SND1

SND1 staphylococcal nuclease and tudor domain containing 1

Annotation transcript: NM_014390.4

1262 unique variant annotations were identified in 614 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
7-127292429-T-G	c.2T>G	p.M1?	Missense	1/24	-	1
7-127292430-G-A	c.3G>A	p.M1?	Missense	1/24	-	2
7-127292432-C-T	c.5C>T	p.A2V	Missense	1/24	-	2
7-127292433-G-A	c.6G>A	p.A2=	Synonymous	1/24	-	1
7-127292439-C-T	c.12C>T	p.S4=	Synonymous	1/24	-	1
7-127292440-G-A	c.13G>A	p.A5T	Missense	1/24	-	2
7-127292446-A-G	c.19A>G	p.S7G	Missense	1/24	-	1
7-127292448-C-T	c.21C>T	p.S7=	Synonymous	1/24	-	1
7-127292449-G-A	c.22G>A	p.G8S	Missense	1/24	-	1
7-127292449-G-T	c.22G>T	p.G8C	Missense	1/24	-	1
7-127292453-G-A	c.26G>A	p.G9D	Missense	1/24	-	1
7-127292455-CT-C	c.28del	p.S10Pfs*81	Frameshift	1/24	-	1
7-127292455-TC-GA	c.28_29inv	p.S10D	Missense	1/24	-	1
7-127292455-T-G	c.28T>G	p.S10A	Missense	1/24	-	9
7-127292456-C-G	c.29C>G	p.S10C	Missense	1/24	-	2
7-127292457-C-A	c.30C>A	p.S10=	Synonymous	1/24	-	2
7-127292457-C-G	c.30C>G	p.S10=	Synonymous	1/24	-	2
7-127292457-C-T	c.30C>T	p.S10=	Synonymous	1/24	-	2
7-127292458-CTCCGGGGGA-C	c.31_39del	p.S11_G13del	InFrameDeletion	1/24	-	1
7-127292458-T-G	c.31T>G	p.S11A	Missense	1/24	-	1
7-127292460-C-A	c.33C>A	p.S11=	Synonymous	1/24	-	1
7-127292460-C-G	c.33C>G	p.S11=	Synonymous	1/24	-	1
7-127292460-C-T	c.33C>T	p.S11=	Synonymous	1/24	-	1
7-127292459-C-CCGCACAAAGCGGTGGTAGCAG	c.34_35insCACAAAGCGGTGGTAGCAGCG	p.A5_S11dup	InFrameInsertion	1/24	-	1
7-127292461-G-GCGCAGAGCGGCGGCTC	c.34_35insCGCAGAGCGGCGGCTC	p.G12Afs*40	Frameshift	1/24	-	1
7-127292462-G-C	c.35G>C	p.G12A	Missense	1/24	-	2
7-127292462-GG-AC	c.35_36delinsAC	p.G12D	Missense	1/24	-	1
7-127292462-G-T	c.35G>T	p.G12V	Missense	1/24	-	1
7-127292466-A-G	c.39A>G	p.G13=	Synonymous	1/24	-	1
7-127292467-C-G	c.40C>G	p.P14A	Missense	1/24	-	1
7-127292470-GCG-CAT	c.43_45delinsCAT	p.A15H	Missense	1/24	-	2
7-127292470-G-T	c.43G>T	p.A15S	Missense	1/24	-	1
7-127292471-C-T	c.44C>T	p.A15V	Missense	1/24	-	1
7-127292476-C-A	c.49C>A	p.P17T	Missense	1/24	-	1
7-127292477-C-T	c.50C>T	p.P17L	Missense	1/24	-	1
7-127292479-A-G	c.52A>G	p.T18A	Missense	1/24	-	1
7-127292481-C-A	c.54C>A	p.T18=	Synonymous	1/24	-	1
7-127292482-G-A	c.55G>A	p.V19M	Missense	1/24	-	1
7-127292483-T-A	c.56T>A	p.V19E	Missense	1/24	-	1
7-127292484-G-A	c.57G>A	p.V19=	Synonymous	1/24	-	1
7-127292484-G-C	c.57G>C	p.V19=	Synonymous	1/24	-	1
7-127292484-G-T	c.57G>T	p.V19=	Synonymous	1/24	-	1
7-127292488-C-G	c.61C>G	p.R21G	Missense	1/24	-	1
7-127292488-C-T	c.61C>T	p.R21W	Missense	1/24	-	3
7-127292492-G-T	c.65G>T	p.G22V	Missense	1/24	-	1
7-127292498-T-C	c.71T>C	p.I24T	Missense	1/24	-	1
7-127292499-C-A	c.72C>A	p.I24=	Synonymous	1/24	-	1
7-127292499-C-G	c.72C>G	p.I24M	Missense	1/24	-	1
7-127292499-C-T	c.72C>T	p.I24=	Synonymous	1/24	-	1
7-127292502-G-A	c.75G>A	p.K25=	Synonymous	1/24	-	1
7-127292502-G-T	c.75G>T	p.K25N	Missense	1/24	-	1
7-127302401-ATTC-A	c.78+9899_78+9901del	-	IntronicDeletion	-	1/23	1
7-127303810-CT-C	c.78+11310del	-	IntronicDeletion	-	1/23	1
7-127305420-T-G	c.78+12915T>G	-	IntronicSNV	-	1/23	1
7-127308556-A-T	c.78+16051A>T	-	IntronicSNV	-	1/23	1
7-127309161-G-A	c.78+16656G>A	-	IntronicSNV	-	1/23	1
7-127322614-C-T	c.79-4053C>T	-	IntronicSNV	-	1/23	1
7-127326669-C-A	c.81C>A	p.V27=	Synonymous	2/24	-	1
7-127326669-C-G	c.81C>G	p.V27=	Synonymous	2/24	-	1
7-127326669-C-T	c.81C>T	p.V27=	Synonymous	2/24	-	1
7-127326670-C-T	c.82C>T	p.L28F	Missense	2/24	-	1
7-127326672-C-T	c.84C>T	p.L28=	Synonymous	2/24	-	1
7-127326675-A-C	c.87A>C	p.S29=	Synonymous	2/24	-	2
7-127326675-A-G	c.87A>G	p.S29=	Synonymous	2/24	-	1
7-127326675-A-T	c.87A>T	p.S29=	Synonymous	2/24	-	1
7-127326677-G-A	c.89G>A	p.G30E	Missense	2/24	-	1
7-127326677-GG-AC	c.89_90delinsAC	p.G30D	Missense	2/24	-	1
7-127326681-C-T	c.93C>T	p.C31=	Synonymous	2/24	-	3
7-127326682-G-A	c.94G>A	p.A32T	Missense	2/24	-	2
7-127326682-GC-AA	c.94_95delinsAA	p.A32N	Missense	2/24	-	1
7-127326682-GC-AT	c.94_95delinsAT	p.A32I	Missense	2/24	-	1
7-127326685-A-C	c.97A>C	p.I33L	Missense	2/24	-	1
7-127326687-C-G	c.99C>G	p.I33M	Missense	2/24	-	1
7-127326692-TC-AG	c.104_105delinsAG	p.V35E	Missense	2/24	-	1
7-127326693-C-A	c.105C>A	p.V35=	Synonymous	2/24	-	1
7-127326693-C-G	c.105C>G	p.V35=	Synonymous	2/24	-	1
7-127326693-C-T	c.105C>T	p.V35=	Synonymous	2/24	-	1
7-127326694-C-T	c.106C>T	p.R36*	Nonsense	2/24	-	2
7-127326695-G-A	c.107G>A	p.R36Q	Missense	2/24	-	1
7-127326695-GA-AT	c.107_108delinsAT	p.R36H	Missense	2/24	-	1
7-127326695-G-C	c.107G>C	p.R36P	Missense	2/24	-	1
7-127326697-GGT-TGA	c.109_111delinsTGA	p.G37*	Nonsense	2/24	-	1
7-127326700-C-G	c.112C>G	p.Q38E	Missense	2/24	-	4
7-127326701-A-C	c.113A>C	p.Q38P	Missense	2/24	-	1
7-127326703-C-T	c.115C>T	p.P39S	Missense	2/24	-	1
7-127326706-CGT-TGA	c.118_120delinsTGA	p.R40*	Nonsense	2/24	-	1
7-127326706-C-T	c.118C>T	p.R40C	Missense	2/24	-	3
7-127326707-G-A	c.119G>A	p.R40H	Missense	2/24	-	3
7-127326707-G-T	c.119G>T	p.R40L	Missense	2/24	-	3
7-127326708-T-A	c.120T>A	p.R40=	Synonymous	2/24	-	1
7-127326708-T-C	c.120T>C	p.R40=	Synonymous	2/24	-	1
7-127326708-T-G	c.120T>G	p.R40=	Synonymous	2/24	-	1
7-127326709-G-A	c.121G>A	p.G41S	Missense	2/24	-	1
7-127326710-G-C	c.122G>C	p.G41A	Missense	2/24	-	1
7-127326715-C-A	c.127C>A	p.P43T	Missense	2/24	-	1
7-127326717-T-A	c.129T>A	p.P43=	Synonymous	2/24	-	1
7-127326717-T-C	c.129T>C	p.P43=	Synonymous	2/24	-	1
7-127326717-T-G	c.129T>G	p.P43=	Synonymous	2/24	-	1
7-127326718-C-T	c.130C>T	p.P44S	Missense	2/24	-	3
7-127326719-C-G	c.131C>G	p.P44R	Missense	2/24	-	1
7-127326725-A-C	c.137A>C	p.E46A	Missense	2/24	-	1
7-127326727-C-T	c.139C>T	p.R47W	Missense	2/24	-	2
7-127326728-G-A	c.140G>A	p.R47Q	Missense	2/24	-	1
7-127326732-G-C	c.144G>C	p.Q48H	Missense	2/24	-	2
7-127326732-G-T	c.144G>T	p.Q48H	Missense	2/24	-	2
7-127326734-T-C	c.146T>C	p.I49T	Missense	2/24	-	1
7-127326736-AAC-CAA	c.148_150delinsCAA	p.N50Q	Missense	2/24	-	1
7-127326738-C-A	c.150C>A	p.N50K	Missense	2/24	-	1
7-127326741-C-A	c.153C>A	p.L51=	Synonymous	2/24	-	1
7-127326741-C-G	c.153C>G	p.L51=	Synonymous	2/24	-	1
7-127326741-C-T	c.153C>T	p.L51=	Synonymous	2/24	-	1
7-127326742-A-T	c.154A>T	p.S52C	Missense	2/24	-	1
7-127326744-C-T	c.156C>T	p.S52=	Synonymous	2/24	-	2
7-127326750-T-G	c.162T>G	p.I54M	Missense	2/24	-	1
7-127326751-C-T	c.163C>T	p.R55C	Missense	2/24	-	3
7-127326752-G-A	c.164G>A	p.R55H	Missense	2/24	-	4
7-127326752-GT-AA	c.164_165delinsAA	p.R55Q	Missense	2/24	-	1
7-127326753-T-G	c.165T>G	p.R55=	Synonymous	2/24	-	1
7-127326755-C-T	c.167C>T	p.A56V	Missense	2/24	-	1
7-127326758-G-A	c.170G>A	p.G57E	Missense	2/24	-	1
7-127326759-A-AT	c.171_172insT	p.N58*	Nonsense	2/24	-	2
7-127326763-C-G	c.175C>G	p.L59V	Missense	2/24	-	2
7-127326763-C-T	c.175C>T	p.L59F	Missense	2/24	-	1
7-127326766-G-A	c.178G>A	p.A60T	Missense	2/24	-	1
7-127326769-CGC-TGG	c.181_183delinsTGG	p.R61W	Missense	2/24	-	2
7-127326770-G-A	c.182G>A	p.R61H	Missense	2/24	-	4
7-127326771-C-T	c.183C>T	p.R61=	Synonymous	2/24	-	1
7-127326773-G-C	c.185G>C	p.R62P	Missense	2/24	-	1
7-127326773-G-T	c.185G>T	p.R62L	Missense	2/24	-	1
7-127326781-G-A	c.193G>A	p.A65T	Missense	2/24	-	1
7-127326782-C-T	c.194C>T	p.A65V	Missense	2/24	-	5
7-127326785-CA-TG	c.197_198inv	p.T66M	Missense	2/24	-	1
7-127326787-C-G	c.199C>G	p.Q67E	Missense	2/24	-	1
7-127326787-C-T	c.199C>T	p.Q67*	Nonsense	2/24	-	2
7-127326788-A-C	c.200A>C	p.Q67P	Missense	2/24	-	6
7-127326790-C-T	c.202C>T	p.P68S	Missense	2/24	-	1
7-127326795-T-A	c.207T>A	p.D69E	Missense	2/24	-	1
7-127326795-T-G	c.207T>G	p.D69E	Missense	2/24	-	1
7-127326796-G-A	c.208G>A	p.A70T	Missense	2/24	-	1
7-127326797-C-T	c.209C>T	p.A70V	Missense	2/24	-	1
7-127326801-G-A	c.213G>A	p.K71=	Synonymous	2/24	-	1
7-127326801-G-C	c.213G>C	p.K71N	Missense	2/24	-	3
7-127326801-G-T	c.213G>T	p.K71N	Missense	2/24	-	4
7-127326808-C-A	c.220C>A	p.P74T	Missense	2/24	-	1
7-127326809-C-T	c.221C>T	p.P74L	Missense	2/24	-	1
7-127326811-G-T	c.223G>T	p.D75Y	Missense	2/24	-	1
7-127326813-T-A	c.225T>A	p.D75E	Missense	2/24	-	1
7-127326813-T-G	c.225T>G	p.D75E	Missense	2/24	-	2
7-127326814-G-A	c.226G>A	p.E76K	Missense	2/24	-	2
7-127326818-T-C	c.228+2T>C	-	IntronicSNV	-	2/23	1
7-127326835-C-T	c.228+19C>T	-	IntronicSNV	-	2/23	1
7-127327059-T-C	c.228+243T>C	-	IntronicSNV	-	2/23	1
7-127334888-G-C	c.235G>C	p.A79P	Missense	3/24	-	1
7-127334894-C-T	c.241C>T	p.P81S	Missense	3/24	-	1
7-127334897-G-A	c.244G>A	p.A82T	Missense	3/24	-	1
7-127334897-GC-TT	c.244_245delinsTT	p.A82F	Missense	3/24	-	1
7-127334899-CT-C	c.246del	p.R83Efs*8	Frameshift	3/24	-	1
7-127334901-G-C	c.248G>C	p.R83P	Missense	3/24	-	1
7-127334906-T-C	c.253T>C	p.F85L	Missense	3/24	-	1
7-127334908-C-A	c.255C>A	p.F85L	Missense	3/24	-	1
7-127334908-C-G	c.255C>G	p.F85L	Missense	3/24	-	1
7-127334908-C-T	c.255C>T	p.F85=	Synonymous	3/24	-	1
7-127334908-CCTT-C	c.257_259del	p.L86del	InFrameDeletion	3/24	-	1
7-127334912-C-G	c.259C>G	p.R87G	Missense	3/24	-	1
7-127334913-G-A	c.260G>A	p.R87Q	Missense	3/24	-	1
7-127334916-A-T	c.263A>T	p.K88M	Missense	3/24	-	1
7-127334917-G-C	c.264G>C	p.K88N	Missense	3/24	-	2
7-127334917-G-T	c.264G>T	p.K88N	Missense	3/24	-	4
7-127334921-C-G	c.268C>G	p.L90V	Missense	3/24	-	1
7-127334922-T-C	c.269T>C	p.L90P	Missense	3/24	-	1
7-127334924-A-G	c.271A>G	p.I91V	Missense	3/24	-	2
7-127334932-G-C	c.279G>C	p.K93N	Missense	3/24	-	1
7-127334932-G-T	c.279G>T	p.K93N	Missense	3/24	-	1
7-127334933-G-A	c.280G>A	p.E94K	Missense	3/24	-	2
7-127334934-A-G	c.281A>G	p.E94G	Missense	3/24	-	1
7-127334937-T-C	c.284T>C	p.V95A	Missense	3/24	-	1
7-127334939-T-C	c.286T>C	p.C96R	Missense	3/24	-	1
7-127334941-T-A	c.288T>A	p.C96*	Nonsense	3/24	-	1
7-127334941-T-C	c.288T>C	p.C96=	Synonymous	3/24	-	1
7-127334944-C-T	c.291C>T	p.F97=	Synonymous	3/24	-	1
7-127334945-AC-GG	c.292_293delinsGG	p.T98G	Missense	3/24	-	9
7-127334945-A-G	c.292A>G	p.T98A	Missense	3/24	-	4
7-127334947-G-A	c.294G>A	p.T98=	Synonymous	3/24	-	1
7-127334947-G-C	c.294G>C	p.T98=	Synonymous	3/24	-	1
7-127334947-G-T	c.294G>T	p.T98=	Synonymous	3/24	-	1
7-127334947-G-GA	c.295dup	p.I99Nfs*44	Frameshift	3/24	-	2
7-127334951-G-A	c.298G>A	p.E100K	Missense	3/24	-	4
7-127334954-A-G	c.301A>G	p.N101D	Missense	3/24	-	1
7-127334964-C-A	c.311C>A	p.P104H	Missense	3/24	-	1
7-127334964-C-T	c.311C>T	p.P104L	Missense	3/24	-	1
7-127334966-C-A	c.313C>A	p.Q105K	Missense	3/24	-	2
7-127334968-G-A	c.315G>A	p.Q105=	Synonymous	3/24	-	1
7-127334969-GGG-TGT	c.316_318delinsTGT	p.G106C	Missense	3/24	-	1
7-127334971-G-A	c.318G>A	p.G106=	Synonymous	3/24	-	1
7-127334972-CGA-TGT	c.319_321delinsTGT	p.R107C	Missense	3/24	-	1
7-127334972-C-T	c.319C>T	p.R107*	Nonsense	3/24	-	1
7-127334977-G-C	c.324G>C	p.E108D	Missense	3/24	-	1
7-127334978-T-C	c.325T>C	p.Y109H	Missense	3/24	-	1
7-127334981-G-C	c.328G>C	p.G110R	Missense	3/24	-	1
7-127334982-GC-AG	c.329_330delinsAG	p.G110E	Missense	3/24	-	1
7-127334986-G-A	c.333G>A	p.M111I	Missense	3/24	-	2
7-127334986-G-C	c.333G>C	p.M111I	Missense	3/24	-	2
7-127334986-G-T	c.333G>T	p.M111I	Missense	3/24	-	4
7-127334988-T-G	c.335T>G	p.I112S	Missense	3/24	-	1
7-127335002-G-A	c.349G>A	p.D117N	Missense	3/24	-	1
7-127335003-G-A	c.349+1G>A	-	IntronicSNV	-	3/23	1
7-127335003-G-C	c.349+1G>C	-	IntronicSNV	-	3/23	1
7-127335010-G-T	c.349+8G>T	-	IntronicSNV	-	3/23	1
7-127338932-CC-TG	c.353_354delinsTG	p.T118M	Missense	4/24	-	1
7-127338939-G-T	c.360G>T	p.G120=	Synonymous	4/24	-	2
7-127338940-G-C	c.361G>C	p.E121Q	Missense	4/24	-	1
7-127338941-A-G	c.362A>G	p.E121G	Missense	4/24	-	1
7-127338944-A-G	c.365A>G	p.N122S	Missense	4/24	-	2
7-127338946-A-G	c.367A>G	p.I123V	Missense	4/24	-	2
7-127338947-T-C	c.368T>C	p.I123T	Missense	4/24	-	1
7-127338948-T-G	c.369T>G	p.I123M	Missense	4/24	-	1
7-127338949-G-A	c.370G>A	p.A124T	Missense	4/24	-	2
7-127338950-C-G	c.371C>G	p.A124G	Missense	4/24	-	1
7-127338952-G-A	c.373G>A	p.E125K	Missense	4/24	-	1
7-127338952-G-T	c.373G>T	p.E125*	Nonsense	4/24	-	3
7-127338956-C-T	c.377C>T	p.S126L	Missense	4/24	-	1
7-127338957-A-C	c.378A>C	p.S126=	Synonymous	4/24	-	1
7-127338957-A-G	c.378A>G	p.S126=	Synonymous	4/24	-	1
7-127338957-A-T	c.378A>T	p.S126=	Synonymous	4/24	-	1
7-127338964-G-T	c.385G>T	p.A129S	Missense	4/24	-	1
7-127338982-C-A	c.403C>A	p.R135=	Synonymous	4/24	-	1
7-127338982-CGG-AGC	c.403_405delinsAGC	p.R135S	Missense	4/24	-	1
7-127338982-C-T	c.403C>T	p.R135W	Missense	4/24	-	2
7-127338983-G-A	c.404G>A	p.R135Q	Missense	4/24	-	2
7-127338985-AGA-TGG	c.406_408delinsTGG	p.R136W	Missense	4/24	-	6
7-127338985-A-C	c.406A>C	p.R136=	Synonymous	4/24	-	2
7-127338987-A-G	c.408A>G	p.R136=	Synonymous	4/24	-	2
7-127338989-A-G	c.410A>G	p.E137G	Missense	4/24	-	1
7-127338991-G-C	c.412G>C	p.G138R	Missense	4/24	-	1
7-127338992-G-T	c.413G>T	p.G138V	Missense	4/24	-	1
7-127338996-G-A	c.417G>A	p.M139I	Missense	4/24	-	1
7-127338996-G-C	c.417G>C	p.M139I	Missense	4/24	-	3
7-127338996-G-T	c.417G>T	p.M139I	Missense	4/24	-	1
7-127338998-G-A	c.419G>A	p.R140K	Missense	4/24	-	1
7-127338998-G-T	c.419G>T	p.R140I	Missense	4/24	-	1
7-127339002-T-A	c.423T>A	p.A141=	Synonymous	4/24	-	2
7-127339002-T-C	c.423T>C	p.A141=	Synonymous	4/24	-	1
7-127339002-T-G	c.423T>G	p.A141=	Synonymous	4/24	-	1
7-127339004-A-G	c.425A>G	p.N142S	Missense	4/24	-	1
7-127339004-A-T	c.425A>T	p.N142I	Missense	4/24	-	1
7-127339007-A-ATCCTGAGCAGAACCGGCTTTCAGAATGTGAAGAACAAGCAAAGGCAGCCAAGAAAGGGATGTGGAGTGAGGG	c.428_428+1insTCCTGAGCAGAACCGGCTTTCAGAATGTGAAGAACAAGCAAAGGCAGCCAAGAAAGGGATGTGGAGTGAGGG	p.P144_G167dup	SpliceDonorInsertion	-	-	1
7-127339025-C-A	c.428+18C>A	-	IntronicSNV	-	4/23	1
7-127339538-C-G	c.428+531C>G	-	IntronicSNV	-	4/23	1
7-127341216-G-A	c.429-1G>A	-	IntronicSNV	-	4/23	2
7-127341216-G-C	c.429-1G>C	-	IntronicSNV	-	4/23	2
7-127341218-C-T	c.430C>T	p.P144S	Missense	5/24	-	1
7-127341225-A-G	c.437A>G	p.Q146R	Missense	5/24	-	1
7-127341227-A-G	c.439A>G	p.N147D	Missense	5/24	-	1
7-127341228-A-G	c.440A>G	p.N147S	Missense	5/24	-	1
7-127341229-C-T	c.441C>T	p.N147=	Synonymous	5/24	-	1
7-127341230-C-T	c.442C>T	p.R148W	Missense	5/24	-	1
7-127341233-C-T	c.445C>T	p.L149F	Missense	5/24	-	3
7-127341238-A-C	c.450A>C	p.S150=	Synonymous	5/24	-	1
7-127341238-A-G	c.450A>G	p.S150=	Synonymous	5/24	-	1
7-127341238-A-T	c.450A>T	p.S150=	Synonymous	5/24	-	1
7-127341248-G-A	c.460G>A	p.E154K	Missense	5/24	-	2
7-127341261-C-T	c.473C>T	p.A158V	Missense	5/24	-	2
7-127341264-C-T	c.476C>T	p.A159V	Missense	5/24	-	1
7-127341270-A-G	c.482A>G	p.K161R	Missense	5/24	-	1
7-127341272-G-A	c.484G>A	p.G162R	Missense	5/24	-	2
7-127341272-G-C	c.484G>C	p.G162R	Missense	5/24	-	1
7-127341281-A-G	c.493A>G	p.S165G	Missense	5/24	-	1
7-127341282-G-A	c.494G>A	p.S165N	Missense	5/24	-	1
7-127341286-G-C	c.498G>C	p.E166D	Missense	5/24	-	2
7-127341286-GG-TT	c.498_499delinsTT	p.E166_G167delinsDW	MultiAAMissense	5/24	-	1
7-127341286-G-T	c.498G>T	p.E166D	Missense	5/24	-	2
7-127341287-G-T	c.499G>T	p.G167W	Missense	5/24	-	2
7-127341290-AAC-CAA	c.502_504delinsCAA	p.N168Q	Missense	5/24	-	1
7-127341292-C-T	c.504C>T	p.N168=	Synonymous	5/24	-	1
7-127341293-G-A	c.505G>A	p.G169S	Missense	5/24	-	1
7-127341296-T-G	c.508T>G	p.S170A	Missense	5/24	-	1
7-127341298-A-T	c.510A>T	p.S170=	Synonymous	5/24	-	1
7-127341301-T-C	c.513T>C	p.H171=	Synonymous	5/24	-	3
7-127341306-T-G	c.518T>G	p.I173S	Missense	5/24	-	1
7-127341308-CGG-TGT	c.520_522delinsTGT	p.R174C	Missense	5/24	-	1
7-127341308-C-T	c.520C>T	p.R174W	Missense	5/24	-	2
7-127341309-G-A	c.521G>A	p.R174Q	Missense	5/24	-	1
7-127341309-GG-AT	c.521_522delinsAT	p.R174H	Missense	5/24	-	1
7-127341309-G-T	c.521G>T	p.R174L	Missense	5/24	-	1
7-127341310-G-A	c.522G>A	p.R174=	Synonymous	5/24	-	1
7-127341311-G-T	c.523G>T	p.D175Y	Missense	5/24	-	1
7-127341312-A-T	c.524A>T	p.D175V	Missense	5/24	-	1
7-127341318-A-G	c.530A>G	p.K177R	Missense	5/24	-	2
7-127341319-G-A	c.531G>A	p.K177=	Synonymous	5/24	-	1
7-127341323-A-G	c.535A>G	p.T179A	Missense	5/24	-	2
7-127341323-A-T	c.535A>T	p.T179S	Missense	5/24	-	1
7-127341324-C-G	c.536C>G	p.T179S	Missense	5/24	-	1
7-127341324-C-T	c.536C>T	p.T179I	Missense	5/24	-	1
7-127341326-A-G	c.538A>G	p.I180V	Missense	5/24	-	1
7-127341327-TT-AG	c.539_540delinsAG	p.I180K	Missense	5/24	-	1
7-127341329-G-T	c.541G>T	p.E181*	Nonsense	5/24	-	1
7-127341335-C-T	c.547C>T	p.P183S	Missense	5/24	-	5
7-127341336-C-T	c.548C>T	p.P183L	Missense	5/24	-	1
7-127341339-G-A	c.551G>A	p.R184K	Missense	5/24	-	1
7-127341340-G-A	c.552G>A	p.R184=	Synonymous	5/24	-	1
7-127341350-G-A	c.562G>A	p.D188N	Missense	5/24	-	1
7-127341354-C-A	c.566C>A	p.S189*	Nonsense	5/24	-	1
7-127341354-CA-GT	c.566_567delinsGT	p.S189C	Missense	5/24	-	1
7-127341354-C-G	c.566C>G	p.S189*	Nonsense	5/24	-	2
7-127341354-C-T	c.566C>T	p.S189L	Missense	5/24	-	1
7-127341361-C-A	c.573C>A	p.H191Q	Missense	5/24	-	2
7-127341361-C-G	c.573C>G	p.H191Q	Missense	5/24	-	1
7-127341362-C-G	c.574C>G	p.Q192E	Missense	5/24	-	1
7-127341362-C-T	c.574C>T	p.Q192*	Nonsense	5/24	-	5
7-127341365-A-G	c.577A>G	p.K193E	Missense	5/24	-	1
7-127341367-G-A	c.579G>A	p.K193=	Synonymous	5/24	-	1
7-127341369-C-T	c.581C>T	p.P194L	Missense	5/24	-	2
7-127341374-AA-GC	c.586_587delinsGC	p.N196A	Missense	5/24	-	1
7-127341591-G-GATAAA	c.589+214_589+215insATAAA	-	IntronicInsertion	-	5/23	1
7-127341591-G-GATACA	c.589+214_589+215insATACA	-	IntronicInsertion	-	5/23	1
7-127341591-G-GATACAT	c.589+214_589+215insATACAT	-	IntronicInsertion	-	5/23	1
7-127341591-G-GATACATTCTGCAGAA	c.589+214_589+215insATACATTCTGCAGAA	-	IntronicInsertion	-	5/23	1
7-127341595-T-TA	c.589+218_589+219insA	-	IntronicInsertion	-	5/23	1
7-127342489-C-G	c.590C>G	p.A197G	Missense	6/24	-	1
7-127342489-C-T	c.590C>T	p.A197V	Missense	6/24	-	1
7-127342491-A-G	c.592A>G	p.I198V	Missense	6/24	-	2
7-127342493-C-G	c.594C>G	p.I198M	Missense	6/24	-	3
7-127342496-C-A	c.597C>A	p.I199=	Synonymous	6/24	-	2
7-127342496-C-G	c.597C>G	p.I199M	Missense	6/24	-	1
7-127342496-C-T	c.597C>T	p.I199=	Synonymous	6/24	-	2
7-127342497-G-A	c.598G>A	p.E200K	Missense	6/24	-	2
7-127342497-G-C	c.598G>C	p.E200Q	Missense	6/24	-	1
7-127342503-G-C	c.604G>C	p.V202L	Missense	6/24	-	1
7-127342503-G-T	c.604G>T	p.V202L	Missense	6/24	-	1
7-127342504-T-A	c.605T>A	p.V202E	Missense	6/24	-	1
7-127342506-CG-AT	c.607_608delinsAT	p.R203M	Missense	6/24	-	1
7-127342511-C-T	c.612C>T	p.D204=	Synonymous	6/24	-	1
7-127342513-G-A	c.614G>A	p.G205D	Missense	6/24	-	1
7-127342516-G-A	c.617G>A	p.S206N	Missense	6/24	-	1
7-127342517-T-C	c.618T>C	p.S206=	Synonymous	6/24	-	1
7-127342519-T-C	c.620T>C	p.V207A	Missense	6/24	-	1
7-127342519-TG-T	c.622del	p.V208Sfs*82	Frameshift	6/24	-	1
7-127342527-G-A	c.628G>A	p.A210T	Missense	6/24	-	1
7-127342528-C-T	c.629C>T	p.A210V	Missense	6/24	-	2
7-127342529-C-A	c.630C>A	p.A210=	Synonymous	6/24	-	1
7-127342529-C-G	c.630C>G	p.A210=	Synonymous	6/24	-	1
7-127342529-C-T	c.630C>T	p.A210=	Synonymous	6/24	-	1
7-127342530-C-G	c.631C>G	p.L211V	Missense	6/24	-	2
7-127342533-C-T	c.634C>T	p.L212F	Missense	6/24	-	1
7-127342536-C-G	c.637C>G	p.L213V	Missense	6/24	-	1
7-127342540-C-G	c.641C>G	p.P214R	Missense	6/24	-	1
7-127342541-A-C	c.642A>C	p.P214=	Synonymous	6/24	-	1
7-127342541-A-G	c.642A>G	p.P214=	Synonymous	6/24	-	1
7-127342541-A-T	c.642A>T	p.P214=	Synonymous	6/24	-	1
7-127342544-T-C	c.645T>C	p.D215=	Synonymous	6/24	-	3
7-127342547-C-T	c.648C>T	p.Y216=	Synonymous	6/24	-	1
7-127342551-C-G	c.652C>G	p.L218V	Missense	6/24	-	1
7-127342554-G-C	c.655G>C	p.V219L	Missense	6/24	-	1
7-127342558-C-T	c.659C>T	p.T220I	Missense	6/24	-	1
7-127342560-G-T	c.661G>T	p.V221F	Missense	6/24	-	3
7-127342562-C-A	c.663C>A	p.V221=	Synonymous	6/24	-	1
7-127342565-G-T	c.666G>T	p.M222I	Missense	6/24	-	1
7-127342570-C-G	c.671C>G	p.S224*	Nonsense	6/24	-	1
7-127342578-A-C	c.679A>C	p.K227Q	Missense	6/24	-	1
7-127342582-T-C	c.681+2T>C	-	IntronicSNV	-	6/23	1
7-127343202-C-T	c.682-17C>T	-	IntronicSNV	-	6/23	1
7-127343219-T-G	c.682T>G	p.C228G	Missense	7/24	-	1
7-127343223-C-A	c.686C>A	p.P229Q	Missense	7/24	-	1
7-127343225-A-T	c.688A>T	p.T230S	Missense	7/24	-	1
7-127343226-C-G	c.689C>G	p.T230S	Missense	7/24	-	1
7-127343231-C-T	c.694C>T	p.R232*	Nonsense	7/24	-	4
7-127343232-G-T	c.695G>T	p.R232L	Missense	7/24	-	2
7-127343234-C-T	c.697C>T	p.R233W	Missense	7/24	-	4
7-127343235-G-A	c.698G>A	p.R233Q	Missense	7/24	-	1
7-127343240-G-A	c.703G>A	p.A235T	Missense	7/24	-	1
7-127343247-G-A	c.710G>A	p.G237D	Missense	7/24	-	1
7-127343247-G-C	c.710G>C	p.G237A	Missense	7/24	-	1
7-127343248-C-A	c.711C>A	p.G237=	Synonymous	7/24	-	1
7-127343248-C-G	c.711C>G	p.G237=	Synonymous	7/24	-	1
7-127343248-C-T	c.711C>T	p.G237=	Synonymous	7/24	-	1
7-127343252-G-A	c.715G>A	p.E239K	Missense	7/24	-	1
7-127343255-A-G	c.718A>G	p.T240A	Missense	7/24	-	3
7-127343256-C-T	c.719C>T	p.T240I	Missense	7/24	-	1
7-127343257-T-A	c.720T>A	p.T240=	Synonymous	7/24	-	1
7-127343257-T-C	c.720T>C	p.T240=	Synonymous	7/24	-	1
7-127343257-T-G	c.720T>G	p.T240=	Synonymous	7/24	-	1
7-127343259-C-T	c.722C>T	p.P241L	Missense	7/24	-	7
7-127343261-G-A	c.724G>A	p.E242K	Missense	7/24	-	2
7-127343263-G-A	c.726G>A	p.E242=	Synonymous	7/24	-	1
7-127343265-C-T	c.728C>T	p.P243L	Missense	7/24	-	2
7-127343268-T-C	c.731T>C	p.F244S	Missense	7/24	-	1
7-127343273-G-A	c.736G>A	p.A246T	Missense	7/24	-	1
7-127343283-A-G	c.746A>G	p.K249R	Missense	7/24	-	1
7-127343284-A-C	c.747A>C	p.K249N	Missense	7/24	-	2
7-127343284-A-G	c.747A>G	p.K249=	Synonymous	7/24	-	1
7-127343284-A-T	c.747A>T	p.K249N	Missense	7/24	-	3
7-127343286-T-C	c.749T>C	p.F250S	Missense	7/24	-	1
7-127343284-AT-A	c.752del	p.F251Sfs*39	Frameshift	7/24	-	1
7-127343290-C-T	c.753C>T	p.F251=	Synonymous	7/24	-	1
7-127343293-T-A	c.756T>A	p.T252=	Synonymous	7/24	-	1
7-127343293-T-G	c.756T>G	p.T252=	Synonymous	7/24	-	1
7-127343298-C-T	c.761C>T	p.S254L	Missense	7/24	-	1
7-127343299-G-A	c.762G>A	p.S254=	Synonymous	7/24	-	1
7-127343300-C-T	c.763C>T	p.R255*	Nonsense	7/24	-	1
7-127343304-T-A	c.767T>A	p.L256Q	Missense	7/24	-	1
7-127343309-C-A	c.772C>A	p.Q258K	Missense	7/24	-	1
7-127343309-C-T	c.772C>T	p.Q258*	Nonsense	7/24	-	2
7-127343311-G-C	c.774G>C	p.Q258H	Missense	7/24	-	1
7-127343312-AGA-CAT	c.775_777delinsCAT	p.R259H	Missense	7/24	-	1
7-127343318-G-C	c.781G>C	p.V261L	Missense	7/24	-	1
7-127343322-A-G	c.785A>G	p.Q262R	Missense	7/24	-	1
7-127343323-G-C	c.786G>C	p.Q262H	Missense	7/24	-	1
7-127343323-G-T	c.786G>T	p.Q262H	Missense	7/24	-	1
7-127343325-T-C	c.788T>C	p.I263T	Missense	7/24	-	1
7-127343326-C-T	c.789C>T	p.I263=	Synonymous	7/24	-	1
7-127343329-T-A	c.792T>A	p.I264=	Synonymous	7/24	-	1
7-127343329-T-C	c.792T>C	p.I264=	Synonymous	7/24	-	1
7-127343330-C-T	c.793C>T	p.L265=	Synonymous	7/24	-	1
7-127343336-AG-CC	c.799_800delinsCC	p.S267P	Missense	7/24	-	1
7-127343337-G-C	c.800G>C	p.S267T	Missense	7/24	-	2
7-127343340-G-A	c.803G>A	p.C268Y	Missense	7/24	-	1
7-127343340-GC-G	c.805del	p.H269Tfs*21	Frameshift	7/24	-	1
7-127343354-A-G	c.817A>G	p.I273V	Missense	7/24	-	1
7-127343357-C-G	c.820C>G	p.L274V	Missense	7/24	-	5
7-127343360-G-GT	c.823_824insT	p.G275Vfs*61	Frameshift	7/24	-	1
7-127343360-G-T	c.823G>T	p.G275C	Missense	7/24	-	1
7-127343361-G-A	c.824G>A	p.G275D	Missense	7/24	-	2
7-127343366-A-G	c.829A>G	p.I277V	Missense	7/24	-	2
7-127343370-T-C	c.833T>C	p.L278P	Missense	7/24	-	1
7-127343372-C-T	c.835C>T	p.H279Y	Missense	7/24	-	1
7-127343376-C-A	c.839C>A	p.P280Q	Missense	7/24	-	1
7-127343376-CA-AT	c.839_840delinsAT	p.P280H	Missense	7/24	-	1
7-127343376-C-T	c.839C>T	p.P280L	Missense	7/24	-	1
7-127343378-G-A	c.840+1G>A	-	IntronicSNV	-	7/23	1
7-127344680-G-A	c.841-213G>A	-	IntronicSNV	-	7/23	2
7-127344896-G-A	c.844G>A	p.G282S	Missense	8/24	-	1
7-127344896-G-T	c.844G>T	p.G282C	Missense	8/24	-	1
7-127344899-AAC-CAA	c.847_849delinsCAA	p.N283Q	Missense	8/24	-	1
7-127344903-T-A	c.851T>A	p.I284N	Missense	8/24	-	1
7-127344903-TCACAGAG-T	c.853_859del	p.T285Sfs*3	Frameshift	8/24	-	1
7-127344906-C-T	c.854C>T	p.T285I	Missense	8/24	-	1
7-127344908-G-A	c.856G>A	p.E286K	Missense	8/24	-	3
7-127344908-G-T	c.856G>T	p.E286*	Nonsense	8/24	-	2
7-127344910-G-A	c.858G>A	p.E286=	Synonymous	8/24	-	2
7-127344913-C-T	c.861C>T	p.L287=	Synonymous	8/24	-	1
7-127344915-T-G	c.863T>G	p.L288R	Missense	8/24	-	1
7-127344916-C-T	c.864C>T	p.L288=	Synonymous	8/24	-	3
7-127344923-G-A	c.871G>A	p.E291K	Missense	8/24	-	1
7-127344923-G-C	c.871G>C	p.E291Q	Missense	8/24	-	1
7-127344927-GT-AG	c.875_876delinsAG	p.G292E	Missense	8/24	-	1
7-127344931-C-T	c.879C>T	p.F293=	Synonymous	8/24	-	2
7-127344935-C-T	c.883C>T	p.R295C	Missense	8/24	-	1
7-127344950-TC-AG	c.898_899delinsAG	p.S300R	Missense	8/24	-	1
7-127344951-C-A	c.899C>A	p.S300*	Nonsense	8/24	-	1
7-127344954-T-C	c.902T>C	p.I301T	Missense	8/24	-	1
7-127344959-G-A	c.907G>A	p.V303I	Missense	8/24	-	1
7-127344960-T-G	c.908T>G	p.V303G	Missense	8/24	-	1
7-127344965-ACCCGGGGCG-A	c.915_923del	p.R306_A308del	InFrameDeletion	8/24	-	1
7-127344968-C-T	c.916C>T	p.R306W	Missense	8/24	-	3
7-127344969-G-A	c.917G>A	p.R306Q	Missense	8/24	-	1
7-127344974-G-A	c.922G>A	p.A308T	Missense	8/24	-	1
7-127344977-G-A	c.925G>A	p.E309K	Missense	8/24	-	2
7-127344978-A-C	c.926A>C	p.E309A	Missense	8/24	-	1
7-127344984-T-C	c.932T>C	p.L311P	Missense	8/24	-	1
7-127344986-A-C	c.934A>C	p.R312=	Synonymous	8/24	-	1
7-127344987-G-A	c.935G>A	p.R312K	Missense	8/24	-	1
7-127344988-G-C	c.936G>C	p.R312S	Missense	8/24	-	1
7-127344988-G-T	c.936G>T	p.R312S	Missense	8/24	-	1
7-127344990-C-T	c.938C>T	p.A313V	Missense	8/24	-	2
7-127344992-G-A	c.940G>A	p.A314T	Missense	8/24	-	1
7-127344995-G-C	c.943G>C	p.E315Q	Missense	8/24	-	3
7-127344997-G-C	c.945G>C	p.E315D	Missense	8/24	-	1
7-127344997-G-T	c.945G>T	p.E315D	Missense	8/24	-	1
7-127345000-G-T	c.947+1G>T	-	IntronicSNV	-	8/23	1
7-127346478-T-A	c.948-1133T>A	-	IntronicSNV	-	8/23	1
7-127347615-TG-T	c.952del	p.A318Pfs*6	Frameshift	9/24	-	1
7-127347615-GC-G	c.954del	p.E320Sfs*4	Frameshift	9/24	-	1
7-127347619-A-C	c.956A>C	p.K319T	Missense	9/24	-	1
7-127347625-G-A	c.962G>A	p.R321H	Missense	9/24	-	2
7-127347629-G-C	c.966G>C	p.R322S	Missense	9/24	-	1
7-127347629-G-T	c.966G>T	p.R322S	Missense	9/24	-	2
7-127347630-CTG-TTT	c.967_969delinsTTT	p.L323F	Missense	9/24	-	1
7-127347632-G-A	c.969G>A	p.L323=	Synonymous	9/24	-	1
7-127347633-AGA-TGG	c.970_972delinsTGG	p.R324W	Missense	9/24	-	1
7-127347641-G-A	c.978G>A	p.W326*	Nonsense	9/24	-	1
7-127347643-G-A	c.980G>A	p.R327K	Missense	9/24	-	2
7-127347644-A-C	c.981A>C	p.R327S	Missense	9/24	-	2
7-127347644-A-T	c.981A>T	p.R327S	Missense	9/24	-	1
7-127347645-G-A	c.982G>A	p.D328N	Missense	9/24	-	2
7-127347646-A-T	c.983A>T	p.D328V	Missense	9/24	-	1
7-127347647-C-T	c.984C>T	p.D328=	Synonymous	9/24	-	1
7-127347651-G-C	c.988G>C	p.V330L	Missense	9/24	-	1
7-127347651-GTG-ATC	c.988_990delinsATC	p.V330I	Missense	9/24	-	1
7-127347655-C-T	c.992C>T	p.A331V	Missense	9/24	-	1
7-127347657-C-A	c.994C>A	p.P332T	Missense	9/24	-	1
7-127347663-G-C	c.1000G>C	p.A334P	Missense	9/24	-	1
7-127347673-A-G	c.1010A>G	p.D337G	Missense	9/24	-	2
7-127347676-A-T	c.1013A>T	p.Q338L	Missense	9/24	-	1
7-127347681-G-T	c.1018G>T	p.D340Y	Missense	9/24	-	1
7-127347686-G-A	c.1023G>A	p.K341=	Synonymous	9/24	-	1
7-127347693-G-A	c.1030G>A	p.V344I	Missense	9/24	-	1
7-127347693-GT-G	c.1032del	p.A345Pfs*3	Frameshift	9/24	-	1
7-127347703-T-C	c.1038+2T>C	-	IntronicSNV	-	9/23	1
7-127347733-G-C	c.1038+32G>C	-	IntronicSNV	-	9/23	5
7-127347733-G-T	c.1038+32G>T	-	IntronicSNV	-	9/23	4
7-127347821-AG-A	c.1038+120del	-	IntronicDeletion	-	9/23	1
7-127347820-AGTGT-A	c.1038+162_1038+165del	-	IntronicDeletion	-	9/23	2
7-127347820-AGT-A	c.1038+164_1038+165del	-	IntronicDeletion	-	9/23	2
7-127347929-A-G	c.1038+228A>G	-	IntronicSNV	-	9/23	1
7-127348491-T-C	c.1038+790T>C	-	IntronicSNV	-	9/23	1
7-127352931-G-C	c.1038+5230G>C	-	IntronicSNV	-	9/23	1
7-127353431-A-G	c.1038+5730A>G	-	IntronicSNV	-	9/23	1
7-127357644-G-A	c.1039-3697G>A	-	IntronicSNV	-	9/23	1
7-127361269-G-A	c.1039-72G>A	-	IntronicSNV	-	9/23	3
7-127361334-C-T	c.1039-7C>T	-	IntronicSNV	-	9/23	1
7-127361348-A-G	c.1046A>G	p.Q349R	Missense	10/24	-	1
7-127361349-G-A	c.1047G>A	p.Q349=	Synonymous	10/24	-	1
7-127361353-C-T	c.1051C>T	p.L351=	Synonymous	10/24	-	1
7-127361355-G-A	c.1053G>A	p.L351=	Synonymous	10/24	-	1
7-127361355-G-C	c.1053G>C	p.L351=	Synonymous	10/24	-	1
7-127361355-G-T	c.1053G>T	p.L351=	Synonymous	10/24	-	1
7-127361362-G-C	c.1060G>C	p.D354H	Missense	10/24	-	1
7-127361368-A-G	c.1066A>G	p.I356V	Missense	10/24	-	1
7-127361371-GTT-ATG	c.1069_1071delinsATG	p.V357M	Missense	10/24	-	1
7-127361381-T-C	c.1079T>C	p.L360P	Missense	10/24	-	1
7-127361390-G-A	c.1088G>A	p.G363D	Missense	10/24	-	1
7-127361390-G-C	c.1088G>C	p.G363A	Missense	10/24	-	2
7-127361391-C-A	c.1089C>A	p.G363=	Synonymous	10/24	-	2
7-127361391-C-G	c.1089C>G	p.G363=	Synonymous	10/24	-	2
7-127361391-C-T	c.1089C>T	p.G363=	Synonymous	10/24	-	2
7-127361392-G-A	c.1090G>A	p.D364N	Missense	10/24	-	1
7-127361398-A-C	c.1096A>C	p.K366Q	Missense	10/24	-	1
7-127361401-A-G	c.1099A>G	p.T367A	Missense	10/24	-	1
7-127361403-G-A	c.1101G>A	p.T367=	Synonymous	10/24	-	1
7-127361403-G-C	c.1101G>C	p.T367=	Synonymous	10/24	-	1
7-127361403-G-T	c.1101G>T	p.T367=	Synonymous	10/24	-	1
7-127361411-T-G	c.1109T>G	p.L370R	Missense	10/24	-	1
7-127361414-C-G	c.1112C>G	p.S371C	Missense	10/24	-	1
7-127361416-AGC-TGA	c.1114_1116delinsTGA	p.S372*	Nonsense	10/24	-	1
7-127361418-C-T	c.1116C>T	p.S372=	Synonymous	10/24	-	1
7-127361422-C-A	c.1120C>A	p.R374=	Synonymous	10/24	-	1
7-127361424-A-C	c.1122A>C	p.R374=	Synonymous	10/24	-	1
7-127361424-A-G	c.1122A>G	p.R374=	Synonymous	10/24	-	1
7-127361424-A-T	c.1122A>T	p.R374=	Synonymous	10/24	-	1
7-127361423-G-A	c.1121G>A	p.R374Q	Missense	10/24	-	1
7-127361428-C-T	c.1126C>T	p.P376S	Missense	10/24	-	3
7-127361429-C-T	c.1127C>T	p.P376L	Missense	10/24	-	3
7-127361430-G-A	c.1128G>A	p.P376=	Synonymous	10/24	-	1
7-127361430-G-C	c.1128G>C	p.P376=	Synonymous	10/24	-	1
7-127361430-G-T	c.1128G>T	p.P376=	Synonymous	10/24	-	1
7-127361434-C-T	c.1132C>T	p.L378=	Synonymous	10/24	-	2
7-127361436-G-A	c.1134G>A	p.L378=	Synonymous	10/24	-	3
7-127361436-G-C	c.1134G>C	p.L378=	Synonymous	10/24	-	1
7-127361436-G-T	c.1134G>T	p.L378=	Synonymous	10/24	-	1
7-127361437-G-A	c.1135G>A	p.E379K	Missense	10/24	-	1
7-127361440-G-T	c.1138G>T	p.G380W	Missense	10/24	-	2
7-127362078-AT-A	c.1152+633del	-	IntronicDeletion	-	10/23	1
7-127362545-C-CT	c.1152+1099dup	-	IntronicInsertion	-	10/23	1
7-127369465-G-A	c.1152+8011G>A	-	IntronicSNV	-	10/23	1
7-127374742-T-C	c.1152+13288T>C	-	IntronicSNV	-	10/23	1
7-127377250-C-G	c.1152+15796C>G	-	IntronicSNV	-	10/23	1
7-127378340-C-T	c.1152+16886C>T	-	IntronicSNV	-	10/23	1
7-127384295-AT-A	c.1152+22848del	-	IntronicDeletion	-	10/23	1
7-127384592-G-A	c.1152+23138G>A	-	IntronicSNV	-	10/23	1
7-127384592-G-C	c.1152+23138G>C	-	IntronicSNV	-	10/23	1
7-127384592-G-T	c.1152+23138G>T	-	IntronicSNV	-	10/23	1
7-127384593-T-A	c.1152+23139T>A	-	IntronicSNV	-	10/23	1
7-127384593-T-C	c.1152+23139T>C	-	IntronicSNV	-	10/23	1
7-127422598-C-T	c.1153-24940C>T	-	IntronicSNV	-	10/23	1
7-127426075-A-T	c.1153-21463A>T	-	IntronicSNV	-	10/23	1
7-127441137-C-T	c.1153-6401C>T	-	IntronicSNV	-	10/23	1
7-127447499-A-T	c.1153-39A>T	-	IntronicSNV	-	10/23	7
7-127447520-G-A	c.1153-18G>A	-	IntronicSNV	-	10/23	1
7-127447543-G-A	c.1158G>A	p.K386=	Synonymous	11/24	-	2
7-127447544-A-G	c.1159A>G	p.N387D	Missense	11/24	-	1
7-127447545-A-G	c.1160A>G	p.N387S	Missense	11/24	-	1
7-127447548-A-G	c.1163A>G	p.K388R	Missense	11/24	-	1
7-127447549-G-C	c.1164G>C	p.K388N	Missense	11/24	-	1
7-127447549-G-T	c.1164G>T	p.K388N	Missense	11/24	-	1
7-127447555-G-A	c.1170G>A	p.L390=	Synonymous	11/24	-	1
7-127447556-CGT-TGG	c.1171_1173delinsTGG	p.R391W	Missense	11/24	-	1
7-127447556-C-T	c.1171C>T	p.R391C	Missense	11/24	-	9
7-127447557-G-A	c.1172G>A	p.R391H	Missense	11/24	-	4
7-127447558-T-A	c.1173T>A	p.R391=	Synonymous	11/24	-	3
7-127447558-T-C	c.1173T>C	p.R391=	Synonymous	11/24	-	3
7-127447558-T-G	c.1173T>G	p.R391=	Synonymous	11/24	-	3
7-127447559-C-T	c.1174C>T	p.P392S	Missense	11/24	-	3
7-127447560-C-A	c.1175C>A	p.P392H	Missense	11/24	-	1
7-127447560-C-T	c.1175C>T	p.P392L	Missense	11/24	-	1
7-127447566-A-G	c.1181A>G	p.Y394C	Missense	11/24	-	4
7-127447566-A-T	c.1181A>T	p.Y394F	Missense	11/24	-	1
7-127447568-G-A	c.1183G>A	p.D395N	Missense	11/24	-	2
7-127447578-A-G	c.1193A>G	p.Y398C	Missense	11/24	-	1
7-127447584-T-C	c.1199T>C	p.F400S	Missense	11/24	-	1
7-127447585-T-C	c.1200T>C	p.F400=	Synonymous	11/24	-	1
7-127447589-G-A	c.1204G>A	p.A402T	Missense	11/24	-	2
7-127447590-C-G	c.1205C>G	p.A402G	Missense	11/24	-	1
7-127447604-C-T	c.1219C>T	p.R407*	Nonsense	11/24	-	3
7-127447605-G-A	c.1220G>A	p.R407Q	Missense	11/24	-	1
7-127447605-G-T	c.1220G>T	p.R407L	Missense	11/24	-	1
7-127447609-A-C	c.1224A>C	p.K408N	Missense	11/24	-	1
7-127447609-A-T	c.1224A>T	p.K408N	Missense	11/24	-	1
7-127447605-G-GA	c.1226dup	p.L410Afs*14	Frameshift	11/24	-	1
7-127447613-C-T	c.1228C>T	p.L410F	Missense	11/24	-	1
7-127447619-GGG-AGC	c.1234_1236delinsAGC	p.G412S	Missense	11/24	-	2
7-127447620-G-C	c.1235G>C	p.G412A	Missense	11/24	-	1
7-127447620-G-T	c.1235G>T	p.G412V	Missense	11/24	-	1
7-127447621-G-A	c.1236G>A	p.G412=	Synonymous	11/24	-	1
7-127447627-G-T	c.1242G>T	p.K414N	Missense	11/24	-	1
7-127447658-A-T	c.1242+31A>T	-	IntronicSNV	-	11/23	1
7-127448575-T-C	c.1242+948T>C	-	IntronicSNV	-	11/23	1
7-127451763-C-T	c.1242+4136C>T	-	IntronicSNV	-	11/23	1
7-127452572-C-G	c.1242+4945C>G	-	IntronicSNV	-	11/23	1
7-127452846-TA-T	c.1242+5224del	-	IntronicDeletion	-	11/23	1
7-127453348-C-T	c.1242+5721C>T	-	IntronicSNV	-	11/23	1
7-127454874-G-A	c.1242+7247G>A	-	IntronicSNV	-	11/23	1
7-127459296-C-T	c.1242+11669C>T	-	IntronicSNV	-	11/23	1
7-127484380-AAT-CAA	c.1246_1248delinsCAA	p.N416Q	Missense	12/24	-	1
7-127484381-A-G	c.1247A>G	p.N416S	Missense	12/24	-	1
7-127484387-C-A	c.1253C>A	p.T418K	Missense	12/24	-	1
7-127484387-C-T	c.1253C>T	p.T418M	Missense	12/24	-	2
7-127484388-G-A	c.1254G>A	p.T418=	Synonymous	12/24	-	2
7-127484388-G-C	c.1254G>C	p.T418=	Synonymous	12/24	-	1
7-127484388-G-T	c.1254G>T	p.T418=	Synonymous	12/24	-	1
7-127484392-G-A	c.1258G>A	p.D420N	Missense	12/24	-	1
7-127484392-G-T	c.1258G>T	p.D420Y	Missense	12/24	-	2
7-127484398-A-G	c.1264A>G	p.I422V	Missense	12/24	-	2
7-127484404-C-T	c.1270C>T	p.P424S	Missense	12/24	-	3
7-127484410-AG-GC	c.1276_1277delinsGC	p.S426A	Missense	12/24	-	1
7-127484411-G-C	c.1277G>C	p.S426T	Missense	12/24	-	1
7-127484412-C-T	c.1278C>T	p.S426=	Synonymous	12/24	-	1
7-127484414-C-T	c.1280C>T	p.P427L	Missense	12/24	-	1
7-127484415-A-C	c.1281A>C	p.P427=	Synonymous	12/24	-	1
7-127484415-A-G	c.1281A>G	p.P427=	Synonymous	12/24	-	1
7-127484415-A-T	c.1281A>T	p.P427=	Synonymous	12/24	-	1
7-127484417-C-T	c.1283C>T	p.A428V	Missense	12/24	-	1
7-127484419-A-G	c.1285A>G	p.T429A	Missense	12/24	-	1
7-127484422-G-A	c.1288G>A	p.E430K	Missense	12/24	-	1
7-127484424-G-T	c.1290G>T	p.E430D	Missense	12/24	-	1
7-127484425-A-G	c.1291A>G	p.T431A	Missense	12/24	-	1
7-127484426-C-T	c.1292C>T	p.T431I	Missense	12/24	-	1
7-127484436-C-A	c.1302C>A	p.A434=	Synonymous	12/24	-	1
7-127484436-C-G	c.1302C>G	p.A434=	Synonymous	12/24	-	1
7-127484436-C-T	c.1302C>T	p.A434=	Synonymous	12/24	-	1
7-127484442-A-C	c.1308A>C	p.S436=	Synonymous	12/24	-	1
7-127484442-A-G	c.1308A>G	p.S436=	Synonymous	12/24	-	1
7-127484442-A-T	c.1308A>T	p.S436=	Synonymous	12/24	-	1
7-127484443-G-C	c.1309G>C	p.E437Q	Missense	12/24	-	1
7-127484446-C-T	c.1312C>T	p.R438C	Missense	12/24	-	1
7-127484447-G-A	c.1313G>A	p.R438H	Missense	12/24	-	1
7-127484449-A-T	c.1315A>T	p.T439S	Missense	12/24	-	1
7-127484450-C-G	c.1316C>G	p.T439S	Missense	12/24	-	1
7-127484450-C-T	c.1316C>T	p.T439I	Missense	12/24	-	1
7-127484453-G-T	c.1319G>T	p.C440F	Missense	12/24	-	2
7-127484454-T-C	c.1320T>C	p.C440=	Synonymous	12/24	-	1
7-127484456-C-G	c.1322C>G	p.A441G	Missense	12/24	-	1
7-127484459-CT-TG	c.1325_1326delinsTG	p.T442M	Missense	12/24	-	1
7-127484464-A-T	c.1330A>T	p.T444S	Missense	12/24	-	1
7-127484465-C-G	c.1331C>G	p.T444S	Missense	12/24	-	1
7-127484466-C-A	c.1332C>A	p.T444=	Synonymous	12/24	-	1
7-127484466-C-G	c.1332C>G	p.T444=	Synonymous	12/24	-	1
7-127484466-C-T	c.1332C>T	p.T444=	Synonymous	12/24	-	1
7-127484470-G-A	c.1336G>A	p.G446R	Missense	12/24	-	1
7-127484470-G-C	c.1336G>C	p.G446R	Missense	12/24	-	2
7-127484476-A-G	c.1342A>G	p.I448V	Missense	12/24	-	2
7-127484517-A-G	c.1343+40A>G	-	IntronicSNV	-	12/23	1
7-127486462-A-G	c.1343+1985A>G	-	IntronicSNV	-	12/23	1
7-127489124-T-G	c.1343+4647T>G	-	IntronicSNV	-	12/23	1
7-127490960-C-G	c.1343+6483C>G	-	IntronicSNV	-	12/23	1
7-127492507-C-T	c.1343+8030C>T	-	IntronicSNV	-	12/23	1
7-127492822-C-T	c.1343+8345C>T	-	IntronicSNV	-	12/23	1
7-127498002-C-CA	c.1343+13526dup	-	IntronicInsertion	-	12/23	1
7-127498556-G-A	c.1343+14079G>A	-	IntronicSNV	-	12/23	1
7-127506080-C-T	c.1343+21603C>T	-	IntronicSNV	-	12/23	1
7-127510489-A-G	c.1344-17466A>G	-	IntronicSNV	-	12/23	1
7-127511705-T-C	c.1344-16250T>C	-	IntronicSNV	-	12/23	1
7-127515670-A-G	c.1344-12285A>G	-	IntronicSNV	-	12/23	1
7-127519278-T-A	c.1344-8677T>A	-	IntronicSNV	-	12/23	1
7-127527962-G-A	c.1351G>A	p.A451T	Missense	13/24	-	1
7-127527965-G-A	c.1354G>A	p.E452K	Missense	13/24	-	1
7-127527967-G-A	c.1356G>A	p.E452=	Synonymous	13/24	-	1
7-127527969-C-A	c.1358C>A	p.A453D	Missense	13/24	-	1
7-127527971-C-T	c.1360C>T	p.L454F	Missense	13/24	-	1
7-127527973-T-A	c.1362T>A	p.L454=	Synonymous	13/24	-	1
7-127527973-T-C	c.1362T>C	p.L454=	Synonymous	13/24	-	3
7-127527973-T-G	c.1362T>G	p.L454=	Synonymous	13/24	-	1
7-127527984-G-A	c.1373G>A	p.G458D	Missense	13/24	-	3
7-127527989-G-A	c.1378G>A	p.A460T	Missense	13/24	-	1
7-127528001-AG-CA	c.1390_1391delinsCA	p.R464Q	Missense	13/24	-	1
7-127528005-A-G	c.1394A>G	p.Y465C	Missense	13/24	-	1
7-127528007-C-T	c.1396C>T	p.R466W	Missense	13/24	-	1
7-127528008-G-T	c.1397G>T	p.R466L	Missense	13/24	-	2
7-127528010-C-G	c.1399C>G	p.Q467E	Missense	13/24	-	1
7-127528013-G-C	c.1402G>C	p.D468H	Missense	13/24	-	1
7-127528015-T-A	c.1404T>A	p.D468E	Missense	13/24	-	5
7-127528015-T-G	c.1404T>G	p.D468E	Missense	13/24	-	4
7-127528016-G-T	c.1405G>T	p.D469Y	Missense	13/24	-	1
7-127528019-G-A	c.1408G>A	p.D470N	Missense	13/24	-	1
7-127528040-G-A	c.1429G>A	p.D477N	Missense	13/24	-	1
7-127528043-G-C	c.1432G>C	p.E478Q	Missense	13/24	-	4
7-127528045-A-C	c.1434A>C	p.E478D	Missense	13/24	-	1
7-127528045-A-T	c.1434A>T	p.E478D	Missense	13/24	-	1
7-127528046-C-T	c.1435C>T	p.L479=	Synonymous	13/24	-	1
7-127528052-G-C	c.1441G>C	p.A481P	Missense	13/24	-	1
7-127528053-C-T	c.1442C>T	p.A481V	Missense	13/24	-	1
7-127528055-G-A	c.1444G>A	p.A482T	Missense	13/24	-	4
7-127528055-G-T	c.1444G>T	p.A482S	Missense	13/24	-	2
7-127528056-C-T	c.1445C>T	p.A482V	Missense	13/24	-	2
7-127528058-G-A	c.1447G>A	p.E483K	Missense	13/24	-	1
7-127528058-G-T	c.1447G>T	p.E483*	Nonsense	13/24	-	1
7-127528060-G-A	c.1449G>A	p.E483=	Synonymous	13/24	-	1
7-127528065-G-GAGCTATTAAGAATGGCAAAGGATTGCATAGCAAGAAGGAAGTGCCTATCCACCGTGTTGCAGATATATCT	c.1454_1454+1insAGCTATTAAGAATGGCAAAGGATTGCATAGCAAGAAGGAAGTGCCTATCCACCGTGTTGCAGATATATCT	p.G509Sfs*3	SpliceDonorInsertion	-	-	1
7-127530870-A-G	c.1454+2805A>G	-	IntronicSNV	-	13/23	11
7-127532595-CT-C	c.1454+4537del	-	IntronicDeletion	-	13/23	1
7-127533387-G-A	c.1454+5322G>A	-	IntronicSNV	-	13/23	1
7-127540377-G-A	c.1455-4423G>A	-	IntronicSNV	-	13/23	1
7-127540433-C-T	c.1455-4367C>T	-	IntronicSNV	-	13/23	1
7-127544633-C-T	c.1455-167C>T	-	IntronicSNV	-	13/23	2
7-127544802-C-T	c.1457C>T	p.A486V	Missense	14/24	-	1
7-127544817-A-C	c.1472A>C	p.K491T	Missense	14/24	-	1
7-127544817-A-G	c.1472A>G	p.K491R	Missense	14/24	-	1
7-127544825-C-T	c.1480C>T	p.H494Y	Missense	14/24	-	1
7-127544829-G-A	c.1484G>A	p.S495N	Missense	14/24	-	1
7-127544829-G-C	c.1484G>C	p.S495T	Missense	14/24	-	1
7-127544831-A-G	c.1486A>G	p.K496E	Missense	14/24	-	1
7-127544837-GA-CT	c.1492_1493delinsCT	p.E498L	Missense	14/24	-	1
7-127544839-A-C	c.1494A>C	p.E498D	Missense	14/24	-	1
7-127544839-A-G	c.1494A>G	p.E498=	Synonymous	14/24	-	2
7-127544839-A-T	c.1494A>T	p.E498D	Missense	14/24	-	1
7-127544843-C-T	c.1498C>T	p.P500S	Missense	14/24	-	1
7-127544850-A-T	c.1505A>T	p.H502L	Missense	14/24	-	1
7-127544853-G-A	c.1508G>A	p.R503H	Missense	14/24	-	1
7-127544858-G-C	c.1513G>C	p.A505P	Missense	14/24	-	1
7-127544861-G-A	c.1516G>A	p.D506N	Missense	14/24	-	1
7-127544867-TC-CT	c.1522_1523delinsCT	p.S508L	Missense	14/24	-	1
7-127544868-C-G	c.1523C>G	p.S508C	Missense	14/24	-	2
7-127544871-G-T	c.1526G>T	p.G509V	Missense	14/24	-	2
7-127544879-C-A	c.1527+7C>A	-	IntronicSNV	-	14/23	1
7-127544917-G-C	c.1527+45G>C	-	IntronicSNV	-	14/23	1
7-127546472-A-G	c.1527+1600A>G	-	IntronicSNV	-	14/23	1
7-127547423-A-T	c.1527+2551A>T	-	IntronicSNV	-	14/23	1
7-127548351-CA-C	c.1527+3489del	-	IntronicDeletion	-	14/23	1
7-127550364-G-A	c.1527+5492G>A	-	IntronicSNV	-	14/23	1
7-127555967-T-C	c.1527+11095T>C	-	IntronicSNV	-	14/23	1
7-127560541-G-A	c.1528-8700G>A	-	IntronicSNV	-	14/23	1
7-127562252-T-G	c.1528-6989T>G	-	IntronicSNV	-	14/23	1
7-127562736-T-C	c.1528-6505T>C	-	IntronicSNV	-	14/23	1
7-127566478-C-T	c.1528-2763C>T	-	IntronicSNV	-	14/23	1
7-127568983-C-T	c.1528-258C>T	-	IntronicSNV	-	14/23	1
7-127569192-G-A	c.1528-49G>A	-	IntronicSNV	-	14/23	1
7-127569245-CC-TG	c.1532_1533delinsTG	p.T511M	Missense	15/24	-	1
7-127569247-C-T	c.1534C>T	p.Q512*	Nonsense	15/24	-	1
7-127569249-A-G	c.1536A>G	p.Q512=	Synonymous	15/24	-	1
7-127569247-CA-C	c.1539del	p.A514Qfs*156	Frameshift	15/24	-	1
7-127569247-C-CA	c.1539dup	p.A514Sfs*15	Frameshift	15/24	-	1
7-127569252-A-G	c.1539A>G	p.K513=	Synonymous	15/24	-	1
7-127569253-AG-A	c.1540del	p.A514Qfs*156	Frameshift	15/24	-	2
7-127569257-AG-TC	c.1544_1545delinsTC	p.K515I	Missense	15/24	-	1
7-127569258-G-A	c.1545G>A	p.K515=	Synonymous	15/24	-	1
7-127569264-C-T	c.1551C>T	p.F517=	Synonymous	15/24	-	1
7-127569265-CTG-TTT	c.1552_1554delinsTTT	p.L518F	Missense	15/24	-	1
7-127569268-C-T	c.1555C>T	p.P519S	Missense	15/24	-	3
7-127569273-T-C	c.1560T>C	p.F520=	Synonymous	15/24	-	1
7-127569277-C-T	c.1564C>T	p.Q522*	Nonsense	15/24	-	1
7-127569278-A-C	c.1565A>C	p.Q522P	Missense	15/24	-	1
7-127569287-G-T	c.1574G>T	p.G525V	Missense	15/24	-	1
7-127569289-C-T	c.1576C>T	p.R526C	Missense	15/24	-	1
7-127569290-G-A	c.1577G>A	p.R526H	Missense	15/24	-	4
7-127569298-G-A	c.1585G>A	p.A529T	Missense	15/24	-	2
7-127569298-G-T	c.1585G>T	p.A529S	Missense	15/24	-	3
7-127569299-C-A	c.1586C>A	p.A529D	Missense	15/24	-	1
7-127569304-G-A	c.1591G>A	p.V531M	Missense	15/24	-	2
7-127569307-G-T	c.1594G>T	p.E532*	Nonsense	15/24	-	1
7-127569312-C-T	c.1599C>T	p.Y533=	Synonymous	15/24	-	5
7-127569313-G-C	c.1600G>C	p.V534L	Missense	15/24	-	1
7-127569322-G-A	c.1609G>A	p.G537S	Missense	15/24	-	1
7-127569323-GT-AG	c.1610_1611delinsAG	p.G537E	Missense	15/24	-	1
7-127569326-C-T	c.1613C>T	p.S538F	Missense	15/24	-	1
7-127569328-C-T	c.1615C>T	p.R539C	Missense	15/24	-	2
7-127569329-G-A	c.1616G>A	p.R539H	Missense	15/24	-	4
7-127569330-T-A	c.1617T>A	p.R539=	Synonymous	15/24	-	1
7-127569330-T-C	c.1617T>C	p.R539=	Synonymous	15/24	-	1
7-127569330-T-G	c.1617T>G	p.R539=	Synonymous	15/24	-	1
7-127569334-A-G	c.1621A>G	p.K541E	Missense	15/24	-	1
7-127569334-A-T	c.1621A>T	p.K541*	Nonsense	15/24	-	1
7-127569335-A-G	c.1622A>G	p.K541R	Missense	15/24	-	1
7-127569336-A-G	c.1623A>G	p.K541=	Synonymous	15/24	-	1
7-127569337-C-T	c.1624C>T	p.L542F	Missense	15/24	-	1
7-127569338-T-C	c.1625T>C	p.L542P	Missense	15/24	-	1
7-127569349-A-G	c.1636A>G	p.K546E	Missense	15/24	-	1
7-127569359-G-A	c.1646G>A	p.C549Y	Missense	15/24	-	1
7-127569360-C-T	c.1647C>T	p.C549=	Synonymous	15/24	-	1
7-127569364-A-G	c.1651A>G	p.I551V	Missense	15/24	-	3
7-127569368-C-T	c.1655C>T	p.T552I	Missense	15/24	-	1
7-127569369-C-A	c.1656C>A	p.T552=	Synonymous	15/24	-	1
7-127569369-C-G	c.1656C>G	p.T552=	Synonymous	15/24	-	1
7-127569369-C-T	c.1656C>T	p.T552=	Synonymous	15/24	-	1
7-127569372-C-A	c.1659C>A	p.F553L	Missense	15/24	-	1
7-127569372-C-T	c.1659C>T	p.F553=	Synonymous	15/24	-	1
7-127569377-T-A	c.1664T>A	p.L555H	Missense	15/24	-	1
7-127569379-G-A	c.1666G>A	p.A556T	Missense	15/24	-	3
7-127569390-T-A	c.1669+8T>A	-	IntronicSNV	-	15/23	1
7-127569465-G-C	c.1669+83G>C	-	IntronicSNV	-	15/23	2
7-127570651-C-T	c.1669+1269C>T	-	IntronicSNV	-	15/23	1
7-127570905-AT-A	c.1669+1531del	-	IntronicDeletion	-	15/23	1
7-127574877-G-A	c.1669+5495G>A	-	IntronicSNV	-	15/23	1
7-127577115-GAAT-G	c.1669+7740_1669+7742del	-	IntronicDeletion	-	15/23	1
7-127577759-G-T	c.1669+8377G>T	-	IntronicSNV	-	15/23	1
7-127578944-T-A	c.1669+9562T>A	-	IntronicSNV	-	15/23	1
7-127578943-AT-A	c.1669+9570del	-	IntronicDeletion	-	15/23	1
7-127581732-T-C	c.1669+12350T>C	-	IntronicSNV	-	15/23	1
7-127583820-G-A	c.1669+14438G>A	-	IntronicSNV	-	15/23	1
7-127584447-G-C	c.1669+15065G>C	-	IntronicSNV	-	15/23	1
7-127584457-A-G	c.1669+15075A>G	-	IntronicSNV	-	15/23	1
7-127588077-A-G	c.1669+18695A>G	-	IntronicSNV	-	15/23	1
7-127595077-G-C	c.1669+25695G>C	-	IntronicSNV	-	15/23	1
7-127595573-C-T	c.1669+26191C>T	-	IntronicSNV	-	15/23	1
7-127607474-A-G	c.1670-23526A>G	-	IntronicSNV	-	15/23	1
7-127607474-A-T	c.1670-23526A>T	-	IntronicSNV	-	15/23	1
7-127616804-T-G	c.1670-14196T>G	-	IntronicSNV	-	15/23	1
7-127631005-G-T	c.1675G>T	p.E559*	Nonsense	16/24	-	1
7-127631009-G-A	c.1679G>A	p.C560Y	Missense	16/24	-	2
7-127631012-C-T	c.1682C>T	p.P561L	Missense	16/24	-	2
7-127631015-G-A	c.1685G>A	p.R562K	Missense	16/24	-	2
7-127631020-G-T	c.1690G>T	p.A564S	Missense	16/24	-	1
7-127631021-C-T	c.1691C>T	p.A564V	Missense	16/24	-	1
7-127631024-G-A	c.1694G>A	p.R565Q	Missense	16/24	-	5
7-127631031-C-A	c.1701C>A	p.L567=	Synonymous	16/24	-	1
7-127631031-C-G	c.1701C>G	p.L567=	Synonymous	16/24	-	1
7-127631031-C-T	c.1701C>T	p.L567=	Synonymous	16/24	-	3
7-127631033-C-A	c.1703C>A	p.P568Q	Missense	16/24	-	1
7-127631033-CA-AT	c.1703_1704delinsAT	p.P568H	Missense	16/24	-	1
7-127631035-G-A	c.1705G>A	p.G569S	Missense	16/24	-	1
7-127631036-G-T	c.1706G>T	p.G569V	Missense	16/24	-	1
7-127631050-G-T	c.1720G>T	p.G574*	Nonsense	16/24	-	1
7-127631051-G-C	c.1721G>C	p.G574A	Missense	16/24	-	2
7-127631053-G-A	c.1723G>A	p.E575K	Missense	16/24	-	1
7-127631053-G-C	c.1723G>C	p.E575Q	Missense	16/24	-	1
7-127631055-G-C	c.1725G>C	p.E575D	Missense	16/24	-	1
7-127631055-G-T	c.1725G>T	p.E575D	Missense	16/24	-	1
7-127631056-C-T	c.1726C>T	p.P576S	Missense	16/24	-	2
7-127631062-A-G	c.1732A>G	p.S578G	Missense	16/24	-	1
7-127631063-G-A	c.1733G>A	p.S578N	Missense	16/24	-	1
7-127631064-C-T	c.1734C>T	p.S578=	Synonymous	16/24	-	1
7-127631070-A-C	c.1740A>C	p.E580D	Missense	16/24	-	1
7-127631074-A-T	c.1744A>T	p.T582S	Missense	16/24	-	1
7-127631077-C-T	c.1747C>T	p.L583F	Missense	16/24	-	1
7-127631080-T-C	c.1750T>C	p.F584L	Missense	16/24	-	1
7-127631082-C-A	c.1752C>A	p.F584L	Missense	16/24	-	1
7-127631082-C-G	c.1752C>G	p.F584L	Missense	16/24	-	1
7-127631084-C-G	c.1754C>G	p.T585S	Missense	16/24	-	1
7-127631085-C-A	c.1755C>A	p.T585=	Synonymous	16/24	-	1
7-127631085-C-G	c.1755C>G	p.T585=	Synonymous	16/24	-	1
7-127631085-C-T	c.1755C>T	p.T585=	Synonymous	16/24	-	1
7-127631096-T-C	c.1766T>C	p.V589A	Missense	16/24	-	1
7-127631104-C-T	c.1774C>T	p.R592*	Nonsense	16/24	-	1
7-127631105-G-A	c.1775G>A	p.R592Q	Missense	16/24	-	3
7-127631112-A-G	c.1779+3A>G	-	IntronicSNV	-	16/23	1
7-127631150-A-G	c.1779+41A>G	-	IntronicSNV	-	16/23	1
7-127631181-A-G	c.1779+72A>G	-	IntronicSNV	-	16/23	1
7-127631699-G-A	c.1779+590G>A	-	IntronicSNV	-	16/23	1
7-127632283-A-C	c.1779+1174A>C	-	IntronicSNV	-	16/23	1
7-127636958-C-T	c.1779+5849C>T	-	IntronicSNV	-	16/23	1
7-127637483-T-C	c.1779+6374T>C	-	IntronicSNV	-	16/23	1
7-127637715-T-G	c.1779+6606T>G	-	IntronicSNV	-	16/23	1
7-127637778-C-T	c.1779+6669C>T	-	IntronicSNV	-	16/23	1
7-127637816-A-G	c.1779+6707A>G	-	IntronicSNV	-	16/23	5
7-127637857-T-C	c.1779+6748T>C	-	IntronicSNV	-	16/23	2
7-127637977-T-G	c.1779+6868T>G	-	IntronicSNV	-	16/23	1
7-127638003-A-T	c.1779+6894A>T	-	IntronicSNV	-	16/23	1
7-127638004-G-T	c.1779+6895G>T	-	IntronicSNV	-	16/23	1
7-127638065-G-C	c.1779+6956G>C	-	IntronicSNV	-	16/23	1
7-127638703-G-A	c.1779+7594G>A	-	IntronicSNV	-	16/23	1
7-127638874-C-T	c.1779+7765C>T	-	IntronicSNV	-	16/23	2
7-127639414-T-C	c.1779+8305T>C	-	IntronicSNV	-	16/23	1
7-127649800-T-C	c.1779+18691T>C	-	IntronicSNV	-	16/23	1
7-127651833-AT-A	c.1779+20730del	-	IntronicDeletion	-	16/23	1
7-127656119-G-A	c.1779+25010G>A	-	IntronicSNV	-	16/23	1
7-127656134-C-A	c.1779+25025C>A	-	IntronicSNV	-	16/23	1
7-127658569-G-A	c.1779+27460G>A	-	IntronicSNV	-	16/23	1
7-127658569-G-C	c.1779+27460G>C	-	IntronicSNV	-	16/23	1
7-127658569-G-T	c.1779+27460G>T	-	IntronicSNV	-	16/23	1
7-127660351-A-G	c.1779+29242A>G	-	IntronicSNV	-	16/23	1
7-127660763-T-C	c.1779+29654T>C	-	IntronicSNV	-	16/23	2
7-127666873-C-T	c.1779+35764C>T	-	IntronicSNV	-	16/23	1
7-127667112-G-A	c.1779+36003G>A	-	IntronicSNV	-	16/23	1
7-127667516-G-A	c.1779+36407G>A	-	IntronicSNV	-	16/23	3
7-127668071-C-T	c.1779+36962C>T	-	IntronicSNV	-	16/23	1
7-127668876-G-C	c.1779+37767G>C	-	IntronicSNV	-	16/23	3
7-127669142-T-G	c.1779+38033T>G	-	IntronicSNV	-	16/23	1
7-127669857-A-G	c.1779+38748A>G	-	IntronicSNV	-	16/23	13
7-127669857-A-T	c.1779+38748A>T	-	IntronicSNV	-	16/23	13
7-127670548-A-G	c.1779+39439A>G	-	IntronicSNV	-	16/23	1
7-127670675-C-A	c.1779+39566C>A	-	IntronicSNV	-	16/23	1
7-127671511-G-A	c.1779+40402G>A	-	IntronicSNV	-	16/23	2
7-127672417-G-A	c.1779+41308G>A	-	IntronicSNV	-	16/23	1
7-127672658-C-A	c.1779+41549C>A	-	IntronicSNV	-	16/23	2
7-127672663-C-T	c.1779+41554C>T	-	IntronicSNV	-	16/23	1
7-127672696-C-A	c.1779+41587C>A	-	IntronicSNV	-	16/23	1
7-127672743-C-A	c.1779+41634C>A	-	IntronicSNV	-	16/23	1
7-127677336-C-T	c.1780-37218C>T	-	IntronicSNV	-	16/23	1
7-127681555-C-T	c.1780-32999C>T	-	IntronicSNV	-	16/23	1
7-127683638-T-A	c.1780-30916T>A	-	IntronicSNV	-	16/23	1
7-127683638-T-G	c.1780-30916T>G	-	IntronicSNV	-	16/23	1
7-127688150-A-G	c.1780-26404A>G	-	IntronicSNV	-	16/23	1
7-127688150-A-T	c.1780-26404A>T	-	IntronicSNV	-	16/23	1
7-127688625-G-A	c.1780-25929G>A	-	IntronicSNV	-	16/23	1
7-127695857-G-A	c.1780-18697G>A	-	IntronicSNV	-	16/23	1
7-127714418-G-A	c.1780-136G>A	-	IntronicSNV	-	16/23	1
7-127714491-G-A	c.1780-63G>A	-	IntronicSNV	-	16/23	4
7-127714552-AGGTG-A	c.1780_1783del	p.V594Rfs*75	SpliceAcceptorDeletion	17/24	-	1
7-127714561-T-A	c.1787T>A	p.V596E	Missense	17/24	-	1
7-127714571-G-T	c.1797G>T	p.E599D	Missense	17/24	-	1
7-127714578-G-A	c.1804G>A	p.D602N	Missense	17/24	-	1
7-127714580-C-CT	c.1806_1807insT	p.K603*	Nonsense	17/24	-	1
7-127714584-G-C	c.1810G>C	p.A604P	Missense	17/24	-	1
7-127714585-C-G	c.1811C>G	p.A604G	Missense	17/24	-	1
7-127714587-G-A	c.1813G>A	p.G605S	Missense	17/24	-	1
7-127714587-GG-AC	c.1813_1814delinsAC	p.G605T	Missense	17/24	-	1
7-127714588-G-C	c.1814G>C	p.G605A	Missense	17/24	-	1
7-127714588-G-T	c.1814G>T	p.G605V	Missense	17/24	-	2
7-127714589-C-A	c.1815C>A	p.G605=	Synonymous	17/24	-	1
7-127714589-C-G	c.1815C>G	p.G605=	Synonymous	17/24	-	1
7-127714589-C-T	c.1815C>T	p.G605=	Synonymous	17/24	-	1
7-127714593-T-G	c.1819T>G	p.F607V	Missense	17/24	-	1
7-127714598-C-A	c.1824C>A	p.I608=	Synonymous	17/24	-	1
7-127714598-C-T	c.1824C>T	p.I608=	Synonymous	17/24	-	1
7-127714599-G-A	c.1825G>A	p.G609S	Missense	17/24	-	3
7-127714603-G-T	c.1829G>T	p.W610L	Missense	17/24	-	2
7-127714604-G-A	c.1830G>A	p.W610*	Nonsense	17/24	-	1
7-127714607-G-C	c.1833G>C	p.L611=	Synonymous	17/24	-	1
7-127714607-GCACATCGACGGTGC-G	c.1836_1849del	p.H612Qfs*46	Frameshift	17/24	-	1
7-127714614-G-A	c.1840G>A	p.D614N	Missense	17/24	-	1
7-127714615-A-G	c.1841A>G	p.D614G	Missense	17/24	-	1
7-127714617-G-A	c.1843G>A	p.G615S	Missense	17/24	-	3
7-127714618-G-A	c.1844G>A	p.G615D	Missense	17/24	-	1
7-127714618-G-C	c.1844G>C	p.G615A	Missense	17/24	-	1
7-127714620-G-A	c.1846G>A	p.A616T	Missense	17/24	-	1
7-127714620-G-T	c.1846G>T	p.A616S	Missense	17/24	-	1
7-127714621-C-T	c.1847C>T	p.A616V	Missense	17/24	-	1
7-127714626-CTG-TTT	c.1852_1854delinsTTT	p.L618F	Missense	17/24	-	1
7-127714630-C-T	c.1856C>T	p.S619F	Missense	17/24	-	1
7-127714631-C-T	c.1857C>T	p.S619=	Synonymous	17/24	-	3
7-127714632-G-A	c.1858G>A	p.V620I	Missense	17/24	-	1
7-127714645-A-G	c.1871A>G	p.E624G	Missense	17/24	-	1
7-127714650-G-T	c.1876G>T	p.A626S	Missense	17/24	-	1
7-127714651-C-T	c.1877C>T	p.A626V	Missense	17/24	-	2
7-127714652-G-A	c.1878G>A	p.A626=	Synonymous	17/24	-	2
7-127714652-G-C	c.1878G>C	p.A626=	Synonymous	17/24	-	1
7-127714652-G-T	c.1878G>T	p.A626=	Synonymous	17/24	-	1
7-127714653-C-G	c.1879C>G	p.L627V	Missense	17/24	-	1
7-127714653-C-T	c.1879C>T	p.L627F	Missense	17/24	-	1
7-127714656-T-C	c.1882T>C	p.S628P	Missense	17/24	-	1
7-127714662-G-C	c.1888G>C	p.V630L	Missense	17/24	-	1
7-127714665-C-T	c.1891C>T	p.H631Y	Missense	17/24	-	1
7-127714676-C-A	c.1902C>A	p.A634=	Synonymous	17/24	-	2
7-127714676-C-G	c.1902C>G	p.A634=	Synonymous	17/24	-	2
7-127714676-C-T	c.1902C>T	p.A634=	Synonymous	17/24	-	6
7-127714677-G-A	c.1903G>A	p.E635K	Missense	17/24	-	2
7-127714677-G-C	c.1903G>C	p.E635Q	Missense	17/24	-	2
7-127714684-G-A	c.1910G>A	p.S637N	Missense	17/24	-	3
7-127714687-C-T	c.1913C>T	p.S638F	Missense	17/24	-	2
7-127714697-G-A	c.1923G>A	p.K641=	Synonymous	17/24	-	1
7-127714697-G-C	c.1923G>C	p.K641N	Missense	17/24	-	1
7-127714699-C-G	c.1925C>G	p.S642C	Missense	17/24	-	1
7-127714700-C-A	c.1926C>A	p.S642=	Synonymous	17/24	-	1
7-127714700-C-G	c.1926C>G	p.S642=	Synonymous	17/24	-	1
7-127714700-C-T	c.1926C>T	p.S642=	Synonymous	17/24	-	1
7-127714703-G-A	c.1929G>A	p.L643=	Synonymous	17/24	-	1
7-127714708-C-G	c.1934C>G	p.S645C	Missense	17/24	-	1
7-127714709-T-A	c.1935T>A	p.S645=	Synonymous	17/24	-	1
7-127714709-T-C	c.1935T>C	p.S645=	Synonymous	17/24	-	1
7-127714709-T-G	c.1935T>G	p.S645=	Synonymous	17/24	-	1
7-127714710-GC-TG	c.1936_1937delinsTG	p.A646C	Missense	17/24	-	1
7-127714711-C-T	c.1937C>T	p.A646V	Missense	17/24	-	3
7-127714712-C-A	c.1938C>A	p.A646=	Synonymous	17/24	-	1
7-127714712-C-G	c.1938C>G	p.A646=	Synonymous	17/24	-	1
7-127714712-C-T	c.1938C>T	p.A646=	Synonymous	17/24	-	3
7-127714713-G-A	c.1939G>A	p.E647K	Missense	17/24	-	4
7-127714716-G-A	c.1942G>A	p.E648K	Missense	17/24	-	2
7-127714730-G-A	c.1956G>A	p.Q652=	Synonymous	17/24	-	2
7-127714731-A-G	c.1957A>G	p.K653E	Missense	17/24	-	1
7-127714733-G-A	c.1959G>A	p.K653=	Synonymous	17/24	-	1
7-127714738-A-T	c.1964A>T	p.E655V	Missense	17/24	-	1
7-127716758-A-G	c.1968+2016A>G	-	IntronicSNV	-	17/23	1
7-127717654-C-G	c.1968+2912C>G	-	IntronicSNV	-	17/23	1
7-127719386-C-T	c.1969-2026C>T	-	IntronicSNV	-	17/23	1
7-127721299-C-A	c.1969-113C>A	-	IntronicSNV	-	17/23	1
7-127721299-C-T	c.1969-113C>T	-	IntronicSNV	-	17/23	1
7-127721300-G-A	c.1969-112G>A	-	IntronicSNV	-	17/23	1
7-127721412-G-C	c.1969G>C	p.V657L	Missense	18/24	-	2
7-127721415-T-A	c.1972T>A	p.W658R	Missense	18/24	-	1
7-127721415-T-C	c.1972T>C	p.W658R	Missense	18/24	-	1
7-127721416-G-C	c.1973G>C	p.W658S	Missense	18/24	-	2
7-127721416-G-T	c.1973G>T	p.W658L	Missense	18/24	-	1
7-127721422-A-G	c.1979A>G	p.H660R	Missense	18/24	-	1
7-127721425-A-G	c.1982A>G	p.Y661C	Missense	18/24	-	2
7-127721426-T-A	c.1983T>A	p.Y661*	Nonsense	18/24	-	1
7-127721426-T-G	c.1983T>G	p.Y661*	Nonsense	18/24	-	1
7-127721429-G-C	c.1986G>C	p.E662D	Missense	18/24	-	1
7-127721436-C-T	c.1993C>T	p.P665S	Missense	18/24	-	1
7-127721437-C-T	c.1994C>T	p.P665L	Missense	18/24	-	2
7-127721439-G-T	c.1996G>T	p.V666L	Missense	18/24	-	1
7-127721441-G-A	c.1998G>A	p.V666=	Synonymous	18/24	-	1
7-127721441-G-C	c.1998G>C	p.V666=	Synonymous	18/24	-	1
7-127721441-G-T	c.1998G>T	p.V666=	Synonymous	18/24	-	1
7-127721445-G-C	c.2002G>C	p.E668Q	Missense	18/24	-	1
7-127721448-G-C	c.2005G>C	p.V669L	Missense	18/24	-	1
7-127721448-G-T	c.2005G>T	p.V669L	Missense	18/24	-	1
7-127721452-T-G	c.2009T>G	p.M670R	Missense	18/24	-	1
7-127721463-G-A	c.2020G>A	p.E674K	Missense	18/24	-	1
7-127721468-G-C	c.2025G>C	p.E675D	Missense	18/24	-	1
7-127721475-C-T	c.2032C>T	p.R678*	Nonsense	18/24	-	4
7-127721476-G-A	c.2033G>A	p.R678Q	Missense	18/24	-	1
7-127721479-C-A	c.2036C>A	p.S679Y	Missense	18/24	-	1
7-127721482-C-T	c.2039C>T	p.A680V	Missense	18/24	-	1
7-127721488-A-G	c.2045A>G	p.Y682C	Missense	18/24	-	3
7-127721493-C-T	c.2050C>T	p.P684S	Missense	18/24	-	1
7-127721494-C-A	c.2051C>A	p.P684H	Missense	18/24	-	2
7-127721495-C-A	c.2052C>A	p.P684=	Synonymous	18/24	-	1
7-127721495-C-G	c.2052C>G	p.P684=	Synonymous	18/24	-	1
7-127721495-C-T	c.2052C>T	p.P684=	Synonymous	18/24	-	2
7-127721496-G-A	c.2053G>A	p.V685M	Missense	18/24	-	2
7-127721500-T-G	c.2057T>G	p.F686C	Missense	18/24	-	1
7-127721503-T-G	c.2060T>G	p.V687G	Missense	18/24	-	1
7-127721507-T-A	c.2064T>A	p.T688=	Synonymous	18/24	-	23
7-127721507-T-C	c.2064T>C	p.T688=	Synonymous	18/24	-	25
7-127721507-T-G	c.2064T>G	p.T688=	Synonymous	18/24	-	23
7-127721508-G-A	c.2065G>A	p.E689K	Missense	18/24	-	1
7-127721518-A-T	c.2075A>T	p.D692V	Missense	18/24	-	1
7-127721531-C-T	c.2088C>T	p.F696=	Synonymous	18/24	-	1
7-127721533-A-G	c.2090A>G	p.Y697C	Missense	18/24	-	1
7-127721534-C-A	c.2091C>A	p.Y697*	Nonsense	18/24	-	1
7-127721534-C-G	c.2091C>G	p.Y697*	Nonsense	18/24	-	1
7-127721535-G-A	c.2092G>A	p.V698M	Missense	18/24	-	5
7-127721538-C-T	c.2095C>T	p.Q699*	Nonsense	18/24	-	1
7-127721541-G-A	c.2098G>A	p.D700N	Missense	18/24	-	3
7-127721547-G-C	c.2104G>C	p.E702Q	Missense	18/24	-	1
7-127721547-G-T	c.2104G>T	p.E702*	Nonsense	18/24	-	1
7-127721551-C-T	c.2108C>T	p.T703I	Missense	18/24	-	1
7-127721577-G-A	c.2110+24G>A	-	IntronicSNV	-	18/23	1
7-127721577-G-T	c.2110+24G>T	-	IntronicSNV	-	18/23	1
7-127721865-T-G	c.2110+312T>G	-	IntronicSNV	-	18/23	1
7-127721958-T-C	c.2110+405T>C	-	IntronicSNV	-	18/23	1
7-127721986-G-A	c.2110+433G>A	-	IntronicSNV	-	18/23	1
7-127721999-C-G	c.2110+446C>G	-	IntronicSNV	-	18/23	1
7-127722011-C-T	c.2110+458C>T	-	IntronicSNV	-	18/23	1
7-127724774-A-C	c.2111-2A>C	-	IntronicSNV	-	18/23	1
7-127724774-A-T	c.2111-2A>T	-	IntronicSNV	-	18/23	1
7-127724776-G-A	c.2111G>A	p.G704D	Missense	19/24	-	3
7-127724776-G-T	c.2111G>T	p.G704V	Missense	19/24	-	1
7-127724786-G-A	c.2121G>A	p.L707=	Synonymous	19/24	-	1
7-127724789-G-C	c.2124G>C	p.E708D	Missense	19/24	-	1
7-127724789-G-T	c.2124G>T	p.E708D	Missense	19/24	-	1
7-127724793-C-T	c.2128C>T	p.L710=	Synonymous	19/24	-	1
7-127724799-G-C	c.2134G>C	p.E712Q	Missense	19/24	-	1
7-127724808-C-T	c.2143C>T	p.R715C	Missense	19/24	-	4
7-127724809-G-C	c.2144G>C	p.R715P	Missense	19/24	-	1
7-127724812-A-C	c.2147A>C	p.N716T	Missense	19/24	-	1
7-127724814-G-T	c.2149G>T	p.D717Y	Missense	19/24	-	4
7-127724815-A-G	c.2150A>G	p.D717G	Missense	19/24	-	1
7-127724815-A-T	c.2150A>T	p.D717V	Missense	19/24	-	1
7-127724817-A-G	c.2152A>G	p.I718V	Missense	19/24	-	1
7-127724820-G-T	c.2155G>T	p.A719S	Missense	19/24	-	6
7-127724823-A-T	c.2158A>T	p.S720C	Missense	19/24	-	1
7-127724826-CAC-TAA	c.2161_2163delinsTAA	p.H721*	Nonsense	19/24	-	1
7-127724829-C-G	c.2164C>G	p.P722A	Missense	19/24	-	1
7-127724827-AC-A	c.2168del	p.P723Lfs*2	Frameshift	19/24	-	5
7-127724837-A-T	c.2172A>T	p.V724=	Synonymous	19/24	-	1
7-127724841-G-A	c.2176G>A	p.G726S	Missense	19/24	-	1
7-127724843-C-T	c.2178C>T	p.G726=	Synonymous	19/24	-	2
7-127724845-C-T	c.2180C>T	p.S727F	Missense	19/24	-	3
7-127724852-C-T	c.2187C>T	p.A729=	Synonymous	19/24	-	1
7-127724850-G-GC	c.2191dup	p.R731Pfs*35	Frameshift	19/24	-	1
7-127724856-CGC-TGA	c.2191_2193delinsTGA	p.R731*	Nonsense	19/24	-	1
7-127724857-G-A	c.2192G>A	p.R731H	Missense	19/24	-	7
7-127724857-G-T	c.2192G>T	p.R731L	Missense	19/24	-	1
7-127724858-C-A	c.2193C>A	p.R731=	Synonymous	19/24	-	1
7-127724865-G-C	c.2200G>C	p.E734Q	Missense	19/24	-	1
7-127724876-T-G	c.2211T>G	p.I737M	Missense	19/24	-	1
7-127724884-T-G	c.2219T>G	p.F740C	Missense	19/24	-	1
7-127724884-TT-GG	c.2219_2220delinsGG	p.F740W	Missense	19/24	-	1
7-127724886-G-A	c.2221G>A	p.V741I	Missense	19/24	-	1
7-127724886-GTA-ATG	c.2221_2223delinsATG	p.V741M	Missense	19/24	-	1
7-127724889-G-T	c.2224G>T	p.D742Y	Missense	19/24	-	1
7-127725690-G-A	c.2235-73G>A	-	IntronicSNV	-	19/23	1
7-127725690-G-C	c.2235-73G>C	-	IntronicSNV	-	19/23	1
7-127725711-G-A	c.2235-52G>A	-	IntronicSNV	-	19/23	3
7-127725765-A-G	c.2237A>G	p.Y746C	Missense	20/24	-	1
7-127725767-C-T	c.2239C>T	p.R747C	Missense	20/24	-	4
7-127725768-G-A	c.2240G>A	p.R747H	Missense	20/24	-	3
7-127725769-T-G	c.2241T>G	p.R747=	Synonymous	20/24	-	1
7-127725773-C-T	c.2245C>T	p.R749*	Nonsense	20/24	-	1
7-127725781-G-A	c.2253G>A	p.E751=	Synonymous	20/24	-	1
7-127725784-A-G	c.2256A>G	p.K752=	Synonymous	20/24	-	1
7-127725788-G-C	c.2260G>C	p.E754Q	Missense	20/24	-	1
7-127725790-G-A	c.2262G>A	p.E754=	Synonymous	20/24	-	1
7-127725796-T-A	c.2268T>A	p.P756=	Synonymous	20/24	-	1
7-127725796-T-C	c.2268T>C	p.P756=	Synonymous	20/24	-	1
7-127725796-T-G	c.2268T>G	p.P756=	Synonymous	20/24	-	2
7-127725797-G-T	c.2269G>T	p.A757S	Missense	20/24	-	1
7-127725807-A-G	c.2279A>G	p.H760R	Missense	20/24	-	1
7-127725811-C-A	c.2283C>A	p.V761=	Synonymous	20/24	-	1
7-127725821-G-C	c.2293G>C	p.D765H	Missense	20/24	-	1
7-127725826-C-T	c.2298C>T	p.Y766=	Synonymous	20/24	-	3
7-127725830-AAC-CAA	c.2302_2304delinsCAA	p.N768Q	Missense	20/24	-	1
7-127725831-AC-GG	c.2303_2304delinsGG	p.N768R	Missense	20/24	-	1
7-127725832-C-T	c.2304C>T	p.N768=	Synonymous	20/24	-	1
7-127725833-G-A	c.2304+1G>A	-	IntronicSNV	-	20/23	2
7-127726990-AGA-TGG	c.2305_2307delinsTGG	p.R769W	Missense	21/24	-	1
7-127726993-G-A	c.2308G>A	p.E770K	Missense	21/24	-	1
7-127726996-G-A	c.2311G>A	p.V771I	Missense	21/24	-	2
7-127726998-C-T	c.2313C>T	p.V771=	Synonymous	21/24	-	1
7-127726999-CTG-ATC	c.2314_2316delinsATC	p.L772I	Missense	21/24	-	1
7-127727003-C-T	c.2318C>T	p.P773L	Missense	21/24	-	1
7-127727004-A-C	c.2319A>C	p.P773=	Synonymous	21/24	-	1
7-127727004-A-G	c.2319A>G	p.P773=	Synonymous	21/24	-	1
7-127727004-A-T	c.2319A>T	p.P773=	Synonymous	21/24	-	1
7-127727012-G-A	c.2327G>A	p.R776H	Missense	21/24	-	4
7-127727014-C-A	c.2329C>A	p.L777M	Missense	21/24	-	1
7-127727017-G-T	c.2332G>T	p.G778C	Missense	21/24	-	1
7-127727026-T-G	c.2341T>G	p.S781A	Missense	21/24	-	1
7-127727028-A-C	c.2343A>C	p.S781=	Synonymous	21/24	-	1
7-127727028-A-G	c.2343A>G	p.S781=	Synonymous	21/24	-	1
7-127727028-A-T	c.2343A>T	p.S781=	Synonymous	21/24	-	1
7-127727030-C-G	c.2345C>G	p.P782R	Missense	21/24	-	1
7-127727045-G-A	c.2360G>A	p.R787Q	Missense	21/24	-	1
7-127727047-GTG-ATC	c.2362_2364delinsATC	p.V788I	Missense	21/24	-	1
7-127727051-T-C	c.2366T>C	p.L789P	Missense	21/24	-	1
7-127727054-C-T	c.2369C>T	p.P790L	Missense	21/24	-	2
7-127727058-T-A	c.2373T>A	p.A791=	Synonymous	21/24	-	1
7-127727058-T-C	c.2373T>C	p.A791=	Synonymous	21/24	-	1
7-127727058-T-G	c.2373T>G	p.A791=	Synonymous	21/24	-	1
7-127727065-A-G	c.2380A>G	p.T794A	Missense	21/24	-	1
7-127727067-G-A	c.2382G>A	p.T794=	Synonymous	21/24	-	1
7-127727067-G-C	c.2382G>C	p.T794=	Synonymous	21/24	-	1
7-127727068-G-C	c.2383G>C	p.E795Q	Missense	21/24	-	1
7-127727076-C-A	c.2391C>A	p.A797=	Synonymous	21/24	-	1
7-127727079-C-T	c.2394C>T	p.F798=	Synonymous	21/24	-	2
7-127727080-G-A	c.2395G>A	p.A799T	Missense	21/24	-	4
7-127727083-T-C	c.2398T>C	p.F800L	Missense	21/24	-	1
7-127727085-C-G	c.2400C>G	p.F800L	Missense	21/24	-	1
7-127727085-C-A	c.2400C>A	p.F800L	Missense	21/24	-	2
7-127727085-C-T	c.2400C>T	p.F800=	Synonymous	21/24	-	2
7-127727088-C-T	c.2403C>T	p.I801=	Synonymous	21/24	-	2
7-127727089-C-G	c.2404C>G	p.Q802E	Missense	21/24	-	2
7-127727089-C-T	c.2404C>T	p.Q802*	Nonsense	21/24	-	2
7-127727090-A-G	c.2405A>G	p.Q802R	Missense	21/24	-	1
7-127727092-G-A	c.2407G>A	p.V803M	Missense	21/24	-	1
7-127727092-GTG-ATC	c.2407_2409delinsATC	p.V803I	Missense	21/24	-	1
7-127727096-C-T	c.2411C>T	p.P804L	Missense	21/24	-	1
7-127727099-A-G	c.2414A>G	p.Q805R	Missense	21/24	-	1
7-127727101-G-T	c.2416G>T	p.D806Y	Missense	21/24	-	2
7-127727113-G-A	c.2418+10G>A	-	IntronicSNV	-	21/23	1
7-127727115-G-A	c.2418+12G>A	-	IntronicSNV	-	21/23	1
7-127727157-G-A	c.2418+54G>A	-	IntronicSNV	-	21/23	1
7-127729541-G-T	c.2419G>T	p.D807Y	Missense	22/24	-	2
7-127729544-G-T	c.2422G>T	p.D808Y	Missense	22/24	-	1
7-127729548-C-T	c.2426C>T	p.A809V	Missense	22/24	-	1
7-127729549-C-T	c.2427C>T	p.A809=	Synonymous	22/24	-	3
7-127729550-C-T	c.2428C>T	p.R810C	Missense	22/24	-	2
7-127729551-G-A	c.2429G>A	p.R810H	Missense	22/24	-	2
7-127729555-G-T	c.2433G>T	p.T811=	Synonymous	22/24	-	1
7-127729559-G-A	c.2437G>A	p.A813T	Missense	22/24	-	1
7-127729562-G-A	c.2440G>A	p.V814M	Missense	22/24	-	1
7-127729568-AG-TA	c.2446_2447delinsTA	p.S816Y	Missense	22/24	-	1
7-127729570-C-T	c.2448C>T	p.S816=	Synonymous	22/24	-	2
7-127729571-G-A	c.2449G>A	p.V817I	Missense	22/24	-	3
7-127729577-C-T	c.2455C>T	p.R819W	Missense	22/24	-	4
7-127729578-G-A	c.2456G>A	p.R819Q	Missense	22/24	-	1
7-127729578-G-T	c.2456G>T	p.R819L	Missense	22/24	-	1
7-127729580-G-A	c.2458G>A	p.D820N	Missense	22/24	-	4
7-127729581-A-G	c.2459A>G	p.D820G	Missense	22/24	-	2
7-127729586-C-T	c.2464C>T	p.Q822*	Nonsense	22/24	-	4
7-127729593-C-T	c.2471C>T	p.T824I	Missense	22/24	-	1
7-127729595-C-G	c.2473C>G	p.Q825E	Missense	22/24	-	3
7-127729599-G-A	c.2477G>A	p.C826Y	Missense	22/24	-	2
7-127729604-C-T	c.2482C>T	p.L828F	Missense	22/24	-	1
7-127729606-C-A	c.2484C>A	p.L828=	Synonymous	22/24	-	1
7-127729606-C-G	c.2484C>G	p.L828=	Synonymous	22/24	-	1
7-127729606-C-T	c.2484C>T	p.L828=	Synonymous	22/24	-	1
7-127729608-A-C	c.2486A>C	p.N829T	Missense	22/24	-	1
7-127729608-A-G	c.2486A>G	p.N829S	Missense	22/24	-	1
7-127729609-C-T	c.2487C>T	p.N829=	Synonymous	22/24	-	2
7-127729610-G-A	c.2488G>A	p.V830M	Missense	22/24	-	1
7-127729610-G-C	c.2488G>C	p.V830L	Missense	22/24	-	1
7-127729610-G-T	c.2488G>T	p.V830L	Missense	22/24	-	3
7-127729612-G-T	c.2490G>T	p.V830=	Synonymous	22/24	-	2
7-127729627-C-T	c.2505C>T	p.A835=	Synonymous	22/24	-	1
7-127729628-G-A	c.2506G>A	p.G836S	Missense	22/24	-	5
7-127729631-T-A	c.2509T>A	p.C837S	Missense	22/24	-	1
7-127729632-G-C	c.2510G>C	p.C837S	Missense	22/24	-	1
7-127729634-C-T	c.2512C>T	p.P838S	Missense	22/24	-	1
7-127729632-GC-G	c.2515del	p.H839Mfs*18	Frameshift	22/24	-	1
7-127729645-C-T	c.2523C>T	p.T841=	Synonymous	22/24	-	3
7-127729646-C-T	c.2524C>T	p.L842=	Synonymous	22/24	-	1
7-127729651-G-T	c.2529G>T	p.Q843H	Missense	22/24	-	1
7-127729651-GT-G	c.2532del	p.F844Lfs*13	Frameshift	22/24	-	1
7-127729656-CA-AC	c.2534_2535delinsAC	p.A845D	Missense	22/24	-	1
7-127729658-G-A	c.2536G>A	p.D846N	Missense	22/24	-	3
7-127729658-G-C	c.2536G>C	p.D846H	Missense	22/24	-	1
7-127729660-T-G	c.2538T>G	p.D846E	Missense	22/24	-	1
7-127729663-C-T	c.2541C>T	p.S847=	Synonymous	22/24	-	1
7-127729669-C-A	c.2547C>A	p.G849=	Synonymous	22/24	-	1
7-127729669-C-G	c.2547C>G	p.G849=	Synonymous	22/24	-	1
7-127729669-C-T	c.2547C>T	p.G849=	Synonymous	22/24	-	2
7-127729676-G-T	c.2554G>T	p.G852W	Missense	22/24	-	4
7-127729679-C-G	c.2557C>G	p.L853V	Missense	22/24	-	1
7-127729687-G-A	c.2565G>A	p.L855=	Synonymous	22/24	-	1
7-127729687-G-T	c.2565G>T	p.L855F	Missense	22/24	-	1
7-127729688-G-A	c.2566G>A	p.V856M	Missense	22/24	-	1
7-127729694-G-A	c.2572G>A	p.E858K	Missense	22/24	-	2
7-127729698-G-A	c.2576G>A	p.G859E	Missense	22/24	-	3
7-127729706-A-G	c.2584A>G	p.M862V	Missense	22/24	-	1
7-127729709-G-A	c.2587G>A	p.V863M	Missense	22/24	-	2
7-127729712-G-T	c.2590G>T	p.E864*	Nonsense	22/24	-	1
7-127729721-A-G	c.2599A>G	p.K867E	Missense	22/24	-	1
7-127729724-G-A	c.2602G>A	p.E868K	Missense	22/24	-	1
7-127729724-G-C	c.2602G>C	p.E868Q	Missense	22/24	-	1
7-127729726-G-C	c.2604G>C	p.E868D	Missense	22/24	-	1
7-127729726-G-T	c.2604G>T	p.E868D	Missense	22/24	-	1
7-127729732-G-C	c.2610G>C	p.Q870H	Missense	22/24	-	1
7-127729732-G-T	c.2610G>T	p.Q870H	Missense	22/24	-	1
7-127729779-C-G	c.2622+35C>G	-	IntronicSNV	-	22/23	1
7-127729859-G-T	c.2622+115G>T	-	IntronicSNV	-	22/23	1
7-127729887-T-A	c.2622+143T>A	-	IntronicSNV	-	22/23	2
7-127729887-T-C	c.2622+143T>C	-	IntronicSNV	-	22/23	3
7-127731618-T-C	c.2623-271T>C	-	IntronicSNV	-	22/23	1
7-127731889-A-T	c.2623A>T	p.I875F	Missense	23/24	-	1
7-127731895-G-A	c.2629G>A	p.E877K	Missense	23/24	-	1
7-127731898-T-C	c.2632T>C	p.Y878H	Missense	23/24	-	2
7-127731900-C-T	c.2634C>T	p.Y878=	Synonymous	23/24	-	2
7-127731902-T-C	c.2636T>C	p.L879P	Missense	23/24	-	1
7-127731901-C-T	c.2635C>T	p.L879=	Synonymous	23/24	-	1
7-127731903-G-A	c.2637G>A	p.L879=	Synonymous	23/24	-	1
7-127731903-G-C	c.2637G>C	p.L879=	Synonymous	23/24	-	1
7-127731903-G-T	c.2637G>T	p.L879=	Synonymous	23/24	-	1
7-127731915-G-T	c.2649G>T	p.E883D	Missense	23/24	-	1
7-127731920-C-A	c.2654C>A	p.A885D	Missense	23/24	-	2
7-127731923-A-G	c.2657A>G	p.K886R	Missense	23/24	-	1
7-127731926-G-T	c.2660G>T	p.S887I	Missense	23/24	-	1
7-127731927-C-T	c.2661C>T	p.S887=	Synonymous	23/24	-	6
7-127731928-G-T	c.2662G>T	p.A888S	Missense	23/24	-	3
7-127731929-C-T	c.2663C>T	p.A888V	Missense	23/24	-	3
7-127731933-G-C	c.2667G>C	p.R889S	Missense	23/24	-	2
7-127732044-G-GC	c.2668dup	p.L890Pfs*12	SpliceAcceptorInsertion	24/24	-	1
7-127732045-C-CT	c.2669dup	p.N891Efs*11	SpliceAcceptorInsertion	24/24	-	1
7-127732055-G-A	c.2678G>A	p.W893*	Nonsense	24/24	-	2
7-127732056-G-A	c.2679G>A	p.W893*	Nonsense	24/24	-	2
7-127732057-C-T	c.2680C>T	p.R894C	Missense	24/24	-	5
7-127732058-G-A	c.2681G>A	p.R894H	Missense	24/24	-	3
7-127732059-C-A	c.2682C>A	p.R894=	Synonymous	24/24	-	1
7-127732072-C-A	c.2695C>A	p.R899=	Synonymous	24/24	-	1
7-127732072-C-T	c.2695C>T	p.R899*	Nonsense	24/24	-	2
7-127732074-A-C	c.2697A>C	p.R899=	Synonymous	24/24	-	1
7-127732074-A-G	c.2697A>G	p.R899=	Synonymous	24/24	-	1
7-127732073-G-A	c.2696G>A	p.R899Q	Missense	24/24	-	3
7-127732074-A-T	c.2697A>T	p.R899=	Synonymous	24/24	-	2
7-127732075-G-T	c.2698G>T	p.A900S	Missense	24/24	-	1
7-127732085-C-T	c.2708C>T	p.A903V	Missense	24/24	-	1
7-127732089-C-T	c.2712C>T	p.D904=	Synonymous	24/24	-	1
7-127732090-G-A	c.2713G>A	p.E905K	Missense	24/24	-	2
7-127732096-GG-AC	c.2719_2720delinsAC	p.G907T	Missense	24/24	-	1
7-127732097-G-C	c.2720G>C	p.G907A	Missense	24/24	-	1
7-127732104-C-T	c.2727C>T	p.S909=	Synonymous	24/24	-	1
7-127732153-C-G	c.*43C>G	-	3-UTRSNV	24/24	-	3
7-127732380-T-A	c.*270T>A	-	3-UTRSNV	24/24	-	2