137080-G-A	c.834G>A	p.Q278=	Synonymous	8/16	-	2
5-112137080-G-C	c.834G>C	p.Q278H	Missense	8/16	-	6
5-112137080-G-T	c.834G>T	p.Q278H	Missense	8/16	-	1
5-112137078-CAGGTAAATAAATTATTTTATCATATTTTTTAAAATTATTTAAATATCAGAAAAGTATGA-C	c.834+1_834+59del	-	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	-	8/15	2
5-112137081-G-A	c.834+1G>A	-	IntronicSNV	-	8/15	4
5-112137081-G-C	c.834+1G>C	-	IntronicSNV	-	8/15	2
5-112137081-G-T	c.834+1G>T	-	IntronicSNV	-	8/15	1
5-112137082-T-A	c.834+2T>A	-	IntronicSNV	-	8/15	1
5-112137082-T-C	c.834+2T>C	-	IntronicSNV	-	8/15	4
5-112137156-A-G	c.834+76A>G	-	IntronicSNV	-	8/15	1
5-112137171-T-A	c.834+91T>A	-	IntronicSNV	-	8/15	1
5-112138542-A-G	c.834+1462A>G	-	IntronicSNV	-	8/15	1
5-112138734-G-A	c.834+1654G>A	-	IntronicSNV	-	8/15	1
5-112138734-G-C	c.834+1654G>C	-	IntronicSNV	-	8/15	1
5-112138888-G-C	c.834+1808G>C	-	IntronicSNV	-	8/15	1
5-112139745-A-G	c.834+2665A>G	-	IntronicSNV	-	8/15	1
5-112140022-A-G	c.834+2942A>G	-	IntronicSNV	-	8/15	1
5-112141153-G-A	c.834+4073G>A	-	IntronicSNV	-	8/15	1
5-112144023-A-G	c.834+6943A>G	-	IntronicSNV	-	8/15	1
5-112144444-A-G	c.835-6748A>G	-	IntronicSNV	-	8/15	2
5-112144444-A-T	c.835-6748A>T	-	IntronicSNV	-	8/15	2
5-112144954-T-C	c.835-6238T>C	-	IntronicSNV	-	8/15	1
5-112144954-T-G	c.835-6238T>G	-	IntronicSNV	-	8/15	1
5-112145261-C-A	c.835-5931C>A	-	IntronicSNV	-	8/15	1
5-112145586-C-T	c.835-5606C>T	-	IntronicSNV	-	8/15	1
5-112146117-A-G	c.835-5075A>G	-	IntronicSNV	-	8/15	17
5-112146181-A-G	c.835-5011A>G	-	IntronicSNV	-	8/15	3
5-112146197-T-G	c.835-4995T>G	-	IntronicSNV	-	8/15	1
5-112149757-T-C	c.835-1435T>C	-	IntronicSNV	-	8/15	1
5-112149927-A-G	c.835-1265A>G	-	IntronicSNV	-	8/15	4
5-112151168-A-T	c.835-24A>T	-	IntronicSNV	-	8/15	2
5-112151184-A-G	c.835-8A>G	-	IntronicSNV	-	8/15	1
5-112151189-T-C	c.835-3T>C	-	IntronicSNV	-	8/15	1
5-112151192-G-A	c.835G>A	p.G279S	Missense	9/16	-	1
5-112151192-G-C	c.835G>C	p.G279R	Missense	9/16	-	2
5-112151192-GGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACA-G	c.835_893del	p.G279Lfs*28	InFrameDeletion	9/16	-	1
5-112151192-G-T	c.835G>T	p.G279C	Missense	9/16	-	1
5-112151193-G-A	c.836G>A	p.G279D	Missense	9/16	-	1
5-112151193-G-C	c.836G>C	p.G279A	Missense	9/16	-	1
5-112151194-T-TCACTCTG	c.837_838insCACTCTG	p.S280Hfs*10	Frameshift	9/16	-	1
5-112151195-T-C	c.838T>C	p.S280P	Missense	9/16	-	2
5-112151195-T-G	c.838T>G	p.S280A	Missense	9/16	-	1
5-112151196-C-A	c.839C>A	p.S280*	Nonsense	9/16	-	2
5-112151196-CA-TT	c.839_840delinsTT	p.S280F	Missense	9/16	-	1
5-112151196-C-G	c.839C>G	p.S280*	Nonsense	9/16	-	6
5-112151196-C-T	c.839C>T	p.S280L	Missense	9/16	-	1
5-112151196-TCAAC-T	c.839_842del	p.S280Lfs*12	Frameshift	9/16	-	1
5-112151197-CAA-C	c.840_841del	p.T281Yfs*6	Frameshift	9/16	-	1
5-112151198-A-G	c.841A>G	p.T281A	Missense	9/16	-	3
5-112151199-CT-TG	c.842_843delinsTG	p.T281M	Missense	9/16	-	1
5-112151200-T-C	c.843T>C	p.T281=	Synonymous	9/16	-	1
5-112151201-A-G	c.844A>G	p.T282A	Missense	9/16	-	3
5-112151202-C-T	c.845C>T	p.T282I	Missense	9/16	-	1
5-112151203-A-T	c.846A>T	p.T282=	Synonymous	9/16	-	1
5-112151203-CA-C	c.846del	p.R283Efs*10	Frameshift	9/16	-	1
5-112151202-CACG-C	c.847_849del	p.R283del	InFrameDeletion	9/16	-	1
5-112151204-CG-GC	c.847_848delinsGC	p.R283A	Missense	9/16	-	2
5-112151204-C-T	c.847C>T	p.R283*	Nonsense	9/16	-	95
5-112151205-G-A	c.848G>A	p.R283Q	Missense	9/16	-	16
5-112151205-GA-AT	c.848_849delinsAT	p.R283H	Missense	9/16	-	2
5-112151205-G-T	c.848G>T	p.R283L	Missense	9/16	-	1
5-112151207-ATG-GAC	c.850_852delinsGAC	p.M284D	Missense	9/16	-	1
5-112151207-AT-TA	c.850_851delinsTA	p.M284*	Nonsense	9/16	-	1
5-112151209-G-A	c.852G>A	p.M284I	Missense	9/16	-	2
5-112151209-G-C	c.852G>C	p.M284I	Missense	9/16	-	2
5-112151209-G-T	c.852G>T	p.M284I	Missense	9/16	-	3
5-112151210-G-A	c.853G>A	p.D285N	Missense	9/16	-	1
5-112151210-G-C	c.853G>C	p.D285H	Missense	9/16	-	1
5-112151211-A-G	c.854A>G	p.D285G	Missense	9/16	-	4
5-112151212-C-A	c.855C>A	p.D285E	Missense	9/16	-	1
5-112151212-C-G	c.855C>G	p.D285E	Missense	9/16	-	1
5-112151213-C-A	c.856C>A	p.H286N	Missense	9/16	-	1
5-112151213-CCATGAAACAGCCAGTGTTTT-C	c.856_875del	p.H286Efs*3	Frameshift	9/16	-	1
5-112151213-C-T	c.856C>T	p.H286Y	Missense	9/16	-	3
5-112151215-AT-A	c.858del	p.H286Qfs*7	Frameshift	9/16	-	1
5-112151216-G-A	c.859G>A	p.E287K	Missense	9/16	-	5
5-112151216-G-T	c.859G>T	p.E287*	Nonsense	9/16	-	9
5-112151218-A-C	c.861A>C	p.E287D	Missense	9/16	-	1
5-112151218-A-G	c.861A>G	p.E287=	Synonymous	9/16	-	1
5-112151218-A-T	c.861A>T	p.E287D	Missense	9/16	-	1
5-112151216-GA-G	c.862del	p.T288Qfs*5	Frameshift	9/16	-	1
5-112151219-A-C	c.862A>C	p.T288P	Missense	9/16	-	2
5-112151219-ACA-TGT	c.862_864inv	p.T288C	Missense	9/16	-	1
5-112151219-A-G	c.862A>G	p.T288A	Missense	9/16	-	3
5-112151220-CA-TG	c.863_864inv	p.T288M	Missense	9/16	-	1
5-112151222-G-A	c.865G>A	p.A289T	Missense	9/16	-	1
5-112151223-C-A	c.866C>A	p.A289D	Missense	9/16	-	1
5-112151223-C-G	c.866C>G	p.A289G	Missense	9/16	-	2
5-112151223-C-T	c.866C>T	p.A289V	Missense	9/16	-	9
5-112151224-C-T	c.867C>T	p.A289=	Synonymous	9/16	-	2
5-112151226-G-A	c.869G>A	p.S290N	Missense	9/16	-	2
5-112151226-G-C	c.869G>C	p.S290T	Missense	9/16	-	1
5-112151226-G-GC	c.869_870insC	p.V291Cfs*5	Frameshift	9/16	-	1
5-112151226-G-T	c.869G>T	p.S290I	Missense	9/16	-	1
5-112151226-G-GT	c.870dup	p.V291Cfs*5	Frameshift	9/16	-	1
5-112151227-GT-G	c.870del	p.S290Rfs*3	Frameshift	9/16	-	1
5-112151228-G-A	c.871G>A	p.V291I	Missense	9/16	-	2
5-112151228-G-T	c.871G>T	p.V291F	Missense	9/16	-	2
5-112151230-T-TAC	c.873_874insAC	p.L292Tfs*2	Frameshift	9/16	-	1
5-112151227-TGTTTTGA-T	c.874_880del	p.S293Vfs*10	Frameshift	9/16	-	1
5-112151231-T-G	c.874T>G	p.L292V	Missense	9/16	-	1
5-112151228-G-GT	c.875dup	p.L292Ffs*4	Frameshift	9/16	-	5
5-112151228-GT-G	c.875del	p.L292*	Frameshift	9/16	-	2
5-112151232-T-A	c.875T>A	p.L292*	Nonsense	9/16	-	4
5-112151233-G-C	c.876G>C	p.L292F	Missense	9/16	-	7
5-112151233-G-T	c.876G>T	p.L292F	Missense	9/16	-	5
5-112151235-AG-A	c.878del	p.S293Ifs*12	Frameshift	9/16	-	1
5-112151235-G-A	c.878G>A	p.S293N	Missense	9/16	-	1
5-112151235-G-C	c.878G>C	p.S293T	Missense	9/16	-	1
5-112151234-A-C	c.877A>C	p.S293R	Missense	9/16	-	2
5-112151236-T-A	c.879T>A	p.S293R	Missense	9/16	-	2
5-112151236-T-G	c.879T>G	p.S293R	Missense	9/16	-	2
5-112151235-GT-G	c.880del	p.S294Lfs*11	Frameshift	9/16	-	2
5-112151237-T-C	c.880T>C	p.S294P	Missense	9/16	-	2
5-112151237-TC-CG	c.880_881delinsCG	p.S294R	Missense	9/16	-	1
5-112151237-T-G	c.880T>G	p.S294A	Missense	9/16	-	1
5-112151238-C-A	c.881C>A	p.S294Y	Missense	9/16	-	3
5-112151238-C-T	c.881C>T	p.S294F	Missense	9/16	-	7
5-112151240-A-G	c.883A>G	p.S295G	Missense	9/16	-	5
5-112151240-AG-TA	c.883_884delinsTA	p.S295Y	Missense	9/16	-	1
5-112151240-AG-TT	c.883_884delinsTT	p.S295F	Missense	9/16	-	2
5-112151240-AGT-TGA	c.883_885delinsTGA	p.S295*	Nonsense	9/16	-	1
5-112151241-G-A	c.884G>A	p.S295N	Missense	9/16	-	5
5-112151241-G-T	c.884G>T	p.S295I	Missense	9/16	-	1
5-112151242-GT-G	c.885del	p.S295Rfs*10	Frameshift	9/16	-	1
5-112151243-A-C	c.886A>C	p.S296R	Missense	9/16	-	1
5-112151243-A-G	c.886A>G	p.S296G	Missense	9/16	-	1
5-112151244-G-A	c.887G>A	p.S296N	Missense	9/16	-	1
5-112151245-CAC-ATA	c.888_890delinsATA	p.S296_T297delinsR*	MultiAAMissense	9/16	-	1
5-112151245-C-CA	c.889dup	p.T297Nfs*30	Frameshift	9/16	-	1
5-112151246-ACA-TGT	c.889_891inv	p.T297C	Missense	9/16	-	1
5-112151246-A-G	c.889A>G	p.T297A	Missense	9/16	-	1
5-112151246-CA-C	c.889del	p.T297Hfs*8	Frameshift	9/16	-	1
5-112151247-C-T	c.890C>T	p.T297I	Missense	9/16	-	2
5-112151244-GCACA-G	c.891_894del	p.H298Lfs*6	Frameshift	9/16	-	1
5-112151247-C-CA	c.891dup	p.H298Tfs*29	Frameshift	9/16	-	1
5-112151249-CA-AC	c.892_893delinsAC	p.H298T	Missense	9/16	-	1
5-112151249-C-T	c.892C>T	p.H298Y	Missense	9/16	-	2
5-112151244-GCA-G	c.893_894del	p.H298Lfs*28	Frameshift	9/16	-	2
5-112151248-ACACT-A	c.893_896del	p.H298Lfs*6	Frameshift	9/16	-	2
5-112151250-CA-C	c.893del	p.H298Pfs*7	Frameshift	9/16	-	1
5-112151251-C-A	c.894C>A	p.H298Q	Missense	9/16	-	2
5-112151251-C-G	c.894C>G	p.H298Q	Missense	9/16	-	2
5-112151251-C-T	c.894C>T	p.H298=	Synonymous	9/16	-	1
5-112151252-T-A	c.895T>A	p.S299T	Missense	9/16	-	2
5-112151252-T-C	c.895T>C	p.S299P	Missense	9/16	-	1
5-112151252-TC-AA	c.895_896delinsAA	p.S299N	Missense	9/16	-	1
5-112151252-TC-CG	c.895_896delinsCG	p.S299R	Missense	9/16	-	1
5-112151252-TC-CT	c.895_896delinsCT	p.S299L	Missense	9/16	-	1
5-112151252-T-G	c.895T>G	p.S299A	Missense	9/16	-	2
5-112151250-ACT-A	c.896_897del	p.S299Cfs*27	Frameshift	9/16	-	3
5-112151253-C-G	c.896C>G	p.S299C	Missense	9/16	-	4
5-112151253-C-T	c.896C>T	p.S299F	Missense	9/16	-	1
5-112151253-CT-AA	c.896_897delinsAA	p.S299*	Nonsense	9/16	-	1
5-112151250-ACTCTGCAC-A	c.897_904del	p.A300Kfs*24	Frameshift	9/16	-	1
5-112151254-T-C	c.897T>C	p.S299=	Synonymous	9/16	-	1
5-112151255-G-A	c.898G>A	p.A300T	Missense	9/16	-	1
5-112151255-GC-AA	c.898_899delinsAA	p.A300K	Missense	9/16	-	10
5-112151255-GCA-TGT	c.898_900delinsTGT	p.A300C	Missense	9/16	-	1
5-112151256-C-A	c.899C>A	p.A300E	Missense	9/16	-	1
5-112151256-CA-AC	c.899_900delinsAC	p.A300D	Missense	9/16	-	1
5-112151256-C-G	c.899C>G	p.A300G	Missense	9/16	-	1
5-112151256-C-T	c.899C>T	p.A300V	Missense	9/16	-	4
5-112151258-ACC-A	c.901_902del	p.P301Sfs*25	Frameshift	9/16	-	1
5-112151258-C-T	c.901C>T	p.P301S	Missense	9/16	-	24
5-112151257-AC-A	c.902del	p.P301Lfs*4	Frameshift	9/16	-	1
5-112151259-C-A	c.902C>A	p.P301H	Missense	9/16	-	2
5-112151259-C-T	c.902C>T	p.P301L	Missense	9/16	-	31
5-112151260-T-A	c.903T>A	p.P301=	Synonymous	9/16	-	1
5-112151260-T-C	c.903T>C	p.P301=	Synonymous	9/16	-	1
5-112151260-T-G	c.903T>G	p.P301=	Synonymous	9/16	-	1
5-112151261-CG-AA	c.904_905delinsAA	p.R302K	Missense	9/16	-	1
5-112151261-CGA-TGG	c.904_906delinsTGG	p.R302W	Missense	9/16	-	1
5-112151261-CGA-TGT	c.904_906delinsTGT	p.R302C	Missense	9/16	-	1
5-112151261-CG-GT	c.904_905delinsGT	p.R302V	Missense	9/16	-	1
5-112151261-C-T	c.904C>T	p.R302*	Nonsense	9/16	-	66
5-112151262-G-A	c.905G>A	p.R302Q	Missense	9/16	-	8
5-112151262-GA-AT	c.905_906delinsAT	p.R302H	Missense	9/16	-	3
5-112151262-GA-G	c.907del	p.R303Gfs*2	Frameshift	9/16	-	2
5-112151264-AG-CA	c.907_908delinsCA	p.R303Q	Missense	9/16	-	1
5-112151264-AG-CC	c.907_908delinsCC	p.R303P	Missense	9/16	-	1
5-112151264-AG-GC	c.907_908delinsGC	p.R303A	Missense	9/16	-	1
5-112151264-AGG-CAT	c.907_909delinsCAT	p.R303H	Missense	9/16	-	1
5-112151264-AGG-TGT	c.907_909delinsTGT	p.R303C	Missense	9/16	-	1
5-112151264-AG-TA	c.907_908delinsTA	p.R303*	Nonsense	9/16	-	4
5-112151264-A-T	c.907A>T	p.R303W	Missense	9/16	-	1
5-112151265-G-A	c.908G>A	p.R303K	Missense	9/16	-	2
5-112151265-G-T	c.908G>T	p.R303M	Missense	9/16	-	1
5-112151268-T-G	c.911T>G	p.L304R	Missense	9/16	-	1
5-112151268-TG-AT	c.911_912delinsAT	p.L304H	Missense	9/16	-	1
5-112151269-G-A	c.912G>A	p.L304=	Synonymous	9/16	-	2
5-112151270-A-G	c.913A>G	p.T305A	Missense	9/16	-	1
5-112151271-C-A	c.914C>A	p.T305K	Missense	9/16	-	1
5-112151271-CA-TG	c.914_915inv	p.T305M	Missense	9/16	-	1
5-112151271-C-G	c.914C>G	p.T305R	Missense	9/16	-	1
5-112151272-A-G	c.915A>G	p.T305=	Synonymous	9/16	-	1
5-112151273-AG-GC	c.916_917delinsGC	p.S306A	Missense	9/16	-	1
5-112151273-A-T	c.916A>T	p.S306C	Missense	9/16	-	1
5-112151274-G-C	c.917G>C	p.S306T	Missense	9/16	-	1
5-112151273-A-C	c.916A>C	p.S306R	Missense	9/16	-	1
5-112151274-G-GT	c.918dup	p.H307Sfs*20	Frameshift	9/16	-	1
5-112151275-T-A	c.918T>A	p.S306R	Missense	9/16	-	2
5-112151275-T-G	c.918T>G	p.S306R	Missense	9/16	-	2
5-112151276-C-G	c.919C>G	p.H307D	Missense	9/16	-	1
5-112151276-C-T	c.919C>T	p.H307Y	Missense	9/16	-	2
5-112151276-TC-T	c.919del	p.H307Ifs*29	Frameshift	9/16	-	2
5-112151277-A-G	c.920A>G	p.H307R	Missense	9/16	-	2
5-112151278-T-C	c.921T>C	p.H307=	Synonymous	9/16	-	2
5-112151279-CTG-TGT	c.922_924delinsTGT	p.L308C	Missense	9/16	-	1
5-112151279-TC-T	c.922del	p.L308Wfs*28	Frameshift	9/16	-	1
5-112151280-T-G	c.923T>G	p.L308R	Missense	9/16	-	1
5-112151279-C-T	c.922C>T	p.L308=	Synonymous	9/16	-	3
5-112151281-G-A	c.924G>A	p.L308=	Synonymous	9/16	-	1
5-112151281-G-C	c.924G>C	p.L308=	Synonymous	9/16	-	1
5-112151281-G-T	c.924G>T	p.L308=	Synonymous	9/16	-	1
5-112151282-G-A	c.925G>A	p.G309R	Missense	9/16	-	1
5-112151282-G-C	c.925G>C	p.G309R	Missense	9/16	-	1
5-112151282-G-T	c.925G>T	p.G309*	Nonsense	9/16	-	5
5-112151280-TG-T	c.926del	p.G309Efs*27	Frameshift	9/16	-	1
5-112151283-G-A	c.926G>A	p.G309E	Missense	9/16	-	2
5-112151285-A-C	c.928A>C	p.T310P	Missense	9/16	-	1
5-112151285-A-G	c.928A>G	p.T310A	Missense	9/16	-	2
5-112151286-C-G	c.929C>G	p.T310S	Missense	9/16	-	1
5-112151286-C-T	c.929C>T	p.T310I	Missense	9/16	-	2
5-112151285-A-AC	c.930dup	p.K311Qfs*16	Frameshift	9/16	-	1
5-112151287-C-G	c.930C>G	p.T310=	Synonymous	9/16	-	1
5-112151288-AA-CT	c.931_932delinsCT	p.K311L	Missense	9/16	-	1
5-112151288-AA-GC	c.931_932delinsGC	p.K311A	Missense	9/16	-	1
5-112151288-A-T	c.931A>T	p.K311*	Nonsense	9/16	-	1
5-112151289-A-G	c.932A>G	p.K311R	Missense	9/16	-	1
5-112151290-G-A	c.933G>A	p.K311=	Synonymous	9/16	-	2
5-112151290-G-C	c.933G>C	p.K311N	Missense	9/16	-	6
5-112151290-G-T	c.933G>T	p.K311N	Missense	9/16	-	5
5-112151289-AG-A	c.933+1del	-	IntronicDeletion	-	9/15	1
5-112151291-G-A	c.933+1G>A	-	IntronicSNV	-	9/15	5
5-112151291-G-C	c.933+1G>C	-	IntronicSNV	-	9/15	1
5-112151291-GGT-G	c.933+1_933+2del	-	SpliceDonorDeletion	-	9/15	1
5-112151291-G-T	c.933+1G>T	-	IntronicSNV	-	9/15	1
5-112151292-T-C	c.933+2T>C	-	IntronicSNV	-	9/15	3
5-112151316-TCAC-T	c.933+26_933+28del	-	IntronicDeletion	-	9/15	1
5-112151320-A-G	c.933+30A>G	-	IntronicSNV	-	9/15	2
5-112151358-T-C	c.933+68T>C	-	IntronicSNV	-	9/15	1
5-112151371-A-G	c.933+81A>G	-	IntronicSNV	-	9/15	1
5-112151387-T-C	c.933+97T>C	-	IntronicSNV	-	9/15	3
5-112151404-A-G	c.933+114A>G	-	IntronicSNV	-	9/15	1
5-112151415-T-C	c.933+125T>C	-	IntronicSNV	-	9/15	1
5-112151421-C-T	c.933+131C>T	-	IntronicSNV	-	9/15	1
5-112151551-G-T	c.933+261G>T	-	IntronicSNV	-	9/15	4
5-112151734-C-T	c.933+444C>T	-	IntronicSNV	-	9/15	1
5-112152119-A-G	c.933+829A>G	-	IntronicSNV	-	9/15	1
5-112152320-G-A	c.933+1030G>A	-	IntronicSNV	-	9/15	1
5-112152496-A-G	c.933+1206A>G	-	IntronicSNV	-	9/15	1
5-112153119-C-T	c.934-1544C>T	-	IntronicSNV	-	9/15	1
5-112153495-A-G	c.934-1168A>G	-	IntronicSNV	-	9/15	1
5-112153665-C-T	c.934-998C>T	-	IntronicSNV	-	9/15	2
5-112153861-C-A	c.934-802C>A	-	IntronicSNV	-	9/15	1
5-112153861-C-T	c.934-802C>T	-	IntronicSNV	-	9/15	1
5-112153996-C-A	c.934-667C>A	-	IntronicSNV	-	9/15	2
5-112153996-C-G	c.934-667C>G	-	IntronicSNV	-	9/15	2
5-112154004-G-A	c.934-659G>A	-	IntronicSNV	-	9/15	1
5-112154303-T-G	c.934-360T>G	-	IntronicSNV	-	9/15	2
5-112154531-G-T	c.934-132G>T	-	IntronicSNV	-	9/15	4
5-112154543-G-C	c.934-120G>C	-	IntronicSNV	-	9/15	1
5-112154543-G-T	c.934-120G>T	-	IntronicSNV	-	9/15	1
5-112154544-C-G	c.934-119C>G	-	IntronicSNV	-	9/15	1
5-112154544-C-T	c.934-119C>T	-	IntronicSNV	-	9/15	1
5-112154553-T-G	c.934-110T>G	-	IntronicSNV	-	9/15	1
5-112154571-G-C	c.934-92G>C	-	IntronicSNV	-	9/15	2
5-112154663-G-A	c.934G>A	p.V312M	Missense	10/16	-	2
5-112154663-GGTGGAAATGGTGTATTCATTGTTGTCAATGCTTGGTACTCATGATAAGGATGATATGTC-G	c.935_993del	p.V312Afs*8	InFrameDeletion	10/16	-	1
5-112154663-G-GT	c.935dup	p.E313Gfs*14	SpliceAcceptorInsertion	10/16	-	2
5-112154664-T-A	c.935T>A	p.V312E	Missense	10/16	-	1
5-112154664-T-C	c.935T>C	p.V312A	Missense	10/16	-	2
5-112154664-T-G	c.935T>G	p.V312G	Missense	10/16	-	2
5-112154665-G-A	c.936G>A	p.V312=	Synonymous	10/16	-	1
5-112154665-G-C	c.936G>C	p.V312=	Synonymous	10/16	-	1
5-112154665-G-T	c.936G>T	p.V312=	Synonymous	10/16	-	1
5-112154666-G-A	c.937G>A	p.E313K	Missense	10/16	-	9
5-112154666-GAA-ATG	c.937_939delinsATG	p.E313M	Missense	10/16	-	1
5-112154666-GAA-TGG	c.937_939delinsTGG	p.E313W	Missense	10/16	-	1
5-112154666-G-C	c.937G>C	p.E313Q	Missense	10/16	-	1
5-112154666-GGA-G	c.937_938del	p.E313Nfs*13	Frameshift	10/16	-	1
5-112154668-A-G	c.939A>G	p.E313=	Synonymous	10/16	-	1
5-112154666-GA-G	c.940del	p.M314Wfs*22	Frameshift	10/16	-	3
5-112154666-G-GA	c.940dup	p.M314Nfs*13	Frameshift	10/16	-	1
5-112154669-A-C	c.940A>C	p.M314L	Missense	10/16	-	1
5-112154669-A-T	c.940A>T	p.M314L	Missense	10/16	-	1
5-112154669-AT-TA	c.940_941delinsTA	p.M314*	Nonsense	10/16	-	2
5-112154671-G-A	c.942G>A	p.M314I	Missense	10/16	-	3
5-112154671-G-C	c.942G>C	p.M314I	Missense	10/16	-	2
5-112154671-G-T	c.942G>T	p.M314I	Missense	10/16	-	3
5-112154672-G-A	c.943G>A	p.V315M	Missense	10/16	-	3
5-112154672-GT-TA	c.943_944delinsTA	p.V315*	Nonsense	10/16	-	1
5-112154673-T-C	c.944T>C	p.V315A	Missense	10/16	-	1
5-112154677-T-G	c.948T>G	p.Y316*	Nonsense	10/16	-	1
5-112154678-T-A	c.949T>A	p.S317T	Missense	10/16	-	1
5-112154678-T-C	c.949T>C	p.S317P	Missense	10/16	-	4
5-112154678-TCA-AAC	c.949_951delinsAAC	p.S317N	Missense	10/16	-	1
5-112154679-C-A	c.950C>A	p.S317*	Nonsense	10/16	-	3
5-112154679-CA-GT	c.950_951delinsGT	p.S317C	Missense	10/16	-	1
5-112154679-C-G	c.950C>G	p.S317*	Nonsense	10/16	-	2
5-112154679-C-T	c.950C>T	p.S317L	Missense	10/16	-	1
5-112154680-A-C	c.951A>C	p.S317=	Synonymous	10/16	-	1
5-112154680-A-G	c.951A>G	p.S317=	Synonymous	10/16	-	1
5-112154681-T-G	c.952T>G	p.L318V	Missense	10/16	-	1
5-112154681-TT-CC	c.952_953delinsCC	p.L318P	Missense	10/16	-	1
5-112154680-A-AT	c.953dup	p.L318Ffs*9	Frameshift	10/16	-	1
5-112154682-T-C	c.953T>C	p.L318S	Missense	10/16	-	1
5-112154683-G-T	c.954G>T	p.L318F	Missense	10/16	-	1
5-112154684-T-A	c.955T>A	p.L319M	Missense	10/16	-	1
5-112154684-T-C	c.955T>C	p.L319=	Synonymous	10/16	-	1
5-112154684-TT-AG	c.955_956delinsAG	p.L319R	Missense	10/16	-	1
5-112154686-G-A	c.957G>A	p.L319=	Synonymous	10/16	-	1
5-112154683-GT-G	c.956del	p.L319Cfs*17	Frameshift	10/16	-	2
5-112154685-T-C	c.956T>C	p.L319S	Missense	10/16	-	1
5-112154687-TC-AG	c.958_959delinsAG	p.S320R	Missense	10/16	-	1
5-112154687-T-G	c.958T>G	p.S320A	Missense	10/16	-	1
5-112154688-C-A	c.959C>A	p.S320*	Nonsense	10/16	-	5
5-112154688-CA-AT	c.959_960delinsAT	p.S320Y	Missense	10/16	-	1
5-112154688-CA-TT	c.959_960delinsTT	p.S320F	Missense	10/16	-	2
5-112154688-C-G	c.959C>G	p.S320*	Nonsense	10/16	-	8
5-112154689-A-C	c.960A>C	p.S320=	Synonymous	10/16	-	1
5-112154689-A-G	c.960A>G	p.S320=	Synonymous	10/16	-	1
5-112154689-A-T	c.960A>T	p.S320=	Synonymous	10/16	-	1
5-112154690-A-AT	c.962dup	p.M321Ifs*6	Frameshift	10/16	-	1
5-112154691-T-C	c.962T>C	p.M321T	Missense	10/16	-	1
5-112154691-TG-GC	c.962_963delinsGC	p.M321S	Missense	10/16	-	5
5-112154692-G-A	c.963G>A	p.M321I	Missense	10/16	-	1
5-112154692-G-C	c.963G>C	p.M321I	Missense	10/16	-	1
5-112154692-G-T	c.963G>T	p.M321I	Missense	10/16	-	1
5-112154693-CT-GC	c.964_965delinsGC	p.L322A	Missense	10/16	-	1
5-112154694-T-G	c.965T>G	p.L322R	Missense	10/16	-	1
5-112154696-G-A	c.967G>A	p.G323S	Missense	10/16	-	1
5-112154696-G-C	c.967G>C	p.G323R	Missense	10/16	-	1
5-112154696-GGT-TGG	c.967_969delinsTGG	p.G323W	Missense	10/16	-	1
5-112154696-G-T	c.967G>T	p.G323C	Missense	10/16	-	2
5-112154697-G-C	c.968G>C	p.G323A	Missense	10/16	-	1
5-112154697-G-T	c.968G>T	p.G323V	Missense	10/16	-	1
5-112154697-GT-AG	c.968_969delinsAG	p.G323E	Missense	10/16	-	1
5-112154698-T-A	c.969T>A	p.G323=	Synonymous	10/16	-	1
5-112154698-T-C	c.969T>C	p.G323=	Synonymous	10/16	-	1
5-112154698-T-G	c.969T>G	p.G323=	Synonymous	10/16	-	1
5-112154699-A-C	c.970A>C	p.T324P	Missense	10/16	-	1
5-112154700-C-T	c.971C>T	p.T324I	Missense	10/16	-	2
5-112154701-T-A	c.972T>A	p.T324=	Synonymous	10/16	-	1
5-112154701-T-C	c.972T>C	p.T324=	Synonymous	10/16	-	1
5-112154701-T-G	c.972T>G	p.T324=	Synonymous	10/16	-	1
5-112154702-C-A	c.973C>A	p.H325N	Missense	10/16	-	1
5-112154702-C-T	c.973C>T	p.H325Y	Missense	10/16	-	3
5-112154702-TC-T	c.973del	p.H325Mfs*11	Frameshift	10/16	-	1
5-112154702-C-CA	c.974dup	p.H325Qfs*2	Frameshift	10/16	-	1
5-112154703-A-G	c.974A>G	p.H325R	Missense	10/16	-	1
5-112154704-T-C	c.975T>C	p.H325=	Synonymous	10/16	-	1
5-112154705-G-A	c.976G>A	p.D326N	Missense	10/16	-	2
5-112154705-G-C	c.976G>C	p.D326H	Missense	10/16	-	2
5-112154705-G-T	c.976G>T	p.D326Y	Missense	10/16	-	2
5-112154706-A-C	c.977A>C	p.D326A	Missense	10/16	-	2
5-112154706-A-G	c.977A>G	p.D326G	Missense	10/16	-	1
5-112154706-A-T	c.977A>T	p.D326V	Missense	10/16	-	1
5-112154706-A-AT	c.978dup	p.K327*	Nonsense	10/16	-	3
5-112154708-AA-GC	c.979_980delinsGC	p.K327A	Missense	10/16	-	1
5-112154708-A-C	c.979A>C	p.K327Q	Missense	10/16	-	1
5-112154709-A-G	c.980A>G	p.K327R	Missense	10/16	-	1
5-112154709-A-T	c.980A>T	p.K327M	Missense	10/16	-	1
5-112154710-G-C	c.981G>C	p.K327N	Missense	10/16	-	1
5-112154710-G-T	c.981G>T	p.K327N	Missense	10/16	-	1
5-112154709-AG-A	c.982del	p.D328Mfs*8	Frameshift	10/16	-	4
5-112154711-G-A	c.982G>A	p.D328N	Missense	10/16	-	4
5-112154711-G-T	c.982G>T	p.D328Y	Missense	10/16	-	6
5-112154713-AT-A	c.984del	p.D328Efs*8	Frameshift	10/16	-	1
5-112154713-T-A	c.984T>A	p.D328E	Missense	10/16	-	1
5-112154713-T-C	c.984T>C	p.D328=	Synonymous	10/16	-	1
5-112154713-T-G	c.984T>G	p.D328E	Missense	10/16	-	1
5-112154714-G-A	c.985G>A	p.D329N	Missense	10/16	-	1
5-112154714-G-T	c.985G>T	p.D329Y	Missense	10/16	-	1
5-112154716-T-C	c.987T>C	p.D329=	Synonymous	10/16	-	1
5-112154717-A-C	c.988A>C	p.M330L	Missense	10/16	-	1
5-112154718-AT-A	c.989del	p.M330Sfs*6	Frameshift	10/16	-	1
5-112154719-G-A	c.990G>A	p.M330I	Missense	10/16	-	2
5-112154719-G-C	c.990G>C	p.M330I	Missense	10/16	-	2
5-112154719-G-T	c.990G>T	p.M330I	Missense	10/16	-	2
5-112154720-T-C	c.991T>C	p.S331P	Missense	10/16	-	2
5-112154720-TC-GA	c.991_992inv	p.S331E	Missense	10/16	-	1
5-112154720-TC-GG	c.991_992delinsGG	p.S331G	Missense	10/16	-	1
5-112154720-T-G	c.991T>G	p.S331A	Missense	10/16	-	2
5-112154721-C-A	c.992C>A	p.S331*	Nonsense	10/16	-	1
5-112154721-CG-GT	c.992_993delinsGT	p.S331C	Missense	10/16	-	2
5-112154721-CG-TT	c.992_993delinsTT	p.S331F	Missense	10/16	-	1
5-112154721-C-T	c.992C>T	p.S331L	Missense	10/16	-	5
5-112154722-G-A	c.993G>A	p.S331=	Synonymous	10/16	-	7
5-112154722-G-C	c.993G>C	p.S331=	Synonymous	10/16	-	6
5-112154722-G-T	c.993G>T	p.S331=	Synonymous	10/16	-	6
5-112154723-CGA-TGG	c.994_996delinsTGG	p.R332W	Missense	10/16	-	1
5-112154723-C-T	c.994C>T	p.R332*	Nonsense	10/16	-	44
5-112154723-C-CG	c.995dup	p.T333Nfs*7	Frameshift	10/16	-	1
5-112154724-CG-C	c.995del	p.R332Qfs*4	Frameshift	10/16	-	1
5-112154724-G-A	c.995G>A	p.R332Q	Missense	10/16	-	13
5-112154724-G-T	c.995G>T	p.R332L	Missense	10/16	-	3
5-112154725-A-G	c.996A>G	p.R332=	Synonymous	10/16	-	1
5-112154724-GA-G	c.997del	p.T333Lfs*3	Frameshift	10/16	-	1
5-112154726-A-C	c.997A>C	p.T333P	Missense	10/16	-	1
5-112154726-A-G	c.997A>G	p.T333A	Missense	10/16	-	2
5-112154727-C-A	c.998C>A	p.T333N	Missense	10/16	-	1
5-112154727-C-T	c.998C>T	p.T333I	Missense	10/16	-	1
5-112154728-T-A	c.999T>A	p.T333=	Synonymous	10/16	-	1
5-112154728-T-C	c.999T>C	p.T333=	Synonymous	10/16	-	1
5-112154728-T-G	c.999T>G	p.T333=	Synonymous	10/16	-	1
5-112154729-T-C	c.1000T>C	p.L334=	Synonymous	10/16	-	1
5-112154729-TT-GC	c.1000_1001delinsGC	p.L334A	Missense	10/16	-	2
5-112154731-G-A	c.1002G>A	p.L334=	Synonymous	10/16	-	1
5-112154732-C-T	c.1003C>T	p.L335=	Synonymous	10/16	-	3
5-112154732-CTA-TTT	c.1003_1005delinsTTT	p.L335F	Missense	10/16	-	1
5-112154732-GCTAGCTATGTCTA-G	c.1003_1015del	p.L335Afs*115	Frameshift	10/16	-	1
5-112154733-T-A	c.1004T>A	p.L335Q	Missense	10/16	-	1
5-112154733-T-G	c.1004T>G	p.L335R	Missense	10/16	-	1
5-112154734-A-C	c.1005A>C	p.L335=	Synonymous	10/16	-	8
5-112154734-A-G	c.1005A>G	p.L335=	Synonymous	10/16	-	11
5-112154734-A-T	c.1005A>T	p.L335=	Synonymous	10/16	-	2
5-112154735-G-C	c.1006G>C	p.A336P	Missense	10/16	-	1
5-112154735-G-T	c.1006G>T	p.A336S	Missense	10/16	-	1
5-112154736-C-A	c.1007C>A	p.A336D	Missense	10/16	-	3
5-112154736-C-G	c.1007C>G	p.A336G	Missense	10/16	-	1
5-112154736-C-CT	c.1008dup	p.M337Yfs*3	Frameshift	10/16	-	1
5-112154737-T-A	c.1008T>A	p.A336=	Synonymous	10/16	-	1
5-112154737-T-C	c.1008T>C	p.A336=	Synonymous	10/16	-	1
5-112154737-T-G	c.1008T>G	p.A336=	Synonymous	10/16	-	1
5-112154738-A-G	c.1009A>G	p.M337V	Missense	10/16	-	1
5-112154738-AT-GG	c.1009_1010delinsGG	p.M337G	Missense	10/16	-	1
5-112154739-T-C	c.1010T>C	p.M337T	Missense	10/16	-	4
5-112154740-G-A	c.1011G>A	p.M337I	Missense	10/16	-	4
5-112154740-G-C	c.1011G>C	p.M337I	Missense	10/16	-	4
5-112154740-G-T	c.1011G>T	p.M337I	Missense	10/16	-	4
5-112154741-TC-CT	c.1012_1013delinsCT	p.S338L	Missense	10/16	-	1
5-112154740-GTC-G	c.1013_1014del	p.S338*	Frameshift	10/16	-	1
5-112154742-C-A	c.1013C>A	p.S338Y	Missense	10/16	-	1
5-112154742-C-G	c.1013C>G	p.S338C	Missense	10/16	-	1
5-112154742-C-T	c.1013C>T	p.S338F	Missense	10/16	-	2
5-112154742-CT-AA	c.1013_1014delinsAA	p.S338*	Nonsense	10/16	-	1
5-112154743-T-C	c.1014T>C	p.S338=	Synonymous	10/16	-	1
5-112154744-AGC-TGA	c.1015_1017delinsTGA	p.S339*	Nonsense	10/16	-	1
5-112154744-AG-GC	c.1015_1016delinsGC	p.S339A	Missense	10/16	-	1
5-112154744-AG-TT	c.1015_1016delinsTT	p.S339F	Missense	10/16	-	1
5-112154744-TAGC-T	c.1015_1017del	p.S340del	InFrameDeletion	10/16	-	1
5-112154745-G-A	c.1016G>A	p.S339N	Missense	10/16	-	3
5-112154744-A-C	c.1015A>C	p.S339R	Missense	10/16	-	1
5-112154746-C-A	c.1017C>A	p.S339R	Missense	10/16	-	1
5-112154746-C-G	c.1017C>G	p.S339R	Missense	10/16	-	1
5-112154747-T-A	c.1018T>A	p.S340T	Missense	10/16	-	2
5-112154747-T-C	c.1018T>C	p.S340P	Missense	10/16	-	1
5-112154747-TC-CG	c.1018_1019delinsCG	p.S340R	Missense	10/16	-	1
5-112154747-TC-CT	c.1018_1019delinsCT	p.S340L	Missense	10/16	-	1
5-112154747-T-G	c.1018T>G	p.S340A	Missense	10/16	-	1
5-112154748-C-A	c.1019C>A	p.S340Y	Missense	10/16	-	1
5-112154748-C-T	c.1019C>T	p.S340F	Missense	10/16	-	3
5-112154750-C-T	c.1021C>T	p.Q341*	Nonsense	10/16	-	4
5-112154751-A-C	c.1022A>C	p.Q341P	Missense	10/16	-	1
5-112154751-A-G	c.1022A>G	p.Q341R	Missense	10/16	-	2
5-112154751-A-T	c.1022A>T	p.Q341L	Missense	10/16	-	1
5-112154752-A-G	c.1023A>G	p.Q341=	Synonymous	10/16	-	1
5-112154753-G-A	c.1024G>A	p.D342N	Missense	10/16	-	3
5-112154756-AGC-TGA	c.1027_1029delinsTGA	p.S343*	Nonsense	10/16	-	1
5-112154756-AG-TA	c.1027_1028delinsTA	p.S343Y	Missense	10/16	-	1
5-112154757-G-A	c.1028G>A	p.S343N	Missense	10/16	-	1
5-112154758-C-A	c.1029C>A	p.S343R	Missense	10/16	-	1
5-112154758-C-CT	c.1030dup	p.C344Lfs*21	Frameshift	10/16	-	1
5-112154759-TG-AC	c.1030_1031delinsAC	p.C344T	Missense	10/16	-	1
5-112154760-G-A	c.1031G>A	p.C344Y	Missense	10/16	-	2
5-112154762-A-G	c.1033A>G	p.I345V	Missense	10/16	-	1
5-112154763-T-C	c.1034T>C	p.I345T	Missense	10/16	-	1
5-112154764-A-C	c.1035A>C	p.I345=	Synonymous	10/16	-	1
5-112154764-A-T	c.1035A>T	p.I345=	Synonymous	10/16	-	1
5-112154765-TC-CG	c.1036_1037delinsCG	p.S346R	Missense	10/16	-	1
5-112154765-TC-CT	c.1036_1037delinsCT	p.S346L	Missense	10/16	-	2
5-112154766-C-A	c.1037C>A	p.S346Y	Missense	10/16	-	2
5-112154766-C-G	c.1037C>G	p.S346C	Missense	10/16	-	1
5-112154767-C-A	c.1038C>A	p.S346=	Synonymous	10/16	-	2
5-112154767-C-G	c.1038C>G	p.S346=	Synonymous	10/16	-	2
5-112154767-C-T	c.1038C>T	p.S346=	Synonymous	10/16	-	2
5-112154770-G-A	c.1041G>A	p.M347I	Missense	10/16	-	1
5-112154770-G-C	c.1041G>C	p.M347I	Missense	10/16	-	1
5-112154770-G-T	c.1041G>T	p.M347I	Missense	10/16	-	1
5-112154771-C-A	c.1042C>A	p.R348=	Synonymous	10/16	-	1
5-112154771-C-G	c.1042C>G	p.R348G	Missense	10/16	-	1
5-112154771-CG-AA	c.1042_1043delinsAA	p.R348K	Missense	10/16	-	1
5-112154771-CGA-TGT	c.1042_1044delinsTGT	p.R348C	Missense	10/16	-	1
5-112154771-CG-GC	c.1042_1043delinsGC	p.R348A	Missense	10/16	-	1
5-112154771-C-T	c.1042C>T	p.R348*	Nonsense	10/16	-	26
5-112154773-A-C	c.1044A>C	p.R348=	Synonymous	10/16	-	1
5-112154773-A-T	c.1044A>T	p.R348=	Synonymous	10/16	-	1
5-112154772-G-A	c.1043G>A	p.R348Q	Missense	10/16	-	6
5-112154773-A-G	c.1044A>G	p.R348=	Synonymous	10/16	-	2
5-112154774-C-T	c.1045C>T	p.Q349*	Nonsense	10/16	-	1
5-112154775-A-G	c.1046A>G	p.Q349R	Missense	10/16	-	1
5-112154777-GTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATT-G	c.1048_1106del	p.S350Vfs*8	Frameshift	10/16	-	1
5-112154777-T-A	c.1048T>A	p.S350T	Missense	10/16	-	1
5-112154777-T-C	c.1048T>C	p.S350P	Missense	10/16	-	2
5-112154777-TC-CT	c.1048_1049delinsCT	p.S350L	Missense	10/16	-	1
5-112154777-T-G	c.1048T>G	p.S350A	Missense	10/16	-	1
5-112154778-C-G	c.1049C>G	p.S350C	Missense	10/16	-	1
5-112154780-G-A	c.1051G>A	p.G351R	Missense	10/16	-	3
5-112154780-G-C	c.1051G>C	p.G351R	Missense	10/16	-	3
5-112154780-GGA-TGG	c.1051_1053delinsTGG	p.G351W	Missense	10/16	-	1
5-112154780-G-T	c.1051G>T	p.G351*	Nonsense	10/16	-	5
5-112154781-G-A	c.1052G>A	p.G351E	Missense	10/16	-	1
5-112154781-G-C	c.1052G>C	p.G351A	Missense	10/16	-	1
5-112154781-G-T	c.1052G>T	p.G351V	Missense	10/16	-	5
5-112154783-TG-AC	c.1054_1055delinsAC	p.C352T	Missense	10/16	-	1
5-112154783-TG-AT	c.1054_1055delinsAT	p.C352I	Missense	10/16	-	1
5-112154784-G-A	c.1055G>A	p.C352Y	Missense	10/16	-	1
5-112154784-G-C	c.1055G>C	p.C352S	Missense	10/16	-	1
5-112154784-G-T	c.1055G>T	p.C352F	Missense	10/16	-	1
5-112154786-C-A	c.1057C>A	p.L353I	Missense	10/16	-	1
5-112154786-C-G	c.1057C>G	p.L353V	Missense	10/16	-	1
5-112154786-C-T	c.1057C>T	p.L353F	Missense	10/16	-	1
5-112154786-CT-GC	c.1057_1058delinsGC	p.L353A	Missense	10/16	-	1
5-112154786-CTT-ATG	c.1057_1059delinsATG	p.L353M	Missense	10/16	-	1
5-112154786-TCTTCCTCTCCTC-T	c.1057_1068del	p.L353_L356del	InFrameDeletion	10/16	-	1
5-112154787-T-C	c.1058T>C	p.L353P	Missense	10/16	-	2
5-112154786-C-CT	c.1059dup	p.P354Sfs*11	Frameshift	10/16	-	1
5-112154787-T-TTAAGGATGATA	c.1059_1060insAAGGATGATAT	p.P354Kfs*104	Frameshift	10/16	-	1
5-112154789-C-CA	c.1060_1061insA	p.P354Hfs*11	Frameshift	10/16	-	1
5-112154789-C-G	c.1060C>G	p.P354A	Missense	10/16	-	1
5-112154789-C-T	c.1060C>T	p.P354S	Missense	10/16	-	1
5-112154790-C-A	c.1061C>A	p.P354H	Missense	10/16	-	1
5-112154790-C-T	c.1061C>T	p.P354L	Missense	10/16	-	3
5-112154790-CT-AA	c.1061_1062delinsAA	p.P354Q	Missense	10/16	-	1
5-112154792-C-T	c.1063C>T	p.L355F	Missense	10/16	-	2
5-112154795-C-A	c.1066C>A	p.L356I	Missense	10/16	-	2
5-112154795-C-G	c.1066C>G	p.L356V	Missense	10/16	-	2
5-112154795-C-T	c.1066C>T	p.L356F	Missense	10/16	-	7
5-112154794-CCT-C	c.1067_1068del	p.L356Hfs*8	Frameshift	10/16	-	1
5-112154796-T-C	c.1067T>C	p.L356P	Missense	10/16	-	1
5-112154797-C-T	c.1068C>T	p.L356=	Synonymous	10/16	-	1
5-112154795-CTCA-C	c.1069_1071del	p.I357del	InFrameDeletion	10/16	-	1
5-112154797-C-CA	c.1069dup	p.I357Nfs*8	Frameshift	10/16	-	2
5-112154798-A-G	c.1069A>G	p.I357V	Missense	10/16	-	2
5-112154799-T-C	c.1070T>C	p.I357T	Missense	10/16	-	1
5-112154797-CATCCAGCTTTTACATGGCAATGACAAAGACTCTGT-C	c.1071_1105del	p.Q358Vfs*8	Frameshift	10/16	-	1
5-112154800-C-A	c.1071C>A	p.I357=	Synonymous	10/16	-	1
5-112154800-C-T	c.1071C>T	p.I357=	Synonymous	10/16	-	1
5-112154801-C-A	c.1072C>A	p.Q358K	Missense	10/16	-	1
5-112154801-C-G	c.1072C>G	p.Q358E	Missense	10/16	-	1
5-112154801-C-T	c.1072C>T	p.Q358*	Nonsense	10/16	-	5
5-112154800-CCAG-C	c.1073_1075del	p.Q358del	InFrameDeletion	10/16	-	1
5-112154802-A-G	c.1073A>G	p.Q358R	Missense	10/16	-	2
5-112154804-C-A	c.1075C>A	p.L359I	Missense	10/16	-	1
5-112154804-C-G	c.1075C>G	p.L359V	Missense	10/16	-	1
5-112154807-TT-CC	c.1078_1079delinsCC	p.L360P	Missense	10/16	-	1
5-112154808-T-A	c.1079T>A	p.L360*	Nonsense	10/16	-	5
5-112154808-T-G	c.1079T>G	p.L360*	Nonsense	10/16	-	6
5-112154808-TAC-T	c.1081_1082del	p.H361Wfs*3	Frameshift	10/16	-	3
5-112154810-C-A	c.1081C>A	p.H361N	Missense	10/16	-	1
5-112154810-C-G	c.1081C>G	p.H361D	Missense	10/16	-	1
5-112154810-C-T	c.1081C>T	p.H361Y	Missense	10/16	-	2
5-112154811-CA-C	c.1082del	p.H361Lfs*93	Frameshift	10/16	-	1
5-112154809-ACATGG-A	c.1083_1087del	p.H361Qfs*2	Frameshift	10/16	-	1
5-112154811-A-AT	c.1083dup	p.G362Wfs*3	Frameshift	10/16	-	1
5-112154812-T-A	c.1083T>A	p.H361Q	Missense	10/16	-	4
5-112154812-T-C	c.1083T>C	p.H361=	Synonymous	10/16	-	1
5-112154812-T-G	c.1083T>G	p.H361Q	Missense	10/16	-	2
5-112154813-G-A	c.1084G>A	p.G362S	Missense	10/16	-	1
5-112154814-G-A	c.1085G>A	p.G362D	Missense	10/16	-	4
5-112154815-C-T	c.1086C>T	p.G362=	Synonymous	10/16	-	1
5-112154816-AA-GC	c.1087_1088delinsGC	p.N363A	Missense	10/16	-	2
5-112154817-A-G	c.1088A>G	p.N363S	Missense	10/16	-	4
5-112154818-T-A	c.1089T>A	p.N363K	Missense	10/16	-	1
5-112154818-T-C	c.1089T>C	p.N363=	Synonymous	10/16	-	1
5-112154818-T-G	c.1089T>G	p.N363K	Missense	10/16	-	2
5-112154819-G-A	c.1090G>A	p.D364N	Missense	10/16	-	6
5-112154819-G-C	c.1090G>C	p.D364H	Missense	10/16	-	1
5-112154820-A-G	c.1091A>G	p.D364G	Missense	10/16	-	1
5-112154821-C-T	c.1092C>T	p.D364=	Synonymous	10/16	-	1
5-112154822-AA-GC	c.1093_1094delinsGC	p.K365A	Missense	10/16	-	2
5-112154822-A-T	c.1093A>T	p.K365*	Nonsense	10/16	-	1
5-112154824-A-C	c.1095A>C	p.K365N	Missense	10/16	-	1
5-112154824-A-T	c.1095A>T	p.K365N	Missense	10/16	-	1
5-112154825-G-A	c.1096G>A	p.D366N	Missense	10/16	-	3
5-112154825-G-C	c.1096G>C	p.D366H	Missense	10/16	-	1
5-112154825-G-T	c.1096G>T	p.D366Y	Missense	10/16	-	3
5-112154826-A-C	c.1097A>C	p.D366A	Missense	10/16	-	1
5-112154827-C-T	c.1098C>T	p.D366=	Synonymous	10/16	-	1
5-112154828-TC-CG	c.1099_1100delinsCG	p.S367R	Missense	10/16	-	1
5-112154828-TC-CT	c.1099_1100delinsCT	p.S367L	Missense	10/16	-	1
5-112154828-TC-GG	c.1099_1100delinsGG	p.S367G	Missense	10/16	-	2
5-112154826-ACT-A	c.1100_1101del	p.S367Cfs*10	Frameshift	10/16	-	3
5-112154829-C-G	c.1100C>G	p.S367C	Missense	10/16	-	1
5-112154829-TC-T	c.1100del	p.S367Lfs*87	Frameshift	10/16	-	1
5-112154830-CT-C	c.1101del	p.V368Yfs*86	Frameshift	10/16	-	1
5-112154829-CTG-C	c.1102_1103del	p.V368Ifs*9	Frameshift	10/16	-	2
5-112154830-T-TG	c.1102dup	p.V368Gfs*10	Frameshift	10/16	-	1
5-112154831-G-A	c.1102G>A	p.V368I	Missense	10/16	-	1
5-112154832-T-C	c.1103T>C	p.V368A	Missense	10/16	-	1
5-112154833-TA-T	c.1104del	p.L369Cfs*85	Frameshift	10/16	-	1
5-112154834-TT-AG	c.1105_1106delinsAG	p.L369R	Missense	10/16	-	1
5-112154835-T-A	c.1106T>A	p.L369*	Nonsense	10/16	-	1
5-112154836-G-T	c.1107G>T	p.L369F	Missense	10/16	-	2
5-112154837-T-G	c.1108T>G	p.L370V	Missense	10/16	-	1
5-112154837-TTG-ATC	c.1108_1110delinsATC	p.L370I	Missense	10/16	-	1
5-112154838-T-C	c.1109T>C	p.L370S	Missense	10/16	-	1
5-112154839-G-C	c.1110G>C	p.L370F	Missense	10/16	-	1
5-112154839-G-T	c.1110G>T	p.L370F	Missense	10/16	-	1
5-112154840-G-A	c.1111G>A	p.G371R	Missense	10/16	-	1
5-112154840-G-C	c.1111G>C	p.G371R	Missense	10/16	-	2
5-112154840-G-GT	c.1111_1112insT	p.G371Vfs*7	Frameshift	10/16	-	1
5-112154840-G-T	c.1111G>T	p.G371*	Nonsense	10/16	-	3
5-112154838-TG-T	c.1112del	p.G371Efs*83	Frameshift	10/16	-	1
5-112154838-T-TG	c.1112dup	p.N372Kfs*6	Frameshift	10/16	-	1
5-112154841-G-A	c.1112G>A	p.G371E	Missense	10/16	-	8
5-112154841-G-T	c.1112G>T	p.G371V	Missense	10/16	-	1
5-112154842-A-T	c.1113A>T	p.G371=	Synonymous	10/16	-	2
5-112154843-A-C	c.1114A>C	p.N372H	Missense	10/16	-	3
5-112154843-A-G	c.1114A>G	p.N372D	Missense	10/16	-	2
5-112154843-A-T	c.1114A>T	p.N372Y	Missense	10/16	-	1
5-112154841-GA-G	c.1115del	p.N372Ifs*82	Frameshift	10/16	-	1
5-112154841-G-GA	c.1115dup	p.N372Kfs*6	Frameshift	10/16	-	1
5-112154844-A-G	c.1115A>G	p.N372S	Missense	10/16	-	1
5-112154846-T-C	c.1117T>C	p.S373P	Missense	10/16	-	27
5-112154846-TC-GA	c.1117_1118inv	p.S373D	Missense	10/16	-	1
5-112154846-TC-GG	c.1117_1118delinsGG	p.S373G	Missense	10/16	-	1
5-112154846-T-G	c.1117T>G	p.S373A	Missense	10/16	-	1
5-112154847-CC-AA	c.1118_1119delinsAA	p.S373*	Nonsense	10/16	-	1
5-112154847-C-G	c.1118C>G	p.S373C	Missense	10/16	-	2
5-112154847-C-T	c.1118C>T	p.S373F	Missense	10/16	-	7
5-112154848-C-A	c.1119C>A	p.S373=	Synonymous	10/16	-	1
5-112154848-C-G	c.1119C>G	p.S373=	Synonymous	10/16	-	1
5-112154848-C-T	c.1119C>T	p.S373=	Synonymous	10/16	-	1
5-112154846-TC-T	c.1120del	p.R374Gfs*80	Frameshift	10/16	-	1
5-112154846-T-TC	c.1120dup	p.R374Pfs*4	Frameshift	10/16	-	1
5-112154849-C-A	c.1120C>A	p.R374=	Synonymous	10/16	-	2
5-112154849-CG-TA	c.1120_1121delinsTA	p.R374*	Nonsense	10/16	-	1
5-112154849-C-T	c.1120C>T	p.R374W	Missense	10/16	-	4
5-112154851-G-A	c.1122G>A	p.R374=	Synonymous	10/16	-	2
5-112154851-G-C	c.1122G>C	p.R374=	Synonymous	10/16	-	2
5-112154851-G-T	c.1122G>T	p.R374=	Synonymous	10/16	-	2
5-112154847-CCCGGGGCAGTAAAGAGGCTCGGG-C	c.1121_1143del	p.R374Qfs*15	Frameshift	10/16	-	1
5-112154850-G-A	c.1121G>A	p.R374Q	Missense	10/16	-	8
5-112154850-GG-AT	c.1121_1122delinsAT	p.R374H	Missense	10/16	-	1
5-112154852-G-A	c.1123G>A	p.G375S	Missense	10/16	-	1
5-112154852-G-T	c.1123G>T	p.G375C	Missense	10/16	-	1
5-112154849-CG-C	c.1124del	p.G375Afs*79	Frameshift	10/16	-	3
5-112154853-G-A	c.1124G>A	p.G375D	Missense	10/16	-	1
5-112154853-G-C	c.1124G>C	p.G375A	Missense	10/16	-	1
5-112154854-C-A	c.1125C>A	p.G375=	Synonymous	10/16	-	2
5-112154855-AG-GC	c.1126_1127delinsGC	p.S376A	Missense	10/16	-	2
5-112154855-A-T	c.1126A>T	p.S376C	Missense	10/16	-	1
5-112154856-G-A	c.1127G>A	p.S376N	Missense	10/16	-	1
5-112154858-A-C	c.1129A>C	p.K377Q	Missense	10/16	-	1
5-112154857-TAA-T	c.1130_1131del	p.K377Rfs*19	Frameshift	10/16	-	1
5-112154861-G-A	c.1132G>A	p.E378K	Missense	10/16	-	1
5-112154861-G-C	c.1132G>C	p.E378Q	Missense	10/16	-	1
5-112154861-G-T	c.1132G>T	p.E378*	Nonsense	10/16	-	1
5-112154862-A-T	c.1133A>T	p.E378V	Missense	10/16	-	2
5-112154863-G-A	c.1134G>A	p.E378=	Synonymous	10/16	-	1
5-112154863-G-C	c.1134G>C	p.E378D	Missense	10/16	-	1
5-112154863-G-T	c.1134G>T	p.E378D	Missense	10/16	-	1
5-112154864-G-C	c.1135G>C	p.A379P	Missense	10/16	-	1
5-112154864-G-T	c.1135G>T	p.A379S	Missense	10/16	-	1
5-112154865-C-A	c.1136C>A	p.A379D	Missense	10/16	-	2
5-112154865-C-G	c.1136C>G	p.A379G	Missense	10/16	-	1
5-112154865-C-T	c.1136C>T	p.A379V	Missense	10/16	-	3
5-112154867-CG-AT	c.1138_1139delinsAT	p.R380M	Missense	10/16	-	1
5-112154867-CG-GC	c.1138_1139delinsGC	p.R380A	Missense	10/16	-	1
5-112154867-CGG-TGT	c.1138_1140delinsTGT	p.R380C	Missense	10/16	-	2
5-112154867-C-T	c.1138C>T	p.R380W	Missense	10/16	-	6
5-112154868-G-A	c.1139G>A	p.R380Q	Missense	10/16	-	6
5-112154868-G-C	c.1139G>C	p.R380P	Missense	10/16	-	2
5-112154868-G-T	c.1139G>T	p.R380L	Missense	10/16	-	4
5-112154867-CG-C	c.1141del	p.A381Pfs*73	Frameshift	10/16	-	1
5-112154870-G-A	c.1141G>A	p.A381T	Missense	10/16	-	2
5-112154870-G-T	c.1141G>T	p.A381S	Missense	10/16	-	1
5-112154871-C-T	c.1142C>T	p.A381V	Missense	10/16	-	1
5-112154872-C-A	c.1143C>A	p.A381=	Synonymous	10/16	-	1
5-112154872-C-G	c.1143C>G	p.A381=	Synonymous	10/16	-	1
5-112154872-C-T	c.1143C>T	p.A381=	Synonymous	10/16	-	1
5-112154873-A-C	c.1144A>C	p.R382=	Synonymous	10/16	-	1
5-112154873-AG-GA	c.1144_1145delinsGA	p.R382E	Missense	10/16	-	1
5-112154873-AGG-CAT	c.1144_1146delinsCAT	p.R382H	Missense	10/16	-	1
5-112154873-AGG-TGT	c.1144_1146delinsTGT	p.R382C	Missense	10/16	-	1
5-112154874-G-A	c.1145G>A	p.R382K	Missense	10/16	-	8
5-112154874-G-T	c.1145G>T	p.R382M	Missense	10/16	-	2
5-112154875-G-C	c.1146G>C	p.R382S	Missense	10/16	-	1
5-112154875-G-T	c.1146G>T	p.R382S	Missense	10/16	-	1
5-112154876-G-A	c.1147G>A	p.A383T	Missense	10/16	-	2
5-112154876-G-T	c.1147G>T	p.A383S	Missense	10/16	-	1
5-112154877-C-A	c.1148C>A	p.A383D	Missense	10/16	-	1
5-112154877-C-T	c.1148C>T	p.A383V	Missense	10/16	-	1
5-112154879-A-G	c.1150A>G	p.S384G	Missense	10/16	-	1
5-112154879-AG-GC	c.1150_1151delinsGC	p.S384A	Missense	10/16	-	2
5-112154879-AG-TT	c.1150_1151delinsTT	p.S384F	Missense	10/16	-	1
5-112154880-G-A	c.1151G>A	p.S384N	Missense	10/16	-	2
5-112154880-G-T	c.1151G>T	p.S384I	Missense	10/16	-	6
5-112154879-A-C	c.1150A>C	p.S384R	Missense	10/16	-	1
5-112154881-GT-G	c.1152del	p.S384Rfs*70	Frameshift	10/16	-	2
5-112154881-T-A	c.1152T>A	p.S384R	Missense	10/16	-	1
5-112154881-T-G	c.1152T>G	p.S384R	Missense	10/16	-	1
5-112154881-T-TCC	c.1152_1153insCC	p.A385Pfs*70	Frameshift	10/16	-	1
5-112154882-G-A	c.1153G>A	p.A385T	Missense	10/16	-	5
5-112154883-C-T	c.1154C>T	p.A385V	Missense	10/16	-	1
5-112154883-GC-G	c.1154del	p.A385Efs*69	Frameshift	10/16	-	1
5-112154884-A-T	c.1155A>T	p.A385=	Synonymous	10/16	-	1
5-112154885-G-A	c.1156G>A	p.A386T	Missense	10/16	-	3
5-112154885-GCA-G	c.1158_1159del	p.L387Pfs*9	Frameshift	10/16	-	1
5-112154887-A-C	c.1158A>C	p.A386=	Synonymous	10/16	-	2
5-112154887-A-G	c.1158A>G	p.A386=	Synonymous	10/16	-	3
5-112154887-A-T	c.1158A>T	p.A386=	Synonymous	10/16	-	2
5-112154888-C-A	c.1159C>A	p.L387I	Missense	10/16	-	1
5-112154888-C-G	c.1159C>G	p.L387V	Missense	10/16	-	1
5-112154888-C-T	c.1159C>T	p.L387F	Missense	10/16	-	3
5-112154888-CTC-ATG	c.1159_1161delinsATG	p.L387M	Missense	10/16	-	1
5-112154888-CT-TG	c.1159_1160delinsTG	p.L387C	Missense	10/16	-	1
5-112154889-T-C	c.1160T>C	p.L387P	Missense	10/16	-	1
5-112154891-CA-GC	c.1162_1163delinsGC	p.H388A	Missense	10/16	-	1
5-112154891-C-T	c.1162C>T	p.H388Y	Missense	10/16	-	1
5-112154892-A-G	c.1163A>G	p.H388R	Missense	10/16	-	1
5-112154892-CA-C	c.1163del	p.H388Pfs*66	Frameshift	10/16	-	1
5-112154893-C-A	c.1164C>A	p.H388Q	Missense	10/16	-	2
5-112154893-C-G	c.1164C>G	p.H388Q	Missense	10/16	-	2
5-112154893-C-T	c.1164C>T	p.H388=	Synonymous	10/16	-	1
5-112154894-A-AT	c.1165_1166insT	p.N389Ifs*8	Frameshift	10/16	-	1
5-112154894-A-G	c.1165A>G	p.N389D	Missense	10/16	-	1
5-112154895-A-C	c.1166A>C	p.N389T	Missense	10/16	-	1
5-112154896-AC-A	c.1167del	p.N389Kfs*65	Frameshift	10/16	-	1
5-112154896-C-T	c.1167C>T	p.N389=	Synonymous	10/16	-	1
5-112154897-A-G	c.1168A>G	p.I390V	Missense	10/16	-	2
5-112154898-T-C	c.1169T>C	p.I390T	Missense	10/16	-	1
5-112154899-C-A	c.1170C>A	p.I390=	Synonymous	10/16	-	1
5-112154899-C-T	c.1170C>T	p.I390=	Synonymous	10/16	-	1
5-112154900-A-C	c.1171A>C	p.I391L	Missense	10/16	-	1
5-112154900-A-G	c.1171A>G	p.I391V	Missense	10/16	-	1
5-112154900-A-T	c.1171A>T	p.I391F	Missense	10/16	-	3
5-112154900-A-AT	c.1173dup	p.H392Sfs*5	Frameshift	10/16	-	1
5-112154902-T-A	c.1173T>A	p.I391=	Synonymous	10/16	-	1
5-112154902-T-C	c.1173T>C	p.I391=	Synonymous	10/16	-	1
5-112154902-T-G	c.1173T>G	p.I391M	Missense	10/16	-	2
5-112154903-C-G	c.1174C>G	p.H392D	Missense	10/16	-	1
5-112154903-C-T	c.1174C>T	p.H392Y	Missense	10/16	-	3
5-112154904-A-G	c.1175A>G	p.H392R	Missense	10/16	-	1
5-112154904-A-T	c.1175A>T	p.H392L	Missense	10/16	-	2
5-112154903-CACTCACAGCCTGATGACAAGAGAGGCAGGCGTGAAATCCG-C	c.1176_1215del	p.H392Qfs*49	Frameshift	10/16	-	1
5-112154905-C-T	c.1176C>T	p.H392=	Synonymous	10/16	-	2
5-112154905-C-CT	c.1177dup	p.S393Ffs*4	Frameshift	10/16	-	2
5-112154906-T-C	c.1177T>C	p.S393P	Missense	10/16	-	1
5-112154907-C-A	c.1178C>A	p.S393*	Nonsense	10/16	-	3
5-112154907-CA-GT	c.1178_1179delinsGT	p.S393C	Missense	10/16	-	1
5-112154907-C-G	c.1178C>G	p.S393*	Nonsense	10/16	-	2
5-112154909-C-A	c.1180C>A	p.Q394K	Missense	10/16	-	1
5-112154909-C-T	c.1180C>T	p.Q394*	Nonsense	10/16	-	6
5-112154911-AGCC-A	c.1182_1184del	p.Q394_P395delinsH	MultiAAMissense	10/16	-	1
5-112154911-G-C	c.1182G>C	p.Q394H	Missense	10/16	-	3
5-112154911-G-T	c.1182G>T	p.Q394H	Missense	10/16	-	3
5-112154912-C-T	c.1183C>T	p.P395S	Missense	10/16	-	2
5-112154913-C-T	c.1184C>T	p.P395L	Missense	10/16	-	1
5-112154914-T-A	c.1185T>A	p.P395=	Synonymous	10/16	-	1
5-112154914-T-C	c.1185T>C	p.P395=	Synonymous	10/16	-	1
5-112154914-T-G	c.1185T>G	p.P395=	Synonymous	10/16	-	1
5-112154914-T-TGG	c.1186_1187insGG	p.D396Gfs*59	Frameshift	10/16	-	1
5-112154915-G-A	c.1186G>A	p.D396N	Missense	10/16	-	3
5-112154915-G-T	c.1186G>T	p.D396Y	Missense	10/16	-	1
5-112154916-A-G	c.1187A>G	p.D396G	Missense	10/16	-	2
5-112154916-A-AT	c.1188dup	p.D397*	Nonsense	10/16	-	1
5-112154917-T-A	c.1188T>A	p.D396E	Missense	10/16	-	1
5-112154917-T-G	c.1188T>G	p.D396E	Missense	10/16	-	1
5-112154918-G-A	c.1189G>A	p.D397N	Missense	10/16	-	3
5-112154920-C-CT	c.1191_1192insT	p.K398*	Nonsense	10/16	-	1
5-112154920-C-T	c.1191C>T	p.D397=	Synonymous	10/16	-	2
5-112154921-A-G	c.1192A>G	p.K398E	Missense	10/16	-	1
5-112154921-A-T	c.1192A>T	p.K398*	Nonsense	10/16	-	1
5-112154921-CAA-C	c.1192_1193del	p.K398Efs*5	Frameshift	10/16	-	5
5-112154920-C-CA	c.1193dup	p.R399Efs*5	Frameshift	10/16	-	2
5-112154922-A-G	c.1193A>G	p.K398R	Missense	10/16	-	4
5-112154923-G-A	c.1194G>A	p.K398=	Synonymous	10/16	-	3
5-112154923-G-C	c.1194G>C	p.K398N	Missense	10/16	-	1
5-112154923-G-GT	c.1194_1195insT	p.R399*	Nonsense	10/16	-	1
5-112154924-A-G	c.1195A>G	p.R399G	Missense	10/16	-	1
5-112154924-AGA-TGG	c.1195_1197delinsTGG	p.R399W	Missense	10/16	-	1
5-112154924-AGA-TGT	c.1195_1197delinsTGT	p.R399C	Missense	10/16	-	1
5-112154924-AG-CA	c.1195_1196delinsCA	p.R399Q	Missense	10/16	-	31
5-112154924-AG-CC	c.1195_1196delinsCC	p.R399P	Missense	10/16	-	1
5-112154924-AG-GC	c.1195_1196delinsGC	p.R399A	Missense	10/16	-	1
5-112154924-A-T	c.1195A>T	p.R399*	Nonsense	10/16	-	1
5-112154924-GA-G	c.1195del	p.R399Efs*55	Frameshift	10/16	-	1
5-112154925-G-A	c.1196G>A	p.R399K	Missense	10/16	-	2
5-112154924-A-C	c.1195A>C	p.R399=	Synonymous	10/16	-	1
5-112154926-A-C	c.1197A>C	p.R399S	Missense	10/16	-	1
5-112154926-A-G	c.1197A>G	p.R399=	Synonymous	10/16	-	2
5-112154926-A-T	c.1197A>T	p.R399S	Missense	10/16	-	1
5-112154927-G-A	c.1198G>A	p.G400S	Missense	10/16	-	3
5-112154928-G-C	c.1199G>C	p.G400A	Missense	10/16	-	1
5-112154928-GC-AG	c.1199_1200delinsAG	p.G400E	Missense	10/16	-	1
5-112154928-G-T	c.1199G>T	p.G400V	Missense	10/16	-	5
5-112154929-C-CA	c.1201dup	p.R401Kfs*3	Frameshift	10/16	-	1
5-112154930-AG-CC	c.1201_1202delinsCC	p.R401P	Missense	10/16	-	1
5-112154930-AGG-CAT	c.1201_1203delinsCAT	p.R401H	Missense	10/16	-	2
5-112154930-AGG-TGT	c.1201_1203delinsTGT	p.R401C	Missense	10/16	-	1
5-112154930-A-T	c.1201A>T	p.R401W	Missense	10/16	-	1
5-112154931-G-A	c.1202G>A	p.R401K	Missense	10/16	-	4
5-112154933-C-A	c.1204C>A	p.R402S	Missense	10/16	-	1
5-112154933-CGT-TGA	c.1204_1206delinsTGA	p.R402*	Nonsense	10/16	-	1
5-112154933-CGT-TGG	c.1204_1206delinsTGG	p.R402W	Missense	10/16	-	1
5-112154933-C-T	c.1204C>T	p.R402C	Missense	10/16	-	12
5-112154934-G-A	c.1205G>A	p.R402H	Missense	10/16	-	2
5-112154934-GT-AA	c.1205_1206delinsAA	p.R402Q	Missense	10/16	-	1
5-112154935-GT-G	c.1206del	p.E403Kfs*51	Frameshift	10/16	-	7
5-112154936-G-A	c.1207G>A	p.E403K	Missense	10/16	-	5
5-112154936-GA-G	c.1210del	p.I404Sfs*50	Frameshift	10/16	-	2
5-112154939-A-G	c.1210A>G	p.I404V	Missense	10/16	-	3
5-112154941-C-A	c.1212C>A	p.I404=	Synonymous	10/16	-	2
5-112154941-C-T	c.1212C>T	p.I404=	Synonymous	10/16	-	3
5-112154940-TC-T	c.1213del	p.R405Efs*49	Frameshift	10/16	-	2
5-112154942-CG-AA	c.1213_1214delinsAA	p.R405K	Missense	10/16	-	1
5-112154942-CGA-TGT	c.1213_1215delinsTGT	p.R405C	Missense	10/16	-	2
5-112154942-C-T	c.1213C>T	p.R405*	Nonsense	10/16	-	36
5-112154943-G-A	c.1214G>A	p.R405Q	Missense	10/16	-	2
5-112154943-GA-AT	c.1214_1215delinsAT	p.R405H	Missense	10/16	-	1
5-112154945-G-C	c.1216G>C	p.V406L	Missense	10/16	-	1
5-112154946-T-C	c.1217T>C	p.V406A	Missense	10/16	-	2
5-112154947-C-A	c.1218C>A	p.V406=	Synonymous	10/16	-	1
5-112154947-C-G	c.1218C>G	p.V406=	Synonymous	10/16	-	1
5-112154947-C-T	c.1218C>T	p.V406=	Synonymous	10/16	-	1
5-112154946-TC-T	c.1219del	p.L407Ffs*47	Frameshift	10/16	-	2
5-112154948-C-A	c.1219C>A	p.L407I	Missense	10/16	-	1
5-112154948-C-T	c.1219C>T	p.L407F	Missense	10/16	-	4
5-112154948-CTT-ATG	c.1219_1221delinsATG	p.L407M	Missense	10/16	-	1
5-112154951-C-T	c.1222C>T	p.H408Y	Missense	10/16