POLR3B

POLR3B RNA polymerase III subunit B

Annotation transcript: NM_018082.6

1374 unique variant annotations were identified in 665 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
12-106751659-T-G	c.2T>G	p.M1?	Missense	1/28	-	1
12-106751665-T-C	c.8T>C	p.V3A	Missense	1/28	-	1
12-106751667-C-T	c.10C>T	p.L4=	Synonymous	1/28	-	1
12-106751669-A-G	c.12A>G	p.L4=	Synonymous	1/28	-	1
12-106751671-C-T	c.14C>T	p.A5V	Missense	1/28	-	1
12-106751673-G-A	c.16G>A	p.E6K	Missense	1/28	-	1
12-106751675-G-T	c.18G>T	p.E6D	Missense	1/28	-	1
12-106751674-AG-A	c.19del	p.E7Sfs*5	Frameshift	1/28	-	1
12-106751682-G-A	c.25G>A	p.G9R	Missense	1/28	-	1
12-106751689-T-C	c.32T>C	p.L11P	Missense	1/28	-	1
12-106751692-C-T	c.35C>T	p.T12I	Missense	1/28	-	1
12-106751694-C-G	c.37C>G	p.P13A	Missense	1/28	-	1
12-106751695-C-T	c.38C>T	p.P13L	Missense	1/28	-	1
12-106751696-G-A	c.39G>A	p.P13=	Synonymous	1/28	-	1
12-106751697-G-A	c.40G>A	p.E14K	Missense	1/28	-	2
12-106751698-A-G	c.41A>G	p.E14G	Missense	1/28	-	1
12-106751699-G-T	c.42G>T	p.E14D	Missense	1/28	-	1
12-106751706-G-A	c.49G>A	p.A17T	Missense	1/28	-	1
12-106751706-GC-CA	c.49_50delinsCA	p.A17Q	Missense	1/28	-	2
12-106751706-GCG-CAT	c.49_51delinsCAT	p.A17H	Missense	1/28	-	1
12-106751707-CG-AC	c.50_51delinsAC	p.A17D	Missense	1/28	-	1
12-106751708-G-A	c.51G>A	p.A17=	Synonymous	1/28	-	1
12-106751708-G-C	c.51G>C	p.A17=	Synonymous	1/28	-	1
12-106751708-G-T	c.51G>T	p.A17=	Synonymous	1/28	-	1
12-106751709-GCG-TTT	c.52_54delinsTTT	p.A18F	Missense	1/28	-	3
12-106751713-C-A	c.56C>A	p.P19Q	Missense	1/28	-	1
12-106751713-C-G	c.56C>G	p.P19R	Missense	1/28	-	1
12-106751717-C-G	c.60C>G	p.I20M	Missense	1/28	-	1
12-106751718-C-A	c.61C>A	p.P21T	Missense	1/28	-	1
12-106751718-CCG-AAC	c.61_63delinsAAC	p.P21N	Missense	1/28	-	1
12-106751718-CCG-TGT	c.61_63delinsTGT	p.P21C	Missense	1/28	-	1
12-106751719-C-A	c.62C>A	p.P21Q	Missense	1/28	-	1
12-106751720-G-A	c.63G>A	p.P21=	Synonymous	1/28	-	1
12-106751720-G-C	c.63G>C	p.P21=	Synonymous	1/28	-	1
12-106751720-G-T	c.63G>T	p.P21=	Synonymous	1/28	-	1
12-106751724-G-A	c.67G>A	p.V23I	Missense	1/28	-	2
12-106751727-AGAGGTCAGTGCCAGGCACGCAGGGAGCGTCAGGGACAAGGATGCGCCCTGAGGGGGCGT-A	c.70_72+56del	-	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	1/28	1/27	1
12-106751727-G-C	c.70G>C	p.E24Q	Missense	1/28	-	3
12-106751734-G-T	c.72+5G>T	-	IntronicSNV	-	1/27	1
12-106751763-A-G	c.72+34A>G	-	IntronicSNV	-	1/27	1
12-106751805-G-A	c.72+76G>A	-	IntronicSNV	-	1/27	5
12-106751868-G-A	c.72+139G>A	-	IntronicSNV	-	1/27	2
12-106751875-C-A	c.72+146C>A	-	IntronicSNV	-	1/27	2
12-106751875-C-G	c.72+146C>G	-	IntronicSNV	-	1/27	2
12-106751875-C-T	c.72+146C>T	-	IntronicSNV	-	1/27	3
12-106751910-GAGTGA-G	c.72+184_72+188del	-	IntronicDeletion	-	1/27	1
12-106757616-A-G	c.73-32A>G	-	IntronicSNV	-	1/27	1
12-106757653-A-G	c.78A>G	p.K26=	Synonymous	2/28	-	1
12-106757655-G-A	c.80G>A	p.W27*	Nonsense	2/28	-	1
12-106757655-G-T	c.80G>T	p.W27L	Missense	2/28	-	1
12-106757656-G-A	c.81G>A	p.W27*	Nonsense	2/28	-	1
12-106757656-G-C	c.81G>C	p.W27C	Missense	2/28	-	1
12-106757656-G-T	c.81G>T	p.W27C	Missense	2/28	-	1
12-106757660-CTG-TTT	c.85_87delinsTTT	p.L29F	Missense	2/28	-	1
12-106757662-G-T	c.87G>T	p.L29=	Synonymous	2/28	-	2
12-106757663-CTT-GAG	c.88_90delinsGAG	p.L30E	Missense	2/28	-	1
12-106757664-T-A	c.89T>A	p.L30H	Missense	2/28	-	1
12-106757666-C-A	c.91C>A	p.P31T	Missense	2/28	-	1
12-106757666-C-T	c.91C>T	p.P31S	Missense	2/28	-	1
12-106757669-G-A	c.94G>A	p.A32T	Missense	2/28	-	1
12-106757669-GC-AT	c.94_95delinsAT	p.A32I	Missense	2/28	-	1
12-106757670-C-A	c.95C>A	p.A32E	Missense	2/28	-	1
12-106757672-TT-GC	c.97_98delinsGC	p.F33A	Missense	2/28	-	1
12-106757675-TT-GA	c.100_101delinsGA	p.L34E	Missense	2/28	-	1
12-106757677-A-C	c.102A>C	p.L34F	Missense	2/28	-	1
12-106757677-A-T	c.102A>T	p.L34F	Missense	2/28	-	1
12-106757678-A-C	c.103A>C	p.K35Q	Missense	2/28	-	1
12-106757680-G-A	c.105G>A	p.K35=	Synonymous	2/28	-	1
12-106760294-G-C	c.106G>C	p.V36L	Missense	3/28	-	1
12-106760296-G-A	c.108G>A	p.V36=	Synonymous	3/28	-	1
12-106760300-G-T	c.112G>T	p.G38C	Missense	3/28	-	4
12-106760301-G-T	c.113G>T	p.G38V	Missense	3/28	-	1
12-106760303-CTT-GAG	c.115_117delinsGAG	p.L39E	Missense	3/28	-	1
12-106760306-G-A	c.118G>A	p.V40M	Missense	3/28	-	1
12-106760309-A-T	c.121A>T	p.K41*	Nonsense	3/28	-	1
12-106760311-A-G	c.123A>G	p.K41=	Synonymous	3/28	-	1
12-106760313-A-C	c.125A>C	p.Q42P	Missense	3/28	-	1
12-106760314-G-C	c.126G>C	p.Q42H	Missense	3/28	-	2
12-106760315-CA-AT	c.127_128delinsAT	p.H43I	Missense	3/28	-	1
12-106760315-CA-GC	c.127_128delinsGC	p.H43A	Missense	3/28	-	5
12-106760315-CA-GG	c.127_128delinsGG	p.H43G	Missense	3/28	-	1
12-106760315-CA-TG	c.127_128inv	p.H43C	Missense	3/28	-	2
12-106760315-CAT-GAG	c.127_129delinsGAG	p.H43E	Missense	3/28	-	1
12-106760315-CA-TT	c.127_128delinsTT	p.H43F	Missense	3/28	-	1
12-106760315-C-G	c.127C>G	p.H43D	Missense	3/28	-	1
12-106760316-A-G	c.128A>G	p.H43R	Missense	3/28	-	1
12-106760317-T-C	c.129T>C	p.H43=	Synonymous	3/28	-	2
12-106760318-ATA-TGT	c.130_132delinsTGT	p.I44C	Missense	3/28	-	1
12-106760320-A-G	c.132A>G	p.I44M	Missense	3/28	-	1
12-106760322-A-G	c.134A>G	p.D45G	Missense	3/28	-	1
12-106760325-C-T	c.137C>T	p.S46L	Missense	3/28	-	2
12-106760326-CATTTAA-C	c.138_143del	p.F47_N48del	InFrameDeletion	3/28	-	1
12-106760337-T-G	c.149T>G	p.F50C	Missense	3/28	-	1
12-106760338-C-T	c.150C>T	p.F50=	Synonymous	3/28	-	1
12-106760342-A-G	c.154A>G	p.N52D	Missense	3/28	-	1
12-106760342-A-T	c.154A>T	p.N52Y	Missense	3/28	-	1
12-106760348-G-C	c.160G>C	p.E54Q	Missense	3/28	-	1
12-106760435-G-GA	c.163dup	p.I55Nfs*9	SpliceAcceptorInsertion	4/28	-	1
12-106760438-TAAA-T	c.165_167del	p.I55_K56delinsM	MultiAAMissense	4/28	-	1
12-106760441-G-C	c.168G>C	p.K56N	Missense	4/28	-	1
12-106760441-G-T	c.168G>T	p.K56N	Missense	4/28	-	1
12-106760442-A-G	c.169A>G	p.K57E	Missense	4/28	-	1
12-106760443-A-T	c.170A>T	p.K57M	Missense	4/28	-	1
12-106760445-A-T	c.172A>T	p.I58L	Missense	4/28	-	1
12-106760446-TA-AC	c.173_174delinsAC	p.I58N	Missense	4/28	-	1
12-106760446-TAATG-T	c.176_179del	p.M59Kfs*16	Frameshift	4/28	-	1
12-106760450-G-A	c.177G>A	p.M59I	Missense	4/28	-	1
12-106760450-G-C	c.177G>C	p.M59I	Missense	4/28	-	1
12-106760450-G-T	c.177G>T	p.M59I	Missense	4/28	-	2
12-106760451-A-C	c.178A>C	p.K60Q	Missense	4/28	-	1
12-106760451-A-G	c.178A>G	p.K60E	Missense	4/28	-	1
12-106760455-C-A	c.182C>A	p.A61D	Missense	4/28	-	1
12-106760455-C-T	c.182C>T	p.A61V	Missense	4/28	-	1
12-106760456-C-A	c.183C>A	p.A61=	Synonymous	4/28	-	1
12-106760456-C-G	c.183C>G	p.A61=	Synonymous	4/28	-	1
12-106760456-C-T	c.183C>T	p.A61=	Synonymous	4/28	-	1
12-106760457-A-G	c.184A>G	p.N62D	Missense	4/28	-	1
12-106760460-G-C	c.187G>C	p.E63Q	Missense	4/28	-	1
12-106760461-A-G	c.188A>G	p.E63G	Missense	4/28	-	2
12-106760462-A-T	c.189A>T	p.E63D	Missense	4/28	-	1
12-106760464-A-G	c.191A>G	p.K64R	Missense	4/28	-	1
12-106760473-G-A	c.200G>A	p.S67N	Missense	4/28	-	1
12-106760475-G-C	c.202G>C	p.D68H	Missense	4/28	-	1
12-106760481-G-A	c.208G>A	p.D70N	Missense	4/28	-	1
12-106760481-GAC-ATG	c.208_210delinsATG	p.D70M	Missense	4/28	-	1
12-106760481-G-C	c.208G>C	p.D70H	Missense	4/28	-	1
12-106760485-C-T	c.212C>T	p.P71L	Missense	4/28	-	1
12-106760487-A-G	c.214A>G	p.M72V	Missense	4/28	-	1
12-106760491-G-A	c.218G>A	p.W73*	Nonsense	4/28	-	1
12-106760491-G-T	c.218G>T	p.W73L	Missense	4/28	-	2
12-106760496-T-C	c.223T>C	p.L75=	Synonymous	4/28	-	1
12-106760497-TA-GG	c.224_225delinsGG	p.L75W	Missense	4/28	-	1
12-106760499-A-C	c.226A>C	p.K76Q	Missense	4/28	-	1
12-106760501-G-A	c.227+1G>A	-	IntronicSNV	-	4/27	2
12-106760546-A-AT	c.227+52dup	-	IntronicInsertion	-	4/27	1
12-106762673-T-G	c.228-380T>G	-	IntronicSNV	-	4/27	1
12-106762765-A-G	c.228-288A>G	-	IntronicSNV	-	4/27	2
12-106762765-A-T	c.228-288A>T	-	IntronicSNV	-	4/27	2
12-106762882-C-G	c.228-171C>G	-	IntronicSNV	-	4/27	1
12-106762882-C-T	c.228-171C>T	-	IntronicSNV	-	4/27	1
12-106763013-C-T	c.228-40C>T	-	IntronicSNV	-	4/27	2
12-106763054-T-C	c.229T>C	p.Y77H	Missense	5/28	-	1
12-106763063-A-T	c.238A>T	p.I80F	Missense	5/28	-	1
12-106763064-T-C	c.239T>C	p.I80T	Missense	5/28	-	1
12-106763066-T-G	c.241T>G	p.Y81D	Missense	5/28	-	1
12-106763067-A-G	c.242A>G	p.Y81C	Missense	5/28	-	1
12-106763069-G-A	c.244G>A	p.V82I	Missense	5/28	-	1
12-106763069-G-T	c.244G>T	p.V82F	Missense	5/28	-	4
12-106763070-T-C	c.245T>C	p.V82A	Missense	5/28	-	1
12-106763072-G-T	c.247G>T	p.G83W	Missense	5/28	-	3
12-106763075-C-T	c.250C>T	p.L84F	Missense	5/28	-	1
12-106763079-C-T	c.254C>T	p.P85L	Missense	5/28	-	1
12-106763080-T-A	c.255T>A	p.P85=	Synonymous	5/28	-	1
12-106763080-T-C	c.255T>C	p.P85=	Synonymous	5/28	-	1
12-106763080-T-G	c.255T>G	p.P85=	Synonymous	5/28	-	1
12-106763082-GAT-G	c.257_258del	p.D86Gfs*2	Frameshift	5/28	-	1
12-106763084-G-C	c.259G>C	p.V87L	Missense	5/28	-	1
12-106763087-G-A	c.262G>A	p.E88K	Missense	5/28	-	1
12-106763092-A-C	c.267A>C	p.E89D	Missense	5/28	-	1
12-106763092-A-T	c.267A>T	p.E89D	Missense	5/28	-	1
12-106763090-GA-G	c.268del	p.S90Afs*4	Frameshift	5/28	-	1
12-106763094-G-C	c.269G>C	p.S90T	Missense	5/28	-	1
12-106763100-A-G	c.275A>G	p.N92S	Missense	5/28	-	2
12-106763101-T-A	c.276T>A	p.N92K	Missense	5/28	-	1
12-106763102-G-T	c.277G>T	p.V93L	Missense	5/28	-	1
12-106763112-C-T	c.287C>T	p.P96L	Missense	5/28	-	1
12-106763117-T-G	c.292T>G	p.S98A	Missense	5/28	-	1
12-106763118-C-T	c.293C>T	p.S98F	Missense	5/28	-	1
12-106763121-C-T	c.296C>T	p.P99L	Missense	5/28	-	1
12-106763126-GA-TC	c.301_302inv	p.E101S	Missense	5/28	-	1
12-106763129-G-A	c.303+1G>A	-	IntronicSNV	-	5/27	1
12-106763141-C-G	c.303+13C>G	-	IntronicSNV	-	5/27	1
12-106763221-TG-T	c.303+101del	-	IntronicDeletion	-	5/27	1
12-106763268-A-G	c.304-93A>G	-	IntronicSNV	-	5/27	2
12-106763361-T-A	c.304T>A	p.C102S	Missense	6/28	-	2
12-106763361-TG-AC	c.304_305delinsAC	p.C102T	Missense	6/28	-	1
12-106763361-TG-GC	c.304_305delinsGC	p.C102A	Missense	6/28	-	3
12-106763362-G-C	c.305G>C	p.C102S	Missense	6/28	-	2
12-106763362-G-T	c.305G>T	p.C102F	Missense	6/28	-	1
12-106763364-C-T	c.307C>T	p.R103C	Missense	6/28	-	2
12-106763365-G-A	c.308G>A	p.R103H	Missense	6/28	-	14
12-106763365-G-T	c.308G>T	p.R103L	Missense	6/28	-	1
12-106763367-TTG-ATC	c.310_312delinsATC	p.L104I	Missense	6/28	-	1
12-106763369-G-C	c.312G>C	p.L104F	Missense	6/28	-	2
12-106763369-G-T	c.312G>T	p.L104F	Missense	6/28	-	2
12-106763370-AGA-TGT	c.313_315delinsTGT	p.R105C	Missense	6/28	-	1
12-106763372-A-G	c.315A>G	p.R105=	Synonymous	6/28	-	1
12-106763376-A-G	c.319A>G	p.M107V	Missense	6/28	-	1
12-106763378-G-T	c.321G>T	p.M107I	Missense	6/28	-	1
12-106763382-T-G	c.325T>G	p.Y109D	Missense	6/28	-	1
12-106763383-A-G	c.326A>G	p.Y109C	Missense	6/28	-	1
12-106763386-C-G	c.329C>G	p.S110C	Missense	6/28	-	1
12-106763386-C-T	c.329C>T	p.S110F	Missense	6/28	-	1
12-106763388-G-T	c.331G>T	p.A111S	Missense	6/28	-	1
12-106763389-CC-AG	c.332_333delinsAG	p.A111E	Missense	6/28	-	1
12-106763392-CT-AA	c.335_336delinsAA	p.P112Q	Missense	6/28	-	1
12-106763396-T-G	c.339T>G	p.I113M	Missense	6/28	-	1
12-106763401-T-A	c.344T>A	p.V115E	Missense	6/28	-	1
12-106763407-T-C	c.350T>C	p.I117T	Missense	6/28	-	1
12-106763408-T-A	c.351T>A	p.I117=	Synonymous	6/28	-	1
12-106763408-T-C	c.351T>C	p.I117=	Synonymous	6/28	-	1
12-106763410-A-G	c.353A>G	p.E118G	Missense	6/28	-	1
12-106763412-T-C	c.355T>C	p.Y119H	Missense	6/28	-	1
12-106763416-C-T	c.359C>T	p.T120I	Missense	6/28	-	1
12-106763417-C-A	c.360C>A	p.T120=	Synonymous	6/28	-	1
12-106763417-C-T	c.360C>T	p.T120=	Synonymous	6/28	-	1
12-106763418-C-T	c.361C>T	p.R121*	Nonsense	6/28	-	1
12-106763419-G-A	c.362G>A	p.R121Q	Missense	6/28	-	2
12-106763421-G-A	c.364G>A	p.G122S	Missense	6/28	-	1
12-106763421-GG-AC	c.364_365delinsAC	p.G122T	Missense	6/28	-	1
12-106763423-C-A	c.366C>A	p.G122=	Synonymous	6/28	-	2
12-106763423-C-G	c.366C>G	p.G122=	Synonymous	6/28	-	1
12-106763423-C-T	c.366C>T	p.G122=	Synonymous	6/28	-	1
12-106763424-AG-CC	c.367_368delinsCC	p.S123P	Missense	6/28	-	1
12-106763428-A-G	c.371A>G	p.Q124R	Missense	6/28	-	1
12-106763430-AG-CA	c.373_374delinsCA	p.R125Q	Missense	6/28	-	1
12-106763431-G-A	c.374G>A	p.R125K	Missense	6/28	-	1
12-106763432-G-C	c.375G>C	p.R125S	Missense	6/28	-	1
12-106763432-G-T	c.375G>T	p.R125S	Missense	6/28	-	1
12-106763434-T-C	c.377T>C	p.I126T	Missense	6/28	-	1
12-106763437-T-A	c.380T>A	p.I127N	Missense	6/28	-	1
12-106763438-C-A	c.381C>A	p.I127=	Synonymous	6/28	-	1
12-106763438-C-T	c.381C>T	p.I127=	Synonymous	6/28	-	1
12-106763439-CGC-AAG	c.382_384delinsAAG	p.R128K	Missense	6/28	-	1
12-106763443-A-G	c.386A>G	p.N129S	Missense	6/28	-	1
12-106763444-T-A	c.387T>A	p.N129K	Missense	6/28	-	1
12-106763452-C-A	c.395C>A	p.P132H	Missense	6/28	-	1
12-106763452-C-G	c.395C>G	p.P132R	Missense	6/28	-	1
12-106763454-AT-TG	c.397_398delinsTG	p.I133C	Missense	6/28	-	1
12-106763456-C-T	c.399C>T	p.I133=	Synonymous	6/28	-	3
12-106763457-G-A	c.400G>A	p.G134S	Missense	6/28	-	1
12-106763458-G-T	c.401G>T	p.G134V	Missense	6/28	-	1
12-106763461-G-A	c.404G>A	p.R135K	Missense	6/28	-	1
12-106763477-C-A	c.404+16C>A	-	IntronicSNV	-	6/27	1
12-106763728-G-A	c.404+267G>A	-	IntronicSNV	-	6/27	1
12-106765452-T-C	c.404+1991T>C	-	IntronicSNV	-	6/27	1
12-106770139-T-C	c.407T>C	p.M136T	Missense	7/28	-	1
12-106770142-C-T	c.410C>T	p.P137L	Missense	7/28	-	1
12-106770146-A-C	c.414A>C	p.I138=	Synonymous	7/28	-	1
12-106770146-A-T	c.414A>T	p.I138=	Synonymous	7/28	-	1
12-106770148-T-C	c.416T>C	p.M139T	Missense	7/28	-	3
12-106770153-CGT-AAG	c.421_423delinsAAG	p.R141K	Missense	7/28	-	1
12-106770154-G-A	c.422G>A	p.R141H	Missense	7/28	-	5
12-106770154-GT-AA	c.422_423delinsAA	p.R141Q	Missense	7/28	-	1
12-106770156-AG-CT	c.424_425inv	p.S142L	Missense	7/28	-	1
12-106770164-C-G	c.432C>G	p.N144K	Missense	7/28	-	1
12-106770165-TG-GC	c.433_434delinsGC	p.C145A	Missense	7/28	-	3
12-106770171-C-T	c.439C>T	p.L147F	Missense	7/28	-	1
12-106770177-G-A	c.445G>A	p.G149R	Missense	7/28	-	5
12-106770177-GG-AC	c.445_446delinsAC	p.G149T	Missense	7/28	-	1
12-106770182-A-C	c.450A>C	p.K150N	Missense	7/28	-	1
12-106770184-CG-TC	c.452_453delinsTC	p.T151I	Missense	7/28	-	1
12-106770184-C-T	c.452C>T	p.T151M	Missense	7/28	-	6
12-106770185-G-A	c.453G>A	p.T151=	Synonymous	7/28	-	1
12-106770185-G-C	c.453G>C	p.T151=	Synonymous	7/28	-	1
12-106770185-G-T	c.453G>T	p.T151=	Synonymous	7/28	-	1
12-106770186-C-T	c.454C>T	p.P152S	Missense	7/28	-	1
12-106770187-C-G	c.455C>G	p.P152R	Missense	7/28	-	1
12-106770192-G-T	c.460G>T	p.E154*	Nonsense	7/28	-	2
12-106770195-T-C	c.463T>C	p.F155L	Missense	7/28	-	2
12-106770197-T-A	c.465T>A	p.F155L	Missense	7/28	-	2
12-106770197-T-G	c.465T>G	p.F155L	Missense	7/28	-	2
12-106770199-C-T	c.467C>T	p.A156V	Missense	7/28	-	1
12-106770201-A-C	c.469A>C	p.K157Q	Missense	7/28	-	1
12-106770202-A-C	c.470A>C	p.K157T	Missense	7/28	-	1
12-106770204-C-T	c.472C>T	p.L158=	Synonymous	7/28	-	1
12-106770206-G-A	c.474G>A	p.L158=	Synonymous	7/28	-	1
12-106770206-G-C	c.474G>C	p.L158=	Synonymous	7/28	-	2
12-106770206-G-T	c.474G>T	p.L158=	Synonymous	7/28	-	1
12-106770216-C-G	c.484C>G	p.P162A	Missense	7/28	-	2
12-106770219-T-G	c.487T>G	p.L163V	Missense	7/28	-	1
12-106770228-G-T	c.496G>T	p.G166C	Missense	7/28	-	1
12-106770229-G-A	c.496+1G>A	-	IntronicSNV	-	7/27	1
12-106770270-T-C	c.496+42T>C	-	IntronicSNV	-	7/27	1
12-106770407-C-T	c.496+179C>T	-	IntronicSNV	-	7/27	1
12-106771935-A-G	c.497-110A>G	-	IntronicSNV	-	7/27	1
12-106772045-G-A	c.497G>A	p.G166D	Missense	8/28	-	1
12-106772045-GT-AG	c.497_498delinsAG	p.G166E	Missense	8/28	-	1
12-106772045-G-GT	c.498dup	p.G167Wfs*6	SpliceAcceptorInsertion	8/28	-	1
12-106772047-G-A	c.499G>A	p.G167S	Missense	8/28	-	1
12-106772048-G-T	c.500G>T	p.G167V	Missense	8/28	-	1
12-106772053-T-C	c.505T>C	p.F169L	Missense	8/28	-	1
12-106772055-C-G	c.507C>G	p.F169L	Missense	8/28	-	1
12-106772055-C-A	c.507C>A	p.F169L	Missense	8/28	-	3
12-106772055-C-T	c.507C>T	p.F169=	Synonymous	8/28	-	1
12-106772056-A-G	c.508A>G	p.I170V	Missense	8/28	-	3
12-106772059-G-A	c.511G>A	p.V171I	Missense	8/28	-	1
12-106772059-G-C	c.511G>C	p.V171L	Missense	8/28	-	1
12-106772061-T-C	c.513T>C	p.V171=	Synonymous	8/28	-	1
12-106772061-T-G	c.513T>G	p.V171=	Synonymous	8/28	-	3
12-106772062-A-T	c.514A>T	p.K172*	Nonsense	8/28	-	1
12-106772074-A-G	c.526A>G	p.K176E	Missense	8/28	-	3
12-106772075-A-G	c.527A>G	p.K176R	Missense	8/28	-	1
12-106772077-G-T	c.529G>T	p.V177F	Missense	8/28	-	1
12-106772083-C-A	c.535C>A	p.L179I	Missense	8/28	-	1
12-106772083-CTT-ATG	c.535_537delinsATG	p.L179M	Missense	8/28	-	1
12-106772086-TA-T	c.538del	p.I180Sfs*39	Frameshift	8/28	-	1
12-106772089-C-T	c.541C>T	p.Q181*	Nonsense	8/28	-	1
12-106772091-A-C	c.543A>C	p.Q181H	Missense	8/28	-	3
12-106772091-A-G	c.543A>G	p.Q181=	Synonymous	8/28	-	1
12-106772091-A-T	c.543A>T	p.Q181H	Missense	8/28	-	2
12-106772092-G-A	c.544G>A	p.E182K	Missense	8/28	-	2
12-106772092-G-C	c.544G>C	p.E182Q	Missense	8/28	-	3
12-106772092-G-T	c.544G>T	p.E182*	Nonsense	8/28	-	1
12-106772093-A-G	c.545A>G	p.E182G	Missense	8/28	-	1
12-106772099-TG-AT	c.551_552delinsAT	p.L184H	Missense	8/28	-	1
12-106772106-G-C	c.558G>C	p.K186N	Missense	8/28	-	1
12-106772106-G-T	c.558G>T	p.K186N	Missense	8/28	-	1
12-106772108-A-C	c.560A>C	p.N187T	Missense	8/28	-	1
12-106772115-C-G	c.567C>G	p.I189M	Missense	8/28	-	3
12-106772115-C-T	c.567C>T	p.I189=	Synonymous	8/28	-	2
12-106772117-T-A	c.569T>A	p.I190N	Missense	8/28	-	1
12-106772118-C-T	c.570C>T	p.I190=	Synonymous	8/28	-	4
12-106772119-G-A	c.571G>A	p.V191M	Missense	8/28	-	1
12-106772119-G-C	c.571G>C	p.V191L	Missense	8/28	-	1
12-106772119-GTG-ATC	c.571_573delinsATC	p.V191I	Missense	8/28	-	1
12-106772122-G-A	c.574G>A	p.E192K	Missense	8/28	-	1
12-106772132-G-A	c.584G>A	p.R195K	Missense	8/28	-	4
12-106772134-A-C	c.586A>C	p.K196Q	Missense	8/28	-	1
12-106772136-A-T	c.588A>T	p.K196N	Missense	8/28	-	1
12-106772140-G-T	c.592G>T	p.A198S	Missense	8/28	-	1
12-106772152-TC-GG	c.604_605delinsGG	p.S202G	Missense	8/28	-	1
12-106772153-CA-TT	c.605_606delinsTT	p.S202F	Missense	8/28	-	1
12-106772153-C-T	c.605C>T	p.S202L	Missense	8/28	-	1
12-106772156-T-G	c.608T>G	p.V203G	Missense	8/28	-	1
12-106772157-T-A	c.609T>A	p.V203=	Synonymous	8/28	-	1
12-106772157-T-C	c.609T>C	p.V203=	Synonymous	8/28	-	1
12-106772157-T-G	c.609T>G	p.V203=	Synonymous	8/28	-	1
12-106772160-C-A	c.612C>A	p.T204=	Synonymous	8/28	-	1
12-106772161-A-C	c.613A>C	p.S205R	Missense	8/28	-	1
12-106772221-G-A	c.614+59G>A	-	IntronicSNV	-	8/27	1
12-106772414-G-A	c.614+252G>A	-	IntronicSNV	-	8/27	1
12-106773676-A-C	c.615-133A>C	-	IntronicSNV	-	8/27	1
12-106773809-C-T	c.615C>T	p.S205=	Synonymous	9/28	-	1
12-106773811-C-G	c.617C>G	p.S206C	Missense	9/28	-	1
12-106773813-A-C	c.619A>C	p.T207P	Missense	9/28	-	1
12-106773813-A-G	c.619A>G	p.T207A	Missense	9/28	-	1
12-106773814-C-T	c.620C>T	p.T207I	Missense	9/28	-	2
12-106773816-C-T	c.622C>T	p.H208Y	Missense	9/28	-	1
12-106773822-A-C	c.628A>C	p.K210Q	Missense	9/28	-	1
12-106773825-A-C	c.631A>C	p.K211Q	Missense	9/28	-	1
12-106773826-A-C	c.632A>C	p.K211T	Missense	9/28	-	1
12-106773827-A-AT	c.633_634insT	p.S212*	Nonsense	9/28	-	1
12-106773821-G-GA	c.634dup	p.S212Kfs*17	Frameshift	9/28	-	1
12-106773828-AG-CC	c.634_635delinsCC	p.S212P	Missense	9/28	-	1
12-106773829-G-A	c.635G>A	p.S212N	Missense	9/28	-	1
12-106773831-A-G	c.637A>G	p.R213G	Missense	9/28	-	2
12-106773832-G-A	c.638G>A	p.R213K	Missense	9/28	-	1
12-106773842-G-T	c.648G>T	p.M216I	Missense	9/28	-	1
12-106773843-G-A	c.649G>A	p.A217T	Missense	9/28	-	1
12-106773843-G-T	c.649G>T	p.A217S	Missense	9/28	-	1
12-106773845-T-A	c.651T>A	p.A217=	Synonymous	9/28	-	2
12-106773845-T-C	c.651T>C	p.A217=	Synonymous	9/28	-	3
12-106773845-T-G	c.651T>G	p.A217=	Synonymous	9/28	-	2
12-106773848-G-A	c.654G>A	p.V218=	Synonymous	9/28	-	1
12-106773850-A-G	c.656A>G	p.K219R	Missense	9/28	-	1
12-106773852-C-A	c.658C>A	p.Q220K	Missense	9/28	-	1
12-106773858-C-G	c.664C>G	p.R222G	Missense	9/28	-	1
12-106773858-CGA-TGT	c.664_666delinsTGT	p.R222C	Missense	9/28	-	1
12-106773858-C-T	c.664C>T	p.R222*	Nonsense	9/28	-	4
12-106773859-G-A	c.665G>A	p.R222Q	Missense	9/28	-	3
12-106773871-G-A	c.677G>A	p.R226K	Missense	9/28	-	2
12-106773880-CT-TG	c.686_687delinsTG	p.T229M	Missense	9/28	-	1
12-106773880-C-CT	c.689dup	p.L230Ffs*12	Frameshift	9/28	-	1
12-106773884-G-C	c.690G>C	p.L230F	Missense	9/28	-	1
12-106773884-G-T	c.690G>T	p.L230F	Missense	9/28	-	1
12-106773885-TCA-AAC	c.691_693delinsAAC	p.S231N	Missense	9/28	-	1
12-106773885-TC-AG	c.691_692delinsAG	p.S231R	Missense	9/28	-	1
12-106773885-TC-AT	c.691_692delinsAT	p.S231I	Missense	9/28	-	1
12-106773888-G-C	c.694G>C	p.E232Q	Missense	9/28	-	1
12-106773889-A-T	c.695A>T	p.E232V	Missense	9/28	-	1
12-106773900-A-G	c.706A>G	p.I236V	Missense	9/28	-	2
12-106773903-G-A	c.709G>A	p.V237I	Missense	9/28	-	1
12-106773906-A-G	c.712A>G	p.I238V	Missense	9/28	-	1
12-106773906-A-T	c.712A>T	p.I238F	Missense	9/28	-	1
12-106773907-T-C	c.713T>C	p.I238T	Missense	9/28	-	1
12-106773903-GTCA-G	c.714_716del	p.I239del	InFrameDeletion	9/28	-	1
12-106773910-T-C	c.716T>C	p.I239T	Missense	9/28	-	2
12-106773915-A-C	c.721A>C	p.K241Q	Missense	9/28	-	1
12-106785502-T-C	c.724-1307T>C	-	IntronicSNV	-	9/27	1
12-106785554-T-C	c.724-1255T>C	-	IntronicSNV	-	9/27	5
12-106786810-C-T	c.725C>T	p.A242V	Missense	10/28	-	1
12-106786816-G-A	c.731G>A	p.G244D	Missense	10/28	-	1
12-106786821-G-A	c.736G>A	p.E246K	Missense	10/28	-	2
12-106786824-A-C	c.739A>C	p.S247R	Missense	10/28	-	1
12-106786826-T-A	c.741T>A	p.S247R	Missense	10/28	-	1
12-106786826-T-G	c.741T>G	p.S247R	Missense	10/28	-	1
12-106786827-G-C	c.742G>C	p.D248H	Missense	10/28	-	1
12-106786828-A-G	c.743A>G	p.D248G	Missense	10/28	-	1
12-106786831-A-C	c.746A>C	p.Q249P	Missense	10/28	-	1
12-106786832-G-A	c.747G>A	p.Q249=	Synonymous	10/28	-	1
12-106786835-A-C	c.750A>C	p.E250D	Missense	10/28	-	2
12-106786835-A-T	c.750A>T	p.E250D	Missense	10/28	-	2
12-106786836-A-C	c.751A>C	p.I251L	Missense	10/28	-	1
12-106786837-T-C	c.752T>C	p.I251T	Missense	10/28	-	1
12-106786838-T-C	c.753T>C	p.I251=	Synonymous	10/28	-	1
12-106786839-GTG-ATC	c.754_756delinsATC	p.V252I	Missense	10/28	-	1
12-106786840-T-C	c.755T>C	p.V252A	Missense	10/28	-	1
12-106786841-G-A	c.756G>A	p.V252=	Synonymous	10/28	-	1
12-106786841-G-C	c.756G>C	p.V252=	Synonymous	10/28	-	1
12-106786841-G-T	c.756G>T	p.V252=	Synonymous	10/28	-	2
12-106786855-C-A	c.770C>A	p.T257K	Missense	10/28	-	1
12-106786857-G-C	c.772G>C	p.E258Q	Missense	10/28	-	1
12-106786858-A-C	c.773A>C	p.E258A	Missense	10/28	-	2
12-106786859-G-C	c.774G>C	p.E258D	Missense	10/28	-	4
12-106786859-G-T	c.774G>T	p.E258D	Missense	10/28	-	5
12-106786860-G-A	c.775G>A	p.E259K	Missense	10/28	-	1
12-106786861-A-G	c.776A>G	p.E259G	Missense	10/28	-	1
12-106786863-C-T	c.778C>T	p.H260Y	Missense	10/28	-	1
12-106786864-A-G	c.779A>G	p.H260R	Missense	10/28	-	2
12-106786865-C-T	c.780C>T	p.H260=	Synonymous	10/28	-	1
12-106786866-G-C	c.781G>C	p.V261L	Missense	10/28	-	2
12-106786866-G-T	c.781G>T	p.V261L	Missense	10/28	-	2
12-106786867-T-C	c.782T>C	p.V261A	Missense	10/28	-	1
12-106786869-A-T	c.784A>T	p.M262L	Missense	10/28	-	1
12-106786878-T-A	c.793T>A	p.F265I	Missense	10/28	-	2
12-106786881-G-A	c.796G>A	p.G266R	Missense	10/28	-	1
12-106786882-G-T	c.797G>T	p.G266V	Missense	10/28	-	1
12-106786883-G-A	c.798G>A	p.G266=	Synonymous	10/28	-	2
12-106786883-G-C	c.798G>C	p.G266=	Synonymous	10/28	-	1
12-106786883-G-T	c.798G>T	p.G266=	Synonymous	10/28	-	1
12-106786884-C-T	c.799C>T	p.P267S	Missense	10/28	-	2
12-106786885-C-T	c.800C>T	p.P267L	Missense	10/28	-	2
12-106786886-C-T	c.801C>T	p.P267=	Synonymous	10/28	-	2
12-106786887-A-G	c.802A>G	p.S268G	Missense	10/28	-	1
12-106786889-T-A	c.804T>A	p.S268R	Missense	10/28	-	1
12-106786889-T-C	c.804T>C	p.S268=	Synonymous	10/28	-	1
12-106786890-C-T	c.805C>T	p.L269=	Synonymous	10/28	-	1
12-106786892-G-T	c.807G>T	p.L269=	Synonymous	10/28	-	1
12-106786895-A-G	c.810A>G	p.E270=	Synonymous	10/28	-	1
12-106786896-G-T	c.811G>T	p.E271*	Nonsense	10/28	-	1
12-106786899-T-C	c.814T>C	p.C272R	Missense	10/28	-	2
12-106786900-G-A	c.815G>A	p.C272Y	Missense	10/28	-	1
12-106786900-G-T	c.815G>T	p.C272F	Missense	10/28	-	3
12-106786901-C-A	c.816C>A	p.C272*	Nonsense	10/28	-	1
12-106786903-A-T	c.818A>T	p.Q273L	Missense	10/28	-	1
12-106786911-C-T	c.826C>T	p.Q276*	Nonsense	10/28	-	1
12-106786913-G-C	c.828G>C	p.Q276H	Missense	10/28	-	1
12-106786914-A-T	c.829A>T	p.I277F	Missense	10/28	-	1
12-106786915-T-A	c.830T>A	p.I277N	Missense	10/28	-	2
12-106786914-A-AT	c.833dup	p.T279Hfs*46	Frameshift	10/28	-	1
12-106786918-T-TC	c.834dup	p.T279Hfs*46	Frameshift	10/28	-	1
12-106786921-C-T	c.836C>T	p.T279I	Missense	10/28	-	2
12-106786922-A-C	c.837A>C	p.T279=	Synonymous	10/28	-	2
12-106786922-A-G	c.837A>G	p.T279=	Synonymous	10/28	-	2
12-106786922-A-T	c.837A>T	p.T279=	Synonymous	10/28	-	2
12-106786931-G-A	c.846G>A	p.Q282=	Synonymous	10/28	-	2
12-106786931-G-T	c.846G>T	p.Q282H	Missense	10/28	-	1
12-106789188-G-A	c.846+2257G>A	-	IntronicSNV	-	10/27	1
12-106794547-G-C	c.847-5088G>C	-	IntronicSNV	-	10/27	1
12-106799650-G-A	c.862G>A	p.G288R	Missense	11/28	-	1
12-106799650-G-C	c.862G>C	p.G288R	Missense	11/28	-	1
12-106799651-G-A	c.863G>A	p.G288E	Missense	11/28	-	1
12-106799659-G-A	c.871G>A	p.V291I	Missense	11/28	-	1
12-106799662-AGA-TGT	c.874_876delinsTGT	p.R292C	Missense	11/28	-	1
12-106799665-A-G	c.877A>G	p.R293G	Missense	11/28	-	2
12-106799667-G-A	c.879G>A	p.R293=	Synonymous	11/28	-	1
12-106799671-A-T	c.883A>T	p.R295W	Missense	11/28	-	1
12-106799673-G-C	c.885G>C	p.R295S	Missense	11/28	-	1
12-106799673-G-T	c.885G>T	p.R295S	Missense	11/28	-	1
12-106799674-A-G	c.886A>G	p.M296V	Missense	11/28	-	1
12-106799678-G-A	c.890G>A	p.W297*	Nonsense	11/28	-	1
12-106799680-G-A	c.892G>A	p.G298R	Missense	11/28	-	1
12-106799680-G-C	c.892G>C	p.G298R	Missense	11/28	-	1
12-106799681-G-T	c.893G>T	p.G298V	Missense	11/28	-	1
12-106799690-C-T	c.902C>T	p.P301L	Missense	11/28	-	1
12-106799696-A-C	c.908A>C	p.K303T	Missense	11/28	-	1
12-106799699-C-T	c.911C>T	p.T304I	Missense	11/28	-	1
12-106799705-T-C	c.917T>C	p.I306T	Missense	11/28	-	1
12-106799710-G-C	c.922G>C	p.E308Q	Missense	11/28	-	1
12-106799710-G-T	c.922G>T	p.E308*	Nonsense	11/28	-	1
12-106799716-A-G	c.928A>G	p.R310G	Missense	11/28	-	1
12-106799721-G-C	c.933G>C	p.E311D	Missense	11/28	-	1
12-106799721-G-T	c.933G>T	p.E311D	Missense	11/28	-	1
12-106799725-CTG-TTT	c.937_939delinsTTT	p.L313F	Missense	11/28	-	1
12-106799725-C-T	c.937C>T	p.L313=	Synonymous	11/28	-	1
12-106799727-G-A	c.939G>A	p.L313=	Synonymous	11/28	-	1
12-106799727-G-C	c.939G>C	p.L313=	Synonymous	11/28	-	1
12-106799727-G-T	c.939G>T	p.L313=	Synonymous	11/28	-	1
12-106799729-C-T	c.941C>T	p.A314V	Missense	11/28	-	1
12-106799741-T-A	c.953T>A	p.L318Q	Missense	11/28	-	1
12-106799744-C-T	c.956C>T	p.T319I	Missense	11/28	-	1
12-106799746-C-G	c.958C>G	p.H320D	Missense	11/28	-	2
12-106799746-C-T	c.958C>T	p.H320Y	Missense	11/28	-	3
12-106799751-C-T	c.963C>T	p.V321=	Synonymous	11/28	-	1
12-106799753-C-T	c.965C>T	p.P322L	Missense	11/28	-	1
12-106799754-A-G	c.966A>G	p.P322=	Synonymous	11/28	-	1
12-106799755-G-A	c.966+1G>A	-	IntronicSNV	-	11/27	1
12-106799762-A-G	c.966+8A>G	-	IntronicSNV	-	11/27	1
12-106804604-GGTTAAGGAATTCA-G	c.967_979del	p.V323Ifs*11	SpliceAcceptorDeletion	12/28	-	1
12-106804605-T-C	c.968T>C	p.V323A	Missense	12/28	-	1
12-106804611-A-T	c.974A>T	p.E325V	Missense	12/28	-	1
12-106804612-A-G	c.975A>G	p.E325=	Synonymous	12/28	-	3
12-106804614-T-C	c.977T>C	p.F326S	Missense	12/28	-	1
12-106804615-C-T	c.978C>T	p.F326=	Synonymous	12/28	-	2
12-106804616-A-G	c.979A>G	p.N327D	Missense	12/28	-	3
12-106804619-T-C	c.982T>C	p.F328L	Missense	12/28	-	1
12-106804621-C-A	c.984C>A	p.F328L	Missense	12/28	-	1
12-106804621-C-G	c.984C>G	p.F328L	Missense	12/28	-	1
12-106804621-C-T	c.984C>T	p.F328=	Synonymous	12/28	-	3
12-106804622-CGA-ATG	c.985_987delinsATG	p.R329M	Missense	12/28	-	1
12-106804622-CGA-TGT	c.985_987delinsTGT	p.R329C	Missense	12/28	-	1
12-106804622-C-T	c.985C>T	p.R329*	Nonsense	12/28	-	5
12-106804625-G-A	c.988G>A	p.A330T	Missense	12/28	-	3
12-106804629-AA-TG	c.992_993delinsTG	p.K331M	Missense	12/28	-	1
12-106804629-A-C	c.992A>C	p.K331T	Missense	12/28	-	1
12-106804630-A-G	c.993A>G	p.K331=	Synonymous	12/28	-	1
12-106804634-A-T	c.997A>T	p.I333F	Missense	12/28	-	1
12-106804635-T-C	c.998T>C	p.I333T	Missense	12/28	-	1
12-106804641-C-A	c.1004C>A	p.T335N	Missense	12/28	-	1
12-106804644-C-T	c.1007C>T	p.A336V	Missense	12/28	-	1
12-106804647-T-C	c.1010T>C	p.V337A	Missense	12/28	-	1
12-106804651-G-A	c.1014G>A	p.M338I	Missense	12/28	-	1
12-106804651-G-C	c.1014G>C	p.M338I	Missense	12/28	-	1
12-106804651-G-T	c.1014G>T	p.M338I	Missense	12/28	-	1
12-106804652-G-A	c.1015G>A	p.V339M	Missense	12/28	-	1
12-106804653-T-G	c.1016T>G	p.V339G	Missense	12/28	-	1
12-106804655-C-T	c.1018C>T	p.R340*	Nonsense	12/28	-	2
12-106804656-G-A	c.1019G>A	p.R340Q	Missense	12/28	-	1
12-106804659-G-A	c.1022G>A	p.R341K	Missense	12/28	-	1
12-106804658-A-C	c.1021A>C	p.R341=	Synonymous	12/28	-	1
12-106804660-A-G	c.1023A>G	p.R341=	Synonymous	12/28	-	1
12-106804661-G-A	c.1024G>A	p.V342I	Missense	12/28	-	1
12-106804661-GTT-ATG	c.1024_1026delinsATG	p.V342M	Missense	12/28	-	1
12-106804664-A-C	c.1027A>C	p.I343L	Missense	12/28	-	1
12-106804668-TG-AT	c.1031_1032delinsAT	p.L344H	Missense	12/28	-	1
12-106804669-G-T	c.1032G>T	p.L344=	Synonymous	12/28	-	1
12-106804670-G-T	c.1033G>T	p.A345S	Missense	12/28	-	1
12-106804676-G-A	c.1039G>A	p.G347R	Missense	12/28	-	1
12-106804676-G-C	c.1039G>C	p.G347R	Missense	12/28	-	1
12-106804679-G-T	c.1042G>T	p.D348Y	Missense	12/28	-	1
12-106804682-A-G	c.1045A>G	p.N349D	Missense	12/28	-	1
12-106804683-A-G	c.1046A>G	p.N349S	Missense	12/28	-	1
12-106804684-T-A	c.1047T>A	p.N349K	Missense	12/28	-	1
12-106804684-T-G	c.1047T>G	p.N349K	Missense	12/28	-	1
12-106804685-A-G	c.1048A>G	p.K350E	Missense	12/28	-	1
12-106804689-T-C	c.1052T>C	p.V351A	Missense	12/28	-	2
12-106804693-C-T	c.1056C>T	p.D352=	Synonymous	12/28	-	1
12-106804694-G-A	c.1057G>A	p.D353N	Missense	12/28	-	2
12-106804697-AGA-TGT	c.1060_1062delinsTGT	p.R354C	Missense	12/28	-	1
12-106804698-G-A	c.1061G>A	p.R354K	Missense	12/28	-	1
12-106804709-G-A	c.1072G>A	p.G358S	Missense	12/28	-	1
12-106804712-A-G	c.1075A>G	p.N359D	Missense	12/28	-	2
12-106804713-A-G	c.1076A>G	p.N359S	Missense	12/28	-	2
12-106804718-C-T	c.1081C>T	p.R361*	Nonsense	12/28	-	2
12-106804719-G-A	c.1082G>A	p.R361Q	Missense	12/28	-	6
12-106804719-G-T	c.1082G>T	p.R361L	Missense	12/28	-	1
12-106804724-G-A	c.1087G>A	p.E363K	Missense	12/28	-	3
12-106804731-C-T	c.1094C>T	p.A365V	Missense	12/28	-	3
12-106804737-A-G	c.1100A>G	p.Q367R	Missense	12/28	-	1
12-106804737-A-T	c.1100A>T	p.Q367L	Missense	12/28	-	1
12-106806805-A-T	c.1101+2067A>T	-	IntronicSNV	-	12/27	1
12-106809177-T-G	c.1101+4439T>G	-	IntronicSNV	-	12/27	1
12-106812045-A-T	c.1101+7307A>T	-	IntronicSNV	-	12/27	1
12-106812060-T-G	c.1101+7322T>G	-	IntronicSNV	-	12/27	1
12-106812080-T-A	c.1101+7342T>A	-	IntronicSNV	-	12/27	1
12-106812156-T-C	c.1101+7418T>C	-	IntronicSNV	-	12/27	1
12-106812295-A-G	c.1101+7557A>G	-	IntronicSNV	-	12/27	1
12-106812347-G-A	c.1101+7609G>A	-	IntronicSNV	-	12/27	1
12-106812349-A-G	c.1101+7611A>G	-	IntronicSNV	-	12/27	1
12-106812422-G-T	c.1101+7684G>T	-	IntronicSNV	-	12/27	1
12-106812529-CT-C	c.1101+7795del	-	IntronicDeletion	-	12/27	1
12-106812902-T-C	c.1102-8073T>C	-	IntronicSNV	-	12/27	5
12-106813262-A-G	c.1102-7713A>G	-	IntronicSNV	-	12/27	1
12-106815491-T-A	c.1102-5484T>A	-	IntronicSNV	-	12/27	1
12-106820975-C-A	c.1102C>A	p.L368I	Missense	13/28	-	1
12-106820975-C-G	c.1102C>G	p.L368V	Missense	13/28	-	1
12-106820975-C-T	c.1102C>T	p.L368F	Missense	13/28	-	11
12-106820975-CT-AG	c.1102_1103inv	p.L368S	Missense	13/28	-	1
12-106820976-T-C	c.1103T>C	p.L368P	Missense	13/28	-	1
12-106820976-T-G	c.1103T>G	p.L368R	Missense	13/28	-	1
12-106820980-A-C	c.1107A>C	p.L369F	Missense	13/28	-	3
12-106820980-A-T	c.1107A>T	p.L369F	Missense	13/28	-	3
12-106820982-C-T	c.1109C>T	p.S370F	Missense	13/28	-	1
12-106820984-C-T	c.1111C>T	p.L371F	Missense	13/28	-	1
12-106820986-T-C	c.1113T>C	p.L371=	Synonymous	13/28	-	2
12-106820987-C-A	c.1114C>A	p.L372I	Missense	13/28	-	1
12-106820987-C-G	c.1114C>G	p.L372V	Missense	13/28	-	1
12-106820987-C-T	c.1114C>T	p.L372F	Missense	13/28	-	9
12-106820993-G-T	c.1120G>T	p.E374*	Nonsense	13/28	-	1
12-106820997-A-G	c.1124A>G	p.D375G	Missense	13/28	-	3
12-106820997-A-T	c.1124A>T	p.D375V	Missense	13/28	-	5
12-106820998-C-G	c.1125C>G	p.D375E	Missense	13/28	-	1
12-106821001-G-C	c.1128G>C	p.L376F	Missense	13/28	-	1
12-106821001-G-T	c.1128G>T	p.L376F	Missense	13/28	-	2
12-106821002-T-C	c.1129T>C	p.F377L	Missense	13/28	-	1
12-106821004-C-A	c.1131C>A	p.F377L	Missense	13/28	-	1
12-106821004-C-G	c.1131C>G	p.F377L	Missense	13/28	-	1
12-106821005-A-C	c.1132A>C	p.K378Q	Missense	13/28	-	1
12-106821005-A-T	c.1132A>T	p.K378*	Nonsense	13/28	-	1
12-106821006-A-C	c.1133A>C	p.K378T	Missense	13/28	-	1
12-106821007-A-G	c.1134A>G	p.K378=	Synonymous	13/28	-	1
12-106821008-A-C	c.1135A>C	p.K379Q	Missense	13/28	-	1
12-106821008-A-T	c.1135A>T	p.K379*	Nonsense	13/28	-	1
12-106821009-A-G	c.1136A>G	p.K379R	Missense	13/28	-	1
12-106821018-C-T	c.1145C>T	p.S382F	Missense	13/28	-	1
12-106821020-G-A	c.1147G>A	p.E383K	Missense	13/28	-	1
12-106821020-G-C	c.1147G>C	p.E383Q	Missense	13/28	-	1
12-106821023-A-G	c.1150A>G	p.M384V	Missense	13/28	-	1
12-106821029-A-G	c.1156A>G	p.K386E	Missense	13/28	-	1
12-106821030-A-C	c.1157A>C	p.K386T	Missense	13/28	-	1
12-106821031-G-A	c.1158G>A	p.K386=	Synonymous	13/28	-	1
12-106821034-T-A	c.1161T>A	p.I387=	Synonymous	13/28	-	1
12-106821034-T-C	c.1161T>C	p.I387=	Synonymous	13/28	-	1
12-106821036-C-T	c.1163C>T	p.A388V	Missense	13/28	-	1
12-106821038-G-A	c.1165G>A	p.D389N	Missense	13/28	-	5
12-106821053-A-T	c.1180A>T	p.K394*	Nonsense	13/28	-	2
12-106821060-G-T	c.1187G>T	p.R396I	Missense	13/28	-	1
12-106821066-C-A	c.1193C>A	p.A398D	Missense	13/28	-	2
12-106821067-C-G	c.1194C>G	p.A398=	Synonymous	13/28	-	3
12-106821067-C-T	c.1194C>T	p.A398=	Synonymous	13/28	-	3
12-106821070-AG-A	c.1197del	p.Q399Hfs*18	Frameshift	13/28	-	1
12-106821072-T-C	c.1199T>C	p.F400S	Missense	13/28	-	1
12-106821073-T-C	c.1200T>C	p.F400=	Synonymous	13/28	-	1
12-106821074-G-C	c.1201G>C	p.D401H	Missense	13/28	-	1
12-106821074-G-T	c.1201G>T	p.D401Y	Missense	13/28	-	1
12-106821080-G-T	c.1207G>T	p.V403F	Missense	13/28	-	1
12-106821085-A-G	c.1212A>G	p.K404=	Synonymous	13/28	-	1
12-106821089-A-G	c.1216A>G	p.M406V	Missense	13/28	-	1
12-106821101-C-A	c.1228C>A	p.Q410K	Missense	13/28	-	1
12-106821116-A-G	c.1243A>G	p.M415V	Missense	13/28	-	1
12-106821117-T-C	c.1244T>C	p.M415T	Missense	13/28	-	7
12-106821118-G-A	c.1245G>A	p.M415I	Missense	13/28	-	1
12-106821120-T-C	c.1247T>C	p.V416A	Missense	13/28	-	1
12-106821121-G-A	c.1248G>A	p.V416=	Synonymous	13/28	-	1
12-106821121-G-C	c.1248G>C	p.V416=	Synonymous	13/28	-	1
12-106821121-G-T	c.1248G>T	p.V416=	Synonymous	13/28	-	1
12-106821123-A-G	c.1250A>G	p.N417S	Missense	13/28	-	1
12-106821124-T-C	c.1251T>C	p.N417=	Synonymous	13/28	-	1
12-106821127-T-C	c.1254T>C	p.A418=	Synonymous	13/28	-	1
12-106821135-C-T	c.1262C>T	p.T421I	Missense	13/28	-	1
12-106821136-C-A	c.1263C>A	p.T421=	Synonymous	13/28	-	1
12-106821136-C-G	c.1263C>G	p.T421=	Synonymous	13/28	-	1
12-106821136-C-T	c.1263C>T	p.T421=	Synonymous	13/28	-	1
12-106824058-G-A	c.1271G>A	p.W424*	Nonsense	14/28	-	1
12-106824058-G-T	c.1271G>T	p.W424L	Missense	14/28	-	1
12-106824059-G-C	c.1272G>C	p.W424C	Missense	14/28	-	1
12-106824064-T-C	c.1277T>C	p.L426S	Missense	14/28	-	5
12-106824068-G-T	c.1281G>T	p.K427N	Missense	14/28	-	1
12-106824069-A-G	c.1282A>G	p.R428G	Missense	14/28	-	5
12-106824069-AGA-TGG	c.1282_1284delinsTGG	p.R428W	Missense	14/28	-	1
12-106824069-A-T	c.1282A>T	p.R428*	Nonsense	14/28	-	1
12-106824070-G-A	c.1283G>A	p.R428K	Missense	14/28	-	5
12-106824070-G-C	c.1283G>C	p.R428T	Missense	14/28	-	1
12-106824071-A-C	c.1284A>C	p.R428S	Missense	14/28	-	2
12-106824071-A-T	c.1284A>T	p.R428S	Missense	14/28	-	3
12-106824072-T-C	c.1285T>C	p.F429L	Missense	14/28	-	2
12-106824074-T-A	c.1287T>A	p.F429L	Missense	14/28	-	1
12-106824074-T-G	c.1287T>G	p.F429L	Missense	14/28	-	1
12-106824073-T-G	c.1286T>G	p.F429C	Missense	14/28	-	1
12-106824075-AA-CT	c.1288_1289delinsCT	p.K430L	Missense	14/28	-	1
12-106824080-G-A	c.1293G>A	p.M431I	Missense	14/28	-	1
12-106824083-C-A	c.1296C>A	p.D432E	Missense	14/28	-	1
12-106824083-C-T	c.1296C>T	p.D432=	Synonymous	14/28	-	1
12-106824084-C-A	c.1297C>A	p.R433S	Missense	14/28	-	2
12-106824084-C-G	c.1297C>G	p.R433G	Missense	14/28	-	5
12-106824085-G-A	c.1298G>A	p.R433H	Missense	14/28	-	1
12-106824085-GC-AA	c.1298_1299delinsAA	p.R433Q	Missense	14/28	-	1
12-106824088-A-C	c.1301A>C	p.Q434P	Missense	14/28	-	1
12-106824088-A-T	c.1301A>T	p.Q434L	Missense	14/28	-	1
12-106824096-A-G	c.1309A>G	p.T437A	Missense	14/28	-	1
12-106824097-C-T	c.1310C>T	p.T437I	Missense	14/28	-	2
12-106824099-C-G	c.1312C>G	p.Q438E	Missense	14/28	-	1
12-106824103-T-G	c.1316T>G	p.V439G	Missense	14/28	-	1
12-106824111-C-T	c.1324C>T	p.R442C	Missense	14/28	-	3
12-106824112-G-A	c.1325G>A	p.R442H	Missense	14/28	-	3
12-106824120-T-C	c.1333T>C	p.Y445H	Missense	14/28	-	1
12-106824123-A-G	c.1336A>G	p.I446V	Missense	14/28	-	1
12-106824126-T-A	c.1339T>A	p.S447T	Missense	14/28	-	1
12-106824128-C-A	c.1341C>A	p.S447=	Synonymous	14/28	-	2
12-106824128-C-G	c.1341C>G	p.S447=	Synonymous	14/28	-	2
12-106824128-C-T	c.1341C>T	p.S447=	Synonymous	14/28	-	2
12-106824129-G-A	c.1342G>A	p.A448T	Missense	14/28	-	1
12-106824129-G-T	c.1342G>T	p.A448S	Missense	14/28	-	1
12-106824133-T-C	c.1346T>C	p.L449P	Missense	14/28	-	1
12-106824132-C-T	c.1345C>T	p.L449=	Synonymous	14/28	-	1
12-106824134-G-A	c.1347G>A	p.L449=	Synonymous	14/28	-	2
12-106824134-G-C	c.1347G>C	p.L449=	Synonymous	14/28	-	1
12-106824134-G-T	c.1347G>T	p.L449=	Synonymous	14/28	-	1
12-106824136-GC-AG	c.1349_1350delinsAG	p.G450E	Missense	14/28	-	1
12-106824139-T-A	c.1352T>A	p.M451K	Missense	14/28	-	1
12-106824148-G-T	c.1361G>T	p.R454I	Missense	14/28	-	1
12-106824150-A-G	c.1363A>G	p.I455V	Missense	14/28	-	1
12-106824152-C-T	c.1365C>T	p.I455=	Synonymous	14/28	-	1
12-106824153-T-A	c.1366T>A	p.S456T	Missense	14/28	-	3
12-106824154-C-G	c.1367C>G	p.S456C	Missense	14/28	-	2
12-106824154-C-T	c.1367C>T	p.S456F	Missense	14/28	-	4
12-106824157-C-T	c.1370C>T	p.S457F	Missense	14/28	-	1
12-106824161-G-GT	c.1377dup	p.E460*	Nonsense	14/28	-	1
12-106824172-C-G	c.1385C>G	p.T462R	Missense	14/28	-	3
12-106824173-G-A	c.1386G>A	p.T462=	Synonymous	14/28	-	1
12-106824177-A-G	c.1390A>G	p.K464E	Missense	14/28	-	3
12-106824180-G-A	c.1393G>A	p.V465M	Missense	14/28	-	8
12-106824181-T-A	c.1394T>A	p.V465E	Missense	14/28	-	4
12-106824183-AG-TA	c.1396_1397delinsTA	p.S466Y	Missense	14/28	-	1
12-106824188-T-A	c.1401T>A	p.G467=	Synonymous	14/28	-	1
12-106824192-C-T	c.1405C>T	p.R469C	Missense	14/28	-	4
12-106824196-C-T	c.1409C>T	p.S470F	Missense	14/28	-	5
12-106824197-C-A	c.1410C>A	p.S470=	Synonymous	14/28	-	1
12-106824197-C-G	c.1410C>G	p.S470=	Synonymous	14/28	-	1
12-106824197-C-T	c.1410C>T	p.S470=	Synonymous	14/28	-	1
12-106824199-T-G	c.1412T>G	p.L471R	Missense	14/28	-	2
12-106824201-C-A	c.1414C>A	p.Q472K	Missense	14/28	-	1
12-106824205-C-T	c.1418C>T	p.P473L	Missense	14/28	-	1
12-106824208-C-G	c.1421C>G	p.S474C	Missense	14/28	-	1
12-106824210-C-A	c.1423C>A	p.Q475K	Missense	14/28	-	1
12-106824212-G-A	c.1425G>A	p.Q475=	Synonymous	14/28	-	1
12-106824217-G-C	c.1430G>C	p.G477A	Missense	14/28	-	2
12-106824219-A-G	c.1432A>G	p.M478V	Missense	14/28	-	2
12-106824221-G-A	c.1434G>A	p.M478I	Missense	14/28	-	1
12-106824222-C-A	c.1435C>A	p.L479M	Missense	14/28	-	1
12-106824224-G-A	c.1437G>A	p.L479=	Synonymous	14/28	-	2
12-106824228-CC-TT	c.1441_1442delinsTT	p.P481F	Missense	14/28	-	3
12-106824228-C-T	c.1441C>T	p.P481S	Missense	14/28	-	3
12-106824229-C-G	c.1442C>G	p.P481R	Missense	14/28	-	4
12-106824229-C-T	c.1442C>T	p.P481L	Missense	14/28	-	2
12-106824232-C-T	c.1445C>T	p.S482L	Missense	14/28	-	1
12-106824234-G-A	c.1447G>A	p.D483N	Missense	14/28	-	5
12-106824236-C-A	c.1449C>A	p.D483E	Missense	14/28	-	2
12-106824236-C-G	c.1449C>G	p.D483E	Missense	14/28	-	1
12-106824242-T-C	c.1455T>C	p.P485=	Synonymous	14/28	-	1
12-106824245-A-G	c.1458A>G	p.E486=	Synonymous	14/28	-	1
12-106824247-GA-AC	c.1460_1461delinsAC	p.G487D	Missense	14/28	-	1
12-106824249-G-A	c.1462G>A	p.E488K	Missense	14/28	-	1
12-106826096-G-A	c.1465G>A	p.A489T	Missense	15/28	-	2
12-106826100-G-A	c.1469G>A	p.C490Y	Missense	15/28	-	1
12-106826102-G-A	c.1471G>A	p.G491S	Missense	15/28	-	1
12-106826103-G-A	c.1472G>A	p.G491D	Missense	15/28	-	1
12-106826106-T-C	c.1475T>C	p.L492S	Missense	15/28	-	3
12-106826108-G-A	c.1477G>A	p.V493I	Missense	15/28	-	1
12-106826121-C-T	c.1490C>T	p.A497V	Missense	15/28	-	1
12-106826129-A-G	c.1498A>G	p.T500A	Missense	15/28	-	1
12-106826139-C-A	c.1508C>A	p.T503K	Missense	15/28	-	3
12-106826146-T-A	c.1515T>A	p.D505E	Missense	15/28	-	1
12-106826146-T-G	c.1515T>G	p.D505E	Missense	15/28	-	1
12-106826147-A-G	c.1516A>G	p.M506V	Missense	15/28	-	1
12-106826149-G-A	c.1518G>A	p.M506I	Missense	15/28	-	1
12-106826150-G-A	c.1519G>A	p.E507K	Missense	15/28	-	1
12-106826158-A-C	c.1527A>C	p.G509=	Synonymous	15/28	-	1
12-106826158-A-G	c.1527A>G	p.G509=	Synonymous	15/28	-	2
12-106826158-A-T	c.1527A>T	p.G509=	Synonymous	15/28	-	1
12-106826160-C-T	c.1529C>T	p.P510L	Missense	15/28	-	1
12-106826162-A-C	c.1531A>C	p.I511L	Missense	15/28	-	1
12-106826162-A-G	c.1531A>G	p.I511V	Missense	15/28	-	1
12-106826162-AT-A	c.1533del	p.I511Mfs*4	Frameshift	15/28	-	1
12-106826164-T-G	c.1533T>G	p.I511M	Missense	15/28	-	1
12-106826169-A-C	c.1538A>C	p.K513T	Missense	15/28	-	1
12-106826173-A-C	c.1542A>C	p.L514F	Missense	15/28	-	1
12-106826173-A-T	c.1542A>T	p.L514F	Missense	15/28	-	1
12-106826174-G-C	c.1543G>C	p.A515P	Missense	15/28	-	1
12-106826174-G-T	c.1543G>T	p.A515S	Missense	15/28	-	1
12-106826175-C-T	c.1544C>T	p.A515V	Missense	15/28	-	1
12-106826181-A-G	c.1550A>G	p.N517S	Missense	15/28	-	2
12-106826186-GGA-AGC	c.1555_1557delinsAGC	p.G519S	Missense	15/28	-	1
12-106826189-G-A	c.1558G>A	p.V520I	Missense	15/28	-	1
12-106826195-G-T	c.1564G>T	p.D522Y	Missense	15/28	-	1
12-106826196-A-G	c.1565A>G	p.D522G	Missense	15/28	-	1
12-106826198-G-A	c.1567G>A	p.V523M	Missense	15/28	-	1
12-106826198-GT-CA	c.1567_1568delinsCA	p.V523Q	Missense	15/28	-	1
12-106826199-T-A	c.1568T>A	p.V523E	Missense	15/28	-	28
12-106826210-T-C	c.1579T>C	p.C527R	Missense	15/28	-	2
12-106826210-TG-AC	c.1579_1580delinsAC	p.C527T	Missense	15/28	-	1
12-106826211-G-A	c.1580G>A	p.C527Y	Missense	15/28	-	1
12-106826211-G-T	c.1580G>T	p.C527F	Missense	15/28	-	3
12-106826212-T-TG	c.1585dup	p.E529Gfs*14	Frameshift	15/28	-	1
12-106826219-G-A	c.1588G>A	p.E530K	Missense	15/28	-	4
12-106826221-G-A	c.1590G>A	p.E530=	Synonymous	15/28	-	1
12-106826224-C-T	c.1593C>T	p.L531=	Synonymous	15/28	-	1
12-106826226-C-T	c.1595C>T	p.S532F	Missense	15/28	-	1
12-106826231-C-A	c.1600C>A	p.P534T	Missense	15/28	-	1
12-106826234-A-C	c.1603A>C	p.N535H	Missense	15/28	-	1
12-106826235-A-G	c.1604A>G	p.N535S	Missense	15/28	-	1
12-106826238-T-A	c.1607T>A	p.V536E	Missense	15/28	-	1
12-106826242-T-C	c.1611T>C	p.F537=	Synonymous	15/28	-	1
12-106826240-TTTC-T	c.1612_1614del	p.L538del	InFrameDeletion	15/28	-	1
12-106826243-C-T	c.1612C>T	p.L538F	Missense	15/28	-	1
12-106826246-G-T	c.1615G>T	p.V539F	Missense	15/28	-	1
12-106826249-T-C	c.1618T>C	p.F540L	Missense	15/28	-	1
12-106826251-T-G	c.1620T>G	p.F540L	Missense	15/28	-	1
12-106826251-T-A	c.1620T>A	p.F540L	Missense	15/28	-	2
12-106826256-A-G	c.1625A>G	p.N542S	Missense	15/28	-	1
12-106826261-G-A	c.1627+3G>A	-	IntronicSNV	-	15/27	1
12-106826310-A-G	c.1627+52A>G	-	IntronicSNV	-	15/27	1
12-106827497-G-T	c.1628G>T	p.G543V	Missense	16/28	-	1
12-106827499-A-G	c.1630A>G	p.N544D	Missense	16/28	-	1
12-106827515-T-C	c.1646T>C	p.I549T	Missense	16/28	-	2
12-106827517-C-T	c.1648C>T	p.R550*	Nonsense	16/28	-	5
12-106827518-G-A	c.1649G>A	p.R550Q	Missense	16/28	-	2
12-106827518-G-T	c.1649G>T	p.R550L	Missense	16/28	-	1
12-106827532-CTA-TGG	c.1663_1665delinsTGG	p.L555W	Missense	16/28	-	1
12-106827535-G-C	c.1666G>C	p.V556L	Missense	16/28	-	2
12-106827543-A-C	c.1674A>C	p.T558=	Synonymous	16/28	-	1
12-106827543-A-G	c.1674A>G	p.T558=	Synonymous	16/28	-	1
12-106827543-A-T	c.1674A>T	p.T558=	Synonymous	16/28	-	1
12-106827547-C-T	c.1678C>T	p.R560*	Nonsense	16/28	-	2
12-106827548-G-A	c.1679G>A	p.R560Q	Missense	16/28	-	4
12-106827552-C-T	c.1683C>T	p.L561=	Synonymous	16/28	-	2
12-106827553-A-T	c.1684A>T	p.M562L	Missense	16/28	-	1
12-106827556-A-T	c.1687A>T	p.R563*	Nonsense	16/28	-	1
12-106827560-G-C	c.1691G>C	p.R564T	Missense	16/28	-	1
12-106827564-A-G	c.1695A>G	p.A565=	Synonymous	16/28	-	1
12-106827566-GA-AC	c.1697_1698delinsAC	p.G566D	Missense	16/28	-	1
12-106827573-C-A	c.1704C>A	p.I568=	Synonymous	16/28	-	1
12-106827573-C-T	c.1704C>T	p.I568=	Synonymous	16/28	-	1
12-106827578-A-G	c.1709A>G	p.E570G	Missense	16/28	-	1
12-106827587-C-T	c.1718C>T	p.S573F	Missense	16/28	-	1
12-106827590-T-A	c.1721T>A	p.I574N	Missense	16/28	-	1
12-106827607-G-A	c.1738G>A	p.D580N	Missense	16/28	-	1
12-106827610-C-T	c.1741C>T	p.R581*	Nonsense	16/28	-	2
12-106827618-C-A	c.1749C>A	p.V583=	Synonymous	16/28	-	1
12-106827620-A-G	c.1751A>G	p.Y584C	Missense	16/28	-	2
12-106827632-A-T	c.1763A>T	p.D588V	Missense	16/28	-	1
12-106827635-GG-AC	c.1766_1767delinsAC	p.G589D	Missense	16/28	-	1
12-106827640-AGG-CAT	c.1771_1773delinsCAT	p.R591H	Missense	16/28	-	1
12-106827641-G-A	c.1772G>A	p.R591K	Missense	16/28	-	1
12-106827643-C-T	c.1774C>T	p.L592=	Synonymous	16/28	-	2
12-106827645-A-C	c.1776A>C	p.L592=	Synonymous	16/28	-	2
12-106827645-A-G	c.1776A>G	p.L592=	Synonymous	16/28	-	2
12-106827645-A-T	c.1776A>T	p.L592=	Synonymous	16/28	-	2
12-106827647-G-T	c.1778G>T	p.C593F	Missense	16/28	-	1
12-106829279-T-C	c.1782-1556T>C	-	IntronicSNV	-	16/27	1
12-106830836-C-A	c.1783C>A	p.P595T	Missense	17/28	-	1
12-106830837-C-A	c.1784C>A	p.P595H	Missense	17/28	-	1
12-106830843-T-C	c.1790T>C	p.I597T	Missense	17/28	-	1
12-106830845-A-C	c.1792A>C	p.I598L	Missense	17/28	-	1
12-106830849-TC-AG	c.1796_1797delinsAG	p.V599E	Missense	17/28	-	1
12-106830853-G-C	c.1800G>C	p.K600N	Missense	17/28	-	1
12-106830853-G-T	c.1800G>T	p.K600N	Missense	17/28	-	1
12-106830857-C-G	c.1804C>G	p.Q602E	Missense	17/28	-	1
12-106830862-G-T	c.1809G>T	p.K603N	Missense	17/28	-	1
12-106830874-A-C	c.1821A>C	p.T607=	Synonymous	17/28	-	1
12-106830874-A-G	c.1821A>G	p.T607=	Synonymous	17/28	-	1
12-106830874-A-T	c.1821A>T	p.T607=	Synonymous	17/28	-	1
12-106830882-A-T	c.1829A>T	p.H610L	Missense	17/28	-	1
12-106830884-A-G	c.1831A>G	p.M611V	Missense	17/28	-	1
12-106830887-G-A	c.1834G>A	p.E612K	Missense	17/28	-	1
12-106830892-G-A	c.1839G>A	p.E613=	Synonymous	17/28	-	1
12-106830892-G-T	c.1839G>T	p.E613D	Missense	17/28	-	1
12-106830896-GCC-ATG	c.1843_1845delinsATG	p.A615M	Missense	17/28	-	1
12-106831283-G-A	c.1857-176G>A	-	IntronicSNV	-	17/27	3
12-106831447-A-G	c.1857-12A>G	-	IntronicSNV	-	17/27	2
12-106831460-GAATTTTGAAGATTTCTTACATGAGAGTCTGGTTGAATATTTAGATGTGAATGAAGAAAA-G	c.1858_1916del	p.N620*	InFrameDeletion	18/28	-	1
12-106831466-G-A	c.1864G>A	p.E622K	Missense	18/28	-	1
12-106831469-G-T	c.1867G>T	p.D623Y	Missense	18/28	-	2
12-106831478-C-A	c.1876C>A	p.H626N	Missense	18/28	-	1
12-106831484-A-T	c.1882A>T	p.S628C	Missense	18/28	-	1
12-106831485-G-A	c.1883G>A	p.S628N	Missense	18/28	-	2
12-106831487-C-A	c.1885C>A	p.L629M	Missense	18/28	-	1
12-106831498-T-C	c.1896T>C	p.Y632=	Synonymous	18/28	-	1
12-106831502-G-T	c.1900G>T	p.D634Y	Missense	18/28	-	1
12-106831507-G-A	c.1905G>A	p.V635=	Synonymous	18/28	-	1
12-106831507-G-C	c.1905G>C	p.V635=	Synonymous	18/28	-	1
12-106831507-G-T	c.1905G>T	p.V635=	Synonymous	18/28	-	1
12-106831511-G-A	c.1909G>A	p.E637K	Missense	18/28	-	1
12-106831521-A-T	c.1919A>T	p.D640V	Missense	18/28	-	1
12-106831526-A-T	c.1924A>T	p.N642Y	Missense	18/28	-	1
12-106831529-A-C	c.1927A>C	p.I643L	Missense	18/28	-	1
12-106831541-G-A	c.1939G>A	p.E647K	Missense	18/28	-	3
12-106831543-A-C	c.1941A>C	p.E647D	Missense	18/28	-	1
12-106831543-A-T	c.1941A>T	p.E647D	Missense	18/28	-	1
12-106831546-C-A	c.1944C>A	p.H648Q	Missense	18/28	-	2
12-106831547-ACA-TGT	c.1945_1947inv	p.T649C	Missense	18/28	-	1
12-106831554-A-G	c.1952A>G	p.N651S	Missense	18/28	-	1
12-106831557-A-G	c.1955A>G	p.K652R	Missense	18/28	-	1
12-106831566-G-A	c.1955+9G>A	-	IntronicSNV	-	18/27	1
12-106835867-A-G	c.1956-2374A>G	-	IntronicSNV	-	18/27	1
12-106838158-A-G	c.1956-83A>G	-	IntronicSNV	-	18/27	1
12-106838242-G-T	c.1957G>T	p.D653Y	Missense	19/28	-	2
12-106838243-A-T	c.1958A>T	p.D653V	Missense	19/28	-	9
12-106838261-T-C	c.1976T>C	p.I659T	Missense	19/28	-	1
12-106838263-G-T	c.1978G>T	p.E660*	Nonsense	19/28	-	2
12-106838267-C-T	c.1982C>T	p.P661L	Missense	19/28	-	1
12-106838273-C-T	c.1988C>T	p.T663I	Missense	19/28	-	2
12-106838278-TCTC-T	c.1993_1995del	p.L665del	InFrameDeletion	19/28	-	2
12-106838284-G-A	c.1999G>A	p.V667M	Missense	19/28	-	2
12-106838286-G-A	c.2001G>A	p.V667=	Synonymous	19/28	-	1
12-106838286-G-C	c.2001G>C	p.V667=	Synonymous	19/28	-	1
12-106838286-G-T	c.2001G>T	p.V667=	Synonymous	19/28	-	1
12-106838290-G-C	c.2005G>C	p.A669P	Missense	19/28	-	1
12-106838292-TG-T	c.2009del	p.G670Dfs*28	Frameshift	19/28	-	1
12-106838297-T-C	c.2012T>C	p.L671P	Missense	19/28	-	1
12-106838299-A-G	c.2014A>G	p.I672V	Missense	19/28	-	1
12-106838301-C-A	c.2016C>A	p.I672=	Synonymous	19/28	-	1
12-106838301-C-T	c.2016C>T	p.I672=	Synonymous	19/28	-	2
12-106838320-C-A	c.2035C>A	p.Q679K	Missense	19/28	-	1
12-106838321-A-T	c.2036A>T	p.Q679L	Missense	19/28	-	1
12-106838322-G-C	c.2037G>C	p.Q679H	Missense	19/28	-	1
12-106838322-G-T	c.2037G>T	p.Q679H	Missense	19/28	-	1
12-106838324-CA-TT	c.2039_2040delinsTT	p.S680F	Missense	19/28	-	1
12-106838326-C-T	c.2041C>T	p.P681S	Missense	19/28	-	3
12-106838327-CG-AT	c.2042_2043delinsAT	p.P681H	Missense	19/28	-	2
12-106838327-C-T	c.2042C>T	p.P681L	Missense	19/28	-	5
12-106838328-G-A	c.2043G>A	p.P681=	Synonymous	19/28	-	1
12-106838329-A-G	c.2044A>G	p.R682G	Missense	19/28	-	2
12-106838329-AG-CA	c.2044_2045delinsCA	p.R682Q	Missense	19/28	-	1
12-106838332-A-C	c.2047A>C	p.N683H	Missense	19/28	-	1
12-106838332-A-G	c.2047A>G	p.N683D	Missense	19/28	-	1
12-106838338-TAT-AAG	c.2053_2055delinsAAG	p.Y685K	Missense	19/28	-	2
12-106838340-T-A	c.2055T>A	p.Y685*	Nonsense	19/28	-	1
12-106838340-T-C	c.2055T>C	p.Y685=	Synonymous	19/28	-	19
12-106838340-T-G	c.2055T>G	p.Y685*	Nonsense	19/28	-	4
12-106838341-C-A	c.2056C>A	p.Q686K	Missense	19/28	-	1
12-106838341-C-T	c.2056C>T	p.Q686*	Nonsense	19/28	-	1
12-106838342-A-G	c.2057A>G	p.Q686R	Missense	19/28	-	1
12-106838348-C-T	c.2063C>T	p.A688V	Missense	19/28	-	1
12-106838349-C-A	c.2064C>A	p.A688=	Synonymous	19/28	-	1
12-106838350-A-G	c.2065A>G	p.M689V	Missense	19/28	-	1
12-106838351-TG-T	c.2070del	p.K691Nfs*7	Frameshift	19/28	-	1
12-106838355-GA-G	c.2073del	p.K691Nfs*7	Frameshift	19/28	-	1
12-106838359-C-A	c.2074C>A	p.Q692K	Missense	19/28	-	1
12-106838359-C-T	c.2074C>T	p.Q692*	Nonsense	19/28	-	1
12-106838364-C-T	c.2079C>T	p.A693=	Synonymous	19/28	-	1
12-106838367-G-C	c.2082G>C	p.M694I	Missense	19/28	-	1
12-106838369-G-T	c.2083+1G>T	-	IntronicSNV	-	19/27	1
12-106838423-A-G	c.2083+55A>G	-	IntronicSNV	-	19/27	1
12-106839951-A-T	c.2083+1583A>T	-	IntronicSNV	-	19/27	1
12-106840017-A-T	c.2083+1649A>T	-	IntronicSNV	-	19/27	1
12-106840089-C-T	c.2083+1721C>T	-	IntronicSNV	-	19/27	1
12-106840155-G-A	c.2083+1787G>A	-	IntronicSNV	-	19/27	1
12-106840159-G-A	c.2083+1791G>A	-	IntronicSNV	-	19/27	1
12-106840189-T-C	c.2083+1821T>C	-	IntronicSNV	-	19/27	1
12-106840297-T-C	c.2083+1929T>C	-	IntronicSNV	-	19/27	1
12-106840338-T-C	c.2083+1970T>C	-	IntronicSNV	-	19/27	1
12-106840620-C-T	c.2083+2252C>T	-	IntronicSNV	-	19/27	1
12-106840621-A-G	c.2083+2253A>G	-	IntronicSNV	-	19/27	1
12-106840621-A-T	c.2083+2253A>T	-	IntronicSNV	-	19/27	1
12-106845315-A-G	c.2084-2965A>G	-	IntronicSNV	-	19/27	1
12-106848245-A-C	c.2084-35A>C	-	IntronicSNV	-	19/27	1
12-106848265-C-G	c.2084-15C>G	-	IntronicSNV	-	19/27	1
12-106848265-C-T	c.2084-15C>T	-	IntronicSNV	-	19/27	1
12-106848274-A-G	c.2084-6A>G	-	IntronicSNV	-	19/27	1
12-106848289-G-C	c.2093G>C	p.G698A	Missense	20/28	-	1
12-106848292-A-G	c.2096A>G	p.Y699C	Missense	20/28	-	1
12-106848292-A-T	c.2096A>T	p.Y699F	Missense	20/28	-	2
12-106848295-A-C	c.2099A>C	p.N700T	Missense	20/28	-	1
12-106848301-G-T	c.2105G>T	p.R702L	Missense	20/28	-	1
12-106848309-A-G	c.2113A>G	p.I705V	Missense	20/28	-	1
12-106848313-A-G	c.2117A>G	p.D706G	Missense	20/28	-	1
12-106848317-CTCTCATGTAT-C	c.2121_2130del	p.L708Yfs*2	Frameshift	20/28	-	1
12-106848320-C-T	c.2124C>T	p.L708=	Synonymous	20/28	-	1
12-106848330-C-T	c.2134C>T	p.L712=	Synonymous	20/28	-	1
12-106848332-A-C	c.2136A>C	p.L712=	Synonymous	20/28	-	1
12-106848332-A-G	c.2136A>G	p.L712=	Synonymous	20/28	-	2
12-106848332-A-T	c.2136A>T	p.L712=	Synonymous	20/28	-	1
12-106848339-C-T	c.2143C>T	p.P715S	Missense	20/28	-	1
12-106848343-A-C	c.2147A>C	p.Q716P	Missense	20/28	-	1
12-106848348-C-T	c.2152C>T	p.P718S	Missense	20/28	-	2
12-106848351-A-G	c.2155A>G	p.M719V	Missense	20/28	-	1
12-106848355-T-C	c.2159T>C	p.V720A	Missense	20/28	-	2
12-106848357-A-T	c.2161A>T	p.K721*	Nonsense	20/28	-	1
12-106848356-TAAG-T	c.2162_2164del	p.K721del	InFrameDeletion	20/28	-	1
12-106848360-A-G	c.2164A>G	p.T722A	Missense	20/28	-	1
12-106848366-A-C	c.2170A>C	p.T724P	Missense	20/28	-	3
12-106848367-CC-TG	c.2171_2172delinsTG	p.T724M	Missense	20/28	-	1
12-106848369-A-G	c.2173A>G	p.I725V	Missense	20/28	-	1
12-106848377-G-A	c.2181G>A	p.L727=	Synonymous	20/28	-	2
12-106848379-T-C	c.2183T>C	p.I728T	Missense	20/28	-	1
12-106848380-A-G	c.2184A>G	p.I728M	Missense	20/28	-	1
12-106848381-G-C	c.2185G>C	p.E729Q	Missense	20/28	-	2
12-106848385-T-C	c.2189T>C	p.F730S	Missense	20/28	-	1
12-106848387-G-C	c.2191G>C	p.E731Q	Missense	20/28	-	2
12-106848392-A-G	c.2196A>G	p.K732=	Synonymous	20/28	-	1
12-106848395-G-A	c.2199G>A	p.L733=	Synonymous	20/28	-	1
12-106848396-C-T	c.2200C>T	p.P734S	Missense	20/28	-	2
12-106848397-C-T	c.2201C>T	p.P734L	Missense	20/28	-	1
12-106848400-C-T	c.2204C>T	p.A735V	Missense	20/28	-	1
12-106848401-T-A	c.2205T>A	p.A735=	Synonymous	20/28	-	1
12-106848401-T-C	c.2205T>C	p.A735=	Synonymous	20/28	-	1
12-106848401-T-G	c.2205T>G	p.A735=	Synonymous	20/28	-	1
12-106848403-G-C	c.2207G>C	p.G736A	Missense	20/28	-	1
12-106848405-C-A	c.2209C>A	p.Q737K	Missense	20/28	-	1
12-106848407-G-C	c.2211G>C	p.Q737H	Missense	20/28	-	1
12-106848407-G-T	c.2211G>T	p.Q737H	Missense	20/28	-	1
12-106848411-G-A	c.2215G>A	p.A739T	Missense	20/28	-	1
12-106848414-A-G	c.2218A>G	p.T740A	Missense	20/28	-	14
12-106848415-C-G	c.2219C>G	p.T740R	Missense	20/28	-	3
12-106848416-A-T	c.2220A>T	p.T740=	Synonymous	20/28	-	1
12-106848427-T-C	c.2231T>C	p.M744T	Missense	20/28	-	1
12-106848433-A-G	c.2237A>G	p.Y746C	Missense	20/28	-	4
12-106848435-AG-CC	c.2239_2240delinsCC	p.S747P	Missense	20/28	-	1
12-106848441-T-C	c.2245T>C	p.Y749H	Missense	20/28	-	1
12-106848444-G-A	c.2248G>A	p.D750N	Missense	20/28	-	4
12-106848446-T-C	c.2250T>C	p.D750=	Synonymous	20/28	-	1
12-106848450-G-A	c.2254G>A	p.E752K	Missense	20/28	-	1
12-106848451-A-G	c.2255A>G	p.E752G	Missense	20/28	-	1
12-106848462-G-A	c.2266G>A	p.V756I	Missense	20/28	-	1
12-106848469-A-G	c.2273A>G	p.N758S	Missense	20/28	-	1
12-106848471-A-C	c.2275A>C	p.K759Q	Missense	20/28	-	1
12-106848474-G-A	c.2278G>A	p.A760T	Missense	20/28	-	3
12-106848474-G-T	c.2278G>T	p.A760S	Missense	20/28	-	1
12-106848483-G-A	c.2287G>A	p.D763N	Missense	20/28	-	1
12-106848486-A-G	c.2290A>G	p.R764G	Missense	20/28	-	1
12-106848487-G-A	c.2291G>A	p.R764K	Missense	20/28	-	1
12-106848487-G-C	c.2291G>C	p.R764T	Missense	20/28	-	1
12-106848489-G-A	c.2293G>A	p.G765S	Missense	20/28	-	1
12-106848490-G-A	c.2293+1G>A	-	IntronicSNV	-	20/27	1
12-106848777-GT-G	c.2293+292del	-	IntronicDeletion	-	20/27	1
12-106850914-AGGCTTTGGGC-A	c.2294_2303del	p.G765Vfs*12	SpliceAcceptorDeletion	21/28	-	1
12-106850916-GC-AG	c.2294_2295delinsAG	p.G765E	Missense	21/28	-	1
12-106850916-G-T	c.2294G>T	p.G765V	Missense	21/28	-	1
12-106850917-GCTTTGGGCGT-G	c.2295_2304del	p.F766Afs*11	SpliceAcceptorDeletion	21/28	-	1
12-106850924-C-A	c.2302C>A	p.R768S	Missense	21/28	-	1
12-106850924-C-T	c.2302C>T	p.R768C	Missense	21/28	-	7
12-106850925-G-A	c.2303G>A	p.R768H	Missense	21/28	-	12
12-106850929-C-CGTAA	c.2307_2308insGTAA	p.L770Vfs*5	Frameshift	21/28	-	1
12-106850933-G-A	c.2311G>A	p.V771I	Missense	21/28	-	1
12-106850934-T-C	c.2312T>C	p.V771A	Missense	21/28	-	1
12-106850942-A-C	c.2320A>C	p.N774H	Missense	21/28	-	2
12-106850944-T-G	c.2322T>G	p.N774K	Missense	21/28	-	2
12-106850954-A-G	c.2332A>G	p.T778A	Missense	21/28	-	1
12-106850955-C-T	c.2333C>T	p.T778M	Missense	21/28	-	1
12-106850956-G-A	c.2334G>A	p.T778=	Synonymous	21/28	-	2
12-106850956-G-C	c.2334G>C	p.T778=	Synonymous	21/28	-	1
12-106850956-G-T	c.2334G>T	p.T778=	Synonymous	21/28	-	1
12-106850961-A-G	c.2339A>G	p.K780R	Missense	21/28	-	1
12-106850964-G-A	c.2342G>A	p.R781Q	Missense	21/28	-	2
12-106850970-C-T	c.2348C>T	p.T783I	Missense	21/28	-	1
12-106850973-A-G	c.2351A>G	p.N784S	Missense	21/28	-	1
12-106850976-A-T	c.2354A>T	p.Q785L	Missense	21/28	-	1
12-106850977-G-A	c.2355G>A	p.Q785=	Synonymous	21/28	-	2
12-106850979-C-T	c.2357C>T	p.T786I	Missense	21/28	-	2
12-106850984-G-A	c.2362G>A	p.D788N	Missense	21/28	-	1
12-106850984-G-C	c.2362G>C	p.D788H	Missense	21/28	-	1
12-106850985-A-G	c.2363A>G	p.D788G	Missense	21/28	-	2
12-106850990-G-C	c.2368G>C	p.V790L	Missense	21/28	-	3
12-106850990-G-T	c.2368G>T	p.V790L	Missense	21/28	-	1
12-106850996-G-T	c.2374G>T	p.G792W	Missense	21/28	-	1
12-106850999-C-T	c.2377C>T	p.P793S	Missense	21/28	-	1
12-106851002-CA-C	c.2380del	p.M794Cfs*16	Frameshift	21/28	-	1
12-106851007-G-C	c.2385G>C	p.L795F	Missense	21/28	-	1
12-106851007-G-T	c.2385G>T	p.L795F	Missense	21/28	-	1
12-106851008-G-A	c.2386G>A	p.D796N	Missense	21/28	-	2
12-106851008-G-T	c.2386G>T	p.D796Y	Missense	21/28	-	1
12-106851012-C-T	c.2390C>T	p.A797V	Missense	21/28	-	1
12-106851015-C-T	c.2393C>T	p.A798V	Missense	21/28	-	1
12-106851021-G-A	c.2399G>A	p.R800K	Missense	21/28	-	2
12-106851026-C-T	c.2404C>T	p.P802S	Missense	21/28	-	2
12-106851029-A-G	c.2407A>G	p.I803V	Missense	21/28	-	1
12-106851036-G-A	c.2414G>A	p.R805Q	Missense	21/28	-	2
12-106851041-G-A	c.2419G>A	p.E807K	Missense	21/28	-	1
12-106851050-G-A	c.2428G>A	p.D810N	Missense	21/28	-	1
12-106851050-G-C	c.2428G>C	p.D810H	Missense	21/28	-	1
12-106851053-G-A	c.2431G>A	p.A811T	Missense	21/28	-	1
12-106851054-C-A	c.2432C>A	p.A811E	Missense	21/28	-	1
12-106851056-G-T	c.2434G>T	p.D812Y	Missense	21/28	-	1
12-106851065-TG-AC	c.2443_2444delinsAC	p.C815T	Missense	21/28	-	1
12-106851069-C-T	c.2447C>T	p.S816F	Missense	21/28	-	4
12-106851074-G-A	c.2452G>A	p.G818S	Missense	21/28	-	1
12-106851350-T-G	c.2452+276T>G	-	IntronicSNV	-	21/27	1
12-106852967-C-T	c.2453-62C>T	-	IntronicSNV	-	21/27	1
12-106853033-G-A	c.2457G>A	p.E819=	Synonymous	22/28	-	1
12-106853035-A-C	c.2459A>C	p.K820T	Missense	22/28	-	1
12-106853037-G-C	c.2461G>C	p.V821L	Missense	22/28	-	1
12-106853047-A-G	c.2471A>G	p.K824R	Missense	22/28	-	1
12-106853052-G-C	c.2476G>C	p.V826L	Missense	22/28	-	1
12-106853052-G-T	c.2476G>T	p.V826L	Missense	22/28	-	1
12-106853056-T-C	c.2480T>C	p.L827P	Missense	22/28	-	1
12-106853058-G-T	c.2482G>T	p.V828L	Missense	22/28	-	1
12-106853058-TG-T	c.2482del	p.V828*	Frameshift	22/28	-	1
12-106853059-T-C	c.2483T>C	p.V828A	Missense	22/28	-	1
12-106853062-A-G	c.2486A>G	p.N829S	Missense	22/28	-	3
12-106853068-C-T	c.2492C>T	p.S831F	Missense	22/28	-	1
12-106853069-C-T	c.2493C>T	p.S831=	Synonymous	22/28	-	1
12-106853072-GC-G	c.2499del	p.T834Qfs*2	Frameshift	22/28	-	1
12-106853077-C-T	c.2501C>T	p.T834I	Missense	22/28	-	1
12-106853083-C-T	c.2507C>T	p.T836I	Missense	22/28	-	1
12-106853091-C-T	c.2515C>T	p.P839S	Missense	22/28	-	7
12-106853092-C-T	c.2516C>T	p.P839L	Missense	22/28	-	1
12-106853094-TTG-ATC	c.2518_2520delinsATC	p.L840I	Missense	22/28	-	1
12-106853101-G-A	c.2525G>A	p.G842E	Missense	22/28	-	1
12-106853102-A-T	c.2526A>T	p.G842=	Synonymous	22/28	-	2
12-106853109-GTA-TTT	c.2533_2535delinsTTT	p.V845F	Missense	22/28	-	1
12-106853113-C-T	c.2537C>T	p.P846L	Missense	22/28	-	1
12-106853124-C-T	c.2548C>T	p.Q850*	Nonsense	22/28	-	1
12-106853133-G-A	c.2557G>A	p.D853N	Missense	22/28	-	1
12-106853133-G-T	c.2557G>T	p.D853Y	Missense	22/28	-	1
12-106853140-C-T	c.2564C>T	p.P855L	Missense	22/28	-	1
12-106853142-A-C	c.2566A>C	p.I856L	Missense	22/28	-	1
12-106853142-A-T	c.2566A>T	p.I856L	Missense	22/28	-	1
12-106853144-A-C	c.2568A>C	p.I856=	Synonymous	22/28	-	1
12-106853144-A-T	c.2568A>T	p.I856=	Synonymous	22/28	-	1
12-106853147-G-A	c.2570+1G>A	-	IntronicSNV	-	22/27	5
12-106853151-G-A	c.2570+5G>A	-	IntronicSNV	-	22/27	1
12-106857272-G-A	c.2587G>A	p.D863N	Missense	23/28	-	2
12-106857272-G-T	c.2587G>T	p.D863Y	Missense	23/28	-	1
12-106857277-A-AGTGCTATTACTATTAAGAACTAGGAGTTGAGTC	c.2592_2593insGTGCTATTACTATTAAGAACTAGGAGTTGAGTC	p.S864_Y865insVLLLLRTRS*	Frameshift	23/28	-	1
12-106857280-T-C	c.2595T>C	p.Y865=	Synonymous	23/28	-	1
12-106857286-A-C	c.2601A>C	p.E867D	Missense	23/28	-	1
12-106857286-A-T	c.2601A>T	p.E867D	Missense	23/28	-	1
12-106857284-G-GA	c.2604dup	p.V869Sfs*8	Frameshift	23/28	-	2
12-106857290-G-A	c.2605G>A	p.V869M	Missense	23/28	-	4
12-106857290-G-C	c.2605G>C	p.V869L	Missense	23/28	-	1
12-106857295-G-A	c.2610G>A	p.M870I	Missense	23/28	-	1
12-106857295-G-C	c.2610G>C	p.M870I	Missense	23/28	-	1
12-106857295-G-T	c.2610G>T	p.M870I	Missense	23/28	-	1
12-106857296-A-C	c.2611A>C	p.I871L	Missense	23/28	-	1
12-106857296-A-T	c.2611A>T	p.I871L	Missense	23/28	-	1
12-106857304-A-C	c.2619A>C	p.S873=	Synonymous	23/28	-	1
12-106857304-A-G	c.2619A>G	p.S873=	Synonymous	23/28	-	1
12-106857304-A-T	c.2619A>T	p.S873=	Synonymous	23/28	-	1
12-106857314-G-T	c.2629G>T	p.D877Y	Missense	23/28	-	1
12-106857315-A-G	c.2630A>G	p.D877G	Missense	23/28	-	1
12-106857317-G-A	c.2632G>A	p.A878T	Missense	23/28	-	1
12-106857318-C-G	c.2633C>G	p.A878G	Missense	23/28	-	1
12-106857318-C-CT	c.2637dup	p.L880Sfs*41	Frameshift	23/28	-	1
12-106857324-T-G	c.2639T>G	p.L880R	Missense	23/28	-	1
12-106857329-A-C	c.2644A>C	p.K882Q	Missense	23/28	-	1
12-106857333-T-C	c.2648T>C	p.M883T	Missense	23/28	-	3
12-106857348-CA-AC	c.2663_2664delinsAC	p.T888N	Missense	23/28	-	1
12-106857351-G-A	c.2666G>A	p.R889K	Missense	23/28	-	1
12-106857350-AG-A	c.2667del	p.R889Sfs*21	Frameshift	23/28	-	1
12-106857353-C-A	c.2668C>A	p.R890S	Missense	23/28	-	1
12-106857353-C-T	c.2668C>T	p.R890C	Missense	23/28	-	1
12-106857363-T-C	c.2678T>C	p.I893T	Missense	23/28	-	1
12-106857365-GGA-TGT	c.2680_2682delinsTGT	p.G894C	Missense	23/28	-	1
12-106857371-A-T	c.2686A>T	p.K896*	Nonsense	23/28	-	3
12-106857381-G-A	c.2696G>A	p.S899N	Missense	23/28	-	1
12-106857383-C-A	c.2698C>A	p.R900S	Missense	23/28	-	1
12-106857383-C-T	c.2698C>T	p.R900C	Missense	23/28	-	3
12-106857384-G-A	c.2699G>A	p.R900H	Missense	23/28	-	1
12-106857386-C-T	c.2701C>T	p.H901Y	Missense	23/28	-	2
12-106857388-T-C	c.2703T>C	p.H901=	Synonymous	23/28	-	4
12-106857398-G-T	c.2713G>T	p.G905C	Missense	23/28	-	1
12-106859917-G-A	c.2713+2519G>A	-	IntronicSNV	-	23/27	1
12-106870498-G-A	c.2713+13100G>A	-	IntronicSNV	-	23/27	1
12-106870930-TG-T	c.2713+13538del	-	IntronicDeletion	-	23/27	1
12-106872285-CT-C	c.2713+14897del	-	IntronicDeletion	-	23/27	1
12-106873778-G-A	c.2714-16055G>A	-	IntronicSNV	-	23/27	1
12-106873778-G-T	c.2714-16055G>T	-	IntronicSNV	-	23/27	1
12-106877825-C-T	c.2714-12008C>T	-	IntronicSNV	-	23/27	1
12-106889846-G-C	c.2727G>C	p.L909F	Missense	24/28	-	1
12-106889846-G-T	c.2727G>T	p.L909F	Missense	24/28	-	2
12-106889847-A-T	c.2728A>T	p.I910F	Missense	24/28	-	4
12-106889849-C-A	c.2730C>A	p.I910=	Synonymous	24/28	-	1
12-106889849-C-G	c.2730C>G	p.I910M	Missense	24/28	-	1
12-106889849-C-T	c.2730C>T	p.I910=	Synonymous	24/28	-	1
12-106889850-G-A	c.2731G>A	p.V911I	Missense	24/28	-	4
12-106889850-GTC-ATG	c.2731_2733delinsATG	p.V911M	Missense	24/28	-	1
12-106889859-G-A	c.2740G>A	p.E914K	Missense	24/28	-	2
12-106889867-G-T	c.2748G>T	p.M916I	Missense	24/28	-	1
12-106889868-C-T	c.2749C>T	p.P917S	Missense	24/28	-	1
12-106889886-A-G	c.2767A>G	p.I923V	Missense	24/28	-	1
12-106889893-C-A	c.2774C>A	p.P925Q	Missense	24/28	-	1
12-106889893-C-T	c.2774C>T	p.P925L	Missense	24/28	-	5
12-106889896-A-G	c.2777A>G	p.D926G	Missense	24/28	-	2
12-106889897-C-A	c.2778C>A	p.D926E	Missense	24/28	-	2
12-106889897-C-G	c.2778C>G	p.D926E	Missense	24/28	-	3
12-106889908-A-C	c.2789A>C	p.N930T	Missense	24/28	-	1
12-106889912-A-C	c.2793A>C	p.P931=	Synonymous	24/28	-	2
12-106889919-T-C	c.2800T>C	p.F934L	Missense	24/28	-	1
12-106889921-C-A	c.2802C>A	p.F934L	Missense	24/28	-	1
12-106889921-C-G	c.2802C>G	p.F934L	Missense	24/28	-	1
12-106889920-T-A	c.2801T>A	p.F934Y	Missense	24/28	-	1
12-106889922-C-T	c.2803C>T	p.P935S	Missense	24/28	-	6
12-106889928-C-T	c.2809C>T	p.R937*	Nonsense	24/28	-	2
12-106889929-G-A	c.2810G>A	p.R937Q	Missense	24/28	-	2
12-106889934-A-T	c.2815A>T	p.T939S	Missense	24/28	-	1
12-106889935-C-T	c.2816C>T	p.T939M	Missense	24/28	-	2
12-106889936-G-T	c.2817G>T	p.T939=	Synonymous	24/28	-	1
12-106889945-C-T	c.2817+9C>T	-	IntronicSNV	-	24/27	1
12-106889966-T-A	c.2817+30T>A	-	IntronicSNV	-	24/27	2
12-106889966-T-C	c.2817+30T>C	-	IntronicSNV	-	24/27	1
12-106890059-C-T	c.2817+123C>T	-	IntronicSNV	-	24/27	6
12-106890135-A-G	c.2817+199A>G	-	IntronicSNV	-	24/27	4
12-106890151-G-A	c.2817+215G>A	-	IntronicSNV	-	24/27	3
12-106890419-A-G	c.2818-111A>G	-	IntronicSNV	-	24/27	1
12-106890532-G-A	c.2820G>A	p.V940=	Synonymous	25/28	-	1
12-106890532-G-C	c.2820G>C	p.V940=	Synonymous	25/28	-	1
12-106890532-G-T	c.2820G>T	p.V940=	Synonymous	25/28	-	1
12-106890533-G-A	c.2821G>A	p.G941R	Missense	25/28	-	3
12-106890533-G-C	c.2821G>C	p.G941R	Missense	25/28	-	2
12-106890541-C-A	c.2829C>A	p.L943=	Synonymous	25/28	-	1
12-106890541-C-G	c.2829C>G	p.L943=	Synonymous	25/28	-	1
12-106890541-C-T	c.2829C>T	p.L943=	Synonymous	25/28	-	1
12-106890543-T-C	c.2831T>C	p.I944T	Missense	25/28	-	2
12-106890545-G-C	c.2833G>C	p.E945Q	Missense	25/28	-	1
12-106890551-C-G	c.2839C>G	p.L947V	Missense	25/28	-	2
12-106890555-C-T	c.2843C>T	p.A948V	Missense	25/28	-	1
12-106890557-G-C	c.2845G>C	p.G949R	Missense	25/28	-	3
12-106890560-A-C	c.2848A>C	p.K950Q	Missense	25/28	-	1
12-106890562-G-A	c.2850G>A	p.K950=	Synonymous	25/28	-	1
12-106890563-G-A	c.2851G>A	p.A951T	Missense	25/28	-	1
12-106890563-G-T	c.2851G>T	p.A951S	Missense	25/28	-	1
12-106890564-C-G	c.2852C>G	p.A951G	Missense	25/28	-	1
12-106890566-G-C	c.2854G>C	p.G952R	Missense	25/28	-	1
12-106890567-GT-AG	c.2855_2856delinsAG	p.G952E	Missense	25/28	-	1
12-106890572-C-T	c.2860C>T	p.L954=	Synonymous	25/28	-	1
12-106890575-G-T	c.2863G>T	p.D955Y	Missense	25/28	-	1
12-106890577-C-T	c.2865C>T	p.D955=	Synonymous	25/28	-	1
12-106890579-G-A	c.2867G>A	p.G956D	Missense	25/28	-	2
12-106890582-G-A	c.2870G>A	p.R957K	Missense	25/28	-	1
12-106890582-G-T	c.2870G>T	p.R957I	Missense	25/28	-	5
12-106890586-C-T	c.2874C>T	p.F958=	Synonymous	25/28	-	1
12-106890587-C-T	c.2875C>T	p.H959Y	Missense	25/28	-	6
12-106890589-C-T	c.2877C>T	p.H959=	Synonymous	25/28	-	6
12-106890593-G-A	c.2881G>A	p.G961S	Missense	25/28	-	1
12-106890594-G-T	c.2882G>T	p.G961V	Missense	25/28	-	2
12-106890601-G-A	c.2889G>A	p.A963=	Synonymous	25/28	-	3
12-106890601-G-C	c.2889G>C	p.A963=	Synonymous	25/28	-	2
12-106890601-G-T	c.2889G>T	p.A963=	Synonymous	25/28	-	2
12-106890608-G-A	c.2896G>A	p.G966S	Missense	25/28	-	2
12-106890610-C-T	c.2898C>T	p.G966=	Synonymous	25/28	-	1
12-106890617-G-A	c.2905G>A	p.V969M	Missense	25/28	-	1
12-106890622-G-A	c.2910G>A	p.K970=	Synonymous	25/28	-	1
12-106890623-G-A	c.2911G>A	p.D971N	Missense	25/28	-	4
12-106890624-A-T	c.2912A>T	p.D971V	Missense	25/28	-	1
12-106890625-T-A	c.2913T>A	p.D971E	Missense	25/28	-	1
12-106890625-T-G	c.2913T>G	p.D971E	Missense	25/28	-	1
12-106890626-G-A	c.2914G>A	p.V972M	Missense	25/28	-	3
12-106890626-GTG-ATC	c.2914_2916delinsATC	p.V972I	Missense	25/28	-	1
12-106890632-G-T	c.2920G>T	p.E974*	Nonsense	25/28	-	3
12-106890633-A-T	c.2921A>T	p.E974V	Missense	25/28	-	3
12-106890634-G-C	c.2922G>C	p.E974D	Missense	25/28	-	1
12-106890634-G-T	c.2922G>T	p.E974D	Missense	25/28	-	1
12-106890640-C-T	c.2928C>T	p.L976=	Synonymous	25/28	-	1
12-106890641-G-A	c.2929G>A	p.V977I	Missense	25/28	-	5
12-106890641-G-T	c.2929G>T	p.V977F	Missense	25/28	-	1
12-106890644-C-T	c.2932C>T	p.R978C	Missense	25/28	-	6
12-106890645-G-A	c.2933G>A	p.R978H	Missense	25/28	-	4
12-106890645-G-T	c.2933G>T	p.R978L	Missense	25/28	-	2
12-106890656-A-G	c.2944A>G	p.N982D	Missense	25/28	-	1
12-106890666-G-C	c.2954G>C	p.G985A	Missense	25/28	-	1
12-106890667-G-A	c.2955G>A	p.G985=	Synonymous	25/28	-	3
12-106890668-AA-CC	c.2956_2957delinsCC	p.K986P	Missense	25/28	-	1
12-106890673-AC-A	c.2961del	p.Y988Mfs*11	Frameshift	25/28	-	1
12-106890673-C-G	c.2961C>G	p.D987E	Missense	25/28	-	1
12-106890684-C-T	c.2972C>T	p.S991F	Missense	25/28	-	2
12-106890685-C-A	c.2973C>A	p.S991=	Synonymous	25/28	-	2
12-106890685-C-G	c.2973C>G	p.S991=	Synonymous	25/28	-	2
12-106890685-C-T	c.2973C>T	p.S991=	Synonymous	25/28	-	4
12-106890686-G-A	c.2974G>A	p.G992S	Missense	25/28	-	4
12-106890686-G-T	c.2974G>T	p.G992C	Missense	25/28	-	1
12-106890687-G-C	c.2975G>C	p.G992A	Missense	25/28	-	1
12-106890687-G-T	c.2975G>T	p.G992V	Missense	25/28	-	1
12-106890726-A-G	c.2984+30A>G	-	IntronicSNV	-	25/27	1
12-106890755-A-T	c.2984+59A>T	-	IntronicSNV	-	25/27	1
12-106890815-G-A	c.2984+119G>A	-	IntronicSNV	-	25/27	1
12-106891164-G-A	c.2984+468G>A	-	IntronicSNV	-	25/27	1
12-106892077-C-G	c.2984+1381C>G	-	IntronicSNV	-	25/27	1
12-106893863-G-A	c.2985-1238G>A	-	IntronicSNV	-	25/27	8
12-106893863-G-T	c.2985-1238G>T	-	IntronicSNV	-	25/27	8
12-106893930-A-G	c.2985-1171A>G	-	IntronicSNV	-	25/27	8
12-106893930-A-T	c.2985-1171A>T	-	IntronicSNV	-	25/27	8
12-106893996-A-T	c.2985-1105A>T	-	IntronicSNV	-	25/27	2
12-106895060-A-G	c.2985-41A>G	-	IntronicSNV	-	25/27	1
12-106895117-T-C	c.3001T>C	p.Y1001H	Missense	26/28	-	2
12-106895124-A-G	c.3008A>G	p.Y1003C	Missense	26/28	-	1
12-106895130-G-A	c.3014G>A	p.G1005D	Missense	26/28	-	1
12-106895130-G-C	c.3014G>C	p.G1005A	Missense	26/28	-	1
12-106895134-C-A	c.3018C>A	p.P1006=	Synonymous	26/28	-	2
12-106895134-C-G	c.3018C>G	p.P1006=	Synonymous	26/28	-	2
12-106895134-C-T	c.3018C>T	p.P1006=	Synonymous	26/28	-	4
12-106895135-G-T	c.3019G>T	p.V1007L	Missense	26/28	-	1
12-106895140-C-G	c.3024C>G	p.Y1008*	Nonsense	26/28	-	1
12-106895142-A-G	c.3026A>G	p.Y1009C	Missense	26/28	-	2
12-106895144-C-A	c.3028C>A	p.Q1010K	Missense	26/28	-	1
12-106895162-G-A	c.3046G>A	p.V1016M	Missense	26/28	-	2
12-106895167-A-G	c.3051A>G	p.L1017=	Synonymous	26/28	-	1
12-106895167-A-T	c.3051A>T	p.L1017=	Synonymous	26/28	-	1
12-106895168-G-A	c.3052G>A	p.D1018N	Missense	26/28	-	1
12-106895168-G-T	c.3052G>T	p.D1018Y	Missense	26/28	-	1
12-106895171-A-G	c.3055A>G	p.K1019E	Missense	26/28	-	1
12-106895170-T-TA	c.3058dup	p.M1020Nfs*18	Frameshift	26/28	-	1
12-106895180-G-A	c.3064G>A	p.A1022T	Missense	26/28	-	1
12-106895181-C-A	c.3065C>A	p.A1022D	Missense	26/28	-	1
12-106895184-G-A	c.3068G>A	p.R1023Q	Missense	26/28	-	2
12-106895184-G-T	c.3068G>T	p.R1023L	Missense	26/28	-	1
12-106895189-C-G	c.3073C>G	p.R1025G	Missense	26/28	-	1
12-106895190-G-A	c.3074G>A	p.R1025Q	Missense	26/28	-	1
12-106895198-C-G	c.3082C>G	p.R1028G	Missense	26/28	-	1
12-106895204-G-A	c.3088G>A	p.V1030I	Missense	26/28	-	3
12-106895207-C-T	c.3091C>T	p.L1031F	Missense	26/28	-	1
12-106895211-C-T	c.3095C>T	p.T1032I	Missense	26/28	-	5
12-106895214-G-C	c.3098G>C	p.R1033T	Missense	26/28	-	3
12-106895214-G-T	c.3098G>T	p.R1033M	Missense	26/28	-	1
12-106895215-G-A	c.3098+1G>A	-	IntronicSNV	-	26/27	1
12-106895255-C-CA	c.3098+43dup	-	IntronicInsertion	-	26/27	2
12-106895439-G-T	c.3098+225G>T	-	IntronicSNV	-	26/27	1
12-106897862-A-G	c.3102A>G	p.Q1034=	Synonymous	27/28	-	2
12-106897864-C-A	c.3104C>A	p.P1035H	Missense	27/28	-	1
12-106897865-C-A	c.3105C>A	p.P1035=	Synonymous	27/28	-	1
12-106897867-C-T	c.3107C>T	p.T1036I	Missense	27/28	-	3
12-106897871-A-C	c.3111A>C	p.E1037D	Missense	27/28	-	1
12-106897871-A-T	c.3111A>T	p.E1037D	Missense	27/28	-	2
12-106897873-G-T	c.3113G>T	p.G1038V	Missense	27/28	-	1
12-106897875-C-G	c.3115C>G	p.R1039G	Missense	27/28	-	1
12-106897875-C-T	c.3115C>T	p.R1039W	Missense	27/28	-	2
12-106897876-G-A	c.3116G>A	p.R1039Q	Missense	27/28	-	1
12-106897881-C-T	c.3121C>T	p.R1041C	Missense	27/28	-	2
12-106897882-G-A	c.3122G>A	p.R1041H	Missense	27/28	-	1
12-106897896-C-T	c.3136C>T	p.R1046C	Missense	27/28	-	3
12-106897897-G-A	c.3137G>A	p.R1046H	Missense	27/28	-	8
12-106897897-G-C	c.3137G>C	p.R1046P	Missense	27/28	-	1
12-106897899-C-T	c.3139C>T	p.L1047F	Missense	27/28	-	1
12-106897900-T-C	c.3140T>C	p.L1047P	Missense	27/28	-	2
12-106897901-C-A	c.3141C>A	p.L1047=	Synonymous	27/28	-	1
12-106897901-C-G	c.3141C>G	p.L1047=	Synonymous	27/28	-	1
12-106897901-C-T	c.3141C>T	p.L1047=	Synonymous	27/28	-	2
12-106897905-G-A	c.3145G>A	p.E1049K	Missense	27/28	-	1
12-106897915-G-A	c.3155G>A	p.R1052H	Missense	27/28	-	1
12-106897923-T-C	c.3163T>C	p.L1055=	Synonymous	27/28	-	1
12-106897925-A-G	c.3165A>G	p.L1055=	Synonymous	27/28	-	1
12-106897925-A-C	c.3165A>C	p.L1055F	Missense	27/28	-	2
12-106897925-A-T	c.3165A>T	p.L1055F	Missense	27/28	-	2
12-106897928-C-T	c.3168C>T	p.I1056=	Synonymous	27/28	-	1
12-106897929-G-A	c.3169G>A	p.G1057S	Missense	27/28	-	1
12-106897930-G-A	c.3170G>A	p.G1057D	Missense	27/28	-	1
12-106897933-A-G	c.3173A>G	p.Y1058C	Missense	27/28	-	1
12-106897935-G-A	c.3175G>A	p.G1059R	Missense	27/28	-	4
12-106897953-C-T	c.3193C>T	p.L1065=	Synonymous	27/28	-	1
12-106897961-A-C	c.3201A>C	p.R1067S	Missense	27/28	-	2
12-106897961-A-T	c.3201A>T	p.R1067S	Missense	27/28	-	2
12-106897973-A-C	c.3213A>C	p.S1071=	Synonymous	27/28	-	1
12-106897973-A-G	c.3213A>G	p.S1071=	Synonymous	27/28	-	1
12-106897973-A-T	c.3213A>T	p.S1071=	Synonymous	27/28	-	1
12-106897974-A-C	c.3214A>C	p.S1072R	Missense	27/28	-	1
12-106897981-C-T	c.3221C>T	p.A1074V	Missense	27/28	-	6
12-106897984-T-A	c.3224T>A	p.F1075Y	Missense	27/28	-	2
12-106897996-T-G	c.3236T>G	p.V1079G	Missense	27/28	-	1
12-106897998-TG-AC	c.3238_3239delinsAC	p.C1080T	Missense	27/28	-	1
12-106898001-G-A	c.3241G>A	p.G1081R	Missense	27/28	-	1
12-106898001-G-C	c.3241G>C	p.G1081R	Missense	27/28	-	1
12-106898014-T-C	c.3254T>C	p.L1085P	Missense	27/28	-	1
12-106898020-G-C	c.3260G>C	p.G1087A	Missense	27/28	-	2
12-106898026-C-T	c.3266C>T	p.S1089F	Missense	27/28	-	1
12-106898029-G-T	c.3269G>T	p.G1090V	Missense	27/28	-	1
12-106898781-A-T	c.3272+749A>T	-	IntronicSNV	-	27/27	1
12-106898780-TA-T	c.3272+755del	-	IntronicDeletion	-	27/27	1
12-106901596-A-G	c.3273-1602A>G	-	IntronicSNV	-	27/27	1
12-106903201-C-G	c.3276C>G	p.C1092W	Missense	28/28	-	1
12-106903208-T-G	c.3283T>G	p.C1095G	Missense	28/28	-	1
12-106903209-G-A	c.3284G>A	p.C1095Y	Missense	28/28	-	2
12-106903219-C-T	c.3294C>T	p.S1098=	Synonymous	28/28	-	1
12-106903233-C-A	c.3308C>A	p.S1103Y	Missense	28/28	-	1
12-106903233-C-T	c.3308C>T	p.S1103F	Missense	28/28	-	5
12-106903237-C-A	c.3312C>A	p.L1104=	Synonymous	28/28	-	1
12-106903237-C-G	c.3312C>G	p.L1104=	Synonymous	28/28	-	1
12-106903237-C-T	c.3312C>T	p.L1104=	Synonymous	28/28	-	1
12-106903238-CGT-AAG	c.3313_3315delinsAAG	p.R1105K	Missense	28/28	-	1
12-106903238-C-T	c.3313C>T	p.R1105C	Missense	28/28	-	2
12-106903239-G-A	c.3314G>A	p.R1105H	Missense	28/28	-	1
12-106903242-T-C	c.3317T>C	p.I1106T	Missense	28/28	-	2
12-106903244-C-T	c.3319C>T	p.P1107S	Missense	28/28	-	1
12-106903245-C-T	c.3320C>T	p.P1107L	Missense	28/28	-	1
12-106903246-G-A	c.3321G>A	p.P1107=	Synonymous	28/28	-	3
12-106903246-G-C	c.3321G>C	p.P1107=	Synonymous	28/28	-	1
12-106903246-G-T	c.3321G>T	p.P1107=	Synonymous	28/28	-	1
12-106903251-C-A	c.3326C>A	p.A1109D	Missense	28/28	-	1
12-106903251-C-T	c.3326C>T	p.A1109V	Missense	28/28	-	2
12-106903254-G-A	c.3329G>A	p.C1110Y	Missense	28/28	-	1
12-106903262-C-T	c.3337C>T	p.L1113F	Missense	28/28	-	2
12-106903263-T-A	c.3338T>A	p.L1113H	Missense	28/28	-	1
12-106903263-T-C	c.3338T>C	p.L1113P	Missense	28/28	-	1
12-106903264-C-T	c.3339C>T	p.L1113=	Synonymous	28/28	-	2
12-106903265-T-A	c.3340T>A	p.F1114I	Missense	28/28	-	3
12-106903268-C-G	c.3343C>G	p.Q1115E	Missense	28/28	-	1
12-106903274-C-T	c.3349C>T	p.L1117=	Synonymous	28/28	-	2
12-106903276-A-C	c.3351A>C	p.L1117=	Synonymous	28/28	-	2
12-106903276-A-G	c.3351A>G	p.L1117=	Synonymous	28/28	-	2
12-106903276-A-T	c.3351A>T	p.L1117=	Synonymous	28/28	-	2
12-106903279-G-T	c.3354G>T	p.Q1118H	Missense	28/28	-	1
12-106903281-C-A	c.3356C>A	p.S1119Y	Missense	28/28	-	1
12-106903281-C-T	c.3356C>T	p.S1119F	Missense	28/28	-	1
12-106903283-A-G	c.3358A>G	p.M1120V	Missense	28/28	-	3
12-106903291-C-T	c.3366C>T	p.I1122=	Synonymous	28/28	-	1
12-106903302-T-A	c.3377T>A	p.L1126*	Nonsense	28/28	-	1
12-106903312-C-A	c.3387C>A	p.S1129=	Synonymous	28/28	-	1
12-106903312-C-G	c.3387C>G	p.S1129=	Synonymous	28/28	-	1
12-106903312-C-T	c.3387C>T	p.S1129=	Synonymous	28/28	-	2
12-106903315-G-C	c.3390G>C	p.K1130N	Missense	28/28	-	2
12-106903315-G-T	c.3390G>T	p.K1130N	Missense	28/28	-	1
12-106903321-T-C	c.3396T>C	p.N1132=	Synonymous	28/28	-	20
12-106903322-G-A	c.3397G>A	p.E1133K	Missense	28/28	-	1
12-106903674-A-G	c.*347A>G	-	3-UTRSNV	28/28	-	3