NPEPPS

NPEPPS aminopeptidase puromycin sensitive

Annotation transcript: NM_006310.4

997 unique variant annotations were identified in 346 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
17-45608592-G-A	c.-75G>A	-	5-UTRSNV	1/23	-	1
17-45608592-G-T	c.-75G>T	-	5-UTRSNV	1/23	-	1
17-45608673-C-T	c.7C>T	p.L3=	Synonymous	1/23	-	1
17-45608675-G-A	c.9G>A	p.L3=	Synonymous	1/23	-	1
17-45608675-G-C	c.9G>C	p.L3=	Synonymous	1/23	-	1
17-45608675-G-T	c.9G>T	p.L3=	Synonymous	1/23	-	1
17-45608676-G-T	c.10G>T	p.A4S	Missense	1/23	-	1
17-45608681-T-G	c.15T>G	p.A5=	Synonymous	1/23	-	1
17-45608691-T-C	c.25T>C	p.S9P	Missense	1/23	-	2
17-45608696-C-A	c.30C>A	p.L10=	Synonymous	1/23	-	1
17-45608696-C-G	c.30C>G	p.L10=	Synonymous	1/23	-	1
17-45608696-C-T	c.30C>T	p.L10=	Synonymous	1/23	-	1
17-45608697-G-A	c.31G>A	p.A11T	Missense	1/23	-	1
17-45608697-GC-AA	c.31_32delinsAA	p.A11N	Missense	1/23	-	2
17-45608697-GC-TA	c.31_32delinsTA	p.A11Y	Missense	1/23	-	1
17-45608698-C-T	c.32C>T	p.A11V	Missense	1/23	-	1
17-45608698-CT-AG	c.32_33inv	p.A11E	Missense	1/23	-	2
17-45608710-T-G	c.44T>G	p.L15R	Missense	1/23	-	1
17-45608711-C-A	c.45C>A	p.L15=	Synonymous	1/23	-	1
17-45608711-C-G	c.45C>G	p.L15=	Synonymous	1/23	-	1
17-45608711-C-T	c.45C>T	p.L15=	Synonymous	1/23	-	1
17-45608712-T-G	c.46T>G	p.F16V	Missense	1/23	-	1
17-45608713-T-C	c.47T>C	p.F16S	Missense	1/23	-	1
17-45608714-C-A	c.48C>A	p.F16L	Missense	1/23	-	1
17-45608716-T-A	c.50T>A	p.L17H	Missense	1/23	-	1
17-45608723-T-A	c.57T>A	p.P19=	Synonymous	1/23	-	1
17-45608726-G-A	c.60G>A	p.P20=	Synonymous	1/23	-	2
17-45608726-G-C	c.60G>C	p.P20=	Synonymous	1/23	-	3
17-45608726-G-T	c.60G>T	p.P20=	Synonymous	1/23	-	2
17-45608728-C-A	c.62C>A	p.P21H	Missense	1/23	-	1
17-45608728-C-G	c.62C>G	p.P21R	Missense	1/23	-	1
17-45608732-T-A	c.66T>A	p.P22=	Synonymous	1/23	-	1
17-45608737-T-G	c.71T>G	p.L24R	Missense	1/23	-	1
17-45608740-T-A	c.74T>A	p.L25H	Missense	1/23	-	1
17-45608743-T-A	c.77T>A	p.L26H	Missense	1/23	-	1
17-45608745-TCTC-T	c.79_81del	p.L27del	InFrameDeletion	1/23	-	2
17-45608750-C-A	c.84C>A	p.V28=	Synonymous	1/23	-	1
17-45608750-C-G	c.84C>G	p.V28=	Synonymous	1/23	-	1
17-45608750-C-T	c.84C>T	p.V28=	Synonymous	1/23	-	3
17-45608753-C-A	c.87C>A	p.F29L	Missense	1/23	-	1
17-45608757-C-A	c.91C>A	p.R31S	Missense	1/23	-	1
17-45608764-C-T	c.98C>T	p.S33F	Missense	1/23	-	1
17-45608765-T-A	c.99T>A	p.S33=	Synonymous	1/23	-	1
17-45608766-C-T	c.100C>T	p.R34C	Missense	1/23	-	1
17-45608768-C-A	c.102C>A	p.R34=	Synonymous	1/23	-	1
17-45608768-C-G	c.102C>G	p.R34=	Synonymous	1/23	-	1
17-45608768-C-T	c.102C>T	p.R34=	Synonymous	1/23	-	1
17-45608769-C-T	c.103C>T	p.R35C	Missense	1/23	-	1
17-45608772-C-T	c.106C>T	p.R36C	Missense	1/23	-	1
17-45608773-GC-AA	c.107_108delinsAA	p.R36Q	Missense	1/23	-	1
17-45608783-C-T	c.117C>T	p.S39=	Synonymous	1/23	-	1
17-45608792-C-A	c.126C>A	p.L42=	Synonymous	1/23	-	1
17-45608792-C-G	c.126C>G	p.L42=	Synonymous	1/23	-	1
17-45608792-C-T	c.126C>T	p.L42=	Synonymous	1/23	-	2
17-45608800-T-A	c.134T>A	p.M45K	Missense	1/23	-	1
17-45608803-C-A	c.137C>A	p.P46Q	Missense	1/23	-	1
17-45608805-G-A	c.139G>A	p.E47K	Missense	1/23	-	1
17-45608807-G-A	c.141G>A	p.E47=	Synonymous	1/23	-	1
17-45608807-G-C	c.141G>C	p.E47D	Missense	1/23	-	1
17-45608813-G-C	c.147G>C	p.R49S	Missense	1/23	-	1
17-45608813-G-T	c.147G>T	p.R49S	Missense	1/23	-	1
17-45608815-CC-AA	c.149_150delinsAA	p.P50Q	Missense	1/23	-	1
17-45608815-C-T	c.149C>T	p.P50L	Missense	1/23	-	1
17-45608817-T-C	c.151T>C	p.F51L	Missense	1/23	-	2
17-45608819-C-A	c.153C>A	p.F51L	Missense	1/23	-	2
17-45608819-C-G	c.153C>G	p.F51L	Missense	1/23	-	3
17-45608819-C-T	c.153C>T	p.F51=	Synonymous	1/23	-	3
17-45608820-G-T	c.154G>T	p.E52*	Nonsense	1/23	-	2
17-45608824-G-T	c.158G>T	p.R53L	Missense	1/23	-	1
17-45608828-G-C	c.162G>C	p.L54=	Synonymous	1/23	-	1
17-45608833-CC-TT	c.167_168delinsTT	p.A56V	Missense	1/23	-	1
17-45608833-C-T	c.167C>T	p.A56V	Missense	1/23	-	1
17-45608837-T-A	c.171T>A	p.D57E	Missense	1/23	-	1
17-45608837-T-G	c.171T>G	p.D57E	Missense	1/23	-	1
17-45608839-T-A	c.173T>A	p.V58D	Missense	1/23	-	1
17-45608841-T-G	c.175T>G	p.S59A	Missense	1/23	-	2
17-45608844-C-T	c.178C>T	p.P60S	Missense	1/23	-	1
17-45608848-T-A	c.182T>A	p.I61N	Missense	1/23	-	1
17-45608849-C-G	c.183C>G	p.I61M	Missense	1/23	-	3
17-45608850-A-C	c.184A>C	p.N62H	Missense	1/23	-	1
17-45608853-T-C	c.187T>C	p.Y63H	Missense	1/23	-	1
17-45608854-A-G	c.188A>G	p.Y63C	Missense	1/23	-	3
17-45608862-T-A	c.196T>A	p.C66S	Missense	1/23	-	1
17-45608863-G-C	c.197G>C	p.C66S	Missense	1/23	-	1
17-45608863-G-A	c.197G>A	p.C66Y	Missense	1/23	-	1
17-45608865-C-G	c.199C>G	p.L67V	Missense	1/23	-	2
17-45608865-C-T	c.199C>T	p.L67F	Missense	1/23	-	1
17-45608865-CT-AG	c.199_200inv	p.L67S	Missense	1/23	-	1
17-45608865-CT-GC	c.199_200delinsGC	p.L67A	Missense	1/23	-	1
17-45608869-A-C	c.203A>C	p.K68T	Missense	1/23	-	1
17-45608874-G-A	c.208G>A	p.D70N	Missense	1/23	-	1
17-45608885-C-T	c.219C>T	p.D73=	Synonymous	1/23	-	2
17-45608887-T-A	c.221T>A	p.F74Y	Missense	1/23	-	2
17-45608891-C-A	c.225C>A	p.T75=	Synonymous	1/23	-	1
17-45608891-C-G	c.225C>G	p.T75=	Synonymous	1/23	-	1
17-45608891-C-T	c.225C>T	p.T75=	Synonymous	1/23	-	1
17-45608895-G-A	c.229G>A	p.E77K	Missense	1/23	-	1
17-45608898-G-C	c.232G>C	p.G78R	Missense	1/23	-	1
17-45608908-A-T	c.242A>T	p.E81V	Missense	1/23	-	1
17-45608911-C-T	c.245C>T	p.A82V	Missense	1/23	-	1
17-45608913-G-A	c.247G>A	p.A83T	Missense	1/23	-	1
17-45608915-C-G	c.249C>G	p.A83=	Synonymous	1/23	-	1
17-45608916-G-A	c.250G>A	p.A84T	Missense	1/23	-	1
17-45608917-C-A	c.251C>A	p.A84D	Missense	1/23	-	1
17-45608917-CC-AG	c.251_252delinsAG	p.A84E	Missense	1/23	-	1
17-45608970-G-C	c.255+49G>C	-	IntronicSNV	-	1/22	1
17-45608983-G-C	c.255+62G>C	-	IntronicSNV	-	1/22	1
17-45608987-G-A	c.255+66G>A	-	IntronicSNV	-	1/22	1
17-45610558-T-A	c.255+1637T>A	-	IntronicSNV	-	1/22	1
17-45610873-TA-T	c.255+1960del	-	IntronicDeletion	-	1/22	1
17-45611704-T-C	c.255+2783T>C	-	IntronicSNV	-	1/22	1
17-45612906-G-A	c.255+3985G>A	-	IntronicSNV	-	1/22	1
17-45612906-G-C	c.255+3985G>C	-	IntronicSNV	-	1/22	1
17-45613995-T-A	c.255+5074T>A	-	IntronicSNV	-	1/22	1
17-45613995-T-C	c.255+5074T>C	-	IntronicSNV	-	1/22	1
17-45614763-T-A	c.255+5842T>A	-	IntronicSNV	-	1/22	1
17-45615944-G-A	c.255+7023G>A	-	IntronicSNV	-	1/22	1
17-45615944-G-T	c.255+7023G>T	-	IntronicSNV	-	1/22	1
17-45618812-G-A	c.256-4463G>A	-	IntronicSNV	-	1/22	1
17-45621261-A-G	c.256-2014A>G	-	IntronicSNV	-	1/22	1
17-45623275-G-C	c.256G>C	p.V86L	Missense	2/23	-	1
17-45623275-G-T	c.256G>T	p.V86L	Missense	2/23	-	1
17-45623278-A-G	c.259A>G	p.R87G	Missense	2/23	-	1
17-45623278-A-T	c.259A>T	p.R87W	Missense	2/23	-	1
17-45623279-G-C	c.260G>C	p.R87T	Missense	2/23	-	1
17-45623284-G-A	c.265G>A	p.A89T	Missense	2/23	-	1
17-45623284-GCG-TGT	c.265_267delinsTGT	p.A89C	Missense	2/23	-	1
17-45623285-C-T	c.266C>T	p.A89V	Missense	2/23	-	2
17-45623286-G-A	c.267G>A	p.A89=	Synonymous	2/23	-	3
17-45623286-G-C	c.267G>C	p.A89=	Synonymous	2/23	-	3
17-45623286-G-T	c.267G>T	p.A89=	Synonymous	2/23	-	2
17-45623287-A-T	c.268A>T	p.T90S	Missense	2/23	-	1
17-45623288-C-G	c.269C>G	p.T90S	Missense	2/23	-	1
17-45623293-C-G	c.274C>G	p.Q92E	Missense	2/23	-	1
17-45623299-G-A	c.280G>A	p.V94M	Missense	2/23	-	1
17-45623314-GA-CG	c.295_296delinsCG	p.D99R	Missense	2/23	-	1
17-45623314-GAT-CAA	c.295_297delinsCAA	p.D99Q	Missense	2/23	-	1
17-45623314-G-C	c.295G>C	p.D99H	Missense	2/23	-	1
17-45623315-A-G	c.296A>G	p.D99G	Missense	2/23	-	1
17-45623316-T-A	c.297T>A	p.D99E	Missense	2/23	-	1
17-45623316-T-G	c.297T>G	p.D99E	Missense	2/23	-	1
17-45623336-C-A	c.317C>A	p.S106*	Nonsense	2/23	-	1
17-45623338-TA-GT	c.319_320delinsGT	p.Y107V	Missense	2/23	-	1
17-45623338-T-G	c.319T>G	p.Y107D	Missense	2/23	-	1
17-45623339-A-T	c.320A>T	p.Y107F	Missense	2/23	-	1
17-45623340-T-A	c.321T>A	p.Y107*	Nonsense	2/23	-	1
17-45623340-T-G	c.321T>G	p.Y107*	Nonsense	2/23	-	1
17-45623341-G-T	c.322G>T	p.A108S	Missense	2/23	-	1
17-45623345-C-A	c.326C>A	p.P109Q	Missense	2/23	-	1
17-45623345-C-T	c.326C>T	p.P109L	Missense	2/23	-	1
17-45623348-A-G	c.329A>G	p.E110G	Missense	2/23	-	3
17-45623351-G-A	c.332G>A	p.G111E	Missense	2/23	-	1
17-45623357-A-C	c.338A>C	p.E113A	Missense	2/23	-	1
17-45623433-T-A	c.340+74T>A	-	IntronicSNV	-	2/22	1
17-45623435-T-A	c.340+76T>A	-	IntronicSNV	-	2/22	2
17-45623437-T-A	c.340+78T>A	-	IntronicSNV	-	2/22	2
17-45623439-T-A	c.340+80T>A	-	IntronicSNV	-	2/22	5
17-45623439-T-TGTCAGAGA	c.340+81_340+82insTCAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGA	c.340+81_340+82insTGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGAGA	c.340+81_340+82insTGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGAGAGA	c.340+81_340+82insTGAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGAGAGAGA	c.340+81_340+82insTGAGAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGAGAGAGAGA	c.340+81_340+82insTGAGAGAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGG	c.340+81_340+82insTGGG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGA	c.340+81_340+82insTGTGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGAGA	c.340+81_340+82insTGTGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGAGAGA	c.340+81_340+82insTGTGAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGAGAGAGA	c.340+81_340+82insTGTGAGAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGAGAGAGAGA	c.340+81_340+82insTGTGAGAGAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGA	c.340+81_340+82insTGTGTGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGAGA	c.340+81_340+82insTGTGTGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGAGAGA	c.340+81_340+82insTGTGTGAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGAGAGAGA	c.340+81_340+82insTGTGTGAGAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGTGA	c.340+81_340+82insTGTGTGTGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGTGAGA	c.340+81_340+82insTGTGTGTGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGTGAGAGA	c.340+81_340+82insTGTGTGTGAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGTGTGA	c.340+81_340+82insTGTGTGTGTGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGTGTGAGA	c.340+81_340+82insTGTGTGTGTGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGTGTGAGAGA	c.340+81_340+82insTGTGTGTGTGAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGTGTGTGA	c.340+81_340+82insTGTGTGTGTGTGAG	-	IntronicInsertion	-	2/22	4
17-45623439-T-TGTGTGTGTGTGTGTGTGAGAGAGA	c.340+81_340+82insTGTGTGTGTGTGTGTGAGAGAGAG	-	IntronicInsertion	-	2/22	4
17-45623440-G-GTGTGAC	c.340+81_340+82insTGTGAC	-	IntronicInsertion	-	2/22	2
17-45623441-A-T	c.340+82A>T	-	IntronicSNV	-	2/22	4
17-45623443-A-T	c.340+84A>T	-	IntronicSNV	-	2/22	2
17-45623460-C-G	c.340+101C>G	-	IntronicSNV	-	2/22	1
17-45624913-G-C	c.340+1554G>C	-	IntronicSNV	-	2/22	1
17-45624913-G-T	c.340+1554G>T	-	IntronicSNV	-	2/22	1
17-45626002-A-C	c.340+2643A>C	-	IntronicSNV	-	2/22	1
17-45626002-A-T	c.340+2643A>T	-	IntronicSNV	-	2/22	1
17-45626395-G-A	c.340+3036G>A	-	IntronicSNV	-	2/22	1
17-45626961-C-G	c.340+3602C>G	-	IntronicSNV	-	2/22	1
17-45626961-C-T	c.340+3602C>T	-	IntronicSNV	-	2/22	1
17-45627693-G-C	c.340+4334G>C	-	IntronicSNV	-	2/22	1
17-45627693-G-T	c.340+4334G>T	-	IntronicSNV	-	2/22	1
17-45627760-G-A	c.340+4401G>A	-	IntronicSNV	-	2/22	1
17-45627760-G-C	c.340+4401G>C	-	IntronicSNV	-	2/22	1
17-45627760-G-T	c.340+4401G>T	-	IntronicSNV	-	2/22	1
17-45629406-G-A	c.340+6047G>A	-	IntronicSNV	-	2/22	1
17-45629406-G-C	c.340+6047G>C	-	IntronicSNV	-	2/22	1
17-45629406-G-T	c.340+6047G>T	-	IntronicSNV	-	2/22	1
17-45630497-C-G	c.340+7138C>G	-	IntronicSNV	-	2/22	1
17-45630497-C-T	c.340+7138C>T	-	IntronicSNV	-	2/22	1
17-45631053-CT-C	c.340+7694del	-	IntronicDeletion	-	2/22	1
17-45633485-T-C	c.340+10126T>C	-	IntronicSNV	-	2/22	1
17-45633485-T-G	c.340+10126T>G	-	IntronicSNV	-	2/22	1
17-45634013-G-A	c.340+10654G>A	-	IntronicSNV	-	2/22	1
17-45634013-G-C	c.340+10654G>C	-	IntronicSNV	-	2/22	1
17-45634034-T-C	c.340+10675T>C	-	IntronicSNV	-	2/22	2
17-45635014-CT-C	c.340+11662del	-	IntronicDeletion	-	2/22	1
17-45637109-C-T	c.341-9674C>T	-	IntronicSNV	-	2/22	2
17-45637479-G-A	c.341-9304G>A	-	IntronicSNV	-	2/22	1
17-45638760-C-A	c.341-8023C>A	-	IntronicSNV	-	2/22	1
17-45638760-C-T	c.341-8023C>T	-	IntronicSNV	-	2/22	1
17-45640002-A-G	c.341-6781A>G	-	IntronicSNV	-	2/22	1
17-45640405-G-T	c.341-6378G>T	-	IntronicSNV	-	2/22	1
17-45640554-C-T	c.341-6229C>T	-	IntronicSNV	-	2/22	1
17-45640770-C-A	c.341-6013C>A	-	IntronicSNV	-	2/22	1
17-45640770-C-T	c.341-6013C>T	-	IntronicSNV	-	2/22	1
17-45641528-C-T	c.341-5255C>T	-	IntronicSNV	-	2/22	1
17-45641743-G-A	c.341-5040G>A	-	IntronicSNV	-	2/22	1
17-45646783-A-G	c.341A>G	p.E114G	Missense	3/23	-	2
17-45646785-A-T	c.343A>T	p.I115L	Missense	3/23	-	1
17-45646791-G-A	c.349G>A	p.A117T	Missense	3/23	-	2
17-45646791-G-T	c.349G>T	p.A117S	Missense	3/23	-	1
17-45646795-C-T	c.353C>T	p.T118I	Missense	3/23	-	1
17-45646797-GGA-TGG	c.355_357delinsTGG	p.G119W	Missense	3/23	-	1
17-45646798-G-T	c.356G>T	p.G119V	Missense	3/23	-	1
17-45646812-A-C	c.370A>C	p.N124H	Missense	3/23	-	1
17-45646813-A-G	c.371A>G	p.N124S	Missense	3/23	-	1
17-45646817-A-C	c.375A>C	p.E125D	Missense	3/23	-	1
17-45646817-A-T	c.375A>T	p.E125D	Missense	3/23	-	1
17-45646818-G-A	c.376G>A	p.D126N	Missense	3/23	-	2
17-45646821-G-A	c.379G>A	p.E127K	Missense	3/23	-	1
17-45646827-G-T	c.385G>T	p.V129F	Missense	3/23	-	1
17-45646836-TC-CT	c.394_395delinsCT	p.S132L	Missense	3/23	-	1
17-45646841-C-T	c.399C>T	p.F133=	Synonymous	3/23	-	2
17-45646842-C-A	c.400C>A	p.P134T	Missense	3/23	-	1
17-45646843-C-A	c.401C>A	p.P134H	Missense	3/23	-	1
17-45646843-CT-AA	c.401_402delinsAA	p.P134Q	Missense	3/23	-	1
17-45646850-T-A	c.408T>A	p.T136=	Synonymous	3/23	-	1
17-45646850-T-C	c.408T>C	p.T136=	Synonymous	3/23	-	1
17-45646850-T-G	c.408T>G	p.T136=	Synonymous	3/23	-	2
17-45646856-A-G	c.414A>G	p.Q138=	Synonymous	3/23	-	1
17-45646867-G-T	c.418+7G>T	-	IntronicSNV	-	3/22	1
17-45646940-AT-A	c.418+85del	-	IntronicDeletion	-	3/22	1
17-45646981-C-CT	c.418+136dup	-	IntronicInsertion	-	3/22	1
17-45646981-CT-C	c.418+136del	-	IntronicDeletion	-	3/22	2
17-45647067-T-C	c.418+207T>C	-	IntronicSNV	-	3/22	3
17-45647698-A-C	c.418+838A>C	-	IntronicSNV	-	3/22	1
17-45648380-T-C	c.418+1520T>C	-	IntronicSNV	-	3/22	1
17-45648446-A-C	c.418+1586A>C	-	IntronicSNV	-	3/22	1
17-45648446-A-G	c.418+1586A>G	-	IntronicSNV	-	3/22	1
17-45648814-G-C	c.418+1954G>C	-	IntronicSNV	-	3/22	1
17-45649694-C-A	c.418+2834C>A	-	IntronicSNV	-	3/22	1
17-45650196-T-C	c.418+3336T>C	-	IntronicSNV	-	3/22	1
17-45651056-C-A	c.418+4196C>A	-	IntronicSNV	-	3/22	1
17-45651056-C-T	c.418+4196C>T	-	IntronicSNV	-	3/22	1
17-45653291-T-C	c.419-3465T>C	-	IntronicSNV	-	3/22	1
17-45653291-T-G	c.419-3465T>G	-	IntronicSNV	-	3/22	1
17-45653364-A-T	c.419-3392A>T	-	IntronicSNV	-	3/22	1
17-45653569-C-T	c.419-3187C>T	-	IntronicSNV	-	3/22	1
17-45653921-T-A	c.419-2835T>A	-	IntronicSNV	-	3/22	1
17-45653921-T-G	c.419-2835T>G	-	IntronicSNV	-	3/22	1
17-45655887-A-T	c.419-869A>T	-	IntronicSNV	-	3/22	1
17-45656756-GT-AG	c.419_420delinsAG	p.G140E	Missense	4/23	-	1
17-45656759-C-T	c.422C>T	p.T141M	Missense	4/23	-	1
17-45656760-G-A	c.423G>A	p.T141=	Synonymous	4/23	-	1
17-45656763-A-C	c.426A>C	p.G142=	Synonymous	4/23	-	1
17-45656763-A-G	c.426A>G	p.G142=	Synonymous	4/23	-	1
17-45656763-A-T	c.426A>T	p.G142=	Synonymous	4/23	-	1
17-45656767-TT-CC	c.430_431delinsCC	p.L144P	Missense	4/23	-	1
17-45656768-TA-T	c.434del	p.K145Rfs*2	Frameshift	4/23	-	1
17-45656781-T-C	c.444T>C	p.F148=	Synonymous	4/23	-	1
17-45656782-GTT-ATG	c.445_447delinsATG	p.V149M	Missense	4/23	-	1
17-45656797-GACA-G	c.462_464del	p.D154_K155delinsE	MultiAAMissense	4/23	-	1
17-45656802-A-G	c.465A>G	p.K155=	Synonymous	4/23	-	2
17-45656826-A-G	c.489A>G	p.K163=	Synonymous	4/23	-	3
17-45656831-C-T	c.494C>T	p.T165I	Missense	4/23	-	1
17-45656833-A-G	c.496A>G	p.T166A	Missense	4/23	-	1
17-45656845-G-A	c.508G>A	p.E170K	Missense	4/23	-	1
17-45656848-G-T	c.511G>T	p.V171L	Missense	4/23	-	1
17-45656851-C-T	c.514C>T	p.R172C	Missense	4/23	-	5
17-45656852-G-A	c.515G>A	p.R172H	Missense	4/23	-	2
17-45656852-G-T	c.515G>T	p.R172L	Missense	4/23	-	1
17-45656854-T-G	c.517T>G	p.Y173D	Missense	4/23	-	1
17-45656855-A-G	c.518A>G	p.Y173C	Missense	4/23	-	1
17-45656866-A-G	c.529A>G	p.T177A	Missense	4/23	-	1
17-45656869-C-A	c.532C>A	p.Q178K	Missense	4/23	-	1
17-45656871-G-A	c.534G>A	p.Q178=	Synonymous	4/23	-	1
17-45656871-G-C	c.534G>C	p.Q178H	Missense	4/23	-	1
17-45656871-G-T	c.534G>T	p.Q178H	Missense	4/23	-	1
17-45656875-G-A	c.538G>A	p.E180K	Missense	4/23	-	1
17-45656876-A-G	c.539A>G	p.E180G	Missense	4/23	-	1
17-45656877-GGTAT-G	c.540+2_540+5del	-	IntronicDeletion	-	4/22	1
17-45656879-T-C	c.540+2T>C	-	IntronicSNV	-	4/22	1
17-45657770-AT-A	c.540+902del	-	IntronicDeletion	-	4/22	1
17-45657843-C-T	c.540+966C>T	-	IntronicSNV	-	4/22	1
17-45658911-A-G	c.541-1197A>G	-	IntronicSNV	-	4/22	1
17-45658911-A-T	c.541-1197A>T	-	IntronicSNV	-	4/22	1
17-45659920-G-A	c.541-188G>A	-	IntronicSNV	-	4/22	1
17-45659968-G-A	c.541-140G>A	-	IntronicSNV	-	4/22	1
17-45660108-GC-TG	c.541_542delinsTG	p.A181C	Missense	5/23	-	1
17-45660109-C-T	c.542C>T	p.A181V	Missense	5/23	-	1
17-45660120-C-G	c.553C>G	p.R185G	Missense	5/23	-	1
17-45660126-G-C	c.559G>C	p.A187P	Missense	5/23	-	1
17-45660137-C-T	c.570C>T	p.C190=	Synonymous	5/23	-	1
17-45660139-G-A	c.572G>A	p.W191*	Nonsense	5/23	-	1
17-45660140-G-A	c.573G>A	p.W191*	Nonsense	5/23	-	1
17-45660148-C-G	c.581C>G	p.P194R	Missense	5/23	-	1
17-45660148-C-T	c.581C>T	p.P194L	Missense	5/23	-	1
17-45660159-G-A	c.592G>A	p.A198T	Missense	5/23	-	1
17-45660162-A-G	c.595A>G	p.T199A	Missense	5/23	-	1
17-45660163-C-T	c.596C>T	p.T199I	Missense	5/23	-	1
17-45660168-G-A	c.601G>A	p.D201N	Missense	5/23	-	1
17-45660170-T-A	c.603T>A	p.D201E	Missense	5/23	-	1
17-45660170-T-C	c.603T>C	p.D201=	Synonymous	5/23	-	1
17-45660170-T-G	c.603T>G	p.D201E	Missense	5/23	-	1
17-45660186-C-T	c.619C>T	p.P207S	Missense	5/23	-	1
17-45660191-A-G	c.624A>G	p.K208=	Synonymous	5/23	-	1
17-45660192-G-A	c.625G>A	p.D209N	Missense	5/23	-	2
17-45660194-C-T	c.627C>T	p.D209=	Synonymous	5/23	-	1
17-45660206-A-T	c.639A>T	p.L213F	Missense	5/23	-	1
17-45660237-T-C	c.648+22T>C	-	IntronicSNV	-	5/22	1
17-45660339-T-A	c.648+124T>A	-	IntronicSNV	-	5/22	1
17-45660887-T-G	c.648+672T>G	-	IntronicSNV	-	5/22	1
17-45661593-A-G	c.649-1273A>G	-	IntronicSNV	-	5/22	1
17-45662383-T-C	c.649-483T>C	-	IntronicSNV	-	5/22	2
17-45662869-G-C	c.652G>C	p.V218L	Missense	6/23	-	2
17-45662869-G-T	c.652G>T	p.V218L	Missense	6/23	-	4
17-45662870-T-C	c.653T>C	p.V218A	Missense	6/23	-	4
17-45662875-G-T	c.658G>T	p.D220Y	Missense	6/23	-	1
17-45662879-G-A	c.662G>A	p.R221Q	Missense	6/23	-	1
17-45662890-C-T	c.673C>T	p.P225S	Missense	6/23	-	2
17-45662891-C-T	c.674C>T	p.P225L	Missense	6/23	-	1
17-45662896-G-A	c.679G>A	p.D227N	Missense	6/23	-	1
17-45662900-A-C	c.683A>C	p.E228A	Missense	6/23	-	1
17-45662908-GTG-ATC	c.691_693delinsATC	p.V231I	Missense	6/23	-	1
17-45662911-G-T	c.694G>T	p.E232*	Nonsense	6/23	-	1
17-45662914-G-C	c.697G>C	p.V233L	Missense	6/23	-	1
17-45662914-G-T	c.697G>T	p.V233L	Missense	6/23	-	1
17-45662916-G-A	c.699G>A	p.V233=	Synonymous	6/23	-	2
17-45662916-G-C	c.699G>C	p.V233=	Synonymous	6/23	-	1
17-45662916-G-T	c.699G>T	p.V233=	Synonymous	6/23	-	1
17-45662918-A-G	c.701A>G	p.K234R	Missense	6/23	-	1
17-45662925-C-T	c.708C>T	p.A236=	Synonymous	6/23	-	3
17-45662926-CGC-TGG	c.709_711delinsTGG	p.R237W	Missense	6/23	-	1
17-45662930-C-A	c.713C>A	p.T238K	Missense	6/23	-	1
17-45662939-T-C	c.722T>C	p.M241T	Missense	6/23	-	1
17-45662940-G-A	c.723G>A	p.M241I	Missense	6/23	-	1
17-45662940-G-C	c.723G>C	p.M241I	Missense	6/23	-	1
17-45662940-G-T	c.723G>T	p.M241I	Missense	6/23	-	1
17-45662941-TC-CG	c.724_725delinsCG	p.S242R	Missense	6/23	-	1
17-45662944-A-G	c.727A>G	p.T243A	Missense	6/23	-	1
17-45662946-A-G	c.729A>G	p.T243=	Synonymous	6/23	-	1
17-45662947-T-C	c.730T>C	p.Y244H	Missense	6/23	-	1
17-45662950-C-G	c.733C>G	p.L245V	Missense	6/23	-	3
17-45662950-C-T	c.733C>T	p.L245=	Synonymous	6/23	-	2
17-45662954-T-C	c.737T>C	p.V246A	Missense	6/23	-	1
17-45662956-G-A	c.739G>A	p.A247T	Missense	6/23	-	1
17-45662957-C-T	c.740C>T	p.A247V	Missense	6/23	-	1
17-45662962-G-T	c.745G>T	p.V249F	Missense	6/23	-	1
17-45662968-G-A	c.751G>A	p.G251S	Missense	6/23	-	1
17-45662968-G-C	c.751G>C	p.G251R	Missense	6/23	-	1
17-45662974-T-C	c.757T>C	p.Y253H	Missense	6/23	-	1
17-45662977-G-A	c.760G>A	p.D254N	Missense	6/23	-	1
17-45662986-G-A	c.769G>A	p.E257K	Missense	6/23	-	1
17-45662990-C-T	c.773C>T	p.T258I	Missense	6/23	-	1
17-45662992-AGG-CAT	c.775_777delinsCAT	p.R259H	Missense	6/23	-	1
17-45663001-G-C	c.784G>C	p.D262H	Missense	6/23	-	1
17-45663002-A-G	c.785A>G	p.D262G	Missense	6/23	-	3
17-45663003-TG-CA	c.786_787inv	p.G263S	Missense	6/23	-	1
17-45663005-G-A	c.788G>A	p.G263D	Missense	6/23	-	2
17-45663007-G-A	c.790G>A	p.V264M	Missense	6/23	-	1
17-45663009-G-T	c.792G>T	p.V264=	Synonymous	6/23	-	1
17-45663012-T-C	c.795T>C	p.C265=	Synonymous	6/23	-	1
17-45663016-C-A	c.799C>A	p.R267S	Missense	6/23	-	1
17-45663016-C-CAA	c.799_800insAA	p.R267Qfs*17	Frameshift	6/23	-	1
17-45663016-CGT-TGG	c.799_801delinsTGG	p.R267W	Missense	6/23	-	1
17-45663016-C-T	c.799C>T	p.R267C	Missense	6/23	-	5
17-45663017-G-A	c.800G>A	p.R267H	Missense	6/23	-	1
17-45663017-G-T	c.800G>T	p.R267L	Missense	6/23	-	1
17-45663022-T-C	c.805T>C	p.Y269H	Missense	6/23	-	2
17-45663028-C-T	c.811C>T	p.P271S	Missense	6/23	-	2
17-45663039-A-G	c.822A>G	p.K274=	Synonymous	6/23	-	1
17-45663049-G-A	c.832G>A	p.G278R	Missense	6/23	-	1
17-45663050-GA-AC	c.833_834delinsAC	p.G278D	Missense	6/23	-	1
17-45663054-A-C	c.837A>C	p.K279N	Missense	6/23	-	1
17-45663054-A-G	c.837A>G	p.K279=	Synonymous	6/23	-	1
17-45663054-A-AT	c.840dup	p.A281Cfs*7	Frameshift	6/23	-	2
17-45663060-G-A	c.843G>A	p.A281=	Synonymous	6/23	-	1
17-45663063-A-C	c.846A>C	p.L282F	Missense	6/23	-	1
17-45663514-G-A	c.850G>A	p.V284I	Missense	7/23	-	1
17-45663516-T-A	c.852T>A	p.V284=	Synonymous	7/23	-	1
17-45663516-T-C	c.852T>C	p.V284=	Synonymous	7/23	-	1
17-45663516-T-G	c.852T>G	p.V284=	Synonymous	7/23	-	1
17-45663518-C-T	c.854C>T	p.A285V	Missense	7/23	-	1
17-45663520-G-A	c.856G>A	p.A286T	Missense	7/23	-	1
17-45663532-C-T	c.868C>T	p.P290S	Missense	7/23	-	1
17-45663547-T-A	c.883T>A	p.Y295N	Missense	7/23	-	1
17-45663549-C-T	c.885C>T	p.Y295=	Synonymous	7/23	-	1
17-45663554-A-G	c.890A>G	p.N297S	Missense	7/23	-	1
17-45663558-T-A	c.894T>A	p.V298=	Synonymous	7/23	-	1
17-45663558-T-C	c.894T>C	p.V298=	Synonymous	7/23	-	1
17-45663558-T-G	c.894T>G	p.V298=	Synonymous	7/23	-	1
17-45663565-C-T	c.901C>T	p.P301S	Missense	7/23	-	1
17-45663566-C-T	c.902C>T	p.P301L	Missense	7/23	-	7
17-45663572-C-T	c.908C>T	p.P303L	Missense	7/23	-	1
17-45663575-A-G	c.911A>G	p.K304R	Missense	7/23	-	1
17-45663576-A-C	c.912A>C	p.K304N	Missense	7/23	-	1
17-45663576-A-T	c.912A>T	p.K304N	Missense	7/23	-	1
17-45663580-G-C	c.916G>C	p.D306H	Missense	7/23	-	1
17-45663582-T-A	c.918T>A	p.D306E	Missense	7/23	-	1
17-45663582-T-G	c.918T>G	p.D306E	Missense	7/23	-	1
17-45663585-C-A	c.921C>A	p.L307=	Synonymous	7/23	-	2
17-45663585-C-G	c.921C>G	p.L307=	Synonymous	7/23	-	2
17-45663585-C-T	c.921C>T	p.L307=	Synonymous	7/23	-	2
17-45663590-C-G	c.926C>G	p.A309G	Missense	7/23	-	1
17-45663595-G-A	c.931G>A	p.A311T	Missense	7/23	-	1
17-45663604-G-A	c.940G>A	p.A314T	Missense	7/23	-	1
17-45663604-G-T	c.940G>T	p.A314S	Missense	7/23	-	1
17-45663605-C-T	c.941C>T	p.A314V	Missense	7/23	-	1
17-45663606-A-C	c.942A>C	p.A314=	Synonymous	7/23	-	1
17-45663606-A-G	c.942A>G	p.A314=	Synonymous	7/23	-	1
17-45663606-A-T	c.942A>T	p.A314=	Synonymous	7/23	-	1
17-45663610-G-T	c.946G>T	p.G316C	Missense	7/23	-	1
17-45663700-A-ATATC	c.947-30_947-29insATCT	-	IntronicInsertion	-	7/22	1
17-45663702-C-A	c.947-29C>A	-	IntronicSNV	-	7/22	2
17-45663739-G-A	c.955G>A	p.E319K	Missense	8/23	-	1
17-45663749-G-A	c.965G>A	p.G322D	Missense	8/23	-	27
17-45663749-G-T	c.965G>T	p.G322V	Missense	8/23	-	1
17-45663751-C-A	c.967C>A	p.L323I	Missense	8/23	-	1
17-45663753-T-A	c.969T>A	p.L323=	Synonymous	8/23	-	1
17-45663753-T-C	c.969T>C	p.L323=	Synonymous	8/23	-	1
17-45663753-T-G	c.969T>G	p.L323=	Synonymous	8/23	-	1
17-45663756-T-A	c.972T>A	p.V324=	Synonymous	8/23	-	1
17-45663756-T-C	c.972T>C	p.V324=	Synonymous	8/23	-	1
17-45663756-T-G	c.972T>G	p.V324=	Synonymous	8/23	-	1
17-45663780-G-A	c.980+16G>A	-	IntronicSNV	-	8/22	3
17-45663896-G-A	c.980+132G>A	-	IntronicSNV	-	8/22	1
17-45663912-T-G	c.980+148T>G	-	IntronicSNV	-	8/22	2
17-45664067-A-G	c.980+303A>G	-	IntronicSNV	-	8/22	1
17-45664281-G-A	c.981-315G>A	-	IntronicSNV	-	8/22	1
17-45664588-A-G	c.981-8A>G	-	IntronicSNV	-	8/22	1
17-45664588-A-T	c.981-8A>T	-	IntronicSNV	-	8/22	1
17-45664593-C-T	c.981-3C>T	-	IntronicSNV	-	8/22	6
17-45664599-G-C	c.984G>C	p.E328D	Missense	9/23	-	1
17-45664599-G-T	c.984G>T	p.E328D	Missense	9/23	-	1
17-45664600-A-T	c.985A>T	p.T329S	Missense	9/23	-	1
17-45664601-C-G	c.986C>G	p.T329S	Missense	9/23	-	1
17-45664601-CT-TG	c.986_987delinsTG	p.T329M	Missense	9/23	-	1
17-45664603-G-A	c.988G>A	p.A330T	Missense	9/23	-	1
17-45664612-A-G	c.997A>G	p.I333V	Missense	9/23	-	1
17-45664619-CA-C	c.1010del	p.N337Ifs*37	Frameshift	9/23	-	2
17-45664619-C-CA	c.1010dup	p.N337Kfs*17	Frameshift	9/23	-	1
17-45664627-TC-CT	c.1012_1013delinsCT	p.S338L	Missense	9/23	-	1
17-45664628-C-G	c.1013C>G	p.S338C	Missense	9/23	-	7
17-45664637-C-T	c.1022C>T	p.S341L	Missense	9/23	-	1
17-45664642-C-T	c.1027C>T	p.R343C	Missense	9/23	-	3
17-45664643-G-A	c.1028G>A	p.R343H	Missense	9/23	-	1
17-45664647-G-C	c.1032G>C	p.Q344H	Missense	9/23	-	1
17-45664649-G-A	c.1034G>A	p.W345*	Nonsense	9/23	-	1
17-45664649-G-T	c.1034G>T	p.W345L	Missense	9/23	-	1
17-45664650-G-A	c.1035G>A	p.W345*	Nonsense	9/23	-	1
17-45664651-G-T	c.1036G>T	p.V346F	Missense	9/23	-	1
17-45664668-A-C	c.1053A>C	p.G351=	Synonymous	9/23	-	1
17-45664668-A-G	c.1053A>G	p.G351=	Synonymous	9/23	-	2
17-45664668-A-T	c.1053A>T	p.G351=	Synonymous	9/23	-	1
17-45664670-A-C	c.1055A>C	p.H352P	Missense	9/23	-	1
17-45664673-A-C	c.1058A>C	p.E353A	Missense	9/23	-	1
17-45664674-A-G	c.1059A>G	p.E353=	Synonymous	9/23	-	1
17-45664677-C-A	c.1062C>A	p.L354=	Synonymous	9/23	-	3
17-45664677-C-G	c.1062C>G	p.L354=	Synonymous	9/23	-	3
17-45664677-C-T	c.1062C>T	p.L354=	Synonymous	9/23	-	8
17-45664679-C-T	c.1064C>T	p.A355V	Missense	9/23	-	1
17-45664696-A-G	c.1081A>G	p.N361D	Missense	9/23	-	1
17-45664704-T-G	c.1089T>G	p.V363=	Synonymous	9/23	-	1
17-45664705-A-G	c.1090A>G	p.T364A	Missense	9/23	-	2
17-45664717-AATATTTTTAAGTGCTCAAAT-A	c.1095+14_1095+33del	-	IntronicDeletion	-	9/22	1
17-45664774-A-G	c.1095+64A>G	-	IntronicSNV	-	9/22	1
17-45664861-A-G	c.1095+151A>G	-	IntronicSNV	-	9/22	2
17-45667550-G-A	c.1096-533G>A	-	IntronicSNV	-	9/22	1
17-45668041-A-G	c.1096-42A>G	-	IntronicSNV	-	9/22	2
17-45668086-T-C	c.1099T>C	p.W367R	Missense	10/23	-	1
17-45668087-G-A	c.1100G>A	p.W367*	Nonsense	10/23	-	5
17-45668088-G-A	c.1101G>A	p.W367*	Nonsense	10/23	-	2
17-45668090-G-A	c.1103G>A	p.W368*	Nonsense	10/23	-	1
17-45668091-G-A	c.1104G>A	p.W368*	Nonsense	10/23	-	1
17-45668095-C-T	c.1108C>T	p.H370Y	Missense	10/23	-	1
17-45668096-A-T	c.1109A>T	p.H370L	Missense	10/23	-	1
17-45668098-C-T	c.1111C>T	p.L371F	Missense	10/23	-	2
17-45668110-G-A	c.1123G>A	p.E375K	Missense	10/23	-	1
17-45668111-A-T	c.1124A>T	p.E375V	Missense	10/23	-	2
17-45668114-G-T	c.1127G>T	p.G376V	Missense	10/23	-	1
17-45668120-C-T	c.1133C>T	p.A378V	Missense	10/23	-	1
17-45668127-G-A	c.1140G>A	p.W380*	Nonsense	10/23	-	1
17-45668130-T-G	c.1143T>G	p.I381M	Missense	10/23	-	1
17-45668137-C-G	c.1150C>G	p.L384V	Missense	10/23	-	5
17-45668137-C-T	c.1150C>T	p.L384=	Synonymous	10/23	-	1
17-45668138-T-A	c.1151T>A	p.L384Q	Missense	10/23	-	1
17-45668139-G-T	c.1152G>T	p.L384=	Synonymous	10/23	-	1
17-45668145-A-C	c.1158A>C	p.V386=	Synonymous	10/23	-	1
17-45668145-A-G	c.1158A>G	p.V386=	Synonymous	10/23	-	2
17-45668145-A-T	c.1158A>T	p.V386=	Synonymous	10/23	-	1
17-45668149-C-T	c.1162C>T	p.H388Y	Missense	10/23	-	1
17-45668158-C-T	c.1171C>T	p.P391S	Missense	10/23	-	3
17-45668159-C-T	c.1172C>T	p.P391L	Missense	10/23	-	3
17-45668161-G-T	c.1174G>T	p.E392*	Nonsense	10/23	-	3
17-45668167-G-A	c.1180G>A	p.D394N	Missense	10/23	-	1
17-45668174-G-T	c.1187G>T	p.W396L	Missense	10/23	-	2
17-45668176-A-G	c.1189A>G	p.T397A	Missense	10/23	-	1
17-45668182-T-C	c.1195T>C	p.F399L	Missense	10/23	-	3
17-45668184-T-A	c.1197T>A	p.F399L	Missense	10/23	-	2
17-45668184-T-G	c.1197T>G	p.F399L	Missense	10/23	-	2
17-45668191-G-A	c.1204G>A	p.A402T	Missense	10/23	-	1
17-45668192-C-T	c.1205C>T	p.A402V	Missense	10/23	-	2
17-45668201-C-A	c.1214C>A	p.T405N	Missense	10/23	-	1
17-45668207-C-T	c.1220C>T	p.A407V	Missense	10/23	-	1
17-45668212-G-A	c.1225G>A	p.E409K	Missense	10/23	-	2
17-45668220-C-T	c.1233C>T	p.D411=	Synonymous	10/23	-	1
17-45668221-G-A	c.1234G>A	p.A412T	Missense	10/23	-	1
17-45668224-T-G	c.1237T>G	p.L413V	Missense	10/23	-	1
17-45668238-T-A	c.1251T>A	p.H417Q	Missense	10/23	-	1
17-45668238-T-G	c.1251T>G	p.H417Q	Missense	10/23	-	1
17-45668243-T-C	c.1256T>C	p.I419T	Missense	10/23	-	3
17-45668245-G-A	c.1258G>A	p.E420K	Missense	10/23	-	3
17-45668303-C-T	c.1260+56C>T	-	IntronicSNV	-	10/22	2
17-45668311-G-A	c.1260+64G>A	-	IntronicSNV	-	10/22	1
17-45668320-A-G	c.1260+73A>G	-	IntronicSNV	-	10/22	1
17-45668339-T-C	c.1260+92T>C	-	IntronicSNV	-	10/22	1
17-45668339-T-G	c.1260+92T>G	-	IntronicSNV	-	10/22	2
17-45668373-A-T	c.1260+126A>T	-	IntronicSNV	-	10/22	3
17-45668396-G-A	c.1260+149G>A	-	IntronicSNV	-	10/22	1
17-45668463-C-T	c.1260+216C>T	-	IntronicSNV	-	10/22	1
17-45668509-A-G	c.1260+262A>G	-	IntronicSNV	-	10/22	1
17-45668760-A-C	c.1260+513A>C	-	IntronicSNV	-	10/22	1
17-45668760-A-T	c.1260+513A>T	-	IntronicSNV	-	10/22	1
17-45669115-G-A	c.1261-207G>A	-	IntronicSNV	-	10/22	1
17-45669326-G-T	c.1265G>T	p.S422I	Missense	11/23	-	1
17-45669331-GGC-TGG	c.1270_1272delinsTGG	p.G424W	Missense	11/23	-	1
17-45669333-C-A	c.1272C>A	p.G424=	Synonymous	11/23	-	2
17-45669333-C-G	c.1272C>G	p.G424=	Synonymous	11/23	-	2
17-45669333-C-T	c.1272C>T	p.G424=	Synonymous	11/23	-	2
17-45669334-C-T	c.1273C>T	p.H425Y	Missense	11/23	-	3
17-45669336-T-A	c.1275T>A	p.H425Q	Missense	11/23	-	1
17-45669336-T-G	c.1275T>G	p.H425Q	Missense	11/23	-	1
17-45669338-C-T	c.1277C>T	p.P426L	Missense	11/23	-	1
17-45669341-C-G	c.1280C>G	p.S427C	Missense	11/23	-	3
17-45669343-G-A	c.1282G>A	p.E428K	Missense	11/23	-	2
17-45669345-G-C	c.1284G>C	p.E428D	Missense	11/23	-	1
17-45669345-G-T	c.1284G>T	p.E428D	Missense	11/23	-	1
17-45669347-T-C	c.1286T>C	p.V429A	Missense	11/23	-	2
17-45669347-T-G	c.1286T>G	p.V429G	Missense	11/23	-	1
17-45669349-G-A	c.1288G>A	p.D430N	Missense	11/23	-	2
17-45669351-T-A	c.1290T>A	p.D430E	Missense	11/23	-	2
17-45669351-T-C	c.1290T>C	p.D430=	Synonymous	11/23	-	1
17-45669351-T-G	c.1290T>G	p.D430E	Missense	11/23	-	2
17-45669357-A-C	c.1296A>C	p.I432=	Synonymous	11/23	-	1
17-45669357-A-T	c.1296A>T	p.I432=	Synonymous	11/23	-	2
17-45669358-T-G	c.1297T>G	p.F433V	Missense	11/23	-	1
17-45669359-T-G	c.1298T>G	p.F433C	Missense	11/23	-	30
17-45669362-A-G	c.1301A>G	p.D434G	Missense	11/23	-	1
17-45669364-G-A	c.1303G>A	p.A435T	Missense	11/23	-	1
17-45669370-T-C	c.1309T>C	p.S437P	Missense	11/23	-	1
17-45669371-C-T	c.1310C>T	p.S437L	Missense	11/23	-	1
17-45669372-A-G	c.1311A>G	p.S437=	Synonymous	11/23	-	1
17-45669373-T-G	c.1312T>G	p.Y438D	Missense	11/23	-	1
17-45669375-T-G	c.1314T>G	p.Y438*	Nonsense	11/23	-	1
17-45669379-A-G	c.1318A>G	p.K440E	Missense	11/23	-	1
17-45669380-A-G	c.1319A>G	p.K440R	Missense	11/23	-	2
17-45669383-G-C	c.1322G>C	p.G441A	Missense	11/23	-	1
17-45669385-G-A	c.1324G>A	p.A442T	Missense	11/23	-	1
17-45669391-G-A	c.1330G>A	p.V444I	Missense	11/23	-	1
17-45669397-C-T	c.1336C>T	p.R446*	Nonsense	11/23	-	2
17-45669398-G-A	c.1337G>A	p.R446Q	Missense	11/23	-	3
17-45669401-T-G	c.1340T>G	p.M447R	Missense	11/23	-	1
17-45669403-C-A	c.1342C>A	p.L448M	Missense	11/23	-	1
17-45669406-C-A	c.1345C>A	p.H449N	Missense	11/23	-	1
17-45669410-A-T	c.1349A>T	p.D450V	Missense	11/23	-	1
17-45669411-C-T	c.1350C>T	p.D450=	Synonymous	11/23	-	1
17-45669415-A-T	c.1354A>T	p.I452F	Missense	11/23	-	1
17-45669422-A-T	c.1361A>T	p.D454V	Missense	11/23	-	4
17-45669426-G-A	c.1365G>A	p.K455=	Synonymous	11/23	-	1
17-45669428-TA-T	c.1365+11del	-	IntronicDeletion	-	11/22	1
17-45669428-T-TA	c.1365+11dup	-	IntronicInsertion	-	11/22	1
17-45669444-A-G	c.1365+18A>G	-	IntronicSNV	-	11/22	3
17-45669524-A-C	c.1365+98A>C	-	IntronicSNV	-	11/22	9
17-45669524-A-T	c.1365+98A>T	-	IntronicSNV	-	11/22	7
17-45669788-T-C	c.1366-63T>C	-	IntronicSNV	-	11/22	1
17-45669868-G-A	c.1383G>A	p.M461I	Missense	12/23	-	1
17-45669868-G-C	c.1383G>C	p.M461I	Missense	12/23	-	1
17-45669868-G-T	c.1383G>T	p.M461I	Missense	12/23	-	1
17-45669869-A-T	c.1384A>T	p.N462Y	Missense	12/23	-	1
17-45669878-T-C	c.1393T>C	p.L465=	Synonymous	12/23	-	2
17-45669880-A-G	c.1395A>G	p.L465=	Synonymous	12/23	-	1
17-45669885-A-C	c.1400A>C	p.K467T	Missense	12/23	-	2
17-45669897-A-C	c.1412A>C	p.K471T	Missense	12/23	-	1
17-45669898-G-C	c.1413G>C	p.K471N	Missense	12/23	-	1
17-45669898-G-T	c.1413G>T	p.K471N	Missense	12/23	-	1
17-45669899-A-G	c.1414A>G	p.N472D	Missense	12/23	-	1
17-45669905-G-A	c.1420G>A	p.A474T	Missense	12/23	-	3
17-45669906-C-T	c.1421C>T	p.A474V	Missense	12/23	-	1
17-45669907-C-A	c.1422C>A	p.A474=	Synonymous	12/23	-	1
17-45669907-C-G	c.1422C>G	p.A474=	Synonymous	12/23	-	1
17-45669907-C-T	c.1422C>T	p.A474=	Synonymous	12/23	-	1
17-45669964-C-G	c.1426+53C>G	-	IntronicSNV	-	12/22	3
17-45670312-G-A	c.1426+401G>A	-	IntronicSNV	-	12/22	1
17-45670312-G-C	c.1426+401G>C	-	IntronicSNV	-	12/22	1
17-45670312-G-T	c.1426+401G>T	-	IntronicSNV	-	12/22	1
17-45671107-G-C	c.1426+1196G>C	-	IntronicSNV	-	12/22	1
17-45671321-G-T	c.1426+1410G>T	-	IntronicSNV	-	12/22	1
17-45671344-A-T	c.1426+1433A>T	-	IntronicSNV	-	12/22	1
17-45671506-G-A	c.1426+1595G>A	-	IntronicSNV	-	12/22	1
17-45671869-C-T	c.1427-1850C>T	-	IntronicSNV	-	12/22	1
17-45672200-G-A	c.1427-1519G>A	-	IntronicSNV	-	12/22	1
17-45672200-G-T	c.1427-1519G>T	-	IntronicSNV	-	12/22	1
17-45673721-G-A	c.1429G>A	p.D477N	Missense	13/23	-	2
17-45673721-G-T	c.1429G>T	p.D477Y	Missense	13/23	-	1
17-45673724-C-A	c.1432C>A	p.L478I	Missense	13/23	-	4
17-45673734-G-A	c.1442G>A	p.S481N	Missense	13/23	-	1
17-45673736-T-A	c.1444T>A	p.L482I	Missense	13/23	-	1
17-45673743-A-G	c.1451A>G	p.N484S	Missense	13/23	-	1
17-45673746-C-T	c.1454C>T	p.A485V	Missense	13/23	-	1
17-45673751-G-A	c.1459G>A	p.G487S	Missense	13/23	-	1
17-45673755-A-G	c.1463A>G	p.K488R	Missense	13/23	-	1
17-45673756-A-T	c.1464A>T	p.K488N	Missense	13/23	-	1
17-45673757-C-T	c.1465C>T	p.P489S	Missense	13/23	-	1
17-45673758-C-T	c.1466C>T	p.P489L	Missense	13/23	-	3
17-45673760-A-G	c.1468A>G	p.I490V	Missense	13/23	-	2
17-45673762-A-C	c.1470A>C	p.I490=	Synonymous	13/23	-	1
17-45673762-A-T	c.1470A>T	p.I490=	Synonymous	13/23	-	1
17-45673767-C-T	c.1475C>T	p.A492V	Missense	13/23	-	1
17-45673769-G-A	c.1477G>A	p.V493M	Missense	13/23	-	1
17-45673771-G-T	c.1479G>T	p.V493=	Synonymous	13/23	-	1
17-45673778-A-G	c.1486A>G	p.T496A	Missense	13/23	-	1
17-45673783-G-C	c.1491G>C	p.W497C	Missense	13/23	-	1
17-45673785-C-T	c.1493C>T	p.T498I	Missense	13/23	-	1
17-45673790-C-T	c.1498C>T	p.Q500*	Nonsense	13/23	-	1
17-45673795-G-C	c.1503G>C	p.M501I	Missense	13/23	-	2
17-45673797-G-A	c.1505G>A	p.G502E	Missense	13/23	-	1
17-45673805-C-T	c.1513C>T	p.L505F	Missense	13/23	-	1
17-45673817-G-A	c.1525G>A	p.E509K	Missense	13/23	-	1
17-45673819-AGCT-A	c.1529_1531del	p.A510del	InFrameDeletion	13/23	-	1
17-45674687-A-G	c.1536+859A>G	-	IntronicSNV	-	13/22	2
17-45674687-A-T	c.1536+859A>T	-	IntronicSNV	-	13/22	2
17-45675682-T-TA	c.1537-1352dup	-	IntronicInsertion	-	13/22	1
17-45675781-G-A	c.1537-1261G>A	-	IntronicSNV	-	13/22	2
17-45675781-G-C	c.1537-1261G>C	-	IntronicSNV	-	13/22	2
17-45676526-G-A	c.1537-516G>A	-	IntronicSNV	-	13/22	1
17-45676526-G-C	c.1537-516G>C	-	IntronicSNV	-	13/22	1
17-45676760-C-T	c.1537-282C>T	-	IntronicSNV	-	13/22	2
17-45677042-G-C	c.1537G>C	p.V513L	Missense	14/23	-	1
17-45677042-G-T	c.1537G>T	p.V513L	Missense	14/23	-	1
17-45677045-G-A	c.1540G>A	p.E514K	Missense	14/23	-	1
17-45677045-G-C	c.1540G>C	p.E514Q	Missense	14/23	-	1
17-45677062-G-C	c.1557G>C	p.L519F	Missense	14/23	-	2
17-45677062-G-T	c.1557G>T	p.L519F	Missense	14/23	-	1
17-45677064-G-A	c.1559G>A	p.R520K	Missense	14/23	-	1
17-45677071-C-A	c.1566C>A	p.S522=	Synonymous	14/23	-	1
17-45677071-C-G	c.1566C>G	p.S522=	Synonymous	14/23	-	3
17-45677071-C-T	c.1566C>T	p.S522=	Synonymous	14/23	-	1
17-45677075-A-G	c.1570A>G	p.K524E	Missense	14/23	-	1
17-45677078-A-G	c.1573A>G	p.K525E	Missense	14/23	-	1
17-45677082-T-A	c.1577T>A	p.F526Y	Missense	14/23	-	1
17-45677083-TC-T	c.1578del	p.C527Vfs*31	Frameshift	14/23	-	1
17-45677088-C-T	c.1583C>T	p.A528V	Missense	14/23	-	1
17-45677192-C-CT	c.1600+99dup	-	IntronicInsertion	-	14/22	1
17-45677192-CT-C	c.1600+99del	-	IntronicDeletion	-	14/22	1
17-45677308-CCA-C	c.1600+203_1600+204del	-	IntronicDeletion	-	14/22	1
17-45678408-G-A	c.1601-566G>A	-	IntronicSNV	-	14/22	1
17-45678579-C-T	c.1601-395C>T	-	IntronicSNV	-	14/22	1
17-45678974-G-A	c.1601G>A	p.G534D	Missense	15/23	-	1
17-45678974-GGTGAAGATTGTCCCCAGTGGATGGTCCCTATCACAA-G	c.1601_1636del	p.G534_I546delinsV	SpliceAcceptorDeletion	15/23	-	1
17-45678977-A-C	c.1604A>C	p.E535A	Missense	15/23	-	1
17-45678983-G-T	c.1610G>T	p.C537F	Missense	15/23	-	1
17-45678987-C-A	c.1614C>A	p.P538=	Synonymous	15/23	-	1
17-45678987-C-G	c.1614C>G	p.P538=	Synonymous	15/23	-	1
17-45678987-C-T	c.1614C>T	p.P538=	Synonymous	15/23	-	1
17-45678989-A-G	c.1616A>G	p.Q539R	Missense	15/23	-	1
17-45678995-T-C	c.1622T>C	p.M541T	Missense	15/23	-	2
17-45679007-C-T	c.1634C>T	p.T545I	Missense	15/23	-	1
17-45679012-T-A	c.1639T>A	p.S547T	Missense	15/23	-	1
17-45679013-C-G	c.1640C>G	p.S547C	Missense	15/23	-	1
17-45679015-A-G	c.1642A>G	p.T548A	Missense	15/23	-	1
17-45679016-C-A	c.1643C>A	p.T548N	Missense	15/23	-	1
17-45679019-G-T	c.1646G>T	p.S549I	Missense	15/23	-	1
17-45679024-G-A	c.1651G>A	p.D551N	Missense	15/23	-	1
17-45679025-A-C	c.1652A>C	p.D551A	Missense	15/23	-	3
17-45679027-C-T	c.1654C>T	p.P552S	Missense	15/23	-	1
17-45679042-C-A	c.1669C>A	p.L557I	Missense	15/23	-	1
17-45679046-A-G	c.1673A>G	p.K558R	Missense	15/23	-	1
17-45679050-T-C	c.1677T>C	p.I559=	Synonymous	15/23	-	1
17-45679059-C-A	c.1686C>A	p.D562E	Missense	15/23	-	1
17-45679059-C-G	c.1686C>G	p.D562E	Missense	15/23	-	1
17-45679061-A-G	c.1688A>G	p.K563R	Missense	15/23	-	1
17-45679062-G-A	c.1689G>A	p.K563=	Synonymous	15/23	-	1
17-45679064-C-T	c.1691C>T	p.P564L	Missense	15/23	-	1
17-45679066-G-A	c.1693G>A	p.E565K	Missense	15/23	-	1
17-45679071-G-A	c.1698G>A	p.M566I	Missense	15/23	-	1
17-45679071-G-T	c.1698G>T	p.M566I	Missense	15/23	-	1
17-45679075-GTG-ATC	c.1702_1704delinsATC	p.V568I	Missense	15/23	-	1
17-45679078-G-T	c.1705G>T	p.V569F	Missense	15/23	-	1
17-45679083-G-GT	c.1710_1711insT	p.K571*	Nonsense	15/23	-	1
17-45679083-GAAA-G	c.1713_1715del	p.K571del	InFrameDeletion	15/23	-	1
17-45679097-C-T	c.1724C>T	p.P575L	Missense	15/23	-	1
17-45679102-C-A	c.1729C>A	p.Q577K	Missense	15/23	-	1
17-45679106-G-A	c.1733G>A	p.W578*	Nonsense	15/23	-	1
17-45679107-G-A	c.1734G>A	p.W578*	Nonsense	15/23	-	1
17-45679113-G-A	c.1740G>A	p.K580=	Synonymous	15/23	-	1
17-45679113-G-C	c.1740G>C	p.K580N	Missense	15/23	-	1
17-45679203-GA-G	c.1740+101del	-	IntronicDeletion	-	15/22	1
17-45681283-A-C	c.1743A>C	p.L581F	Missense	16/23	-	1
17-45681283-A-T	c.1743A>T	p.L581F	Missense	16/23	-	1
17-45681289-A-C	c.1749A>C	p.L583F	Missense	16/23	-	1
17-45681289-A-T	c.1749A>T	p.L583F	Missense	16/23	-	1
17-45681291-G-C	c.1751G>C	p.G584A	Missense	16/23	-	1
17-45681295-A-C	c.1755A>C	p.T585=	Synonymous	16/23	-	2
17-45681295-A-G	c.1755A>G	p.T585=	Synonymous	16/23	-	1
17-45681295-A-T	c.1755A>T	p.T585=	Synonymous	16/23	-	1
17-45681307-T-C	c.1767T>C	p.Y589=	Synonymous	16/23	-	1
17-45681308-C-T	c.1768C>T	p.R590W	Missense	16/23	-	1
17-45681309-G-A	c.1769G>A	p.R590Q	Missense	16/23	-	1
17-45681321-G-A	c.1781G>A	p.S594N	Missense	16/23	-	1
17-45681325-T-A	c.1785T>A	p.S595=	Synonymous	16/23	-	1
17-45681325-T-C	c.1785T>C	p.S595=	Synonymous	16/23	-	1
17-45681325-T-G	c.1785T>G	p.S595=	Synonymous	16/23	-	1
17-45681329-A-G	c.1789A>G	p.M597V	Missense	16/23	-	1
17-45681335-G-A	c.1795G>A	p.E599K	Missense	16/23	-	3
17-45681338-A-C	c.1798A>C	p.S600R	Missense	16/23	-	1
17-45681344-T-C	c.1804T>C	p.L602=	Synonymous	16/23	-	2
17-45681346-A-G	c.1806A>G	p.L602=	Synonymous	16/23	-	2
17-45681352-C-T	c.1812C>T	p.G604=	Synonymous	16/23	-	1
17-45681356-C-T	c.1816C>T	p.R606C	Missense	16/23	-	4
17-45681357-G-A	c.1817G>A	p.R606H	Missense	16/23	-	1
17-45681359-G-A	c.1819G>A	p.D607N	Missense	16/23	-	1
17-45681368-C-T	c.1828C>T	p.L610=	Synonymous	16/23	-	1
17-45681370-G-A	c.1830G>A	p.L610=	Synonymous	16/23	-	1
17-45681370-G-C	c.1830G>C	p.L610=	Synonymous	16/23	-	1
17-45681370-G-T	c.1830G>T	p.L610=	Synonymous	16/23	-	1
17-45681372-C-T	c.1832C>T	p.P611L	Missense	16/23	-	1
17-45681373-C-T	c.1833C>T	p.P611=	Synonymous	16/23	-	1
17-45681376-T-A	c.1836T>A	p.P612=	Synonymous	16/23	-	1
17-45681376-T-C	c.1836T>C	p.P612=	Synonymous	16/23	-	1
17-45681376-T-G	c.1836T>G	p.P612=	Synonymous	16/23	-	1
17-45681379-G-T	c.1839G>T	p.V613=	Synonymous	16/23	-	3
17-45681384-G-A	c.1844G>A	p.R615Q	Missense	16/23	-	3
17-45681397-G-A	c.1857G>A	p.Q619=	Synonymous	16/23	-	1
17-45681398-A-G	c.1858A>G	p.N620D	Missense	16/23	-	1
17-45681402-A-G	c.1862A>G	p.D621G	Missense	16/23	-	1
17-45681402-A-T	c.1862A>T	p.D621V	Missense	16/23	-	1
17-45681412-C-T	c.1872C>T	p.S624=	Synonymous	16/23	-	1
17-45681414-T-A	c.1874T>A	p.L625*	Nonsense	16/23	-	1
17-45682700-C-A	c.1877C>A	p.A626D	Missense	17/23	-	1
17-45682700-C-T	c.1877C>T	p.A626V	Missense	17/23	-	1
17-45682708-G-A	c.1885G>A	p.G629R	Missense	17/23	-	1
17-45682708-G-C	c.1885G>C	p.G629R	Missense	17/23	-	1
17-45682710-A-C	c.1887A>C	p.G629=	Synonymous	17/23	-	2
17-45682710-A-G	c.1887A>G	p.G629=	Synonymous	17/23	-	1
17-45682710-A-T	c.1887A>T	p.G629=	Synonymous	17/23	-	1
17-45682711-AT-GC	c.1888_1889delinsGC	p.I630A	Missense	17/23	-	1
17-45682715-T-A	c.1892T>A	p.I631N	Missense	17/23	-	1
17-45682723-G-A	c.1900G>A	p.V634I	Missense	17/23	-	1
17-45682724-T-C	c.1901T>C	p.V634A	Missense	17/23	-	1
17-45682729-G-A	c.1906G>A	p.V636I	Missense	17/23	-	1
17-45682732-CTA-TTT	c.1909_1911delinsTTT	p.L637F	Missense	17/23	-	1
17-45682734-A-G	c.1911A>G	p.L637=	Synonymous	17/23	-	1
17-45682744-G-C	c.1921G>C	p.E641Q	Missense	17/23	-	1
17-45682745-A-G	c.1922A>G	p.E641G	Missense	17/23	-	3
17-45682749-T-G	c.1926T>G	p.A642=	Synonymous	17/23	-	1
17-45682753-GTG-ATC	c.1930_1932delinsATC	p.V644I	Missense	17/23	-	1
17-45682758-T-C	c.1935T>C	p.N645=	Synonymous	17/23	-	1
17-45682761-G-A	c.1938G>A	p.E646=	Synonymous	17/23	-	1
17-45682764-C-T	c.1941C>T	p.P647=	Synonymous	17/23	-	1
17-45682765-A-C	c.1942A>C	p.N648H	Missense	17/23	-	1
17-45682765-A-G	c.1942A>G	p.N648D	Missense	17/23	-	1
17-45682767-T-A	c.1944T>A	p.N648K	Missense	17/23	-	1
17-45682767-T-G	c.1944T>G	p.N648K	Missense	17/23	-	1
17-45682771-AC-GG	c.1948_1949delinsGG	p.T650G	Missense	17/23	-	1
17-45682778-G-C	c.1955G>C	p.W652S	Missense	17/23	-	1
17-45682789-AG-TA	c.1966_1967delinsTA	p.S656Y	Missense	17/23	-	1
17-45682790-G-T	c.1967G>T	p.S656I	Missense	17/23	-	1
17-45682795-A-T	c.1972A>T	p.N658Y	Missense	17/23	-	1
17-45682802-G-A	c.1979G>A	p.G660E	Missense	17/23	-	1
17-45682807-C-T	c.1984C>T	p.L662F	Missense	17/23	-	3
17-45682809-C-A	c.1986C>A	p.L662=	Synonymous	17/23	-	2
17-45682809-C-G	c.1986C>G	p.L662=	Synonymous	17/23	-	2
17-45682809-C-T	c.1986C>T	p.L662=	Synonymous	17/23	-	4
17-45682811-C-A	c.1988C>A	p.S663*	Nonsense	17/23	-	1
17-45682811-C-G	c.1988C>G	p.S663*	Nonsense	17/23	-	1
17-45682811-C-T	c.1988C>T	p.S663L	Missense	17/23	-	1
17-45682823-C-G	c.2000C>G	p.S667C	Missense	17/23	-	1
17-45682828-A-G	c.2005A>G	p.T669A	Missense	17/23	-	3
17-45682843-G-T	c.2020G>T	p.E674*	Nonsense	17/23	-	2
17-45682845-A-C	c.2022A>C	p.E674D	Missense	17/23	-	1
17-45682845-A-T	c.2022A>T	p.E674D	Missense	17/23	-	1
17-45682852-G-C	c.2029G>C	p.E677Q	Missense	17/23	-	1
17-45682860-G-A	c.2037G>A	p.V679=	Synonymous	17/23	-	2
17-45682860-G-C	c.2037G>C	p.V679=	Synonymous	17/23	-	3
17-45682860-G-T	c.2037G>T	p.V679=	Synonymous	17/23	-	2
17-45682864-G-T	c.2041G>T	p.D681Y	Missense	17/23	-	1
17-45682876-C-G	c.2053C>G	p.P685A	Missense	17/23	-	1
17-45682880-T-C	c.2057T>C	p.I686T	Missense	17/23	-	4
17-45682884-G-A	c.2061G>A	p.G687=	Synonymous	17/23	-	1
17-45682884-G-C	c.2061G>C	p.G687=	Synonymous	17/23	-	1
17-45682884-G-T	c.2061G>T	p.G687=	Synonymous	17/23	-	1
17-45682885-G-C	c.2062G>C	p.E688Q	Missense	17/23	-	1
17-45682887-G-C	c.2064G>C	p.E688D	Missense	17/23	-	1
17-45682887-G-T	c.2064G>T	p.E688D	Missense	17/23	-	1
17-45682892-T-A	c.2069T>A	p.L690Q	Missense	17/23	-	1
17-45682891-C-T	c.2068C>T	p.L690=	Synonymous	17/23	-	1
17-45682893-G-A	c.2070G>A	p.L690=	Synonymous	17/23	-	1
17-45682893-G-C	c.2070G>C	p.L690=	Synonymous	17/23	-	1
17-45682893-G-T	c.2070G>T	p.L690=	Synonymous	17/23	-	1
17-45682899-G-A	c.2076G>A	p.W692*	Nonsense	17/23	-	2
17-45682903-C-G	c.2080C>G	p.P694A	Missense	17/23	-	1
17-45682910-C-G	c.2087C>G	p.P696R	Missense	17/23	-	1
17-45682910-C-T	c.2087C>T	p.P696L	Missense	17/23	-	1
17-45682911-T-C	c.2088T>C	p.P696=	Synonymous	17/23	-	1
17-45682916-A-G	c.2093A>G	p.E698G	Missense	17/23	-	1
17-45684716-G-A	c.2095+1798G>A	-	IntronicSNV	-	17/22	1
17-45686127-G-C	c.2095+3209G>C	-	IntronicSNV	-	17/22	1
17-45686127-G-T	c.2095+3209G>T	-	IntronicSNV	-	17/22	1
17-45686126-AG-A	c.2095+3215del	-	IntronicDeletion	-	17/22	1
17-45687760-T-G	c.2096-2066T>G	-	IntronicSNV	-	17/22	1
17-45687767-G-A	c.2096-2059G>A	-	IntronicSNV	-	17/22	1
17-45687767-G-C	c.2096-2059G>C	-	IntronicSNV	-	17/22	1
17-45687767-G-T	c.2096-2059G>T	-	IntronicSNV	-	17/22	1
17-45689828-C-G	c.2098C>G	p.H700D	Missense	18/23	-	1
17-45689833-C-A	c.2103C>A	p.L701=	Synonymous	18/23	-	1
17-45689833-C-G	c.2103C>G	p.L701=	Synonymous	18/23	-	1
17-45689833-C-T	c.2103C>T	p.L701=	Synonymous	18/23	-	1
17-45689834-G-A	c.2104G>A	p.D702N	Missense	18/23	-	1
17-45689834-G-T	c.2104G>T	p.D702Y	Missense	18/23	-	1
17-45689839-A-G	c.2109A>G	p.A703=	Synonymous	18/23	-	1
17-45689846-AG-CA	c.2116_2117delinsCA	p.R706Q	Missense	18/23	-	1
17-45689847-G-C	c.2117G>C	p.R706T	Missense	18/23	-	1
17-45689848-G-A	c.2118G>A	p.R706=	Synonymous	18/23	-	1
17-45689850-G-A	c.2120G>A	p.G707D	Missense	18/23	-	1
17-45689850-G-T	c.2120G>T	p.G707V	Missense	18/23	-	1
17-45689858-CTG-TTT	c.2128_2130delinsTTT	p.L710F	Missense	18/23	-	1
17-45689864-A-C	c.2134A>C	p.K712Q	Missense	18/23	-	1
17-45689866-A-G	c.2136A>G	p.K712=	Synonymous	18/23	-	1
17-45689873-A-G	c.2143A>G	p.K715E	Missense	18/23	-	1
17-45689877-C-T	c.2147C>T	p.A716V	Missense	18/23	-	1
17-45689885-A-G	c.2155A>G	p.K719E	Missense	18/23	-	1
17-45689892-C-T	c.2162C>T	p.T721M	Missense	18/23	-	3
17-45689893-G-A	c.2163G>A	p.T721=	Synonymous	18/23	-	1
17-45689893-G-C	c.2163G>C	p.T721=	Synonymous	18/23	-	1
17-45689893-G-T	c.2163G>T	p.T721=	Synonymous	18/23	-	2
17-45689897-G-A	c.2167G>A	p.E723K	Missense	18/23	-	2
17-45689900-G-A	c.2170G>A	p.E724K	Missense	18/23	-	1
17-45689902-A-C	c.2172A>C	p.E724D	Missense	18/23	-	1
17-45689902-A-T	c.2172A>T	p.E724D	Missense	18/23	-	1
17-45689905-C-A	c.2175C>A	p.A725=	Synonymous	18/23	-	1
17-45689905-C-G	c.2175C>G	p.A725=	Synonymous	18/23	-	1
17-45689905-C-T	c.2175C>T	p.A725=	Synonymous	18/23	-	1
17-45689907-G-A	c.2177G>A	p.R726H	Missense	18/23	-	1
17-45689909-CGT-TGG	c.2179_2181delinsTGG	p.R727W	Missense	18/23	-	1
17-45689910-G-A	c.2180G>A	p.R727H	Missense	18/23	-	2
17-45689912-C-T	c.2182C>T	p.R728W	Missense	18/23	-	1
17-45689913-G-A	c.2183G>A	p.R728Q	Missense	18/23	-	1
17-45689916-T-G	c.2186T>G	p.F729C	Missense	18/23	-	2
17-45689919-A-T	c.2189A>T	p.K730M	Missense	18/23	-	1
17-45689920-G-A	c.2190G>A	p.K730=	Synonymous	18/23	-	1
17-45689923-C-T	c.2193C>T	p.D731=	Synonymous	18/23	-	1
17-45689926-C-T	c.2196C>T	p.H732=	Synonymous	18/23	-	1
17-45689927-G-A	c.2197G>A	p.V733M	Missense	18/23	-	2
17-45689930-G-T	c.2200G>T	p.E734*	Nonsense	18/23	-	4
17-45689934-GA-AC	c.2204_2205delinsAC	p.G735D	Missense	18/23	-	1
17-45689945-C-G	c.2215C>G	p.L739V	Missense	18/23	-	1
17-45689949-C-G	c.2219C>G	p.S740C	Missense	18/23	-	1
17-45689949-C-T	c.2219C>T	p.S740F	Missense	18/23	-	3
17-45689950-C-A	c.2220C>A	p.S740=	Synonymous	18/23	-	1
17-45689950-C-T	c.2220C>T	p.S740=	Synonymous	18/23	-	1
17-45689954-G-T	c.2224G>T	p.D742Y	Missense	18/23	-	1
17-45689957-C-G	c.2227C>G	p.L743V	Missense	18/23	-	8
17-45689965-T-C	c.2235T>C	p.S745=	Synonymous	18/23	-	1
17-45690029-CT-C	c.2238+79del	-	IntronicDeletion	-	18/22	2
17-45690351-A-T	c.2238+383A>T	-	IntronicSNV	-	18/22	1
17-45691035-G-A	c.2239G>A	p.V747I	Missense	19/23	-	2
17-45691040-T-A	c.2244T>A	p.Y748*	Nonsense	19/23	-	1
17-45691041-C-T	c.2245C>T	p.L749=	Synonymous	19/23	-	1
17-45691042-T-C	c.2246T>C	p.L749P	Missense	19/23	-	1
17-45691044-A-G	c.2248A>G	p.T750A	Missense	19/23	-	1
17-45691055-G-A	c.2259G>A	p.K753=	Synonymous	19/23	-	1
17-45691064-T-C	c.2268T>C	p.D756=	Synonymous	19/23	-	1
17-45691068-A-G	c.2272A>G	p.T758A	Missense	19/23	-	1
17-45691073-T-A	c.2277T>A	p.T759=	Synonymous	19/23	-	1
17-45691073-T-C	c.2277T>C	p.T759=	Synonymous	19/23	-	1
17-45691073-T-G	c.2277T>G	p.T759=	Synonymous	19/23	-	1
17-45691079-T-C	c.2283T>C	p.D761=	Synonymous	19/23	-	1
17-45691080-A-G	c.2284A>G	p.I762V	Missense	19/23	-	2
17-45695611-A-C	c.2296-105A>C	-	IntronicSNV	-	19/22	2
17-45695717-T-C	c.2297T>C	p.L766P	Missense	20/23	-	1
17-45695718-T-C	c.2298T>C	p.L766=	Synonymous	20/23	-	1
17-45695719-C-T	c.2299C>T	p.H767Y	Missense	20/23	-	1
17-45695722-A-C	c.2302A>C	p.K768Q	Missense	20/23	-	1
17-45695723-A-C	c.2303A>C	p.K768T	Missense	20/23	-	1
17-45695729-C-T	c.2309C>T	p.A770V	Missense	20/23	-	2
17-45695735-T-C	c.2315T>C	p.M772T	Missense	20/23	-	3
17-45695737-C-T	c.2317C>T	p.Q773*	Nonsense	20/23	-	2
17-45695743-G-T	c.2323G>T	p.E775*	Nonsense	20/23	-	1
17-45695745-G-A	c.2325G>A	p.E775=	Synonymous	20/23	-	1
17-45695750-A-T	c.2330A>T	p.N777I	Missense	20/23	-	1
17-45695752-CGA-AGC	c.2332_2334delinsAGC	p.R778S	Missense	20/23	-	1
17-45695753-G-A	c.2333G>A	p.R778Q	Missense	20/23	-	2
17-45695757-C-A	c.2337C>A	p.I779=	Synonymous	20/23	-	2
17-45695757-C-T	c.2337C>T	p.I779=	Synonymous	20/23	-	2
17-45695761-AG-CC	c.2341_2342delinsCC	p.R781P	Missense	20/23	-	1
17-45695764-G-A	c.2344G>A	p.V782I	Missense	20/23	-	2
17-45695769-T-TGTA	c.2350_2351insTAG	p.L783_G784insV	InFrameInsertion	20/23	-	1
17-45695773-G-A	c.2353G>A	p.A785T	Missense	20/23	-	3
17-45695781-T-G	c.2361T>G	p.L787=	Synonymous	20/23	-	1
17-45695782-T-C	c.2362T>C	p.L788=	Synonymous	20/23	-	1
17-45695784-G-A	c.2364G>A	p.L788=	Synonymous	20/23	-	1
17-45695788-G-A	c.2368G>A	p.D790N	Missense	20/23	-	1
17-45695797-C-G	c.2377C>G	p.Q793E	Missense	20/23	-	1
17-45695797-C-T	c.2377C>T	p.Q793*	Nonsense	20/23	-	1
17-45695803-G-A	c.2383G>A	p.V795I	Missense	20/23	-	1
17-45695805-C-T	c.2385C>T	p.V795=	Synonymous	20/23	-	2
17-45695816-C-T	c.2396C>T	p.A799V	Missense	20/23	-	1
17-45695818-C-T	c.2398C>T	p.L800F	Missense	20/23	-	1
17-45695822-C-T	c.2402C>T	p.S801L	Missense	20/23	-	3
17-45695832-C-T	c.2403+9C>T	-	IntronicSNV	-	20/22	13
17-45695904-T-C	c.2403+81T>C	-	IntronicSNV	-	20/22	1
17-45695914-T-C	c.2403+91T>C	-	IntronicSNV	-	20/22	9
17-45696384-C-T	c.2413C>T	p.R805C	Missense	21/23	-	3
17-45696385-G-A	c.2414G>A	p.R805H	Missense	21/23	-	1
17-45696385-G-T	c.2414G>T	p.R805L	Missense	21/23	-	1
17-45696385-GT-AA	c.2414_2415delinsAA	p.R805Q	Missense	21/23	-	1
17-45696391-A-G	c.2420A>G	p.Q807R	Missense	21/23	-	2
17-45696397-CTG-C	c.2428_2429del	p.V810Ifs*14	Frameshift	21/23	-	1
17-45696400-T-C	c.2429T>C	p.V810A	Missense	21/23	-	1
17-45696403-C-T	c.2432C>T	p.S811L	Missense	21/23	-	1
17-45696409-T-C	c.2438T>C	p.I813T	Missense	21/23	-	4
17-45696422-T-A	c.2451T>A	p.A817=	Synonymous	21/23	-	2
17-45696422-T-C	c.2451T>C	p.A817=	Synonymous	21/23	-	2
17-45696422-T-G	c.2451T>G	p.A817=	Synonymous	21/23	-	2
17-45696424-G-C	c.2453G>C	p.G818A	Missense	21/23	-	1
17-45696435-C-T	c.2464C>T	p.H822Y	Missense	21/23	-	2
17-45696438-G-A	c.2467G>A	p.G823S	Missense	21/23	-	1
17-45696442-G-C	c.2471G>C	p.R824T	Missense	21/23	-	1
17-45696448-C-T	c.2477C>T	p.A826V	Missense	21/23	-	1
17-45696458-A-G	c.2487A>G	p.K829=	Synonymous	21/23	-	1
17-45696466-A-G	c.2495A>G	p.K832R	Missense	21/23	-	2
17-45696469-A-G	c.2498A>G	p.D833G	Missense	21/23	-	1
17-45696470-C-A	c.2499C>A	p.D833E	Missense	21/23	-	1
17-45696470-C-G	c.2499C>G	p.D833E	Missense	21/23	-	1
17-45696476-G-C	c.2505G>C	p.W835C	Missense	21/23	-	1
17-45696476-G-T	c.2505G>T	p.W835C	Missense	21/23	-	1
17-45696480-G-A	c.2509G>A	p.E837K	Missense	21/23	-	1
17-45696492-C-A	c.2521C>A	p.R841=	Synonymous	21/23	-	2
17-45696497-C-T	c.2526C>T	p.Y842=	Synonymous	21/23	-	1
17-45696505-G-A	c.2534G>A	p.G845E	Missense	21/23	-	2
17-45696517-C-A	c.2546C>A	p.S849Y	Missense	21/23	-	1
17-45696530-G-A	c.2559G>A	p.K853=	Synonymous	21/23	-	1
17-45696643-GGT-G	c.2559+115_2559+116del	-	IntronicDeletion	-	21/22	1
17-45697103-C-G	c.2560C>G	p.L854V	Missense	22/23	-	1
17-45697103-C-T	c.2560C>T	p.L854=	Synonymous	22/23	-	1
17-45697105-A-C	c.2562A>C	p.L854=	Synonymous	22/23	-	1
17-45697105-A-G	c.2562A>G	p.L854=	Synonymous	22/23	-	1
17-45697105-A-T	c.2562A>T	p.L854=	Synonymous	22/23	-	1
17-45697111-T-A	c.2568T>A	p.V856=	Synonymous	22/23	-	1
17-45697112-G-C	c.2569G>C	p.E857Q	Missense	22/23	-	1
17-45697122-C-T	c.2579C>T	p.A860V	Missense	22/23	-	1
17-45697127-G-A	c.2584G>A	p.D862N	Missense	22/23	-	1
17-45697131-A-G	c.2588A>G	p.K863R	Missense	22/23	-	1
17-45697132-A-G	c.2589A>G	p.K863=	Synonymous	22/23	-	1
17-45697139-G-A	c.2596G>A	p.G866R	Missense	22/23	-	1
17-45697139-G-C	c.2596G>C	p.G866R	Missense	22/23	-	1
17-45697140-G-GA	c.2598dup	p.E867Rfs*3	Frameshift	22/23	-	1
17-45697549-C-A	c.2607+399C>A	-	IntronicSNV	-	22/22	1
17-45697549-C-G	c.2607+399C>G	-	IntronicSNV	-	22/22	1
17-45698016-G-C	c.2607+866G>C	-	IntronicSNV	-	22/22	1
17-45698175-G-A	c.2608-959G>A	-	IntronicSNV	-	22/22	3
17-45698483-G-A	c.2608-651G>A	-	IntronicSNV	-	22/22	1
17-45699143-G-A	c.2617G>A	p.E873K	Missense	23/23	-	1
17-45699143-G-C	c.2617G>C	p.E873Q	Missense	23/23	-	4
17-45699159-C-G	c.2633C>G	p.P878R	Missense	23/23	-	1
17-45699167-G-C	c.2641G>C	p.E881Q	Missense	23/23	-	1
17-45699199-T-C	c.2673T>C	p.I891=	Synonymous	23/23	-	1
17-45699207-A-G	c.2681A>G	p.N894S	Missense	23/23	-	1
17-45699214-C-T	c.2688C>T	p.A896=	Synonymous	23/23	-	1
17-45699225-G-A	c.2699G>A	p.R900Q	Missense	23/23	-	1
17-45699229-T-C	c.2703T>C	p.D901=	Synonymous	23/23	-	1
17-45699233-G-A	c.2707G>A	p.E903K	Missense	23/23	-	1
17-45699233-G-T	c.2707G>T	p.E903*	Nonsense	23/23	-	1
17-45699255-T-C	c.2729T>C	p.L910P	Missense	23/23	-	1
17-45699267-C-T	c.2741C>T	p.A914V	Missense	23/23	-	2
17-45699275-C-G	c.2749C>G	p.P917A	Missense	23/23	-	1
17-45699275-C-T	c.2749C>T	p.P917S	Missense	23/23	-	1
17-45699276-C-A	c.2750C>A	p.P917H	Missense	23/23	-	1
17-45699279-C-G	c.2753C>G	p.T918R	Missense	23/23	-	1
17-45700138-T-C	c.*852T>C	-	3-UTRSNV	23/23	-	1
17-45700229-C-T	c.*943C>T	-	3-UTRSNV	23/23	-	1
17-45700384-C-CCTA	c.1099_1101dup	-	3-UTRInsertion	23/23	-	7
17-45700388-A-C	c.*1102A>C	-	3-UTRSNV	23/23	-	1
17-45700408-C-G	c.*1122C>G	-	3-UTRSNV	23/23	-	1