SOCS1

SOCS1 suppressor of cytokine signaling 1

Annotation transcript: NM_003745.2

1214 unique variant annotations were identified in 522 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
16-11348701-C-T	c.635G>A	p.*212=	Synonymous	2/2	-	1
16-11348704-AATC-A	c.630_632del	p.Q210_I211delinsH	MultiAAMissense	2/2	-	1
16-11348704-A-C	c.632T>G	p.I211S	Missense	2/2	-	1
16-11348706-C-A	c.630G>T	p.Q210H	Missense	2/2	-	10
16-11348706-C-G	c.630G>C	p.Q210H	Missense	2/2	-	22
16-11348707-T-A	c.629A>T	p.Q210L	Missense	2/2	-	1
16-11348707-T-C	c.629A>G	p.Q210R	Missense	2/2	-	3
16-11348708-G-A	c.628C>T	p.Q210*	Nonsense	2/2	-	5
16-11348708-G-T	c.628C>A	p.Q210K	Missense	2/2	-	1
16-11348709-G-A	c.627C>T	p.F209=	Synonymous	2/2	-	1
16-11348710-A-G	c.626T>C	p.F209S	Missense	2/2	-	3
16-11348710-A-T	c.626T>A	p.F209Y	Missense	2/2	-	1
16-11348711-A-G	c.625T>C	p.F209L	Missense	2/2	-	1
16-11348712-G-A	c.624C>T	p.P208=	Synonymous	2/2	-	1
16-11348712-G-C	c.624C>G	p.P208=	Synonymous	2/2	-	1
16-11348712-G-T	c.624C>A	p.P208=	Synonymous	2/2	-	1
16-11348713-G-A	c.623C>T	p.P208L	Missense	2/2	-	6
16-11348713-G-C	c.623C>G	p.P208R	Missense	2/2	-	2
16-11348713-GG-AA	c.622_623delinsTT	p.P208F	Missense	2/2	-	1
16-11348713-G-T	c.623C>A	p.P208H	Missense	2/2	-	2
16-11348714-G-A	c.622C>T	p.P208S	Missense	2/2	-	5
16-11348714-G-C	c.622C>G	p.P208A	Missense	2/2	-	2
16-11348714-G-T	c.622C>A	p.P208T	Missense	2/2	-	2
16-11348715-G-A	c.621C>T	p.F207=	Synonymous	2/2	-	1
16-11348715-G-T	c.621C>A	p.F207L	Missense	2/2	-	3
16-11348716-A-G	c.620T>C	p.F207S	Missense	2/2	-	2
16-11348715-G-C	c.621C>G	p.F207L	Missense	2/2	-	1
16-11348717-A-G	c.619T>C	p.F207L	Missense	2/2	-	2
16-11348719-G-A	c.617C>T	p.S206F	Missense	2/2	-	2
16-11348719-GA-TT	c.616_617delinsAA	p.S206N	Missense	2/2	-	1
16-11348719-G-C	c.617C>G	p.S206C	Missense	2/2	-	1
16-11348719-G-T	c.617C>A	p.S206Y	Missense	2/2	-	6
16-11348720-A-G	c.616T>C	p.S206P	Missense	2/2	-	1
16-11348720-A-T	c.616T>A	p.S206T	Missense	2/2	-	1
16-11348721-G-A	c.615C>T	p.S205=	Synonymous	2/2	-	1
16-11348721-G-C	c.615C>G	p.S205R	Missense	2/2	-	4
16-11348721-G-T	c.615C>A	p.S205R	Missense	2/2	-	3
16-11348723-T-G	c.613A>C	p.S205R	Missense	2/2	-	2
16-11348722-C-G	c.614G>C	p.S205T	Missense	2/2	-	6
16-11348722-C-T	c.614G>A	p.S205N	Missense	2/2	-	5
16-11348722-CT-GC	c.613_614delinsGC	p.S205A	Missense	2/2	-	1
16-11348724-C-A	c.612G>T	p.L204=	Synonymous	2/2	-	1
16-11348724-C-G	c.612G>C	p.L204=	Synonymous	2/2	-	1
16-11348724-C-T	c.612G>A	p.L204=	Synonymous	2/2	-	1
16-11348726-G-A	c.610C>T	p.L204=	Synonymous	2/2	-	1
16-11348725-A-C	c.611T>G	p.L204R	Missense	2/2	-	1
16-11348725-A-G	c.611T>C	p.L204P	Missense	2/2	-	1
16-11348725-A-T	c.611T>A	p.L204Q	Missense	2/2	-	1
16-11348726-G-C	c.610C>G	p.L204V	Missense	2/2	-	6
16-11348728-T-C	c.608A>G	p.Y203C	Missense	2/2	-	2
16-11348728-T-G	c.608A>C	p.Y203S	Missense	2/2	-	5
16-11348729-A-C	c.607T>G	p.Y203D	Missense	2/2	-	1
16-11348729-A-G	c.607T>C	p.Y203H	Missense	2/2	-	1
16-11348731-T-C	c.605A>G	p.D202G	Missense	2/2	-	1
16-11348732-C-T	c.604G>A	p.D202N	Missense	2/2	-	1
16-11348733-G-A	c.603C>T	p.R201=	Synonymous	2/2	-	2
16-11348734-C-A	c.602G>T	p.R201L	Missense	2/2	-	1
16-11348734-CG-GC	c.601_602delinsGC	p.R201A	Missense	2/2	-	1
16-11348734-C-T	c.602G>A	p.R201H	Missense	2/2	-	2
16-11348735-G-A	c.601C>T	p.R201C	Missense	2/2	-	2
16-11348735-G-T	c.601C>A	p.R201S	Missense	2/2	-	1
16-11348736-G-A	c.600C>T	p.L200=	Synonymous	2/2	-	1
16-11348737-A-G	c.599T>C	p.L200P	Missense	2/2	-	1
16-11348738-G-A	c.598C>T	p.L200F	Missense	2/2	-	2
16-11348738-G-C	c.598C>G	p.L200V	Missense	2/2	-	3
16-11348738-G-T	c.598C>A	p.L200I	Missense	2/2	-	1
16-11348740-A-G	c.596T>C	p.V199A	Missense	2/2	-	3
16-11348741-C-T	c.595G>A	p.V199I	Missense	2/2	-	2
16-11348743-G-A	c.593C>T	p.P198L	Missense	2/2	-	1
16-11348743-G-C	c.593C>G	p.P198R	Missense	2/2	-	1
16-11348743-GG-AA	c.592_593delinsTT	p.P198F	Missense	2/2	-	1
16-11348743-G-T	c.593C>A	p.P198H	Missense	2/2	-	2
16-11348741-CGG-C	c.593_594del	p.P198Rfs*54	Frameshift	2/2	-	1
16-11348741-CGGGGTTGAGGG-C	c.584_594del	p.P195Rfs*54	Frameshift	2/2	-	1
16-11348744-G-A	c.592C>T	p.P198S	Missense	2/2	-	3
16-11348744-G-C	c.592C>G	p.P198A	Missense	2/2	-	2
16-11348741-CG-C	c.594del	p.V199Sfs*6	Frameshift	2/2	-	2
16-11348745-G-A	c.591C>T	p.N197=	Synonymous	2/2	-	4
16-11348745-G-C	c.591C>G	p.N197K	Missense	2/2	-	2
16-11348745-G-T	c.591C>A	p.N197K	Missense	2/2	-	3
16-11348746-T-A	c.590A>T	p.N197I	Missense	2/2	-	1
16-11348746-T-G	c.590A>C	p.N197T	Missense	2/2	-	1
16-11348747-T-C	c.589A>G	p.N197D	Missense	2/2	-	1
16-11348749-A-C	c.587T>G	p.L196R	Missense	2/2	-	1
16-11348752-G-A	c.584C>T	p.P195L	Missense	2/2	-	3
16-11348751-GGGGAT-G	c.580_584del	p.I194Pfs*57	Frameshift	2/2	-	1
16-11348753-G-A	c.583C>T	p.P195S	Missense	2/2	-	1
16-11348749-AG-A	c.586del	p.L196Sfs*9	Frameshift	2/2	-	1
16-11348752-GGGATGCGAGCCAGGTTCTC-G	c.565_583del	p.E189Pfs*10	Frameshift	2/2	-	3
16-11348755-A-G	c.581T>C	p.I194T	Missense	2/2	-	2
16-11348757-G-A	c.579C>T	p.R193=	Synonymous	2/2	-	1
16-11348758-C-A	c.578G>T	p.R193L	Missense	2/2	-	1
16-11348758-CG-GC	c.577_578delinsGC	p.R193A	Missense	2/2	-	1
16-11348758-C-T	c.578G>A	p.R193H	Missense	2/2	-	1
16-11348759-G-A	c.577C>T	p.R193C	Missense	2/2	-	2
16-11348759-G-C	c.577C>G	p.R193G	Missense	2/2	-	1
16-11348761-G-A	c.575C>T	p.A192V	Missense	2/2	-	3
16-11348761-G-C	c.575C>G	p.A192G	Missense	2/2	-	1
16-11348762-C-G	c.574G>C	p.A192P	Missense	2/2	-	1
16-11348762-C-T	c.574G>A	p.A192T	Missense	2/2	-	1
16-11348763-C-A	c.573G>T	p.L191=	Synonymous	2/2	-	1
16-11348763-C-G	c.573G>C	p.L191=	Synonymous	2/2	-	1
16-11348763-C-T	c.573G>A	p.L191=	Synonymous	2/2	-	1
16-11348765-AGGTTCT-A	c.566_571del	p.E189_L191delinsV	MultiAAMissense	2/2	-	1
16-11348765-G-A	c.571C>T	p.L191=	Synonymous	2/2	-	2
16-11348765-G-C	c.571C>G	p.L191V	Missense	2/2	-	1
16-11348765-G-T	c.571C>A	p.L191M	Missense	2/2	-	1
16-11348766-G-A	c.570C>T	p.N190=	Synonymous	2/2	-	1
16-11348766-G-C	c.570C>G	p.N190K	Missense	2/2	-	1
16-11348766-G-T	c.570C>A	p.N190K	Missense	2/2	-	1
16-11348767-T-A	c.569A>T	p.N190I	Missense	2/2	-	1
16-11348767-T-C	c.569A>G	p.N190S	Missense	2/2	-	1
16-11348769-C-A	c.567G>T	p.E189D	Missense	2/2	-	4
16-11348769-C-G	c.567G>C	p.E189D	Missense	2/2	-	5
16-11348769-C-T	c.567G>A	p.E189=	Synonymous	2/2	-	1
16-11348772-GCG-TCA	c.562_564delinsTGA	p.R188*	Nonsense	2/2	-	1
16-11348772-GC-TT	c.563_564delinsAA	p.R188Q	Missense	2/2	-	1
16-11348773-C-T	c.563G>A	p.R188H	Missense	2/2	-	1
16-11348773-CGGCCCACGGTGGCCACGAT-C	c.544_562del	p.I182Afs*17	Frameshift	2/2	-	1
16-11348776-C-G	c.560G>C	p.G187A	Missense	2/2	-	1
16-11348779-A-G	c.557T>C	p.V186A	Missense	2/2	-	1
16-11348782-G-A	c.554C>T	p.T185I	Missense	2/2	-	1
16-11348783-T-C	c.553A>G	p.T185A	Missense	2/2	-	3
16-11348783-TGGCCACGATGCGCTGGCGGCACAGCTCCTGCAGCG-T	c.518_552del	p.P173Hfs*68	Frameshift	2/2	-	1
16-11348785-G-A	c.551C>T	p.A184V	Missense	2/2	-	1
16-11348786-C-A	c.550G>T	p.A184S	Missense	2/2	-	1
16-11348786-C-G	c.550G>C	p.A184P	Missense	2/2	-	2
16-11348786-C-T	c.550G>A	p.A184T	Missense	2/2	-	3
16-11348790-G-C	c.546C>G	p.I182M	Missense	2/2	-	1
16-11348791-A-C	c.545T>G	p.I182S	Missense	2/2	-	1
16-11348791-A-T	c.545T>A	p.I182N	Missense	2/2	-	1
16-11348792-T-A	c.544A>T	p.I182F	Missense	2/2	-	2
16-11348792-T-G	c.544A>C	p.I182L	Missense	2/2	-	1
16-11348794-C-T	c.542G>A	p.R181H	Missense	2/2	-	1
16-11348795-G-A	c.541C>T	p.R181C	Missense	2/2	-	3
16-11348796-C-A	c.540G>T	p.Q180H	Missense	2/2	-	2
16-11348796-C-G	c.540G>C	p.Q180H	Missense	2/2	-	2
16-11348796-C-T	c.540G>A	p.Q180=	Synonymous	2/2	-	1
16-11348795-GCTGGCGGCA-G	c.532_540del	p.C178_Q180del	InFrameDeletion	2/2	-	1
16-11348797-T-G	c.539A>C	p.Q180P	Missense	2/2	-	2
16-11348798-G-T	c.538C>A	p.Q180K	Missense	2/2	-	1
16-11348799-GCG-ATGATA	c.535_537delinsTATCAT	p.R179delinsYH	MultiAAMissense	2/2	-	1
16-11348799-GCG-CTT	c.535_537delinsAAG	p.R179K	Missense	2/2	-	1
16-11348800-C-A	c.536G>T	p.R179L	Missense	2/2	-	1
16-11348800-C-G	c.536G>C	p.R179P	Missense	2/2	-	1
16-11348800-C-T	c.536G>A	p.R179H	Missense	2/2	-	1
16-11348797-TGGC-T	c.536_538del	p.R179del	InFrameDeletion	2/2	-	1
16-11348798-GGCGGCACA-G	c.530_537del	p.L177Pfs*73	Frameshift	2/2	-	1
16-11348792-TGCGCTGGCGGCACAGCTCCTGCAGCGGCCGCACGCG-T	c.508_543del	p.R170_R181del	InFrameDeletion	2/2	-	1
16-11348802-G-A	c.534C>T	p.C178=	Synonymous	2/2	-	1
16-11348802-G-C	c.534C>G	p.C178W	Missense	2/2	-	7
16-11348802-GGCA-G	c.532_534del	p.C178del	InFrameDeletion	2/2	-	1
16-11348802-G-T	c.534C>A	p.C178*	Nonsense	2/2	-	2
16-11348803-C-T	c.533G>A	p.C178Y	Missense	2/2	-	2
16-11348802-GCACAGCT-G	c.527_533del	p.E176Afs*27	Frameshift	2/2	-	1
16-11348803-C-G	c.533G>C	p.C178S	Missense	2/2	-	1
16-11348804-A-G	c.532T>C	p.C178R	Missense	2/2	-	3
16-11348804-A-T	c.532T>A	p.C178S	Missense	2/2	-	1
16-11348805-C-A	c.531G>T	p.L177=	Synonymous	2/2	-	1
16-11348805-C-G	c.531G>C	p.L177=	Synonymous	2/2	-	1
16-11348805-C-T	c.531G>A	p.L177=	Synonymous	2/2	-	1
16-11348804-ACAGCTCCTGCAGCGGC-A	c.516_531del	p.P173Afs*27	Frameshift	2/2	-	1
16-11348806-A-C	c.530T>G	p.L177R	Missense	2/2	-	1
16-11348806-A-G	c.530T>C	p.L177P	Missense	2/2	-	1
16-11348806-A-T	c.530T>A	p.L177Q	Missense	2/2	-	1
16-11348807-G-A	c.529C>T	p.L177=	Synonymous	2/2	-	2
16-11348807-G-C	c.529C>G	p.L177V	Missense	2/2	-	6
16-11348807-G-T	c.529C>A	p.L177M	Missense	2/2	-	1
16-11348808-C-A	c.528G>T	p.E176D	Missense	2/2	-	5
16-11348808-C-G	c.528G>C	p.E176D	Missense	2/2	-	6
16-11348808-C-T	c.528G>A	p.E176=	Synonymous	2/2	-	5
16-11348810-C-A	c.526G>T	p.E176*	Nonsense	2/2	-	1
16-11348810-C-G	c.526G>C	p.E176Q	Missense	2/2	-	2
16-11348810-C-T	c.526G>A	p.E176K	Missense	2/2	-	1
16-11348811-C-A	c.525G>T	p.Q175H	Missense	2/2	-	3
16-11348811-C-G	c.525G>C	p.Q175H	Missense	2/2	-	2
16-11348811-C-T	c.525G>A	p.Q175=	Synonymous	2/2	-	2
16-11348809-TCCTGCAGCGGCCGCACGCGGCGCTGGCGCAGCGGGGC-T	c.490_526del	p.A164Sfs*29	Frameshift	2/2	-	1
16-11348812-T-A	c.524A>T	p.Q175L	Missense	2/2	-	1
16-11348812-T-G	c.524A>C	p.Q175P	Missense	2/2	-	1
16-11348813-G-A	c.523C>T	p.Q175*	Nonsense	2/2	-	6
16-11348813-G-C	c.523C>G	p.Q175E	Missense	2/2	-	2
16-11348813-GC-AT	c.522_523delinsAT	p.Q175*	Missense	2/2	-	1
16-11348813-G-T	c.523C>A	p.Q175K	Missense	2/2	-	1
16-11348814-C-A	c.522G>T	p.L174=	Synonymous	2/2	-	3
16-11348814-CAG-GTC	c.520_522delinsGAC	p.L174D	Missense	2/2	-	1
16-11348814-C-G	c.522G>C	p.L174=	Synonymous	2/2	-	3
16-11348814-C-T	c.522G>A	p.L174=	Synonymous	2/2	-	3
16-11348816-G-A	c.520C>T	p.L174=	Synonymous	2/2	-	3
16-11348815-A-G	c.521T>C	p.L174P	Missense	2/2	-	1
16-11348815-AG-GC	c.520_521delinsGC	p.L174A	Missense	2/2	-	1
16-11348816-G-C	c.520C>G	p.L174V	Missense	2/2	-	2
16-11348816-G-T	c.520C>A	p.L174M	Missense	2/2	-	1
16-11348817-C-CG	c.518dup	p.L174Afs*79	Frameshift	2/2	-	1
16-11348820-CC-AT	c.515_516delinsAT	p.R172H	Missense	2/2	-	6
16-11348820-C-T	c.516G>A	p.R172=	Synonymous	2/2	-	1
16-11348821-CG-AT	c.514_515delinsAT	p.R172M	Missense	2/2	-	1
16-11348821-CG-TT	c.514_515delinsAA	p.R172K	Missense	2/2	-	1
16-11348822-G-A	c.514C>T	p.R172W	Missense	2/2	-	1
16-11348824-A-G	c.512T>C	p.V171A	Missense	2/2	-	2
16-11348824-A-T	c.512T>A	p.V171E	Missense	2/2	-	1
16-11348824-CACGCGGCGCTGGCGCAGCG-C	c.494_512del	p.P165Rfs*34	Frameshift	2/2	-	1
16-11348825-C-A	c.511G>T	p.V171L	Missense	2/2	-	1
16-11348825-C-G	c.511G>C	p.V171L	Missense	2/2	-	1
16-11348825-C-T	c.511G>A	p.V171M	Missense	2/2	-	3
16-11348824-ACGCGGCG-A	c.505_511del	p.R169Cfs*34	Frameshift	2/2	-	1
16-11348827-C-A	c.509G>T	p.R170L	Missense	2/2	-	1
16-11348827-C-T	c.509G>A	p.R170H	Missense	2/2	-	1
16-11348828-G-A	c.508C>T	p.R170C	Missense	2/2	-	3
16-11348829-GCG-TCA	c.505_507delinsTGA	p.R169*	Nonsense	2/2	-	1
16-11348830-GCGC-G	c.504_506del	p.Q168_R169delinsH	MultiAAMissense	2/2	-	1
16-11348831-G-A	c.505C>T	p.R169C	Missense	2/2	-	3
16-11348831-G-T	c.505C>A	p.R169S	Missense	2/2	-	3
16-11348832-C-A	c.504G>T	p.Q168H	Missense	2/2	-	2
16-11348832-C-G	c.504G>C	p.Q168H	Missense	2/2	-	3
16-11348825-CGCGGCGCTGGCGCAGCGGGGCCCCCAGCAT-C	c.481_510del	p.M161_R170del	InFrameDeletion	2/2	-	2
16-11348833-TGGCGCAGCGG-T	c.493_502del	p.P165Sfs*37	Frameshift	2/2	-	1
16-11348837-CG-C	c.499del	p.R167Afs*38	Frameshift	2/2	-	1
16-11348839-A-C	c.497T>G	p.L166R	Missense	2/2	-	1
16-11348839-A-G	c.497T>C	p.L166P	Missense	2/2	-	1
16-11348839-A-T	c.497T>A	p.L166Q	Missense	2/2	-	2
16-11348840-G-A	c.496C>T	p.L166=	Synonymous	2/2	-	1
16-11348842-G-A	c.494C>T	p.P165L	Missense	2/2	-	1
16-11348843-G-A	c.493C>T	p.P165S	Missense	2/2	-	1
16-11348843-G-C	c.493C>G	p.P165A	Missense	2/2	-	2
16-11348843-GGGGCCCCCAGCA-G	c.482_493del	p.M161_P165delinsT	MultiAAMissense	2/2	-	1
16-11348841-C-CG	c.494dup	p.L166Afs*87	Frameshift	2/2	-	1
16-11348846-C-A	c.490G>T	p.A164S	Missense	2/2	-	1
16-11348846-C-T	c.490G>A	p.A164T	Missense	2/2	-	1
16-11348844-GGCCCCCAGCATGCGGCGCGGC-G	c.471_491del	p.R159_P165del	InFrameDeletion	2/2	-	1
16-11348845-GCC-G	c.489_490del	p.A164Pfs*88	Frameshift	2/2	-	1
16-11348849-C-G	c.487G>C	p.G163R	Missense	2/2	-	1
16-11348849-C-T	c.487G>A	p.G163R	Missense	2/2	-	2
16-11348845-GC-G	c.490del	p.A164Pfs*41	Frameshift	2/2	-	4
16-11348850-CAG-AAA	c.484_486delinsTTT	p.L162F	Missense	2/2	-	1
16-11348851-A-C	c.485T>G	p.L162R	Missense	2/2	-	4
16-11348852-AGCATGCGG-A	c.477_484del	p.R160Gfs*90	Frameshift	2/2	-	1
16-11348852-G-A	c.484C>T	p.L162=	Synonymous	2/2	-	3
16-11348852-G-C	c.484C>G	p.L162V	Missense	2/2	-	4
16-11348852-G-T	c.484C>A	p.L162M	Missense	2/2	-	4
16-11348853-C-A	c.483G>T	p.M161I	Missense	2/2	-	4
16-11348853-C-G	c.483G>C	p.M161I	Missense	2/2	-	4
16-11348853-C-T	c.483G>A	p.M161I	Missense	2/2	-	6
16-11348853-GCAT-G	c.481_483del	p.M161del	InFrameDeletion	2/2	-	1
16-11348851-AGCATGCGGCGCG-A	c.473_484del	p.P158_M161del	InFrameDeletion	2/2	-	1
16-11348851-AGCATGCGGCGCGGCGCCGCCACGTAGT-A	c.458_484del	p.H153_M161del	InFrameDeletion	2/2	-	1
16-11348855-T-G	c.481A>C	p.M161L	Missense	2/2	-	1
16-11348855-T-TGCCGC	c.480_481insGCGGC	p.M161Afs*46	Frameshift	2/2	-	1
16-11348857-C-A	c.479G>T	p.R160L	Missense	2/2	-	2
16-11348857-C-T	c.479G>A	p.R160H	Missense	2/2	-	11
16-11348858-G-A	c.478C>T	p.R160C	Missense	2/2	-	3
16-11348855-TGCG-T	c.478_480del	p.R160del	InFrameDeletion	2/2	-	1
16-11348856-GCGGCGCGGCGC-G	c.469_479del	p.A157Hfs*92	Frameshift	2/2	-	1
16-11348859-G-A	c.477C>T	p.R159=	Synonymous	2/2	-	1
16-11348859-GC-ACAAA	c.476_477delinsTTTGT	p.R159delinsLC	MultiAAMissense	2/2	-	1
16-11348859-GCG-ACAAAGTAC	c.475_477delinsGTACTTTGT	p.R159delinsVLC	MultiAAMissense	2/2	-	1
16-11348860-C-A	c.476G>T	p.R159L	Missense	2/2	-	1
16-11348860-C-T	c.476G>A	p.R159H	Missense	2/2	-	1
16-11348860-C-CGAG	c.475_476insCTC	p.P158dup	InFrameInsertion	2/2	-	1
16-11348861-G-A	c.475C>T	p.R159C	Missense	2/2	-	2
16-11348861-G-C	c.475C>G	p.R159G	Missense	2/2	-	1
16-11348862-C-A	c.474G>T	p.P158=	Synonymous	2/2	-	1
16-11348862-C-G	c.474G>C	p.P158=	Synonymous	2/2	-	1
16-11348862-C-T	c.474G>A	p.P158=	Synonymous	2/2	-	1
16-11348855-TGCGGC-T	c.476_480del	p.R159Hfs*92	Frameshift	2/2	-	1
16-11348863-G-A	c.473C>T	p.P158L	Missense	2/2	-	1
16-11348863-G-C	c.473C>G	p.P158R	Missense	2/2	-	1
16-11348864-G-A	c.472C>T	p.P158S	Missense	2/2	-	1
16-11348864-G-C	c.472C>G	p.P158A	Missense	2/2	-	1
16-11348864-G-T	c.472C>A	p.P158T	Missense	2/2	-	3
16-11348865-CGC-AGGTGT	c.469_471delinsACACCT	p.A157delinsTP	MultiAAMissense	2/2	-	1
16-11348865-CGC-ATG	c.469_471delinsCAT	p.A157H	Missense	2/2	-	1
16-11348866-G-A	c.470C>T	p.A157V	Missense	2/2	-	1
16-11348867-C-A	c.469G>T	p.A157S	Missense	2/2	-	1
16-11348867-C-G	c.469G>C	p.A157P	Missense	2/2	-	2
16-11348867-C-T	c.469G>A	p.A157T	Missense	2/2	-	2
16-11348865-CGCCGCCACGTAGTGCTCCAGCA-C	c.449_470del	p.L150Rfs*48	Frameshift	2/2	-	1
16-11348869-G-A	c.467C>T	p.A156V	Missense	2/2	-	2
16-11348870-C-A	c.466G>T	p.A156S	Missense	2/2	-	1
16-11348870-C-T	c.466G>A	p.A156T	Missense	2/2	-	3
16-11348872-A-G	c.464T>C	p.V155A	Missense	2/2	-	1
16-11348872-A-T	c.464T>A	p.V155E	Missense	2/2	-	1
16-11348874-G-C	c.462C>G	p.Y154*	Nonsense	2/2	-	1
16-11348874-G-T	c.462C>A	p.Y154*	Nonsense	2/2	-	2
16-11348875-T-A	c.461A>T	p.Y154F	Missense	2/2	-	2
16-11348875-T-C	c.461A>G	p.Y154C	Missense	2/2	-	2
16-11348875-T-G	c.461A>C	p.Y154S	Missense	2/2	-	1
16-11348876-A-C	c.460T>G	p.Y154D	Missense	2/2	-	1
16-11348876-A-G	c.460T>C	p.Y154H	Missense	2/2	-	5
16-11348876-A-T	c.460T>A	p.Y154N	Missense	2/2	-	1
16-11348878-T-A	c.458A>T	p.H153L	Missense	2/2	-	1
16-11348878-T-C	c.458A>G	p.H153R	Missense	2/2	-	3
16-11348879-G-A	c.457C>T	p.H153Y	Missense	2/2	-	3
16-11348879-G-C	c.457C>G	p.H153D	Missense	2/2	-	1
16-11348879-G-T	c.457C>A	p.H153N	Missense	2/2	-	2
16-11348879-TG-T	c.457del	p.H153Tfs*52	Frameshift	2/2	-	1
16-11348880-C-A	c.456G>T	p.E152D	Missense	2/2	-	3
16-11348880-C-G	c.456G>C	p.E152D	Missense	2/2	-	5
16-11348880-C-T	c.456G>A	p.E152=	Synonymous	2/2	-	1
16-11348882-C-A	c.454G>T	p.E152*	Nonsense	2/2	-	2
16-11348882-C-G	c.454G>C	p.E152Q	Missense	2/2	-	1
16-11348882-C-T	c.454G>A	p.E152K	Missense	2/2	-	4
16-11348883-CAG-GAT	c.451_453delinsATC	p.L151I	Missense	2/2	-	1
16-11348884-A-G	c.452T>C	p.L151P	Missense	2/2	-	1
16-11348884-AG-GC	c.451_452delinsGC	p.L151A	Missense	2/2	-	1
16-11348884-A-T	c.452T>A	p.L151Q	Missense	2/2	-	1
16-11348885-G-A	c.451C>T	p.L151=	Synonymous	2/2	-	2
16-11348885-G-C	c.451C>G	p.L151V	Missense	2/2	-	1
16-11348873-C-CGTAGTGCTCCAGCCGAA	c.462_463insTTCGGCTGGAGCACTAC	p.V155Ffs*56	Frameshift	2/2	-	1
16-11348886-C-G	c.450G>C	p.L150=	Synonymous	2/2	-	1
16-11348886-C-T	c.450G>A	p.L150=	Synonymous	2/2	-	1
16-11348887-AG-GC	c.448_449delinsGC	p.L150A	Missense	2/2	-	1
16-11348887-AG-TA	c.448_449delinsTA	p.L150*	Missense	2/2	-	1
16-11348887-A-T	c.449T>A	p.L150Q	Missense	2/2	-	1
16-11348888-AGCTCGAAGAGGCAGT-A	c.434_448del	p.D145_L150delinsV	MultiAAMissense	2/2	-	1
16-11348888-G-A	c.448C>T	p.L150=	Synonymous	2/2	-	1
16-11348888-G-C	c.448C>G	p.L150V	Missense	2/2	-	10
16-11348888-G-T	c.448C>A	p.L150M	Missense	2/2	-	2
16-11348889-C-A	c.447G>T	p.E149D	Missense	2/2	-	4
16-11348889-C-G	c.447G>C	p.E149D	Missense	2/2	-	5
16-11348889-C-T	c.447G>A	p.E149=	Synonymous	2/2	-	2
16-11348891-C-CCT	c.444_445insAG	p.E149Rfs*57	Frameshift	2/2	-	1
16-11348891-C-CTTCCT	c.444_445insAGGAA	p.E149Rfs*58	Frameshift	2/2	-	1
16-11348891-C-G	c.445G>C	p.E149Q	Missense	2/2	-	1
16-11348891-C-T	c.445G>A	p.E149K	Missense	2/2	-	5
16-11348892-G-C	c.444C>G	p.F148L	Missense	2/2	-	1
16-11348892-G-T	c.444C>A	p.F148L	Missense	2/2	-	2
16-11348894-A-G	c.442T>C	p.F148L	Missense	2/2	-	2
16-11348894-A-AGCTGTCTCTATACACATCTCC	c.441_442insGGAGATGTGTATAGAGACAGC	p.L147_F148insGDVYRDS	InFrameInsertion	2/2	-	1
16-11348896-A-C	c.440T>G	p.L147R	Missense	2/2	-	1
16-11348896-A-G	c.440T>C	p.L147P	Missense	2/2	-	1
16-11348897-G-A	c.439C>T	p.L147F	Missense	2/2	-	1
16-11348897-G-C	c.439C>G	p.L147V	Missense	2/2	-	1
16-11348898-G-T	c.438C>A	p.C146*	Nonsense	2/2	-	3
16-11348899-C-T	c.437G>A	p.C146Y	Missense	2/2	-	2
16-11348899-GCAGTCGAAGC-G	c.428_437del	p.S143Tfs*59	Frameshift	2/2	-	1
16-11348900-A-G	c.436T>C	p.C146R	Missense	2/2	-	1
16-11348901-G-C	c.435C>G	p.D145E	Missense	2/2	-	2
16-11348901-G-T	c.435C>A	p.D145E	Missense	2/2	-	2
16-11348902-GTCGAAGCTCTCGCGGCTGCCATCCAGGTGAAA-G	c.403_434del	p.F135Lfs*107	Frameshift	2/2	-	1
16-11348903-C-T	c.433G>A	p.D145N	Missense	2/2	-	1
16-11348904-G-C	c.432C>G	p.F144L	Missense	2/2	-	3
16-11348904-G-T	c.432C>A	p.F144L	Missense	2/2	-	3
16-11348906-A-C	c.430T>G	p.F144V	Missense	2/2	-	2
16-11348906-A-G	c.430T>C	p.F144L	Missense	2/2	-	3
16-11348907-G-A	c.429C>T	p.S143=	Synonymous	2/2	-	1
16-11348907-G-C	c.429C>G	p.S143R	Missense	2/2	-	3
16-11348907-G-T	c.429C>A	p.S143R	Missense	2/2	-	1
16-11348906-AGCTCTCGCGGCTGCCATCCAGGTGAAAGCGGCC-A	c.397_429del	p.G133_S143del	InFrameDeletion	2/2	-	1
16-11348908-C-A	c.428G>T	p.S143I	Missense	2/2	-	2
16-11348908-C-G	c.428G>C	p.S143T	Missense	2/2	-	11
16-11348908-C-T	c.428G>A	p.S143N	Missense	2/2	-	9
16-11348907-GCTCTCGCGGCTGC-G	c.416_428del	p.G139Afs*62	Frameshift	2/2	-	1
16-11348909-T-TA	c.426_427insT	p.S143*	Nonsense	2/2	-	1
16-11348910-C-CGAAGAGGCAGTCGAAGCTG	c.425_426insCAGCTTCGACTGCCTCTTC	p.E142Dfs*117	Frameshift	2/2	-	1
16-11348910-C-G	c.426G>C	p.E142D	Missense	2/2	-	1
16-11348910-TCTCGCG-T	c.421_426del	p.R141_E142del	InFrameDeletion	2/2	-	1
16-11348911-T-A	c.425A>T	p.E142V	Missense	2/2	-	1
16-11348911-T-C	c.425A>G	p.E142G	Missense	2/2	-	1
16-11348912-C-T	c.424G>A	p.E142K	Missense	2/2	-	8
16-11348913-GCG-CCA	c.421_423delinsTGG	p.R141W	Missense	2/2	-	2
16-11348914-C-A	c.422G>T	p.R141L	Missense	2/2	-	4
16-11348914-C-T	c.422G>A	p.R141H	Missense	2/2	-	2
16-11348915-G-A	c.421C>T	p.R141C	Missense	2/2	-	1
16-11348916-G-C	c.420C>G	p.S140R	Missense	2/2	-	4
16-11348916-G-T	c.420C>A	p.S140R	Missense	2/2	-	3
16-11348918-T-G	c.418A>C	p.S140R	Missense	2/2	-	4
16-11348917-C-G	c.419G>C	p.S140T	Missense	2/2	-	1
16-11348912-CGCGGCTGCCATCCAGGTGAAA-C	c.403_423del	p.F135_R141del	InFrameDeletion	2/2	-	1
16-11348918-T-A	c.418A>T	p.S140C	Missense	2/2	-	1
16-11348918-T-C	c.418A>G	p.S140G	Missense	2/2	-	2
16-11348919-G-T	c.417C>A	p.G139=	Synonymous	2/2	-	1
16-11348920-C-A	c.416G>T	p.G139V	Missense	2/2	-	6
16-11348920-CC-TT	c.415_416delinsAA	p.G139N	Missense	2/2	-	1
16-11348920-C-G	c.416G>C	p.G139A	Missense	2/2	-	3
16-11348920-C-T	c.416G>A	p.G139D	Missense	2/2	-	7
16-11348920-GCCATCCAGGTGAAAGCGGCCGGCCTGAAAGTGCACGCGGATGCTCGTGGGTCCCGAGGC-G	c.358_416del	p.A120Qfs*113	InFrameDeletion	2/2	-	1
16-11348921-C-T	c.415G>A	p.G139S	Missense	2/2	-	1
16-11348922-A-T	c.414T>A	p.D138E	Missense	2/2	-	1
16-11348923-T-C	c.413A>G	p.D138G	Missense	2/2	-	3
16-11348924-C-A	c.412G>T	p.D138Y	Missense	2/2	-	1
16-11348924-C-G	c.412G>C	p.D138H	Missense	2/2	-	2
16-11348924-C-T	c.412G>A	p.D138N	Missense	2/2	-	3
16-11348925-C-A	c.411G>T	p.L137=	Synonymous	2/2	-	1
16-11348925-C-G	c.411G>C	p.L137=	Synonymous	2/2	-	2
16-11348925-C-T	c.411G>A	p.L137=	Synonymous	2/2	-	1
16-11348927-G-A	c.409C>T	p.L137=	Synonymous	2/2	-	1
16-11348926-A-C	c.410T>G	p.L137R	Missense	2/2	-	1
16-11348926-A-T	c.410T>A	p.L137Q	Missense	2/2	-	1
16-11348927-G-C	c.409C>G	p.L137V	Missense	2/2	-	1
16-11348929-T-A	c.407A>T	p.H136L	Missense	2/2	-	1
16-11348929-T-C	c.407A>G	p.H136R	Missense	2/2	-	1
16-11348930-G-A	c.406C>T	p.H136Y	Missense	2/2	-	2
16-11348930-G-T	c.406C>A	p.H136N	Missense	2/2	-	1
16-11348931-A-T	c.405T>A	p.F135L	Missense	2/2	-	3
16-11348931-GAAA-G	c.403_405del	p.F135del	InFrameDeletion	2/2	-	1
16-11348932-A-C	c.404T>G	p.F135C	Missense	2/2	-	6
16-11348934-G-A	c.402C>T	p.R134=	Synonymous	2/2	-	1
16-11348934-G-C	c.402C>G	p.R134=	Synonymous	2/2	-	1
16-11348934-G-T	c.402C>A	p.R134=	Synonymous	2/2	-	1
16-11348928-GTGAAAGCGGCCGGCC-G	c.393_407del	p.Q131_F135del	InFrameDeletion	2/2	-	1
16-11348935-C-A	c.401G>T	p.R134L	Missense	2/2	-	3
16-11348935-C-G	c.401G>C	p.R134P	Missense	2/2	-	1
16-11348935-CG-GC	c.400_401delinsGC	p.R134A	Missense	2/2	-	3
16-11348935-C-T	c.401G>A	p.R134H	Missense	2/2	-	4
16-11348936-G-C	c.400C>G	p.R134G	Missense	2/2	-	1
16-11348937-G-A	c.399C>T	p.G133=	Synonymous	2/2	-	2
16-11348937-G-C	c.399C>G	p.G133=	Synonymous	2/2	-	1
16-11348937-G-T	c.399C>A	p.G133=	Synonymous	2/2	-	1
16-11348938-C-A	c.398G>T	p.G133V	Missense	2/2	-	1
16-11348938-C-G	c.398G>C	p.G133A	Missense	2/2	-	1
16-11348937-GC-G	c.398del	p.G133Afs*72	Frameshift	2/2	-	1
16-11348940-G-A	c.396C>T	p.A132=	Synonymous	2/2	-	2
16-11348940-G-C	c.396C>G	p.A132=	Synonymous	2/2	-	1
16-11348940-G-T	c.396C>A	p.A132=	Synonymous	2/2	-	1
16-11348942-C-G	c.394G>C	p.A132P	Missense	2/2	-	1
16-11348942-C-T	c.394G>A	p.A132T	Missense	2/2	-	2
16-11348943-C-A	c.393G>T	p.Q131H	Missense	2/2	-	1
16-11348943-C-G	c.393G>C	p.Q131H	Missense	2/2	-	2
16-11348944-T-G	c.392A>C	p.Q131P	Missense	2/2	-	1
16-11348945-G-A	c.391C>T	p.Q131*	Nonsense	2/2	-	6
16-11348945-G-C	c.391C>G	p.Q131E	Missense	2/2	-	5
16-11348945-G-T	c.391C>A	p.Q131K	Missense	2/2	-	3
16-11348946-A-G	c.390T>C	p.F130=	Synonymous	2/2	-	1
16-11348946-A-C	c.390T>G	p.F130L	Missense	2/2	-	3
16-11348946-A-T	c.390T>A	p.F130L	Missense	2/2	-	3
16-11348948-AAGTG-A	c.385_388del	p.H129Ffs*75	Frameshift	2/2	-	1
16-11348948-A-G	c.388T>C	p.F130L	Missense	2/2	-	4
16-11348949-AGTGCACGCGG-A	c.378_387del	p.R127Ffs*75	Frameshift	2/2	-	3
16-11348949-G-A	c.387C>T	p.H129=	Synonymous	2/2	-	2
16-11348949-G-C	c.387C>G	p.H129Q	Missense	2/2	-	2
16-11348949-G-T	c.387C>A	p.H129Q	Missense	2/2	-	1
16-11348950-TG-AA	c.385_386delinsTT	p.H129F	Missense	2/2	-	1
16-11348951-G-A	c.385C>T	p.H129Y	Missense	2/2	-	7
16-11348951-G-T	c.385C>A	p.H129N	Missense	2/2	-	3
16-11348951-TGC-T	c.384_385del	p.H129Lfs*123	Frameshift	2/2	-	1
16-11348948-AGTGCACGCGGATGCTC-A	c.372_387del	p.S125Ffs*75	Frameshift	2/2	-	1
16-11348952-C-A	c.384G>T	p.V128=	Synonymous	2/2	-	1
16-11348952-C-G	c.384G>C	p.V128=	Synonymous	2/2	-	1
16-11348952-C-T	c.384G>A	p.V128=	Synonymous	2/2	-	2
16-11348953-A-C	c.383T>G	p.V128G	Missense	2/2	-	1
16-11348954-C-A	c.382G>T	p.V128L	Missense	2/2	-	1
16-11348954-C-G	c.382G>C	p.V128L	Missense	2/2	-	1
16-11348954-C-T	c.382G>A	p.V128M	Missense	2/2	-	1
16-11348955-G-A	c.381C>T	p.R127=	Synonymous	2/2	-	1
16-11348955-G-C	c.381C>G	p.R127=	Synonymous	2/2	-	1
16-11348955-G-T	c.381C>A	p.R127=	Synonymous	2/2	-	1
16-11348956-C-G	c.380G>C	p.R127P	Missense	2/2	-	1
16-11348956-C-T	c.380G>A	p.R127H	Missense	2/2	-	6
16-11348957-G-A	c.379C>T	p.R127C	Missense	2/2	-	3
16-11348957-G-C	c.379C>G	p.R127G	Missense	2/2	-	1
16-11348957-G-T	c.379C>A	p.R127S	Missense	2/2	-	2
16-11348958-G-A	c.378C>T	p.I126=	Synonymous	2/2	-	1
16-11348958-G-T	c.378C>A	p.I126=	Synonymous	2/2	-	1
16-11348959-A-G	c.377T>C	p.I126T	Missense	2/2	-	1
16-11348960-T-C	c.376A>G	p.I126V	Missense	2/2	-	2
16-11348961-G-A	c.375C>T	p.S125=	Synonymous	2/2	-	2
16-11348961-G-C	c.375C>G	p.S125R	Missense	2/2	-	3
16-11348961-G-T	c.375C>A	p.S125R	Missense	2/2	-	3
16-11348961-TG-T	c.375del	p.S125Rfs*80	Frameshift	2/2	-	1
16-11348963-T-G	c.373A>C	p.S125R	Missense	2/2	-	3
16-11348962-C-A	c.374G>T	p.S125I	Missense	2/2	-	2
16-11348962-C-G	c.374G>C	p.S125T	Missense	2/2	-	13
16-11348962-C-T	c.374G>A	p.S125N	Missense	2/2	-	9
16-11348962-CT-GC	c.373_374delinsGC	p.S125A	Missense	2/2	-	1
16-11348963-T-C	c.373A>G	p.S125G	Missense	2/2	-	1
16-11348964-CGT-ATG	c.370_372delinsCAT	p.T124H	Missense	2/2	-	1
16-11348964-C-T	c.372G>A	p.T124=	Synonymous	2/2	-	2
16-11348965-G-T	c.371C>A	p.T124K	Missense	2/2	-	1
16-11348966-T-C	c.370A>G	p.T124A	Missense	2/2	-	2
16-11348968-G-A	c.368C>T	p.P123L	Missense	2/2	-	1
16-11348968-G-C	c.368C>G	p.P123R	Missense	2/2	-	3
16-11348968-G-T	c.368C>A	p.P123H	Missense	2/2	-	1
16-11348969-G-A	c.367C>T	p.P123S	Missense	2/2	-	2
16-11348969-G-C	c.367C>G	p.P123A	Missense	2/2	-	1
16-11348971-C-T	c.365G>A	p.G122E	Missense	2/2	-	2
16-11348972-C-A	c.364G>T	p.G122*	Nonsense	2/2	-	8
16-11348972-C-G	c.364G>C	p.G122R	Missense	2/2	-	9
16-11348972-C-T	c.364G>A	p.G122R	Missense	2/2	-	12
16-11348970-TC-T	c.365del	p.G122Dfs*83	Frameshift	2/2	-	2
16-11348973-CCGA-C	c.361_363del	p.S121del	InFrameDeletion	2/2	-	1
16-11348971-CCCGAGG-C	c.359_364del	p.A120_S121del	InFrameDeletion	2/2	-	1
16-11348974-G-A	c.362C>T	p.S121L	Missense	2/2	-	1
16-11348974-GA-TC	c.361_362inv	p.S121E	Missense	2/2	-	1
16-11348975-A-G	c.361T>C	p.S121P	Missense	2/2	-	1
16-11348976-GGC-TGTGAT	c.358_360delinsATCACA	p.A120delinsIT	MultiAAMissense	2/2	-	1
16-11348977-G-A	c.359C>T	p.A120V	Missense	2/2	-	3
16-11348977-G-C	c.359C>G	p.A120G	Missense	2/2	-	1
16-11348977-GGCCATCT-G	c.353_359del	p.K118Tfs*85	Frameshift	2/2	-	1
16-11348978-C-A	c.358G>T	p.A120S	Missense	2/2	-	3
16-11348978-C-G	c.358G>C	p.A120P	Missense	2/2	-	3
16-11348978-C-T	c.358G>A	p.A120T	Missense	2/2	-	5
16-11348976-GGCCATCTTCAC-G	c.349_359del	p.V117Lfs*132	Frameshift	2/2	-	1
16-11348977-GC-G	c.358del	p.A120Pfs*85	Frameshift	2/2	-	1
16-11348979-C-A	c.357G>T	p.M119I	Missense	2/2	-	1
16-11348979-C-G	c.357G>C	p.M119I	Missense	2/2	-	1
16-11348979-C-T	c.357G>A	p.M119I	Missense	2/2	-	1
16-11348980-A-G	c.356T>C	p.M119T	Missense	2/2	-	2
16-11348981-T-C	c.355A>G	p.M119V	Missense	2/2	-	2
16-11348982-C-G	c.354G>C	p.K118N	Missense	2/2	-	1
16-11348981-TCTTCACGCTAAGGGCGAAAAAGCAGTTCCGCTGGCGGCTGTCGCGCACCAGGAAGGTGC-T	c.296_354del	p.G99Dfs*134	InFrameDeletion	2/2	-	1
16-11348983-T-A	c.353A>T	p.K118M	Missense	2/2	-	1
16-11348983-T-C	c.353A>G	p.K118R	Missense	2/2	-	1
16-11348983-TT-GC	c.352_353delinsGC	p.K118A	Missense	2/2	-	1
16-11348985-C-A	c.351G>T	p.V117=	Synonymous	2/2	-	1
16-11348985-CAC-GAT	c.349_351delinsATC	p.V117I	Missense	2/2	-	1
16-11348985-C-G	c.351G>C	p.V117=	Synonymous	2/2	-	1
16-11348985-C-T	c.351G>A	p.V117=	Synonymous	2/2	-	1
16-11348986-A-G	c.350T>C	p.V117A	Missense	2/2	-	1
16-11348986-A-T	c.350T>A	p.V117E	Missense	2/2	-	1
16-11348987-C-T	c.349G>A	p.V117M	Missense	2/2	-	2
16-11348988-CG-C	c.348del	p.S116Rfs*2	Frameshift	2/2	-	1
16-11348988-G-A	c.348C>T	p.S116=	Synonymous	2/2	-	3
16-11348988-G-C	c.348C>G	p.S116R	Missense	2/2	-	19
16-11348988-G-T	c.348C>A	p.S116R	Missense	2/2	-	16
16-11348990-T-G	c.346A>C	p.S116R	Missense	2/2	-	10
16-11348989-C-G	c.347G>C	p.S116T	Missense	2/2	-	4
16-11348989-C-T	c.347G>A	p.S116N	Missense	2/2	-	22
16-11348989-GC-G	c.347del	p.S116Tfs*2	Frameshift	2/2	-	1
16-11348990-T-A	c.346A>T	p.S116C	Missense	2/2	-	1
16-11348990-T-C	c.346A>G	p.S116G	Missense	2/2	-	2
16-11348991-A-C	c.345T>G	p.L115=	Synonymous	2/2	-	1
16-11348991-A-G	c.345T>C	p.L115=	Synonymous	2/2	-	1
16-11348991-A-T	c.345T>A	p.L115=	Synonymous	2/2	-	1
16-11348992-A-G	c.344T>C	p.L115P	Missense	2/2	-	1
16-11348992-A-T	c.344T>A	p.L115H	Missense	2/2	-	1
16-11348994-G-A	c.342C>T	p.A114=	Synonymous	2/2	-	2
16-11348994-G-C	c.342C>G	p.A114=	Synonymous	2/2	-	1
16-11348994-G-T	c.342C>A	p.A114=	Synonymous	2/2	-	1
16-11348995-G-A	c.341C>T	p.A114V	Missense	2/2	-	3
16-11348996-C-A	c.340G>T	p.A114S	Missense	2/2	-	2
16-11348996-C-T	c.340G>A	p.A114T	Missense	2/2	-	2
16-11348996-GC-G	c.340del	p.A114Pfs*4	Frameshift	2/2	-	2
16-11348997-CGAAAAAGCAGT-C	c.329_339del	p.N110Sfs*3	Frameshift	2/2	-	1
16-11348997-G-A	c.339C>T	p.F113=	Synonymous	2/2	-	2
16-11348997-G-C	c.339C>G	p.F113L	Missense	2/2	-	2
16-11348998-A-C	c.338T>G	p.F113C	Missense	2/2	-	1
16-11348998-A-G	c.338T>C	p.F113S	Missense	2/2	-	1
16-11348997-G-T	c.339C>A	p.F113L	Missense	2/2	-	1
16-11348999-A-G	c.337T>C	p.F113L	Missense	2/2	-	1
16-11348999-A-T	c.337T>A	p.F113I	Missense	2/2	-	1
16-11349001-AA-GC	c.334_335delinsGC	p.F112A	Missense	2/2	-	1
16-11349001-A-C	c.335T>G	p.F112C	Missense	2/2	-	1
16-11349001-A-G	c.335T>C	p.F112S	Missense	2/2	-	1
16-11348997-GA-G	c.338del	p.F113Sfs*5	Frameshift	2/2	-	3
16-11349003-G-A	c.333C>T	p.C111=	Synonymous	2/2	-	2
16-11349001-AAGC-A	c.332_334del	p.C111del	InFrameDeletion	2/2	-	1
16-11349002-AGCAGTTCCGCTGGCGGCT-A	c.316_333del	p.S106_C111del	InFrameDeletion	2/2	-	1
16-11349004-C-A	c.332G>T	p.C111F	Missense	2/2	-	4
16-11349004-C-T	c.332G>A	p.C111Y	Missense	2/2	-	9
16-11349004-C-G	c.332G>C	p.C111S	Missense	2/2	-	4
16-11349005-A-G	c.331T>C	p.C111R	Missense	2/2	-	2
16-11349005-A-T	c.331T>A	p.C111S	Missense	2/2	-	5
16-11349006-AG-A	c.330del	p.C111Afs*7	Frameshift	2/2	-	1
16-11349006-G-A	c.330C>T	p.N110=	Synonymous	2/2	-	3
16-11349006-G-C	c.330C>G	p.N110K	Missense	2/2	-	10
16-11349006-G-T	c.330C>A	p.N110K	Missense	2/2	-	4
16-11349007-T-A	c.329A>T	p.N110I	Missense	2/2	-	1
16-11349007-T-C	c.329A>G	p.N110S	Missense	2/2	-	3
16-11349008-T-C	c.328A>G	p.N110D	Missense	2/2	-	1
16-11349008-T-TA	c.327_328insT	p.N110*	Nonsense	2/2	-	1
16-11349009-C-A	c.327G>T	p.R109=	Synonymous	2/2	-	2
16-11349009-CCG-ACA	c.325_327delinsTGT	p.R109C	Missense	2/2	-	1
16-11349009-C-T	c.327G>A	p.R109=	Synonymous	2/2	-	1
16-11349010-C-T	c.326G>A	p.R109Q	Missense	2/2	-	2
16-11349011-G-A	c.325C>T	p.R109W	Missense	2/2	-	4
16-11349009-CCGCTGGCGGCTGTCGCGCACCAGGAAGGTGCCCACGGGCTCGGCGCGCAGCCGCTCGTG-C	c.268_326del	p.H90Efs*7	InFrameDeletion	2/2	-	1
16-11349012-C-A	c.324G>T	p.Q108H	Missense	2/2	-	1
16-11349012-C-G	c.324G>C	p.Q108H	Missense	2/2	-	1
16-11349015-GCG-ATGGTT	c.319_321delinsAACCAT	p.R107delinsNH	MultiAAMissense	2/2	-	1
16-11349016-C-A	c.320G>T	p.R107L	Missense	2/2	-	1
16-11349016-CG-GC	c.319_320delinsGC	p.R107A	Missense	2/2	-	1
16-11349016-CG-GT	c.319_320delinsAC	p.R107T	Missense	2/2	-	1
16-11349016-C-T	c.320G>A	p.R107H	Missense	2/2	-	2
16-11349015-GCGGCTGTCGCGCACCAGGAAGGTGC-G	c.296_320del	p.G99Afs*11	Frameshift	2/2	-	1
16-11349017-G-A	c.319C>T	p.R107C	Missense	2/2	-	1
16-11349017-G-T	c.319C>A	p.R107S	Missense	2/2	-	1
16-11349016-CGGCTGTCGCGCACCAGGAAGGT-C	c.298_319del	p.T100Afs*11	Frameshift	2/2	-	1
16-11349018-G-A	c.318C>T	p.S106=	Synonymous	2/2	-	2
16-11349018-G-C	c.318C>G	p.S106R	Missense	2/2	-	10
16-11349018-G-T	c.318C>A	p.S106R	Missense	2/2	-	8
16-11349019-C-TTGT	c.317delinsACAA	p.S106delinsNN	MultiAAMissense	2/2	-	1
16-11349020-T-G	c.316A>C	p.S106R	Missense	2/2	-	4
16-11349019-C-A	c.317G>T	p.S106I	Missense	2/2	-	1
16-11349019-C-G	c.317G>C	p.S106T	Missense	2/2	-	2
16-11349019-C-T	c.317G>A	p.S106N	Missense	2/2	-	4
16-11349020-T-A	c.316A>T	p.S106C	Missense	2/2	-	2
16-11349021-G-A	c.315C>T	p.D105=	Synonymous	2/2	-	1
16-11349021-G-C	c.315C>G	p.D105E	Missense	2/2	-	1
16-11349021-G-T	c.315C>A	p.D105E	Missense	2/2	-	1
16-11349022-T-C	c.314A>G	p.D105G	Missense	2/2	-	5
16-11349022-T-G	c.314A>C	p.D105A	Missense	2/2	-	3
16-11349023-C-G	c.313G>C	p.D105H	Missense	2/2	-	1
16-11349023-C-T	c.313G>A	p.D105N	Missense	2/2	-	4
16-11349024-G-A	c.312C>T	p.R104=	Synonymous	2/2	-	1
16-11349024-G-C	c.312C>G	p.R104=	Synonymous	2/2	-	1
16-11349024-GCG-TCA	c.310_312delinsTGA	p.R104*	Nonsense	2/2	-	3
16-11349024-G-T	c.312C>A	p.R104=	Synonymous	2/2	-	1
16-11349025-C-A	c.311G>T	p.R104L	Missense	2/2	-	1
16-11349026-G-A	c.310C>T	p.R104C	Missense	2/2	-	6
16-11349026-G-C	c.310C>G	p.R104G	Missense	2/2	-	2
16-11349027-C-A	c.309G>T	p.V103=	Synonymous	2/2	-	1
16-11349027-CAC-GAT	c.307_309delinsATC	p.V103I	Missense	2/2	-	1
16-11349027-C-G	c.309G>C	p.V103=	Synonymous	2/2	-	1
16-11349027-C-T	c.309G>A	p.V103=	Synonymous	2/2	-	1
16-11349023-CGCGCACCAGGAAGGTGCCCACGGGCTCG-C	c.285_312del	p.E96Tfs*13	Frameshift	2/2	-	1
16-11349028-A-C	c.308T>G	p.V103G	Missense	2/2	-	1
16-11349028-A-G	c.308T>C	p.V103A	Missense	2/2	-	1
16-11349028-A-T	c.308T>A	p.V103E	Missense	2/2	-	1
16-11349029-C-A	c.307G>T	p.V103L	Missense	2/2	-	4
16-11349029-C-G	c.307G>C	p.V103L	Missense	2/2	-	4
16-11349029-C-T	c.307G>A	p.V103M	Missense	2/2	-	2
16-11349030-C-T	c.306G>A	p.L102=	Synonymous	2/2	-	2
16-11349031-A-G	c.305T>C	p.L102P	Missense	2/2	-	3
16-11349031-AG-GC	c.304_305delinsGC	p.L102A	Missense	2/2	-	1
16-11349031-AG-TC	c.304_305delinsGA	p.L102E	Missense	2/2	-	1
16-11349031-A-T	c.305T>A	p.L102Q	Missense	2/2	-	2
16-11349032-G-C	c.304C>G	p.L102V	Missense	2/2	-	3
16-11349033-G-A	c.303C>T	p.F101=	Synonymous	2/2	-	1
16-11349034-A-C	c.302T>G	p.F101C	Missense	2/2	-	1
16-11349034-A-G	c.302T>C	p.F101S	Missense	2/2	-	3
16-11349034-A-T	c.302T>A	p.F101Y	Missense	2/2	-	1
16-11349034-GAAGGTGCCCA-G	c.293_302del	p.V98Afs*17	Frameshift	2/2	-	1
16-11349033-G-C	c.303C>G	p.F101L	Missense	2/2	-	4
16-11349033-G-T	c.303C>A	p.F101L	Missense	2/2	-	4
16-11349035-A-G	c.301T>C	p.F101L	Missense	2/2	-	6
16-11349036-G-C	c.300C>G	p.T100=	Synonymous	2/2	-	1
16-11349037-G-A	c.299C>T	p.T100I	Missense	2/2	-	8
16-11349037-G-C	c.299C>G	p.T100S	Missense	2/2	-	1
16-11349037-G-T	c.299C>A	p.T100N	Missense	2/2	-	3
16-11349038-T-A	c.298A>T	p.T100S	Missense	2/2	-	2
16-11349038-T-G	c.298A>C	p.T100P	Missense	2/2	-	2
16-11349039-G-A	c.297C>T	p.G99=	Synonymous	2/2	-	1
16-11349039-G-C	c.297C>G	p.G99=	Synonymous	2/2	-	2
16-11349039-G-T	c.297C>A	p.G99=	Synonymous	2/2	-	2
16-11349039-TGCCCACGGG-T	c.289_297del	p.P97_G99del	InFrameDeletion	2/2	-	1
16-11349039-TGCC-T	c.295_297del	p.G99del	InFrameDeletion	2/2	-	1
16-11349039-TG-T	c.297del	p.T100Pfs*18	Frameshift	2/2	-	1
16-11349040-C-A	c.296G>T	p.G99V	Missense	2/2	-	1
16-11349040-C-G	c.296G>C	p.G99A	Missense	2/2	-	2
16-11349040-C-T	c.296G>A	p.G99D	Missense	2/2	-	6
16-11349039-GCC-G	c.295_296del	p.G99Hfs*17	Frameshift	2/2	-	1
16-11349041-C-T	c.295G>A	p.G99S	Missense	2/2	-	1
16-11349038-TGCCCACGGGCTCGGCGCGCA-T	c.278_297del	p.L93Hfs*17	Frameshift	2/2	-	1
16-11349043-A-G	c.293T>C	p.V98A	Missense	2/2	-	2
16-11349044-C-A	c.292G>T	p.V98L	Missense	2/2	-	1
16-11349046-G-A	c.290C>T	p.P97L	Missense	2/2	-	1
16-11349044-C-CG	c.291dup	p.V98Rfs*19	Frameshift	2/2	-	1
16-11349047-G-A	c.289C>T	p.P97S	Missense	2/2	-	4
16-11349047-G-C	c.289C>G	p.P97A	Missense	2/2	-	1
16-11349049-T-C	c.287A>G	p.E96G	Missense	2/2	-	1
16-11349049-T-G	c.287A>C	p.E96A	Missense	2/2	-	1
16-11349050-C-G	c.286G>C	p.E96Q	Missense	2/2	-	1
16-11349051-G-A	c.285C>T	p.A95=	Synonymous	2/2	-	1
16-11349051-G-C	c.285C>G	p.A95=	Synonymous	2/2	-	1
16-11349051-G-T	c.285C>A	p.A95=	Synonymous	2/2	-	1
16-11349049-TCGGCG-T	c.282_286del	p.E96Rfs*19	Frameshift	2/2	-	1
16-11349050-CG-C	c.285del	p.E96Sfs*22	Frameshift	2/2	-	1
16-11349051-GGCGCGCAGCCGCTCGTGCGCCCCGTGCACGCTCAGGGGCCCCCA-G	c.241_284del	p.W81Rfs*21	Frameshift	2/2	-	1
16-11349051-GGC-G	c.283_284del	p.A95Rfs*21	Frameshift	2/2	-	1
16-11349056-G-A	c.280C>T	p.R94C	Missense	2/2	-	1
16-11349056-G-C	c.280C>G	p.R94G	Missense	2/2	-	1
16-11349055-CGCA-C	c.278_280del	p.L93del	InFrameDeletion	2/2	-	2
16-11349055-CGCAGCCGCTCGTGCGCCCCGTGCACGCTCAGGG-C	c.248_280del	p.P83_L93del	InFrameDeletion	2/2	-	1
16-11349058-A-C	c.278T>G	p.L93R	Missense	2/2	-	1
16-11349058-A-T	c.278T>A	p.L93Q	Missense	2/2	-	1
16-11349058-CA-C	c.278del	p.L93Rfs*25	Frameshift	2/2	-	1
16-11349061-C-G	c.275G>C	p.R92P	Missense	2/2	-	1
16-11349060-C-A	c.276G>T	p.R92=	Synonymous	2/2	-	1
16-11349060-C-G	c.276G>C	p.R92=	Synonymous	2/2	-	1
16-11349060-C-T	c.276G>A	p.R92=	Synonymous	2/2	-	1
16-11349062-G-A	c.274C>T	p.R92W	Missense	2/2	-	3
16-11349062-G-C	c.274C>G	p.R92G	Missense	2/2	-	2
16-11349062-G-T	c.274C>A	p.R92=	Synonymous	2/2	-	2
16-11349064-T-A	c.272A>T	p.E91V	Missense	2/2	-	1
16-11349064-T-C	c.272A>G	p.E91G	Missense	2/2	-	1
16-11349065-C-T	c.271G>A	p.E91K	Missense	2/2	-	3
16-11349060-CCGCTCGTGCGCCCCGTGCA-C	c.257_275del	p.V86Gfs*26	Frameshift	2/2	-	1
16-11349066-CGTG-C	c.268_270del	p.H90del	InFrameDeletion	2/2	-	1
16-11349067-TG-GC	c.268_269delinsGC	p.H90A	Missense	2/2	-	2
16-11349068-G-A	c.268C>T	p.H90Y	Missense	2/2	-	2
16-11349068-G-T	c.268C>A	p.H90N	Missense	2/2	-	1
16-11349068-TGCGCCCCGTGC-T	c.258_268del	p.H87Rfs*26	Frameshift	2/2	-	1
16-11349069-C-A	c.267G>T	p.A89=	Synonymous	2/2	-	1
16-11349069-C-G	c.267G>C	p.A89=	Synonymous	2/2	-	1
16-11349069-CGC-TGTCTT	c.265_267delinsAAGACA	p.A89delinsKT	MultiAAMissense	2/2	-	1
16-11349069-CG-TGTCT	c.266_267delinsAGACA	p.A89delinsET	MultiAAMissense	2/2	-	1
16-11349069-C-T	c.267G>A	p.A89=	Synonymous	2/2	-	3
16-11349064-TCGTGCGCCC-T	c.263_271del	p.G88_H90del	InFrameDeletion	2/2	-	1
16-11349070-G-A	c.266C>T	p.A89V	Missense	2/2	-	1
16-11349071-C-G	c.265G>C	p.A89P	Missense	2/2	-	5
16-11349071-C-T	c.265G>A	p.A89T	Missense	2/2	-	3
16-11349069-CGCCCCGT-C	c.260_266del	p.H87Rfs*29	Frameshift	2/2	-	1
16-11349072-C-A	c.264G>T	p.G88=	Synonymous	2/2	-	1
16-11349072-C-G	c.264G>C	p.G88=	Synonymous	2/2	-	1
16-11349072-C-T	c.264G>A	p.G88=	Synonymous	2/2	-	1
16-11349073-C-A	c.263G>T	p.G88V	Missense	2/2	-	2
16-11349073-C-T	c.263G>A	p.G88E	Missense	2/2	-	1
16-11349074-C-A	c.262G>T	p.G88W	Missense	2/2	-	1
16-11349074-C-G	c.262G>C	p.G88R	Missense	2/2	-	1
16-11349074-C-T	c.262G>A	p.G88R	Missense	2/2	-	1
16-11349075-CG-C	c.261del	p.H87Qfs*31	Frameshift	2/2	-	1
16-11349076-T-C	c.260A>G	p.H87R	Missense	2/2	-	1
16-11349077-G-A	c.259C>T	p.H87Y	Missense	2/2	-	3
16-11349076-TGCACGCTCAG-T	c.250_259del	p.L84Tfs*31	Frameshift	2/2	-	1
16-11349078-C-A	c.258G>T	p.V86=	Synonymous	2/2	-	1
16-11349078-C-G	c.258G>C	p.V86=	Synonymous	2/2	-	2
16-11349078-C-T	c.258G>A	p.V86=	Synonymous	2/2	-	1
16-11349078-GCAC-G	c.256_258del	p.V86del	InFrameDeletion	2/2	-	1
16-11349079-A-G	c.257T>C	p.V86A	Missense	2/2	-	1
16-11349080-C-A	c.256G>T	p.V86L	Missense	2/2	-	3
16-11349080-C-G	c.256G>C	p.V86L	Missense	2/2	-	2
16-11349080-C-T	c.256G>A	p.V86M	Missense	2/2	-	2
16-11349079-ACGCTCAGGGGCCCCCAGTAGAATCCGCAGGCGT-A	c.224_256del	p.D75_S85del	InFrameDeletion	2/2	-	1
16-11349082-C-A	c.254G>T	p.S85I	Missense	2/2	-	1
16-11349082-C-G	c.254G>C	p.S85T	Missense	2/2	-	1
16-11349082-CT-GC	c.253_254delinsGC	p.S85A	Missense	2/2	-	1
16-11349082-CT-TC	c.253_254delinsGA	p.S85D	Missense	2/2	-	1
16-11349081-GCTCAGGGGCCCCCAGTAGAATCCGCAGGCGTC-G	c.223_254del	p.D75Rfs*31	Frameshift	2/2	-	1
16-11349083-T-C	c.253A>G	p.S85G	Missense	2/2	-	1
16-11349084-C-A	c.252G>T	p.L84=	Synonymous	2/2	-	2
16-11349084-C-G	c.252G>C	p.L84=	Synonymous	2/2	-	2
16-11349084-C-T	c.252G>A	p.L84=	Synonymous	2/2	-	2
16-11349086-G-A	c.250C>T	p.L84=	Synonymous	2/2	-	2
16-11349085-A-C	c.251T>G	p.L84R	Missense	2/2	-	3
16-11349085-AG-TA	c.250_251delinsTA	p.L84*	Nonsense	2/2	-	2
16-11349085-A-T	c.251T>A	p.L84Q	Missense	2/2	-	2
16-11349084-CAGGGGCCCCCAGT-C	c.239_251del	p.Y80*	Frameshift	2/2	-	1
16-11349087-G-A	c.249C>T	p.P83=	Synonymous	2/2	-	3
16-11349087-G-C	c.249C>G	p.P83=	Synonymous	2/2	-	3
16-11349087-G-T	c.249C>A	p.P83=	Synonymous	2/2	-	3
16-11349088-G-A	c.248C>T	p.P83L	Missense	2/2	-	1
16-11349088-GG-AA	c.247_248delinsTT	p.P83F	Missense	2/2	-	1
16-11349085-AG-A	c.250del	p.L84*	Frameshift	2/2	-	1
16-11349089-G-A	c.247C>T	p.P83S	Missense	2/2	-	2
16-11349091-C-T	c.245G>A	p.G82E	Missense	2/2	-	4
16-11349092-C-A	c.244G>T	p.G82W	Missense	2/2	-	1
16-11349093-C-A	c.243G>T	p.W81C	Missense	2/2	-	1
16-11349093-CCCAGTAGAATCCGCAGGCGTCCAGGAGCGCGCTGGCGCGCGTGATGCGCCGGTAA-C	c.189_243del	p.D63Efs*4	Frameshift	2/2	-	1
16-11349093-C-G	c.243G>C	p.W81C	Missense	2/2	-	1
16-11349089-G-GC	c.246dup	p.P83Afs*34	Frameshift	2/2	-	1
16-11349093-C-T	c.243G>A	p.W81*	Nonsense	2/2	-	8
16-11349094-C-G	c.242G>C	p.W81S	Missense	2/2	-	1
16-11349094-C-T	c.242G>A	p.W81*	Nonsense	2/2	-	5
16-11349095-A-C	c.241T>G	p.W81G	Missense	2/2	-	3
16-11349095-A-G	c.241T>C	p.W81R	Missense	2/2	-	4
16-11349095-A-T	c.241T>A	p.W81R	Missense	2/2	-	3
16-11349096-G-A	c.240C>T	p.Y80=	Synonymous	2/2	-	3
16-11349096-G-C	c.240C>G	p.Y80*	Nonsense	2/2	-	5
16-11349096-G-GGGGCCCCCAA	c.239_240insTTGGGGGCCC	p.S85Gfs*35	Frameshift	2/2	-	3
16-11349096-G-T	c.240C>A	p.Y80*	Nonsense	2/2	-	4
16-11349097-T-A	c.239A>T	p.Y80F	Missense	2/2	-	1
16-11349097-T-C	c.239A>G	p.Y80C	Missense	2/2	-	3
16-11349097-T-G	c.239A>C	p.Y80S	Missense	2/2	-	2
16-11349098-A-C	c.238T>G	p.Y80D	Missense	2/2	-	1
16-11349098-A-G	c.238T>C	p.Y80H	Missense	2/2	-	1
16-11349099-G-A	c.237C>T	p.F79=	Synonymous	2/2	-	1
16-11349099-G-C	c.237C>G	p.F79L	Missense	2/2	-	11
16-11349100-AA-GC	c.235_236delinsGC	p.F79A	Missense	2/2	-	1
16-11349100-A-C	c.236T>G	p.F79C	Missense	2/2	-	2
16-11349100-A-G	c.236T>C	p.F79S	Missense	2/2	-	1
16-11349099-G-T	c.237C>A	p.F79L	Missense	2/2	-	9
16-11349101-A-C	c.235T>G	p.F79V	Missense	2/2	-	1
16-11349101-A-G	c.235T>C	p.F79L	Missense	2/2	-	9
16-11349101-A-T	c.235T>A	p.F79I	Missense	2/2	-	2
16-11349102-T-G	c.234A>C	p.G78=	Synonymous	2/2	-	1
16-11349103-C-A	c.233G>T	p.G78V	Missense	2/2	-	2
16-11349103-C-G	c.233G>C	p.G78A	Missense	2/2	-	1
16-11349103-C-T	c.233G>A	p.G78E	Missense	2/2	-	6
16-11349104-C-G	c.232G>C	p.G78R	Missense	2/2	-	2
16-11349104-C-T	c.232G>A	p.G78R	Missense	2/2	-	4
16-11349105-G-A	c.231C>T	p.C77=	Synonymous	2/2	-	1
16-11349105-G-C	c.231C>G	p.C77W	Missense	2/2	-	2
16-11349105-G-T	c.231C>A	p.C77*	Nonsense	2/2	-	1
16-11349106-CA-GC	c.229_230delinsGC	p.C77A	Missense	2/2	-	1
16-11349106-C-T	c.230G>A	p.C77Y	Missense	2/2	-	1
16-11349107-A-C	c.229T>G	p.C77G	Missense	2/2	-	1
16-11349108-AGGCGTCCAGGAGCGCGCTGGCGCG-A	c.205_228del	p.R69_A76del	InFrameDeletion	2/2	-	1
16-11349108-GGC-TGTGTT	c.226_228delinsAACACA	p.A76delinsNT	MultiAAMissense	2/2	-	1
16-11349109-G-A	c.227C>T	p.A76V	Missense	2/2	-	4
16-11349109-G-C	c.227C>G	p.A76G	Missense	2/2	-	7
16-11349108-GGCGTCCA-G	c.221_227del	p.L74Pfs*9	Frameshift	2/2	-	1
16-11349110-C-G	c.226G>C	p.A76P	Missense	2/2	-	1
16-11349110-C-T	c.226G>A	p.A76T	Missense	2/2	-	3
16-11349111-G-A	c.225C>T	p.D75=	Synonymous	2/2	-	1
16-11349111-G-C	c.225C>G	p.D75E	Missense	2/2	-	1
16-11349111-G-T	c.225C>A	p.D75E	Missense	2/2	-	1
16-11349110-CGTCCAGGAGCGCGCTGGCGCGCGTGAT-C	c.199_225del	p.I67_D75del	InFrameDeletion	2/2	-	1
16-11349112-T-G	c.224A>C	p.D75A	Missense	2/2	-	1
16-11349113-C-G	c.223G>C	p.D75H	Missense	2/2	-	1
16-11349113-C-T	c.223G>A	p.D75N	Missense	2/2	-	1
16-11349113-TCCAGGAGCGC-T	c.214_223del	p.A72Tfs*10	Frameshift	2/2	-	1
16-11349114-C-G	c.222G>C	p.L74=	Synonymous	2/2	-	1
16-11349115-A-G	c.221T>C	p.L74P	Missense	2/2	-	2
16-11349115-A-T	c.221T>A	p.L74Q	Missense	2/2	-	1
16-11349116-AGGAGCG-A	c.215_220del	p.A72_L74delinsV	MultiAAMissense	2/2	-	1
16-11349116-G-C	c.220C>G	p.L74V	Missense	2/2	-	3
16-11349116-G-T	c.220C>A	p.L74M	Missense	2/2	-	2
16-11349117-G-C	c.219C>G	p.L73=	Synonymous	2/2	-	1
16-11349116-GGAGCGCGCTGGCGC-G	c.206_219del	p.R69Pfs*43	Frameshift	2/2	-	1
16-11349116-GGAGCGCGCTGGCGCGC-G	c.204_219del	p.R69Wfs*11	Frameshift	2/2	-	1
16-11349118-A-C	c.218T>G	p.L73R	Missense	2/2	-	1
16-11349118-A-G	c.218T>C	p.L73P	Missense	2/2	-	1
16-11349118-A-T	c.218T>A	p.L73H	Missense	2/2	-	1
16-11349119-AGCGCGCTGGCGCGCGTGATGCGC-A	c.195_217del	p.R66Pfs*43	Frameshift	2/2	-	1
16-11349119-G-A	c.217C>T	p.L73F	Missense	2/2	-	2
16-11349119-G-C	c.217C>G	p.L73V	Missense	2/2	-	1
16-11349121-CGCGCTGGCGCGCG-C	c.203_215del	p.T68Sfs*13	Frameshift	2/2	-	1
16-11349121-G-A	c.215C>T	p.A72V	Missense	2/2	-	1
16-11349118-AGCGCGCTGGCGC-A	c.206_217del	p.R69_A72del	InFrameDeletion	2/2	-	1
16-11349123-CG-C	c.213del	p.S71Rfs*14	Frameshift	2/2	-	1
16-11349124-GC-G	c.212del	p.S71Tfs*14	Frameshift	2/2	-	1
16-11349118-AGCGCGCTG-A	c.210_217del	p.S71Pfs*43	Frameshift	2/2	-	4
16-11349122-CGCTG-C	c.210_213del	p.S71Rfs*13	Frameshift	2/2	-	1
16-11349126-G-A	c.210C>T	p.A70=	Synonymous	2/2	-	1
16-11349126-G-C	c.210C>G	p.A70=	Synonymous	2/2	-	1
16-11349126-GGC-TTG	c.208_210delinsCAA	p.A70Q	Missense	2/2	-	1
16-11349126-G-T	c.210C>A	p.A70=	Synonymous	2/2	-	1
16-11349127-G-A	c.209C>T	p.A70V	Missense	2/2	-	1
16-11349127-GGCGCGCGTGATGCGCCGGTAATCGGCGTGCGAACGGAATGTGCGGAAGTGCGTGTCGCC-G	c.151_209del	p.G51Qfs*46	Frameshift	2/2	-	1
16-11349128-C-A	c.208G>T	p.A70S	Missense	2/2	-	1
16-11349128-C-T	c.208G>A	p.A70T	Missense	2/2	-	1
16-11349129-G-A	c.207C>T	p.R69=	Synonymous	2/2	-	1
16-11349129-G-C	c.207C>G	p.R69=	Synonymous	2/2	-	1
16-11349129-G-T	c.207C>A	p.R69=	Synonymous	2/2	-	1
16-11349128-CGCGCGT-C	c.202_207del	p.T68_R69del	InFrameDeletion	2/2	-	1
16-11349130-C-G	c.206G>C	p.R69P	Missense	2/2	-	1
16-11349130-CG-GC	c.205_206delinsGC	p.R69A	Missense	2/2	-	1
16-11349130-C-T	c.206G>A	p.R69H	Missense	2/2	-	1
16-11349130-GC-G	c.206del	p.R69Pfs*16	Frameshift	2/2	-	1
16-11349131-G-A	c.205C>T	p.R69C	Missense	2/2	-	2
16-11349133-G-A	c.203C>T	p.T68M	Missense	2/2	-	1
16-11349133-G-C	c.203C>G	p.T68R	Missense	2/2	-	1
16-11349131-GCGTGATGCGCCGGTAATCGGCGTGCGAA-G	c.177_204del	p.S60Afs*16	Frameshift	2/2	-	1
16-11349131-GCGTGATGCGC-G	c.195_204del	p.R66Afs*16	Frameshift	2/2	-	1
16-11349132-CGT-C	c.202_203del	p.T68Afs*48	Frameshift	2/2	-	1
16-11349134-T-C	c.202A>G	p.T68A	Missense	2/2	-	1
16-11349134-T-G	c.202A>C	p.T68P	Missense	2/2	-	3
16-11349135-G-A	c.201C>T	p.I67=	Synonymous	2/2	-	1
16-11349135-G-C	c.201C>G	p.I67M	Missense	2/2	-	2
16-11349135-G-T	c.201C>A	p.I67=	Synonymous	2/2	-	1
16-11349136-GATGCGC-G	c.195_200del	p.R66_I67del	InFrameDeletion	2/2	-	1
16-11349137-T-A	c.199A>T	p.I67F	Missense	2/2	-	4
16-11349138-GCG-CAT	c.196_198delinsATG	p.R66M	Missense	2/2	-	1
16-11349138-GC-TT	c.197_198delinsAA	p.R66Q	Missense	2/2	-	1
16-11349137-TGCGCC-T	c.194_198del	p.R65Hfs*50	Frameshift	2/2	-	1
16-11349139-C-A	c.197G>T	p.R66L	Missense	2/2	-	1
16-11349139-C-G	c.197G>C	p.R66P	Missense	2/2	-	8
16-11349139-CG-GC	c.196_197delinsGC	p.R66A	Missense	2/2	-	1
16-11349139-C-T	c.197G>A	p.R66H	Missense	2/2	-	9
16-11349140-CGCCGGT-C	c.191_196del	p.Y64_R66delinsC	MultiAAMissense	2/2	-	1
16-11349141-C-G	c.195G>C	p.R65=	Synonymous	2/2	-	3
16-11349141-C-T	c.195G>A	p.R65=	Synonymous	2/2	-	7
16-11349139-CGCCGGTAATCGGCGTGCGAACGGAATGT-C	c.169_196del	p.T57Afs*19	Frameshift	2/2	-	1
16-11349140-GCCGGTAATCGGCGTGCGAA-G	c.177_195del	p.S60Afs*19	Frameshift	2/2	-	1
16-11349142-CCGGTA-C	c.190_194del	p.Y64Afs*51	Frameshift	2/2	-	1
16-11349141-C-A	c.195G>T	p.R65=	Synonymous	2/2	-	1
16-11349143-G-A	c.193C>T	p.R65W	Missense	2/2	-	1
16-11349143-G-C	c.193C>G	p.R65G	Missense	2/2	-	1
16-11349143-G-T	c.193C>A	p.R65=	Synonymous	2/2	-	1
16-11349141-C-CCGGCGCGCGTGATGCGT	c.194_195insACGCATCACGCGCGCCG	p.S71Gfs*20	Frameshift	2/2	-	1
16-11349144-G-C	c.192C>G	p.Y64*	Nonsense	2/2	-	7
16-11349144-G-T	c.192C>A	p.Y64*	Nonsense	2/2	-	6
16-11349145-T-G	c.191A>C	p.Y64S	Missense	2/2	-	1
16-11349146-A-C	c.190T>G	p.Y64D	Missense	2/2	-	4
16-11349146-A-T	c.190T>A	p.Y64N	Missense	2/2	-	8
16-11349147-A-C	c.189T>G	p.D63E	Missense	2/2	-	1
16-11349147-A-T	c.189T>A	p.D63E	Missense	2/2	-	2
16-11349148-T-A	c.188A>T	p.D63V	Missense	2/2	-	1
16-11349148-T-C	c.188A>G	p.D63G	Missense	2/2	-	1
16-11349148-T-G	c.188A>C	p.D63A	Missense	2/2	-	1
16-11349149-C-A	c.187G>T	p.D63Y	Missense	2/2	-	1
16-11349149-C-G	c.187G>C	p.D63H	Missense	2/2	-	2
16-11349149-C-T	c.187G>A	p.D63N	Missense	2/2	-	1
16-11349151-G-A	c.185C>T	p.A62V	Missense	2/2	-	2
16-11349151-G-C	c.185C>G	p.A62G	Missense	2/2	-	1
16-11349152-C-A	c.184G>T	p.A62S	Missense	2/2	-	1
16-11349152-C-G	c.184G>C	p.A62P	Missense	2/2	-	2
16-11349152-C-T	c.184G>A	p.A62T	Missense	2/2	-	1
16-11349153-GT-ATAAA	c.182_183delinsTTTAT	p.H61delinsLY	MultiAAMissense	2/2	-	1
16-11349154-T-A	c.182A>T	p.H61L	Missense	2/2	-	2
16-11349154-T-C	c.182A>G	p.H61R	Missense	2/2	-	2
16-11349154-T-G	c.182A>C	p.H61P	Missense	2/2	-	1
16-11349155-G-A	c.181C>T	p.H61Y	Missense	2/2	-	1
16-11349155-G-T	c.181C>A	p.H61N	Missense	2/2	-	2
16-11349156-CG-AA	c.179_180delinsTT	p.S60F	Missense	2/2	-	1
16-11349156-GCGA-G	c.178_180del	p.S60del	InFrameDeletion	2/2	-	1
16-11349157-G-A	c.179C>T	p.S60L	Missense	2/2	-	1
16-11349157-G-C	c.179C>G	p.S60W	Missense	2/2	-	1
16-11349157-G-T	c.179C>A	p.S60*	Nonsense	2/2	-	1
16-11349158-A-C	c.178T>G	p.S60A	Missense	2/2	-	1
16-11349158-A-G	c.178T>C	p.S60P	Missense	2/2	-	1
16-11349159-ACG-CTC	c.175_177delinsGAG	p.R59E	Missense	2/2	-	1
16-11349159-A-G	c.177T>C	p.R59=	Synonymous	2/2	-	1
16-11349160-C-A	c.176G>T	p.R59L	Missense	2/2	-	2
16-11349160-C-G	c.176G>C	p.R59P	Missense	2/2	-	1
16-11349160-CG-GC	c.175_176delinsGC	p.R59A	Missense	2/2	-	1
16-11349160-C-T	c.176G>A	p.R59H	Missense	2/2	-	1
16-11349161-G-C	c.175C>G	p.R59G	Missense	2/2	-	2
16-11349161-G-T	c.175C>A	p.R59S	Missense	2/2	-	2
16-11349162-G-A	c.174C>T	p.F58=	Synonymous	2/2	-	4
16-11349162-G-C	c.174C>G	p.F58L	Missense	2/2	-	13
16-11349159-ACGGAATGTGCGGAAGTGCGTGTCGCCGGGGGCCGGGGCCGGGACCGCGGGGCACGGCCG-A	c.118_176del	p.R40Ffs*57	Frameshift	2/2	-	1
16-11349163-AA-GC	c.172_173delinsGC	p.F58A	Missense	2/2	-	1
16-11349163-A-C	c.173T>G	p.F58C	Missense	2/2	-	2
16-11349163-A-G	c.173T>C	p.F58S	Missense	2/2	-	1
16-11349162-G-T	c.174C>A	p.F58L	Missense	2/2	-	10
16-11349164-A-C	c.172T>G	p.F58V	Missense	2/2	-	1
16-11349164-A-G	c.172T>C	p.F58L	Missense	2/2	-	11
16-11349164-A-T	c.172T>A	p.F58I	Missense	2/2	-	2
16-11349159-ACGGAATGTG-A	c.168_176del	p.T57_R59del	InFrameDeletion	2/2	-	1
16-11349166-G-T	c.170C>A	p.T57K	Missense	2/2	-	1
16-11349167-T-C	c.169A>G	p.T57A	Missense	2/2	-	1
16-11349168-GCG-CTC	c.166_168delinsGAG	p.R56E	Missense	2/2	-	1
16-11349169-C-G	c.167G>C	p.R56P	Missense	2/2	-	1
16-11349170-G-T	c.166C>A	p.R56S	Missense	2/2	-	1
16-11349168-GCGGAAGTGCGTGT-G	c.155_167del	p.D52Afs*29	Frameshift	2/2	-	1
16-11349169-CG-C	c.166del	p.R56Afs*29	Frameshift	2/2	-	1
16-11349171-G-A	c.165C>T	p.F55=	Synonymous	2/2	-	2
16-11349172-A-C	c.164T>G	p.F55C	Missense	2/2	-	1
16-11349172-A-G	c.164T>C	p.F55S	Missense	2/2	-	2
16-11349171-G-C	c.165C>G	p.F55L	Missense	2/2	-	3
16-11349171-G-T	c.165C>A	p.F55L	Missense	2/2	-	2
16-11349173-A-G	c.163T>C	p.F55L	Missense	2/2	-	2
16-11349174-G-C	c.162C>G	p.H54Q	Missense	2/2	-	1
16-11349174-G-T	c.162C>A	p.H54Q	Missense	2/2	-	1
16-11349175-T-G	c.161A>C	p.H54P	Missense	2/2	-	1
16-11349175-TG-GC	c.160_161delinsGC	p.H54A	Missense	2/2	-	1
16-11349176-G-A	c.160C>T	p.H54Y	Missense	2/2	-	1
16-11349176-G-C	c.160C>G	p.H54D	Missense	2/2	-	1
16-11349176-G-T	c.160C>A	p.H54N	Missense	2/2	-	1
16-11349177-CG-GA	c.158_159delinsTC	p.T53I	Missense	2/2	-	1
16-11349178-G-A	c.158C>T	p.T53M	Missense	2/2	-	4
16-11349178-GT-AC	c.157_158inv	p.T53V	Missense	2/2	-	1
16-11349179-T-A	c.157A>T	p.T53S	Missense	2/2	-	1
16-11349179-T-C	c.157A>G	p.T53A	Missense	2/2	-	2
16-11349180-G-T	c.156C>A	p.D52E	Missense	2/2	-	1
16-11349181-T-G	c.155A>C	p.D52A	Missense	2/2	-	1
16-11349182-C-T	c.154G>A	p.D52N	Missense	2/2	-	1
16-11349184-C-T	c.152G>A	p.G51D	Missense	2/2	-	2
16-11349181-TCGCCGGGGGCCGGGGCCGGGACCGCGGGGCACGGCCGCGGGCG-T	c.112_154del	p.R38Tfs*33	Frameshift	2/2	-	1
16-11349183-GC-G	c.152del	p.G51Afs*34	Frameshift	2/2	-	1
16-11349182-CGCCGGGGGCCGGGGCCGGGACCGCGGGGCACG-C	c.122_153del	p.P41Rfs*65	Frameshift	2/2	-	1
16-11349187-G-A	c.149C>T	p.P50L	Missense	2/2	-	4
16-11349187-GG-CC	c.148_149inv	p.P50G	Missense	2/2	-	1
16-11349188-G-A	c.148C>T	p.P50S	Missense	2/2	-	1
16-11349185-CG-C	c.150del	p.G51Afs*34	Frameshift	2/2	-	1
16-11349190-G-A	c.146C>T	p.A49V	Missense	2/2	-	4
16-11349190-GC-CA	c.145_146delinsTG	p.A49C	Missense	2/2	-	1
16-11349188-GGGCC-G	c.144_147del	p.A49Pfs*35	Frameshift	2/2	-	1
16-11349191-C-A	c.145G>T	p.A49S	Missense	2/2	-	1
16-11349194-G-A	c.142C>T	p.P48S	Missense	2/2	-	1
16-11349194-G-GAGGTAC	c.141_142insGTACCT	p.A47_P48insVP	InFrameInsertion	2/2	-	1
16-11349195-G-A	c.141C>T	p.A47=	Synonymous	2/2	-	1
16-11349195-G-C	c.141C>G	p.A47=	Synonymous	2/2	-	1
16-11349195-GGC-CCA	c.139_141delinsTGG	p.A47W	Missense	2/2	-	1
16-11349195-G-T	c.141C>A	p.A47=	Synonymous	2/2	-	1
16-11349186-GGGGGCC-G	c.144_149del	p.A49_P50del	InFrameDeletion	2/2	-	3
16-11349196-G-A	c.140C>T	p.A47V	Missense	2/2	-	2
16-11349196-G-C	c.140C>G	p.A47G	Missense	2/2	-	1
16-11349194-GGGCCGGGACCGCGGGGCACGGCCGCGGGCGCGCGGGGGCCGC-G	c.100_141del	p.A34_A47del	InFrameDeletion	2/2	-	1
16-11349196-G-GCAGGTA	c.139_140insTACCTG	p.V45_P46dup	InFrameInsertion	2/2	-	2
16-11349197-C-T	c.139G>A	p.A47T	Missense	2/2	-	1
16-11349199-G-A	c.137C>T	p.P46L	Missense	2/2	-	1
16-11349199-G-T	c.137C>A	p.P46Q	Missense	2/2	-	2
16-11349200-G-A	c.136C>T	p.P46S	Missense	2/2	-	4
16-11349200-G-C	c.136C>G	p.P46A	Missense	2/2	-	2
16-11349198-CG-C	c.137del	p.P46Rfs*39	Frameshift	2/2	-	1
16-11349201-GAC-CAT	c.133_135delinsATG	p.V45M	Missense	2/2	-	1
16-11349201-GA-CT	c.134_135delinsAG	p.V45E	Missense	2/2	-	1
16-11349201-GAC-TTA	c.133_135delinsTAA	p.V45*	Nonsense	2/2	-	1
16-11349202-GACCGCGGGGCACGGCC-G	c.119_134del	p.R40Pfs*40	Frameshift	2/2	-	1
16-11349203-C-G	c.133G>C	p.V45L	Missense	2/2	-	1
16-11349203-C-T	c.133G>A	p.V45I	Missense	2/2	-	1
16-11349202-ACCG-A	c.131_133del	p.A44del	InFrameDeletion	2/2	-	1
16-11349204-CGC-ACA	c.130_132delinsTGT	p.A44C	Missense	2/2	-	1
16-11349204-CG-GT	c.131_132delinsAC	p.A44D	Missense	2/2	-	1
16-11349205-G-A	c.131C>T	p.A44V	Missense	2/2	-	1
16-11349208-G-A	c.128C>T	p.P43L	Missense	2/2	-	4
16-11349206-CGGGGCACGGCCGCG-C	c.116_129del	p.P39Rfs*73	Frameshift	2/2	-	1
16-11349209-G-A	c.127C>T	p.P43S	Missense	2/2	-	5
16-11349210-G-A	c.126C>T	p.C42=	Synonymous	2/2	-	1
16-11349210-GCA-CTC	c.124_126delinsGAG	p.C42E	Missense	2/2	-	1
16-11349210-G-T	c.126C>A	p.C42*	Nonsense	2/2	-	2
16-11349203-CCGCGGGGCACGGCCGCGGGCG-C	c.112_132del	p.R38_A44del	InFrameDeletion	2/2	-	3
16-11349211-C-T	c.125G>A	p.C42Y	Missense	2/2	-	1
16-11349211-C-G	c.125G>C	p.C42S	Missense	2/2	-	2
16-11349212-A-T	c.124T>A	p.C42S	Missense	2/2	-	1
16-11349213-ACGGCCGCGGGCGCGCGGGGGCCGCGGGCGAGGAGGAGGAAGAGGAGGAAG-A	c.74_123del	p.P25Lfs*75	Frameshift	2/2	-	1
16-11349214-G-A	c.122C>T	p.P41L	Missense	2/2	-	2
16-11349214-G-C	c.122C>G	p.P41R	Missense	2/2	-	1
16-11349214-G-T	c.122C>A	p.P41Q	Missense	2/2	-	1
16-11349216-C-A	c.120G>T	p.R40=	Synonymous	2/2	-	1
16-11349216-C-G	c.120G>C	p.R40=	Synonymous	2/2	-	1
16-11349216-C-T	c.120G>A	p.R40=	Synonymous	2/2	-	1
16-11349218-G-T	c.118C>A	p.R40=	Synonymous	2/2	-	1
16-11349222-GCG-TCA	c.112_114delinsTGA	p.R38*	Nonsense	2/2	-	1
16-11349223-CG-AC	c.112_113delinsGT	p.R38V	Missense	2/2	-	1
16-11349223-CG-AT	c.112_113delinsAT	p.R38I	Missense	2/2	-	1
16-11349223-CG-TC	c.112_113delinsGA	p.R38D	Missense	2/2	-	1
16-11349224-G-A	c.112C>T	p.R38C	Missense	2/2	-	3
16-11349224-G-T	c.112C>A	p.R38S	Missense	2/2	-	1
16-11349223-CGCGCGGG-C	c.106_112del	p.P36Afs*47	Frameshift	2/2	-	1
16-11349225-C-A	c.111G>T	p.A37=	Synonymous	2/2	-	2
16-11349225-C-G	c.111G>C	p.A37=	Synonymous	2/2	-	2
16-11349225-CG-GT	c.110_111delinsAC	p.A37D	Missense	2/2	-	1
16-11349225-C-T	c.111G>A	p.A37=	Synonymous	2/2	-	2
16-11349226-CG-C	c.110del	p.A37Gfs*48	Frameshift	2/2	-	1
16-11349226-G-A	c.110C>T	p.A37V	Missense	2/2	-	1
16-11349225-CGCGGGGGCCGCGGGCGA-C	c.94_110del	p.S32Afs*79	Frameshift	2/2	-	1
16-11349227-C-A	c.109G>T	p.A37S	Missense	2/2	-	1
16-11349227-C-G	c.109G>C	p.A37P	Missense	2/2	-	1
16-11349227-GC-G	c.109del	p.A37Rfs*48	Frameshift	2/2	-	2
16-11349229-G-A	c.107C>T	p.P36L	Missense	2/2	-	1
16-11349229-G-C	c.107C>G	p.P36R	Missense	2/2	-	1
16-11349229-GG-AC	c.106_107delinsGT	p.P36V	Missense	2/2	-	1
16-11349230-G-A	c.106C>T	p.P36S	Missense	2/2	-	1
16-11349227-CG-C	c.108del	p.A37Rfs*48	Frameshift	2/2	-	1
16-11349232-G-A	c.104C>T	p.A35V	Missense	2/2	-	1
16-11349232-G-C	c.104C>G	p.A35G	Missense	2/2	-	1
16-11349233-C-T	c.103G>A	p.A35T	Missense	2/2	-	2
16-11349234-C-A	c.102G>T	p.A34=	Synonymous	2/2	-	2
16-11349234-C-G	c.102G>C	p.A34=	Synonymous	2/2	-	2
16-11349234-C-T	c.102G>A	p.A34=	Synonymous	2/2	-	2
16-11349234-CGCGGGCGAGGAGGAGGAAGAGGAGGAAGGTTCTGGCCGCCGTCG-C	c.58_101del	p.R20Gfs*82	Frameshift	2/2	-	1
16-11349236-C-A	c.100G>T	p.A34S	Missense	2/2	-	2
16-11349236-C-G	c.100G>C	p.A34P	Missense	2/2	-	1
16-11349237-G-A	c.99C>T	p.P33=	Synonymous	2/2	-	1
16-11349238-G-A	c.98C>T	p.P33L	Missense	2/2	-	1
16-11349236-CG-C	c.99del	p.A34Rfs*51	Frameshift	2/2	-	1
16-11349240-CG-AA	c.95_96delinsTT	p.S32F	Missense	2/2	-	1
16-11349241-CGAGGAGGAGGAAGAGGAGGAAGG-C	c.73_95del	p.P25Afs*84	Frameshift	2/2	-	1
16-11349241-G-T	c.95C>A	p.S32*	Nonsense	2/2	-	1
16-11349242-A-C	c.94T>G	p.S32A	Missense	2/2	-	3
16-11349242-A-G	c.94T>C	p.S32P	Missense	2/2	-	1
16-11349243-G-A	c.93C>T	p.S31=	Synonymous	2/2	-	1
16-11349243-G-C	c.93C>G	p.S31=	Synonymous	2/2	-	1
16-11349243-G-T	c.93C>A	p.S31=	Synonymous	2/2	-	1
16-11349244-GA-TT	c.91_92delinsAA	p.S31N	Missense	2/2	-	1
16-11349244-G-C	c.92C>G	p.S31C	Missense	2/2	-	2
16-11349246-G-A	c.90C>T	p.S30=	Synonymous	2/2	-	1
16-11349246-G-C	c.90C>G	p.S30=	Synonymous	2/2	-	1
16-11349246-G-T	c.90C>A	p.S30=	Synonymous	2/2	-	1
16-11349247-GA-CG	c.88_89delinsCG	p.S30R	Missense	2/2	-	1
16-11349248-AG-A	c.87del	p.S30Pfs*55	Frameshift	2/2	-	2
16-11349250-G-A	c.86C>T	p.S29F	Missense	2/2	-	5
16-11349251-A-C	c.85T>G	p.S29A	Missense	2/2	-	2
16-11349251-A-G	c.85T>C	p.S29P	Missense	2/2	-	2
16-11349253-G-A	c.83C>T	p.S28F	Missense	2/2	-	1
16-11349253-G-C	c.83C>G	p.S28C	Missense	2/2	-	2
16-11349254-A-C	c.82T>G	p.S28A	Missense	2/2	-	4
16-11349255-GGA-CTC	c.79_81delinsGAG	p.S27E	Missense	2/2	-	1
16-11349255-GG-TT	c.80_81delinsAA	p.S27*	Nonsense	2/2	-	1
16-11349254-AG-A	c.81del	p.S28Lfs*57	Frameshift	2/2	-	1
16-11349256-G-A	c.80C>T	p.S27F	Missense	2/2	-	2
16-11349256-G-T	c.80C>A	p.S27Y	Missense	2/2	-	1
16-11349257-A-C	c.79T>G	p.S27A	Missense	2/2	-	3
16-11349257-A-G	c.79T>C	p.S27P	Missense	2/2	-	1
16-11349258-G-A	c.78C>T	p.S26=	Synonymous	2/2	-	1
16-11349259-G-A	c.77C>T	p.S26F	Missense	2/2	-	2
16-11349259-G-T	c.77C>A	p.S26Y	Missense	2/2	-	1
16-11349260-A-C	c.76T>G	p.S26A	Missense	2/2	-	2
16-11349259-GA-G	c.76del	p.S26Pfs*59	Frameshift	2/2	-	1
16-11349262-G-A	c.74C>T	p.P25L	Missense	2/2	-	1
16-11349262-G-C	c.74C>G	p.P25R	Missense	2/2	-	2
16-11349262-G-T	c.74C>A	p.P25H	Missense	2/2	-	1
16-11349263-G-A	c.73C>T	p.P25S	Missense	2/2	-	4
16-11349263-G-C	c.73C>G	p.P25A	Missense	2/2	-	2
16-11349264-T-C	c.72A>G	p.E24=	Synonymous	2/2	-	1
16-11349265-T-G	c.71A>C	p.E24A	Missense	2/2	-	1
16-11349266-C-A	c.70G>T	p.E24*	Nonsense	2/2	-	3
16-11349266-C-G	c.70G>C	p.E24Q	Missense	2/2	-	3
16-11349266-C-T	c.70G>A	p.E24K	Missense	2/2	-	5
16-11349267-TG-AT	c.68_69delinsAT	p.P23H	Missense	2/2	-	1
16-11349269-G-A	c.67C>T	p.P23S	Missense	2/2	-	2
16-11349269-G-C	c.67C>G	p.P23A	Missense	2/2	-	1
16-11349269-GCCGC-G	c.63_66del	p.R22Qfs*62	Frameshift	2/2	-	1
16-11349271-CG-GT	c.64_65delinsAC	p.R22T	Missense	2/2	-	1
16-11349271-C-T	c.65G>A	p.R22Q	Missense	2/2	-	1
16-11349272-G-A	c.64C>T	p.R22W	Missense	2/2	-	3
16-11349273-CCG-GAT	c.61_63delinsATC	p.R21I	Missense	2/2	-	1
16-11349277-TCGGGGCTCTGCTGCTGTGGAGACTGCATTGTCGGC-T	c.25_59del	p.A9Tfs*96	Frameshift	2/2	-	1
16-11349278-G-C	c.58C>G	p.R20G	Missense	2/2	-	1
16-11349280-GG-CC	c.55_56inv	p.P19G	Missense	2/2	-	1
16-11349281-G-A	c.55C>T	p.P19S	Missense	2/2	-	3
16-11349281-G-C	c.55C>G	p.P19A	Missense	2/2	-	1
16-11349281-G-T	c.55C>A	p.P19T	Missense	2/2	-	1
16-11349282-C-A	c.54G>T	p.E18D	Missense	2/2	-	1
16-11349282-C-G	c.54G>C	p.E18D	Missense	2/2	-	1
16-11349283-TC-CT	c.52_53delinsAG	p.E18R	Missense	2/2	-	1
16-11349283-T-G	c.53A>C	p.E18A	Missense	2/2	-	1
16-11349280-GGCTCTGCT-G	c.48_55del	p.A17Pfs*97	Frameshift	2/2	-	1
16-11349284-C-T	c.52G>A	p.E18K	Missense	2/2	-	1
16-11349284-TCTGC-T	c.49_52del	p.A17Sfs*67	Frameshift	2/2	-	1
16-11349285-TGC-AAA	c.49_51delinsTTT	p.A17F	Missense	2/2	-	1
16-11349285-TGC-AGGTGT	c.49_51delinsACACCT	p.A17delinsTP	MultiAAMissense	2/2	-	1
16-11349285-TG-GT	c.50_51delinsAC	p.A17D	Missense	2/2	-	1
16-11349286-G-A	c.50C>T	p.A17V	Missense	2/2	-	3
16-11349286-G-C	c.50C>G	p.A17G	Missense	2/2	-	2
16-11349286-GC-AG	c.49_50delinsCT	p.A17L	Missense	2/2	-	1
16-11349286-GC-TG	c.49_50delinsCA	p.A17Q	Missense	2/2	-	1
16-11349286-GC-TT	c.49_50delinsAA	p.A17K	Missense	2/2	-	1
16-11349286-G-T	c.50C>A	p.A17E	Missense	2/2	-	1
16-11349284-CTGCTGCTG-C	c.44_51del	p.T15Rfs*99	Frameshift	2/2	-	1
16-11349287-C-A	c.49G>T	p.A17S	Missense	2/2	-	4
16-11349287-C-G	c.49G>C	p.A17P	Missense	2/2	-	13
16-11349287-C-T	c.49G>A	p.A17T	Missense	2/2	-	19
16-11349288-T-A	c.48A>T	p.A16=	Synonymous	2/2	-	1
16-11349288-T-C	c.48A>G	p.A16=	Synonymous	2/2	-	1
16-11349288-T-G	c.48A>C	p.A16=	Synonymous	2/2	-	1
16-11349288-TGC-GTT	c.46_48delinsAAC	p.A16N	Missense	2/2	-	1
16-11349289-G-A	c.47C>T	p.A16V	Missense	2/2	-	6
16-11349289-G-C	c.47C>G	p.A16G	Missense	2/2	-	1
16-11349289-GC-TA	c.46_47delinsTA	p.A16*	Nonsense	2/2	-	1
16-11349289-GC-TT	c.46_47delinsAA	p.A16K	Missense	2/2	-	1
16-11349289-G-T	c.47C>A	p.A16E	Missense	2/2	-	1
16-11349290-C-A	c.46G>T	p.A16S	Missense	2/2	-	4
16-11349290-C-T	c.46G>A	p.A16T	Missense	2/2	-	13
16-11349292-G-A	c.44C>T	p.T15I	Missense	2/2	-	6
16-11349292-G-T	c.44C>A	p.T15K	Missense	2/2	-	1
16-11349293-T-C	c.43A>G	p.T15A	Missense	2/2	-	1
16-11349293-T-G	c.43A>C	p.T15P	Missense	2/2	-	1
16-11349294-GGA-CTC	c.40_42delinsGAG	p.S14E	Missense	2/2	-	1
16-11349292-GTGGAGAC-G	c.37_43del	p.V13Qfs*70	Frameshift	2/2	-	1
16-11349295-G-A	c.41C>T	p.S14F	Missense	2/2	-	3
16-11349295-GA-CC	c.40_41delinsGG	p.S14G	Missense	2/2	-	1
16-11349295-GA-TC	c.40_41inv	p.S14D	Missense	2/2	-	4
16-11349295-G-C	c.41C>G	p.S14C	Missense	2/2	-	4
16-11349296-A-C	c.40T>G	p.S14A	Missense	2/2	-	7
16-11349296-A-T	c.40T>A	p.S14T	Missense	2/2	-	1
16-11349298-A-G	c.38T>C	p.V13A	Missense	2/2	-	1
16-11349299-C-G	c.37G>C	p.V13L	Missense	2/2	-	2
16-11349299-C-T	c.37G>A	p.V13I	Missense	2/2	-	2
16-11349298-ACTGCATTGT-A	c.29_37del	p.D10_A12del	InFrameDeletion	2/2	-	1
16-11349300-TGC-ATA	c.34_36delinsTAT	p.A12Y	Missense	2/2	-	1
16-11349300-TG-GT	c.35_36delinsAC	p.A12D	Missense	2/2	-	1
16-11349301-G-A	c.35C>T	p.A12V	Missense	2/2	-	1
16-11349301-G-C	c.35C>G	p.A12G	Missense	2/2	-	1
16-11349301-GC-TG	c.34_35delinsCA	p.A12Q	Missense	2/2	-	1
16-11349301-G-T	c.35C>A	p.A12E	Missense	2/2	-	1
16-11349302-C-T	c.34G>A	p.A12T	Missense	2/2	-	3
16-11349303-A-T	c.33T>A	p.N11K	Missense	2/2	-	3
16-11349304-T-C	c.32A>G	p.N11S	Missense	2/2	-	3
16-11349304-T-G	c.32A>C	p.N11T	Missense	2/2	-	1
16-11349304-TT-CC	c.31_32delinsGG	p.N11G	Missense	2/2	-	1
16-11349305-T-C	c.31A>G	p.N11D	Missense	2/2	-	1
16-11349306-TGTCGGCTGCCACC-T	c.18_30del	p.V7Mfs*74	Frameshift	2/2	-	1
16-11349307-T-C	c.29A>G	p.D10G	Missense	2/2	-	2
16-11349307-T-G	c.29A>C	p.D10A	Missense	2/2	-	3
16-11349308-C-A	c.28G>T	p.D10Y	Missense	2/2	-	1
16-11349309-G-A	c.27C>T	p.A9=	Synonymous	2/2	-	2
16-11349309-G-C	c.27C>G	p.A9=	Synonymous	2/2	-	1
16-11349309-G-T	c.27C>A	p.A9=	Synonymous	2/2	-	1
16-11349310-G-A	c.26C>T	p.A9V	Missense	2/2	-	5
16-11349310-G-C	c.26C>G	p.A9G	Missense	2/2	-	3
16-11349310-G-T	c.26C>A	p.A9D	Missense	2/2	-	1
16-11349311-GC-G	c.25del	p.A9Pfs*76	Frameshift	2/2	-	1
16-11349312-CT-C	c.24del	p.A9Pfs*76	Frameshift	2/2	-	2
16-11349314-C-A	c.22G>T	p.A8S	Missense	2/2	-	2
16-11349314-C-G	c.22G>C	p.A8P	Missense	2/2	-	1
16-11349314-C-T	c.22G>A	p.A8T	Missense	2/2	-	1
16-11349316-A-C	c.20T>G	p.V7G	Missense	2/2	-	1
16-11349317-C-A	c.19G>T	p.V7L	Missense	2/2	-	3
16-11349317-C-G	c.19G>C	p.V7L	Missense	2/2	-	3
16-11349317-C-T	c.19G>A	p.V7M	Missense	2/2	-	2
16-11349318-C-A	c.18G>T	p.Q6H	Missense	2/2	-	4
16-11349318-C-G	c.18G>C	p.Q6H	Missense	2/2	-	6
16-11349319-T-G	c.17A>C	p.Q6P	Missense	2/2	-	2
16-11349317-CCTGGTTGTGTG-C	c.8_18del	p.A3Gfs*110	Frameshift	2/2	-	1
16-11349320-G-A	c.16C>T	p.Q6*	Nonsense	2/2	-	8
16-11349320-G-C	c.16C>G	p.Q6E	Missense	2/2	-	3
16-11349320-TGGTTGTGTGCTAC-T	c.4_16del	p.V2Rfs*79	Frameshift	2/2	-	1
16-11349321-G-A	c.15C>T	p.N5=	Synonymous	2/2	-	1
16-11349321-G-C	c.15C>G	p.N5K	Missense	2/2	-	4
16-11349321-G-T	c.15C>A	p.N5K	Missense	2/2	-	3
16-11349322-T-A	c.14A>T	p.N5I	Missense	2/2	-	1
16-11349322-T-C	c.14A>G	p.N5S	Missense	2/2	-	1
16-11349322-T-G	c.14A>C	p.N5T	Missense	2/2	-	3
16-11349323-T-TA	c.12_13insT	p.N5*	Nonsense	2/2	-	1
16-11349324-G-A	c.12C>T	p.H4=	Synonymous	2/2	-	1
16-11349324-G-C	c.12C>G	p.H4Q	Missense	2/2	-	2
16-11349324-G-T	c.12C>A	p.H4Q	Missense	2/2	-	2
16-11349324-TGTGTGCTAC-T	c.4_12del	p.V2_H4del	InFrameDeletion	2/2	-	1
16-11349325-T-C	c.11A>G	p.H4R	Missense	2/2	-	1
16-11349326-G-A	c.10C>T	p.H4Y	Missense	2/2	-	2
16-11349322-TTG-T	c.12_13del	p.H4Qfs*112	Frameshift	2/2	-	1
16-11349327-T-A	c.9A>T	p.A3=	Synonymous	2/2	-	1
16-11349327-T-C	c.9A>G	p.A3=	Synonymous	2/2	-	2
16-11349327-T-G	c.9A>C	p.A3=	Synonymous	2/2	-	1
16-11349326-GTGC-G	c.7_9del	p.A3del	InFrameDeletion	2/2	-	1
16-11349328-G-A	c.8C>T	p.A3V	Missense	2/2	-	3
16-11349328-G-C	c.8C>G	p.A3G	Missense	2/2	-	1
16-11349328-GC-AT	c.7_8delinsAT	p.A3I	Missense	2/2	-	1
16-11349328-TGC-T	c.7_8del	p.A3Tfs*113	Frameshift	2/2	-	2
16-11349328-TGCTAC-T	c.4_8del	p.V2Tfs*113	Frameshift	2/2	-	1
16-11349329-C-G	c.7G>C	p.A3P	Missense	2/2	-	11
16-11349329-C-T	c.7G>A	p.A3T	Missense	2/2	-	3
16-11349329-GC-G	c.7del	p.A3Hfs*82	Frameshift	2/2	-	1
16-11349330-T-C	c.6A>G	p.V2=	Synonymous	2/2	-	1
16-11349331-A-C	c.5T>G	p.V2G	Missense	2/2	-	2
16-11349331-A-G	c.5T>C	p.V2A	Missense	2/2	-	7
16-11349331-A-T	c.5T>A	p.V2E	Missense	2/2	-	3
16-11349332-C-A	c.4G>T	p.V2L	Missense	2/2	-	6
16-11349332-C-G	c.4G>C	p.V2L	Missense	2/2	-	10
16-11349332-C-T	c.4G>A	p.V2I	Missense	2/2	-	7
16-11349333-C-A	c.3G>T	p.M1?	Missense	2/2	-	5
16-11349333-C-G	c.3G>C	p.M1?	Missense	2/2	-	4
16-11349333-C-T	c.3G>A	p.M1?	Missense	2/2	-	6
16-11349334-A-C	c.2T>G	p.M1?	Missense	2/2	-	2
16-11349334-A-G	c.2T>C	p.M1?	Missense	2/2	-	2
16-11349334-A-T	c.2T>A	p.M1?	Missense	2/2	-	1
16-11349335-T-A	c.1A>T	p.M1?	Missense	2/2	-	2
16-11349335-T-C	c.1A>G	p.M1?	Missense	2/2	-	4
16-11349335-T-G	c.1A>C	p.M1?	Missense	2/2	-	3