NCAM2

NCAM2 neural cell adhesion molecule 2

Annotation transcript: NM_004540.5

1759 unique variant annotations were identified in 529 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
21-22370887-C-T	c.6C>T	p.S2=	Synonymous	1/18	-	1
21-22370891-C-A	c.10C>A	p.L4I	Missense	1/18	-	1
21-22370893-C-A	c.12C>A	p.L4=	Synonymous	1/18	-	1
21-22370893-C-G	c.12C>G	p.L4=	Synonymous	1/18	-	1
21-22370893-C-T	c.12C>T	p.L4=	Synonymous	1/18	-	1
21-22370900-T-C	c.19T>C	p.F7L	Missense	1/18	-	2
21-22370902-C-A	c.21C>A	p.F7L	Missense	1/18	-	1
21-22370902-C-G	c.21C>G	p.F7L	Missense	1/18	-	1
21-22370901-T-C	c.20T>C	p.F7S	Missense	1/18	-	1
21-22370902-C-T	c.21C>T	p.F7=	Synonymous	1/18	-	2
21-22370903-T-C	c.22T>C	p.Y8H	Missense	1/18	-	1
21-22370909-C-A	c.28C>A	p.L10M	Missense	1/18	-	1
21-22370910-T-G	c.29T>G	p.L10R	Missense	1/18	-	1
21-22370919-T-G	c.38T>G	p.L13R	Missense	1/18	-	1
21-22370921-G-A	c.40G>A	p.V14I	Missense	1/18	-	1
21-22370925-G-A	c.44G>A	p.S15N	Missense	1/18	-	1
21-22370928-G-A	c.47G>A	p.S16N	Missense	1/18	-	1
21-22370930-G-T	c.49G>T	p.G17W	Missense	1/18	-	1
21-22370933-C-T	c.52C>T	p.Q18*	Nonsense	1/18	-	1
21-22370936-G-A	c.55G>A	p.A19T	Missense	1/18	-	1
21-22370937-G-A	c.55+1G>A	-	IntronicSNV	-	1/17	1
21-22371166-G-A	c.55+230G>A	-	IntronicSNV	-	1/17	1
21-22371752-G-T	c.55+816G>T	-	IntronicSNV	-	1/17	1
21-22371848-G-A	c.55+912G>A	-	IntronicSNV	-	1/17	1
21-22372723-T-C	c.55+1787T>C	-	IntronicSNV	-	1/17	1
21-22373024-T-C	c.55+2088T>C	-	IntronicSNV	-	1/17	1
21-22373236-A-G	c.55+2300A>G	-	IntronicSNV	-	1/17	1
21-22374031-C-T	c.55+3095C>T	-	IntronicSNV	-	1/17	1
21-22376068-C-A	c.55+5132C>A	-	IntronicSNV	-	1/17	1
21-22376068-C-T	c.55+5132C>T	-	IntronicSNV	-	1/17	1
21-22388187-AT-A	c.55+17261del	-	IntronicDeletion	-	1/17	1
21-22391313-T-C	c.55+20377T>C	-	IntronicSNV	-	1/17	1
21-22397434-G-A	c.55+26498G>A	-	IntronicSNV	-	1/17	1
21-22397434-G-C	c.55+26498G>C	-	IntronicSNV	-	1/17	1
21-22399320-G-A	c.55+28384G>A	-	IntronicSNV	-	1/17	1
21-22403788-T-C	c.55+32852T>C	-	IntronicSNV	-	1/17	1
21-22403964-T-C	c.55+33028T>C	-	IntronicSNV	-	1/17	1
21-22406217-G-A	c.55+35281G>A	-	IntronicSNV	-	1/17	1
21-22412689-T-C	c.55+41753T>C	-	IntronicSNV	-	1/17	1
21-22412920-TA-T	c.55+41994del	-	IntronicDeletion	-	1/17	1
21-22413741-C-T	c.55+42805C>T	-	IntronicSNV	-	1/17	1
21-22415023-T-C	c.55+44087T>C	-	IntronicSNV	-	1/17	1
21-22421044-C-A	c.55+50108C>A	-	IntronicSNV	-	1/17	1
21-22422507-T-C	c.55+51571T>C	-	IntronicSNV	-	1/17	1
21-22422553-A-C	c.55+51617A>C	-	IntronicSNV	-	1/17	1
21-22428515-C-G	c.55+57579C>G	-	IntronicSNV	-	1/17	1
21-22430796-C-T	c.55+59860C>T	-	IntronicSNV	-	1/17	1
21-22433180-C-A	c.55+62244C>A	-	IntronicSNV	-	1/17	1
21-22433181-A-T	c.55+62245A>T	-	IntronicSNV	-	1/17	1
21-22433521-C-T	c.55+62585C>T	-	IntronicSNV	-	1/17	1
21-22434879-G-A	c.55+63943G>A	-	IntronicSNV	-	1/17	1
21-22434879-G-C	c.55+63943G>C	-	IntronicSNV	-	1/17	1
21-22436984-G-A	c.55+66048G>A	-	IntronicSNV	-	1/17	1
21-22441607-C-G	c.55+70671C>G	-	IntronicSNV	-	1/17	1
21-22443788-TA-T	c.55+72861del	-	IntronicDeletion	-	1/17	1
21-22446238-G-C	c.55+75302G>C	-	IntronicSNV	-	1/17	1
21-22446238-G-T	c.55+75302G>T	-	IntronicSNV	-	1/17	1
21-22447828-C-T	c.55+76892C>T	-	IntronicSNV	-	1/17	1
21-22449930-G-C	c.55+78994G>C	-	IntronicSNV	-	1/17	1
21-22450886-C-G	c.55+79950C>G	-	IntronicSNV	-	1/17	1
21-22450886-C-T	c.55+79950C>T	-	IntronicSNV	-	1/17	1
21-22452859-G-C	c.55+81923G>C	-	IntronicSNV	-	1/17	1
21-22453666-G-A	c.55+82730G>A	-	IntronicSNV	-	1/17	1
21-22454127-GA-G	c.55+83200del	-	IntronicDeletion	-	1/17	1
21-22458429-A-G	c.55+87493A>G	-	IntronicSNV	-	1/17	1
21-22458604-G-A	c.55+87668G>A	-	IntronicSNV	-	1/17	1
21-22459396-C-A	c.55+88460C>A	-	IntronicSNV	-	1/17	1
21-22459396-C-G	c.55+88460C>G	-	IntronicSNV	-	1/17	1
21-22459396-C-T	c.55+88460C>T	-	IntronicSNV	-	1/17	1
21-22461472-G-A	c.55+90536G>A	-	IntronicSNV	-	1/17	1
21-22461473-G-A	c.55+90537G>A	-	IntronicSNV	-	1/17	1
21-22461638-A-T	c.55+90702A>T	-	IntronicSNV	-	1/17	1
21-22464140-TATTAGAAA-T	c.55+93207_55+93214del	-	IntronicDeletion	-	1/17	1
21-22465129-A-G	c.55+94193A>G	-	IntronicSNV	-	1/17	1
21-22465511-G-A	c.55+94575G>A	-	IntronicSNV	-	1/17	1
21-22469062-G-GT	c.55+98131dup	-	IntronicInsertion	-	1/17	1
21-22471317-A-C	c.55+100381A>C	-	IntronicSNV	-	1/17	1
21-22472544-CA-C	c.55+101616del	-	IntronicDeletion	-	1/17	1
21-22474062-G-A	c.55+103126G>A	-	IntronicSNV	-	1/17	1
21-22474795-G-A	c.55+103859G>A	-	IntronicSNV	-	1/17	1
21-22480543-CT-C	c.55+109617del	-	IntronicDeletion	-	1/17	1
21-22484547-T-C	c.55+113611T>C	-	IntronicSNV	-	1/17	1
21-22484640-G-A	c.55+113704G>A	-	IntronicSNV	-	1/17	1
21-22486130-CT-C	c.55+115202del	-	IntronicDeletion	-	1/17	1
21-22486385-T-C	c.55+115449T>C	-	IntronicSNV	-	1/17	1
21-22487640-A-C	c.55+116704A>C	-	IntronicSNV	-	1/17	1
21-22487640-A-G	c.55+116704A>G	-	IntronicSNV	-	1/17	1
21-22487770-C-A	c.55+116834C>A	-	IntronicSNV	-	1/17	1
21-22489064-T-G	c.55+118128T>G	-	IntronicSNV	-	1/17	1
21-22492674-AC-A	c.55+121738del	-	IntronicDeletion	-	1/17	1
21-22492674-C-A	c.55+121738C>A	-	IntronicSNV	-	1/17	1
21-22494370-A-G	c.55+123434A>G	-	IntronicSNV	-	1/17	1
21-22494449-C-T	c.55+123513C>T	-	IntronicSNV	-	1/17	1
21-22499293-C-G	c.55+128357C>G	-	IntronicSNV	-	1/17	1
21-22500596-G-A	c.55+129660G>A	-	IntronicSNV	-	1/17	1
21-22500896-C-T	c.55+129960C>T	-	IntronicSNV	-	1/17	1
21-22502819-G-A	c.55+131883G>A	-	IntronicSNV	-	1/17	1
21-22502950-C-A	c.55+132014C>A	-	IntronicSNV	-	1/17	1
21-22503053-T-A	c.55+132117T>A	-	IntronicSNV	-	1/17	1
21-22503052-AT-A	c.55+132125del	-	IntronicDeletion	-	1/17	1
21-22506417-C-T	c.55+135481C>T	-	IntronicSNV	-	1/17	1
21-22507881-C-G	c.55+136945C>G	-	IntronicSNV	-	1/17	1
21-22533942-A-G	c.56-118956A>G	-	IntronicSNV	-	1/17	1
21-22533942-A-T	c.56-118956A>T	-	IntronicSNV	-	1/17	1
21-22549151-A-G	c.56-103747A>G	-	IntronicSNV	-	1/17	1
21-22559538-G-A	c.56-93360G>A	-	IntronicSNV	-	1/17	1
21-22559538-G-T	c.56-93360G>T	-	IntronicSNV	-	1/17	1
21-22560908-G-A	c.56-91990G>A	-	IntronicSNV	-	1/17	1
21-22562646-G-A	c.56-90252G>A	-	IntronicSNV	-	1/17	1
21-22577997-G-A	c.56-74901G>A	-	IntronicSNV	-	1/17	1
21-22577997-G-T	c.56-74901G>T	-	IntronicSNV	-	1/17	1
21-22582914-C-T	c.56-69984C>T	-	IntronicSNV	-	1/17	1
21-22600100-A-T	c.56-52798A>T	-	IntronicSNV	-	1/17	1
21-22616869-G-A	c.56-36029G>A	-	IntronicSNV	-	1/17	1
21-22620743-T-TA	c.56-32155_56-32154insA	-	IntronicInsertion	-	1/17	1
21-22626131-C-T	c.56-26767C>T	-	IntronicSNV	-	1/17	1
21-22629794-C-A	c.56-23104C>A	-	IntronicSNV	-	1/17	1
21-22629794-C-G	c.56-23104C>G	-	IntronicSNV	-	1/17	1
21-22637314-G-A	c.56-15584G>A	-	IntronicSNV	-	1/17	1
21-22637314-G-C	c.56-15584G>C	-	IntronicSNV	-	1/17	1
21-22643600-T-C	c.56-9298T>C	-	IntronicSNV	-	1/17	2
21-22643720-A-G	c.56-9178A>G	-	IntronicSNV	-	1/17	5
21-22646411-C-A	c.56-6487C>A	-	IntronicSNV	-	1/17	1
21-22646411-C-G	c.56-6487C>G	-	IntronicSNV	-	1/17	1
21-22648070-C-T	c.56-4828C>T	-	IntronicSNV	-	1/17	1
21-22652720-C-T	c.56-178C>T	-	IntronicSNV	-	1/17	4
21-22652802-A-G	c.56-96A>G	-	IntronicSNV	-	1/17	1
21-22652899-T-A	c.57T>A	p.A19=	Synonymous	2/18	-	2
21-22652899-T-C	c.57T>C	p.A19=	Synonymous	2/18	-	2
21-22652899-T-G	c.57T>G	p.A19=	Synonymous	2/18	-	2
21-22652900-C-T	c.58C>T	p.L20F	Missense	2/18	-	4
21-22652902-T-A	c.60T>A	p.L20=	Synonymous	2/18	-	1
21-22652902-T-C	c.60T>C	p.L20=	Synonymous	2/18	-	1
21-22652902-T-G	c.60T>G	p.L20=	Synonymous	2/18	-	1
21-22652903-C-A	c.61C>A	p.L21I	Missense	2/18	-	1
21-22652905-T-A	c.63T>A	p.L21=	Synonymous	2/18	-	1
21-22652905-T-C	c.63T>C	p.L21=	Synonymous	2/18	-	1
21-22652905-T-G	c.63T>G	p.L21=	Synonymous	2/18	-	1
21-22652906-C-A	c.64C>A	p.Q22K	Missense	2/18	-	3
21-22652908-A-G	c.66A>G	p.Q22=	Synonymous	2/18	-	1
21-22652911-G-A	c.69G>A	p.V23=	Synonymous	2/18	-	1
21-22652911-G-C	c.69G>C	p.V23=	Synonymous	2/18	-	1
21-22652911-G-T	c.69G>T	p.V23=	Synonymous	2/18	-	1
21-22652914-A-C	c.72A>C	p.T24=	Synonymous	2/18	-	1
21-22652914-A-G	c.72A>G	p.T24=	Synonymous	2/18	-	1
21-22652914-A-T	c.72A>T	p.T24=	Synonymous	2/18	-	1
21-22652919-C-A	c.77C>A	p.S26*	Nonsense	2/18	-	1
21-22652919-CA-TT	c.77_78delinsTT	p.S26F	Missense	2/18	-	1
21-22652919-C-G	c.77C>G	p.S26*	Nonsense	2/18	-	1
21-22652919-C-T	c.77C>T	p.S26L	Missense	2/18	-	6
21-22652925-G-C	c.83G>C	p.S28T	Missense	2/18	-	4
21-22652926-C-A	c.84C>A	p.S28R	Missense	2/18	-	1
21-22652926-C-T	c.84C>T	p.S28=	Synonymous	2/18	-	1
21-22652929-A-C	c.87A>C	p.K29N	Missense	2/18	-	1
21-22652929-A-G	c.87A>G	p.K29=	Synonymous	2/18	-	1
21-22652929-A-T	c.87A>T	p.K29N	Missense	2/18	-	2
21-22652930-G-A	c.88G>A	p.V30I	Missense	2/18	-	1
21-22652930-G-T	c.88G>T	p.V30L	Missense	2/18	-	1
21-22652935-G-A	c.93G>A	p.E31=	Synonymous	2/18	-	1
21-22652936-C-A	c.94C>A	p.L32I	Missense	2/18	-	1
21-22652939-AG-TA	c.97_98delinsTA	p.S33Y	Missense	2/18	-	1
21-22652940-G-T	c.98G>T	p.S33I	Missense	2/18	-	1
21-22652944-T-A	c.102T>A	p.V34=	Synonymous	2/18	-	2
21-22652944-T-C	c.102T>C	p.V34=	Synonymous	2/18	-	1
21-22652944-T-G	c.102T>G	p.V34=	Synonymous	2/18	-	1
21-22652945-G-A	c.103G>A	p.G35R	Missense	2/18	-	2
21-22652945-GG-AC	c.103_104delinsAC	p.G35T	Missense	2/18	-	1
21-22652946-G-C	c.104G>C	p.G35A	Missense	2/18	-	5
21-22652947-A-G	c.105A>G	p.G35=	Synonymous	2/18	-	1
21-22652952-C-A	c.110C>A	p.S37Y	Missense	2/18	-	1
21-22652954-A-G	c.112A>G	p.K38E	Missense	2/18	-	2
21-22652954-A-T	c.112A>T	p.K38*	Nonsense	2/18	-	2
21-22652957-T-C	c.115T>C	p.F39L	Missense	2/18	-	1
21-22652957-T-G	c.115T>G	p.F39V	Missense	2/18	-	1
21-22652959-C-G	c.117C>G	p.F39L	Missense	2/18	-	1
21-22652959-C-A	c.117C>A	p.F39L	Missense	2/18	-	2
21-22652960-T-C	c.118T>C	p.F40L	Missense	2/18	-	1
21-22652962-C-A	c.120C>A	p.F40L	Missense	2/18	-	1
21-22652962-C-G	c.120C>G	p.F40L	Missense	2/18	-	1
21-22652962-C-T	c.120C>T	p.F40=	Synonymous	2/18	-	2
21-22652964-AC-A	c.122del	p.T41Nfs*11	Frameshift	2/18	-	1
21-22652964-ACAT-A	c.122_124del	p.T41_C42delinsS	MultiAAMissense	2/18	-	1
21-22652966-TG-GC	c.124_125delinsGC	p.C42A	Missense	2/18	-	1
21-22652967-TG-T	c.125del	p.C42Lfs*10	Frameshift	2/18	-	1
21-22652971-A-C	c.129A>C	p.T43=	Synonymous	2/18	-	1
21-22652971-A-G	c.129A>G	p.T43=	Synonymous	2/18	-	1
21-22652971-A-T	c.129A>T	p.T43=	Synonymous	2/18	-	1
21-22652972-G-T	c.130G>T	p.A44S	Missense	2/18	-	1
21-22652974-T-G	c.130+2T>G	-	IntronicSNV	-	2/17	1
21-22652978-T-C	c.130+6T>C	-	IntronicSNV	-	2/17	2
21-22653099-G-A	c.130+127G>A	-	IntronicSNV	-	2/17	1
21-22653099-G-T	c.130+127G>T	-	IntronicSNV	-	2/17	1
21-22653132-C-T	c.130+160C>T	-	IntronicSNV	-	2/17	1
21-22656316-T-A	c.131-198T>A	-	IntronicSNV	-	2/17	1
21-22656316-T-C	c.131-198T>C	-	IntronicSNV	-	2/17	1
21-22656514-C-T	c.131C>T	p.A44V	Missense	3/18	-	1
21-22656515-G-A	c.132G>A	p.A44=	Synonymous	3/18	-	6
21-22656515-G-C	c.132G>C	p.A44=	Synonymous	3/18	-	4
21-22656515-G-T	c.132G>T	p.A44=	Synonymous	3/18	-	5
21-22656519-G-C	c.136G>C	p.G46R	Missense	3/18	-	1
21-22656520-G-A	c.137G>A	p.G46D	Missense	3/18	-	1
21-22656520-GT-AG	c.137_138delinsAG	p.G46E	Missense	3/18	-	2
21-22656521-T-A	c.138T>A	p.G46=	Synonymous	3/18	-	1
21-22656521-T-C	c.138T>C	p.G46=	Synonymous	3/18	-	1
21-22656521-T-G	c.138T>G	p.G46=	Synonymous	3/18	-	1
21-22656524-A-G	c.141A>G	p.E47=	Synonymous	3/18	-	1
21-22656525-C-A	c.142C>A	p.P48T	Missense	3/18	-	1
21-22656525-C-T	c.142C>T	p.P48S	Missense	3/18	-	3
21-22656528-G-T	c.145G>T	p.E49*	Nonsense	3/18	-	1
21-22656532-G-T	c.149G>T	p.S50I	Missense	3/18	-	2
21-22656536-A-G	c.153A>G	p.I51M	Missense	3/18	-	2
21-22656537-G-A	c.154G>A	p.D52N	Missense	3/18	-	1
21-22656537-G-T	c.154G>T	p.D52Y	Missense	3/18	-	3
21-22656542-G-C	c.159G>C	p.W53C	Missense	3/18	-	1
21-22656545-T-C	c.162T>C	p.Y54=	Synonymous	3/18	-	2
21-22656548-T-A	c.165T>A	p.N55K	Missense	3/18	-	1
21-22656548-T-G	c.165T>G	p.N55K	Missense	3/18	-	1
21-22656549-C-T	c.166C>T	p.P56S	Missense	3/18	-	3
21-22656550-C-T	c.167C>T	p.P56L	Missense	3/18	-	2
21-22656552-C-T	c.169C>T	p.Q57*	Nonsense	3/18	-	2
21-22656553-A-T	c.170A>T	p.Q57L	Missense	3/18	-	5
21-22656555-G-A	c.172G>A	p.G58R	Missense	3/18	-	3
21-22656555-G-C	c.172G>C	p.G58R	Missense	3/18	-	1
21-22656555-GGA-TGT	c.172_174delinsTGT	p.G58C	Missense	3/18	-	1
21-22656560-G-C	c.177G>C	p.E59D	Missense	3/18	-	1
21-22656560-G-T	c.177G>T	p.E59D	Missense	3/18	-	1
21-22656561-A-C	c.178A>C	p.K60Q	Missense	3/18	-	1
21-22656562-A-G	c.179A>G	p.K60R	Missense	3/18	-	1
21-22656565-T-A	c.182T>A	p.I61K	Missense	3/18	-	1
21-22656566-A-C	c.183A>C	p.I61=	Synonymous	3/18	-	1
21-22656566-A-G	c.183A>G	p.I61M	Missense	3/18	-	1
21-22656566-A-T	c.183A>T	p.I61=	Synonymous	3/18	-	1
21-22656567-A-C	c.184A>C	p.I62L	Missense	3/18	-	1
21-22656568-T-C	c.185T>C	p.I62T	Missense	3/18	-	2
21-22656576-C-T	c.193C>T	p.Q65*	Nonsense	3/18	-	3
21-22656577-A-T	c.194A>T	p.Q65L	Missense	3/18	-	1
21-22656578-G-C	c.195G>C	p.Q65H	Missense	3/18	-	1
21-22656578-G-T	c.195G>T	p.Q65H	Missense	3/18	-	1
21-22656579-A-T	c.196A>T	p.R66W	Missense	3/18	-	1
21-22656580-G-A	c.197G>A	p.R66K	Missense	3/18	-	3
21-22656582-G-C	c.199G>C	p.V67L	Missense	3/18	-	2
21-22656582-G-T	c.199G>T	p.V67L	Missense	3/18	-	2
21-22656585-GTA-TGG	c.202_204delinsTGG	p.V68W	Missense	3/18	-	1
21-22656588-G-A	c.205G>A	p.V69M	Missense	3/18	-	3
21-22656588-G-T	c.205G>T	p.V69L	Missense	3/18	-	1
21-22656591-C-G	c.208C>G	p.Q70E	Missense	3/18	-	2
21-22656592-A-T	c.209A>T	p.Q70L	Missense	3/18	-	1
21-22656596-G-A	c.213G>A	p.K71=	Synonymous	3/18	-	1
21-22656597-G-C	c.214G>C	p.E72Q	Missense	3/18	-	1
21-22656599-A-C	c.216A>C	p.E72D	Missense	3/18	-	1
21-22656599-A-G	c.216A>G	p.E72=	Synonymous	3/18	-	1
21-22656599-A-T	c.216A>T	p.E72D	Missense	3/18	-	2
21-22656600-G-A	c.217G>A	p.G73S	Missense	3/18	-	2
21-22656602-T-A	c.219T>A	p.G73=	Synonymous	3/18	-	1
21-22656602-T-C	c.219T>C	p.G73=	Synonymous	3/18	-	1
21-22656602-T-G	c.219T>G	p.G73=	Synonymous	3/18	-	1
21-22656603-G-A	c.220G>A	p.V74I	Missense	3/18	-	1
21-22656607-G-C	c.224G>C	p.R75T	Missense	3/18	-	1
21-22656609-T-A	c.226T>A	p.S76T	Missense	3/18	-	2
21-22656612-C-G	c.229C>G	p.R77G	Missense	3/18	-	4
21-22656612-C-T	c.229C>T	p.R77W	Missense	3/18	-	6
21-22656613-G-A	c.230G>A	p.R77Q	Missense	3/18	-	1
21-22656614-G-T	c.231G>T	p.R77=	Synonymous	3/18	-	1
21-22656616-T-A	c.233T>A	p.L78*	Nonsense	3/18	-	1
21-22656616-T-G	c.233T>G	p.L78*	Nonsense	3/18	-	1
21-22656620-C-A	c.237C>A	p.T79=	Synonymous	3/18	-	2
21-22656620-C-G	c.237C>G	p.T79=	Synonymous	3/18	-	2
21-22656620-C-T	c.237C>T	p.T79=	Synonymous	3/18	-	3
21-22656625-A-G	c.242A>G	p.Y81C	Missense	3/18	-	2
21-22656628-A-G	c.245A>G	p.N82S	Missense	3/18	-	2
21-22656628-A-T	c.245A>T	p.N82I	Missense	3/18	-	1
21-22656629-T-C	c.246T>C	p.N82=	Synonymous	3/18	-	1
21-22656630-GCA-ATG	c.247_249delinsATG	p.A83M	Missense	3/18	-	1
21-22656630-GCA-TGT	c.247_249delinsTGT	p.A83C	Missense	3/18	-	1
21-22656632-A-C	c.249A>C	p.A83=	Synonymous	3/18	-	1
21-22656632-A-G	c.249A>G	p.A83=	Synonymous	3/18	-	1
21-22656632-A-T	c.249A>T	p.A83=	Synonymous	3/18	-	1
21-22656636-A-G	c.253A>G	p.I85V	Missense	3/18	-	3
21-22656638-A-C	c.255A>C	p.I85=	Synonymous	3/18	-	1
21-22656638-A-G	c.255A>G	p.I85M	Missense	3/18	-	4
21-22656642-G-C	c.259G>C	p.D87H	Missense	3/18	-	1
21-22656646-C-A	c.263C>A	p.A88E	Missense	3/18	-	1
21-22656648-G-A	c.265G>A	p.G89R	Missense	3/18	-	2
21-22656648-G-C	c.265G>C	p.G89R	Missense	3/18	-	1
21-22656650-G-T	c.267G>T	p.G89=	Synonymous	3/18	-	1
21-22656652-T-A	c.269T>A	p.I90K	Missense	3/18	-	1
21-22656652-T-C	c.269T>C	p.I90T	Missense	3/18	-	1
21-22656655-A-T	c.272A>T	p.Y91F	Missense	3/18	-	1
21-22656657-C-A	c.274C>A	p.R92S	Missense	3/18	-	1
21-22656657-C-G	c.274C>G	p.R92G	Missense	3/18	-	1
21-22656657-C-T	c.274C>T	p.R92C	Missense	3/18	-	4
21-22656658-G-A	c.275G>A	p.R92H	Missense	3/18	-	9
21-22656661-G-A	c.278G>A	p.C93Y	Missense	3/18	-	3
21-22656668-A-C	c.285A>C	p.A95=	Synonymous	3/18	-	1
21-22656668-A-G	c.285A>G	p.A95=	Synonymous	3/18	-	1
21-22656668-A-T	c.285A>T	p.A95=	Synonymous	3/18	-	1
21-22656668-AAC-A	c.287_288del	p.T96Rfs*43	Frameshift	3/18	-	1
21-22656670-C-T	c.287C>T	p.T96I	Missense	3/18	-	1
21-22656671-A-C	c.288A>C	p.T96=	Synonymous	3/18	-	1
21-22656671-A-G	c.288A>G	p.T96=	Synonymous	3/18	-	1
21-22656671-A-T	c.288A>T	p.T96=	Synonymous	3/18	-	1
21-22656672-G-T	c.289G>T	p.D97Y	Missense	3/18	-	1
21-22656676-C-T	c.293C>T	p.A98V	Missense	3/18	-	1
21-22656677-C-A	c.294C>A	p.A98=	Synonymous	3/18	-	1
21-22656681-G-A	c.298G>A	p.G100R	Missense	3/18	-	1
21-22656681-G-C	c.298G>C	p.G100R	Missense	3/18	-	1
21-22656682-G-C	c.299G>C	p.G100A	Missense	3/18	-	2
21-22656690-C-G	c.307C>G	p.Q103E	Missense	3/18	-	3
21-22656692-A-C	c.309A>C	p.Q103H	Missense	3/18	-	3
21-22656692-A-T	c.309A>T	p.Q103H	Missense	3/18	-	2
21-22656693-G-A	c.310G>A	p.E104K	Missense	3/18	-	1
21-22656694-A-G	c.311A>G	p.E104G	Missense	3/18	-	3
21-22656697-C-G	c.314C>G	p.A105G	Missense	3/18	-	1
21-22656698-T-A	c.315T>A	p.A105=	Synonymous	3/18	-	1
21-22656698-T-C	c.315T>C	p.A105=	Synonymous	3/18	-	1
21-22656698-T-G	c.315T>G	p.A105=	Synonymous	3/18	-	1
21-22656701-A-G	c.318A>G	p.T106=	Synonymous	3/18	-	1
21-22656703-T-C	c.320T>C	p.V107A	Missense	3/18	-	1
21-22656706-T-C	c.323T>C	p.V108A	Missense	3/18	-	1
21-22656710-G-C	c.327G>C	p.L109F	Missense	3/18	-	1
21-22656710-G-T	c.327G>T	p.L109F	Missense	3/18	-	1
21-22656711-G-A	c.328G>A	p.E110K	Missense	3/18	-	3
21-22656714-A-G	c.331A>G	p.I111V	Missense	3/18	-	1
21-22656718-A-C	c.335A>C	p.Y112S	Missense	3/18	-	3
21-22656720-C-T	c.337C>T	p.Q113*	Nonsense	3/18	-	1
21-22656721-G-A	c.337+1G>A	-	IntronicSNV	-	3/17	3
21-22656721-G-T	c.337+1G>T	-	IntronicSNV	-	3/17	1
21-22656824-G-C	c.337+104G>C	-	IntronicSNV	-	3/17	1
21-22657030-AT-A	c.337+320del	-	IntronicDeletion	-	3/17	1
21-22658430-G-A	c.338-159G>A	-	IntronicSNV	-	3/17	1
21-22658430-G-C	c.338-159G>C	-	IntronicSNV	-	3/17	1
21-22658594-C-T	c.343C>T	p.L115F	Missense	4/18	-	1
21-22658599-T-A	c.348T>A	p.T116=	Synonymous	4/18	-	1
21-22658599-T-C	c.348T>C	p.T116=	Synonymous	4/18	-	1
21-22658599-T-G	c.348T>G	p.T116=	Synonymous	4/18	-	1
21-22658601-T-C	c.350T>C	p.F117S	Missense	4/18	-	3
21-22658605-A-T	c.354A>T	p.R118S	Missense	4/18	-	1
21-22658606-G-A	c.355G>A	p.E119K	Missense	4/18	-	3
21-22658606-G-T	c.355G>T	p.E119*	Nonsense	4/18	-	1
21-22658611-G-A	c.360G>A	p.V120=	Synonymous	4/18	-	1
21-22658617-T-A	c.366T>A	p.S122=	Synonymous	4/18	-	2
21-22658617-T-C	c.366T>C	p.S122=	Synonymous	4/18	-	2
21-22658617-T-G	c.366T>G	p.S122=	Synonymous	4/18	-	2
21-22658618-C-T	c.367C>T	p.P123S	Missense	4/18	-	1
21-22658624-G-T	c.373G>T	p.E125*	Nonsense	4/18	-	3
21-22658626-A-G	c.375A>G	p.E125=	Synonymous	4/18	-	1
21-22658627-T-A	c.376T>A	p.F126I	Missense	4/18	-	1
21-22658628-T-A	c.377T>A	p.F126Y	Missense	4/18	-	1
21-22658632-A-G	c.381A>G	p.K127=	Synonymous	4/18	-	1
21-22658633-C-A	c.382C>A	p.Q128K	Missense	4/18	-	1
21-22658633-C-T	c.382C>T	p.Q128*	Nonsense	4/18	-	1
21-22658635-A-C	c.384A>C	p.Q128H	Missense	4/18	-	1
21-22658635-A-T	c.384A>T	p.Q128H	Missense	4/18	-	1
21-22658636-G-A	c.385G>A	p.G129R	Missense	4/18	-	1
21-22658636-GG-AT	c.385_386delinsAT	p.G129I	Missense	4/18	-	1
21-22658637-G-A	c.386G>A	p.G129E	Missense	4/18	-	1
21-22658637-GA-AC	c.386_387delinsAC	p.G129D	Missense	4/18	-	1
21-22658637-G-T	c.386G>T	p.G129V	Missense	4/18	-	1
21-22658641-A-T	c.390A>T	p.E130D	Missense	4/18	-	1
21-22658642-G-A	c.391G>A	p.D131N	Missense	4/18	-	1
21-22658642-G-C	c.391G>C	p.D131H	Missense	4/18	-	3
21-22658645-G-T	c.394G>T	p.A132S	Missense	4/18	-	1
21-22658646-C-A	c.395C>A	p.A132E	Missense	4/18	-	1
21-22658646-C-G	c.395C>G	p.A132G	Missense	4/18	-	1
21-22658648-G-C	c.397G>C	p.E133Q	Missense	4/18	-	1
21-22658654-G-A	c.403G>A	p.V135I	Missense	4/18	-	2
21-22658654-G-GT	c.406dup	p.C136Lfs*4	Frameshift	4/18	-	1
21-22658657-T-TA	c.406_407insA	p.C136*	Nonsense	4/18	-	1
21-22658658-G-C	c.407G>C	p.C136S	Missense	4/18	-	2
21-22658659-C-A	c.408C>A	p.C136*	Nonsense	4/18	-	1
21-22658659-C-T	c.408C>T	p.C136=	Synonymous	4/18	-	1
21-22658660-C-A	c.409C>A	p.R137=	Synonymous	4/18	-	1
21-22658660-C-T	c.409C>T	p.R137*	Nonsense	4/18	-	1
21-22658662-A-C	c.411A>C	p.R137=	Synonymous	4/18	-	1
21-22658662-A-G	c.411A>G	p.R137=	Synonymous	4/18	-	1
21-22658662-A-T	c.411A>T	p.R137=	Synonymous	4/18	-	2
21-22658663-G-T	c.412G>T	p.V138F	Missense	4/18	-	1
21-22658666-A-C	c.415A>C	p.S139R	Missense	4/18	-	2
21-22658668-C-A	c.417C>A	p.S139R	Missense	4/18	-	4
21-22658668-C-G	c.417C>G	p.S139R	Missense	4/18	-	2
21-22658669-A-G	c.418A>G	p.S140G	Missense	4/18	-	2
21-22658674-A-G	c.423A>G	p.S141=	Synonymous	4/18	-	1
21-22658675-C-T	c.424C>T	p.P142S	Missense	4/18	-	2
21-22658677-T-A	c.426T>A	p.P142=	Synonymous	4/18	-	1
21-22658677-T-C	c.426T>C	p.P142=	Synonymous	4/18	-	1
21-22658677-T-G	c.426T>G	p.P142=	Synonymous	4/18	-	1
21-22658678-G-A	c.427G>A	p.A143T	Missense	4/18	-	1
21-22658687-G-A	c.436G>A	p.V146I	Missense	4/18	-	2
21-22658687-TG-T	c.436del	p.V146Sfs*21	Frameshift	4/18	-	1
21-22658693-T-C	c.442T>C	p.W148R	Missense	4/18	-	1
21-22658694-G-T	c.443G>T	p.W148L	Missense	4/18	-	1
21-22658698-G-T	c.447G>T	p.L149F	Missense	4/18	-	1
21-22658702-C-T	c.451C>T	p.H151Y	Missense	4/18	-	4
21-22658708-G-A	c.457G>A	p.E153K	Missense	4/18	-	2
21-22658710-G-C	c.459G>C	p.E153D	Missense	4/18	-	2
21-22658710-G-T	c.459G>T	p.E153D	Missense	4/18	-	2
21-22658711-G-A	c.460G>A	p.E154K	Missense	4/18	-	3
21-22658713-A-C	c.462A>C	p.E154D	Missense	4/18	-	1
21-22658713-A-T	c.462A>T	p.E154D	Missense	4/18	-	1
21-22658716-C-A	c.465C>A	p.V155=	Synonymous	4/18	-	1
21-22658716-C-G	c.465C>G	p.V155=	Synonymous	4/18	-	1
21-22658716-C-T	c.465C>T	p.V155=	Synonymous	4/18	-	1
21-22658717-AC-A	c.468del	p.T157Lfs*10	Frameshift	4/18	-	1
21-22658720-A-G	c.469A>G	p.T157A	Missense	4/18	-	1
21-22658722-T-G	c.471T>G	p.T157=	Synonymous	4/18	-	1
21-22658727-C-A	c.476C>A	p.S159Y	Missense	4/18	-	2
21-22658728-C-T	c.477C>T	p.S159=	Synonymous	4/18	-	1
21-22658729-G-T	c.478G>T	p.D160Y	Missense	4/18	-	1
21-22658742-T-C	c.481+10T>C	-	IntronicSNV	-	4/17	1
21-22658894-A-G	c.481+162A>G	-	IntronicSNV	-	4/17	1
21-22659061-TA-T	c.481+337del	-	IntronicDeletion	-	4/17	1
21-22659901-T-C	c.481+1169T>C	-	IntronicSNV	-	4/17	1
21-22660678-G-A	c.481+1946G>A	-	IntronicSNV	-	4/17	1
21-22663886-C-T	c.482-538C>T	-	IntronicSNV	-	4/17	1
21-22664210-T-A	c.482-214T>A	-	IntronicSNV	-	4/17	2
21-22664210-T-C	c.482-214T>C	-	IntronicSNV	-	4/17	2
21-22664211-C-A	c.482-213C>A	-	IntronicSNV	-	4/17	1
21-22664211-C-T	c.482-213C>T	-	IntronicSNV	-	4/17	1
21-22664426-C-A	c.484C>A	p.R162=	Synonymous	5/18	-	2
21-22664426-C-T	c.484C>T	p.R162W	Missense	5/18	-	3
21-22664428-G-C	c.486G>C	p.R162=	Synonymous	5/18	-	1
21-22664428-G-T	c.486G>T	p.R162=	Synonymous	5/18	-	1
21-22664427-G-C	c.485G>C	p.R162P	Missense	5/18	-	4
21-22664427-G-T	c.485G>T	p.R162L	Missense	5/18	-	3
21-22664428-G-A	c.486G>A	p.R162=	Synonymous	5/18	-	3
21-22664429-T-C	c.487T>C	p.F163L	Missense	5/18	-	2
21-22664431-C-A	c.489C>A	p.F163L	Missense	5/18	-	2
21-22664431-C-G	c.489C>G	p.F163L	Missense	5/18	-	3
21-22664430-T-A	c.488T>A	p.F163Y	Missense	5/18	-	1
21-22664431-C-T	c.489C>T	p.F163=	Synonymous	5/18	-	5
21-22664432-G-A	c.490G>A	p.A164T	Missense	5/18	-	2
21-22664432-G-T	c.490G>T	p.A164S	Missense	5/18	-	1
21-22664433-C-T	c.491C>T	p.A164V	Missense	5/18	-	1
21-22664438-TT-CC	c.496_497delinsCC	p.L166P	Missense	5/18	-	1
21-22664441-G-T	c.499G>T	p.A167S	Missense	5/18	-	1
21-22664442-C-A	c.500C>A	p.A167E	Missense	5/18	-	1
21-22664443-A-C	c.501A>C	p.A167=	Synonymous	5/18	-	3
21-22664443-A-G	c.501A>G	p.A167=	Synonymous	5/18	-	3
21-22664443-A-T	c.501A>T	p.A167=	Synonymous	5/18	-	4
21-22664446-C-T	c.504C>T	p.N168=	Synonymous	5/18	-	2
21-22664449-T-A	c.507T>A	p.N169K	Missense	5/18	-	1
21-22664449-T-C	c.507T>C	p.N169=	Synonymous	5/18	-	1
21-22664449-T-G	c.507T>G	p.N169K	Missense	5/18	-	1
21-22664454-T-A	c.512T>A	p.L171Q	Missense	5/18	-	1
21-22664456-C-A	c.514C>A	p.Q172K	Missense	5/18	-	1
21-22664458-G-C	c.516G>C	p.Q172H	Missense	5/18	-	3
21-22664458-G-T	c.516G>T	p.Q172H	Missense	5/18	-	3
21-22664462-C-A	c.520C>A	p.L174I	Missense	5/18	-	1
21-22664465-A-T	c.523A>T	p.N175Y	Missense	5/18	-	1
21-22664466-A-G	c.524A>G	p.N175S	Missense	5/18	-	1
21-22664467-C-A	c.525C>A	p.N175K	Missense	5/18	-	1
21-22664467-C-T	c.525C>T	p.N175=	Synonymous	5/18	-	1
21-22664475-A-C	c.533A>C	p.K178T	Missense	5/18	-	4
21-22664478-G-C	c.536G>C	p.S179T	Missense	5/18	-	1
21-22664480-G-T	c.538G>T	p.D180Y	Missense	5/18	-	1
21-22664486-G-A	c.544G>A	p.G182S	Missense	5/18	-	1
21-22664486-G-T	c.544G>T	p.G182C	Missense	5/18	-	1
21-22664488-T-A	c.546T>A	p.G182=	Synonymous	5/18	-	1
21-22664488-T-C	c.546T>C	p.G182=	Synonymous	5/18	-	1
21-22664488-T-G	c.546T>G	p.G182=	Synonymous	5/18	-	1
21-22664490-T-G	c.548T>G	p.I183R	Missense	5/18	-	1
21-22664492-T-C	c.550T>C	p.Y184H	Missense	5/18	-	1
21-22664492-T-G	c.550T>G	p.Y184D	Missense	5/18	-	1
21-22664493-A-T	c.551A>T	p.Y184F	Missense	5/18	-	1
21-22664494-C-G	c.552C>G	p.Y184*	Nonsense	5/18	-	1
21-22664495-A-T	c.553A>T	p.R185*	Nonsense	5/18	-	2
21-22664496-G-A	c.554G>A	p.R185K	Missense	5/18	-	1
21-22664498-T-A	c.556T>A	p.C186S	Missense	5/18	-	1
21-22664500-T-C	c.558T>C	p.C186=	Synonymous	5/18	-	3
21-22664501-G-A	c.559G>A	p.E187K	Missense	5/18	-	1
21-22664504-G-T	c.562G>T	p.G188*	Nonsense	5/18	-	1
21-22664508-G-T	c.566G>T	p.R189I	Missense	5/18	-	1
21-22664515-G-A	c.573G>A	p.E191=	Synonymous	5/18	-	1
21-22664516-G-A	c.574G>A	p.A192T	Missense	5/18	-	1
21-22664516-G-C	c.574G>C	p.A192P	Missense	5/18	-	1
21-22664516-G-GC	c.576dup	p.R193Qfs*5	Frameshift	5/18	-	1
21-22664518-C-T	c.576C>T	p.A192=	Synonymous	5/18	-	2
21-22664519-A-G	c.577A>G	p.R193G	Missense	5/18	-	1
21-22664519-AG-CA	c.577_578delinsCA	p.R193Q	Missense	5/18	-	2
21-22664520-G-A	c.578G>A	p.R193K	Missense	5/18	-	3
21-22664521-G-C	c.579G>C	p.R193S	Missense	5/18	-	1
21-22664521-G-T	c.579G>T	p.R193S	Missense	5/18	-	1
21-22664525-G-T	c.583G>T	p.E195*	Nonsense	5/18	-	2
21-22664526-A-G	c.584A>G	p.E195G	Missense	5/18	-	1
21-22664527-A-C	c.585A>C	p.E195D	Missense	5/18	-	1
21-22664527-A-G	c.585A>G	p.E195=	Synonymous	5/18	-	1
21-22664531-G-C	c.589G>C	p.D197H	Missense	5/18	-	1
21-22664531-G-T	c.589G>T	p.D197Y	Missense	5/18	-	1
21-22664536-C-T	c.594C>T	p.F198=	Synonymous	5/18	-	1
21-22664537-CGT-TGG	c.595_597delinsTGG	p.R199W	Missense	5/18	-	1
21-22664537-C-T	c.595C>T	p.R199C	Missense	5/18	-	3
21-22664538-G-A	c.596G>A	p.R199H	Missense	5/18	-	5
21-22664540-G-A	c.598G>A	p.D200N	Missense	5/18	-	1
21-22664541-A-T	c.599A>T	p.D200V	Missense	5/18	-	4
21-22664549-G-T	c.607G>T	p.V203F	Missense	5/18	-	1
21-22664550-T-A	c.608T>A	p.V203D	Missense	5/18	-	1
21-22664553-T-C	c.611T>C	p.I204T	Missense	5/18	-	1
21-22664556-T-G	c.614T>G	p.V205G	Missense	5/18	-	1
21-22664557-T-A	c.615T>A	p.V205=	Synonymous	5/18	-	1
21-22664557-T-C	c.615T>C	p.V205=	Synonymous	5/18	-	1
21-22664557-T-G	c.615T>G	p.V205=	Synonymous	5/18	-	1
21-22664558-A-G	c.616A>G	p.N206D	Missense	5/18	-	1
21-22664559-A-C	c.617A>C	p.N206T	Missense	5/18	-	1
21-22664561-G-A	c.619G>A	p.V207M	Missense	5/18	-	2
21-22664561-G-C	c.619G>C	p.V207L	Missense	5/18	-	1
21-22664561-G-T	c.619G>T	p.V207L	Missense	5/18	-	1
21-22664560-TG-T	c.619+1del	-	Frameshift	-	5/17	1
21-22664586-G-C	c.619+25G>C	-	IntronicSNV	-	5/17	1
21-22664609-T-C	c.619+48T>C	-	IntronicSNV	-	5/17	1
21-22664619-T-A	c.619+58T>A	-	IntronicSNV	-	5/17	3
21-22664753-T-G	c.619+192T>G	-	IntronicSNV	-	5/17	1
21-22664758-C-T	c.619+197C>T	-	IntronicSNV	-	5/17	1
21-22664855-A-G	c.619+294A>G	-	IntronicSNV	-	5/17	1
21-22667134-T-G	c.619+2573T>G	-	IntronicSNV	-	5/17	1
21-22668805-A-G	c.619+4244A>G	-	IntronicSNV	-	5/17	1
21-22668939-C-A	c.619+4378C>A	-	IntronicSNV	-	5/17	1
21-22669348-TA-T	c.619+4795del	-	IntronicDeletion	-	5/17	1
21-22670370-G-A	c.619+5809G>A	-	IntronicSNV	-	5/17	1
21-22670383-A-G	c.619+5822A>G	-	IntronicSNV	-	5/17	1
21-22671543-G-A	c.619+6982G>A	-	IntronicSNV	-	5/17	1
21-22672797-G-A	c.619+8236G>A	-	IntronicSNV	-	5/17	1
21-22673466-G-C	c.619+8905G>C	-	IntronicSNV	-	5/17	1
21-22681985-A-C	c.620-14718A>C	-	IntronicSNV	-	5/17	1
21-22686896-G-C	c.620-9807G>C	-	IntronicSNV	-	5/17	1
21-22686896-G-T	c.620-9807G>T	-	IntronicSNV	-	5/17	1
21-22687387-C-T	c.620-9316C>T	-	IntronicSNV	-	5/17	1
21-22687764-C-G	c.620-8939C>G	-	IntronicSNV	-	5/17	1
21-22687764-C-T	c.620-8939C>T	-	IntronicSNV	-	5/17	1
21-22689103-A-T	c.620-7600A>T	-	IntronicSNV	-	5/17	1
21-22689344-G-A	c.620-7359G>A	-	IntronicSNV	-	5/17	2
21-22691244-G-A	c.620-5459G>A	-	IntronicSNV	-	5/17	1
21-22692518-C-T	c.620-4185C>T	-	IntronicSNV	-	5/17	1
21-22692581-A-G	c.620-4122A>G	-	IntronicSNV	-	5/17	1
21-22692598-G-A	c.620-4105G>A	-	IntronicSNV	-	5/17	1
21-22692598-G-T	c.620-4105G>T	-	IntronicSNV	-	5/17	1
21-22692667-G-A	c.620-4036G>A	-	IntronicSNV	-	5/17	1
21-22696146-T-G	c.620-557T>G	-	IntronicSNV	-	5/17	1
21-22696657-G-C	c.620-46G>C	-	IntronicSNV	-	5/17	4
21-22696703-GT-G	c.620del	p.V207Gfs*22	Frameshift	6/18	-	1
21-22696704-G-A	c.621G>A	p.V207=	Synonymous	6/18	-	1
21-22696705-C-T	c.622C>T	p.P208S	Missense	6/18	-	1
21-22696706-C-T	c.623C>T	p.P208L	Missense	6/18	-	1
21-22696710-A-C	c.627A>C	p.P209=	Synonymous	6/18	-	1
21-22696710-A-G	c.627A>G	p.P209=	Synonymous	6/18	-	1
21-22696710-A-T	c.627A>T	p.P209=	Synonymous	6/18	-	1
21-22696711-G-A	c.628G>A	p.A210T	Missense	6/18	-	8
21-22696712-C-A	c.629C>A	p.A210E	Missense	6/18	-	3
21-22696714-A-G	c.631A>G	p.I211V	Missense	6/18	-	1
21-22696716-C-A	c.633C>A	p.I211=	Synonymous	6/18	-	2
21-22696716-C-T	c.633C>T	p.I211=	Synonymous	6/18	-	4
21-22696718-C-T	c.635C>T	p.S212L	Missense	6/18	-	1
21-22696720-A-C	c.637A>C	p.M213L	Missense	6/18	-	1
21-22696720-A-T	c.637A>T	p.M213L	Missense	6/18	-	1
21-22696721-T-C	c.638T>C	p.M213T	Missense	6/18	-	1
21-22696724-C-A	c.641C>A	p.P214H	Missense	6/18	-	3
21-22696726-C-T	c.643C>T	p.Q215*	Nonsense	6/18	-	2
21-22696728-G-A	c.645G>A	p.Q215=	Synonymous	6/18	-	2
21-22696728-G-C	c.645G>C	p.Q215H	Missense	6/18	-	1
21-22696728-G-T	c.645G>T	p.Q215H	Missense	6/18	-	1
21-22696730-A-C	c.647A>C	p.K216T	Missense	6/18	-	1
21-22696730-A-T	c.647A>T	p.K216I	Missense	6/18	-	1
21-22696732-T-A	c.649T>A	p.S217T	Missense	6/18	-	1
21-22696733-C-A	c.650C>A	p.S217Y	Missense	6/18	-	1
21-22696733-C-G	c.650C>G	p.S217C	Missense	6/18	-	1
21-22696734-T-G	c.651T>G	p.S217=	Synonymous	6/18	-	1
21-22696742-C-T	c.659C>T	p.A220V	Missense	6/18	-	5
21-22696743-C-A	c.660C>A	p.A220=	Synonymous	6/18	-	4
21-22696743-C-G	c.660C>G	p.A220=	Synonymous	6/18	-	2
21-22696743-C-T	c.660C>T	p.A220=	Synonymous	6/18	-	2
21-22696747-G-A	c.664G>A	p.A222T	Missense	6/18	-	1
21-22696750-G-A	c.667G>A	p.E223K	Missense	6/18	-	1
21-22696752-G-A	c.669G>A	p.E223=	Synonymous	6/18	-	3
21-22696753-AG-CT	c.670_671inv	p.R224L	Missense	6/18	-	1
21-22696754-G-A	c.671G>A	p.R224K	Missense	6/18	-	1
21-22696754-G-T	c.671G>T	p.R224I	Missense	6/18	-	1
21-22696748-CAG-C	c.672_673del	p.G225Rfs*27	Frameshift	6/18	-	1
21-22696762-G-A	c.679G>A	p.E227K	Missense	6/18	-	1
21-22696762-G-T	c.679G>T	p.E227*	Nonsense	6/18	-	4
21-22696765-A-C	c.682A>C	p.M228L	Missense	6/18	-	1
21-22696768-A-C	c.685A>C	p.T229P	Missense	6/18	-	1
21-22696769-C-G	c.686C>G	p.T229R	Missense	6/18	-	2
21-22696769-C-T	c.686C>T	p.T229I	Missense	6/18	-	1
21-22696773-T-C	c.690T>C	p.F230=	Synonymous	6/18	-	1
21-22696775-C-G	c.692C>G	p.S231C	Missense	6/18	-	1
21-22696776-C-A	c.693C>A	p.S231=	Synonymous	6/18	-	2
21-22696776-C-G	c.693C>G	p.S231=	Synonymous	6/18	-	2
21-22696776-C-T	c.693C>T	p.S231=	Synonymous	6/18	-	2
21-22696779-C-T	c.696C>T	p.C232=	Synonymous	6/18	-	2
21-22696781-G-A	c.698G>A	p.R233K	Missense	6/18	-	1
21-22696781-G-T	c.698G>T	p.R233M	Missense	6/18	-	3
21-22696782-G-C	c.699G>C	p.R233S	Missense	6/18	-	1
21-22696782-G-T	c.699G>T	p.R233S	Missense	6/18	-	1
21-22696784-C-T	c.701C>T	p.A234V	Missense	6/18	-	4
21-22696785-C-A	c.702C>A	p.A234=	Synonymous	6/18	-	3
21-22696785-C-G	c.702C>G	p.A234=	Synonymous	6/18	-	2
21-22696785-C-T	c.702C>T	p.A234=	Synonymous	6/18	-	2
21-22696786-T-C	c.703T>C	p.S235P	Missense	6/18	-	3
21-22696787-C-T	c.704C>T	p.S235L	Missense	6/18	-	1
21-22696787-TC-T	c.704del	p.S235*	Frameshift	6/18	-	1
21-22696791-C-T	c.708C>T	p.G236=	Synonymous	6/18	-	1
21-22696792-TC-CT	c.709_710delinsCT	p.S237L	Missense	6/18	-	2
21-22696794-T-C	c.711T>C	p.S237=	Synonymous	6/18	-	1
21-22696798-G-T	c.715G>T	p.E239*	Nonsense	6/18	-	2
21-22696799-A-T	c.716A>T	p.E239V	Missense	6/18	-	1
21-22696800-A-C	c.717A>C	p.E239D	Missense	6/18	-	1
21-22696800-A-T	c.717A>T	p.E239D	Missense	6/18	-	2
21-22696802-C-A	c.719C>A	p.P240H	Missense	6/18	-	1
21-22696803-C-G	c.720C>G	p.P240=	Synonymous	6/18	-	1
21-22696803-C-T	c.720C>T	p.P240=	Synonymous	6/18	-	3
21-22696801-CCCG-C	c.721_723del	p.A241del	InFrameDeletion	6/18	-	1
21-22696804-G-A	c.721G>A	p.A241T	Missense	6/18	-	1
21-22696804-G-T	c.721G>T	p.A241S	Missense	6/18	-	2
21-22696811-C-A	c.728C>A	p.S243Y	Missense	6/18	-	1
21-22696811-C-T	c.728C>T	p.S243F	Missense	6/18	-	2
21-22696812-C-A	c.729C>A	p.S243=	Synonymous	6/18	-	1
21-22696812-C-G	c.729C>G	p.S243=	Synonymous	6/18	-	1
21-22696812-C-T	c.729C>T	p.S243=	Synonymous	6/18	-	2
21-22696813-T-C	c.730T>C	p.W244R	Missense	6/18	-	1
21-22696837-C-A	c.737+17C>A	-	IntronicSNV	-	6/17	6
21-22696837-C-G	c.737+17C>G	-	IntronicSNV	-	6/17	8
21-22696837-C-T	c.737+17C>T	-	IntronicSNV	-	6/17	6
21-22696881-TG-T	c.737+65del	-	IntronicDeletion	-	6/17	3
21-22697518-C-G	c.737+698C>G	-	IntronicSNV	-	6/17	1
21-22698420-T-A	c.737+1600T>A	-	IntronicSNV	-	6/17	1
21-22698439-G-A	c.737+1619G>A	-	IntronicSNV	-	6/17	1
21-22698734-T-C	c.737+1914T>C	-	IntronicSNV	-	6/17	1
21-22698769-T-A	c.737+1949T>A	-	IntronicSNV	-	6/17	1
21-22703862-A-C	c.738-3963A>C	-	IntronicSNV	-	6/17	1
21-22707616-T-A	c.738-209T>A	-	IntronicSNV	-	6/17	1
21-22707616-T-C	c.738-209T>C	-	IntronicSNV	-	6/17	1
21-22707751-A-G	c.738-74A>G	-	IntronicSNV	-	6/17	1
21-22707771-C-A	c.738-54C>A	-	IntronicSNV	-	6/17	1
21-22707825-G-T	c.738G>T	p.R246S	Missense	7/18	-	1
21-22707829-G-T	c.742G>T	p.G248C	Missense	7/18	-	1
21-22707830-G-A	c.743G>A	p.G248D	Missense	7/18	-	1
21-22707831-C-G	c.744C>G	p.G248=	Synonymous	7/18	-	1
21-22707835-C-T	c.748C>T	p.L250F	Missense	7/18	-	1
21-22707837-C-T	c.750C>T	p.L250=	Synonymous	7/18	-	2
21-22707838-A-G	c.751A>G	p.I251V	Missense	7/18	-	3
21-22707841-G-A	c.754G>A	p.E252K	Missense	7/18	-	1
21-22707841-G-T	c.754G>T	p.E252*	Nonsense	7/18	-	1
21-22707844-G-T	c.757G>T	p.E253*	Nonsense	7/18	-	1
21-22707849-T-C	c.762T>C	p.N254=	Synonymous	7/18	-	1
21-22707852-G-T	c.765G>T	p.E255D	Missense	7/18	-	1
21-22707860-T-C	c.773T>C	p.I258T	Missense	7/18	-	1
21-22707864-G-A	c.777G>A	p.L259=	Synonymous	7/18	-	1
21-22707864-G-C	c.777G>C	p.L259F	Missense	7/18	-	2
21-22707864-G-T	c.777G>T	p.L259F	Missense	7/18	-	2
21-22707865-A-T	c.778A>T	p.K260*	Nonsense	7/18	-	1
21-22707866-AA-TG	c.779_780delinsTG	p.K260M	Missense	7/18	-	1
21-22707867-A-G	c.780A>G	p.K260=	Synonymous	7/18	-	1
21-22707868-G-A	c.781G>A	p.G261R	Missense	7/18	-	4
21-22707868-GGG-TGT	c.781_783delinsTGT	p.G261C	Missense	7/18	-	1
21-22707868-G-T	c.781G>T	p.G261W	Missense	7/18	-	1
21-22707873-C-T	c.786C>T	p.S262=	Synonymous	7/18	-	3
21-22707877-A-G	c.790A>G	p.T264A	Missense	7/18	-	1
21-22707878-C-A	c.791C>A	p.T264K	Missense	7/18	-	1
21-22707878-C-G	c.791C>G	p.T264R	Missense	7/18	-	1
21-22707887-C-T	c.800C>T	p.T267I	Missense	7/18	-	1
21-22707890-T-C	c.803T>C	p.V268A	Missense	7/18	-	2
21-22707894-G-A	c.807G>A	p.R269=	Synonymous	7/18	-	1
21-22707907-A-T	c.820A>T	p.S274C	Missense	7/18	-	1
21-22707908-G-A	c.821G>A	p.S274N	Missense	7/18	-	1
21-22707910-G-A	c.823G>A	p.D275N	Missense	7/18	-	1
21-22707911-A-T	c.824A>T	p.D275V	Missense	7/18	-	3
21-22707913-G-A	c.826G>A	p.G276S	Missense	7/18	-	1
21-22707913-G-C	c.826G>C	p.G276R	Missense	7/18	-	1
21-22707914-G-T	c.827G>T	p.G276V	Missense	7/18	-	1
21-22707916-G-T	c.829G>T	p.G277C	Missense	7/18	-	1
21-22707915-TG-T	c.830del	p.G277Vfs*28	Frameshift	7/18	-	1
21-22707917-G-T	c.830G>T	p.G277V	Missense	7/18	-	1
21-22707918-T-C	c.831T>C	p.G277=	Synonymous	7/18	-	1
21-22707919-C-G	c.832C>G	p.P278A	Missense	7/18	-	2
21-22707919-C-T	c.832C>T	p.P278S	Missense	7/18	-	1
21-22707921-T-A	c.834T>A	p.P278=	Synonymous	7/18	-	1
21-22707921-T-C	c.834T>C	p.P278=	Synonymous	7/18	-	1
21-22707921-T-G	c.834T>G	p.P278=	Synonymous	7/18	-	2
21-22707925-G-T	c.838G>T	p.V280F	Missense	7/18	-	3
21-22707927-C-G	c.840C>G	p.V280=	Synonymous	7/18	-	1
21-22707928-T-C	c.841T>C	p.C281R	Missense	7/18	-	1
21-22707934-G-A	c.847G>A	p.A283T	Missense	7/18	-	1
21-22707935-C-G	c.848C>G	p.A283G	Missense	7/18	-	1
21-22707943-A-G	c.856A>G	p.K286E	Missense	7/18	-	1
21-22707946-G-A	c.859G>A	p.A287T	Missense	7/18	-	1
21-22707947-C-T	c.860C>T	p.A287V	Missense	7/18	-	1
21-22707949-G-A	c.862G>A	p.G288R	Missense	7/18	-	2
21-22707949-G-C	c.862G>C	p.G288R	Missense	7/18	-	3
21-22707950-G-A	c.863G>A	p.G288E	Missense	7/18	-	1
21-22707950-G-T	c.863G>T	p.G288V	Missense	7/18	-	1
21-22707956-A-G	c.869A>G	p.D290G	Missense	7/18	-	1
21-22707958-G-C	c.871G>C	p.E291Q	Missense	7/18	-	1
21-22707958-G-GA	c.875dup	p.Q293Afs*16	Frameshift	7/18	-	1
21-22707965-A-C	c.878A>C	p.Q293P	Missense	7/18	-	1
21-22707967-G-C	c.880G>C	p.A294P	Missense	7/18	-	1
21-22707967-G-T	c.880G>T	p.A294S	Missense	7/18	-	1
21-22707970-T-C	c.883T>C	p.F295L	Missense	7/18	-	1
21-22707972-C-A	c.885C>A	p.F295L	Missense	7/18	-	1
21-22707972-C-G	c.885C>G	p.F295L	Missense	7/18	-	3
21-22707972-C-T	c.885C>T	p.F295=	Synonymous	7/18	-	1
21-22707973-C-T	c.886C>T	p.L296F	Missense	7/18	-	2
21-22707974-T-A	c.887T>A	p.L296H	Missense	7/18	-	1
21-22707974-T-G	c.887T>G	p.L296R	Missense	7/18	-	1
21-22707975-C-A	c.888C>A	p.L296=	Synonymous	7/18	-	1
21-22707976-C-T	c.889C>T	p.Q297*	Nonsense	7/18	-	4
21-22707977-A-G	c.890A>G	p.Q297R	Missense	7/18	-	1
21-22707981-C-G	c.894C>G	p.V298=	Synonymous	7/18	-	1
21-22708169-T-C	c.898+184T>C	-	IntronicSNV	-	7/17	1
21-22708205-G-A	c.898+220G>A	-	IntronicSNV	-	7/17	1
21-22708216-A-T	c.898+231A>T	-	IntronicSNV	-	7/17	1
21-22708596-TA-T	c.898+617del	-	IntronicDeletion	-	7/17	1
21-22708700-A-G	c.898+715A>G	-	IntronicSNV	-	7/17	1
21-22710501-G-A	c.899-208G>A	-	IntronicSNV	-	7/17	1
21-22710501-G-T	c.899-208G>T	-	IntronicSNV	-	7/17	1
21-22710680-C-T	c.899-29C>T	-	IntronicSNV	-	7/17	2
21-22710713-G-C	c.903G>C	p.Q301H	Missense	8/18	-	1
21-22710713-G-T	c.903G>T	p.Q301H	Missense	8/18	-	2
21-22710714-C-T	c.904C>T	p.P302S	Missense	8/18	-	5
21-22710717-C-G	c.907C>G	p.H303D	Missense	8/18	-	1
21-22710719-C-A	c.909C>A	p.H303Q	Missense	8/18	-	1
21-22710719-C-G	c.909C>G	p.H303Q	Missense	8/18	-	1
21-22710720-ATA-TTT	c.910_912delinsTTT	p.I304F	Missense	8/18	-	1
21-22710726-CA-AC	c.916_917delinsAC	p.Q306T	Missense	8/18	-	1
21-22710726-C-T	c.916C>T	p.Q306*	Nonsense	8/18	-	2
21-22710727-A-T	c.917A>T	p.Q306L	Missense	8/18	-	1
21-22710728-G-A	c.918G>A	p.Q306=	Synonymous	8/18	-	1
21-22710729-C-G	c.919C>G	p.L307V	Missense	8/18	-	1
21-22710734-A-C	c.924A>C	p.K308N	Missense	8/18	-	1
21-22710734-A-T	c.924A>T	p.K308N	Missense	8/18	-	1
21-22710731-TA-T	c.926del	p.N309Mfs*62	Frameshift	8/18	-	2
21-22710740-A-C	c.930A>C	p.E310D	Missense	8/18	-	2
21-22710745-CA-TG	c.935_936inv	p.T312M	Missense	8/18	-	2
21-22710750-G-T	c.940G>T	p.E314*	Nonsense	8/18	-	2
21-22710751-A-G	c.941A>G	p.E314G	Missense	8/18	-	1
21-22710752-G-C	c.942G>C	p.E314D	Missense	8/18	-	1
21-22710752-G-T	c.942G>T	p.E314D	Missense	8/18	-	1
21-22710754-A-T	c.944A>T	p.N315I	Missense	8/18	-	1
21-22710756-G-T	c.946G>T	p.G316C	Missense	8/18	-	1
21-22710759-C-A	c.949C>A	p.Q317K	Missense	8/18	-	2
21-22710759-C-T	c.949C>T	p.Q317*	Nonsense	8/18	-	1
21-22710761-A-G	c.951A>G	p.Q317=	Synonymous	8/18	-	2
21-22710761-A-T	c.951A>T	p.Q317H	Missense	8/18	-	1
21-22710768-C-G	c.958C>G	p.L320V	Missense	8/18	-	1
21-22710769-T-A	c.959T>A	p.L320H	Missense	8/18	-	2
21-22710770-C-A	c.960C>A	p.L320=	Synonymous	8/18	-	2
21-22710770-C-G	c.960C>G	p.L320=	Synonymous	8/18	-	3
21-22710770-C-T	c.960C>T	p.L320=	Synonymous	8/18	-	4
21-22710771-G-C	c.961G>C	p.V321L	Missense	8/18	-	1
21-22710779-T-C	c.969T>C	p.D323=	Synonymous	8/18	-	1
21-22710781-C-T	c.971C>T	p.A324V	Missense	8/18	-	1
21-22710783-G-T	c.973G>T	p.E325*	Nonsense	8/18	-	2
21-22710786-G-A	c.976G>A	p.G326R	Missense	8/18	-	2
21-22710786-G-C	c.976G>C	p.G326R	Missense	8/18	-	2
21-22710787-G-T	c.977G>T	p.G326V	Missense	8/18	-	1
21-22710788-G-A	c.978G>A	p.G326=	Synonymous	8/18	-	1
21-22710788-G-C	c.978G>C	p.G326=	Synonymous	8/18	-	1
21-22710788-G-T	c.978G>T	p.G326=	Synonymous	8/18	-	2
21-22710789-G-A	c.979G>A	p.E327K	Missense	8/18	-	4
21-22710789-G-T	c.979G>T	p.E327*	Nonsense	8/18	-	1
21-22710791-G-A	c.981G>A	p.E327=	Synonymous	8/18	-	1
21-22710792-C-T	c.982C>T	p.P328S	Missense	8/18	-	2
21-22710798-C-T	c.988C>T	p.P330S	Missense	8/18	-	3
21-22710799-C-T	c.989C>T	p.P330L	Missense	8/18	-	1
21-22710801-G-A	c.991G>A	p.E331K	Missense	8/18	-	1
21-22710806-C-A	c.996C>A	p.I332=	Synonymous	8/18	-	1
21-22710808-C-A	c.998C>A	p.T333N	Missense	8/18	-	2
21-22710811-G-C	c.1001G>C	p.W334S	Missense	8/18	-	1
21-22710812-G-C	c.1002G>C	p.W334C	Missense	8/18	-	3
21-22710812-G-T	c.1002G>T	p.W334C	Missense	8/18	-	3
21-22710816-AGA-CAT	c.1006_1008delinsCAT	p.R336H	Missense	8/18	-	1
21-22710816-AGA-TGG	c.1006_1008delinsTGG	p.R336W	Missense	8/18	-	1
21-22710816-A-T	c.1006A>T	p.R336*	Nonsense	8/18	-	2
21-22710819-G-T	c.1009G>T	p.A337S	Missense	8/18	-	2
21-22710820-C-T	c.1010C>T	p.A337V	Missense	8/18	-	1
21-22710821-T-G	c.1011T>G	p.A337=	Synonymous	8/18	-	1
21-22710822-G-T	c.1012G>T	p.V338L	Missense	8/18	-	2
21-22710824-G-A	c.1014G>A	p.V338=	Synonymous	8/18	-	1
21-22710824-G-C	c.1014G>C	p.V338=	Synonymous	8/18	-	1
21-22710824-G-T	c.1014G>T	p.V338=	Synonymous	8/18	-	2
21-22710825-G-A	c.1015G>A	p.D339N	Missense	8/18	-	1
21-22710825-G-T	c.1015G>T	p.D339Y	Missense	8/18	-	1
21-22710830-C-A	c.1020C>A	p.G340=	Synonymous	8/18	-	1
21-22710830-C-G	c.1020C>G	p.G340=	Synonymous	8/18	-	1
21-22710830-C-T	c.1020C>T	p.G340=	Synonymous	8/18	-	1
21-22710831-T-C	c.1021T>C	p.F341L	Missense	8/18	-	1
21-22710833-C-A	c.1023C>A	p.F341L	Missense	8/18	-	1
21-22710833-C-G	c.1023C>G	p.F341L	Missense	8/18	-	1
21-22710835-C-G	c.1025C>G	p.T342R	Missense	8/18	-	3
21-22710835-C-T	c.1025C>T	p.T342M	Missense	8/18	-	1
21-22710836-G-A	c.1026G>A	p.T342=	Synonymous	8/18	-	3
21-22710836-G-C	c.1026G>C	p.T342=	Synonymous	8/18	-	2
21-22710836-G-T	c.1026G>T	p.T342=	Synonymous	8/18	-	2
21-22710843-G-A	c.1033G>A	p.E345K	Missense	8/18	-	3
21-22710843-G-T	c.1033G>T	p.E345*	Nonsense	8/18	-	1
21-22710846-G-A	c.1036G>A	p.G346S	Missense	8/18	-	1
21-22710847-G-A	c.1037G>A	p.G346D	Missense	8/18	-	2
21-22710847-G-C	c.1037G>C	p.G346A	Missense	8/18	-	1
21-22710848-C-T	c.1038C>T	p.G346=	Synonymous	8/18	-	1
21-22710849-G-A	c.1039G>A	p.D347N	Missense	8/18	-	5
21-22710852-A-G	c.1042A>G	p.K348E	Missense	8/18	-	3
21-22710853-A-C	c.1043A>C	p.K348T	Missense	8/18	-	1
21-22710894-C-T	c.1044+40C>T	-	IntronicSNV	-	8/17	1
21-22711014-C-A	c.1044+160C>A	-	IntronicSNV	-	8/17	2
21-22711728-T-C	c.1044+874T>C	-	IntronicSNV	-	8/17	1
21-22711827-C-T	c.1044+973C>T	-	IntronicSNV	-	8/17	1
21-22714070-CA-C	c.1044+3224del	-	IntronicDeletion	-	8/17	1
21-22715523-A-T	c.1044+4669A>T	-	IntronicSNV	-	8/17	1
21-22715678-T-C	c.1044+4824T>C	-	IntronicSNV	-	8/17	2
21-22718301-G-A	c.1044+7447G>A	-	IntronicSNV	-	8/17	1
21-22718528-C-A	c.1044+7674C>A	-	IntronicSNV	-	8/17	1
21-22723512-T-C	c.1044+12658T>C	-	IntronicSNV	-	8/17	1
21-22724601-G-T	c.1044+13747G>T	-	IntronicSNV	-	8/17	1
21-22726839-G-A	c.1044+15985G>A	-	IntronicSNV	-	8/17	1
21-22729232-T-C	c.1045-16951T>C	-	IntronicSNV	-	8/17	1
21-22743803-G-A	c.1045-2380G>A	-	IntronicSNV	-	8/17	1
21-22746184-G-A	c.1046G>A	p.S349N	Missense	9/18	-	2
21-22746184-G-T	c.1046G>T	p.S349I	Missense	9/18	-	1
21-22746186-C-A	c.1048C>A	p.L350M	Missense	9/18	-	1
21-22746186-C-T	c.1048C>T	p.L350=	Synonymous	9/18	-	1
21-22746187-T-A	c.1049T>A	p.L350Q	Missense	9/18	-	1
21-22746187-T-C	c.1049T>C	p.L350P	Missense	9/18	-	27
21-22746188-G-A	c.1050G>A	p.L350=	Synonymous	9/18	-	4
21-22746189-G-A	c.1051G>A	p.D351N	Missense	9/18	-	3
21-22746191-C-T	c.1053C>T	p.D351=	Synonymous	9/18	-	2
21-22746192-G-A	c.1054G>A	p.G352S	Missense	9/18	-	1
21-22746194-C-A	c.1056C>A	p.G352=	Synonymous	9/18	-	1
21-22746194-C-G	c.1056C>G	p.G352=	Synonymous	9/18	-	1
21-22746194-C-T	c.1056C>T	p.G352=	Synonymous	9/18	-	2
21-22746195-C-T	c.1057C>T	p.R353C	Missense	9/18	-	2
21-22746196-G-T	c.1058G>T	p.R353L	Missense	9/18	-	3
21-22746200-C-A	c.1062C>A	p.I354=	Synonymous	9/18	-	1
21-22746200-C-G	c.1062C>G	p.I354M	Missense	9/18	-	2
21-22746200-C-T	c.1062C>T	p.I354=	Synonymous	9/18	-	4
21-22746201-G-A	c.1063G>A	p.E355K	Missense	9/18	-	6
21-22746202-A-G	c.1064A>G	p.E355G	Missense	9/18	-	1
21-22746206-C-A	c.1068C>A	p.V356=	Synonymous	9/18	-	3
21-22746206-C-G	c.1068C>G	p.V356=	Synonymous	9/18	-	1
21-22746206-C-T	c.1068C>T	p.V356=	Synonymous	9/18	-	2
21-22746209-A-C	c.1071A>C	p.K357N	Missense	9/18	-	1
21-22746209-A-G	c.1071A>G	p.K357=	Synonymous	9/18	-	1
21-22746209-A-T	c.1071A>T	p.K357N	Missense	9/18	-	1
21-22746210-G-T	c.1072G>T	p.G358W	Missense	9/18	-	2
21-22746219-G-A	c.1081G>A	p.G361R	Missense	9/18	-	1
21-22746219-G-C	c.1081G>C	p.G361R	Missense	9/18	-	1
21-22746224-C-A	c.1086C>A	p.S362R	Missense	9/18	-	1
21-22746228-T-A	c.1090T>A	p.S364T	Missense	9/18	-	1
21-22746228-T-G	c.1090T>G	p.S364A	Missense	9/18	-	1
21-22746233-G-A	c.1095G>A	p.L365=	Synonymous	9/18	-	1
21-22746235-A-T	c.1097A>T	p.H366L	Missense	9/18	-	4
21-22746240-A-C	c.1102A>C	p.K368Q	Missense	9/18	-	1
21-22746240-A-G	c.1102A>G	p.K368E	Missense	9/18	-	3
21-22746242-A-C	c.1104A>C	p.K368N	Missense	9/18	-	1
21-22746242-A-T	c.1104A>T	p.K368N	Missense	9/18	-	1
21-22746243-G-C	c.1105G>C	p.D369H	Missense	9/18	-	1
21-22746243-G-T	c.1105G>T	p.D369Y	Missense	9/18	-	1
21-22746246-G-A	c.1108G>A	p.V370M	Missense	9/18	-	2
21-22746246-G-T	c.1108G>T	p.V370L	Missense	9/18	-	1
21-22746251-G-C	c.1113G>C	p.K371N	Missense	9/18	-	1
21-22746251-G-T	c.1113G>T	p.K371N	Missense	9/18	-	2
21-22746252-T-C	c.1114T>C	p.L372=	Synonymous	9/18	-	1
21-22746252-T-G	c.1114T>G	p.L372V	Missense	9/18	-	1
21-22746254-G-A	c.1116G>A	p.L372=	Synonymous	9/18	-	1
21-22746256-C-A	c.1118C>A	p.S373*	Nonsense	9/18	-	1
21-22746256-CA-TT	c.1118_1119delinsTT	p.S373F	Missense	9/18	-	1
21-22746261-T-C	c.1123T>C	p.S375P	Missense	9/18	-	1
21-22746264-G-A	c.1126G>A	p.G376R	Missense	9/18	-	2
21-22746265-G-A	c.1127G>A	p.G376E	Missense	9/18	-	1
21-22746271-A-T	c.1133A>T	p.Y378F	Missense	9/18	-	1
21-22746273-G-C	c.1135G>C	p.D379H	Missense	9/18	-	2
21-22746276-T-A	c.1138T>A	p.C380S	Missense	9/18	-	2
21-22746277-G-C	c.1139G>C	p.C380S	Missense	9/18	-	1
21-22746277-G-A	c.1139G>A	p.C380Y	Missense	9/18	-	1
21-22746280-A-T	c.1142A>T	p.E381V	Missense	9/18	-	2
21-22746285-G-T	c.1147G>T	p.A383S	Missense	9/18	-	3
21-22746287-A-C	c.1149A>C	p.A383=	Synonymous	9/18	-	1
21-22746287-A-G	c.1149A>G	p.A383=	Synonymous	9/18	-	1
21-22746287-A-T	c.1149A>T	p.A383=	Synonymous	9/18	-	1
21-22746291-AGA-TGT	c.1153_1155delinsTGT	p.R385C	Missense	9/18	-	1
21-22746298-G-A	c.1160G>A	p.G387E	Missense	9/18	-	1
21-22746299-A-G	c.1161A>G	p.G387=	Synonymous	9/18	-	1
21-22746300-G-T	c.1162G>T	p.G388W	Missense	9/18	-	2
21-22746306-C-T	c.1168C>T	p.Q390*	Nonsense	9/18	-	2
21-22746308-A-G	c.1170A>G	p.Q390=	Synonymous	9/18	-	2
21-22746311-G-A	c.1173G>A	p.K391=	Synonymous	9/18	-	1
21-22746311-G-C	c.1173G>C	p.K391N	Missense	9/18	-	2
21-22746313-G-A	c.1175G>A	p.S392N	Missense	9/18	-	1
21-22746320-C-A	c.1182C>A	p.Y394*	Nonsense	9/18	-	1
21-22746320-C-G	c.1182C>G	p.Y394*	Nonsense	9/18	-	1
21-22746321-C-A	c.1183C>A	p.L395I	Missense	9/18	-	1
21-22746321-C-T	c.1183C>T	p.L395F	Missense	9/18	-	1
21-22746324-G-A	c.1186G>A	p.D396N	Missense	9/18	-	1
21-22746327-A-G	c.1189A>G	p.I397V	Missense	9/18	-	2
21-22746329-T-A	c.1191T>A	p.I397=	Synonymous	9/18	-	1
21-22746329-T-C	c.1191T>C	p.I397=	Synonymous	9/18	-	1
21-22746330-G-T	c.1192G>T	p.E398*	Nonsense	9/18	-	1
21-22746333-T-C	c.1195T>C	p.Y399H	Missense	9/18	-	1
21-22746334-G-A	c.1195+1G>A	-	IntronicSNV	-	9/17	1
21-22746382-G-C	c.1195+49G>C	-	IntronicSNV	-	9/17	1
21-22746509-A-G	c.1195+176A>G	-	IntronicSNV	-	9/17	1
21-22751848-A-T	c.1195+5515A>T	-	IntronicSNV	-	9/17	1
21-22757715-C-T	c.1195+11382C>T	-	IntronicSNV	-	9/17	2
21-22757715-C-CACACACACACACACACAT	c.1195+11386_1195+11387insACACACACACACATACAC	-	IntronicInsertion	-	9/17	1
21-22757715-C-CACACACACACACACAT	c.1195+11386_1195+11387insACACACACACATACAC	-	IntronicInsertion	-	9/17	1
21-22757715-C-CACACACACACACAT	c.1195+11386_1195+11387insACACACACATACAC	-	IntronicInsertion	-	9/17	1
21-22757715-C-CACACACACACAT	c.1195+11386_1195+11387insACACACATACAC	-	IntronicInsertion	-	9/17	1
21-22757715-C-CACACACACAT	c.1195+11386_1195+11387insACACATACAC	-	IntronicInsertion	-	9/17	1
21-22757715-C-CACACACAT	c.1195+11386_1195+11387insACATACAC	-	IntronicInsertion	-	9/17	1
21-22757715-C-CACACAT	c.1195+11386_1195+11387insATACAC	-	IntronicInsertion	-	9/17	1
21-22757720-G-A	c.1195+11387G>A	-	IntronicSNV	-	9/17	1
21-22757731-T-C	c.1195+11398T>C	-	IntronicSNV	-	9/17	1
21-22757976-G-A	c.1195+11643G>A	-	IntronicSNV	-	9/17	1
21-22762779-A-G	c.1195+16446A>G	-	IntronicSNV	-	9/17	1
21-22762952-T-A	c.1195+16619T>A	-	IntronicSNV	-	9/17	1
21-22765507-A-C	c.1196-17087A>C	-	IntronicSNV	-	9/17	1
21-22782596-G-T	c.1198G>T	p.A400S	Missense	10/18	-	1
21-22782597-C-A	c.1199C>A	p.A400D	Missense	10/18	-	2
21-22782597-C-T	c.1199C>T	p.A400V	Missense	10/18	-	1
21-22782598-C-T	c.1200C>T	p.A400=	Synonymous	10/18	-	1
21-22782600-C-A	c.1202C>A	p.P401H	Missense	10/18	-	1
21-22782603-A-T	c.1205A>T	p.K402M	Missense	10/18	-	3
21-22782619-A-C	c.1221A>C	p.Q407H	Missense	10/18	-	1
21-22782619-A-T	c.1221A>T	p.Q407H	Missense	10/18	-	1
21-22782621-C-G	c.1223C>G	p.T408R	Missense	10/18	-	1
21-22782625-T-C	c.1227T>C	p.I409=	Synonymous	10/18	-	2
21-22782625-T-G	c.1227T>G	p.I409M	Missense	10/18	-	2
21-22782629-T-A	c.1231T>A	p.Y411N	Missense	10/18	-	3
21-22782631-C-A	c.1233C>A	p.Y411*	Nonsense	10/18	-	2
21-22782631-C-G	c.1233C>G	p.Y411*	Nonsense	10/18	-	2
21-22782633-C-T	c.1235C>T	p.S412F	Missense	10/18	-	1
21-22782634-T-A	c.1236T>A	p.S412=	Synonymous	10/18	-	1
21-22782634-T-C	c.1236T>C	p.S412=	Synonymous	10/18	-	1
21-22782634-T-G	c.1236T>G	p.S412=	Synonymous	10/18	-	1
21-22782636-G-A	c.1238G>A	p.W413*	Nonsense	10/18	-	1
21-22782636-G-T	c.1238G>T	p.W413L	Missense	10/18	-	3
21-22782637-G-C	c.1239G>C	p.W413C	Missense	10/18	-	3
21-22782637-G-T	c.1239G>T	p.W413C	Missense	10/18	-	6
21-22782641-G-A	c.1243G>A	p.G415R	Missense	10/18	-	1
21-22782642-G-A	c.1244G>A	p.G415E	Missense	10/18	-	2
21-22782642-G-C	c.1244G>C	p.G415A	Missense	10/18	-	2
21-22782647-C-T	c.1249C>T	p.P417S	Missense	10/18	-	2
21-22782648-C-T	c.1250C>T	p.P417L	Missense	10/18	-	2
21-22782650-A-G	c.1252A>G	p.I418V	Missense	10/18	-	2
21-22782657-T-A	c.1259T>A	p.I420K	Missense	10/18	-	1
21-22782659-A-C	c.1261A>C	p.S421R	Missense	10/18	-	2
21-22782660-G-C	c.1262G>C	p.S421T	Missense	10/18	-	1
21-22782663-G-T	c.1265G>T	p.C422F	Missense	10/18	-	1
21-22782664-T-A	c.1266T>A	p.C422*	Nonsense	10/18	-	3
21-22782667-T-C	c.1269T>C	p.D423=	Synonymous	10/18	-	2
21-22782675-C-T	c.1277C>T	p.S426L	Missense	10/18	-	3
21-22782676-G-A	c.1278G>A	p.S426=	Synonymous	10/18	-	3
21-22782676-G-C	c.1278G>C	p.S426=	Synonymous	10/18	-	1
21-22782676-G-T	c.1278G>T	p.S426=	Synonymous	10/18	-	1
21-22782679-T-A	c.1281T>A	p.N427K	Missense	10/18	-	1
21-22782679-T-G	c.1281T>G	p.N427K	Missense	10/18	-	1
21-22782680-C-T	c.1282C>T	p.P428S	Missense	10/18	-	4
21-22782681-C-A	c.1283C>A	p.P428Q	Missense	10/18	-	1
21-22782686-G-T	c.1288G>T	p.A430S	Missense	10/18	-	2
21-22782687-C-G	c.1289C>G	p.A430G	Missense	10/18	-	1
21-22782690-C-T	c.1292C>T	p.S431L	Missense	10/18	-	1
21-22782691-A-C	c.1293A>C	p.S431=	Synonymous	10/18	-	1
21-22782690-CA-C	c.1294del	p.I432Ffs*8	Frameshift	10/18	-	4
21-22782701-AG-CA	c.1303_1304delinsCA	p.R435Q	Missense	10/18	-	1
21-22782704-A-G	c.1306A>G	p.R436G	Missense	10/18	-	2
21-22782705-G-T	c.1307G>T	p.R436I	Missense	10/18	-	1
21-22782719-T-C	c.1321T>C	p.L441=	Synonymous	10/18	-	1
21-22782721-A-G	c.1323A>G	p.L441=	Synonymous	10/18	-	1
21-22782720-T-A	c.1322T>A	p.L441*	Nonsense	10/18	-	1
21-22782720-T-G	c.1322T>G	p.L441*	Nonsense	10/18	-	1
21-22782722-C-A	c.1324C>A	p.P442T	Missense	10/18	-	1
21-22782725-G-A	c.1327G>A	p.A443T	Missense	10/18	-	1
21-22782726-C-CT	c.1329dup	p.K444*	Nonsense	10/18	-	1
21-22782729-A-G	c.1331A>G	p.K444R	Missense	10/18	-	1
21-22782731-A-C	c.1333A>C	p.N445H	Missense	10/18	-	1
21-22782727-TA-T	c.1334del	p.N445Tfs*5	Frameshift	10/18	-	2
21-22782732-A-C	c.1334A>C	p.N445T	Missense	10/18	-	1
21-22782734-A-G	c.1336A>G	p.T446A	Missense	10/18	-	1
21-22782737-A-C	c.1339A>C	p.T447P	Missense	10/18	-	1
21-22782738-C-T	c.1340C>T	p.T447I	Missense	10/18	-	3
21-22782741-A-G	c.1343A>G	p.N448S	Missense	10/18	-	2
21-22782751-T-A	c.1353T>A	p.T451=	Synonymous	10/18	-	5
21-22782759-C-A	c.1361C>A	p.T454K	Missense	10/18	-	1
21-22782762-G-A	c.1364G>A	p.G455E	Missense	10/18	-	5
21-22782764-AG-CA	c.1366_1367delinsCA	p.R456Q	Missense	10/18	-	1
21-22782769-G-A	c.1371G>A	p.K457=	Synonymous	10/18	-	1
21-22782770-A-G	c.1372A>G	p.M458V	Missense	10/18	-	1
21-22782771-T-G	c.1373T>G	p.M458R	Missense	10/18	-	1
21-22782772-G-A	c.1374G>A	p.M458I	Missense	10/18	-	1
21-22782773-A-G	c.1375A>G	p.I459V	Missense	10/18	-	1
21-22782781-G-A	c.1383G>A	p.E461=	Synonymous	10/18	-	3
21-22783886-G-A	c.1383+1105G>A	-	IntronicSNV	-	10/17	1
21-22790426-C-T	c.1384-367C>T	-	IntronicSNV	-	10/17	1
21-22790630-A-G	c.1384-163A>G	-	IntronicSNV	-	10/17	1
21-22790794-T-A	c.1385T>A	p.I462N	Missense	11/18	-	1
21-22790794-T-C	c.1385T>C	p.I462T	Missense	11/18	-	3
21-22790796-G-T	c.1387G>T	p.A463S	Missense	11/18	-	1
21-22790797-C-T	c.1388C>T	p.A463V	Missense	11/18	-	1
21-22790798-A-C	c.1389A>C	p.A463=	Synonymous	11/18	-	1
21-22790798-A-G	c.1389A>G	p.A463=	Synonymous	11/18	-	1
21-22790798-A-T	c.1389A>T	p.A463=	Synonymous	11/18	-	1
21-22790800-C-A	c.1391C>A	p.P464H	Missense	11/18	-	1
21-22790801-T-C	c.1392T>C	p.P464=	Synonymous	11/18	-	3
21-22790803-C-G	c.1394C>G	p.T465R	Missense	11/18	-	1
21-22790811-A-G	c.1402A>G	p.N468D	Missense	11/18	-	1
21-22790816-AC-A	c.1407del	p.F470Lfs*12	Frameshift	11/18	-	1
21-22790820-G-A	c.1411G>A	p.G471R	Missense	11/18	-	1
21-22790821-G-A	c.1412G>A	p.G471E	Missense	11/18	-	1
21-22790823-C-A	c.1414C>A	p.R472S	Missense	11/18	-	1
21-22790823-C-T	c.1414C>T	p.R472C	Missense	11/18	-	1
21-22790824-G-A	c.1415G>A	p.R472H	Missense	11/18	-	1
21-22790825-C-A	c.1416C>A	p.R472=	Synonymous	11/18	-	2
21-22790825-C-G	c.1416C>G	p.R472=	Synonymous	11/18	-	2
21-22790825-C-T	c.1416C>T	p.R472=	Synonymous	11/18	-	2
21-22790828-T-A	c.1419T>A	p.Y473*	Nonsense	11/18	-	1
21-22790829-A-G	c.1420A>G	p.N474D	Missense	11/18	-	4
21-22790831-T-C	c.1422T>C	p.N474=	Synonymous	11/18	-	1
21-22790834-C-G	c.1425C>G	p.C475W	Missense	11/18	-	2
21-22790835-A-C	c.1426A>C	p.T476P	Missense	11/18	-	1
21-22790836-C-A	c.1427C>A	p.T476K	Missense	11/18	-	1
21-22790836-C-T	c.1427C>T	p.T476I	Missense	11/18	-	3
21-22790839-C-T	c.1430C>T	p.A477V	Missense	11/18	-	1
21-22790842-C-CTTTTACACATTT	c.1434_1435insTTTACACATTTT	p.T478_N479insFTHF	InFrameInsertion	11/18	-	2
21-22790845-A-T	c.1436A>T	p.N479I	Missense	11/18	-	3
21-22790847-C-T	c.1438C>T	p.H480Y	Missense	11/18	-	1
21-22790850-A-C	c.1441A>C	p.I481L	Missense	11/18	-	1
21-22790850-A-T	c.1441A>T	p.I481L	Missense	11/18	-	3
21-22790855-A-C	c.1446A>C	p.G482=	Synonymous	11/18	-	1
21-22790855-A-G	c.1446A>G	p.G482=	Synonymous	11/18	-	1
21-22790855-A-T	c.1446A>T	p.G482=	Synonymous	11/18	-	1
21-22790860-G-A	c.1451G>A	p.R484K	Missense	11/18	-	2
21-22790863-T-G	c.1454T>G	p.F485C	Missense	11/18	-	1
21-22790865-C-T	c.1456C>T	p.Q486*	Nonsense	11/18	-	1
21-22790868-G-A	c.1459G>A	p.E487K	Missense	11/18	-	1
21-22790868-G-T	c.1459G>T	p.E487*	Nonsense	11/18	-	4
21-22790870-A-C	c.1461A>C	p.E487D	Missense	11/18	-	1
21-22790871-T-C	c.1462T>C	p.Y488H	Missense	11/18	-	1
21-22790872-A-G	c.1463A>G	p.Y488C	Missense	11/18	-	2
21-22790873-T-A	c.1464T>A	p.Y488*	Nonsense	11/18	-	2
21-22790873-T-G	c.1464T>G	p.Y488*	Nonsense	11/18	-	2
21-22790875-T-C	c.1466T>C	p.I489T	Missense	11/18	-	1
21-22790877-C-A	c.1468C>A	p.L490I	Missense	11/18	-	2
21-22790877-C-T	c.1468C>T	p.L490F	Missense	11/18	-	1
21-22790885-G-C	c.1476G>C	p.L492F	Missense	11/18	-	1
21-22790885-G-T	c.1476G>T	p.L492F	Missense	11/18	-	2
21-22790886-G-A	c.1477G>A	p.A493T	Missense	11/18	-	1
21-22790886-G-T	c.1477G>T	p.A493S	Missense	11/18	-	2
21-22790887-C-A	c.1478C>A	p.A493D	Missense	11/18	-	3
21-22790889-G-T	c.1480G>T	p.D494Y	Missense	11/18	-	1
21-22790890-G-C	c.1480+1G>C	-	IntronicSNV	-	11/17	1
21-22790919-G-A	c.1480+30G>A	-	IntronicSNV	-	11/17	4
21-22790936-G-A	c.1480+47G>A	-	IntronicSNV	-	11/17	3
21-22790965-G-T	c.1480+76G>T	-	IntronicSNV	-	11/17	1
21-22791034-A-G	c.1480+145A>G	-	IntronicSNV	-	11/17	1
21-22804416-C-A	c.1481-12C>A	-	IntronicSNV	-	11/17	1
21-22804429-C-A	c.1482C>A	p.D494E	Missense	12/18	-	1
21-22804429-C-T	c.1482C>T	p.D494=	Synonymous	12/18	-	1
21-22804431-T-C	c.1484T>C	p.V495A	Missense	12/18	-	1
21-22804437-C-T	c.1490C>T	p.S497F	Missense	12/18	-	2
21-22804439-AGT-TGA	c.1492_1494delinsTGA	p.S498*	Nonsense	12/18	-	1
21-22804442-C-T	c.1495C>T	p.P499S	Missense	12/18	-	3
21-22804443-C-G	c.1496C>G	p.P499R	Missense	12/18	-	1
21-22804443-C-T	c.1496C>T	p.P499L	Missense	12/18	-	2
21-22804445-T-C	c.1498T>C	p.Y500H	Missense	12/18	-	2
21-22804447-T-A	c.1500T>A	p.Y500*	Nonsense	12/18	-	1
21-22804448-G-A	c.1501G>A	p.G501R	Missense	12/18	-	1
21-22804449-G-A	c.1502G>A	p.G501E	Missense	12/18	-	1
21-22804449-G-C	c.1502G>C	p.G501A	Missense	12/18	-	2
21-22804451-G-A	c.1504G>A	p.V502M	Missense	12/18	-	1
21-22804451-G-T	c.1504G>T	p.V502L	Missense	12/18	-	1
21-22804453-G-A	c.1506G>A	p.V502=	Synonymous	12/18	-	1
21-22804459-C-A	c.1512C>A	p.I504=	Synonymous	12/18	-	3
21-22804459-C-T	c.1512C>T	p.I504=	Synonymous	12/18	-	1
21-22804460-A-G	c.1513A>G	p.I505V	Missense	12/18	-	1
21-22804463-G-A	c.1516G>A	p.E506K	Missense	12/18	-	3
21-22804465-G-T	c.1518G>T	p.E506D	Missense	12/18	-	1
21-22804466-C-A	c.1519C>A	p.L507M	Missense	12/18	-	2
21-22804466-C-T	c.1519C>T	p.L507=	Synonymous	12/18	-	1
21-22804468-G-A	c.1521G>A	p.L507=	Synonymous	12/18	-	2
21-22804468-G-C	c.1521G>C	p.L507=	Synonymous	12/18	-	1
21-22804468-G-T	c.1521G>T	p.L507=	Synonymous	12/18	-	1
21-22804469-T-A	c.1522T>A	p.S508T	Missense	12/18	-	2
21-22804469-T-C	c.1522T>C	p.S508P	Missense	12/18	-	2
21-22804470-C-G	c.1523C>G	p.S508W	Missense	12/18	-	1
21-22804470-C-T	c.1523C>T	p.S508L	Missense	12/18	-	3
21-22804471-G-A	c.1524G>A	p.S508=	Synonymous	12/18	-	1
21-22804471-G-C	c.1524G>C	p.S508=	Synonymous	12/18	-	1
21-22804471-G-T	c.1524G>T	p.S508=	Synonymous	12/18	-	1
21-22804472-C-T	c.1525C>T	p.Q509*	Nonsense	12/18	-	3
21-22804474-G-A	c.1527G>A	p.Q509=	Synonymous	12/18	-	1
21-22804479-C-T	c.1532C>T	p.T511M	Missense	12/18	-	2
21-22804480-G-A	c.1533G>A	p.T511=	Synonymous	12/18	-	1
21-22804480-G-C	c.1533G>C	p.T511=	Synonymous	12/18	-	1
21-22804480-G-T	c.1533G>T	p.T511=	Synonymous	12/18	-	1
21-22804481-G-A	c.1534G>A	p.A512T	Missense	12/18	-	1
21-22804482-C-T	c.1535C>T	p.A512V	Missense	12/18	-	1
21-22804485-A-C	c.1538A>C	p.K513T	Missense	12/18	-	1
21-22804487-G-A	c.1540G>A	p.V514I	Missense	12/18	-	1
21-22804489-T-A	c.1542T>A	p.V514=	Synonymous	12/18	-	1
21-22804491-C-T	c.1544C>T	p.S515F	Missense	12/18	-	7
21-22804492-C-A	c.1545C>A	p.S515=	Synonymous	12/18	-	4
21-22804492-C-G	c.1545C>G	p.S515=	Synonymous	12/18	-	4
21-22804492-C-T	c.1545C>T	p.S515=	Synonymous	12/18	-	4
21-22804493-T-C	c.1546T>C	p.F516L	Missense	12/18	-	1
21-22804495-C-A	c.1548C>A	p.F516L	Missense	12/18	-	2
21-22804495-C-G	c.1548C>G	p.F516L	Missense	12/18	-	1
21-22804495-C-T	c.1548C>T	p.F516=	Synonymous	12/18	-	1
21-22804498-C-A	c.1551C>A	p.N517K	Missense	12/18	-	1
21-22804498-C-G	c.1551C>G	p.N517K	Missense	12/18	-	1
21-22804502-C-T	c.1555C>T	p.P519S	Missense	12/18	-	4
21-22804503-C-T	c.1556C>T	p.P519L	Missense	12/18	-	1
21-22804504-G-A	c.1557G>A	p.P519=	Synonymous	12/18	-	4
21-22804504-G-C	c.1557G>C	p.P519=	Synonymous	12/18	-	3
21-22804504-G-T	c.1557G>T	p.P519=	Synonymous	12/18	-	3
21-22804505-G-T	c.1558G>T	p.D520Y	Missense	12/18	-	1
21-22804509-C-A	c.1562C>A	p.S521Y	Missense	12/18	-	1
21-22804509-C-T	c.1562C>T	p.S521F	Missense	12/18	-	2
21-22804511-C-A	c.1564C>A	p.H522N	Missense	12/18	-	2
21-22804513-T-A	c.1566T>A	p.H522Q	Missense	12/18	-	1
21-22804513-T-G	c.1566T>G	p.H522Q	Missense	12/18	-	1
21-22804514-G-A	c.1567G>A	p.G523R	Missense	12/18	-	1
21-22804514-G-C	c.1567G>C	p.G523R	Missense	12/18	-	1
21-22804514-G-T	c.1567G>T	p.G523*	Nonsense	12/18	-	1
21-22804515-G-A	c.1568G>A	p.G523E	Missense	12/18	-	1
21-22804517-G-A	c.1570G>A	p.G524S	Missense	12/18	-	1
21-22804518-G-T	c.1571G>T	p.G524V	Missense	12/18	-	1
21-22804521-T-C	c.1574T>C	p.V525A	Missense	12/18	-	1
21-22804523-C-A	c.1576C>A	p.P526T	Missense	12/18	-	2
21-22804524-C-A	c.1577C>A	p.P526H	Missense	12/18	-	1
21-22804526-A-G	c.1579A>G	p.I527V	Missense	12/18	-	1
21-22804529-C-T	c.1582C>T	p.H528Y	Missense	12/18	-	3
21-22804531-T-A	c.1584T>A	p.H528Q	Missense	12/18	-	1
21-22804532-C-A	c.1585C>A	p.H529N	Missense	12/18	-	1
21-22804534-C-G	c.1587C>G	p.H529Q	Missense	12/18	-	1
21-22804536-A-C	c.1589A>C	p.Y530S	Missense	12/18	-	1
21-22804538-C-T	c.1591C>T	p.Q531*	Nonsense	12/18	-	1
21-22804540-G-T	c.1593G>T	p.Q531H	Missense	12/18	-	5
21-22804541-G-A	c.1594G>A	p.V532M	Missense	12/18	-	3
21-22804541-G-C	c.1594G>C	p.V532L	Missense	12/18	-	3
21-22804541-G-T	c.1594G>T	p.V532L	Missense	12/18	-	5
21-22804544-G-A	c.1597G>A	p.D533N	Missense	12/18	-	2
21-22804553-G-A	c.1606G>A	p.E536K	Missense	12/18	-	1
21-22804553-G-T	c.1606G>T	p.E536*	Nonsense	12/18	-	4
21-22804555-A-C	c.1608A>C	p.E536D	Missense	12/18	-	3
21-22804556-G-A	c.1609G>A	p.V537I	Missense	12/18	-	1
21-22804557-T-G	c.1610T>G	p.V537G	Missense	12/18	-	2
21-22804559-G-T	c.1612G>T	p.A538S	Missense	12/18	-	1
21-22804560-C-A	c.1613C>A	p.A538E	Missense	12/18	-	3
21-22804560-C-T	c.1613C>T	p.A538V	Missense	12/18	-	2
21-22804561-G-A	c.1614G>A	p.A538=	Synonymous	12/18	-	5
21-22804561-G-C	c.1614G>C	p.A538=	Synonymous	12/18	-	4
21-22804561-G-T	c.1614G>T	p.A538=	Synonymous	12/18	-	4
21-22804562-T-G	c.1615T>G	p.S539A	Missense	12/18	-	1
21-22804563-C-A	c.1616C>A	p.S539*	Nonsense	12/18	-	1
21-22804564-A-C	c.1617A>C	p.S539=	Synonymous	12/18	-	1
21-22804564-A-G	c.1617A>G	p.S539=	Synonymous	12/18	-	1
21-22804564-A-T	c.1617A>T	p.S539=	Synonymous	12/18	-	1
21-22804565-G-T	c.1618G>T	p.E540*	Nonsense	12/18	-	1
21-22804570-C-A	c.1623C>A	p.I541=	Synonymous	12/18	-	1
21-22804570-C-G	c.1623C>G	p.I541M	Missense	12/18	-	1
21-22804571-T-G	c.1624T>G	p.W542G	Missense	12/18	-	4
21-22804572-G-A	c.1625G>A	p.W542*	Nonsense	12/18	-	1
21-22804573-G-A	c.1626G>A	p.W542*	Nonsense	12/18	-	1
21-22804576-A-C	c.1629A>C	p.K543N	Missense	12/18	-	2
21-22804580-GTA-ATG	c.1633_1635delinsATG	p.V545M	Missense	12/18	-	1
21-22804583-C-T	c.1636C>T	p.R546C	Missense	12/18	-	1
21-22804584-G-A	c.1637G>A	p.R546H	Missense	12/18	-	3
21-22804584-GC-AA	c.1637_1638delinsAA	p.R546Q	Missense	12/18	-	1
21-22804584-G-T	c.1637G>T	p.R546L	Missense	12/18	-	6
21-22804588-C-A	c.1641C>A	p.S547=	Synonymous	12/18	-	1
21-22804588-C-G	c.1641C>G	p.S547=	Synonymous	12/18	-	1
21-22804588-C-T	c.1641C>T	p.S547=	Synonymous	12/18	-	1
21-22804589-C-A	c.1642C>A	p.H548N	Missense	12/18	-	7
21-22804590-A-T	c.1643A>T	p.H548L	Missense	12/18	-	2
21-22804595-G-A	c.1648G>A	p.V550I	Missense	12/18	-	1
21-22804596-T-G	c.1649T>G	p.V550G	Missense	12/18	-	1
21-22804600-A-C	c.1653A>C	p.Q551H	Missense	12/18	-	1
21-22804674-C-T	c.1654+73C>T	-	IntronicSNV	-	12/17	5
21-22807646-C-T	c.1654+3045C>T	-	IntronicSNV	-	12/17	1
21-22809089-C-A	c.1654+4488C>A	-	IntronicSNV	-	12/17	1
21-22809089-C-T	c.1654+4488C>T	-	IntronicSNV	-	12/17	1
21-22811084-T-G	c.1654+6483T>G	-	IntronicSNV	-	12/17	1
21-22814186-GGA-G	c.1654+9588_1654+9589del	-	IntronicDeletion	-	12/17	1
21-22815262-C-T	c.1654+10661C>T	-	IntronicSNV	-	12/17	1
21-22816851-A-G	c.1654+12250A>G	-	IntronicSNV	-	12/17	1
21-22817644-A-C	c.1654+13043A>C	-	IntronicSNV	-	12/17	1
21-22821685-G-A	c.1654+17084G>A	-	IntronicSNV	-	12/17	1
21-22827907-C-A	c.1655-11020C>A	-	IntronicSNV	-	12/17	1
21-22827907-C-T	c.1655-11020C>T	-	IntronicSNV	-	12/17	1
21-22829632-G-A	c.1655-9295G>A	-	IntronicSNV	-	12/17	1
21-22836013-A-C	c.1655-2914A>C	-	IntronicSNV	-	12/17	1
21-22836710-G-A	c.1655-2217G>A	-	IntronicSNV	-	12/17	1
21-22836710-G-T	c.1655-2217G>T	-	IntronicSNV	-	12/17	1
21-22836839-A-C	c.1655-2088A>C	-	IntronicSNV	-	12/17	1
21-22838927-CA-TG	c.1655_1656inv	p.T552M	Missense	13/18	-	1
21-22838932-G-T	c.1660G>T	p.V554F	Missense	13/18	-	1
21-22838935-G-A	c.1663G>A	p.V555I	Missense	13/18	-	1
21-22838935-G-T	c.1663G>T	p.V555F	Missense	13/18	-	2
21-22838938-T-G	c.1666T>G	p.L556V	Missense	13/18	-	1
21-22838940-G-C	c.1668G>C	p.L556F	Missense	13/18	-	1
21-22838940-G-T	c.1668G>T	p.L556F	Missense	13/18	-	1
21-22838946-C-A	c.1674C>A	p.N558K	Missense	13/18	-	1
21-22838946-C-G	c.1674C>G	p.N558K	Missense	13/18	-	1
21-22838948-T-G	c.1676T>G	p.L559R	Missense	13/18	-	1
21-22838953-C-T	c.1681C>T	p.P561S	Missense	13/18	-	1
21-22838958-T-C	c.1686T>C	p.N562=	Synonymous	13/18	-	1
21-22838960-C-A	c.1688C>A	p.T563K	Missense	13/18	-	1
21-22838962-A-G	c.1690A>G	p.T564A	Missense	13/18	-	1
21-22838964-T-A	c.1692T>A	p.T564=	Synonymous	13/18	-	1
21-22838964-T-C	c.1692T>C	p.T564=	Synonymous	13/18	-	1
21-22838964-T-G	c.1692T>G	p.T564=	Synonymous	13/18	-	1
21-22838967-T-C	c.1695T>C	p.Y565=	Synonymous	13/18	-	2
21-22838972-T-C	c.1700T>C	p.I567T	Missense	13/18	-	1
21-22838973-C-G	c.1701C>G	p.I567M	Missense	13/18	-	1
21-22838973-C-T	c.1701C>T	p.I567=	Synonymous	13/18	-	2
21-22838976-G-C	c.1704G>C	p.R568S	Missense	13/18	-	4
21-22838976-G-T	c.1704G>T	p.R568S	Missense	13/18	-	5
21-22838977-G-C	c.1705G>C	p.V569L	Missense	13/18	-	3
21-22838978-T-C	c.1706T>C	p.V569A	Missense	13/18	-	1
21-22838982-A-C	c.1710A>C	p.A570=	Synonymous	13/18	-	1
21-22838982-A-G	c.1710A>G	p.A570=	Synonymous	13/18	-	1
21-22838982-A-T	c.1710A>T	p.A570=	Synonymous	13/18	-	1
21-22838984-C-T	c.1712C>T	p.A571V	Missense	13/18	-	1
21-22838986-G-A	c.1714G>A	p.V572I	Missense	13/18	-	1
21-22838992-G-T	c.1720G>T	p.G574*	Nonsense	13/18	-	1
21-22838993-G-A	c.1721G>A	p.G574E	Missense	13/18	-	4
21-22838993-G-T	c.1721G>T	p.G574V	Missense	13/18	-	1
21-22838996-A-G	c.1724A>G	p.K575R	Missense	13/18	-	1
21-22838998-G-A	c.1726G>A	p.G576R	Missense	13/18	-	4
21-22839000-A-C	c.1728A>C	p.G576=	Synonymous	13/18	-	1
21-22839000-A-G	c.1728A>G	p.G576=	Synonymous	13/18	-	1
21-22839000-A-T	c.1728A>T	p.G576=	Synonymous	13/18	-	1
21-22839009-C-A	c.1737C>A	p.D579E	Missense	13/18	-	1
21-22839009-C-G	c.1737C>G	p.D579E	Missense	13/18	-	1
21-22839012-C-A	c.1740C>A	p.Y580*	Nonsense	13/18	-	1
21-22839013-A-G	c.1741A>G	p.S581G	Missense	13/18	-	1
21-22839013-A-T	c.1741A>T	p.S581C	Missense	13/18	-	1
21-22839014-G-A	c.1742G>A	p.S581N	Missense	13/18	-	2
21-22839019-A-G	c.1747A>G	p.I583V	Missense	13/18	-	1
21-22839020-T-G	c.1748T>G	p.I583R	Missense	13/18	-	1
21-22839021-A-C	c.1749A>C	p.I583=	Synonymous	13/18	-	1
21-22839021-A-T	c.1749A>T	p.I583=	Synonymous	13/18	-	1
21-22839022-G-A	c.1750G>A	p.E584K	Missense	13/18	-	2
21-22839026-T-C	c.1754T>C	p.I585T	Missense	13/18	-	1
21-22839027-C-A	c.1755C>A	p.I585=	Synonymous	13/18	-	2
21-22839027-C-T	c.1755C>T	p.I585=	Synonymous	13/18	-	2
21-22839030-C-T	c.1758C>T	p.F586=	Synonymous	13/18	-	1
21-22839032-A-G	c.1760A>G	p.Q587R	Missense	13/18	-	1
21-22839033-A-C	c.1761A>C	p.Q587H	Missense	13/18	-	1
21-22839033-A-T	c.1761A>T	p.Q587H	Missense	13/18	-	1
21-22839034-A-G	c.1762A>G	p.T588A	Missense	13/18	-	3
21-22839035-CA-TG	c.1763_1764inv	p.T588M	Missense	13/18	-	2
21-22839038-T-A	c.1766T>A	p.L589*	Nonsense	13/18	-	1
21-22839038-T-C	c.1766T>C	p.L589S	Missense	13/18	-	2
21-22839038-T-G	c.1766T>G	p.L589*	Nonsense	13/18	-	1
21-22839046-C-T	c.1774C>T	p.R592C	Missense	13/18	-	3
21-22839047-G-T	c.1774+1G>T	-	IntronicSNV	-	13/17	2
21-22839194-G-C	c.1774+148G>C	-	IntronicSNV	-	13/17	1
21-22839703-TTA-T	c.1774+673_1774+674del	-	IntronicDeletion	-	13/17	1
21-22839720-T-A	c.1774+674T>A	-	IntronicSNV	-	13/17	1
21-22839766-T-C	c.1774+720T>C	-	IntronicSNV	-	13/17	1
21-22840003-CA-C	c.1774+963del	-	IntronicDeletion	-	13/17	1
21-22840817-G-A	c.1775-166G>A	-	IntronicSNV	-	13/17	1
21-22840930-A-C	c.1775-53A>C	-	IntronicSNV	-	13/17	3
21-22840930-A-T	c.1775-53A>T	-	IntronicSNV	-	13/17	3
21-22840983-GT-AA	c.1775_1776delinsAA	p.R592Q	Missense	14/18	-	1
21-22840988-C-T	c.1780C>T	p.P594S	Missense	14/18	-	1
21-22840992-G-A	c.1784G>A	p.S595N	Missense	14/18	-	1
21-22840993-TC-T	c.1787del	p.P596Lfs*33	Frameshift	14/18	-	1
21-22840995-C-T	c.1787C>T	p.P596L	Missense	14/18	-	1
21-22840998-C-A	c.1790C>A	p.P597Q	Missense	14/18	-	1
21-22840998-C-G	c.1790C>G	p.P597R	Missense	14/18	-	1
21-22840998-C-T	c.1790C>T	p.P597L	Missense	14/18	-	2
21-22841001-C-A	c.1793C>A	p.S598Y	Missense	14/18	-	1
21-22841002-C-T	c.1794C>T	p.S598=	Synonymous	14/18	-	3
21-22841009-G-A	c.1801G>A	p.G601R	Missense	14/18	-	1
21-22841009-G-C	c.1801G>C	p.G601R	Missense	14/18	-	2
21-22841009-G-T	c.1801G>T	p.G601*	Nonsense	14/18	-	1
21-22841014-G-A	c.1806G>A	p.Q602=	Synonymous	14/18	-	1
21-22841014-G-T	c.1806G>T	p.Q602H	Missense	14/18	-	2
21-22841015-C-T	c.1807C>T	p.P603S	Missense	14/18	-	4
21-22841022-G-C	c.1814G>C	p.S605T	Missense	14/18	-	1
21-22841022-G-T	c.1814G>T	p.S605I	Missense	14/18	-	1
21-22841021-A-C	c.1813A>C	p.S605R	Missense	14/18	-	1
21-22841023-T-A	c.1815T>A	p.S605R	Missense	14/18	-	1
21-22841023-T-G	c.1815T>G	p.S605R	Missense	14/18	-	1
21-22841024-G-A	c.1816G>A	p.G606R	Missense	14/18	-	1
21-22841024-G-T	c.1816G>T	p.G606*	Nonsense	14/18	-	1
21-22841025-G-A	c.1817G>A	p.G606E	Missense	14/18	-	1
21-22841025-G-C	c.1817G>C	p.G606A	Missense	14/18	-	1
21-22841025-G-T	c.1817G>T	p.G606V	Missense	14/18	-	1
21-22841029-G-A	c.1821G>A	p.K607=	Synonymous	14/18	-	1
21-22841029-G-C	c.1821G>C	p.K607N	Missense	14/18	-	1
21-22841029-G-T	c.1821G>T	p.K607N	Missense	14/18	-	1
21-22841030-A-G	c.1822A>G	p.S608G	Missense	14/18	-	1
21-22841030-A-T	c.1822A>T	p.S608C	Missense	14/18	-	1
21-22841031-G-A	c.1823G>A	p.S608N	Missense	14/18	-	2
21-22841031-G-C	c.1823G>C	p.S608T	Missense	14/18	-	1
21-22841030-A-C	c.1822A>C	p.S608R	Missense	14/18	-	1
21-22841032-C-A	c.1824C>A	p.S608R	Missense	14/18	-	1
21-22841032-C-G	c.1824C>G	p.S608R	Missense	14/18	-	1
21-22841040-TC-AA	c.1832_1833delinsAA	p.L611Q	Missense	14/18	-	1
21-22841043-G-A	c.1835G>A	p.S612N	Missense	14/18	-	1
21-22841045-A-G	c.1837A>G	p.I613V	Missense	14/18	-	1
21-22841047-C-T	c.1839C>T	p.I613=	Synonymous	14/18	-	2
21-22841048-A-T	c.1840A>T	p.T614S	Missense	14/18	-	2
21-22841049-C-G	c.1841C>G	p.T614S	Missense	14/18	-	1
21-22841052-A-C	c.1844A>C	p.K615T	Missense	14/18	-	1
21-22841054-C-A	c.1846C>A	p.Q616K	Missense	14/18	-	7
21-22841055-A-G	c.1847A>G	p.Q616R	Missense	14/18	-	1
21-22841056-G-T	c.1848G>T	p.Q616H	Missense	14/18	-	1
21-22841058-A-T	c.1850A>T	p.D617V	Missense	14/18	-	1
21-22841059-C-A	c.1851C>A	p.D617E	Missense	14/18	-	3
21-22841059-C-G	c.1851C>G	p.D617E	Missense	14/18	-	2
21-22841060-G-A	c.1852G>A	p.D618N	Missense	14/18	-	3
21-22841060-G-T	c.1852G>T	p.D618Y	Missense	14/18	-	1
21-22841063-G-A	c.1855G>A	p.G619R	Missense	14/18	-	2
21-22841063-G-C	c.1855G>C	p.G619R	Missense	14/18	-	1
21-22841064-G-A	c.1856G>A	p.G619E	Missense	14/18	-	4
21-22841067-G-T	c.1859G>T	p.G620V	Missense	14/18	-	2
21-22841070-C-A	c.1862C>A	p.A621D	Missense	14/18	-	1
21-22841070-C-T	c.1862C>T	p.A621V	Missense	14/18	-	1
21-22841071-C-T	c.1863C>T	p.A621=	Synonymous	14/18	-	1
21-22841072-C-A	c.1864C>A	p.P622T	Missense	14/18	-	1
21-22841074-T-C	c.1866T>C	p.P622=	Synonymous	14/18	-	1
21-22841078-T-C	c.1870T>C	p.L624=	Synonymous	14/18	-	1
21-22841080-G-A	c.1872G>A	p.L624=	Synonymous	14/18	-	2
21-22841081-G-A	c.1873G>A	p.E625K	Missense	14/18	-	2
21-22841082-A-C	c.1874A>C	p.E625A	Missense	14/18	-	1
21-22841086-C-A	c.1878C>A	p.Y626*	Nonsense	14/18	-	1
21-22841088-T-C	c.1880T>C	p.I627T	Missense	14/18	-	2
21-22841089-T-G	c.1881T>G	p.I627M	Missense	14/18	-	1
21-22841092-G-A	c.1884G>A	p.V628=	Synonymous	14/18	-	1
21-22841093-A-G	c.1885A>G	p.K629E	Missense	14/18	-	1
21-22841094-A-G	c.1886A>G	p.K629R	Missense	14/18	-	1
21-22841097-A-G	c.1889A>G	p.Y630C	Missense	14/18	-	3
21-22841100-G-A	c.1892G>A	p.R631K	Missense	14/18	-	3
21-22841102-A-C	c.1894A>C	p.S632R	Missense	14/18	-	1
21-22841104-T-A	c.1896T>A	p.S632R	Missense	14/18	-	1
21-22841104-T-G	c.1896T>G	p.S632R	Missense	14/18	-	1
21-22841123-G-A	c.1896+19G>A	-	IntronicSNV	-	14/17	1
21-22841261-T-A	c.1896+157T>A	-	IntronicSNV	-	14/17	1
21-22841261-T-C	c.1896+157T>C	-	IntronicSNV	-	14/17	1
21-22841261-T-G	c.1896+157T>G	-	IntronicSNV	-	14/17	1
21-22841283-C-G	c.1896+179C>G	-	IntronicSNV	-	14/17	1
21-22842175-G-A	c.1896+1071G>A	-	IntronicSNV	-	14/17	1
21-22845362-G-A	c.1897-4250G>A	-	IntronicSNV	-	14/17	1
21-22845633-A-AT	c.1897-3979_1897-3978insT	-	IntronicInsertion	-	14/17	1
21-22845694-A-AATAAAT	c.1897-3915_1897-3914insAATATA	-	IntronicInsertion	-	14/17	1
21-22845694-A-AATAAATAT	c.1897-3915_1897-3914insAATATATA	-	IntronicInsertion	-	14/17	1
21-22849608-A-G	c.1897-4A>G	-	IntronicSNV	-	14/17	1
21-22849615-G-A	c.1900G>A	p.D634N	Missense	15/18	-	3
21-22849615-G-T	c.1900G>T	p.D634Y	Missense	15/18	-	2
21-22849619-A-T	c.1904A>T	p.K635M	Missense	15/18	-	1
21-22849621-G-A	c.1906G>A	p.E636K	Missense	15/18	-	2
21-22849621-G-T	c.1906G>T	p.E636*	Nonsense	15/18	-	3
21-22849623-A-C	c.1908A>C	p.E636D	Missense	15/18	-	1
21-22849623-A-T	c.1908A>T	p.E636D	Missense	15/18	-	1
21-22849628-A-G	c.1913A>G	p.Q638R	Missense	15/18	-	2
21-22849629-A-G	c.1914A>G	p.Q638=	Synonymous	15/18	-	1
21-22849630-T-C	c.1915T>C	p.W639R	Missense	15/18	-	1
21-22849632-G-A	c.1917G>A	p.W639*	Nonsense	15/18	-	1
21-22849633-C-G	c.1918C>G	p.L640V	Missense	15/18	-	2
21-22849638-G-A	c.1923G>A	p.E641=	Synonymous	15/18	-	2
21-22849643-A-C	c.1928A>C	p.K643T	Missense	15/18	-	4
21-22849643-A-G	c.1928A>G	p.K643R	Missense	15/18	-	2
21-22849638-GA-G	c.1929del	p.V644Cfs*61	Frameshift	15/18	-	1
21-22849638-G-GA	c.1929dup	p.V644Sfs*5	Frameshift	15/18	-	1
21-22849652-G-A	c.1937G>A	p.G646E	Missense	15/18	-	1
21-22849662-C-A	c.1947C>A	p.D649E	Missense	15/18	-	3
21-22849667-T-C	c.1952T>C	p.I651T	Missense	15/18	-	2
21-22849669-A-G	c.1954A>G	p.I652V	Missense	15/18	-	1
21-22849673-T-A	c.1958T>A	p.L653*	Nonsense	15/18	-	1
21-22849673-T-C	c.1958T>C	p.L653S	Missense	15/18	-	1
21-22849674-G-C	c.1959G>C	p.L653F	Missense	15/18	-	2
21-22849674-G-T	c.1959G>T	p.L653F	Missense	15/18	-	2
21-22849675-G-C	c.1960G>C	p.E654Q	Missense	15/18	-	1
21-22849675-G-T	c.1960G>T	p.E654*	Nonsense	15/18	-	4
21-22849695-G-A	c.1980G>A	p.M660I	Missense	15/18	-	1
21-22849695-G-C	c.1980G>C	p.M660I	Missense	15/18	-	1
21-22849695-G-T	c.1980G>T	p.M660I	Missense	15/18	-	1
21-22849696-G-A	c.1981G>A	p.G661R	Missense	15/18	-	1
21-22849696-G-C	c.1981G>C	p.G661R	Missense	15/18	-	1
21-22849696-G-T	c.1981G>T	p.G661W	Missense	15/18	-	3
21-22849697-G-A	c.1982G>A	p.G661E	Missense	15/18	-	1
21-22849700-A-G	c.1985A>G	p.Y662C	Missense	15/18	-	3
21-22849702-G-A	c.1987G>A	p.E663K	Missense	15/18	-	1
21-22849702-GAA-CAT	c.1987_1989delinsCAT	p.E663H	Missense	15/18	-	1
21-22849704-A-G	c.1989A>G	p.E663=	Synonymous	15/18	-	2
21-22849705-G-C	c.1990G>C	p.V664L	Missense	15/18	-	1
21-22849707-T-A	c.1992T>A	p.V664=	Synonymous	15/18	-	2
21-22849708-C-G	c.1993C>G	p.Q665E	Missense	15/18	-	1
21-22849710-G-C	c.1995G>C	p.Q665H	Missense	15/18	-	1
21-22849710-G-T	c.1995G>T	p.Q665H	Missense	15/18	-	1
21-22849720-G-T	c.2005G>T	p.A669S	Missense	15/18	-	1
21-22849722-C-T	c.2007C>T	p.A669=	Synonymous	15/18	-	1
21-22849722-CA-C	c.2009del	p.N670Ifs*35	Frameshift	15/18	-	2
21-22849726-A-T	c.2011A>T	p.R671*	Nonsense	15/18	-	1
21-22849727-G-A	c.2012G>A	p.R671K	Missense	15/18	-	1
21-22849729-T-A	c.2014T>A	p.L672M	Missense	15/18	-	1
21-22849731-G-C	c.2016G>C	p.L672F	Missense	15/18	-	1
21-22849731-G-T	c.2016G>T	p.L672F	Missense	15/18	-	1
21-22849732-G-A	c.2017G>A	p.G673R	Missense	15/18	-	1
21-22849732-G-C	c.2017G>C	p.G673R	Missense	15/18	-	1
21-22849733-G-A	c.2018G>A	p.G673E	Missense	15/18	-	1
21-22849736-A-G	c.2021A>G	p.Y674C	Missense	15/18	-	3
21-22849741-G-A	c.2026G>A	p.E676K	Missense	15/18	-	2
21-22849741-G-C	c.2026G>C	p.E676Q	Missense	15/18	-	2
21-22849741-G-T	c.2026G>T	p.E676*	Nonsense	15/18	-	1
21-22849742-A-G	c.2027A>G	p.E676G	Missense	15/18	-	1
21-22849743-A-G	c.2028A>G	p.E676=	Synonymous	15/18	-	3
21-22849745-C-T	c.2030C>T	p.P677L	Missense	15/18	-	6
21-22849746-G-A	c.2031G>A	p.P677=	Synonymous	15/18	-	2
21-22849746-G-C	c.2031G>C	p.P677=	Synonymous	15/18	-	1
21-22849746-G-T	c.2031G>T	p.P677=	Synonymous	15/18	-	1
21-22849747-A-T	c.2032A>T	p.T678S	Missense	15/18	-	1
21-22849748-C-G	c.2033C>G	p.T678R	Missense	15/18	-	3
21-22849749-A-C	c.2034A>C	p.T678=	Synonymous	15/18	-	1
21-22849749-A-G	c.2034A>G	p.T678=	Synonymous	15/18	-	1
21-22849749-A-T	c.2034A>T	p.T678=	Synonymous	15/18	-	1
21-22849750-G-C	c.2035G>C	p.V679L	Missense	15/18	-	1
21-22849751-T-G	c.2036T>G	p.V679G	Missense	15/18	-	2
21-22849754-A-G	c.2039A>G	p.Y680C	Missense	15/18	-	1
21-22849764-C-T	c.2049C>T	p.S683=	Synonymous	15/18	-	1
21-22849769-C-A	c.2054C>A	p.P685Q	Missense	15/18	-	1
21-22849769-C-T	c.2054C>T	p.P685L	Missense	15/18	-	1
21-22849774-A-C	c.2059A>C	p.K687Q	Missense	15/18	-	1
21-22849782-C-A	c.2067C>A	p.N689K	Missense	15/18	-	1
21-22849786-A-G	c.2071A>G	p.I691V	Missense	15/18	-	5
21-22849789-A-G	c.2074A>G	p.K692E	Missense	15/18	-	1
21-22849792-G-C	c.2077G>C	p.D693H	Missense	15/18	-	1
21-22849794-T-C	c.2077+2T>C	-	IntronicSNV	-	15/17	1
21-22850485-T-A	c.2077+693T>A	-	IntronicSNV	-	15/17	1
21-22854153-A-G	c.2077+4361A>G	-	IntronicSNV	-	15/17	1
21-22854632-G-GA	c.2077+4846dup	-	IntronicInsertion	-	15/17	1
21-22855400-C-A	c.2077+5608C>A	-	IntronicSNV	-	15/17	1
21-22856357-A-G	c.2077+6565A>G	-	IntronicSNV	-	15/17	1
21-22856459-A-G	c.2077+6667A>G	-	IntronicSNV	-	15/17	1
21-22856505-C-A	c.2077+6713C>A	-	IntronicSNV	-	15/17	1
21-22857652-C-T	c.2077+7860C>T	-	IntronicSNV	-	15/17	1
21-22857725-T-C	c.2077+7933T>C	-	IntronicSNV	-	15/17	1
21-22857725-T-G	c.2077+7933T>G	-	IntronicSNV	-	15/17	1
21-22858278-T-A	c.2077+8486T>A	-	IntronicSNV	-	15/17	1
21-22858482-G-A	c.2077+8690G>A	-	IntronicSNV	-	15/17	1
21-22859250-A-T	c.2077+9458A>T	-	IntronicSNV	-	15/17	1
21-22859325-A-C	c.2077+9533A>C	-	IntronicSNV	-	15/17	1
21-22859325-A-G	c.2077+9533A>G	-	IntronicSNV	-	15/17	1
21-22859922-C-T	c.2077+10130C>T	-	IntronicSNV	-	15/17	1
21-22861778-C-T	c.2077+11986C>T	-	IntronicSNV	-	15/17	1
21-22862759-C-T	c.2077+12967C>T	-	IntronicSNV	-	15/17	1
21-22875620-T-G	c.2078-5552T>G	-	IntronicSNV	-	15/17	1
21-22881162-A-C	c.2078-10A>C	-	IntronicSNV	-	15/17	1
21-22881162-A-T	c.2078-10A>T	-	IntronicSNV	-	15/17	1
21-22881163-C-T	c.2078-9C>T	-	IntronicSNV	-	15/17	1
21-22881172-A-C	c.2078A>C	p.D693A	Missense	16/18	-	2
21-22881173-C-A	c.2079C>A	p.D693E	Missense	16/18	-	1
21-22881175-C-A	c.2081C>A	p.T694K	Missense	16/18	-	1
21-22881175-C-T	c.2081C>T	p.T694M	Missense	16/18	-	7
21-22881184-A-T	c.2090A>T	p.N697I	Missense	16/18	-	1
21-22881185-T-A	c.2091T>A	p.N697K	Missense	16/18	-	1
21-22881186-G-A	c.2092G>A	p.G698S	Missense	16/18	-	2
21-22881186-G-T	c.2092G>T	p.G698C	Missense	16/18	-	6
21-22881188-T-A	c.2094T>A	p.G698=	Synonymous	16/18	-	2
21-22881188-T-C	c.2094T>C	p.G698=	Synonymous	16/18	-	1
21-22881188-T-G	c.2094T>G	p.G698=	Synonymous	16/18	-	1
21-22881189-C-A	c.2095C>A	p.L699I	Missense	16/18	-	1
21-22881189-C-T	c.2095C>T	p.L699F	Missense	16/18	-	1
21-22881192-G-A	c.2098G>A	p.G700R	Missense	16/18	-	1
21-22881192-G-T	c.2098G>T	p.G700W	Missense	16/18	-	1
21-22881196-T-G	c.2102T>G	p.L701R	Missense	16/18	-	1
21-22881198-G-A	c.2104G>A	p.G702R	Missense	16/18	-	1
21-22881198-G-C	c.2104G>C	p.G702R	Missense	16/18	-	1
21-22881204-AGTAAT-A	c.2110_2114del	p.V704Wfs*32	Frameshift	16/18	-	1
21-22881205-T-C	c.2111T>C	p.V704A	Missense	16/18	-	1
21-22881207-A-G	c.2113A>G	p.I705V	Missense	16/18	-	1
21-22881210-G-T	c.2116G>T	p.G706C	Missense	16/18	-	1
21-22881211-G-A	c.2117G>A	p.G706D	Missense	16/18	-	1
21-22881214-T-C	c.2120T>C	p.L707P	Missense	16/18	-	1
21-22881216-G-A	c.2122G>A	p.G708R	Missense	16/18	-	4
21-22881217-G-T	c.2123G>T	p.G708V	Missense	16/18	-	1
21-22881222-G-A	c.2128G>A	p.A710T	Missense	16/18	-	1
21-22881222-G-C	c.2128G>C	p.A710P	Missense	16/18	-	1
21-22881225-G-A	c.2131G>A	p.A711T	Missense	16/18	-	1
21-22881226-C-T	c.2132C>T	p.A711V	Missense	16/18	-	1
21-22881231-C-T	c.2137C>T	p.L713=	Synonymous	16/18	-	1
21-22881233-G-A	c.2139G>A	p.L713=	Synonymous	16/18	-	2
21-22881233-G-C	c.2139G>C	p.L713=	Synonymous	16/18	-	1
21-22881233-G-T	c.2139G>T	p.L713=	Synonymous	16/18	-	2
21-22881234-C-A	c.2140C>A	p.L714I	Missense	16/18	-	1
21-22881238-T-C	c.2144T>C	p.I715T	Missense	16/18	-	1
21-22881240-C-T	c.2146C>T	p.L716F	Missense	16/18	-	1
21-22881243-G-C	c.2149G>C	p.V717L	Missense	16/18	-	4
21-22881243-G-T	c.2149G>T	p.V717L	Missense	16/18	-	3
21-22881251-A-C	c.2157A>C	p.T719=	Synonymous	16/18	-	1
21-22881251-A-G	c.2157A>G	p.T719=	Synonymous	16/18	-	8
21-22881251-A-T	c.2157A>T	p.T719=	Synonymous	16/18	-	1
21-22881252-G-A	c.2158G>A	p.D720N	Missense	16/18	-	1
21-22881253-A-C	c.2159A>C	p.D720A	Missense	16/18	-	1
21-22881254-C-T	c.2160C>T	p.D720=	Synonymous	16/18	-	3
21-22881255-G-A	c.2161G>A	p.V721I	Missense	16/18	-	2
21-22881257-C-A	c.2163C>A	p.V721=	Synonymous	16/18	-	1
21-22881257-C-T	c.2163C>T	p.V721=	Synonymous	16/18	-	1
21-22881261-T-G	c.2167T>G	p.C723G	Missense	16/18	-	1
21-22881263-C-T	c.2169C>T	p.C723=	Synonymous	16/18	-	1
21-22881264-T-C	c.2170T>C	p.F724L	Missense	16/18	-	1
21-22881266-C-A	c.2172C>A	p.F724L	Missense	16/18	-	1
21-22881266-C-G	c.2172C>G	p.F724L	Missense	16/18	-	1
21-22881265-TC-AA	c.2171_2172delinsAA	p.F724*	Missense	16/18	-	1
21-22881266-C-T	c.2172C>T	p.F724=	Synonymous	16/18	-	4
21-22881268-T-G	c.2174T>G	p.F725C	Missense	16/18	-	1
21-22881273-C-T	c.2179C>T	p.R727W	Missense	16/18	-	6
21-22881275-G-T	c.2181G>T	p.R727=	Synonymous	16/18	-	3
21-22881276-C-A	c.2182C>A	p.Q728K	Missense	16/18	-	3
21-22881276-C-T	c.2182C>T	p.Q728*	Nonsense	16/18	-	1
21-22881279-T-C	c.2185T>C	p.C729R	Missense	16/18	-	1
21-22881279-T-TA	c.2185_2186insA	p.C729*	Nonsense	16/18	-	1
21-22881282-G-T	c.2188G>T	p.G730W	Missense	16/18	-	1
21-22881283-G-A	c.2189G>A	p.G730E	Missense	16/18	-	1
21-22881283-G-T	c.2189G>T	p.G730V	Missense	16/18	-	1
21-22881285-T-C	c.2191T>C	p.L731=	Synonymous	16/18	-	1
21-22881287-G-A	c.2193G>A	p.L731=	Synonymous	16/18	-	1
21-22881288-C-T	c.2194C>T	p.L732=	Synonymous	16/18	-	1
21-22881290-G-A	c.2196G>A	p.L732=	Synonymous	16/18	-	4
21-22881290-G-T	c.2196G>T	p.L732=	Synonymous	16/18	-	1
21-22881296-C-T	c.2202C>T	p.C734=	Synonymous	16/18	-	1
21-22881297-A-T	c.2203A>T	p.I735F	Missense	16/18	-	2
21-22881300-A-C	c.2206A>C	p.T736P	Missense	16/18	-	2
21-22881304-G-T	c.2210G>T	p.R737M	Missense	16/18	-	1
21-22881305-G-C	c.2211G>C	p.R737S	Missense	16/18	-	1
21-22881306-AGA-TGG	c.2212_2214delinsTGG	p.R738W	Missense	16/18	-	2
21-22881311-G-T	c.2217G>T	p.M739I	Missense	16/18	-	1
21-22881315-GG-AA	c.2221_2222delinsAA	p.G741K	Missense	16/18	-	1
21-22881315-G-T	c.2221G>T	p.G741*	Nonsense	16/18	-	1
21-22881319-A-C	c.2225A>C	p.K742T	Missense	16/18	-	2
21-22881320-AG-A	c.2226del	p.S744Vfs*18	Frameshift	16/18	-	1
21-22881320-G-C	c.2226G>C	p.K742N	Missense	16/18	-	1
21-22881320-G-T	c.2226G>T	p.K742N	Missense	16/18	-	1
21-22881322-AA-TG	c.2228_2229delinsTG	p.K743M	Missense	16/18	-	1
21-22881322-A-T	c.2228A>T	p.K743I	Missense	16/18	-	1
21-22881324-A-T	c.2230A>T	p.S744C	Missense	16/18	-	1
21-22881328-G-A	c.2234G>A	p.G745D	Missense	16/18	-	3
21-22881329-C-T	c.2235C>T	p.G745=	Synonymous	16/18	-	1
21-22881334-G-C	c.2240G>C	p.S747T	Missense	16/18	-	1
21-22881337-G-A	c.2243G>A	p.G748D	Missense	16/18	-	1
21-22881343-G-A	c.2249G>A	p.S750N	Missense	16/18	-	1
21-22881348-G-T	c.2254G>T	p.E752*	Nonsense	16/18	-	3
21-22881352-T-A	c.2258T>A	p.L753H	Missense	16/18	-	3
21-22881353-C-A	c.2259C>A	p.L753=	Synonymous	16/18	-	1
21-22881353-C-G	c.2259C>G	p.L753=	Synonymous	16/18	-	1
21-22881353-C-T	c.2259C>T	p.L753=	Synonymous	16/18	-	2
21-22881354-G-A	c.2260G>A	p.E754K	Missense	16/18	-	7
21-22881354-G-C	c.2260G>C	p.E754Q	Missense	16/18	-	1
21-22881360-G-A	c.2266G>A	p.G756R	Missense	16/18	-	1
21-22881360-G-C	c.2266G>C	p.G756R	Missense	16/18	-	1
21-22881360-G-T	c.2266G>T	p.G756*	Nonsense	16/18	-	1
21-22881361-G-A	c.2267G>A	p.G756E	Missense	16/18	-	1
21-22881365-A-G	c.2271A>G	p.K757=	Synonymous	16/18	-	1
21-22881366-G-T	c.2272G>T	p.A758S	Missense	16/18	-	1
21-22881367-C-A	c.2273C>A	p.A758D	Missense	16/18	-	1
21-22881367-C-T	c.2273C>T	p.A758V	Missense	16/18	-	2
21-22881368-T-A	c.2274T>A	p.A758=	Synonymous	16/18	-	3
21-22881368-T-C	c.2274T>C	p.A758=	Synonymous	16/18	-	1
21-22881368-T-G	c.2274T>G	p.A758=	Synonymous	16/18	-	4
21-22881369-G-A	c.2275G>A	p.A759T	Missense	16/18	-	1
21-22881370-C-A	c.2276C>A	p.A759E	Missense	16/18	-	1
21-22881375-C-A	c.2281C>A	p.L761M	Missense	16/18	-	1
21-22881471-G-T	c.2282+95G>T	-	IntronicSNV	-	16/17	1
21-22882926-G-A	c.2282+1550G>A	-	IntronicSNV	-	16/17	1
21-22889640-A-T	c.2282+8264A>T	-	IntronicSNV	-	16/17	1
21-22890498-AT-A	c.2282+9130del	-	IntronicDeletion	-	16/17	1
21-22892128-C-T	c.2282+10752C>T	-	IntronicSNV	-	16/17	1
21-22895179-C-T	c.2283-11679C>T	-	IntronicSNV	-	16/17	1
21-22902621-A-G	c.2283-4237A>G	-	IntronicSNV	-	16/17	1
21-22902621-A-T	c.2283-4237A>T	-	IntronicSNV	-	16/17	1
21-22902626-A-T	c.2283-4232A>T	-	IntronicSNV	-	16/17	1
21-22904340-T-C	c.2283-2518T>C	-	IntronicSNV	-	16/17	1
21-22906858-G-A	c.2283G>A	p.L761=	Synonymous	17/18	-	2
21-22906859-A-T	c.2284A>T	p.K762*	Nonsense	17/18	-	1
21-22906861-A-G	c.2286A>G	p.K762=	Synonymous	17/18	-	1
21-22906861-A-T	c.2286A>T	p.K762N	Missense	17/18	-	1
21-22906863-A-G	c.2288A>G	p.D763G	Missense	17/18	-	1
21-22906864-T-A	c.2289T>A	p.D763E	Missense	17/18	-	1
21-22906865-G-A	c.2290G>A	p.G764R	Missense	17/18	-	1
21-22906865-G-C	c.2290G>C	p.G764R	Missense	17/18	-	1
21-22906865-G-T	c.2290G>T	p.G764*	Nonsense	17/18	-	2
21-22906866-G-T	c.2291G>T	p.G764V	Missense	17/18	-	4
21-22906869-C-A	c.2294C>A	p.S765*	Nonsense	17/18	-	6
21-22906869-C-G	c.2294C>G	p.S765*	Nonsense	17/18	-	4
21-22906873-A-T	c.2298A>T	p.K766N	Missense	17/18	-	1
21-22906874-G-T	c.2299G>T	p.E767*	Nonsense	17/18	-	2
21-22906877-C-T	c.2302C>T	p.P768S	Missense	17/18	-	1
21-22906878-C-T	c.2303C>T	p.P768L	Missense	17/18	-	2
21-22906885-G-A	c.2310G>A	p.V770=	Synonymous	17/18	-	1
21-22906885-G-C	c.2310G>C	p.V770=	Synonymous	17/18	-	1
21-22906885-G-T	c.2310G>T	p.V770=	Synonymous	17/18	-	2
21-22906886-G-A	c.2311G>A	p.E771K	Missense	17/18	-	2
21-22906890-T-C	c.2315T>C	p.M772T	Missense	17/18	-	1
21-22906891-G-A	c.2316G>A	p.M772I	Missense	17/18	-	2
21-22906891-G-C	c.2316G>C	p.M772I	Missense	17/18	-	1
21-22906891-G-T	c.2316G>T	p.M772I	Missense	17/18	-	1
21-22906892-A-T	c.2317A>T	p.R773*	Nonsense	17/18	-	1
21-22906899-A-G	c.2324A>G	p.E775G	Missense	17/18	-	1
21-22906900-G-A	c.2325G>A	p.E775=	Synonymous	17/18	-	3
21-22906904-G-A	c.2329G>A	p.E777K	Missense	17/18	-	7
21-22906904-G-C	c.2329G>C	p.E777Q	Missense	17/18	-	1
21-22906908-G-T	c.2333G>T	p.R778I	Missense	17/18	-	1
21-22906910-G-A	c.2335G>A	p.V779I	Missense	17/18	-	2
21-22906914-C-A	c.2339C>A	p.T780N	Missense	17/18	-	5
21-22906918-T-A	c.2343T>A	p.N781K	Missense	17/18	-	2
21-22906918-T-G	c.2343T>G	p.N781K	Missense	17/18	-	1
21-22906922-G-A	c.2347G>A	p.E783K	Missense	17/18	-	1
21-22906922-G-T	c.2347G>T	p.E783*	Nonsense	17/18	-	3
21-22906924-A-C	c.2349A>C	p.E783D	Missense	17/18	-	2
21-22906924-A-T	c.2349A>T	p.E783D	Missense	17/18	-	2
21-22906925-G-A	c.2350G>A	p.D784N	Missense	17/18	-	2
21-22906925-G-T	c.2350G>T	p.D784Y	Missense	17/18	-	1
21-22906928-G-C	c.2353G>C	p.G785R	Missense	17/18	-	1
21-22906927-TG-T	c.2355del	p.S786Afs*3	Frameshift	17/18	-	1
21-22906932-G-C	c.2357G>C	p.S786T	Missense	17/18	-	1
21-22906934-C-A	c.2359C>A	p.P787T	Missense	17/18	-	1
21-22906936-A-C	c.2361A>C	p.P787=	Synonymous	17/18	-	1
21-22906936-A-G	c.2361A>G	p.P787=	Synonymous	17/18	-	1
21-22906936-A-T	c.2361A>T	p.P787=	Synonymous	17/18	-	1
21-22906937-G-A	c.2362G>A	p.V788I	Missense	17/18	-	1
21-22906941-A-T	c.2366A>T	p.N789I	Missense	17/18	-	1
21-22906943-G-T	c.2368G>T	p.E790*	Nonsense	17/18	-	1
21-22906952-G-T	c.2377G>T	p.E793*	Nonsense	17/18	-	1
21-22906955-A-G	c.2380A>G	p.T794A	Missense	17/18	-	1
21-22906962-C-A	c.2387C>A	p.P796Q	Missense	17/18	-	1
21-22906964-C-A	c.2389C>A	p.L797M	Missense	17/18	-	1
21-22906964-C-T	c.2389C>T	p.L797=	Synonymous	17/18	-	2
21-22906966-G-A	c.2391G>A	p.L797=	Synonymous	17/18	-	2
21-22906966-G-C	c.2391G>C	p.L797=	Synonymous	17/18	-	2
21-22906966-G-T	c.2391G>T	p.L797=	Synonymous	17/18	-	2
21-22906964-CTGACAGAACCTGAGTA-C	c.2392_2402+5del	-	SpliceDonorDeletion	17/18	17/17	1
21-22906970-G-T	c.2395G>T	p.E799*	Nonsense	17/18	-	2
21-22906975-T-C	c.2400T>C	p.P800=	Synonymous	17/18	-	1
21-22906976-G-A	c.2401G>A	p.E801K	Missense	17/18	-	4
21-22906976-G-C	c.2401G>C	p.E801Q	Missense	17/18	-	3
21-22906976-G-T	c.2401G>T	p.E801*	Nonsense	17/18	-	1
21-22906977-A-C	c.2402A>C	p.E801A	Missense	17/18	-	1
21-22906977-A-T	c.2402A>T	p.E801V	Missense	17/18	-	1
21-22908475-C-T	c.2402+1498C>T	-	IntronicSNV	-	17/17	1
21-22910026-T-C	c.2403-141T>C	-	IntronicSNV	-	17/17	1
21-22910051-A-G	c.2403-116A>G	-	IntronicSNV	-	17/17	1
21-22910116-C-T	c.2403-51C>T	-	IntronicSNV	-	17/17	9
21-22910123-T-A	c.2403-44T>A	-	IntronicSNV	-	17/17	5
21-22910123-T-G	c.2403-44T>G	-	IntronicSNV	-	17/17	5
21-22910166-22910167---AAAATTGCCTTT	c.2406_2417dup	p.L803_K806dup	inframe_insertion,splice_region_variant	-	-	1
21-22910167-A-C	c.2403A>C	p.E801D	Missense	18/18	-	1
21-22910171-T-A	c.2407T>A	p.L803M	Missense	18/18	-	1
21-22910171-T-C	c.2407T>C	p.L803=	Synonymous	18/18	-	2
21-22910172-T-C	c.2408T>C	p.L803S	Missense	18/18	-	1
21-22910173-G-A	c.2409G>A	p.L803=	Synonymous	18/18	-	2
21-22910173-G-T	c.2409G>T	p.L803F	Missense	18/18	-	1
21-22910174-C-A	c.2410C>A	p.P804T	Missense	18/18	-	2
21-22910174-C-T	c.2410C>T	p.P804S	Missense	18/18	-	3
21-22910175-C-A	c.2411C>A	p.P804H	Missense	18/18	-	2
21-22910175-C-T	c.2411C>T	p.P804L	Missense	18/18	-	1
21-22910178-T-C	c.2414T>C	p.L805S	Missense	18/18	-	1
21-22910182-G-A	c.2418G>A	p.K806=	Synonymous	18/18	-	1
21-22910182-G-C	c.2418G>C	p.K806N	Missense	18/18	-	1
21-22910183-G-A	c.2419G>A	p.E807K	Missense	18/18	-	1
21-22910184-A-T	c.2420A>T	p.E807V	Missense	18/18	-	1
21-22910185-A-G	c.2421A>G	p.E807=	Synonymous	18/18	-	1
21-22910186-G-A	c.2422G>A	p.E808K	Missense	18/18	-	1
21-22910187-A-C	c.2423A>C	p.E808A	Missense	18/18	-	4
21-22910182-GGAA-G	c.2424_2426del	p.E808del	InFrameDeletion	18/18	-	1
21-22910189-G-T	c.2425G>T	p.D809Y	Missense	18/18	-	1
21-22910190-A-T	c.2426A>T	p.D809V	Missense	18/18	-	1
21-22910192-G-T	c.2428G>T	p.G810W	Missense	18/18	-	1
21-22910193-G-A	c.2429G>A	p.G810E	Missense	18/18	-	1
21-22910194-G-A	c.2430G>A	p.G810=	Synonymous	18/18	-	2
21-22910195-A-G	c.2431A>G	p.K811E	Missense	18/18	-	1
21-22910196-A-C	c.2432A>C	p.K811T	Missense	18/18	-	1
21-22910197-A-G	c.2433A>G	p.K811=	Synonymous	18/18	-	1
21-22910198-G-T	c.2434G>T	p.E812*	Nonsense	18/18	-	1
21-22910199-A-G	c.2435A>G	p.E812G	Missense	18/18	-	1
21-22910201-G-A	c.2437G>A	p.A813T	Missense	18/18	-	3
21-22910201-G-C	c.2437G>C	p.A813P	Missense	18/18	-	1
21-22910201-G-T	c.2437G>T	p.A813S	Missense	18/18	-	2
21-22910202-C-A	c.2438C>A	p.A813D	Missense	18/18	-	4
21-22910202-C-T	c.2438C>T	p.A813V	Missense	18/18	-	2
21-22910205-T-A	c.2441T>A	p.L814Q	Missense	18/18	-	2
21-22910205-T-C	c.2441T>C	p.L814P	Missense	18/18	-	1
21-22910208-A-T	c.2444A>T	p.N815I	Missense	18/18	-	1
21-22910210-C-A	c.2446C>A	p.P816T	Missense	18/18	-	1
21-22910210-C-T	c.2446C>T	p.P816S	Missense	18/18	-	3
21-22910211-C-A	c.2447C>A	p.P816Q	Missense	18/18	-	2
21-22910211-C-T	c.2447C>T	p.P816L	Missense	18/18	-	2
21-22910213-G-A	c.2449G>A	p.E817K	Missense	18/18	-	1
21-22910217-C-A	c.2453C>A	p.T818N	Missense	18/18	-	2
21-22910217-C-T	c.2453C>T	p.T818I	Missense	18/18	-	1
21-22910218-T-A	c.2454T>A	p.T818=	Synonymous	18/18	-	1
21-22910219-A-G	c.2455A>G	p.I819V	Missense	18/18	-	2
21-22910219-A-T	c.2455A>T	p.I819L	Missense	18/18	-	1
21-22910221-A-C	c.2457A>C	p.I819=	Synonymous	18/18	-	1
21-22910221-A-G	c.2457A>G	p.I819M	Missense	18/18	-	1
21-22910222-G-A	c.2458G>A	p.E820K	Missense	18/18	-	3
21-22910222-G-C	c.2458G>C	p.E820Q	Missense	18/18	-	3
21-22910222-G-T	c.2458G>T	p.E820*	Nonsense	18/18	-	3
21-22910223-A-C	c.2459A>C	p.E820A	Missense	18/18	-	2
21-22910226-T-C	c.2462T>C	p.I821T	Missense	18/18	-	3
21-22910225-AT-A	c.2463del	p.V823Ffs*23	Frameshift	18/18	-	3
21-22910226-T-TTTC	c.2463_2464insTCT	p.I821_K822insS	InFrameInsertion	18/18	-	1
21-22910227-T-C	c.2463T>C	p.I821=	Synonymous	18/18	-	2
21-22910229-A-G	c.2465A>G	p.K822R	Missense	18/18	-	2
21-22910230-A-G	c.2466A>G	p.K822=	Synonymous	18/18	-	1
21-22910231-G-C	c.2467G>C	p.V823L	Missense	18/18	-	1
21-22910231-G-T	c.2467G>T	p.V823F	Missense	18/18	-	1
21-22910232-T-A	c.2468T>A	p.V823D	Missense	18/18	-	1
21-22910234-T-A	c.2470T>A	p.S824T	Missense	18/18	-	1
21-22910234-T-C	c.2470T>C	p.S824P	Missense	18/18	-	1
21-22910235-C-T	c.2471C>T	p.S824F	Missense	18/18	-	1
21-22910236-T-A	c.2472T>A	p.S824=	Synonymous	18/18	-	1
21-22910236-T-C	c.2472T>C	p.S824=	Synonymous	18/18	-	2
21-22910236-T-G	c.2472T>G	p.S824=	Synonymous	18/18	-	1
21-22910239-C-A	c.2475C>A	p.N825K	Missense	18/18	-	1
21-22910239-C-T	c.2475C>T	p.N825=	Synonymous	18/18	-	2
21-22910240-G-A	c.2476G>A	p.D826N	Missense	18/18	-	6
21-22910240-G-T	c.2476G>T	p.D826Y	Missense	18/18	-	5
21-22910241-A-G	c.2477A>G	p.D826G	Missense	18/18	-	1
21-22910245-C-A	c.2481C>A	p.I827=	Synonymous	18/18	-	3
21-22910245-C-T	c.2481C>T	p.I827=	Synonymous	18/18	-	3
21-22910246-A-G	c.2482A>G	p.I828V	Missense	18/18	-	1
21-22910246-A-T	c.2482A>T	p.I828F	Missense	18/18	-	1
21-22910247-T-C	c.2483T>C	p.I828T	Missense	18/18	-	1
21-22910248-T-C	c.2484T>C	p.I828=	Synonymous	18/18	-	1
21-22910248-T-G	c.2484T>G	p.I828M	Missense	18/18	-	3
21-22910249-C-G	c.2485C>G	p.Q829E	Missense	18/18	-	2
21-22910251-A-G	c.2487A>G	p.Q829=	Synonymous	18/18	-	4
21-22910253-C-A	c.2489C>A	p.S830*	Nonsense	18/18	-	1
21-22910254-A-G	c.2490A>G	p.S830=	Synonymous	18/18	-	1
21-22910257-A-C	c.2493A>C	p.K831N	Missense	18/18	-	2
21-22910257-A-G	c.2493A>G	p.K831=	Synonymous	18/18	-	1
21-22910257-A-T	c.2493A>T	p.K831N	Missense	18/18	-	2
21-22910258-G-A	c.2494G>A	p.E832K	Missense	18/18	-	2
21-22910261-G-A	c.2497G>A	p.D833N	Missense	18/18	-	1
21-22910263-C-A	c.2499C>A	p.D833E	Missense	18/18	-	2
21-22910263-C-T	c.2499C>T	p.D833=	Synonymous	18/18	-	6
21-22910264-G-A	c.2500G>A	p.D834N	Missense	18/18	-	10
21-22910264-G-C	c.2500G>C	p.D834H	Missense	18/18	-	3
21-22910265-A-G	c.2501A>G	p.D834G	Missense	18/18	-	1
21-22910265-A-T	c.2501A>T	p.D834V	Missense	18/18	-	1
21-22910266-C-A	c.2502C>A	p.D834E	Missense	18/18	-	2
21-22910266-C-G	c.2502C>G	p.D834E	Missense	18/18	-	1
21-22910267-AG-CT	c.2503_2504inv	p.S835L	Missense	18/18	-	1
21-22910267-A-T	c.2503A>T	p.S835C	Missense	18/18	-	1
21-22910268-G-T	c.2504G>T	p.S835I	Missense	18/18	-	1
21-22910267-A-C	c.2503A>C	p.S835R	Missense	18/18	-	2
21-22910269-C-A	c.2505C>A	p.S835R	Missense	18/18	-	3
21-22910269-C-G	c.2505C>G	p.S835R	Missense	18/18	-	2
21-22910272-A-C	c.2508A>C	p.K836N	Missense	18/18	-	1
21-22910272-A-T	c.2508A>T	p.K836N	Missense	18/18	-	1
21-22910328-C-A	c.*50C>A	-	3-UTRSNV	18/18	-	1
21-22910328-C-T	c.*50C>T	-	3-UTRSNV	18/18	-	1
21-22910644-G-GT	c.*367dup	-	3-UTRInsertion	18/18	-	1
21-22910790-A-C	c.*512A>C	-	3-UTRSNV	18/18	-	1
21-22912020-G-A	c.*1742G>A	-	3-UTRSNV	18/18	-	1
21-22912031-T-C	c.*1753T>C	-	3-UTRSNV	18/18	-	1
21-22915335-A-T	c.*5057A>T	-	IntergenicSNV	18/18	-	1
21-22915336-A-T	c.*5058A>T	-	IntergenicSNV	18/18	-	1