CDKAL1

CDKAL1 CDK5 regulatory subunit associated protein 1 like 1

Annotation transcript: NM_017774.3

1190 unique variant annotations were identified in 1151 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
6-20534786-T-A	c.-69T>A	-	5_prime_UTR_variant	1/16	-	1
6-20534965-G-A	c.-50+160G>A	-	intron_variant	-	1/15	1
6-20535534-G-T	c.-49-48G>T	-	intron_variant	-	1/15	2
6-20536094-T-C	c.-6+469T>C	-	intron_variant	-	2/15	1
6-20536520-A-G	c.-6+895A>G	-	intron_variant	-	2/15	1
6-20540582-A-G	c.-6+4957A>G	-	intron_variant	-	2/15	1
6-20540642-G-A	c.-6+5017G>A	-	intron_variant	-	2/15	1
6-20542197-A-G	c.-5-4380A>G	-	IntronicSNV	-	2/15	2
6-20543895-C-A	c.-5-2682C>A	-	IntronicSNV	-	2/15	1
6-20543895-C-G	c.-5-2682C>G	-	IntronicSNV	-	2/15	1
6-20545468-A-G	c.-5-1109A>G	-	IntronicSNV	-	2/15	2
6-20546584-G-A	c.3G>A	p.M1?	Missense	3/16	-	1
6-20546588-T-C	c.7T>C	p.S3P	Missense	3/16	-	1
6-20546588-TC-CT	c.7_8delinsCT	p.S3L	Missense	3/16	-	1
6-20546589-C-G	c.8C>G	p.S3C	Missense	3/16	-	1
6-20546589-C-T	c.8C>T	p.S3F	Missense	3/16	-	2
6-20546600-G-A	c.19G>A	p.D7N	Missense	3/16	-	1
6-20546612-GA-TG	c.31_32delinsTG	p.D11C	Missense	3/16	-	1
6-20546613-A-C	c.32A>C	p.D11A	Missense	3/16	-	1
6-20546614-T-C	c.33T>C	p.D11=	Synonymous	3/16	-	1
6-20546615-G-A	c.34G>A	p.D12N	Missense	3/16	-	1
6-20546617-C-T	c.36C>T	p.D12=	Synonymous	3/16	-	1
6-20546619-T-C	c.38T>C	p.I13T	Missense	3/16	-	2
6-20546620-C-A	c.39C>A	p.I13=	Synonymous	3/16	-	1
6-20546620-C-T	c.39C>T	p.I13=	Synonymous	3/16	-	1
6-20546621-G-A	c.40G>A	p.E14K	Missense	3/16	-	2
6-20546620-CGAA-C	c.42_44del	p.E14del	InFrameDeletion	3/16	-	1
6-20546630-G-A	c.49G>A	p.V17M	Missense	3/16	-	1
6-20546635-T-A	c.54T>A	p.S18=	Synonymous	3/16	-	1
6-20546635-T-C	c.54T>C	p.S18=	Synonymous	3/16	-	1
6-20546635-T-G	c.54T>G	p.S18=	Synonymous	3/16	-	1
6-20546645-T-C	c.64T>C	p.S22P	Missense	3/16	-	1
6-20546645-T-G	c.64T>G	p.S22A	Missense	3/16	-	1
6-20546648-A-T	c.67A>T	p.K23*	Nonsense	3/16	-	1
6-20546654-C-T	c.73C>T	p.Q25*	Nonsense	3/16	-	2
6-20546656-A-C	c.75A>C	p.Q25H	Missense	3/16	-	1
6-20546656-A-T	c.75A>T	p.Q25H	Missense	3/16	-	1
6-20546657-G-T	c.76G>T	p.D26Y	Missense	3/16	-	1
6-20546660-A-G	c.79A>G	p.R27G	Missense	3/16	-	1
6-20546660-AG-CA	c.79_80delinsCA	p.R27Q	Missense	3/16	-	1
6-20546663-C-T	c.82C>T	p.H28Y	Missense	3/16	-	1
6-20546664-A-G	c.83A>G	p.H28R	Missense	3/16	-	1
6-20546669-G-A	c.88G>A	p.V30I	Missense	3/16	-	1
6-20546672-A-G	c.91A>G	p.R31G	Missense	3/16	-	1
6-20546677-G-A	c.96G>A	p.K32=	Synonymous	3/16	-	1
6-20546684-GTC-ATG	c.103_105delinsATG	p.V35M	Missense	3/16	-	1
6-20546688-C-A	c.107C>A	p.P36Q	Missense	3/16	-	1
6-20546688-C-T	c.107C>T	p.P36L	Missense	3/16	-	1
6-20546689-G-A	c.108G>A	p.P36=	Synonymous	3/16	-	2
6-20546689-G-C	c.108G>C	p.P36=	Synonymous	3/16	-	2
6-20546689-G-T	c.108G>T	p.P36=	Synonymous	3/16	-	2
6-20546694-T-C	c.113T>C	p.V38A	Missense	3/16	-	2
6-20546697-G-A	c.116G>A	p.R39Q	Missense	3/16	-	9
6-20546697-GA-AT	c.116_117delinsAT	p.R39H	Missense	3/16	-	1
6-20546697-G-C	c.116G>C	p.R39P	Missense	3/16	-	1
6-20546703-G-A	c.122G>A	p.R41Q	Missense	3/16	-	1
6-20546711-C-A	c.130C>A	p.Q44K	Missense	3/16	-	2
6-20546711-C-T	c.130C>T	p.Q44*	Nonsense	3/16	-	1
6-20546714-A-G	c.133A>G	p.K45E	Missense	3/16	-	1
6-20546715-A-C	c.134A>C	p.K45T	Missense	3/16	-	1
6-20546717-T-A	c.136T>A	p.Y46N	Missense	3/16	-	1
6-20546726-G-A	c.145G>A	p.E49K	Missense	3/16	-	1
6-20546743-A-C	c.162A>C	p.P54=	Synonymous	3/16	-	1
6-20546743-A-G	c.162A>G	p.P54=	Synonymous	3/16	-	1
6-20546743-A-T	c.162A>T	p.P54=	Synonymous	3/16	-	1
6-20546744-C-T	c.163C>T	p.P55S	Missense	3/16	-	1
6-20546745-C-G	c.164C>G	p.P55R	Missense	3/16	-	2
6-20546751-A-T	c.170A>T	p.D57V	Missense	3/16	-	2
6-20546752-C-A	c.171C>A	p.D57E	Missense	3/16	-	1
6-20546752-C-G	c.171C>G	p.D57E	Missense	3/16	-	1
6-20546752-C-T	c.171C>T	p.D57=	Synonymous	3/16	-	1
6-20546754-G-C	c.173G>C	p.S58T	Missense	3/16	-	1
6-20546754-G-T	c.173G>T	p.S58I	Missense	3/16	-	1
6-20546826-C-T	c.173+72C>T	-	IntronicSNV	-	3/15	4
6-20546888-T-G	c.173+134T>G	-	IntronicSNV	-	3/15	1
6-20546909-CCT-C	c.173+155_173+156del	-	IntronicDeletion	-	3/15	1
6-20547241-C-T	c.173+487C>T	-	IntronicSNV	-	3/15	1
6-20548808-A-G	c.174-16A>G	-	IntronicSNV	-	3/15	1
6-20548808-A-T	c.174-16A>T	-	IntronicSNV	-	3/15	1
6-20548828-A-G	c.178A>G	p.I60V	Missense	4/16	-	1
6-20548830-T-A	c.180T>A	p.I60=	Synonymous	4/16	-	1
6-20548830-T-C	c.180T>C	p.I60=	Synonymous	4/16	-	1
6-20548833-A-C	c.183A>C	p.P61=	Synonymous	4/16	-	1
6-20548833-A-G	c.183A>G	p.P61=	Synonymous	4/16	-	1
6-20548833-A-T	c.183A>T	p.P61=	Synonymous	4/16	-	1
6-20548839-A-C	c.189A>C	p.I63=	Synonymous	4/16	-	1
6-20548839-A-T	c.189A>T	p.I63=	Synonymous	4/16	-	1
6-20548847-T-G	c.197T>G	p.I66S	Missense	4/16	-	3
6-20548850-G-A	c.200G>A	p.W67*	Nonsense	4/16	-	3
6-20548856-G-A	c.206G>A	p.R69Q	Missense	4/16	-	2
6-20548858-A-C	c.208A>C	p.T70P	Missense	4/16	-	1
6-20548862-GG-TT	c.212_213delinsTT	p.W71F	Missense	4/16	-	2
6-20548863-G-A	c.213G>A	p.W71*	Nonsense	4/16	-	1
6-20548864-G-T	c.214G>T	p.G72C	Missense	4/16	-	1
6-20548865-G-C	c.215G>C	p.G72A	Missense	4/16	-	1
6-20548868-G-A	c.218G>A	p.C73Y	Missense	4/16	-	2
6-20548873-C-T	c.223C>T	p.H75Y	Missense	4/16	-	8
6-20548877-A-C	c.227A>C	p.N76T	Missense	4/16	-	1
6-20548877-A-G	c.227A>G	p.N76S	Missense	4/16	-	1
6-20548878-T-C	c.228T>C	p.N76=	Synonymous	4/16	-	1
6-20548882-T-A	c.232T>A	p.S78T	Missense	4/16	-	2
6-20548882-T-G	c.232T>G	p.S78A	Missense	4/16	-	1
6-20548887-T-C	c.237T>C	p.D79=	Synonymous	4/16	-	1
6-20548888-G-A	c.238G>A	p.G80R	Missense	4/16	-	1
6-20548891-G-T	c.241G>T	p.E81*	Nonsense	4/16	-	1
6-20548895-A-G	c.245A>G	p.Y82C	Missense	4/16	-	1
6-20548900-G-C	c.250G>C	p.A84P	Missense	4/16	-	1
6-20548900-GC-TA	c.250_251delinsTA	p.A84Y	Missense	4/16	-	1
6-20548903-G-A	c.253G>A	p.G85R	Missense	4/16	-	1
6-20548903-G-C	c.253G>C	p.G85R	Missense	4/16	-	1
6-20548904-G-T	c.254G>T	p.G85V	Missense	4/16	-	2
6-20548915-GC-CA	c.265_266delinsCA	p.A89H	Missense	4/16	-	1
6-20548915-GC-TG	c.265_266delinsTG	p.A89C	Missense	4/16	-	1
6-20548916-C-A	c.266C>A	p.A89D	Missense	4/16	-	1
6-20548922-G-T	c.272G>T	p.G91V	Missense	4/16	-	1
6-20548928-A-G	c.278A>G	p.K93R	Missense	4/16	-	1
6-20548933-A-G	c.283A>G	p.T95A	Missense	4/16	-	1
6-20548934-CA-TG	c.284_285inv	p.T95M	Missense	4/16	-	1
6-20551573-A-C	c.286+2637A>C	-	IntronicSNV	-	4/15	1
6-20553878-G-A	c.286+4942G>A	-	IntronicSNV	-	4/15	1
6-20554951-A-C	c.286+6015A>C	-	IntronicSNV	-	4/15	2
6-20555088-GA-G	c.286+6160del	-	IntronicDeletion	-	4/15	1
6-20556905-G-A	c.286+7969G>A	-	IntronicSNV	-	4/15	1
6-20558826-C-A	c.286+9890C>A	-	IntronicSNV	-	4/15	1
6-20561501-C-T	c.286+12565C>T	-	IntronicSNV	-	4/15	1
6-20562091-T-C	c.286+13155T>C	-	IntronicSNV	-	4/15	1
6-20562740-T-C	c.286+13804T>C	-	IntronicSNV	-	4/15	1
6-20563895-TTTC-T	c.286+14961_286+14963del	-	IntronicDeletion	-	4/15	1
6-20566216-AT-A	c.286+17290del	-	IntronicDeletion	-	4/15	1
6-20567541-G-A	c.286+18605G>A	-	IntronicSNV	-	4/15	1
6-20570039-C-T	c.286+21103C>T	-	IntronicSNV	-	4/15	2
6-20570142-A-G	c.286+21206A>G	-	IntronicSNV	-	4/15	1
6-20570142-A-T	c.286+21206A>T	-	IntronicSNV	-	4/15	1
6-20571064-CA-C	c.286+22136del	-	IntronicDeletion	-	4/15	1
6-20571360-A-G	c.286+22424A>G	-	IntronicSNV	-	4/15	1
6-20571360-A-T	c.286+22424A>T	-	IntronicSNV	-	4/15	1
6-20572325-T-C	c.286+23389T>C	-	IntronicSNV	-	4/15	1
6-20572399-C-G	c.286+23463C>G	-	IntronicSNV	-	4/15	1
6-20572426-C-T	c.286+23490C>T	-	IntronicSNV	-	4/15	1
6-20572694-T-C	c.286+23758T>C	-	IntronicSNV	-	4/15	1
6-20575554-T-C	c.286+26618T>C	-	IntronicSNV	-	4/15	1
6-20578504-AC-A	c.286+29572del	-	IntronicDeletion	-	4/15	1
6-20578852-C-T	c.286+29916C>T	-	IntronicSNV	-	4/15	1
6-20579123-G-A	c.286+30187G>A	-	IntronicSNV	-	4/15	1
6-20580196-C-A	c.286+31260C>A	-	IntronicSNV	-	4/15	1
6-20580196-C-T	c.286+31260C>T	-	IntronicSNV	-	4/15	1
6-20580367-A-G	c.286+31431A>G	-	IntronicSNV	-	4/15	1
6-20580893-G-T	c.286+31957G>T	-	IntronicSNV	-	4/15	1
6-20583769-T-C	c.286+34833T>C	-	IntronicSNV	-	4/15	1
6-20584015-G-GC	c.286+35088dup	-	IntronicInsertion	-	4/15	1
6-20584534-A-G	c.286+35598A>G	-	IntronicSNV	-	4/15	2
6-20585656-C-T	c.286+36720C>T	-	IntronicSNV	-	4/15	1
6-20586092-CT-C	c.286+37166del	-	IntronicDeletion	-	4/15	1
6-20589762-T-C	c.286+40826T>C	-	IntronicSNV	-	4/15	1
6-20590287-G-C	c.286+41351G>C	-	IntronicSNV	-	4/15	1
6-20590509-G-C	c.286+41573G>C	-	IntronicSNV	-	4/15	1
6-20592984-C-T	c.286+44048C>T	-	IntronicSNV	-	4/15	1
6-20597318-G-A	c.286+48382G>A	-	IntronicSNV	-	4/15	1
6-20599628-C-T	c.287-49896C>T	-	IntronicSNV	-	4/15	6
6-20599888-C-T	c.287-49636C>T	-	IntronicSNV	-	4/15	4
6-20601785-C-T	c.287-47739C>T	-	IntronicSNV	-	4/15	2
6-20602940-G-A	c.287-46584G>A	-	IntronicSNV	-	4/15	1
6-20607724-A-G	c.287-41800A>G	-	IntronicSNV	-	4/15	1
6-20609241-G-A	c.287-40283G>A	-	IntronicSNV	-	4/15	1
6-20609491-C-CCTT	c.287-40031_287-40029dup	-	IntronicInsertion	-	4/15	1
6-20609491-C-CCTTCTTCCTCCTCCTT	c.287-40029_287-40028insTTCCTCCTCCTTCTTC	-	IntronicInsertion	-	4/15	1
6-20609491-C-CCTTCTTCCTCCTCCTTCT	c.287-40029_287-40028insTTCCTCCTCCTTCTCTTC	-	IntronicInsertion	-	4/15	1
6-20609491-C-CCTTCTTCCTCCTTCCTT	c.287-40029_287-40028insTTCCTCCTTCCTTCTTC	-	IntronicInsertion	-	4/15	1
6-20609491-C-CCTTCTTCTTCCTCCTTCCTT	c.287-40029_287-40028insTTCTTCCTCCTTCCTTCTTC	-	IntronicInsertion	-	4/15	1
6-20611926-A-G	c.287-37598A>G	-	IntronicSNV	-	4/15	1
6-20611926-A-T	c.287-37598A>T	-	IntronicSNV	-	4/15	1
6-20612724-C-T	c.287-36800C>T	-	IntronicSNV	-	4/15	1
6-20613216-A-G	c.287-36308A>G	-	IntronicSNV	-	4/15	1
6-20614682-C-G	c.287-34842C>G	-	IntronicSNV	-	4/15	1
6-20615281-A-G	c.287-34243A>G	-	IntronicSNV	-	4/15	1
6-20615281-A-T	c.287-34243A>T	-	IntronicSNV	-	4/15	1
6-20615422-T-C	c.287-34102T>C	-	IntronicSNV	-	4/15	1
6-20616105-G-T	c.287-33419G>T	-	IntronicSNV	-	4/15	1
6-20617516-A-G	c.287-32008A>G	-	IntronicSNV	-	4/15	1
6-20617516-A-T	c.287-32008A>T	-	IntronicSNV	-	4/15	1
6-20620003-A-G	c.287-29521A>G	-	IntronicSNV	-	4/15	1
6-20621137-A-G	c.287-28387A>G	-	IntronicSNV	-	4/15	1
6-20621155-A-G	c.287-28369A>G	-	IntronicSNV	-	4/15	1
6-20621238-T-C	c.287-28286T>C	-	IntronicSNV	-	4/15	5
6-20622352-C-G	c.287-27172C>G	-	IntronicSNV	-	4/15	1
6-20622753-C-T	c.287-26771C>T	-	IntronicSNV	-	4/15	2
6-20623084-T-C	c.287-26440T>C	-	IntronicSNV	-	4/15	3
6-20623392-T-A	c.287-26132T>A	-	IntronicSNV	-	4/15	2
6-20623392-T-C	c.287-26132T>C	-	IntronicSNV	-	4/15	2
6-20624034-T-A	c.287-25490T>A	-	IntronicSNV	-	4/15	2
6-20624034-T-C	c.287-25490T>C	-	IntronicSNV	-	4/15	2
6-20624179-C-G	c.287-25345C>G	-	IntronicSNV	-	4/15	1
6-20624239-A-G	c.287-25285A>G	-	IntronicSNV	-	4/15	2
6-20624358-T-C	c.287-25166T>C	-	IntronicSNV	-	4/15	1
6-20624382-A-C	c.287-25142A>C	-	IntronicSNV	-	4/15	3
6-20624382-A-G	c.287-25142A>G	-	IntronicSNV	-	4/15	3
6-20624910-A-G	c.287-24614A>G	-	IntronicSNV	-	4/15	1
6-20624986-A-C	c.287-24538A>C	-	IntronicSNV	-	4/15	2
6-20624986-A-T	c.287-24538A>T	-	IntronicSNV	-	4/15	2
6-20626409-A-G	c.287-23115A>G	-	IntronicSNV	-	4/15	2
6-20626409-A-T	c.287-23115A>T	-	IntronicSNV	-	4/15	2
6-20626651-C-T	c.287-22873C>T	-	IntronicSNV	-	4/15	2
6-20627127-C-A	c.287-22397C>A	-	IntronicSNV	-	4/15	3
6-20627441-C-G	c.287-22083C>G	-	IntronicSNV	-	4/15	1
6-20629581-T-C	c.287-19943T>C	-	IntronicSNV	-	4/15	2
6-20629708-C-T	c.287-19816C>T	-	IntronicSNV	-	4/15	1
6-20631011-T-C	c.287-18513T>C	-	IntronicSNV	-	4/15	3
6-20631545-A-T	c.287-17979A>T	-	IntronicSNV	-	4/15	3
6-20631953-C-A	c.287-17571C>A	-	IntronicSNV	-	4/15	3
6-20632110-C-T	c.287-17414C>T	-	IntronicSNV	-	4/15	2
6-20633297-G-T	c.287-16227G>T	-	IntronicSNV	-	4/15	1
6-20633907-G-A	c.287-15617G>A	-	IntronicSNV	-	4/15	1
6-20634127-T-C	c.287-15397T>C	-	IntronicSNV	-	4/15	1
6-20634341-C-T	c.287-15183C>T	-	IntronicSNV	-	4/15	1
6-20634428-G-T	c.287-15096G>T	-	IntronicSNV	-	4/15	1
6-20634886-T-C	c.287-14638T>C	-	IntronicSNV	-	4/15	1
6-20635026-T-A	c.287-14498T>A	-	IntronicSNV	-	4/15	1
6-20635026-T-C	c.287-14498T>C	-	IntronicSNV	-	4/15	1
6-20635262-C-T	c.287-14262C>T	-	IntronicSNV	-	4/15	1
6-20637306-T-C	c.287-12218T>C	-	IntronicSNV	-	4/15	1
6-20638009-C-G	c.287-11515C>G	-	IntronicSNV	-	4/15	1
6-20638878-C-T	c.287-10646C>T	-	IntronicSNV	-	4/15	1
6-20639409-C-T	c.287-10115C>T	-	IntronicSNV	-	4/15	2
6-20640316-C-T	c.287-9208C>T	-	IntronicSNV	-	4/15	1
6-20640871-T-C	c.287-8653T>C	-	IntronicSNV	-	4/15	3
6-20641336-C-T	c.287-8188C>T	-	IntronicSNV	-	4/15	8
6-20641350-G-A	c.287-8174G>A	-	IntronicSNV	-	4/15	2
6-20641931-T-G	c.287-7593T>G	-	IntronicSNV	-	4/15	2
6-20643222-C-G	c.287-6302C>G	-	IntronicSNV	-	4/15	1
6-20643222-C-T	c.287-6302C>T	-	IntronicSNV	-	4/15	1
6-20643727-G-A	c.287-5797G>A	-	IntronicSNV	-	4/15	2
6-20643752-A-G	c.287-5772A>G	-	IntronicSNV	-	4/15	1
6-20643752-A-T	c.287-5772A>T	-	IntronicSNV	-	4/15	1
6-20644944-A-G	c.287-4580A>G	-	IntronicSNV	-	4/15	1
6-20645126-A-G	c.287-4398A>G	-	IntronicSNV	-	4/15	1
6-20646070-C-A	c.287-3454C>A	-	IntronicSNV	-	4/15	3
6-20646070-C-T	c.287-3454C>T	-	IntronicSNV	-	4/15	3
6-20647660-G-A	c.287-1864G>A	-	IntronicSNV	-	4/15	1
6-20647660-G-T	c.287-1864G>T	-	IntronicSNV	-	4/15	1
6-20648199-A-G	c.287-1325A>G	-	IntronicSNV	-	4/15	2
6-20648199-A-T	c.287-1325A>T	-	IntronicSNV	-	4/15	2
6-20648293-G-A	c.287-1231G>A	-	IntronicSNV	-	4/15	1
6-20648762-A-G	c.287-762A>G	-	IntronicSNV	-	4/15	2
6-20649254-A-T	c.287-270A>T	-	IntronicSNV	-	4/15	2
6-20649525-A-AC	c.288_289insC	p.N97Qfs*20	SpliceAcceptorInsertion	5/16	-	1
6-20649525-A-AG	c.288_289insG	p.N97Efs*20	SpliceAcceptorInsertion	5/16	-	1
6-20649525-A-AT	c.288_289insT	p.N97*	SpliceAcceptorInsertion	5/16	-	1
6-20649533-C-T	c.296C>T	p.S99F	Missense	5/16	-	2
6-20649534-C-A	c.297C>A	p.S99=	Synonymous	5/16	-	1
6-20649534-C-T	c.297C>T	p.S99=	Synonymous	5/16	-	1
6-20649535-G-A	c.298G>A	p.D100N	Missense	5/16	-	1
6-20649538-G-A	c.301G>A	p.A101T	Missense	5/16	-	1
6-20649538-G-T	c.301G>T	p.A101S	Missense	5/16	-	2
6-20649541-G-T	c.304G>T	p.D102Y	Missense	5/16	-	1
6-20649548-G-A	c.311G>A	p.W104*	Nonsense	5/16	-	1
6-20649549-G-A	c.312G>A	p.W104*	Nonsense	5/16	-	1
6-20649550-C-T	c.313C>T	p.L105F	Missense	5/16	-	1
6-20649552-C-T	c.315C>T	p.L105=	Synonymous	5/16	-	2
6-20649555-G-T	c.318G>T	p.L106=	Synonymous	5/16	-	1
6-20649562-T-C	c.325T>C	p.C109R	Missense	5/16	-	1
6-20649563-G-T	c.326G>T	p.C109F	Missense	5/16	-	1
6-20649574-A-C	c.337A>C	p.N113H	Missense	5/16	-	1
6-20649569-T-TA	c.338dup	p.N113Kfs*4	Frameshift	5/16	-	2
6-20649577-C-T	c.340C>T	p.P114S	Missense	5/16	-	2
6-20649578-C-G	c.341C>G	p.P114R	Missense	5/16	-	2
6-20649581-C-G	c.344C>G	p.A115G	Missense	5/16	-	3
6-20649589-C-T	c.352C>T	p.H118Y	Missense	5/16	-	1
6-20649590-A-G	c.353A>G	p.H118R	Missense	5/16	-	1
6-20649596-GA-G	c.362del	p.N121Tfs*32	Frameshift	5/16	-	1
6-20649602-C-T	c.365C>T	p.S122L	Missense	5/16	-	2
6-20650054-T-G	c.371+446T>G	-	IntronicSNV	-	5/15	2
6-20650821-G-A	c.371+1213G>A	-	IntronicSNV	-	5/15	1
6-20650990-G-A	c.371+1382G>A	-	IntronicSNV	-	5/15	2
6-20650990-G-C	c.371+1382G>C	-	IntronicSNV	-	5/15	2
6-20650990-G-T	c.371+1382G>T	-	IntronicSNV	-	5/15	2
6-20652717-C-G	c.371+3109C>G	-	IntronicSNV	-	5/15	11
6-20652717-C-T	c.371+3109C>T	-	IntronicSNV	-	5/15	10
6-20652765-A-G	c.371+3157A>G	-	IntronicSNV	-	5/15	2
6-20652765-A-T	c.371+3157A>T	-	IntronicSNV	-	5/15	1
6-20653550-G-C	c.371+3942G>C	-	IntronicSNV	-	5/15	1
6-20653800-A-G	c.371+4192A>G	-	IntronicSNV	-	5/15	1
6-20654300-G-C	c.371+4692G>C	-	IntronicSNV	-	5/15	1
6-20654897-T-C	c.371+5289T>C	-	IntronicSNV	-	5/15	1
6-20655110-A-G	c.371+5502A>G	-	IntronicSNV	-	5/15	1
6-20655503-A-G	c.371+5895A>G	-	IntronicSNV	-	5/15	1
6-20656800-C-G	c.371+7192C>G	-	IntronicSNV	-	5/15	1
6-20657345-T-C	c.371+7737T>C	-	IntronicSNV	-	5/15	2
6-20657564-A-G	c.371+7956A>G	-	IntronicSNV	-	5/15	44
6-20657865-A-G	c.371+8257A>G	-	IntronicSNV	-	5/15	24
6-20658012-A-C	c.371+8404A>C	-	IntronicSNV	-	5/15	2
6-20659459-G-A	c.371+9851G>A	-	IntronicSNV	-	5/15	3
6-20659587-T-A	c.371+9979T>A	-	IntronicSNV	-	5/15	3
6-20659806-T-C	c.371+10198T>C	-	IntronicSNV	-	5/15	5
6-20660365-T-A	c.371+10757T>A	-	IntronicSNV	-	5/15	3
6-20660365-T-C	c.371+10757T>C	-	IntronicSNV	-	5/15	4
6-20660365-T-G	c.371+10757T>G	-	IntronicSNV	-	5/15	3
6-20660690-G-A	c.371+11082G>A	-	IntronicSNV	-	5/15	2
6-20660693-A-T	c.371+11085A>T	-	IntronicSNV	-	5/15	1
6-20660731-T-C	c.371+11123T>C	-	IntronicSNV	-	5/15	1
6-20661034-A-C	c.371+11426A>C	-	IntronicSNV	-	5/15	132
6-20661143-T-A	c.371+11535T>A	-	IntronicSNV	-	5/15	2
6-20661250-G-A	c.371+11642G>A	-	IntronicSNV	-	5/15	237
6-20661250-G-C	c.371+11642G>C	-	IntronicSNV	-	5/15	239
6-20661250-G-T	c.371+11642G>T	-	IntronicSNV	-	5/15	237
6-20661529-G-T	c.371+11921G>T	-	IntronicSNV	-	5/15	1
6-20661837-C-A	c.371+12229C>A	-	IntronicSNV	-	5/15	1
6-20661842-T-C	c.371+12234T>C	-	IntronicSNV	-	5/15	1
6-20662113-A-G	c.371+12505A>G	-	IntronicSNV	-	5/15	1
6-20662123-A-G	c.371+12515A>G	-	IntronicSNV	-	5/15	1
6-20662217-T-C	c.371+12609T>C	-	IntronicSNV	-	5/15	2
6-20662217-T-G	c.371+12609T>G	-	IntronicSNV	-	5/15	1
6-20662592-G-A	c.371+12984G>A	-	IntronicSNV	-	5/15	1
6-20662966-C-T	c.371+13358C>T	-	IntronicSNV	-	5/15	1
6-20663035-T-A	c.371+13427T>A	-	IntronicSNV	-	5/15	6
6-20663335-G-A	c.371+13727G>A	-	IntronicSNV	-	5/15	7
6-20663632-T-G	c.371+14024T>G	-	IntronicSNV	-	5/15	13
6-20664100-C-T	c.371+14492C>T	-	IntronicSNV	-	5/15	1
6-20664312-A-G	c.371+14704A>G	-	IntronicSNV	-	5/15	2
6-20665081-G-A	c.371+15473G>A	-	IntronicSNV	-	5/15	1
6-20665549-G-A	c.371+15941G>A	-	IntronicSNV	-	5/15	1
6-20665591-G-A	c.371+15983G>A	-	IntronicSNV	-	5/15	1
6-20665730-T-C	c.371+16122T>C	-	IntronicSNV	-	5/15	1
6-20665936-T-G	c.371+16328T>G	-	IntronicSNV	-	5/15	1
6-20665935-GT-G	c.371+16338del	-	IntronicDeletion	-	5/15	1
6-20665946-T-C	c.371+16338T>C	-	IntronicSNV	-	5/15	6
6-20666022-G-A	c.371+16414G>A	-	IntronicSNV	-	5/15	2
6-20666055-G-A	c.371+16447G>A	-	IntronicSNV	-	5/15	1
6-20666244-A-G	c.371+16636A>G	-	IntronicSNV	-	5/15	1
6-20666246-A-G	c.371+16638A>G	-	IntronicSNV	-	5/15	1
6-20666457-T-C	c.371+16849T>C	-	IntronicSNV	-	5/15	1
6-20667382-T-C	c.371+17774T>C	-	IntronicSNV	-	5/15	1
6-20668406-G-T	c.371+18798G>T	-	IntronicSNV	-	5/15	1
6-20673123-T-G	c.371+23515T>G	-	IntronicSNV	-	5/15	1
6-20673880-T-C	c.371+24272T>C	-	IntronicSNV	-	5/15	6
6-20674691-C-T	c.371+25083C>T	-	IntronicSNV	-	5/15	3
6-20674811-G-T	c.371+25203G>T	-	IntronicSNV	-	5/15	1
6-20675295-A-G	c.371+25687A>G	-	IntronicSNV	-	5/15	3
6-20675300-GTT-G	c.371+25701_371+25702del	-	IntronicDeletion	-	5/15	1
6-20675792-C-A	c.371+26184C>A	-	IntronicSNV	-	5/15	14
6-20676023-TA-T	c.371+26426del	-	IntronicDeletion	-	5/15	1
6-20676414-T-TAA	c.371+26806_371+26807insAA	-	IntronicInsertion	-	5/15	2
6-20678430-G-C	c.371+28822G>C	-	IntronicSNV	-	5/15	5
6-20678430-G-T	c.371+28822G>T	-	IntronicSNV	-	5/15	5
6-20679310-T-G	c.371+29702T>G	-	IntronicSNV	-	5/15	3
6-20679709-A-G	c.371+30101A>G	-	IntronicSNV	-	5/15	172
6-20679709-A-T	c.371+30101A>T	-	IntronicSNV	-	5/15	170
6-20680678-T-A	c.371+31070T>A	-	IntronicSNV	-	5/15	8
6-20682622-T-C	c.371+33014T>C	-	IntronicSNV	-	5/15	7
6-20683164-G-A	c.371+33556G>A	-	IntronicSNV	-	5/15	4
6-20683164-G-C	c.371+33556G>C	-	IntronicSNV	-	5/15	3
6-20683164-G-T	c.371+33556G>T	-	IntronicSNV	-	5/15	3
6-20683982-T-A	c.371+34374T>A	-	IntronicSNV	-	5/15	1
6-20683982-T-G	c.371+34374T>G	-	IntronicSNV	-	5/15	1
6-20685486-T-C	c.371+35878T>C	-	IntronicSNV	-	5/15	25
6-20686573-C-A	c.371+36965C>A	-	IntronicSNV	-	5/15	15
6-20686878-C-T	c.371+37270C>T	-	IntronicSNV	-	5/15	2
6-20686996-C-A	c.371+37388C>A	-	IntronicSNV	-	5/15	33
6-20686996-C-T	c.371+37388C>T	-	IntronicSNV	-	5/15	32
6-20687802-G-A	c.371+38194G>A	-	IntronicSNV	-	5/15	1
6-20687802-G-C	c.371+38194G>C	-	IntronicSNV	-	5/15	1
6-20687802-G-T	c.371+38194G>T	-	IntronicSNV	-	5/15	1
6-20688121-T-A	c.371+38513T>A	-	IntronicSNV	-	5/15	28
6-20688121-T-G	c.371+38513T>G	-	IntronicSNV	-	5/15	28
6-20688386-GT-G	c.371+38785del	-	IntronicDeletion	-	5/15	1
6-20689945-G-A	c.371+40337G>A	-	IntronicSNV	-	5/15	5
6-20689945-G-T	c.371+40337G>T	-	IntronicSNV	-	5/15	5
6-20691334-T-G	c.371+41726T>G	-	IntronicSNV	-	5/15	1
6-20692968-TA-T	c.371+43369del	-	IntronicDeletion	-	5/15	1
6-20693193-TA-T	c.371+43594del	-	IntronicDeletion	-	5/15	1
6-20694228-C-T	c.371+44620C>T	-	IntronicSNV	-	5/15	1
6-20694884-C-T	c.372-44866C>T	-	IntronicSNV	-	5/15	32
6-20699324-C-T	c.372-40426C>T	-	IntronicSNV	-	5/15	1
6-20700123-T-A	c.372-39627T>A	-	IntronicSNV	-	5/15	1
6-20700600-A-G	c.372-39150A>G	-	IntronicSNV	-	5/15	1
6-20700600-A-T	c.372-39150A>T	-	IntronicSNV	-	5/15	1
6-20703952-A-G	c.372-35798A>G	-	IntronicSNV	-	5/15	21
6-20705590-T-G	c.372-34160T>G	-	IntronicSNV	-	5/15	2
6-20712461-C-G	c.372-27289C>G	-	IntronicSNV	-	5/15	2
6-20712461-C-T	c.372-27289C>T	-	IntronicSNV	-	5/15	2
6-20713706-A-G	c.372-26044A>G	-	IntronicSNV	-	5/15	3
6-20715861-G-A	c.372-23889G>A	-	IntronicSNV	-	5/15	1
6-20716253-G-A	c.372-23497G>A	-	IntronicSNV	-	5/15	2
6-20716958-G-A	c.372-22792G>A	-	IntronicSNV	-	5/15	1
6-20716958-G-T	c.372-22792G>T	-	IntronicSNV	-	5/15	1
6-20717095-A-G	c.372-22655A>G	-	IntronicSNV	-	5/15	3
6-20717255-T-C	c.372-22495T>C	-	IntronicSNV	-	5/15	47
6-20717404-A-G	c.372-22346A>G	-	IntronicSNV	-	5/15	6
6-20718240-A-T	c.372-21510A>T	-	IntronicSNV	-	5/15	6
6-20719145-A-G	c.372-20605A>G	-	IntronicSNV	-	5/15	1
6-20719561-G-A	c.372-20189G>A	-	IntronicSNV	-	5/15	2
6-20720279-T-C	c.372-19471T>C	-	IntronicSNV	-	5/15	1
6-20721583-C-A	c.372-18167C>A	-	IntronicSNV	-	5/15	1
6-20722325-C-T	c.372-17425C>T	-	IntronicSNV	-	5/15	2
6-20725007-T-A	c.372-14743T>A	-	IntronicSNV	-	5/15	1
6-20725240-T-C	c.372-14510T>C	-	IntronicSNV	-	5/15	5
6-20725423-G-C	c.372-14327G>C	-	IntronicSNV	-	5/15	15
6-20725694-A-C	c.372-14056A>C	-	IntronicSNV	-	5/15	1
6-20728513-C-T	c.372-11237C>T	-	IntronicSNV	-	5/15	2
6-20728731-T-C	c.372-11019T>C	-	IntronicSNV	-	5/15	67
6-20731524-A-C	c.372-8226A>C	-	IntronicSNV	-	5/15	5
6-20731524-A-T	c.372-8226A>T	-	IntronicSNV	-	5/15	5
6-20733389-G-A	c.372-6361G>A	-	IntronicSNV	-	5/15	2
6-20733454-C-G	c.372-6296C>G	-	IntronicSNV	-	5/15	1
6-20734994-A-C	c.372-4756A>C	-	IntronicSNV	-	5/15	1
6-20734994-A-G	c.372-4756A>G	-	IntronicSNV	-	5/15	1
6-20736038-T-A	c.372-3712T>A	-	IntronicSNV	-	5/15	1
6-20739755-C-T	c.377C>T	p.A126V	Missense	6/16	-	1
6-20739763-G-A	c.385G>A	p.E129K	Missense	6/16	-	1
6-20739768-C-G	c.390C>G	p.N130K	Missense	6/16	-	1
6-20739777-C-G	c.399C>G	p.I133M	Missense	6/16	-	1
6-20739777-C-T	c.399C>T	p.I133=	Synonymous	6/16	-	3
6-20739778-G-A	c.400G>A	p.V134I	Missense	6/16	-	4
6-20739778-G-C	c.400G>C	p.V134L	Missense	6/16	-	1
6-20739778-G-T	c.400G>T	p.V134L	Missense	6/16	-	1
6-20739781-C-G	c.403C>G	p.L135V	Missense	6/16	-	1
6-20739784-G-A	c.406G>A	p.A136T	Missense	6/16	-	1
6-20739784-G-T	c.406G>T	p.A136S	Missense	6/16	-	4
6-20739788-G-C	c.410G>C	p.G137A	Missense	6/16	-	1
6-20739792-C-T	c.414C>T	p.C138=	Synonymous	6/16	-	1
6-20739793-G-A	c.415G>A	p.V139I	Missense	6/16	-	3
6-20739799-C-T	c.421C>T	p.Q141*	Nonsense	6/16	-	2
6-20739803-C-T	c.425C>T	p.A142V	Missense	6/16	-	1
6-20739806-A-G	c.428A>G	p.Q143R	Missense	6/16	-	1
6-20739809-C-CT	c.432dup	p.R145Sfs*6	Frameshift	6/16	-	1
6-20739811-C-A	c.433C>A	p.R145S	Missense	6/16	-	1
6-20739811-C-T	c.433C>T	p.R145C	Missense	6/16	-	3
6-20739812-G-A	c.434G>A	p.R145H	Missense	6/16	-	5
6-20739812-G-T	c.434G>T	p.R145L	Missense	6/16	-	2
6-20739818-A-G	c.440A>G	p.D147G	Missense	6/16	-	1
6-20739822-C-G	c.444C>G	p.Y148*	Nonsense	6/16	-	1
6-20739823-C-T	c.445C>T	p.L149F	Missense	6/16	-	1
6-20739826-A-G	c.448A>G	p.K150E	Missense	6/16	-	1
6-20739829-GGA-AGC	c.451_453delinsAGC	p.G151S	Missense	6/16	-	1
6-20739830-G-A	c.452G>A	p.G151E	Missense	6/16	-	2
6-20739830-G-C	c.452G>C	p.G151A	Missense	6/16	-	1
6-20739833-T-A	c.455T>A	p.L152Q	Missense	6/16	-	1
6-20739834-G-T	c.456G>T	p.L152=	Synonymous	6/16	-	1
6-20739835-AG-TT	c.457_458delinsTT	p.S153F	Missense	6/16	-	1
6-20739839-T-G	c.461T>G	p.I154S	Missense	6/16	-	2
6-20739842-T-C	c.464T>C	p.I155T	Missense	6/16	-	1
6-20739846-G-A	c.468G>A	p.G156=	Synonymous	6/16	-	1
6-20739907-C-T	c.468+61C>T	-	IntronicSNV	-	6/15	5
6-20739958-G-A	c.468+112G>A	-	IntronicSNV	-	6/15	1
6-20740007-G-C	c.468+161G>C	-	IntronicSNV	-	6/15	3
6-20740019-C-T	c.468+173C>T	-	IntronicSNV	-	6/15	3
6-20740296-C-T	c.468+450C>T	-	IntronicSNV	-	6/15	1
6-20740741-A-G	c.468+895A>G	-	IntronicSNV	-	6/15	1
6-20743501-C-A	c.468+3655C>A	-	IntronicSNV	-	6/15	1
6-20744727-C-T	c.468+4881C>T	-	IntronicSNV	-	6/15	1
6-20745096-G-C	c.468+5250G>C	-	IntronicSNV	-	6/15	1
6-20745953-TA-T	c.468+6116del	-	IntronicDeletion	-	6/15	1
6-20746236-C-A	c.468+6390C>A	-	IntronicSNV	-	6/15	1
6-20751241-C-G	c.469-7585C>G	-	IntronicSNV	-	6/15	1
6-20751315-T-C	c.469-7511T>C	-	IntronicSNV	-	6/15	4
6-20754761-T-C	c.469-4065T>C	-	IntronicSNV	-	6/15	1
6-20755932-G-A	c.469-2894G>A	-	IntronicSNV	-	6/15	1
6-20758633-A-G	c.469-193A>G	-	IntronicSNV	-	6/15	2
6-20758704-A-G	c.469-122A>G	-	IntronicSNV	-	6/15	4
6-20758760-A-G	c.469-66A>G	-	IntronicSNV	-	6/15	6
6-20758760-A-T	c.469-66A>T	-	IntronicSNV	-	6/15	6
6-20758822-C-T	c.469-4C>T	-	IntronicSNV	-	6/15	1
6-20758829-C-G	c.472C>G	p.Q158E	Missense	7/16	-	1
6-20758834-G-A	c.477G>A	p.Q159=	Synonymous	7/16	-	1
6-20758835-A-G	c.478A>G	p.I160V	Missense	7/16	-	1
6-20758836-T-G	c.479T>G	p.I160R	Missense	7/16	-	1
6-20758838-G-A	c.481G>A	p.D161N	Missense	7/16	-	1
6-20758841-CG-AT	c.484_485delinsAT	p.R162I	Missense	7/16	-	1
6-20758841-C-T	c.484C>T	p.R162C	Missense	7/16	-	11
6-20758843-T-C	c.486T>C	p.R162=	Synonymous	7/16	-	1
6-20758858-G-A	c.501G>A	p.V167=	Synonymous	7/16	-	1
6-20758859-G-A	c.502G>A	p.E168K	Missense	7/16	-	2
6-20758861-G-A	c.504G>A	p.E168=	Synonymous	7/16	-	1
6-20758864-G-A	c.507G>A	p.E169=	Synonymous	7/16	-	1
6-20758868-A-C	c.511A>C	p.I171L	Missense	7/16	-	1
6-20758871-A-T	c.514A>T	p.K172*	Nonsense	7/16	-	1
6-20758943-G-T	c.517+69G>T	-	IntronicSNV	-	7/15	8
6-20758957-G-A	c.517+83G>A	-	IntronicSNV	-	7/15	1
6-20759122-T-C	c.517+248T>C	-	IntronicSNV	-	7/15	1
6-20759122-T-G	c.517+248T>G	-	IntronicSNV	-	7/15	2
6-20759210-G-T	c.517+336G>T	-	IntronicSNV	-	7/15	1
6-20759577-A-G	c.517+703A>G	-	IntronicSNV	-	7/15	1
6-20761335-A-G	c.517+2461A>G	-	IntronicSNV	-	7/15	1
6-20763171-G-A	c.517+4297G>A	-	IntronicSNV	-	7/15	2
6-20764250-C-T	c.517+5376C>T	-	IntronicSNV	-	7/15	1
6-20766103-C-T	c.517+7229C>T	-	IntronicSNV	-	7/15	1
6-20766697-C-A	c.517+7823C>A	-	IntronicSNV	-	7/15	8
6-20767890-T-C	c.517+9016T>C	-	IntronicSNV	-	7/15	1
6-20769299-T-C	c.517+10425T>C	-	IntronicSNV	-	7/15	1
6-20770870-A-T	c.518-10506A>T	-	IntronicSNV	-	7/15	1
6-20781290-G-A	c.518-86G>A	-	IntronicSNV	-	7/15	1
6-20781381-TC-CG	c.523_524delinsCG	p.S175R	Missense	8/16	-	1
6-20781382-C-A	c.524C>A	p.S175Y	Missense	8/16	-	1
6-20781382-C-T	c.524C>T	p.S175F	Missense	8/16	-	3
6-20781387-AGA-TGG	c.529_531delinsTGG	p.R177W	Missense	8/16	-	1
6-20781392-G-T	c.534G>T	p.L178=	Synonymous	8/16	-	1
6-20781396-G-A	c.538G>A	p.G180S	Missense	8/16	-	2
6-20781397-G-A	c.539G>A	p.G180D	Missense	8/16	-	2
6-20781397-G-T	c.539G>T	p.G180V	Missense	8/16	-	2
6-20781408-G-C	c.550G>C	p.D184H	Missense	8/16	-	1
6-20781420-C-A	c.562C>A	p.R188=	Synonymous	8/16	-	1
6-20781422-G-A	c.564G>A	p.R188=	Synonymous	8/16	-	1
6-20781422-G-T	c.564G>T	p.R188=	Synonymous	8/16	-	1
6-20781421-G-A	c.563G>A	p.R188Q	Missense	8/16	-	1
6-20781421-GG-AT	c.563_564delinsAT	p.R188H	Missense	8/16	-	1
6-20781422-G-C	c.564G>C	p.R188=	Synonymous	8/16	-	2
6-20781427-G-A	c.569G>A	p.G190E	Missense	8/16	-	1
6-20781425-TG-T	c.572del	p.G191Efs*14	Frameshift	8/16	-	2
6-20781430-G-C	c.572G>C	p.G191A	Missense	8/16	-	1
6-20781431-A-T	c.573A>T	p.G191=	Synonymous	8/16	-	2
6-20781432-G-A	c.574G>A	p.A192T	Missense	8/16	-	2
6-20781433-C-G	c.575C>G	p.A192G	Missense	8/16	-	1
6-20781435-C-T	c.577C>T	p.R193*	Nonsense	8/16	-	3
6-20781436-G-A	c.578G>A	p.R193Q	Missense	8/16	-	1
6-20781438-T-C	c.580T>C	p.L194=	Synonymous	8/16	-	1
6-20781440-G-A	c.582G>A	p.L194=	Synonymous	8/16	-	1
6-20781448-C-T	c.590C>T	p.P197L	Missense	8/16	-	2
6-20781449-G-T	c.591G>T	p.P197=	Synonymous	8/16	-	1
6-20781452-G-C	c.594G>C	p.K198N	Missense	8/16	-	1
6-20781456-AGG-TGT	c.598_600delinsTGT	p.R200C	Missense	8/16	-	1
6-20781460-A-G	c.602A>G	p.K201R	Missense	8/16	-	1
6-20781466-C-T	c.608C>T	p.P203L	Missense	8/16	-	1
6-20781474-G-T	c.616G>T	p.E206*	Nonsense	8/16	-	2
6-20781480-A-G	c.622A>G	p.I208V	Missense	8/16	-	1
6-20781481-T-C	c.623T>C	p.I208T	Missense	8/16	-	1
6-20781484-C-T	c.626C>T	p.S209F	Missense	8/16	-	6
6-20781488-C-A	c.630C>A	p.I210=	Synonymous	8/16	-	1
6-20781488-C-T	c.630C>T	p.I210=	Synonymous	8/16	-	1
6-20781491-T-C	c.633T>C	p.N211=	Synonymous	8/16	-	1
6-20781494-C-T	c.636C>T	p.T212=	Synonymous	8/16	-	1
6-20781495-G-A	c.637G>A	p.G213R	Missense	8/16	-	2
6-20781495-G-C	c.637G>C	p.G213R	Missense	8/16	-	1
6-20782196-G-T	c.638+700G>T	-	IntronicSNV	-	8/15	2
6-20782438-C-T	c.638+942C>T	-	IntronicSNV	-	8/15	2
6-20790477-C-T	c.638+8981C>T	-	IntronicSNV	-	8/15	1
6-20791047-G-C	c.638+9551G>C	-	IntronicSNV	-	8/15	1
6-20791712-C-T	c.638+10216C>T	-	IntronicSNV	-	8/15	1
6-20794625-T-C	c.638+13129T>C	-	IntronicSNV	-	8/15	2
6-20794662-C-T	c.638+13166C>T	-	IntronicSNV	-	8/15	1
6-20795866-A-AT	c.638+14374dup	-	IntronicInsertion	-	8/15	1
6-20795954-C-T	c.638+14458C>T	-	IntronicSNV	-	8/15	1
6-20799887-T-A	c.638+18391T>A	-	IntronicSNV	-	8/15	1
6-20800170-G-C	c.638+18674G>C	-	IntronicSNV	-	8/15	1
6-20800635-G-C	c.638+19139G>C	-	IntronicSNV	-	8/15	1
6-20803687-G-A	c.638+22191G>A	-	IntronicSNV	-	8/15	1
6-20807130-G-A	c.638+25634G>A	-	IntronicSNV	-	8/15	1
6-20807130-G-T	c.638+25634G>T	-	IntronicSNV	-	8/15	1
6-20807204-G-A	c.638+25708G>A	-	IntronicSNV	-	8/15	1
6-20808742-G-T	c.638+27246G>T	-	IntronicSNV	-	8/15	1
6-20809794-A-T	c.638+28298A>T	-	IntronicSNV	-	8/15	1
6-20809817-C-CT	c.638+28329dup	-	IntronicInsertion	-	8/15	1
6-20809890-T-A	c.638+28394T>A	-	IntronicSNV	-	8/15	1
6-20809890-T-C	c.638+28394T>C	-	IntronicSNV	-	8/15	1
6-20810047-T-C	c.638+28551T>C	-	IntronicSNV	-	8/15	1
6-20811500-G-A	c.638+30004G>A	-	IntronicSNV	-	8/15	1
6-20811500-G-T	c.638+30004G>T	-	IntronicSNV	-	8/15	1
6-20811626-G-T	c.638+30130G>T	-	IntronicSNV	-	8/15	1
6-20812588-G-A	c.638+31092G>A	-	IntronicSNV	-	8/15	10
6-20813375-G-C	c.638+31879G>C	-	IntronicSNV	-	8/15	1
6-20814416-G-A	c.639-31890G>A	-	IntronicSNV	-	8/15	1
6-20814416-G-T	c.639-31890G>T	-	IntronicSNV	-	8/15	1
6-20814478-T-A	c.639-31828T>A	-	IntronicSNV	-	8/15	1
6-20817357-A-G	c.639-28949A>G	-	IntronicSNV	-	8/15	1
6-20817357-A-T	c.639-28949A>T	-	IntronicSNV	-	8/15	1
6-20817623-C-T	c.639-28683C>T	-	IntronicSNV	-	8/15	1
6-20818478-G-A	c.639-27828G>A	-	IntronicSNV	-	8/15	1
6-20818539-T-A	c.639-27767T>A	-	IntronicSNV	-	8/15	1
6-20819976-C-T	c.639-26330C>T	-	IntronicSNV	-	8/15	2
6-20820391-C-A	c.639-25915C>A	-	IntronicSNV	-	8/15	1
6-20821489-G-A	c.639-24817G>A	-	IntronicSNV	-	8/15	2
6-20821662-T-C	c.639-24644T>C	-	IntronicSNV	-	8/15	1
6-20825018-T-C	c.639-21288T>C	-	IntronicSNV	-	8/15	1
6-20826033-G-A	c.639-20273G>A	-	IntronicSNV	-	8/15	1
6-20826281-C-A	c.639-20025C>A	-	IntronicSNV	-	8/15	2
6-20827072-G-A	c.639-19234G>A	-	IntronicSNV	-	8/15	1
6-20827828-G-A	c.639-18478G>A	-	IntronicSNV	-	8/15	1
6-20827828-G-C	c.639-18478G>C	-	IntronicSNV	-	8/15	1
6-20827839-A-G	c.639-18467A>G	-	IntronicSNV	-	8/15	1
6-20827839-A-T	c.639-18467A>T	-	IntronicSNV	-	8/15	1
6-20829734-G-A	c.639-16572G>A	-	IntronicSNV	-	8/15	1
6-20830106-T-C	c.639-16200T>C	-	IntronicSNV	-	8/15	1
6-20831272-C-T	c.639-15034C>T	-	IntronicSNV	-	8/15	1
6-20832165-C-T	c.639-14141C>T	-	IntronicSNV	-	8/15	1
6-20833602-C-T	c.639-12704C>T	-	IntronicSNV	-	8/15	1
6-20835260-T-A	c.639-11046T>A	-	IntronicSNV	-	8/15	1
6-20844151-G-A	c.639-2155G>A	-	IntronicSNV	-	8/15	1
6-20846312-C-A	c.645C>A	p.L215=	Synonymous	9/16	-	1
6-20846312-C-G	c.645C>G	p.L215=	Synonymous	9/16	-	1
6-20846312-C-T	c.645C>T	p.L215=	Synonymous	9/16	-	2
6-20846320-G-A	c.653G>A	p.C218Y	Missense	9/16	-	1
6-20846320-G-T	c.653G>T	p.C218F	Missense	9/16	-	1
6-20846322-A-G	c.655A>G	p.T219A	Missense	9/16	-	1
6-20846328-T-A	c.661T>A	p.C221S	Missense	9/16	-	6
6-20846329-G-C	c.662G>C	p.C221S	Missense	9/16	-	4
6-20846329-G-A	c.662G>A	p.C221Y	Missense	9/16	-	1
6-20846330-CA-C	c.667del	p.T223Lfs*16	Frameshift	9/16	-	1
6-20846335-C-T	c.668C>T	p.T223I	Missense	9/16	-	1
6-20846337-A-G	c.670A>G	p.K224E	Missense	9/16	-	1
6-20846341-A-G	c.674A>G	p.H225R	Missense	9/16	-	2
6-20846342-C-T	c.675C>T	p.H225=	Synonymous	9/16	-	3
6-20846366-T-A	c.699T>A	p.Y233*	Nonsense	9/16	-	1
6-20846366-T-C	c.699T>C	p.Y233=	Synonymous	9/16	-	1
6-20846367-C-G	c.700C>G	p.P234A	Missense	9/16	-	3
6-20846366-TC-T	c.701del	p.P234Qfs*5	Frameshift	9/16	-	1
6-20846376-G-A	c.709G>A	p.E237K	Missense	9/16	-	2
6-20846376-G-T	c.709G>T	p.E237*	Nonsense	9/16	-	1
6-20846385-G-A	c.718G>A	p.D240N	Missense	9/16	-	2
6-20846385-G-T	c.718G>T	p.D240Y	Missense	9/16	-	1
6-20846388-A-G	c.721A>G	p.R241G	Missense	9/16	-	2
6-20846389-G-A	c.722G>A	p.R241K	Missense	9/16	-	1
6-20846391-G-A	c.724G>A	p.A242T	Missense	9/16	-	1
6-20846393-C-T	c.726C>T	p.A242=	Synonymous	9/16	-	2
6-20846394-A-T	c.727A>T	p.K243*	Nonsense	9/16	-	1
6-20846400-TC-CT	c.733_734delinsCT	p.S245L	Missense	9/16	-	1
6-20846401-C-T	c.734C>T	p.S245F	Missense	9/16	-	1
6-20846403-T-C	c.736T>C	p.F246L	Missense	9/16	-	1
6-20846405-T-A	c.738T>A	p.F246L	Missense	9/16	-	1
6-20846405-T-G	c.738T>G	p.F246L	Missense	9/16	-	1
6-20846406-C-T	c.739C>T	p.Q247*	Nonsense	9/16	-	1
6-20846409-G-A	c.742G>A	p.E248K	Missense	9/16	-	1
6-20846530-C-T	c.742+121C>T	-	IntronicSNV	-	9/15	4
6-20846603-C-A	c.742+194C>A	-	IntronicSNV	-	9/15	1
6-20849412-C-G	c.742+3003C>G	-	IntronicSNV	-	9/15	1
6-20849412-C-T	c.742+3003C>T	-	IntronicSNV	-	9/15	1
6-20853617-CAAAACAAAAAAAAAACA-C	c.742+7213_742+7229del	-	IntronicDeletion	-	9/15	1
6-20854418-G-A	c.742+8009G>A	-	IntronicSNV	-	9/15	1
6-20854547-C-A	c.742+8138C>A	-	IntronicSNV	-	9/15	1
6-20854547-C-T	c.742+8138C>T	-	IntronicSNV	-	9/15	1
6-20855005-T-G	c.742+8596T>G	-	IntronicSNV	-	9/15	1
6-20856703-A-G	c.742+10294A>G	-	IntronicSNV	-	9/15	3
6-20858852-T-G	c.742+12443T>G	-	IntronicSNV	-	9/15	1
6-20859130-G-T	c.742+12721G>T	-	IntronicSNV	-	9/15	1
6-20863261-A-T	c.742+16852A>T	-	IntronicSNV	-	9/15	1
6-20863260-TA-T	c.742+16859del	-	IntronicDeletion	-	9/15	1
6-20866363-C-G	c.742+19954C>G	-	IntronicSNV	-	9/15	1
6-20866363-C-T	c.742+19954C>T	-	IntronicSNV	-	9/15	1
6-20867966-G-T	c.742+21557G>T	-	IntronicSNV	-	9/15	1
6-20868748-G-A	c.742+22339G>A	-	IntronicSNV	-	9/15	1
6-20868818-T-G	c.742+22409T>G	-	IntronicSNV	-	9/15	1
6-20868823-TG-T	c.742+22416del	-	IntronicDeletion	-	9/15	1
6-20868856-A-G	c.742+22447A>G	-	IntronicSNV	-	9/15	1
6-20868908-T-G	c.742+22499T>G	-	IntronicSNV	-	9/15	1
6-20869165-T-G	c.742+22756T>G	-	IntronicSNV	-	9/15	1
6-20869480-G-A	c.742+23071G>A	-	IntronicSNV	-	9/15	1
6-20870093-T-C	c.742+23684T>C	-	IntronicSNV	-	9/15	1
6-20876683-G-A	c.742+30274G>A	-	IntronicSNV	-	9/15	1
6-20881386-C-T	c.742+34977C>T	-	IntronicSNV	-	9/15	1
6-20882076-CT-C	c.742+35672del	-	IntronicDeletion	-	9/15	1
6-20883616-T-G	c.742+37207T>G	-	IntronicSNV	-	9/15	1
6-20886303-A-C	c.742+39894A>C	-	IntronicSNV	-	9/15	1
6-20886303-A-T	c.742+39894A>T	-	IntronicSNV	-	9/15	1
6-20887954-G-A	c.742+41545G>A	-	IntronicSNV	-	9/15	3
6-20887954-G-T	c.742+41545G>T	-	IntronicSNV	-	9/15	2
6-20890372-G-A	c.742+43963G>A	-	IntronicSNV	-	9/15	1
6-20892303-C-T	c.742+45894C>T	-	IntronicSNV	-	9/15	1
6-20892304-A-G	c.742+45895A>G	-	IntronicSNV	-	9/15	1
6-20896969-G-A	c.742+50560G>A	-	IntronicSNV	-	9/15	1
6-20900228-C-G	c.742+53819C>G	-	IntronicSNV	-	9/15	1
6-20900228-C-T	c.742+53819C>T	-	IntronicSNV	-	9/15	1
6-20900695-G-A	c.742+54286G>A	-	IntronicSNV	-	9/15	1
6-20901311-A-G	c.743-54339A>G	-	IntronicSNV	-	9/15	1
6-20903971-T-C	c.743-51679T>C	-	IntronicSNV	-	9/15	1
6-20903971-T-G	c.743-51679T>G	-	IntronicSNV	-	9/15	1
6-20907881-A-G	c.743-47769A>G	-	IntronicSNV	-	9/15	1
6-20911003-G-A	c.743-44647G>A	-	IntronicSNV	-	9/15	1
6-20912672-C-G	c.743-42978C>G	-	IntronicSNV	-	9/15	1
6-20916326-G-A	c.743-39324G>A	-	IntronicSNV	-	9/15	1
6-20918251-A-G	c.743-37399A>G	-	IntronicSNV	-	9/15	1
6-20920451-G-A	c.743-35199G>A	-	IntronicSNV	-	9/15	1
6-20920979-G-A	c.743-34671G>A	-	IntronicSNV	-	9/15	1
6-20922268-C-T	c.743-33382C>T	-	IntronicSNV	-	9/15	1
6-20922728-G-A	c.743-32922G>A	-	IntronicSNV	-	9/15	1
6-20922863-C-T	c.743-32787C>T	-	IntronicSNV	-	9/15	1
6-20927167-T-G	c.743-28483T>G	-	IntronicSNV	-	9/15	1
6-20929250-T-C	c.743-26400T>C	-	IntronicSNV	-	9/15	1
6-20930113-G-C	c.743-25537G>C	-	IntronicSNV	-	9/15	1
6-20933677-C-T	c.743-21973C>T	-	IntronicSNV	-	9/15	1
6-20937961-G-A	c.743-17689G>A	-	IntronicSNV	-	9/15	1
6-20939380-G-A	c.743-16270G>A	-	IntronicSNV	-	9/15	1
6-20940379-C-T	c.743-15271C>T	-	IntronicSNV	-	9/15	2
6-20941057-C-A	c.743-14593C>A	-	IntronicSNV	-	9/15	1
6-20941057-C-T	c.743-14593C>T	-	IntronicSNV	-	9/15	1
6-20945956-G-C	c.743-9694G>C	-	IntronicSNV	-	9/15	1
6-20945956-G-T	c.743-9694G>T	-	IntronicSNV	-	9/15	1
6-20954826-G-A	c.743-824G>A	-	IntronicSNV	-	9/15	3
6-20954826-G-T	c.743-824G>T	-	IntronicSNV	-	9/15	3
6-20955471-G-A	c.743-179G>A	-	IntronicSNV	-	9/15	1
6-20955652-G-C	c.745G>C	p.G249R	Missense	10/16	-	1
6-20955655-G-A	c.748G>A	p.V250I	Missense	10/16	-	1
6-20955656-T-C	c.749T>C	p.V250A	Missense	10/16	-	4
6-20955663-G-C	c.756G>C	p.E252D	Missense	10/16	-	2
6-20955663-G-T	c.756G>T	p.E252D	Missense	10/16	-	2
6-20955669-G-A	c.762G>A	p.W254*	Nonsense	10/16	-	1
6-20955673-A-T	c.766A>T	p.T256S	Missense	10/16	-	1
6-20955674-C-G	c.767C>G	p.T256S	Missense	10/16	-	2
6-20955676-A-T	c.769A>T	p.S257C	Missense	10/16	-	1
6-20955686-C-T	c.779C>T	p.T260M	Missense	10/16	-	1
6-20955689-G-A	c.782G>A	p.G261E	Missense	10/16	-	1
6-20955697-G-T	c.790G>T	p.G264C	Missense	10/16	-	3
6-20955698-G-A	c.791G>A	p.G264D	Missense	10/16	-	1
6-20955698-G-T	c.791G>T	p.G264V	Missense	10/16	-	1
6-20955701-G-T	c.794G>T	p.R265I	Missense	10/16	-	3
6-20955705-T-C	c.798T>C	p.D266=	Synonymous	10/16	-	1
6-20955710-GC-AG	c.803_804delinsAG	p.G268E	Missense	10/16	-	1
6-20955720-C-T	c.813C>T	p.L271=	Synonymous	10/16	-	1
6-20955722-CC-AA	c.815_816delinsAA	p.P272Q	Missense	10/16	-	2
6-20955722-C-T	c.815C>T	p.P272L	Missense	10/16	-	1
6-20955723-C-T	c.816C>T	p.P272=	Synonymous	10/16	-	1
6-20955725-C-T	c.818C>T	p.T273I	Missense	10/16	-	1
6-20955735-G-A	c.828G>A	p.W276*	Nonsense	10/16	-	1
6-20955746-A-T	c.839A>T	p.E280V	Missense	10/16	-	1
6-20955748-G-A	c.841G>A	p.V281M	Missense	10/16	-	1
6-20955751-A-C	c.844A>C	p.I282L	Missense	10/16	-	1
6-20955757-G-C	c.850G>C	p.E284Q	Missense	10/16	-	1
6-20955760-G-A	c.853G>A	p.G285R	Missense	10/16	-	1
6-20955761-GAGC-G	c.856_858del	p.A286del	InFrameDeletion	10/16	-	1
6-20955772-AGG-TGT	c.865_867delinsTGT	p.R289C	Missense	10/16	-	1
6-20955775-C-G	c.868C>G	p.L290V	Missense	10/16	-	1
6-20955775-C-T	c.868C>T	p.L290F	Missense	10/16	-	2
6-20955778-G-C	c.871G>C	p.G291R	Missense	10/16	-	2
6-20955779-G-C	c.872G>C	p.G291A	Missense	10/16	-	1
6-20955782-T-C	c.875T>C	p.M292T	Missense	10/16	-	1
6-20955783-G-A	c.876G>A	p.M292I	Missense	10/16	-	1
6-20955785-C-A	c.878C>A	p.T293K	Missense	10/16	-	1
6-20955785-C-T	c.878C>T	p.T293I	Missense	10/16	-	2
6-20955790-C-T	c.883C>T	p.P295S	Missense	10/16	-	2
6-20955791-C-T	c.884C>T	p.P295L	Missense	10/16	-	2
6-20955792-G-A	c.885G>A	p.P295=	Synonymous	10/16	-	2
6-20955792-G-C	c.885G>C	p.P295=	Synonymous	10/16	-	1
6-20955792-G-T	c.885G>T	p.P295=	Synonymous	10/16	-	1
6-20955796-T-C	c.889T>C	p.Y297H	Missense	10/16	-	1
6-20955796-T-G	c.889T>G	p.Y297D	Missense	10/16	-	1
6-20955812-T-G	c.905T>G	p.L302R	Missense	10/16	-	1
6-20955817-G-C	c.909+1G>C	-	IntronicSNV	-	10/15	1
6-20955818-T-A	c.909+2T>A	-	IntronicSNV	-	10/15	1
6-20955818-T-G	c.909+2T>G	-	IntronicSNV	-	10/15	1
6-20955838-G-A	c.909+22G>A	-	IntronicSNV	-	10/15	1
6-20955877-C-T	c.909+61C>T	-	IntronicSNV	-	10/15	1
6-20955921-AT-A	c.909+115del	-	IntronicDeletion	-	10/15	1
6-20956130-G-C	c.909+314G>C	-	IntronicSNV	-	10/15	1
6-20957696-G-A	c.909+1880G>A	-	IntronicSNV	-	10/15	1
6-20957979-A-G	c.909+2163A>G	-	IntronicSNV	-	10/15	1
6-20962650-A-G	c.909+6834A>G	-	IntronicSNV	-	10/15	1
6-20966438-C-A	c.909+10622C>A	-	IntronicSNV	-	10/15	1
6-20973652-G-A	c.909+17836G>A	-	IntronicSNV	-	10/15	1
6-20985674-G-A	c.910-14784G>A	-	IntronicSNV	-	10/15	1
6-20986130-C-T	c.910-14328C>T	-	IntronicSNV	-	10/15	1
6-20987675-G-A	c.910-12783G>A	-	IntronicSNV	-	10/15	2
6-20988080-G-A	c.910-12378G>A	-	IntronicSNV	-	10/15	1
6-20990153-G-T	c.910-10305G>T	-	IntronicSNV	-	10/15	1
6-20992650-A-G	c.910-7808A>G	-	IntronicSNV	-	10/15	2
6-20999387-A-G	c.910-1071A>G	-	IntronicSNV	-	10/15	1
6-20999387-A-T	c.910-1071A>T	-	IntronicSNV	-	10/15	1
6-21000228-G-C	c.910-230G>C	-	IntronicSNV	-	10/15	2
6-21000458-G-A	c.910G>A	p.E304K	Missense	11/16	-	1
6-21000460-A-C	c.912A>C	p.E304D	Missense	11/16	-	1
6-21000460-A-T	c.912A>T	p.E304D	Missense	11/16	-	1
6-21000469-A-C	c.921A>C	p.K307N	Missense	11/16	-	1
6-21000469-A-T	c.921A>T	p.K307N	Missense	11/16	-	1
6-21000472-C-A	c.924C>A	p.I308=	Synonymous	11/16	-	1
6-21000472-C-T	c.924C>T	p.I308=	Synonymous	11/16	-	1
6-21000481-C-A	c.933C>A	p.H311Q	Missense	11/16	-	2
6-21000481-C-G	c.933C>G	p.H311Q	Missense	11/16	-	2
6-21000482-C-A	c.934C>A	p.P312T	Missense	11/16	-	1
6-21000483-C-T	c.935C>T	p.P312L	Missense	11/16	-	2
6-21000485-AG-GC	c.937_938delinsGC	p.R313A	Missense	11/16	-	1
6-21000487-A-T	c.939A>T	p.R313S	Missense	11/16	-	1
6-21000492-A-C	c.944A>C	p.Y315S	Missense	11/16	-	1
6-21000493-C-T	c.945C>T	p.Y315=	Synonymous	11/16	-	2
6-21000494-G-A	c.946G>A	p.A316T	Missense	11/16	-	2
6-21000498-T-C	c.950T>C	p.F317S	Missense	11/16	-	1
6-21000510-CA-AT	c.962_963delinsAT	p.P321H	Missense	11/16	-	2
6-21000522-C-T	c.974C>T	p.A325V	Missense	11/16	-	1
6-21000526-C-G	c.978C>G	p.S326=	Synonymous	11/16	-	1
6-21000531-G-T	c.983G>T	p.S328I	Missense	11/16	-	2
6-21000533-G-A	c.985G>A	p.V329I	Missense	11/16	-	1
6-21000533-G-C	c.985G>C	p.V329L	Missense	11/16	-	2
6-21000533-G-T	c.985G>T	p.V329L	Missense	11/16	-	1
6-21000535-A-C	c.987A>C	p.V329=	Synonymous	11/16	-	1
6-21000535-A-G	c.987A>G	p.V329=	Synonymous	11/16	-	4
6-21000535-A-T	c.987A>T	p.V329=	Synonymous	11/16	-	1
6-21000537-CTCATG-C	c.989_993del	p.L330Rfs*10	Frameshift	11/16	-	1
6-21000542-G-T	c.994G>T	p.E332*	Nonsense	11/16	-	1
6-21000546-AT-A	c.998del	p.M333Rfs*13	Frameshift	11/16	-	1
6-21000552-G-T	c.1004G>T	p.R335I	Missense	11/16	-	1
6-21000553-A-T	c.1005A>T	p.R335S	Missense	11/16	-	1
6-21000555-A-G	c.1007A>G	p.E336G	Missense	11/16	-	4
6-21000556-A-G	c.1008A>G	p.E336=	Synonymous	11/16	-	1
6-21000557-T-G	c.1009T>G	p.Y337D	Missense	11/16	-	2
6-21000569-G-A	c.1021G>A	p.D341N	Missense	11/16	-	1
6-21000574-C-G	c.1026C>G	p.F342L	Missense	11/16	-	2
6-21000579-G-C	c.1031G>C	p.R344T	Missense	11/16	-	1
6-21000582-T-G	c.1034T>G	p.V345G	Missense	11/16	-	1
6-21000584-G-C	c.1036G>C	p.V346L	Missense	11/16	-	1
6-21000589-T-A	c.1041T>A	p.D347E	Missense	11/16	-	1
6-21000589-T-G	c.1041T>G	p.D347E	Missense	11/16	-	1
6-21000591-TT-AA	c.1043_1044inv	p.F348*	Nonsense	11/16	-	1
6-21000597-A-G	c.1049A>G	p.K350R	Missense	11/16	-	2
6-21000604-G-C	c.1055+1G>C	-	IntronicSNV	-	11/15	1
6-21000764-G-GTT	c.1055+166_1055+167dup	-	IntronicInsertion	-	11/15	1
6-21000764-G-GT	c.1055+167dup	-	IntronicInsertion	-	11/15	2
6-21001223-A-T	c.1055+620A>T	-	IntronicSNV	-	11/15	1
6-21005146-T-C	c.1055+4543T>C	-	IntronicSNV	-	11/15	1
6-21005346-A-G	c.1055+4743A>G	-	IntronicSNV	-	11/15	1
6-21005346-A-T	c.1055+4743A>T	-	IntronicSNV	-	11/15	1
6-21005874-C-T	c.1055+5271C>T	-	IntronicSNV	-	11/15	1
6-21006662-A-G	c.1055+6059A>G	-	IntronicSNV	-	11/15	1
6-21007887-T-A	c.1055+7284T>A	-	IntronicSNV	-	11/15	1
6-21008153-C-T	c.1055+7550C>T	-	IntronicSNV	-	11/15	2
6-21008739-G-A	c.1055+8136G>A	-	IntronicSNV	-	11/15	1
6-21009108-G-A	c.1055+8505G>A	-	IntronicSNV	-	11/15	1
6-21009888-A-G	c.1055+9285A>G	-	IntronicSNV	-	11/15	1
6-21010568-A-T	c.1055+9965A>T	-	IntronicSNV	-	11/15	1
6-21012904-C-T	c.1055+12301C>T	-	IntronicSNV	-	11/15	1
6-21018184-T-C	c.1055+17581T>C	-	IntronicSNV	-	11/15	1
6-21018514-C-T	c.1055+17911C>T	-	IntronicSNV	-	11/15	2
6-21018655-C-T	c.1055+18052C>T	-	IntronicSNV	-	11/15	2
6-21020525-G-C	c.1055+19922G>C	-	IntronicSNV	-	11/15	1
6-21023816-A-G	c.1055+23213A>G	-	IntronicSNV	-	11/15	2
6-21024102-G-A	c.1055+23499G>A	-	IntronicSNV	-	11/15	1
6-21024714-TA-T	c.1055+24121del	-	IntronicDeletion	-	11/15	1
6-21026099-A-G	c.1055+25496A>G	-	IntronicSNV	-	11/15	1
6-21027479-C-T	c.1055+26876C>T	-	IntronicSNV	-	11/15	1
6-21027761-G-T	c.1055+27158G>T	-	IntronicSNV	-	11/15	1
6-21027792-G-A	c.1055+27189G>A	-	IntronicSNV	-	11/15	1
6-21031079-A-G	c.1055+30476A>G	-	IntronicSNV	-	11/15	1
6-21031501-A-C	c.1055+30898A>C	-	IntronicSNV	-	11/15	1
6-21032016-T-C	c.1055+31413T>C	-	IntronicSNV	-	11/15	1
6-21032669-A-G	c.1055+32066A>G	-	IntronicSNV	-	11/15	2
6-21032682-T-A	c.1055+32079T>A	-	IntronicSNV	-	11/15	1
6-21032682-T-C	c.1055+32079T>C	-	IntronicSNV	-	11/15	1
6-21033965-T-C	c.1056-31314T>C	-	IntronicSNV	-	11/15	1
6-21034656-G-A	c.1056-30623G>A	-	IntronicSNV	-	11/15	1
6-21034656-G-T	c.1056-30623G>T	-	IntronicSNV	-	11/15	1
6-21035815-A-C	c.1056-29464A>C	-	IntronicSNV	-	11/15	1
6-21037614-A-G	c.1056-27665A>G	-	IntronicSNV	-	11/15	1
6-21037940-C-A	c.1056-27339C>A	-	IntronicSNV	-	11/15	1
6-21038835-G-A	c.1056-26444G>A	-	IntronicSNV	-	11/15	2
6-21039284-A-G	c.1056-25995A>G	-	IntronicSNV	-	11/15	1
6-21039284-A-T	c.1056-25995A>T	-	IntronicSNV	-	11/15	1
6-21039951-A-C	c.1056-25328A>C	-	IntronicSNV	-	11/15	1
6-21039951-A-G	c.1056-25328A>G	-	IntronicSNV	-	11/15	1
6-21040345-G-A	c.1056-24934G>A	-	IntronicSNV	-	11/15	1
6-21042160-G-C	c.1056-23119G>C	-	IntronicSNV	-	11/15	1
6-21043047-C-G	c.1056-22232C>G	-	IntronicSNV	-	11/15	2
6-21043852-C-T	c.1056-21427C>T	-	IntronicSNV	-	11/15	1
6-21046035-C-T	c.1056-19244C>T	-	IntronicSNV	-	11/15	1
6-21049533-G-C	c.1056-15746G>C	-	IntronicSNV	-	11/15	1
6-21059037-T-C	c.1056-6242T>C	-	IntronicSNV	-	11/15	3
6-21065284-C-T	c.1061C>T	p.P354L	Missense	12/16	-	3
6-21065287-G-T	c.1064G>T	p.G355V	Missense	12/16	-	1
6-21065293-CT-TG	c.1070_1071delinsTG	p.T357M	Missense	12/16	-	1
6-21065304-G-A	c.1081G>A	p.D361N	Missense	12/16	-	1
6-21065312-C-A	c.1089C>A	p.I363=	Synonymous	12/16	-	1
6-21065317-G-C	c.1094G>C	p.G365A	Missense	12/16	-	1
6-21065322-C-T	c.1099C>T	p.P367S	Missense	12/16	-	2
6-21065326-G-A	c.1103G>A	p.G368E	Missense	12/16	-	2
6-21065326-G-C	c.1103G>C	p.G368A	Missense	12/16	-	5
6-21065328-G-A	c.1105G>A	p.E369K	Missense	12/16	-	1
6-21065344-T-C	c.1121T>C	p.F374S	Missense	12/16	-	1
6-21065354-A-C	c.1131A>C	p.T377=	Synonymous	12/16	-	1
6-21065354-A-G	c.1131A>G	p.T377=	Synonymous	12/16	-	1
6-21065354-A-T	c.1131A>T	p.T377=	Synonymous	12/16	-	1
6-21065357-G-A	c.1134G>A	p.V378=	Synonymous	12/16	-	2
6-21065357-G-C	c.1134G>C	p.V378=	Synonymous	12/16	-	1
6-21065357-G-T	c.1134G>T	p.V378=	Synonymous	12/16	-	1
6-21065361-C-T	c.1138C>T	p.L380F	Missense	12/16	-	3
6-21065364-G-C	c.1141G>C	p.V381L	Missense	12/16	-	5
6-21065365-T-C	c.1142T>C	p.V381A	Missense	12/16	-	4
6-21065367-G-A	c.1144G>A	p.E382K	Missense	12/16	-	1
6-21065370-G-C	c.1147G>C	p.E383Q	Missense	12/16	-	5
6-21065383-C-T	c.1160C>T	p.P387L	Missense	12/16	-	1
6-21065388-C-T	c.1165C>T	p.L389=	Synonymous	12/16	-	1
6-21065390-G-A	c.1167G>A	p.L389=	Synonymous	12/16	-	1
6-21065390-G-C	c.1167G>C	p.L389=	Synonymous	12/16	-	1
6-21065390-G-T	c.1167G>T	p.L389=	Synonymous	12/16	-	1
6-21065397-A-C	c.1174A>C	p.N392H	Missense	12/16	-	1
6-21065406-T-A	c.1183T>A	p.Y395N	Missense	12/16	-	2
6-21065409-CC-AA	c.1186_1187delinsAA	p.P396K	Missense	12/16	-	2
6-21065413-G-A	c.1190G>A	p.R397K	Missense	12/16	-	1
6-21065415-C-T	c.1192C>T	p.P398S	Missense	12/16	-	1
6-21065418-G-A	c.1195G>A	p.G399R	Missense	12/16	-	2
6-21065418-G-C	c.1195G>C	p.G399R	Missense	12/16	-	1
6-21065419-GA-G	c.1198del	p.T400Lfs*13	Frameshift	12/16	-	1
6-21065424-C-G	c.1201C>G	p.P401A	Missense	12/16	-	1
6-21065431-C-CA	c.1213dup	p.M405Nfs*27	Frameshift	12/16	-	2
6-21065440-A-G	c.1217A>G	p.E406G	Missense	12/16	-	1
6-21065445-G-C	c.1222G>C	p.V408L	Missense	12/16	-	1
6-21065449-C-A	c.1226C>A	p.P409Q	Missense	12/16	-	6
6-21065449-C-G	c.1226C>G	p.P409R	Missense	12/16	-	4
6-21065449-C-T	c.1226C>T	p.P409L	Missense	12/16	-	16
6-21065450-A-C	c.1227A>C	p.P409=	Synonymous	12/16	-	1
6-21065450-A-G	c.1227A>G	p.P409=	Synonymous	12/16	-	11
6-21065450-A-T	c.1227A>T	p.P409=	Synonymous	12/16	-	7
6-21065454-C-A	c.1231C>A	p.Q411K	Missense	12/16	-	2
6-21065457-G-A	c.1234G>A	p.V412M	Missense	12/16	-	5
6-21065459-G-A	c.1236G>A	p.V412=	Synonymous	12/16	-	2
6-21065459-G-C	c.1236G>C	p.V412=	Synonymous	12/16	-	1
6-21065787-A-G	c.1236+328A>G	-	IntronicSNV	-	12/15	2
6-21065787-A-T	c.1236+328A>T	-	IntronicSNV	-	12/15	1
6-21065826-T-A	c.1236+367T>A	-	IntronicSNV	-	12/15	2
6-21065826-T-C	c.1236+367T>C	-	IntronicSNV	-	12/15	2
6-21069159-A-C	c.1236+3700A>C	-	IntronicSNV	-	12/15	1
6-21073029-G-A	c.1236+7570G>A	-	IntronicSNV	-	12/15	1
6-21073670-T-C	c.1236+8211T>C	-	IntronicSNV	-	12/15	1
6-21074193-G-A	c.1236+8734G>A	-	IntronicSNV	-	12/15	1
6-21074193-G-T	c.1236+8734G>T	-	IntronicSNV	-	12/15	1
6-21074838-A-AAGGC	c.1236+9379_1236+9380insAGGC	-	IntronicInsertion	-	12/15	2
6-21075175-GT-G	c.1236+9726del	-	IntronicDeletion	-	12/15	1
6-21076048-C-T	c.1236+10589C>T	-	IntronicSNV	-	12/15	3
6-21076267-T-A	c.1236+10808T>A	-	IntronicSNV	-	12/15	1
6-21076267-T-C	c.1236+10808T>C	-	IntronicSNV	-	12/15	1
6-21076770-A-C	c.1236+11311A>C	-	IntronicSNV	-	12/15	2
6-21076791-G-A	c.1236+11332G>A	-	IntronicSNV	-	12/15	1
6-21079573-T-C	c.1236+14114T>C	-	IntronicSNV	-	12/15	1
6-21085336-G-C	c.1236+19877G>C	-	IntronicSNV	-	12/15	1
6-21086785-G-A	c.1236+21326G>A	-	IntronicSNV	-	12/15	1
6-21087160-A-G	c.1237-21472A>G	-	IntronicSNV	-	12/15	1
6-21088856-G-A	c.1237-19776G>A	-	IntronicSNV	-	12/15	1
6-21088856-G-C	c.1237-19776G>C	-	IntronicSNV	-	12/15	1
6-21088856-G-T	c.1237-19776G>T	-	IntronicSNV	-	12/15	1
6-21090622-C-A	c.1237-18010C>A	-	IntronicSNV	-	12/15	2
6-21091960-T-A	c.1237-16672T>A	-	IntronicSNV	-	12/15	1
6-21092825-T-C	c.1237-15807T>C	-	IntronicSNV	-	12/15	1
6-21094974-A-G	c.1237-13658A>G	-	IntronicSNV	-	12/15	1
6-21095142-T-G	c.1237-13490T>G	-	IntronicSNV	-	12/15	1
6-21099352-T-A	c.1237-9280T>A	-	IntronicSNV	-	12/15	1
6-21099352-T-C	c.1237-9280T>C	-	IntronicSNV	-	12/15	1
6-21100044-A-G	c.1237-8588A>G	-	IntronicSNV	-	12/15	1
6-21103825-G-A	c.1237-4807G>A	-	IntronicSNV	-	12/15	1
6-21103825-G-C	c.1237-4807G>C	-	IntronicSNV	-	12/15	1
6-21104159-G-T	c.1237-4473G>T	-	IntronicSNV	-	12/15	1
6-21108114-G-A	c.1237-518G>A	-	IntronicSNV	-	12/15	1
6-21108643-G-C	c.1248G>C	p.R416S	Missense	13/16	-	2
6-21108643-G-T	c.1248G>T	p.R416S	Missense	13/16	-	2
6-21108656-T-G	c.1261T>G	p.S421A	Missense	13/16	-	2
6-21108658-T-A	c.1263T>A	p.S421=	Synonymous	13/16	-	1
6-21108658-T-C	c.1263T>C	p.S421=	Synonymous	13/16	-	1
6-21108658-T-G	c.1263T>G	p.S421=	Synonymous	13/16	-	1
6-21108659-CG-AT	c.1264_1265delinsAT	p.R422M	Missense	13/16	-	2
6-21108659-C-T	c.1264C>T	p.R422W	Missense	13/16	-	5
6-21108660-G-A	c.1265G>A	p.R422Q	Missense	13/16	-	3
6-21108671-T-G	c.1276T>G	p.S426A	Missense	13/16	-	1
6-21108680-C-G	c.1285C>G	p.P429A	Missense	13/16	-	1
6-21108681-C-T	c.1286C>T	p.P429L	Missense	13/16	-	4
6-21108689-C-A	c.1294C>A	p.H432N	Missense	13/16	-	1
6-21108689-C-T	c.1294C>T	p.H432Y	Missense	13/16	-	1
6-21108695-G-A	c.1299+1G>A	-	IntronicSNV	-	13/15	1
6-21108732-G-A	c.1299+38G>A	-	IntronicSNV	-	13/15	1
6-21110407-G-A	c.1299+1713G>A	-	IntronicSNV	-	13/15	1
6-21112223-G-T	c.1299+3529G>T	-	IntronicSNV	-	13/15	1
6-21114182-GA-G	c.1299+5498del	-	IntronicDeletion	-	13/15	1
6-21114345-G-A	c.1299+5651G>A	-	IntronicSNV	-	13/15	1
6-21115209-T-A	c.1299+6515T>A	-	IntronicSNV	-	13/15	1
6-21115209-T-C	c.1299+6515T>C	-	IntronicSNV	-	13/15	1
6-21118239-G-C	c.1299+9545G>C	-	IntronicSNV	-	13/15	1
6-21118239-G-T	c.1299+9545G>T	-	IntronicSNV	-	13/15	1
6-21119130-A-G	c.1299+10436A>G	-	IntronicSNV	-	13/15	1
6-21120723-C-T	c.1299+12029C>T	-	IntronicSNV	-	13/15	1
6-21120769-A-G	c.1299+12075A>G	-	IntronicSNV	-	13/15	1
6-21124521-T-C	c.1299+15827T>C	-	IntronicSNV	-	13/15	2
6-21127312-G-C	c.1299+18618G>C	-	IntronicSNV	-	13/15	1
6-21127312-G-T	c.1299+18618G>T	-	IntronicSNV	-	13/15	1
6-21128064-A-G	c.1299+19370A>G	-	IntronicSNV	-	13/15	1
6-21129926-A-C	c.1299+21232A>C	-	IntronicSNV	-	13/15	1
6-21130870-A-G	c.1299+22176A>G	-	IntronicSNV	-	13/15	1
6-21130870-A-T	c.1299+22176A>T	-	IntronicSNV	-	13/15	1
6-21131312-C-A	c.1299+22618C>A	-	IntronicSNV	-	13/15	1
6-21131312-C-T	c.1299+22618C>T	-	IntronicSNV	-	13/15	1
6-21133694-T-C	c.1299+25000T>C	-	IntronicSNV	-	13/15	1
6-21133705-T-C	c.1299+25011T>C	-	IntronicSNV	-	13/15	1
6-21133859-T-C	c.1299+25165T>C	-	IntronicSNV	-	13/15	1
6-21133912-G-A	c.1299+25218G>A	-	IntronicSNV	-	13/15	1
6-21133992-C-A	c.1299+25298C>A	-	IntronicSNV	-	13/15	1
6-21133992-C-T	c.1299+25298C>T	-	IntronicSNV	-	13/15	1
6-21134471-C-T	c.1299+25777C>T	-	IntronicSNV	-	13/15	1
6-21134478-A-G	c.1299+25784A>G	-	IntronicSNV	-	13/15	1
6-21134492-A-G	c.1299+25798A>G	-	IntronicSNV	-	13/15	1
6-21134684-G-C	c.1299+25990G>C	-	IntronicSNV	-	13/15	1
6-21135158-A-T	c.1299+26464A>T	-	IntronicSNV	-	13/15	1
6-21138978-G-GA	c.1299+30293dup	-	IntronicInsertion	-	13/15	1
6-21140299-A-C	c.1299+31605A>C	-	IntronicSNV	-	13/15	1
6-21140299-A-G	c.1299+31605A>G	-	IntronicSNV	-	13/15	1
6-21140299-A-T	c.1299+31605A>T	-	IntronicSNV	-	13/15	1
6-21140486-A-G	c.1299+31792A>G	-	IntronicSNV	-	13/15	1
6-21141357-C-T	c.1299+32663C>T	-	IntronicSNV	-	13/15	1
6-21142446-A-G	c.1299+33752A>G	-	IntronicSNV	-	13/15	1
6-21144010-T-A	c.1299+35316T>A	-	IntronicSNV	-	13/15	1
6-21144599-G-A	c.1299+35905G>A	-	IntronicSNV	-	13/15	1
6-21145617-AT-A	c.1299+36930del	-	IntronicDeletion	-	13/15	1
6-21146266-T-G	c.1299+37572T>G	-	IntronicSNV	-	13/15	1
6-21147422-AT-A	c.1299+38735del	-	IntronicDeletion	-	13/15	1
6-21148598-TA-T	c.1299+39911del	-	IntronicDeletion	-	13/15	1
6-21149064-A-G	c.1299+40370A>G	-	IntronicSNV	-	13/15	1
6-21150454-G-T	c.1299+41760G>T	-	IntronicSNV	-	13/15	1
6-21150457-G-A	c.1299+41763G>A	-	IntronicSNV	-	13/15	1
6-21154796-G-A	c.1300-43456G>A	-	IntronicSNV	-	13/15	1
6-21155362-A-G	c.1300-42890A>G	-	IntronicSNV	-	13/15	2
6-21155529-G-C	c.1300-42723G>C	-	IntronicSNV	-	13/15	1
6-21156604-G-A	c.1300-41648G>A	-	IntronicSNV	-	13/15	1
6-21157093-A-G	c.1300-41159A>G	-	IntronicSNV	-	13/15	1
6-21157173-C-T	c.1300-41079C>T	-	IntronicSNV	-	13/15	2
6-21160382-G-A	c.1300-37870G>A	-	IntronicSNV	-	13/15	1
6-21160382-G-T	c.1300-37870G>T	-	IntronicSNV	-	13/15	1
6-21160421-G-A	c.1300-37831G>A	-	IntronicSNV	-	13/15	1
6-21160447-C-T	c.1300-37805C>T	-	IntronicSNV	-	13/15	2
6-21160689-C-A	c.1300-37563C>A	-	IntronicSNV	-	13/15	3
6-21163629-T-A	c.1300-34623T>A	-	IntronicSNV	-	13/15	1
6-21163629-T-C	c.1300-34623T>C	-	IntronicSNV	-	13/15	1
6-21163919-T-C	c.1300-34333T>C	-	IntronicSNV	-	13/15	4
6-21164249-C-T	c.1300-34003C>T	-	IntronicSNV	-	13/15	1
6-21165278-G-A	c.1300-32974G>A	-	IntronicSNV	-	13/15	3
6-21165295-A-T	c.1300-32957A>T	-	IntronicSNV	-	13/15	1
6-21166705-A-G	c.1300-31547A>G	-	IntronicSNV	-	13/15	2
6-21176124-G-A	c.1300-22128G>A	-	IntronicSNV	-	13/15	1
6-21177710-T-C	c.1300-20542T>C	-	IntronicSNV	-	13/15	1
6-21177712-T-G	c.1300-20540T>G	-	IntronicSNV	-	13/15	1
6-21178282-T-C	c.1300-19970T>C	-	IntronicSNV	-	13/15	3
6-21182978-A-G	c.1300-15274A>G	-	IntronicSNV	-	13/15	2
6-21183554-C-T	c.1300-14698C>T	-	IntronicSNV	-	13/15	1
6-21184888-A-T	c.1300-13364A>T	-	IntronicSNV	-	13/15	1
6-21185590-A-G	c.1300-12662A>G	-	IntronicSNV	-	13/15	1
6-21188017-C-T	c.1300-10235C>T	-	IntronicSNV	-	13/15	1
6-21189286-G-A	c.1300-8966G>A	-	IntronicSNV	-	13/15	1
6-21189437-C-T	c.1300-8815C>T	-	IntronicSNV	-	13/15	1
6-21191928-A-G	c.1300-6324A>G	-	IntronicSNV	-	13/15	1
6-21198083-G-A	c.1300-169G>A	-	IntronicSNV	-	13/15	2
6-21198255-G-T	c.1303G>T	p.G435C	Missense	14/16	-	2
6-21198262-GACA-G	c.1315_1317del	p.Q439del	InFrameDeletion	14/16	-	1
6-21198267-C-G	c.1315C>G	p.Q439E	Missense	14/16	-	1
6-21198276-GTA-ATG	c.1324_1326delinsATG	p.V442M	Missense	14/16	-	1
6-21198282-G-A	c.1330G>A	p.E444K	Missense	14/16	-	1
6-21198290-T-A	c.1338T>A	p.S446=	Synonymous	14/16	-	1
6-21198290-T-C	c.1338T>C	p.S446=	Synonymous	14/16	-	1
6-21198290-T-G	c.1338T>G	p.S446=	Synonymous	14/16	-	1
6-21198291-T-C	c.1339T>C	p.F447L	Missense	14/16	-	1
6-21198298-C-T	c.1346C>T	p.S449F	Missense	14/16	-	4
6-21198307-A-T	c.1355A>T	p.Y452F	Missense	14/16	-	1
6-21198310-T-C	c.1358T>C	p.V453A	Missense	14/16	-	1
6-21198319-A-G	c.1367A>G	p.N456S	Missense	14/16	-	3
6-21198321-C-G	c.1369C>G	p.Q457E	Missense	14/16	-	1
6-21198324-T-C	c.1372T>C	p.F458L	Missense	14/16	-	1
6-21198326-C-A	c.1374C>A	p.F458L	Missense	14/16	-	1
6-21198326-C-G	c.1374C>G	p.F458L	Missense	14/16	-	1
6-21198334-A-G	c.1382A>G	p.Q461R	Missense	14/16	-	1
6-21200015-T-A	c.1384-1326T>A	-	IntronicSNV	-	14/15	2
6-21200282-A-G	c.1384-1059A>G	-	IntronicSNV	-	14/15	1
6-21200282-A-T	c.1384-1059A>T	-	IntronicSNV	-	14/15	1
6-21200390-T-C	c.1384-951T>C	-	IntronicSNV	-	14/15	1
6-21201348-T-C	c.1391T>C	p.V464A	Missense	15/16	-	1
6-21201348-T-G	c.1391T>G	p.V464G	Missense	15/16	-	1
6-21201351-C-T	c.1394C>T	p.P465L	Missense	15/16	-	1
6-21201359-C-T	c.1402C>T	p.P468S	Missense	15/16	-	1
6-21201363-C-G	c.1406C>G	p.A469G	Missense	15/16	-	1
6-21201369-T-G	c.1412T>G	p.M471R	Missense	15/16	-	6
6-21201371-G-T	c.1414G>T	p.G472W	Missense	15/16	-	1
6-21201374-A-G	c.1417A>G	p.K473E	Missense	15/16	-	1
6-21201376-G-C	c.1419G>C	p.K473N	Missense	15/16	-	1
6-21201376-G-T	c.1419G>T	p.K473N	Missense	15/16	-	1
6-21201378-T-C	c.1421T>C	p.M474T	Missense	15/16	-	1
6-21201383-G-A	c.1426G>A	p.E476K	Missense	15/16	-	1
6-21201394-C-A	c.1437C>A	p.I479=	Synonymous	15/16	-	1
6-21201405-GC-AG	c.1448_1449delinsAG	p.G483E	Missense	15/16	-	1
6-21201408-A-G	c.1451A>G	p.K484R	Missense	15/16	-	2
6-21201410-C-T	c.1453C>T	p.H485Y	Missense	15/16	-	1
6-21201414-T-G	c.1457T>G	p.F486C	Missense	15/16	-	3
6-21201421-A-C	c.1464A>C	p.K488N	Missense	15/16	-	1
6-21201421-A-T	c.1464A>T	p.K488N	Missense	15/16	-	1
6-21201422-GGG-AGC	c.1465_1467delinsAGC	p.G489S	Missense	15/16	-	1
6-21201436-T-A	c.1479T>A	p.S493=	Synonymous	15/16	-	1
6-21201436-T-C	c.1479T>C	p.S493=	Synonymous	15/16	-	1
6-21201436-T-G	c.1479T>G	p.S493=	Synonymous	15/16	-	1
6-21201437-G-C	c.1480G>C	p.D494H	Missense	15/16	-	1
6-21201454-G-A	c.1497G>A	p.T499=	Synonymous	15/16	-	1
6-21201454-G-T	c.1497G>T	p.T499=	Synonymous	15/16	-	1
6-21201460-C-A	c.1503C>A	p.S501=	Synonymous	15/16	-	1
6-21201460-C-G	c.1503C>G	p.S501=	Synonymous	15/16	-	1
6-21201460-C-T	c.1503C>T	p.S501=	Synonymous	15/16	-	1
6-21201472-G-A	c.1515G>A	p.P505=	Synonymous	15/16	-	1
6-21201472-G-C	c.1515G>C	p.P505=	Synonymous	15/16	-	1
6-21201472-G-T	c.1515G>T	p.P505=	Synonymous	15/16	-	1
6-21201481-G-A	c.1524G>A	p.K508=	Synonymous	15/16	-	1
6-21201482-G-A	c.1525G>A	p.G509R	Missense	15/16	-	3
6-21201482-G-C	c.1525G>C	p.G509R	Missense	15/16	-	2
6-21201483-G-A	c.1526G>A	p.G509E	Missense	15/16	-	8
6-21201483-G-C	c.1526G>C	p.G509A	Missense	15/16	-	1
6-21201487-A-C	c.1530A>C	p.E510D	Missense	15/16	-	1
6-21201487-A-T	c.1530A>T	p.E510D	Missense	15/16	-	1
6-21201492-C-T	c.1535C>T	p.S512L	Missense	15/16	-	1
6-21201493-G-A	c.1536G>A	p.S512=	Synonymous	15/16	-	19
6-21201493-G-C	c.1536G>C	p.S512=	Synonymous	15/16	-	3
6-21201493-G-T	c.1536G>T	p.S512=	Synonymous	15/16	-	12
6-21201495-G-C	c.1538G>C	p.G513A	Missense	15/16	-	1
6-21201497-T-A	c.1540T>A	p.L514M	Missense	15/16	-	1
6-21201499-G-A	c.1542G>A	p.L514=	Synonymous	15/16	-	1
6-21201505-G-A	c.1548G>A	p.K516=	Synonymous	15/16	-	2
6-21201505-G-C	c.1548G>C	p.K516N	Missense	15/16	-	1
6-21201505-G-T	c.1548G>T	p.K516N	Missense	15/16	-	1
6-21202645-A-G	c.1548+1140A>G	-	IntronicSNV	-	15/15	1
6-21204796-G-A	c.1548+3291G>A	-	IntronicSNV	-	15/15	1
6-21204822-T-C	c.1548+3317T>C	-	IntronicSNV	-	15/15	1
6-21205388-T-C	c.1548+3883T>C	-	IntronicSNV	-	15/15	1
6-21205456-A-T	c.1548+3951A>T	-	IntronicSNV	-	15/15	1
6-21205771-G-GTTTT	c.1548+4271_1548+4274dup	-	IntronicInsertion	-	15/15	1
6-21205771-G-GTTT	c.1548+4272_1548+4274dup	-	IntronicInsertion	-	15/15	1
6-21205771-G-GTT	c.1548+4273_1548+4274dup	-	IntronicInsertion	-	15/15	1
6-21205771-G-GT	c.1548+4274dup	-	IntronicInsertion	-	15/15	1
6-21208429-G-A	c.1548+6924G>A	-	IntronicSNV	-	15/15	3
6-21210903-C-T	c.1548+9398C>T	-	IntronicSNV	-	15/15	1
6-21211797-C-T	c.1548+10292C>T	-	IntronicSNV	-	15/15	1
6-21213554-G-T	c.1548+12049G>T	-	IntronicSNV	-	15/15	1
6-21213574-A-C	c.1548+12069A>C	-	IntronicSNV	-	15/15	1
6-21215836-G-A	c.1548+14331G>A	-	IntronicSNV	-	15/15	1
6-21217378-T-A	c.1549-13701T>A	-	IntronicSNV	-	15/15	1
6-21218670-C-A	c.1549-12409C>A	-	IntronicSNV	-	15/15	2
6-21218670-C-G	c.1549-12409C>G	-	IntronicSNV	-	15/15	2
6-21219437-G-A	c.1549-11642G>A	-	IntronicSNV	-	15/15	1
6-21222095-G-A	c.1549-8984G>A	-	IntronicSNV	-	15/15	1
6-21222751-T-C	c.1549-8328T>C	-	IntronicSNV	-	15/15	1
6-21223140-C-T	c.1549-7939C>T	-	IntronicSNV	-	15/15	2
6-21224055-T-C	c.1549-7024T>C	-	IntronicSNV	-	15/15	1
6-21224124-C-T	c.1549-6955C>T	-	IntronicSNV	-	15/15	1
6-21224517-G-T	c.1549-6562G>T	-	IntronicSNV	-	15/15	1
6-21225577-G-A	c.1549-5502G>A	-	IntronicSNV	-	15/15	1
6-21228948-C-T	c.1549-2131C>T	-	IntronicSNV	-	15/15	1
6-21230973-A-G	c.1549-106A>G	-	IntronicSNV	-	15/15	1
6-21231007-G-A	c.1549-72G>A	-	IntronicSNV	-	15/15	4
6-21231034-C-G	c.1549-45C>G	-	IntronicSNV	-	15/15	3
6-21231084-C-A	c.1554C>A	p.F518L	Missense	16/16	-	1
6-21231086-G-C	c.1556G>C	p.R519T	Missense	16/16	-	1
6-21231089-A-G	c.1559A>G	p.N520S	Missense	16/16	-	1
6-21231091-G-A	c.1561G>A	p.G521R	Missense	16/16	-	1
6-21231091-G-C	c.1561G>C	p.G521R	Missense	16/16	-	1
6-21231091-G-T	c.1561G>T	p.G521W	Missense	16/16	-	1
6-21231092-G-A	c.1562G>A	p.G521E	Missense	16/16	-	1
6-21231092-G-T	c.1562G>T	p.G521V	Missense	16/16	-	1
6-21231094-C-T	c.1564C>T	p.L522F	Missense	16/16	-	2
6-21231097-G-A	c.1567G>A	p.G523R	Missense	16/16	-	2
6-21231097-G-C	c.1567G>C	p.G523R	Missense	16/16	-	3
6-21231103-C-T	c.1573C>T	p.Q525*	Nonsense	16/16	-	1
6-21231105-G-C	c.1575G>C	p.Q525H	Missense	16/16	-	1
6-21231116-G-A	c.1586G>A	p.G529E	Missense	16/16	-	2
6-21231118-T-A	c.1588T>A	p.S530T	Missense	16/16	-	2
6-21231119-C-T	c.1589C>T	p.S530F	Missense	16/16	-	2
6-21231129-T-A	c.1599T>A	p.S533=	Synonymous	16/16	-	1
6-21231139-C-A	c.1609C>A	p.Q537K	Missense	16/16	-	2
6-21231146-A-G	c.1616A>G	p.D539G	Missense	16/16	-	1
6-21231152-C-T	c.1622C>T	p.A541V	Missense	16/16	-	1
6-21231153-G-A	c.1623G>A	p.A541=	Synonymous	16/16	-	2
6-21231153-G-C	c.1623G>C	p.A541=	Synonymous	16/16	-	2
6-21231153-G-T	c.1623G>T	p.A541=	Synonymous	16/16	-	2
6-21231171-G-A	c.1641G>A	p.L547=	Synonymous	16/16	-	1
6-21231172-C-T	c.1642C>T	p.P548S	Missense	16/16	-	3
6-21231175-A-G	c.1645A>G	p.M549V	Missense	16/16	-	2
6-21231176-T-C	c.1646T>C	p.M549T	Missense	16/16	-	1
6-21231195-C-A	c.1665C>A	p.D555E	Missense	16/16	-	1
6-21231195-C-G	c.1665C>G	p.D555E	Missense	16/16	-	1
6-21231200-C-T	c.1670C>T	p.A557V	Missense	16/16	-	4
6-21231204-G-A	c.1674G>A	p.L558=	Synonymous	16/16	-	1
6-21231207-G-A	c.1677G>A	p.R559=	Synonymous	16/16	-	1
6-21231211-TC-CG	c.1681_1682delinsCG	p.S561R	Missense	16/16	-	1
6-21231212-C-G	c.1682C>G	p.S561C	Missense	16/16	-	1
6-21231212-C-T	c.1682C>T	p.S561F	Missense	16/16	-	1
6-21231213-C-A	c.1683C>A	p.S561=	Synonymous	16/16	-	1
6-21231213-C-G	c.1683C>G	p.S561=	Synonymous	16/16	-	1
6-21231213-C-T	c.1683C>T	p.S561=	Synonymous	16/16	-	2
6-21231214-G-A	c.1684G>A	p.V562M	Missense	16/16	-	1
6-21231214-G-C	c.1684G>C	p.V562L	Missense	16/16	-	1
6-21231214-G-T	c.1684G>T	p.V562L	Missense	16/16	-	1
6-21231226-C-T	c.1696C>T	p.L566=	Synonymous	16/16	-	1
6-21231228-G-A	c.1698G>A	p.L566=	Synonymous	16/16	-	1
6-21231228-G-C	c.1698G>C	p.L566=	Synonymous	16/16	-	1
6-21231228-G-T	c.1698G>T	p.L566=	Synonymous	16/16	-	1
6-21231231-G-T	c.1701G>T	p.L567=	Synonymous	16/16	-	2
6-21231238-C-A	c.1708C>A	p.L570I	Missense	16/16	-	1
6-21231245-C-A	c.1715C>A	p.A572D	Missense	16/16	-	1
6-21231247-T-C	c.1717T>C	p.F573L	Missense	16/16	-	1
6-21231247-T-G	c.1717T>G	p.F573V	Missense	16/16	-	1
6-21231245-C-CT	c.1722dup	p.V575Cfs*5	Frameshift	16/16	-	2
6-21231245-CT-C	c.1722del	p.F574Lfs*39	Frameshift	16/16	-	3
6-21231254-T-G	c.1724T>G	p.V575G	Missense	16/16	-	1
6-21231261-C-A	c.1731C>A	p.V577=	Synonymous	16/16	-	1
6-21231261-C-G	c.1731C>G	p.V577=	Synonymous	16/16	-	1
6-21231261-C-T	c.1731C>T	p.V577=	Synonymous	16/16	-	1
6-21231263-A-G	c.1733A>G	p.Y578C	Missense	16/16	-	2
6-21231474-C-G	c.*204C>G	-	3-UTRSNV	16/16	-	5
6-21231474-C-T	c.*204C>T	-	3-UTRSNV	16/16	-	5
6-21231956-G-A	c.*686G>A	-	3-UTRSNV	16/16	-	1
6-21232223-G-T	c.*953G>T	-	3-UTRSNV	16/16	-	1
6-21232615-A-G	c.*1345A>G	-	3-UTRSNV	16/16	-	2
6-21232615-A-T	c.*1345A>T	-	3-UTRSNV	16/16	-	2