EPHB2

EPHB2 EPH receptor B2

Annotation transcript: NM_017449.5

1537 unique variant annotations were identified in 569 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
1-23037481-T-C c.6T>C p.A2= Synonymous 1/16 - 1
1-23037482-C-T c.7C>T p.L3= Synonymous 1/16 - 1
1-23037484-G-A c.9G>A p.L3= Synonymous 1/16 - 1
1-23037484-G-C c.9G>C p.L3= Synonymous 1/16 - 1
1-23037484-G-T c.9G>T p.L3= Synonymous 1/16 - 1
1-23037485-C-T c.10C>T p.R4W Missense 1/16 - 1
1-23037486-G-A c.11G>A p.R4Q Missense 1/16 - 2
1-23037489-G-A c.14G>A p.R5K Missense 1/16 - 1
1-23037503-C-T c.28C>T p.L10= Synonymous 1/16 - 1
1-23037503-CTG-TTT c.28_30delinsTTT p.L10F Missense 1/16 - 1
1-23037515-C-T c.40C>T p.P14S Missense 1/16 - 1
1-23037524-GC-CA c.49_50delinsCA p.A17H Missense 1/16 - 1
1-23037524-GCC-CAA c.49_51delinsCAA p.A17Q Missense 1/16 - 2
1-23037524-GCC-TAA c.49_51delinsTAA p.A17* Nonsense 1/16 - 2
1-23037527-GCC-TAA c.52_54delinsTAA p.A18* Nonsense 1/16 - 1
1-23037527-GC-TT c.52_53delinsTT p.A18F Missense 1/16 - 1
1-23037528-C-G c.53C>G p.A18G Missense 1/16 - 1
1-23037533-G-C c.58G>C p.E20Q Missense 1/16 - 1
1-23037537-G-A c.61+1G>A - IntronicSNV - 1/15 1
1-23037537-G-T c.61+1G>T - IntronicSNV - 1/15 1
1-23037647-C-T c.61+111C>T - IntronicSNV - 1/15 1
1-23037791-C-G c.61+255C>G - IntronicSNV - 1/15 1
1-23037794-C-T c.61+258C>T - IntronicSNV - 1/15 1
1-23039243-C-T c.61+1707C>T - IntronicSNV - 1/15 1
1-23043910-G-A c.61+6374G>A - IntronicSNV - 1/15 1
1-23045943-A-G c.61+8407A>G - IntronicSNV - 1/15 6
1-23045962-A-G c.61+8426A>G - IntronicSNV - 1/15 1
1-23046043-T-C c.61+8507T>C - IntronicSNV - 1/15 1
1-23046058-G-A c.61+8522G>A - IntronicSNV - 1/15 1
1-23046089-T-A c.61+8553T>A - IntronicSNV - 1/15 1
1-23046222-A-G c.61+8686A>G - IntronicSNV - 1/15 1
1-23050262-T-G c.61+12726T>G - IntronicSNV - 1/15 1
1-23050352-G-A c.61+12816G>A - IntronicSNV - 1/15 1
1-23052402-C-A c.61+14866C>A - IntronicSNV - 1/15 1
1-23053675-G-A c.61+16139G>A - IntronicSNV - 1/15 1
1-23058070-T-C c.61+20534T>C - IntronicSNV - 1/15 1
1-23061551-G-A c.61+24015G>A - IntronicSNV - 1/15 1
1-23063255-CT-C c.61+25726del - IntronicDeletion - 1/15 1
1-23063930-T-C c.61+26394T>C - IntronicSNV - 1/15 2
1-23066512-T-C c.61+28976T>C - IntronicSNV - 1/15 1
1-23067044-G-A c.61+29508G>A - IntronicSNV - 1/15 2
1-23070368-C-G c.61+32832C>G - IntronicSNV - 1/15 1
1-23081334-G-GGAGGTGAGGGGCAGGGGAGGT c.62-26570_62-26569insGCAGGGGAGGTGAGGTGAGGG - IntronicInsertion - 1/15 1
1-23081438-G-C c.62-26476G>C - IntronicSNV - 1/15 1
1-23081444-C-G c.62-26470C>G - IntronicSNV - 1/15 1
1-23081444-C-T c.62-26470C>T - IntronicSNV - 1/15 1
1-23081927-T-A c.62-25987T>A - IntronicSNV - 1/15 1
1-23081927-T-G c.62-25987T>G - IntronicSNV - 1/15 1
1-23086441-G-A c.62-21473G>A - IntronicSNV - 1/15 1
1-23086667-A-G c.62-21247A>G - IntronicSNV - 1/15 1
1-23091273-T-A c.62-16641T>A - IntronicSNV - 1/15 1
1-23091273-T-C c.62-16641T>C - IntronicSNV - 1/15 1
1-23091596-A-C c.62-16318A>C - IntronicSNV - 1/15 1
1-23091596-A-G c.62-16318A>G - IntronicSNV - 1/15 1
1-23091596-A-T c.62-16318A>T - IntronicSNV - 1/15 1
1-23094268-C-T c.62-13646C>T - IntronicSNV - 1/15 2
1-23094421-C-T c.62-13493C>T - IntronicSNV - 1/15 2
1-23094454-G-A c.62-13460G>A - IntronicSNV - 1/15 3
1-23101688-T-A c.62-6226T>A - IntronicSNV - 1/15 8
1-23101688-T-G c.62-6226T>G - IntronicSNV - 1/15 8
1-23101699-G-A c.62-6215G>A - IntronicSNV - 1/15 1
1-23101729-C-A c.62-6185C>A - IntronicSNV - 1/15 1
1-23101737-G-C c.62-6177G>C - IntronicSNV - 1/15 1
1-23101747-C-T c.62-6167C>T - IntronicSNV - 1/15 2
1-23101814-G-A c.62-6100G>A - IntronicSNV - 1/15 1
1-23101836-C-A c.62-6078C>A - IntronicSNV - 1/15 1
1-23102006-A-G c.62-5908A>G - IntronicSNV - 1/15 1
1-23107578-G-C c.62-336G>C - IntronicSNV - 1/15 1
1-23107579-C-T c.62-335C>T - IntronicSNV - 1/15 1
1-23107812-A-T c.62-102A>T - IntronicSNV - 1/15 1
1-23107827-A-G c.62-87A>G - IntronicSNV - 1/15 2
1-23107832-A-G c.62-82A>G - IntronicSNV - 1/15 2
1-23107914-A-T c.62A>T p.E21V Missense 2/16 - 1
1-23107915-A-T c.63A>T p.E21D Missense 2/16 - 1
1-23107917-C-T c.65C>T p.T22M Missense 2/16 - 3
1-23107919-CT-GC c.67_68delinsGC p.L23A Missense 2/16 - 1
1-23107919-C-T c.67C>T p.L23= Synonymous 2/16 - 1
1-23107921-A-C c.69A>C p.L23= Synonymous 2/16 - 1
1-23107921-A-G c.69A>G p.L23= Synonymous 2/16 - 2
1-23107921-A-T c.69A>T p.L23= Synonymous 2/16 - 1
1-23107922-A-C c.70A>C p.M24L Missense 2/16 - 1
1-23107922-A-G c.70A>G p.M24V Missense 2/16 - 1
1-23107924-G-A c.72G>A p.M24I Missense 2/16 - 1
1-23107924-G-C c.72G>C p.M24I Missense 2/16 - 1
1-23107924-G-T c.72G>T p.M24I Missense 2/16 - 1
1-23107925-G-A c.73G>A p.D25N Missense 2/16 - 3
1-23107929-C-T c.77C>T p.S26F Missense 2/16 - 2
1-23107933-T-A c.81T>A p.T27= Synonymous 2/16 - 1
1-23107933-T-C c.81T>C p.T27= Synonymous 2/16 - 1
1-23107933-T-G c.81T>G p.T27= Synonymous 2/16 - 1
1-23107936-A-C c.84A>C p.T28= Synonymous 2/16 - 1
1-23107936-A-G c.84A>G p.T28= Synonymous 2/16 - 1
1-23107936-A-T c.84A>T p.T28= Synonymous 2/16 - 1
1-23107937-G-A c.85G>A p.A29T Missense 2/16 - 1
1-23107937-GC-AT c.85_86delinsAT p.A29M Missense 2/16 - 2
1-23107937-GC-CT c.85_86delinsCT p.A29L Missense 2/16 - 2
1-23107937-GCG-AAC c.85_87delinsAAC p.A29N Missense 2/16 - 2
1-23107937-GCG-ATC c.85_87delinsATC p.A29I Missense 2/16 - 1
1-23107938-C-A c.86C>A p.A29E Missense 2/16 - 3
1-23107938-C-G c.86C>G p.A29G Missense 2/16 - 2
1-23107938-CG-AC c.86_87delinsAC p.A29D Missense 2/16 - 2
1-23107938-C-T c.86C>T p.A29V Missense 2/16 - 4
1-23107940-A-T c.88A>T p.T30S Missense 2/16 - 1
1-23107941-C-G c.89C>G p.T30S Missense 2/16 - 2
1-23107942-T-A c.90T>A p.T30= Synonymous 2/16 - 1
1-23107942-T-C c.90T>C p.T30= Synonymous 2/16 - 1
1-23107942-T-G c.90T>G p.T30= Synonymous 2/16 - 1
1-23107943-G-A c.91G>A p.A31T Missense 2/16 - 4
1-23107943-G-C c.91G>C p.A31P Missense 2/16 - 1
1-23107945-T-A c.93T>A p.A31= Synonymous 2/16 - 1
1-23107945-T-C c.93T>C p.A31= Synonymous 2/16 - 1
1-23107945-T-G c.93T>G p.A31= Synonymous 2/16 - 1
1-23107946-G-A c.94G>A p.E32K Missense 2/16 - 2
1-23107949-CTG-TTT c.97_99delinsTTT p.L33F Missense 2/16 - 1
1-23107950-T-A c.98T>A p.L33Q Missense 2/16 - 2
1-23107956-G-A c.104G>A p.W35* Nonsense 2/16 - 1
1-23107965-A-G c.113A>G p.H38R Missense 2/16 - 1
1-23107967-C-T c.115C>T p.P39S Missense 2/16 - 3
1-23107970-C-T c.118C>T p.P40S Missense 2/16 - 4
1-23107973-T-C c.121T>C p.S41P Missense 2/16 - 2
1-23107993-C-T c.126+15C>T - IntronicSNV - 2/15 1
1-23108089-A-G c.126+111A>G - IntronicSNV - 2/15 1
1-23108089-A-T c.126+111A>T - IntronicSNV - 2/15 1
1-23108109-C-G c.126+131C>G - IntronicSNV - 2/15 1
1-23108200-C-T c.126+222C>T - IntronicSNV - 2/15 1
1-23110867-C-A c.127-18C>A - IntronicSNV - 2/15 2
1-23110867-C-T c.127-18C>T - IntronicSNV - 2/15 2
1-23110868-G-A c.127-17G>A - IntronicSNV - 2/15 1
1-23110868-G-C c.127-17G>C - IntronicSNV - 2/15 1
1-23110885-T-A c.127T>A p.W43R Missense 3/16 - 1
1-23110885-T-C c.127T>C p.W43R Missense 3/16 - 1
1-23110886-G-T c.128G>T p.W43L Missense 3/16 - 2
1-23110887-G-C c.129G>C p.W43C Missense 3/16 - 1
1-23110887-G-T c.129G>T p.W43C Missense 3/16 - 1
1-23110888-G-C c.130G>C p.E44Q Missense 3/16 - 1
1-23110894-GTG-ATC c.136_138delinsATC p.V46I Missense 3/16 - 1
1-23110895-T-C c.137T>C p.V46A Missense 3/16 - 1
1-23110897-AG-GC c.139_140delinsGC p.S47A Missense 3/16 - 1
1-23110897-A-T c.139A>T p.S47C Missense 3/16 - 1
1-23110900-G-A c.142G>A p.G48S Missense 3/16 - 1
1-23110901-G-T c.143G>T p.G48V Missense 3/16 - 1
1-23110902-C-T c.144C>T p.G48= Synonymous 3/16 - 1
1-23110905-C-A c.147C>A p.Y49* Nonsense 3/16 - 2
1-23110906-G-A c.148G>A p.D50N Missense 3/16 - 6
1-23110906-G-T c.148G>T p.D50Y Missense 3/16 - 1
1-23110910-A-G c.152A>G p.E51G Missense 3/16 - 1
1-23110911-G-C c.153G>C p.E51D Missense 3/16 - 1
1-23110911-G-T c.153G>T p.E51D Missense 3/16 - 1
1-23110921-AC-GG c.163_164delinsGG p.T55G Missense 3/16 - 1
1-23110921-A-T c.163A>T p.T55S Missense 3/16 - 1
1-23110922-C-T c.164C>T p.T55M Missense 3/16 - 4
1-23110923-G-A c.165G>A p.T55= Synonymous 3/16 - 3
1-23110923-G-C c.165G>C p.T55= Synonymous 3/16 - 1
1-23110923-G-T c.165G>T p.T55= Synonymous 3/16 - 1
1-23110927-C-T c.169C>T p.R57C Missense 3/16 - 3
1-23110928-G-A c.170G>A p.R57H Missense 3/16 - 1
1-23110929-C-A c.171C>A p.R57= Synonymous 3/16 - 1
1-23110931-C-T c.173C>T p.T58M Missense 3/16 - 4
1-23110932-G-A c.174G>A p.T58= Synonymous 3/16 - 3
1-23110933-T-C c.175T>C p.Y59H Missense 3/16 - 1
1-23110936-C-T c.178C>T p.Q60* Nonsense 3/16 - 1
1-23110938-G-T c.180G>T p.Q60H Missense 3/16 - 2
1-23110939-G-A c.181G>A p.V61M Missense 3/16 - 1
1-23110939-G-C c.181G>C p.V61L Missense 3/16 - 2
1-23110939-G-T c.181G>T p.V61L Missense 3/16 - 1
1-23110943-G-A c.185G>A p.C62Y Missense 3/16 - 1
1-23110943-G-T c.185G>T p.C62F Missense 3/16 - 1
1-23110945-A-G c.187A>G p.N63D Missense 3/16 - 1
1-23110946-A-G c.188A>G p.N63S Missense 3/16 - 2
1-23110947-C-A c.189C>A p.N63K Missense 3/16 - 1
1-23110947-C-T c.189C>T p.N63= Synonymous 3/16 - 1
1-23110950-G-A c.192G>A p.V64= Synonymous 3/16 - 1
1-23110950-G-C c.192G>C p.V64= Synonymous 3/16 - 1
1-23110950-G-T c.192G>T p.V64= Synonymous 3/16 - 1
1-23110954-G-C c.196G>C p.E66Q Missense 3/16 - 1
1-23110955-A-G c.197A>G p.E66G Missense 3/16 - 1
1-23110956-G-A c.198G>A p.E66= Synonymous 3/16 - 1
1-23110958-C-T c.200C>T p.S67L Missense 3/16 - 1
1-23110961-G-T c.203G>T p.S68I Missense 3/16 - 1
1-23110963-C-T c.205C>T p.Q69* Nonsense 3/16 - 1
1-23110964-A-G c.206A>G p.Q69R Missense 3/16 - 1
1-23110965-G-A c.207G>A p.Q69= Synonymous 3/16 - 1
1-23110972-T-A c.214T>A p.W72R Missense 3/16 - 1
1-23110972-T-C c.214T>C p.W72R Missense 3/16 - 1
1-23110978-C-T c.220C>T p.R74W Missense 3/16 - 4
1-23110979-G-A c.221G>A p.R74Q Missense 3/16 - 7
1-23110980-G-A c.222G>A p.R74= Synonymous 3/16 - 1
1-23110985-A-G c.227A>G p.K76R Missense 3/16 - 1
1-23110987-T-C c.229T>C p.F77L Missense 3/16 - 2
1-23110989-T-A c.231T>A p.F77L Missense 3/16 - 2
1-23110989-T-G c.231T>G p.F77L Missense 3/16 - 2
1-23110986-GTTTA-G c.230_233del p.F77Sfs*13 Frameshift 3/16 - 1
1-23110990-A-T c.232A>T p.I78F Missense 3/16 - 3
1-23110991-T-C c.233T>C p.I78T Missense 3/16 - 1
1-23110992-C-T c.234C>T p.I78= Synonymous 3/16 - 1
1-23110993-C-T c.235C>T p.R79W Missense 3/16 - 9
1-23110994-G-A c.236G>A p.R79Q Missense 3/16 - 2
1-23110994-G-C c.236G>C p.R79P Missense 3/16 - 2
1-23110996-C-T c.238C>T p.R80C Missense 3/16 - 3
1-23110997-G-A c.239G>A p.R80H Missense 3/16 - 5
1-23110999-C-T c.241C>T p.R81C Missense 3/16 - 7
1-23111000-G-A c.242G>A p.R81H Missense 3/16 - 2
1-23111003-G-A c.245G>A p.G82D Missense 3/16 - 1
1-23111005-G-A c.247G>A p.A83T Missense 3/16 - 5
1-23111007-C-T c.249C>T p.A83= Synonymous 3/16 - 3
1-23111009-A-T c.251A>T p.H84L Missense 3/16 - 1
1-23111010-C-G c.252C>G p.H84Q Missense 3/16 - 2
1-23111011-C-T c.253C>T p.R85C Missense 3/16 - 2
1-23111012-G-A c.254G>A p.R85H Missense 3/16 - 6
1-23111013-C-T c.255C>T p.R85= Synonymous 3/16 - 1
1-23111014-A-G c.256A>G p.I86V Missense 3/16 - 1
1-23111015-T-C c.257T>C p.I86T Missense 3/16 - 1
1-23111017-C-T c.259C>T p.H87Y Missense 3/16 - 1
1-23111019-C-T c.261C>T p.H87= Synonymous 3/16 - 7
1-23111020-G-A c.262G>A p.V88M Missense 3/16 - 4
1-23111022-G-A c.264G>A p.V88= Synonymous 3/16 - 2
1-23111022-G-C c.264G>C p.V88= Synonymous 3/16 - 1
1-23111022-G-T c.264G>T p.V88= Synonymous 3/16 - 1
1-23111026-A-G c.268A>G p.M90V Missense 3/16 - 1
1-23111026-GAT-G c.268_269del p.M90Efs*6 Frameshift 3/16 - 1
1-23111034-T-C c.276T>C p.F92= Synonymous 3/16 - 1
1-23111036-C-G c.278C>G p.S93W Missense 3/16 - 1
1-23111036-C-T c.278C>T p.S93L Missense 3/16 - 8
1-23111038-G-A c.280G>A p.V94M Missense 3/16 - 1
1-23111038-GTG-ATC c.280_282delinsATC p.V94I Missense 3/16 - 1
1-23111041-C-T c.283C>T p.R95C Missense 3/16 - 1
1-23111042-G-A c.284G>A p.R95H Missense 3/16 - 1
1-23111044-G-A c.286G>A p.D96N Missense 3/16 - 1
1-23111049-C-T c.291C>T p.C97= Synonymous 3/16 - 1
1-23111050-A-G c.292A>G p.S98G Missense 3/16 - 1
1-23111051-G-T c.293G>T p.S98I Missense 3/16 - 3
1-23111056-A-G c.298A>G p.I100V Missense 3/16 - 1
1-23111059-C-T c.301C>T p.P101S Missense 3/16 - 1
1-23111060-CC-AA c.302_303delinsAA p.P101Q Missense 3/16 - 1
1-23111062-A-T c.304A>T p.S102C Missense 3/16 - 1
1-23111064-C-T c.306C>T p.S102= Synonymous 3/16 - 1
1-23111065-G-A c.307G>A p.V103M Missense 3/16 - 1
1-23111065-G-T c.307G>T p.V103L Missense 3/16 - 1
1-23111068-C-T c.310C>T p.P104S Missense 3/16 - 1
1-23111070-T-C c.312T>C p.P104= Synonymous 3/16 - 1
1-23111071-G-T c.313G>T p.G105C Missense 3/16 - 1
1-23111073-C-A c.315C>A p.G105= Synonymous 3/16 - 1
1-23111073-C-G c.315C>G p.G105= Synonymous 3/16 - 1
1-23111073-C-T c.315C>T p.G105= Synonymous 3/16 - 1
1-23111074-T-C c.316T>C p.S106P Missense 3/16 - 1
1-23111075-C-T c.317C>T p.S106F Missense 3/16 - 3
1-23111076-C-A c.318C>A p.S106= Synonymous 3/16 - 1
1-23111082-G-C c.324G>C p.K108N Missense 3/16 - 1
1-23111087-C-A c.329C>A p.T110N Missense 3/16 - 3
1-23111102-A-C c.344A>C p.Y115S Missense 3/16 - 1
1-23111102-A-T c.344A>T p.Y115F Missense 3/16 - 4
1-23111103-CTA-C c.347_348del p.Y116* Frameshift 3/16 - 1
1-23111107-G-A c.349G>A p.E117K Missense 3/16 - 1
1-23111111-C-G c.353C>G p.A118G Missense 3/16 - 1
1-23111111-C-T c.353C>T p.A118V Missense 3/16 - 1
1-23111112-T-A c.354T>A p.A118= Synonymous 3/16 - 1
1-23111112-T-C c.354T>C p.A118= Synonymous 3/16 - 1
1-23111112-T-G c.354T>G p.A118= Synonymous 3/16 - 1
1-23111114-A-G c.356A>G p.D119G Missense 3/16 - 1
1-23111119-G-T c.361G>T p.D121Y Missense 3/16 - 1
1-23111121-C-G c.363C>G p.D121E Missense 3/16 - 1
1-23111122-T-C c.364T>C p.S122P Missense 3/16 - 4
1-23111122-T-G c.364T>G p.S122A Missense 3/16 - 1
1-23111123-C-T c.365C>T p.S122L Missense 3/16 - 1
1-23111124-G-A c.366G>A p.S122= Synonymous 3/16 - 2
1-23111124-G-C c.366G>C p.S122= Synonymous 3/16 - 1
1-23111124-G-T c.366G>T p.S122= Synonymous 3/16 - 1
1-23111132-A-G c.374A>G p.K125R Missense 3/16 - 1
1-23111135-C-T c.377C>T p.T126I Missense 3/16 - 1
1-23111140-C-G c.382C>G p.P128A Missense 3/16 - 1
1-23111138-TC-T c.384del p.N129Tfs*8 Frameshift 3/16 - 1
1-23111144-A-C c.386A>C p.N129T Missense 3/16 - 1
1-23111144-A-G c.386A>G p.N129S Missense 3/16 - 1
1-23111149-A-G c.391A>G p.M131V Missense 3/16 - 1
1-23111152-G-A c.394G>A p.E132K Missense 3/16 - 3
1-23111153-A-C c.395A>C p.E132A Missense 3/16 - 1
1-23111158-C-T c.400C>T p.P134S Missense 3/16 - 1
1-23111164-G-A c.406G>A p.V136M Missense 3/16 - 1
1-23111164-G-T c.406G>T p.V136L Missense 3/16 - 1
1-23111169-G-A c.411G>A p.K137= Synonymous 3/16 - 2
1-23111172-G-A c.414G>A p.V138= Synonymous 3/16 - 1
1-23111172-G-C c.414G>C p.V138= Synonymous 3/16 - 1
1-23111172-G-T c.414G>T p.V138= Synonymous 3/16 - 1
1-23111173-G-C c.415G>C p.D139H Missense 3/16 - 2
1-23111179-A-G c.421A>G p.I141V Missense 3/16 - 1
1-23111183-C-T c.425C>T p.A142V Missense 3/16 - 1
1-23111184-A-C c.426A>C p.A142= Synonymous 3/16 - 3
1-23111184-A-G c.426A>G p.A142= Synonymous 3/16 - 1
1-23111184-A-T c.426A>T p.A142= Synonymous 3/16 - 1
1-23111186-C-T c.428C>T p.A143V Missense 3/16 - 1
1-23111195-G-A c.437G>A p.S146N Missense 3/16 - 3
1-23111201-C-T c.443C>T p.S148F Missense 3/16 - 2
1-23111204-CAGG-C c.446_448del p.Q149_V150delinsL MultiAAMissense 3/16 - 1
1-23111205-G-C c.447G>C p.Q149H Missense 3/16 - 1
1-23111208-G-A c.450G>A p.V150= Synonymous 3/16 - 2
1-23111208-G-C c.450G>C p.V150= Synonymous 3/16 - 1
1-23111208-G-T c.450G>T p.V150= Synonymous 3/16 - 1
1-23111209-G-A c.451G>A p.D151N Missense 3/16 - 1
1-23111217-T-A c.459T>A p.G153= Synonymous 3/16 - 1
1-23111217-T-C c.459T>C p.G153= Synonymous 3/16 - 1
1-23111217-T-G c.459T>G p.G153= Synonymous 3/16 - 1
1-23111220-C-A c.462C>A p.G154= Synonymous 3/16 - 1
1-23111221-C-A c.463C>A p.R155S Missense 3/16 - 1
1-23111221-C-T c.463C>T p.R155C Missense 3/16 - 3
1-23111222-G-A c.464G>A p.R155H Missense 3/16 - 1
1-23111224-G-A c.466G>A p.V156I Missense 3/16 - 7
1-23111229-G-A c.471G>A p.M157I Missense 3/16 - 6
1-23111229-G-C c.471G>C p.M157I Missense 3/16 - 2
1-23111229-G-T c.471G>T p.M157I Missense 3/16 - 2
1-23111234-T-C c.476T>C p.I159T Missense 3/16 - 1
1-23111238-C-A c.480C>A p.N160K Missense 3/16 - 1
1-23111239-A-G c.481A>G p.T161A Missense 3/16 - 1
1-23111240-C-G c.482C>G p.T161S Missense 3/16 - 1
1-23111240-C-T c.482C>T p.T161I Missense 3/16 - 2
1-23111242-G-A c.484G>A p.E162K Missense 3/16 - 2
1-23111246-T-C c.488T>C p.V163A Missense 3/16 - 3
1-23111247-G-A c.489G>A p.V163= Synonymous 3/16 - 1
1-23111249-G-A c.491G>A p.R164Q Missense 3/16 - 5
1-23111250-G-A c.492G>A p.R164= Synonymous 3/16 - 2
1-23111250-G-C c.492G>C p.R164= Synonymous 3/16 - 1
1-23111250-G-T c.492G>T p.R164= Synonymous 3/16 - 1
1-23111252-G-A c.494G>A p.S165N Missense 3/16 - 1
1-23111257-G-T c.499G>T p.G167* Nonsense 3/16 - 1
1-23111258-G-A c.500G>A p.G167E Missense 3/16 - 1
1-23111260-C-T c.502C>T p.P168S Missense 3/16 - 1
1-23111262-T-A c.504T>A p.P168= Synonymous 3/16 - 1
1-23111262-T-C c.504T>C p.P168= Synonymous 3/16 - 1
1-23111262-T-G c.504T>G p.P168= Synonymous 3/16 - 1
1-23111265-G-A c.507G>A p.V169= Synonymous 3/16 - 1
1-23111266-T-C c.508T>C p.S170P Missense 3/16 - 1
1-23111266-TC-CG c.508_509delinsCG p.S170R Missense 3/16 - 1
1-23111267-C-T c.509C>T p.S170F Missense 3/16 - 5
1-23111268-C-T c.510C>T p.S170= Synonymous 3/16 - 1
1-23111269-C-T c.511C>T p.R171C Missense 3/16 - 4
1-23111272-A-G c.514A>G p.S172G Missense 3/16 - 1
1-23111273-G-C c.515G>C p.S172T Missense 3/16 - 1
1-23111274-C-T c.516C>T p.S172= Synonymous 3/16 - 1
1-23111275-G-T c.517G>T p.G173C Missense 3/16 - 1
1-23111276-G-C c.518G>C p.G173A Missense 3/16 - 2
1-23111280-C-T c.522C>T p.F174= Synonymous 3/16 - 1
1-23111281-T-G c.523T>G p.Y175D Missense 3/16 - 1
1-23111286-G-A c.528G>A p.L176= Synonymous 3/16 - 1
1-23111287-G-A c.529G>A p.A177T Missense 3/16 - 1
1-23111289-C-A c.531C>A p.A177= Synonymous 3/16 - 3
1-23111289-C-G c.531C>G p.A177= Synonymous 3/16 - 3
1-23111289-C-T c.531C>T p.A177= Synonymous 3/16 - 3
1-23111291-T-C c.533T>C p.F178S Missense 3/16 - 1
1-23111292-C-T c.534C>T p.F178= Synonymous 3/16 - 4
1-23111298-C-A c.540C>A p.D180E Missense 3/16 - 1
1-23111298-C-G c.540C>G p.D180E Missense 3/16 - 1
1-23111299-TA-AT c.541_542delinsAT p.Y181I Missense 3/16 - 1
1-23111299-TA-GT c.541_542delinsGT p.Y181V Missense 3/16 - 1
1-23111300-A-C c.542A>C p.Y181S Missense 3/16 - 1
1-23111300-A-G c.542A>G p.Y181C Missense 3/16 - 5
1-23111301-T-C c.543T>C p.Y181= Synonymous 3/16 - 1
1-23111305-G-A c.547G>A p.G183S Missense 3/16 - 2
1-23111306-G-T c.548G>T p.G183V Missense 3/16 - 3
1-23111308-T-A c.550T>A p.C184S Missense 3/16 - 1
1-23111308-T-G c.550T>G p.C184G Missense 3/16 - 1
1-23111309-G-C c.551G>C p.C184S Missense 3/16 - 1
1-23111311-A-G c.553A>G p.M185V Missense 3/16 - 1
1-23111315-C-A c.557C>A p.S186Y Missense 3/16 - 2
1-23111317-C-T c.559C>T p.L187F Missense 3/16 - 1
1-23111322-C-A c.564C>A p.I188= Synonymous 3/16 - 1
1-23111322-C-T c.564C>T p.I188= Synonymous 3/16 - 1
1-23111323-G-A c.565G>A p.A189T Missense 3/16 - 2
1-23111326-G-A c.568G>A p.V190M Missense 3/16 - 4
1-23111329-C-T c.571C>T p.R191C Missense 3/16 - 1
1-23111332-G-A c.574G>A p.V192I Missense 3/16 - 1
1-23111335-T-C c.577T>C p.F193L Missense 3/16 - 1
1-23111335-TT-GC c.577_578delinsGC p.F193A Missense 3/16 - 1
1-23111341-C-T c.583C>T p.R195C Missense 3/16 - 2
1-23111342-G-A c.584G>A p.R195H Missense 3/16 - 3
1-23111349-C-T c.591C>T p.C197= Synonymous 3/16 - 1
1-23111350-C-G c.592C>G p.P198A Missense 3/16 - 1
1-23111350-C-T c.592C>T p.P198S Missense 3/16 - 1
1-23111351-C-T c.593C>T p.P198L Missense 3/16 - 1
1-23111352-C-T c.594C>T p.P198= Synonymous 3/16 - 2
1-23111353-C-T c.595C>T p.R199C Missense 3/16 - 4
1-23111354-G-A c.596G>A p.R199H Missense 3/16 - 4
1-23111357-T-C c.599T>C p.I200T Missense 3/16 - 1
1-23111358-C-A c.600C>A p.I200= Synonymous 3/16 - 1
1-23111358-C-T c.600C>T p.I200= Synonymous 3/16 - 1
1-23111361-C-A c.603C>A p.I201= Synonymous 3/16 - 1
1-23111361-C-T c.603C>T p.I201= Synonymous 3/16 - 2
1-23111364-G-A c.606G>A p.Q202= Synonymous 3/16 - 2
1-23111370-C-T c.612C>T p.G204= Synonymous 3/16 - 2
1-23111374-A-C c.616A>C p.I206L Missense 3/16 - 1
1-23111376-C-T c.618C>T p.I206= Synonymous 3/16 - 1
1-23111377-T-C c.619T>C p.F207L Missense 3/16 - 1
1-23111379-C-A c.621C>A p.F207L Missense 3/16 - 1
1-23111379-C-G c.621C>G p.F207L Missense 3/16 - 1
1-23111379-C-T c.621C>T p.F207= Synonymous 3/16 - 2
1-23111383-G-A c.625G>A p.E209K Missense 3/16 - 2
1-23111386-ACC-TGG c.628_630delinsTGG p.T210W Missense 3/16 - 1
1-23111389-C-T c.631C>T p.L211= Synonymous 3/16 - 1
1-23111394-G-A c.636G>A p.S212= Synonymous 3/16 - 4
1-23111394-G-C c.636G>C p.S212= Synonymous 3/16 - 2
1-23111394-G-T c.636G>T p.S212= Synonymous 3/16 - 2
1-23111396-G-A c.638G>A p.G213E Missense 3/16 - 1
1-23111396-G-T c.638G>T p.G213V Missense 3/16 - 1
1-23111401-G-A c.643G>A p.E215K Missense 3/16 - 3
1-23111405-G-C c.647G>C p.S216T Missense 3/16 - 2
1-23111406-C-T c.648C>T p.S216= Synonymous 3/16 - 1
1-23111407-AC-GG c.649_650delinsGG p.T217G Missense 3/16 - 1
1-23111411-C-T c.653C>T p.S218L Missense 3/16 - 4
1-23111412-G-A c.654G>A p.S218= Synonymous 3/16 - 2
1-23111412-G-C c.654G>C p.S218= Synonymous 3/16 - 1
1-23111412-G-T c.654G>T p.S218= Synonymous 3/16 - 2
1-23111415-G-A c.657G>A p.L219= Synonymous 3/16 - 1
1-23111420-C-A c.662C>A p.A221D Missense 3/16 - 1
1-23111420-C-T c.662C>T p.A221V Missense 3/16 - 1
1-23111421-T-A c.663T>A p.A221= Synonymous 3/16 - 1
1-23111421-T-C c.663T>C p.A221= Synonymous 3/16 - 1
1-23111423-C-T c.665C>T p.A222V Missense 3/16 - 1
1-23111424-C-T c.666C>T p.A222= Synonymous 3/16 - 2
1-23111425-C-T c.667C>T p.R223W Missense 3/16 - 5
1-23111426-G-A c.668G>A p.R223Q Missense 3/16 - 4
1-23111426-GG-AT c.668_669delinsAT p.R223H Missense 3/16 - 1
1-23111426-G-T c.668G>T p.R223L Missense 3/16 - 1
1-23111429-G-T c.671G>T p.G224V Missense 3/16 - 1
1-23111430-C-A c.672C>A p.G224= Synonymous 3/16 - 1
1-23111431-AG-TT c.673_674delinsTT p.S225F Missense 3/16 - 1
1-23111439-C-T c.681C>T p.I227= Synonymous 3/16 - 5
1-23111440-G-A c.682G>A p.A228T Missense 3/16 - 4
1-23111440-G-T c.682G>T p.A228S Missense 3/16 - 1
1-23111441-C-G c.683C>G p.A228G Missense 3/16 - 2
1-23111448-G-A c.690G>A p.A230= Synonymous 3/16 - 3
1-23111448-G-C c.690G>C p.A230= Synonymous 3/16 - 1
1-23111448-G-T c.690G>T p.A230= Synonymous 3/16 - 1
1-23111449-G-A c.691G>A p.E231K Missense 3/16 - 1
1-23111452-G-A c.694G>A p.E232K Missense 3/16 - 1
1-23111456-T-A c.698T>A p.V233E Missense 3/16 - 1
1-23111457-G-A c.699G>A p.V233= Synonymous 3/16 - 2
1-23111458-G-A c.700G>A p.D234N Missense 3/16 - 1
1-23111460-T-C c.702T>C p.D234= Synonymous 3/16 - 1
1-23111462-T-C c.704T>C p.V235A Missense 3/16 - 1
1-23111463-A-C c.705A>C p.V235= Synonymous 3/16 - 1
1-23111471-A-C c.713A>C p.K238T Missense 3/16 - 1
1-23111482-A-C c.724A>C p.N242H Missense 3/16 - 1
1-23111485-G-A c.727G>A p.G243R Missense 3/16 - 1
1-23111486-G-A c.728G>A p.G243E Missense 3/16 - 2
1-23111487-G-A c.729G>A p.G243= Synonymous 3/16 - 3
1-23111488-G-T c.730G>T p.D244Y Missense 3/16 - 1
1-23111487-GGAC-G c.731_733del p.D244del InFrameDeletion 3/16 - 1
1-23111490-C-T c.732C>T p.D244= Synonymous 3/16 - 3
1-23111491-G-A c.733G>A p.G245S Missense 3/16 - 1
1-23111491-G-T c.733G>T p.G245C Missense 3/16 - 1
1-23111492-G-A c.734G>A p.G245D Missense 3/16 - 1
1-23111494-G-A c.736G>A p.E246K Missense 3/16 - 3
1-23111494-G-C c.736G>C p.E246Q Missense 3/16 - 1
1-23111496-G-C c.738G>C p.E246D Missense 3/16 - 1
1-23111496-G-T c.738G>T p.E246D Missense 3/16 - 1
1-23111497-T-C c.739T>C p.W247R Missense 3/16 - 1
1-23111498-G-A c.740G>A p.W247* Nonsense 3/16 - 1
1-23111499-G-A c.741G>A p.W247* Nonsense 3/16 - 1
1-23111500-C-G c.742C>G p.L248V Missense 3/16 - 1
1-23111501-T-G c.743T>G p.L248R Missense 3/16 - 1
1-23111504-GTGCCCATC-G c.746_753del p.V249Gfs*13 Frameshift 3/16 - 1
1-23111504-T-G c.746T>G p.V249G Missense 3/16 - 1
1-23111509-A-T c.751A>T p.I251F Missense 3/16 - 1
1-23111511-C-A c.753C>A p.I251= Synonymous 3/16 - 1
1-23111511-C-T c.753C>T p.I251= Synonymous 3/16 - 2
1-23111512-G-A c.754G>A p.G252R Missense 3/16 - 4
1-23111512-G-C c.754G>C p.G252R Missense 3/16 - 1
1-23111515-C-T c.757C>T p.R253C Missense 3/16 - 2
1-23111516-G-A c.758G>A p.R253H Missense 3/16 - 4
1-23111518-TG-AC c.760_761delinsAC p.C254T Missense 3/16 - 1
1-23111519-G-A c.761G>A p.C254Y Missense 3/16 - 1
1-23111521-A-G c.763A>G p.M255V Missense 3/16 - 1
1-23111521-A-T c.763A>T p.M255L Missense 3/16 - 1
1-23111523-G-A c.765G>A p.M255I Missense 3/16 - 1
1-23111526-C-A c.768C>A p.C256* Nonsense 3/16 - 1
1-23111526-C-T c.768C>T p.C256= Synonymous 3/16 - 2
1-23111531-C-T c.773C>T p.A258V Missense 3/16 - 1
1-23111535-C-G c.777C>G p.G259= Synonymous 3/16 - 1
1-23111536-T-C c.778T>C p.F260L Missense 3/16 - 1
1-23111538-C-A c.780C>A p.F260L Missense 3/16 - 1
1-23111538-C-G c.780C>G p.F260L Missense 3/16 - 1
1-23111538-C-T c.780C>T p.F260= Synonymous 3/16 - 3
1-23111539-G-A c.781G>A p.E261K Missense 3/16 - 1
1-23111543-C-G c.785C>G p.A262G Missense 3/16 - 1
1-23111544-C-A c.786C>A p.A262= Synonymous 3/16 - 1
1-23111544-C-G c.786C>G p.A262= Synonymous 3/16 - 1
1-23111544-C-T c.786C>T p.A262= Synonymous 3/16 - 1
1-23111545-G-A c.787G>A p.V263I Missense 3/16 - 1
1-23111552-A-G c.794A>G p.N265S Missense 3/16 - 1
1-23111555-G-T c.797G>T p.G266V Missense 3/16 - 1
1-23111558-CC-TG c.800_801delinsTG p.T267M Missense 3/16 - 1
1-23111559-C-A c.801C>A p.T267= Synonymous 3/16 - 2
1-23111559-C-G c.801C>G p.T267= Synonymous 3/16 - 2
1-23111559-C-T c.801C>T p.T267= Synonymous 3/16 - 3
1-23111560-G-A c.802G>A p.V268I Missense 3/16 - 1
1-23111563-T-C c.805T>C p.C269R Missense 3/16 - 1
1-23111566-CGA-TGT c.808_810delinsTGT p.R270C Missense 3/16 - 1
1-23111567-G-A c.809G>A p.R270Q Missense 3/16 - 4
1-23111567-G-T c.809G>T p.R270L Missense 3/16 - 1
1-23111577-C-A c.811+8C>A - IntronicSNV - 3/15 1
1-23111765-C-T c.811+196C>T - IntronicSNV - 3/15 1
1-23112220-G-A c.811+651G>A - IntronicSNV - 3/15 1
1-23113902-G-T c.811+2333G>T - IntronicSNV - 3/15 1
1-23115253-T-G c.811+3684T>G - IntronicSNV - 3/15 1
1-23115357-T-C c.811+3788T>C - IntronicSNV - 3/15 1
1-23115358-G-C c.811+3789G>C - IntronicSNV - 3/15 1
1-23116049-T-C c.811+4480T>C - IntronicSNV - 3/15 1
1-23118173-T-C c.811+6604T>C - IntronicSNV - 3/15 1
1-23128364-C-T c.811+16795C>T - IntronicSNV - 3/15 1
1-23131537-C-G c.811+19968C>G - IntronicSNV - 3/15 1
1-23131538-C-T c.811+19969C>T - IntronicSNV - 3/15 1
1-23131539-C-G c.811+19970C>G - IntronicSNV - 3/15 1
1-23133060-G-A c.811+21491G>A - IntronicSNV - 3/15 1
1-23133375-GC-G c.811+21813del - IntronicDeletion - 3/15 1
1-23133487-A-G c.811+21918A>G - IntronicSNV - 3/15 1
1-23133792-G-A c.811+22223G>A - IntronicSNV - 3/15 1
1-23134218-G-A c.811+22649G>A - IntronicSNV - 3/15 5
1-23135015-G-A c.811+23446G>A - IntronicSNV - 3/15 1
1-23136427-C-T c.811+24858C>T - IntronicSNV - 3/15 1
1-23137631-C-T c.811+26062C>T - IntronicSNV - 3/15 1
1-23137761-G-A c.811+26192G>A - IntronicSNV - 3/15 1
1-23139061-C-T c.811+27492C>T - IntronicSNV - 3/15 1
1-23139101-C-T c.811+27532C>T - IntronicSNV - 3/15 1
1-23141467-C-T c.811+29898C>T - IntronicSNV - 3/15 1
1-23142280-C-T c.811+30711C>T - IntronicSNV - 3/15 2
1-23142351-C-T c.811+30782C>T - IntronicSNV - 3/15 1
1-23143484-C-T c.811+31915C>T - IntronicSNV - 3/15 1
1-23144006-C-T c.811+32437C>T - IntronicSNV - 3/15 1
1-23145239-G-A c.811+33670G>A - IntronicSNV - 3/15 1
1-23145239-G-C c.811+33670G>C - IntronicSNV - 3/15 1
1-23146648-C-T c.811+35079C>T - IntronicSNV - 3/15 1
1-23146997-TAC-T c.811+35430_811+35431del - IntronicDeletion - 3/15 1
1-23152969-G-A c.812-36561G>A - IntronicSNV - 3/15 1
1-23152969-G-C c.812-36561G>C - IntronicSNV - 3/15 1
1-23155231-A-G c.812-34299A>G - IntronicSNV - 3/15 4
1-23156102-C-T c.812-33428C>T - IntronicSNV - 3/15 1
1-23158122-A-G c.812-31408A>G - IntronicSNV - 3/15 1
1-23160272-T-A c.812-29258T>A - IntronicSNV - 3/15 1
1-23160272-T-C c.812-29258T>C - IntronicSNV - 3/15 1
1-23160272-T-G c.812-29258T>G - IntronicSNV - 3/15 1
1-23165187-C-T c.812-24343C>T - IntronicSNV - 3/15 1
1-23168059-C-T c.812-21471C>T - IntronicSNV - 3/15 1
1-23169503-T-C c.812-20027T>C - IntronicSNV - 3/15 1
1-23174163-A-C c.812-15367A>C - IntronicSNV - 3/15 2
1-23184206-A-C c.812-5324A>C - IntronicSNV - 3/15 1
1-23184206-A-G c.812-5324A>G - IntronicSNV - 3/15 1
1-23185399-A-C c.812-4131A>C - IntronicSNV - 3/15 1
1-23185399-A-G c.812-4131A>G - IntronicSNV - 3/15 1
1-23189503-G-A c.812-27G>A - IntronicSNV - 3/15 1
1-23189534-T-C c.816T>C p.C272= Synonymous 4/16 - 1
1-23189538-TC-AA c.820_821delinsAA p.S274N Missense 4/16 - 2
1-23189542-G-A c.824G>A p.G275E Missense 4/16 - 1
1-23189546-T-A c.828T>A p.T276= Synonymous 4/16 - 1
1-23189546-T-C c.828T>C p.T276= Synonymous 4/16 - 1
1-23189546-T-G c.828T>G p.T276= Synonymous 4/16 - 1
1-23189553-G-C c.835G>C p.A279P Missense 4/16 - 1
1-23189553-G-T c.835G>T p.A279S Missense 4/16 - 10
1-23189554-C-G c.836C>G p.A279G Missense 4/16 - 1
1-23189556-A-G c.838A>G p.N280D Missense 4/16 - 1
1-23189565-G-A c.847G>A p.D283N Missense 4/16 - 2
1-23189565-G-C c.847G>C p.D283H Missense 4/16 - 5
1-23189566-A-G c.848A>G p.D283G Missense 4/16 - 1
1-23189568-G-T c.850G>T p.E284* Nonsense 4/16 - 1
1-23189571-G-A c.853G>A p.A285T Missense 4/16 - 1
1-23189572-C-G c.854C>G p.A285G Missense 4/16 - 1
1-23189575-G-A c.857G>A p.C286Y Missense 4/16 - 2
1-23189578-C-A c.860C>A p.T287N Missense 4/16 - 1
1-23189580-C-T c.862C>T p.H288Y Missense 4/16 - 1
1-23189583-T-G c.865T>G p.C289G Missense 4/16 - 2
1-23189587-C-A c.869C>A p.P290H Missense 4/16 - 1
1-23189588-C-A c.870C>A p.P290= Synonymous 4/16 - 1
1-23189588-C-G c.870C>G p.P290= Synonymous 4/16 - 1
1-23189588-C-T c.870C>T p.P290= Synonymous 4/16 - 1
1-23189593-A-G c.875A>G p.N292S Missense 4/16 - 1
1-23189598-C-T c.880C>T p.R294W Missense 4/16 - 1
1-23189610-G-A c.892G>A p.E298K Missense 4/16 - 3
1-23189612-AGGG-CTGT c.894_897delinsCTGT p.E298_G299delinsDC MultiAAMissense 4/16 - 1
1-23189614-G-A c.896G>A p.G299E Missense 4/16 - 3
1-23189614-G-T c.896G>T p.G299V Missense 4/16 - 1
1-23189620-CC-TG c.902_903delinsTG p.T301M Missense 4/16 - 1
1-23189623-A-G c.905A>G p.N302S Missense 4/16 - 1
1-23189627-T-C c.909T>C p.C303= Synonymous 4/16 - 2
1-23189634-C-T c.916C>T p.R306C Missense 4/16 - 1
1-23189635-G-A c.917G>A p.R306H Missense 4/16 - 2
1-23189638-A-G c.920A>G p.N307S Missense 4/16 - 1
1-23189641-G-A c.923G>A p.G308D Missense 4/16 - 1
1-23189644-A-G c.926A>G p.Y309C Missense 4/16 - 1
1-23189648-C-T c.930C>T p.Y310= Synonymous 4/16 - 1
1-23189649-A-G c.931A>G p.R311G Missense 4/16 - 1
1-23189649-AG-CA c.931_932delinsCA p.R311Q Missense 4/16 - 1
1-23189649-AG-CT c.931_932inv p.R311L Missense 4/16 - 1
1-23189650-G-A c.932G>A p.R311K Missense 4/16 - 1
1-23189651-AGCAGACCTG-A c.935_943del p.A312_L314del InFrameDeletion 4/16 - 1
1-23189653-C-A c.935C>A p.A312E Missense 4/16 - 1
1-23189655-G-A c.937G>A p.D313N Missense 4/16 - 2
1-23189658-C-T c.940C>T p.L314= Synonymous 4/16 - 2
1-23189660-G-A c.942G>A p.L314= Synonymous 4/16 - 1
1-23189660-G-C c.942G>C p.L314= Synonymous 4/16 - 1
1-23189660-G-T c.942G>T p.L314= Synonymous 4/16 - 1
1-23189661-G-A c.943G>A p.D315N Missense 4/16 - 1
1-23189667-C-A c.949C>A p.L317M Missense 4/16 - 2
1-23189667-C-T c.949C>T p.L317= Synonymous 4/16 - 1
1-23189669-G-A c.951G>A p.L317= Synonymous 4/16 - 1
1-23189669-G-C c.951G>C p.L317= Synonymous 4/16 - 1
1-23189669-G-T c.951G>T p.L317= Synonymous 4/16 - 1
1-23189670-G-A c.952G>A p.D318N Missense 4/16 - 1
1-23189673-A-G c.955A>G p.M319V Missense 4/16 - 1
1-23189675-G-T c.957G>T p.M319I Missense 4/16 - 1
1-23189681-C-T c.963C>T p.C321= Synonymous 4/16 - 1
1-23189686-G-A c.967+1G>A - IntronicSNV - 4/15 1
1-23189692-C-T c.967+7C>T - IntronicSNV - 4/15 1
1-23189724-G-A c.967+39G>A - IntronicSNV - 4/15 1
1-23189770-G-A c.967+85G>A - IntronicSNV - 4/15 2
1-23189770-G-T c.967+85G>T - IntronicSNV - 4/15 1
1-23191373-T-G c.971T>G p.I324S Missense 5/16 - 1
1-23191378-T-C c.976T>C p.S326P Missense 5/16 - 1
1-23191380-C-A c.978C>A p.S326= Synonymous 5/16 - 3
1-23191380-C-G c.978C>G p.S326= Synonymous 5/16 - 3
1-23191380-C-T c.978C>T p.S326= Synonymous 5/16 - 6
1-23191381-G-A c.979G>A p.A327T Missense 5/16 - 3
1-23191381-G-C c.979G>C p.A327P Missense 5/16 - 1
1-23191382-C-T c.980C>T p.A327V Missense 5/16 - 2
1-23191385-C-A c.983C>A p.P328H Missense 5/16 - 1
1-23191385-C-T c.983C>T p.P328L Missense 5/16 - 1
1-23191386-C-A c.984C>A p.P328= Synonymous 5/16 - 1
1-23191387-C-T c.985C>T p.Q329* Nonsense 5/16 - 2
1-23191389-G-A c.987G>A p.Q329= Synonymous 5/16 - 3
1-23191393-GTG-ATC c.991_993delinsATC p.V331I Missense 5/16 - 1
1-23191399-T-C c.997T>C p.S333P Missense 5/16 - 1
1-23191400-C-T c.998C>T p.S333F Missense 5/16 - 1
1-23191401-C-T c.999C>T p.S333= Synonymous 5/16 - 3
1-23191406-T-A c.1004T>A p.V335D Missense 5/16 - 1
1-23191406-T-G c.1004T>G p.V335G Missense 5/16 - 1
1-23191407-C-T c.1005C>T p.V335= Synonymous 5/16 - 1
1-23191411-G-A c.1009G>A p.E337K Missense 5/16 - 1
1-23191413-G-C c.1011G>C p.E337D Missense 5/16 - 2
1-23191413-G-T c.1011G>T p.E337D Missense 5/16 - 1
1-23191414-A-T c.1012A>T p.T338S Missense 5/16 - 1
1-23191415-CC-TG c.1013_1014delinsTG p.T338M Missense 5/16 - 1
1-23191415-C-G c.1013C>G p.T338S Missense 5/16 - 1
1-23191415-C-T c.1013C>T p.T338I Missense 5/16 - 1
1-23191416-C-T c.1014C>T p.T338= Synonymous 5/16 - 1
1-23191417-T-C c.1015T>C p.S339P Missense 5/16 - 1
1-23191418-C-T c.1016C>T p.S339F Missense 5/16 - 2
1-23191419-C-T c.1017C>T p.S339= Synonymous 5/16 - 2
1-23191423-A-G c.1021A>G p.M341V Missense 5/16 - 1
1-23191423-CA-C c.1021del p.M341Cfs*46 Frameshift 5/16 - 1
1-23191427-T-A c.1025T>A p.L342Q Missense 5/16 - 2
1-23191428-G-A c.1026G>A p.L342= Synonymous 5/16 - 1
1-23191429-G-A c.1027G>A p.E343K Missense 5/16 - 5
1-23191430-A-G c.1028A>G p.E343G Missense 5/16 - 1
1-23191433-G-T c.1031G>T p.W344L Missense 5/16 - 1
1-23191435-A-G c.1033A>G p.T345A Missense 5/16 - 1
1-23191437-C-T c.1035C>T p.T345= Synonymous 5/16 - 1
1-23191442-C-A c.1040C>A p.P347H Missense 5/16 - 1
1-23191443-C-A c.1041C>A p.P347= Synonymous 5/16 - 1
1-23191443-C-G c.1041C>G p.P347= Synonymous 5/16 - 1
1-23191443-C-T c.1041C>T p.P347= Synonymous 5/16 - 4
1-23191444-C-T c.1042C>T p.R348C Missense 5/16 - 1
1-23191445-G-A c.1043G>A p.R348H Missense 5/16 - 5
1-23191446-C-A c.1044C>A p.R348= Synonymous 5/16 - 2
1-23191446-C-G c.1044C>G p.R348= Synonymous 5/16 - 2
1-23191446-C-T c.1044C>T p.R348= Synonymous 5/16 - 3
1-23191451-C-T c.1049C>T p.S350F Missense 5/16 - 1
1-23191453-G-A c.1051G>A p.G351R Missense 5/16 - 1
1-23191454-G-A c.1052G>A p.G351E Missense 5/16 - 4
1-23191454-G-T c.1052G>T p.G351V Missense 5/16 - 2
1-23191457-G-T c.1055G>T p.G352V Missense 5/16 - 1
1-23191459-C-T c.1057C>T p.R353* Nonsense 5/16 - 2
1-23191460-G-A c.1058G>A p.R353Q Missense 5/16 - 1
1-23191465-G-A c.1063G>A p.D355N Missense 5/16 - 1
1-23191470-C-A c.1068C>A p.L356= Synonymous 5/16 - 1
1-23191470-C-G c.1068C>G p.L356= Synonymous 5/16 - 1
1-23191470-C-T c.1068C>T p.L356= Synonymous 5/16 - 2
1-23191471-G-A c.1069G>A p.V357I Missense 5/16 - 10
1-23191475-A-G c.1073A>G p.Y358C Missense 5/16 - 1
1-23191482-C-A c.1080C>A p.I360= Synonymous 5/16 - 1
1-23191482-C-T c.1080C>T p.I360= Synonymous 5/16 - 1
1-23191483-A-G c.1081A>G p.I361V Missense 5/16 - 10
1-23191488-C-T c.1086C>T p.C362= Synonymous 5/16 - 2
1-23191490-A-AG c.1089dup p.S364Efs*34 Frameshift 5/16 - 1
1-23191504-GGCCGGGGTGCCTGCACCCGCT-G c.1105_1125del p.R369_C375del InFrameDeletion 5/16 - 1
1-23191507-C-T c.1105C>T p.R369W Missense 5/16 - 3
1-23191508-G-A c.1106G>A p.R369Q Missense 5/16 - 7
1-23191508-G-C c.1106G>C p.R369P Missense 5/16 - 1
1-23191508-GG-AT c.1106_1107delinsAT p.R369H Missense 5/16 - 1
1-23191514-C-T c.1112C>T p.A371V Missense 5/16 - 1
1-23191516-T-C c.1114T>C p.C372R Missense 5/16 - 1
1-23191521-C-A c.1119C>A p.T373= Synonymous 5/16 - 1
1-23191521-C-G c.1119C>G p.T373= Synonymous 5/16 - 1
1-23191521-C-T c.1119C>T p.T373= Synonymous 5/16 - 1
1-23191522-C-A c.1120C>A p.R374S Missense 5/16 - 1
1-23191522-C-T c.1120C>T p.R374C Missense 5/16 - 1
1-23191523-G-A c.1121G>A p.R374H Missense 5/16 - 1
1-23191524-C-T c.1122C>T p.R374= Synonymous 5/16 - 1
1-23191528-G-A c.1126G>A p.G376R Missense 5/16 - 2
1-23191529-G-C c.1127G>C p.G376A Missense 5/16 - 4
1-23191534-AA-CC c.1132_1133delinsCC p.N378P Missense 5/16 - 1
1-23191535-A-G c.1133A>G p.N378S Missense 5/16 - 1
1-23191536-T-G c.1134T>G p.N378K Missense 5/16 - 1
1-23191538-T-C c.1136T>C p.V379A Missense 5/16 - 3
1-23191546-G-A c.1144G>A p.A382T Missense 5/16 - 2
1-23191553-G-A c.1151G>A p.R384H Missense 5/16 - 2
1-23191557-G-C c.1155G>C p.Q385H Missense 5/16 - 1
1-23191557-G-T c.1155G>T p.Q385H Missense 5/16 - 1
1-23191558-C-G c.1156C>G p.L386V Missense 5/16 - 1
1-23191563-C-T c.1161C>T p.G387= Synonymous 5/16 - 1
1-23191569-C-A c.1167C>A p.T389= Synonymous 5/16 - 1
1-23191569-C-G c.1167C>G p.T389= Synonymous 5/16 - 1
1-23191569-C-T c.1167C>T p.T389= Synonymous 5/16 - 2
1-23191570-G-A c.1168G>A p.E390K Missense 5/16 - 1
1-23191570-G-T c.1168G>T p.E390* Nonsense 5/16 - 4
1-23191576-C-T c.1174C>T p.R392C Missense 5/16 - 2
1-23191577-G-A c.1175G>A p.R392H Missense 5/16 - 10
1-23191577-GC-AA c.1175_1176delinsAA p.R392Q Missense 5/16 - 2
1-23191581-T-C c.1179T>C p.I393= Synonymous 5/16 - 1
1-23191588-A-G c.1186A>G p.S396G Missense 5/16 - 1
1-23191601-C-T c.1199C>T p.A400V Missense 5/16 - 1
1-23191603-C-A c.1201C>A p.H401N Missense 5/16 - 3
1-23191605-C-A c.1203C>A p.H401Q Missense 5/16 - 1
1-23191605-C-G c.1203C>G p.H401Q Missense 5/16 - 1
1-23191609-C-A c.1207C>A p.Q403K Missense 5/16 - 2
1-23191609-C-T c.1207C>T p.Q403* Nonsense 5/16 - 1
1-23191610-A-C c.1208A>C p.Q403P Missense 5/16 - 1
1-23191613-A-G c.1211A>G p.Y404C Missense 5/16 - 1
1-23191621-G-A c.1219G>A p.E407K Missense 5/16 - 1
1-23191621-G-C c.1219G>C p.E407Q Missense 5/16 - 1
1-23191626-C-T c.1224C>T p.I408= Synonymous 5/16 - 1
1-23191629-G-C c.1227G>C p.Q409H Missense 5/16 - 1
1-23191629-G-T c.1227G>T p.Q409H Missense 5/16 - 1
1-23191630-G-A c.1228G>A p.A410T Missense 5/16 - 3
1-23191638-C-T c.1236C>T p.N412= Synonymous 5/16 - 2
1-23191639-G-A c.1237G>A p.G413S Missense 5/16 - 1
1-23191640-G-A c.1238G>A p.G413D Missense 5/16 - 2
1-23191642-G-A c.1240G>A p.V414I Missense 5/16 - 2
1-23191648-G-A c.1246G>A p.D416N Missense 5/16 - 1
1-23191648-G-C c.1246G>C p.D416H Missense 5/16 - 1
1-23191648-G-T c.1246G>T p.D416Y Missense 5/16 - 3
1-23191650-C-G c.1248C>G p.D416E Missense 5/16 - 1
1-23191653-G-C c.1251G>C p.Q417H Missense 5/16 - 1
1-23191656-C-T c.1254C>T p.S418= Synonymous 5/16 - 1
1-23191657-C-T c.1255C>T p.P419S Missense 5/16 - 3
1-23191658-C-A c.1256C>A p.P419H Missense 5/16 - 1
1-23191658-C-T c.1256C>T p.P419L Missense 5/16 - 1
1-23191659-C-T c.1257C>T p.P419= Synonymous 5/16 - 1
1-23191664-C-G c.1262C>G p.S421W Missense 5/16 - 1
1-23191664-C-T c.1262C>T p.S421L Missense 5/16 - 1
1-23191665-G-A c.1263G>A p.S421= Synonymous 5/16 - 3
1-23191665-G-C c.1263G>C p.S421= Synonymous 5/16 - 3
1-23191665-G-T c.1263G>T p.S421= Synonymous 5/16 - 3
1-23191670-A-C c.1268A>C p.Q423P Missense 5/16 - 1
1-23191674-C-T c.1272C>T p.F424= Synonymous 5/16 - 4
1-23191675-G-A c.1273G>A p.A425T Missense 5/16 - 1
1-23191678-T-A c.1276T>A p.S426T Missense 5/16 - 1
1-23191679-C-G c.1277C>G p.S426C Missense 5/16 - 7
1-23191679-C-T c.1277C>T p.S426F Missense 5/16 - 1
1-23191680-T-A c.1278T>A p.S426= Synonymous 5/16 - 1
1-23191680-T-C c.1278T>C p.S426= Synonymous 5/16 - 1
1-23191680-T-G c.1278T>G p.S426= Synonymous 5/16 - 1
1-23191689-C-T c.1287C>T p.I429= Synonymous 5/16 - 1
1-23191692-C-T c.1290C>T p.T430= Synonymous 5/16 - 2
1-23191693-A-G c.1291A>G p.T431A Missense 5/16 - 1
1-23191697-A-G c.1295A>G p.N432S Missense 5/16 - 1
1-23191701-G-C c.1299G>C p.Q433H Missense 5/16 - 1
1-23191701-G-T c.1299G>T p.Q433H Missense 5/16 - 1
1-23191718-G-A c.1303+13G>A - IntronicSNV - 5/15 1
1-23191720-C-G c.1303+15C>G - IntronicSNV - 5/15 1
1-23191746-G-A c.1303+41G>A - IntronicSNV - 5/15 1
1-23191746-G-T c.1303+41G>T - IntronicSNV - 5/15 2
1-23199949-A-G c.1303+8244A>G - IntronicSNV - 5/15 1
1-23200159-G-A c.1303+8454G>A - IntronicSNV - 5/15 1
1-23206684-A-G c.1304-2168A>G - IntronicSNV - 5/15 1
1-23208720-C-G c.1304-132C>G - IntronicSNV - 5/15 1
1-23208852-C-T c.1304C>T p.A435V Missense 6/16 - 1
1-23208854-C-T c.1306C>T p.P436S Missense 6/16 - 2
1-23208857-T-C c.1309T>C p.S437P Missense 6/16 - 1
1-23208858-C-T c.1310C>T p.S437L Missense 6/16 - 3
1-23208860-G-A c.1312G>A p.A438T Missense 6/16 - 2
1-23208863-G-T c.1315G>T p.V439L Missense 6/16 - 1
1-23208864-GT-G c.1316del p.V439Gfs*7 Frameshift 6/16 - 1
1-23208864-T-C c.1316T>C p.V439A Missense 6/16 - 2
1-23208870-T-A c.1322T>A p.I441N Missense 6/16 - 1
1-23208876-A-G c.1328A>G p.H443R Missense 6/16 - 1
1-23208884-A-T c.1336A>T p.S446C Missense 6/16 - 1
1-23208885-G-A c.1337G>A p.S446N Missense 6/16 - 2
1-23208887-C-T c.1339C>T p.R447C Missense 6/16 - 4
1-23208888-G-A c.1340G>A p.R447H Missense 6/16 - 3
1-23208891-C-T c.1343C>T p.T448I Missense 6/16 - 1
1-23208893-G-A c.1345G>A p.V449M Missense 6/16 - 4
1-23208893-GTG-ATC c.1345_1347delinsATC p.V449I Missense 6/16 - 1
1-23208895-G-A c.1347G>A p.V449= Synonymous 6/16 - 2
1-23208902-A-G c.1354A>G p.I452V Missense 6/16 - 1
1-23208908-CTG-TTT c.1360_1362delinsTTT p.L454F Missense 6/16 - 1
1-23208912-C-T c.1364C>T p.S455L Missense 6/16 - 2
1-23208913-G-A c.1365G>A p.S455= Synonymous 6/16 - 1
1-23208916-G-A c.1368G>A p.W456* Nonsense 6/16 - 1
1-23208918-C-T c.1370C>T p.S457F Missense 6/16 - 4
1-23208919-C-T c.1371C>T p.S457= Synonymous 6/16 - 3
1-23208921-A-G c.1373A>G p.Q458R Missense 6/16 - 1
1-23208922-G-A c.1374G>A p.Q458= Synonymous 6/16 - 1
1-23208922-G-C c.1374G>C p.Q458H Missense 6/16 - 1
1-23208924-C-T c.1376C>T p.P459L Missense 6/16 - 2
1-23208925-G-A c.1377G>A p.P459= Synonymous 6/16 - 13
1-23208925-G-C c.1377G>C p.P459= Synonymous 6/16 - 8
1-23208925-G-T c.1377G>T p.P459= Synonymous 6/16 - 8
1-23208926-G-A c.1378G>A p.D460N Missense 6/16 - 1
1-23208931-G-A c.1383G>A p.Q461= Synonymous 6/16 - 4
1-23208933-C-T c.1385C>T p.P462L Missense 6/16 - 1
1-23208938-G-A c.1390G>A p.G464S Missense 6/16 - 3
1-23208939-G-A c.1391G>A p.G464D Missense 6/16 - 1
1-23208941-G-A c.1393G>A p.V465M Missense 6/16 - 4
1-23208941-G-C c.1393G>C p.V465L Missense 6/16 - 1
1-23208941-G-T c.1393G>T p.V465L Missense 6/16 - 1
1-23208943-G-A c.1395G>A p.V465= Synonymous 6/16 - 3
1-23208946-C-T c.1398C>T p.I466= Synonymous 6/16 - 2
1-23208947-C-T c.1399C>T p.L467= Synonymous 6/16 - 1
1-23208953-T-A c.1405T>A p.Y469N Missense 6/16 - 1
1-23208959-C-A c.1411C>A p.L471M Missense 6/16 - 1
1-23208968-T-C c.1420T>C p.Y474H Missense 6/16 - 2
1-23208971-G-A c.1423G>A p.E475K Missense 6/16 - 2
1-23209038-G-C c.1428+62G>C - IntronicSNV - 6/15 1
1-23209061-C-T c.1428+85C>T - IntronicSNV - 6/15 1
1-23209278-C-T c.1428+302C>T - IntronicSNV - 6/15 4
1-23210282-G-A c.1428+1306G>A - IntronicSNV - 6/15 1
1-23210282-G-C c.1428+1306G>C - IntronicSNV - 6/15 1
1-23210282-G-T c.1428+1306G>T - IntronicSNV - 6/15 1
1-23210600-C-T c.1428+1624C>T - IntronicSNV - 6/15 2
1-23210817-A-G c.1428+1841A>G - IntronicSNV - 6/15 1
1-23216699-G-A c.1429-2678G>A - IntronicSNV - 6/15 1
1-23216712-T-A c.1429-2665T>A - IntronicSNV - 6/15 8
1-23216712-T-C c.1429-2665T>C - IntronicSNV - 6/15 8
1-23217519-G-A c.1429-1858G>A - IntronicSNV - 6/15 1
1-23217519-G-C c.1429-1858G>C - IntronicSNV - 6/15 1
1-23217561-G-A c.1429-1816G>A - IntronicSNV - 6/15 1
1-23219187-C-T c.1429-190C>T - IntronicSNV - 6/15 5
1-23219377-G-A c.1429G>A p.E477K Missense 7/16 - 3
1-23219394-C-T c.1446C>T p.N482= Synonymous 7/16 - 1
1-23219395-G-A c.1447G>A p.A483T Missense 7/16 - 1
1-23219402-C-A c.1454C>A p.A485D Missense 7/16 - 1
1-23219402-C-T c.1454C>T p.A485V Missense 7/16 - 1
1-23219407-A-G c.1459A>G p.K487E Missense 7/16 - 1
1-23219408-A-G c.1460A>G p.K487R Missense 7/16 - 1
1-23219411-G-C c.1463G>C p.S488T Missense 7/16 - 1
1-23219413-C-T c.1465C>T p.P489S Missense 7/16 - 2
1-23219414-C-T c.1466C>T p.P489L Missense 7/16 - 1
1-23219415-C-A c.1467C>A p.P489= Synonymous 7/16 - 1
1-23219415-C-T c.1467C>T p.P489= Synonymous 7/16 - 1
1-23219417-C-A c.1469C>A p.T490N Missense 7/16 - 1
1-23219417-CC-TG c.1469_1470delinsTG p.T490M Missense 7/16 - 1
1-23219418-C-A c.1470C>A p.T490= Synonymous 7/16 - 1
1-23219418-C-G c.1470C>G p.T490= Synonymous 7/16 - 1
1-23219418-C-T c.1470C>T p.T490= Synonymous 7/16 - 1
1-23219420-A-T c.1472A>T p.N491I Missense 7/16 - 1
1-23219423-C-A c.1475C>A p.T492K Missense 7/16 - 1
1-23219430-C-T c.1482C>T p.T494= Synonymous 7/16 - 4
1-23219431-G-A c.1483G>A p.V495M Missense 7/16 - 6
1-23219438-G-T c.1490G>T p.G497V Missense 7/16 - 1
1-23219439-C-A c.1491C>A p.G497= Synonymous 7/16 - 1
1-23219446-G-A c.1498G>A p.A500T Missense 7/16 - 1
1-23219448-C-A c.1500C>A p.A500= Synonymous 7/16 - 1
1-23219448-C-G c.1500C>G p.A500= Synonymous 7/16 - 1
1-23219448-C-T c.1500C>T p.A500= Synonymous 7/16 - 1
1-23219449-G-A c.1501G>A p.G501S Missense 7/16 - 4
1-23219449-GGC-TGA c.1501_1503delinsTGA p.G501* Nonsense 7/16 - 1
1-23219449-G-T c.1501G>T p.G501C Missense 7/16 - 1
1-23219451-C-T c.1503C>T p.G501= Synonymous 7/16 - 1
1-23219452-G-A c.1504G>A p.A502T Missense 7/16 - 4
1-23219457-C-A c.1509C>A p.I503= Synonymous 7/16 - 1
1-23219457-C-T c.1509C>T p.I503= Synonymous 7/16 - 1
1-23219459-A-C c.1511A>C p.Y504S Missense 7/16 - 1
1-23219461-G-T c.1513G>T p.V505F Missense 7/16 - 1
1-23219462-T-G c.1514T>G p.V505G Missense 7/16 - 1
1-23219466-C-T c.1518C>T p.F506= Synonymous 7/16 - 1
1-23219465-TC-T c.1519del p.Q507Rfs*22 Frameshift 7/16 - 1
1-23219467-C-T c.1519C>T p.Q507* Nonsense 7/16 - 1
1-23219468-CA-C c.1520del p.Q507Rfs*22 Frameshift 7/16 - 2
1-23219469-G-C c.1521G>C p.Q507H Missense 7/16 - 1
1-23219473-C-T c.1525C>T p.R509W Missense 7/16 - 6
1-23219473-CG-C c.1528del p.A510Hfs*19 Frameshift 7/16 - 1
1-23219479-C-T c.1531C>T p.R511C Missense 7/16 - 3
1-23219480-G-A c.1532G>A p.R511H Missense 7/16 - 2
1-23219482-A-T c.1534A>T p.T512S Missense 7/16 - 1
1-23219483-C-G c.1535C>G p.T512S Missense 7/16 - 1
1-23219483-C-T c.1535C>T p.T512I Missense 7/16 - 2
1-23219486-T-G c.1538T>G p.V513G Missense 7/16 - 1
1-23219488-G-T c.1540G>T p.A514S Missense 7/16 - 3
1-23219489-C-A c.1541C>A p.A514E Missense 7/16 - 1
1-23219491-G-A c.1543G>A p.G515S Missense 7/16 - 1
1-23219493-T-A c.1545T>A p.G515= Synonymous 7/16 - 23
1-23219493-T-C c.1545T>C p.G515= Synonymous 7/16 - 23
1-23219493-T-G c.1545T>G p.G515= Synonymous 7/16 - 17
1-23219496-C-T c.1548C>T p.Y516= Synonymous 7/16 - 1
1-23219497-G-A c.1549G>A p.G517R Missense 7/16 - 6
1-23219497-G-C c.1549G>C p.G517R Missense 7/16 - 5
1-23219498-G-A c.1550G>A p.G517E Missense 7/16 - 1
1-23219500-C-T c.1552C>T p.R518C Missense 7/16 - 7
1-23219501-G-A c.1553G>A p.R518H Missense 7/16 - 5
1-23219509-G-A c.1561G>A p.G521S Missense 7/16 - 3
1-23219510-G-A c.1562G>A p.G521D Missense 7/16 - 1
1-23219515-A-T c.1567A>T p.M523L Missense 7/16 - 2
1-23219517-G-A c.1569G>A p.M523I Missense 7/16 - 1
1-23219519-A-C c.1571A>C p.Y524S Missense 7/16 - 1
1-23219522-TC-AA c.1574_1575delinsAA p.F525* Nonsense 7/16 - 1
1-23219523-C-G c.1575C>G p.F525L Missense 7/16 - 3
1-23219523-C-T c.1575C>T p.F525= Synonymous 7/16 - 2
1-23219524-C-T c.1576C>T p.Q526* Nonsense 7/16 - 1
1-23219532-G-A c.1584G>A p.M528I Missense 7/16 - 2
1-23219539-G-A c.1591G>A p.A531T Missense 7/16 - 2
1-23219540-G-T c.1591+1G>T - IntronicSNV - 7/15 1
1-23219633-T-C c.1591+94T>C - IntronicSNV - 7/15 1
1-23221655-C-T c.1592-310C>T - IntronicSNV - 7/15 1
1-23221855-A-G c.1592-110A>G - IntronicSNV - 7/15 1
1-23221972-C-G c.1599C>G p.Y533* Nonsense 8/16 - 1
1-23221977-C-T c.1604C>T p.T535I Missense 8/16 - 1
1-23221985-C-T c.1612C>T p.Q538* Nonsense 8/16 - 1
1-23221988-G-A c.1615G>A p.E539K Missense 8/16 - 1
1-23222000-C-T c.1627C>T p.L543F Missense 8/16 - 8
1-23222003-A-G c.1630A>G p.I544V Missense 8/16 - 1
1-23222010-G-C c.1637G>C p.G546A Missense 8/16 - 1
1-23222011-C-A c.1638C>A p.G546= Synonymous 8/16 - 1
1-23222014-C-T c.1641C>T p.S547= Synonymous 8/16 - 1
1-23222020-C-T c.1647C>T p.A549= Synonymous 8/16 - 2
1-23222021-G-A c.1648G>A p.A550T Missense 8/16 - 1
1-23222023-T-A c.1650T>A p.A550= Synonymous 8/16 - 1
1-23222023-T-C c.1650T>C p.A550= Synonymous 8/16 - 1
1-23222023-T-G c.1650T>G p.A550= Synonymous 8/16 - 1
1-23222025-G-A c.1652G>A p.G551D Missense 8/16 - 1
1-23222027-C-A c.1654C>A p.L552M Missense 8/16 - 1
1-23222027-C-T c.1654C>T p.L552= Synonymous 8/16 - 1
1-23222035-C-T c.1662C>T p.F554= Synonymous 8/16 - 1
1-23222040-T-A c.1667T>A p.I556N Missense 8/16 - 1
1-23222042-G-A c.1669G>A p.A557T Missense 8/16 - 1
1-23222043-C-T c.1670C>T p.A557V Missense 8/16 - 2
1-23222044-T-A c.1671T>A p.A557= Synonymous 8/16 - 3
1-23222044-T-C c.1671T>C p.A557= Synonymous 8/16 - 1
1-23222044-T-G c.1671T>G p.A557= Synonymous 8/16 - 1
1-23222049-T-A c.1676T>A p.V559D Missense 8/16 - 3
1-23222049-T-G c.1676T>G p.V559G Missense 8/16 - 3
1-23222052-T-G c.1679T>G p.V560G Missense 8/16 - 1
1-23222057-G-A c.1684G>A p.A562T Missense 8/16 - 1
1-23222062-C-T c.1689C>T p.I563= Synonymous 8/16 - 2
1-23222063-G-A c.1690G>A p.V564M Missense 8/16 - 1
1-23222063-GTG-TTT c.1690_1692delinsTTT p.V564F Missense 8/16 - 1
1-23222072-A-G c.1699A>G p.R567G Missense 8/16 - 1
1-23222074-G-A c.1700+1G>A - IntronicSNV - 8/15 2
1-23222083-G-C c.1700+10G>C - IntronicSNV - 8/15 1
1-23222832-C-T c.1701-75C>T - IntronicSNV - 8/15 1
1-23222908-CGG-TGT c.1702_1704delinsTGT p.R568C Missense 9/16 - 1
1-23222908-C-T c.1702C>T p.R568W Missense 9/16 - 11
1-23222912-G-A c.1706G>A p.G569E Missense 9/16 - 2
1-23222912-GG-AC c.1706_1707delinsAC p.G569D Missense 9/16 - 1
1-23222920-C-T c.1714C>T p.R572C Missense 9/16 - 1
1-23222921-G-A c.1715G>A p.R572H Missense 9/16 - 3
1-23222924-C-T c.1718C>T p.A573V Missense 9/16 - 1
1-23222928-C-T c.1722C>T p.D574= Synonymous 9/16 - 3
1-23222930-C-A c.1724C>A p.S575* Nonsense 9/16 - 1
1-23222930-C-T c.1724C>T p.S575L Missense 9/16 - 3
1-23222931-G-A c.1725G>A p.S575= Synonymous 9/16 - 3
1-23222931-G-C c.1725G>C p.S575= Synonymous 9/16 - 1
1-23222931-G-T c.1725G>T p.S575= Synonymous 9/16 - 1
1-23222932-G-A c.1726G>A p.E576K Missense 9/16 - 3
1-23222936-A-G c.1730A>G p.Y577C Missense 9/16 - 1
1-23222939-C-T c.1733C>T p.T578M Missense 9/16 - 4
1-23222940-G-A c.1734G>A p.T578= Synonymous 9/16 - 6
1-23222940-G-C c.1734G>C p.T578= Synonymous 9/16 - 2
1-23222940-G-T c.1734G>T p.T578= Synonymous 9/16 - 2
1-23222941-G-A c.1735G>A p.D579N Missense 9/16 - 1
1-23222941-G-T c.1735G>T p.D579Y Missense 9/16 - 1
1-23222953-C-T c.1747C>T p.H583Y Missense 9/16 - 1
1-23222954-A-G c.1748A>G p.H583R Missense 9/16 - 2
1-23222955-C-A c.1749C>A p.H583Q Missense 9/16 - 1
1-23222958-C-T c.1752C>T p.Y584= Synonymous 9/16 - 1
1-23222960-C-T c.1754C>T p.T585I Missense 9/16 - 1
1-23222961-C-T c.1755C>T p.T585= Synonymous 9/16 - 1
1-23222966-G-A c.1760G>A p.G587D Missense 9/16 - 2
1-23222968-C-G c.1762C>G p.H588D Missense 9/16 - 1
1-23222968-C-T c.1762C>T p.H588Y Missense 9/16 - 1
1-23223116-C-T c.1765+145C>T - IntronicSNV - 9/15 6
1-23227166-G-A c.1765+4195G>A - IntronicSNV - 9/15 1
1-23232400-C-T c.1766-80C>T - IntronicSNV - 9/15 3
1-23232416-C-T c.1766-64C>T - IntronicSNV - 9/15 1
1-23232471-G-T c.1766-9G>T - IntronicSNV - 9/15 1
1-23232476-C-G c.1766-4C>G - IntronicSNV - 9/15 1
1-23232476-C-T c.1766-4C>T - IntronicSNV - 9/15 1
1-23232485-C-T c.1771C>T p.P591S Missense 10/16 - 2
1-23232488-G-A c.1774G>A p.G592S Missense 10/16 - 1
1-23232489-G-A c.1775G>A p.G592D Missense 10/16 - 4
1-23232489-G-T c.1775G>T p.G592V Missense 10/16 - 2
1-23232490-C-T c.1776C>T p.G592= Synonymous 10/16 - 1
1-23232492-T-C c.1778T>C p.M593T Missense 10/16 - 1
1-23232496-G-A c.1782G>A p.K594= Synonymous 10/16 - 1
1-23232499-C-G c.1785C>G p.I595M Missense 10/16 - 1
1-23232501-A-T c.1787A>T p.Y596F Missense 10/16 - 1
1-23232505-C-A c.1791C>A p.I597= Synonymous 10/16 - 2
1-23232505-C-T c.1791C>T p.I597= Synonymous 10/16 - 5
1-23232506-G-A c.1792G>A p.D598N Missense 10/16 - 4
1-23232509-C-T c.1795C>T p.P599S Missense 10/16 - 3
1-23232510-C-T c.1796C>T p.P599L Missense 10/16 - 1
1-23232511-T-A c.1797T>A p.P599= Synonymous 10/16 - 1
1-23232511-T-C c.1797T>C p.P599= Synonymous 10/16 - 1
1-23232511-T-G c.1797T>G p.P599= Synonymous 10/16 - 1
1-23232515-A-C c.1801A>C p.T601P Missense 10/16 - 1
1-23232516-C-T c.1802C>T p.T601I Missense 10/16 - 1
1-23232519-A-G c.1805A>G p.Y602C Missense 10/16 - 1
1-23232519-A-T c.1805A>T p.Y602F Missense 10/16 - 3
1-23232520-C-T c.1806C>T p.Y602= Synonymous 10/16 - 1
1-23232521-G-A c.1807G>A p.E603K Missense 10/16 - 1
1-23232527-C-T c.1813C>T p.P605S Missense 10/16 - 2
1-23232531-A-T c.1817A>T p.N606I Missense 10/16 - 1
1-23232533-G-A c.1819G>A p.E607K Missense 10/16 - 8
1-23232536-G-A c.1822G>A p.A608T Missense 10/16 - 1
1-23232537-C-T c.1823C>T p.A608V Missense 10/16 - 1
1-23232538-A-C c.1824A>C p.A608= Synonymous 10/16 - 1
1-23232538-A-G c.1824A>G p.A608= Synonymous 10/16 - 1
1-23232538-A-T c.1824A>T p.A608= Synonymous 10/16 - 1
1-23232542-C-T c.1828C>T p.R610W Missense 10/16 - 6
1-23232543-G-A c.1829G>A p.R610Q Missense 10/16 - 1
1-23232543-G-T c.1829G>T p.R610L Missense 10/16 - 1
1-23232545-G-A c.1831G>A p.E611K Missense 10/16 - 2
1-23232552-C-T c.1838C>T p.A613V Missense 10/16 - 1
1-23232555-A-G c.1841A>G p.K614R Missense 10/16 - 1
1-23232556-G-A c.1842G>A p.K614= Synonymous 10/16 - 1
1-23232557-G-A c.1843G>A p.E615K Missense 10/16 - 7
1-23232563-G-A c.1849G>A p.D617N Missense 10/16 - 2
1-23232564-A-G c.1850A>G p.D617G Missense 10/16 - 1
1-23232566-A-T c.1852A>T p.I618F Missense 10/16 - 1
1-23232567-T-A c.1853T>A p.I618N Missense 10/16 - 2
1-23232572-T-C c.1858T>C p.C620R Missense 10/16 - 3
1-23232573-G-T c.1859G>T p.C620F Missense 10/16 - 1
1-23232575-G-A c.1861G>A p.V621I Missense 10/16 - 1
1-23232575-G-T c.1861G>T p.V621F Missense 10/16 - 1
1-23232587-C-T c.1873C>T p.Q625* Nonsense 10/16 - 1
1-23232590-G-A c.1876G>A p.V626M Missense 10/16 - 1
1-23232591-T-C c.1877T>C p.V626A Missense 10/16 - 2
1-23232594-T-C c.1880T>C p.I627T Missense 10/16 - 1
1-23232595-C-A c.1881C>A p.I627= Synonymous 10/16 - 1
1-23232595-C-T c.1881C>T p.I627= Synonymous 10/16 - 2
1-23232596-G-A c.1882G>A p.G628R Missense 10/16 - 1
1-23232597-G-A c.1883G>A p.G628E Missense 10/16 - 1
1-23232597-G-C c.1883G>C p.G628A Missense 10/16 - 1
1-23232600-C-G c.1886C>G p.A629G Missense 10/16 - 1
1-23232611-C-T c.1888+9C>T - IntronicSNV - 10/15 1
1-23232869-G-C c.1888+267G>C - IntronicSNV - 10/15 3
1-23233203-G-A c.1889G>A p.G630E Missense 11/16 - 1
1-23233205-G-C c.1891G>C p.E631Q Missense 11/16 - 1
1-23233211-G-A c.1897G>A p.G633S Missense 11/16 - 1
1-23233213-C-T c.1899C>T p.G633= Synonymous 11/16 - 1
1-23233214-G-A c.1900G>A p.E634K Missense 11/16 - 4
1-23233217-G-C c.1903G>C p.V635L Missense 11/16 - 1
1-23233223-A-T c.1909A>T p.S637C Missense 11/16 - 1
1-23233224-G-A c.1910G>A p.S637N Missense 11/16 - 1
1-23233227-G-A c.1913G>A p.G638D Missense 11/16 - 2
1-23233232-C-T c.1918C>T p.L640= Synonymous 11/16 - 2
1-23233234-G-A c.1920G>A p.L640= Synonymous 11/16 - 5
1-23233234-G-C c.1920G>C p.L640= Synonymous 11/16 - 2
1-23233234-G-T c.1920G>T p.L640= Synonymous 11/16 - 2
1-23233237-G-A c.1923G>A p.K641= Synonymous 11/16 - 2
1-23233238-C-T c.1924C>T p.L642= Synonymous 11/16 - 1
1-23233240-G-A c.1926G>A p.L642= Synonymous 11/16 - 2
1-23233240-G-C c.1926G>C p.L642= Synonymous 11/16 - 1
1-23233240-G-T c.1926G>T p.L642= Synonymous 11/16 - 1
1-23233241-C-A c.1927C>A p.P643T Missense 11/16 - 2
1-23233241-C-G c.1927C>G p.P643A Missense 11/16 - 1
1-23233244-G-T c.1930G>T p.G644C Missense 11/16 - 1
1-23233245-G-T c.1931G>T p.G644V Missense 11/16 - 1
1-23233248-A-G c.1934A>G p.K645R Missense 11/16 - 1
1-23233251-G-A c.1937G>A p.R646K Missense 11/16 - 1
1-23233263-T-C c.1949T>C p.V650A Missense 11/16 - 2
1-23233271-AA-GC c.1957_1958delinsGC p.K653A Missense 11/16 - 1
1-23233272-A-T c.1958A>T p.K653M Missense 11/16 - 1
1-23233274-A-G c.1960A>G p.T654A Missense 11/16 - 1
1-23233275-C-T c.1961C>T p.T654M Missense 11/16 - 2
1-23233280-CAA-C c.1966_1967del p.K656Vfs*90 Frameshift 11/16 - 2
1-23233281-A-C c.1967A>C p.K656T Missense 11/16 - 1
1-23233284-C-T c.1970C>T p.S657L Missense 11/16 - 3
1-23233285-G-A c.1971G>A p.S657= Synonymous 11/16 - 1
1-23233285-G-C c.1971G>C p.S657= Synonymous 11/16 - 1
1-23233285-G-T c.1971G>T p.S657= Synonymous 11/16 - 2
1-23233286-G-T c.1972G>T p.G658C Missense 11/16 - 1
1-23233289-T-G c.1975T>G p.Y659D Missense 11/16 - 1
1-23233293-C-T c.1979C>T p.T660M Missense 11/16 - 3
1-23233294-G-A c.1980G>A p.T660= Synonymous 11/16 - 5
1-23233294-G-C c.1980G>C p.T660= Synonymous 11/16 - 1
1-23233294-G-T c.1980G>T p.T660= Synonymous 11/16 - 1
1-23233295-G-A c.1981G>A p.E661K Missense 11/16 - 1
1-23233303-G-A c.1989G>A p.Q663= Synonymous 11/16 - 1
1-23233304-C-T c.1990C>T p.R664C Missense 11/16 - 3
1-23233305-G-A c.1991G>A p.R664H Missense 11/16 - 3
1-23233305-G-T c.1991G>T p.R664L Missense 11/16 - 2
1-23233306-C-A c.1992C>A p.R664= Synonymous 11/16 - 1
1-23233306-C-G c.1992C>G p.R664= Synonymous 11/16 - 1
1-23233306-C-T c.1992C>T p.R664= Synonymous 11/16 - 1
1-23233307-C-T c.1993C>T p.R665W Missense 11/16 - 3
1-23233308-G-A c.1994G>A p.R665Q Missense 11/16 - 3
1-23233310-G-T c.1996G>T p.D666Y Missense 11/16 - 1
1-23233315-C-A c.2001C>A p.F667L Missense 11/16 - 2
1-23233317-T-C c.2003T>C p.L668P Missense 11/16 - 1
1-23233319-A-G c.2005A>G p.S669G Missense 11/16 - 1
1-23233321-C-T c.2007C>T p.S669= Synonymous 11/16 - 2
1-23233322-G-A c.2008G>A p.E670K Missense 11/16 - 7
1-23233325-G-A c.2011G>A p.A671T Missense 11/16 - 1
1-23233326-C-G c.2012C>G p.A671G Missense 11/16 - 1
1-23233329-C-T c.2015C>T p.S672F Missense 11/16 - 3
1-23233334-A-G c.2020A>G p.M674V Missense 11/16 - 2
1-23233336-G-A c.2022G>A p.M674I Missense 11/16 - 3
1-23233342-G-A c.2028G>A p.Q676= Synonymous 11/16 - 1
1-23233345-C-T c.2031C>T p.F677= Synonymous 11/16 - 4
1-23233346-G-A c.2032G>A p.D678N Missense 11/16 - 11
1-23233346-G-T c.2032G>T p.D678Y Missense 11/16 - 4
1-23233349-C-A c.2035C>A p.H679N Missense 11/16 - 1
1-23233357-C-T c.2043C>T p.N681= Synonymous 11/16 - 3
1-23233358-G-A c.2044G>A p.V682I Missense 11/16 - 7
1-23233360-C-T c.2046C>T p.V682= Synonymous 11/16 - 4
1-23233363-C-T c.2049C>T p.I683= Synonymous 11/16 - 1
1-23233365-A-G c.2051A>G p.H684R Missense 11/16 - 1
1-23233367-C-T c.2053C>T p.L685= Synonymous 11/16 - 1
1-23233369-G-A c.2055G>A p.L685= Synonymous 11/16 - 1
1-23233369-G-C c.2055G>C p.L685= Synonymous 11/16 - 1
1-23233369-G-T c.2055G>T p.L685= Synonymous 11/16 - 1
1-23233372-G-A c.2058G>A p.E686= Synonymous 11/16 - 2
1-23233374-G-A c.2060G>A p.G687D Missense 11/16 - 2
1-23233379-G-A c.2065G>A p.V689M Missense 11/16 - 4
1-23233387-G-C c.2073G>C p.K691N Missense 11/16 - 2
1-23233388-A-T c.2074A>T p.S692C Missense 11/16 - 1
1-23233389-G-A c.2075G>A p.S692N Missense 11/16 - 1
1-23233402-G-A c.2088G>A p.M696I Missense 11/16 - 3
1-23233404-T-A c.2090T>A p.I697N Missense 11/16 - 1
1-23233410-C-T c.2096C>T p.T699I Missense 11/16 - 2
1-23233411-C-A c.2097C>A p.T699= Synonymous 11/16 - 1
1-23233411-C-G c.2097C>G p.T699= Synonymous 11/16 - 1
1-23233411-C-T c.2097C>T p.T699= Synonymous 11/16 - 4
1-23233412-G-A c.2098G>A p.E700K Missense 11/16 - 1
1-23233413-A-T c.2099A>T p.E700V Missense 11/16 - 1
1-23233418-A-C c.2104A>C p.M702L Missense 11/16 - 1
1-23233418-A-T c.2104A>T p.M702L Missense 11/16 - 1
1-23233419-T-A c.2105T>A p.M702K Missense 11/16 - 2
1-23233420-G-A c.2106G>A p.M702I Missense 11/16 - 3
1-23233421-G-A c.2107G>A p.E703K Missense 11/16 - 1
1-23233421-G-T c.2107G>T p.E703* Nonsense 11/16 - 1
1-23233426-T-C c.2112T>C p.N704= Synonymous 11/16 - 1
1-23233431-C-T c.2117C>T p.S706F Missense 11/16 - 1
1-23233435-G-T c.2121G>T p.L707= Synonymous 11/16 - 1
1-23233437-A-T c.2123A>T p.D708V Missense 11/16 - 1
1-23233440-C-T c.2126C>T p.S709F Missense 11/16 - 5
1-23233446-T-A c.2132T>A p.L711H Missense 11/16 - 2
1-23233447-C-T c.2133C>T p.L711= Synonymous 11/16 - 5
1-23233448-C-T c.2134C>T p.R712W Missense 11/16 - 3
1-23233449-G-A c.2135G>A p.R712Q Missense 11/16 - 2
1-23233449-G-T c.2135G>T p.R712L Missense 11/16 - 3
1-23233450-G-A c.2136G>A p.R712= Synonymous 11/16 - 1
1-23233455-G-T c.2136+5G>T - IntronicSNV - 11/15 1
1-23233600-A-G c.2136+150A>G - IntronicSNV - 11/15 2
1-23233600-A-T c.2136+150A>T - IntronicSNV - 11/15 2
1-23234446-C-A c.2137C>A p.Q713K Missense 12/16 - 1
1-23234448-A-G c.2139A>G p.Q713= Synonymous 12/16 - 1
1-23234451-C-T c.2142C>T p.N714= Synonymous 12/16 - 1
1-23234458-C-T c.2149C>T p.Q717* Nonsense 12/16 - 3
1-23234463-C-T c.2154C>T p.F718= Synonymous 12/16 - 1
1-23234465-ACAGTC-A c.2156_2160del p.T719Nfs*26 Frameshift 12/16 - 1
1-23234469-C-G c.2160C>G p.V720= Synonymous 12/16 - 1
1-23234469-C-T c.2160C>T p.V720= Synonymous 12/16 - 1
1-23234473-C-T c.2164C>T p.Q722* Nonsense 12/16 - 4
1-23234476-C-T c.2167C>T p.L723= Synonymous 12/16 - 3
1-23234479-G-T c.2170G>T p.V724L Missense 12/16 - 1
1-23234491-C-T c.2182C>T p.R728W Missense 12/16 - 2
1-23234492-G-A c.2183G>A p.R728Q Missense 12/16 - 1
1-23234499-C-A c.2190C>A p.I730= Synonymous 12/16 - 1
1-23234499-C-T c.2190C>T p.I730= Synonymous 12/16 - 1
1-23234500-G-A c.2191G>A p.A731T Missense 12/16 - 2
1-23234504-C-T c.2195C>T p.A732V Missense 12/16 - 1
1-23234506-G-A c.2197G>A p.G733S Missense 12/16 - 1
1-23234506-G-T c.2197G>T p.G733C Missense 12/16 - 1
1-23234509-A-G c.2200A>G p.M734V Missense 12/16 - 1
1-23234511-G-A c.2202G>A p.M734I Missense 12/16 - 3
1-23234524-G-T c.2215G>T p.D739Y Missense 12/16 - 1
1-23234529-G-A c.2220G>A p.M740I Missense 12/16 - 2
1-23234529-G-C c.2220G>C p.M740I Missense 12/16 - 2
1-23234529-G-T c.2220G>T p.M740I Missense 12/16 - 2
1-23234538-T-A c.2229T>A p.V743= Synonymous 12/16 - 1
1-23234538-T-C c.2229T>C p.V743= Synonymous 12/16 - 1
1-23234538-T-G c.2229T>G p.V743= Synonymous 12/16 - 1
1-23234539-C-T c.2230C>T p.H744Y Missense 12/16 - 2
1-23234541-C-T c.2232C>T p.H744= Synonymous 12/16 - 3
1-23234542-C-T c.2233C>T p.R745C Missense 12/16 - 3
1-23234543-G-A c.2234G>A p.R745H Missense 12/16 - 1
1-23234545-G-A c.2236G>A p.D746N Missense 12/16 - 3
1-23234547-C-T c.2238C>T p.D746= Synonymous 12/16 - 2
1-23234552-C-T c.2243C>T p.A748V Missense 12/16 - 2
1-23234554-G-A c.2245G>A p.A749T Missense 12/16 - 1
1-23234557-CGC-GAG c.2248_2250delinsGAG p.R750E Missense 12/16 - 1
1-23234558-G-A c.2249G>A p.R750H Missense 12/16 - 4
1-23234566-C-T c.2257C>T p.L753F Missense 12/16 - 2
1-23234568-C-T c.2259C>T p.L753= Synonymous 12/16 - 3
1-23234569-G-A c.2260G>A p.V754I Missense 12/16 - 2
1-23234575-A-G c.2266A>G p.S756G Missense 12/16 - 1
1-23234575-AG-CT c.2266_2267inv p.S756L Missense 12/16 - 1
1-23234584-G-A c.2275G>A p.V759I Missense 12/16 - 2
1-23234593-G-T c.2284G>T p.V762L Missense 12/16 - 1
1-23234597-C-T c.2288C>T p.S763L Missense 12/16 - 1
1-23234598-G-A c.2289G>A p.S763= Synonymous 12/16 - 6
1-23234598-G-C c.2289G>C p.S763= Synonymous 12/16 - 1
1-23234598-G-T c.2289G>T p.S763= Synonymous 12/16 - 1
1-23234606-G-A c.2297G>A p.G766E Missense 12/16 - 1
1-23234607-G-A c.2298G>A p.G766= Synonymous 12/16 - 1
1-23234611-TC-AT c.2302_2303delinsAT p.S768I Missense 12/16 - 1
1-23234614-C-T c.2305C>T p.R769C Missense 12/16 - 3
1-23234627-GAC-G c.2318_2319del p.D773Gfs*35 Frameshift 12/16 - 1
1-23234628-C-T c.2319C>T p.D773= Synonymous 12/16 - 2
1-23234629-G-A c.2320G>A p.D774N Missense 12/16 - 3
1-23234647-T-C c.2338T>C p.Y780H Missense 12/16 - 1
1-23234650-A-T c.2341A>T p.T781S Missense 12/16 - 1
1-23234651-C-G c.2342C>G p.T781S Missense 12/16 - 1
1-23234651-C-T c.2342C>T p.T781I Missense 12/16 - 1
1-23234654-G-A c.2345G>A p.S782N Missense 12/16 - 1
1-23234655-T-G c.2346T>G p.S782R Missense 12/16 - 2
1-23234658-C-A c.2349C>A p.A783= Synonymous 12/16 - 1
1-23234658-C-G c.2349C>G p.A783= Synonymous 12/16 - 1
1-23234658-C-T c.2349C>T p.A783= Synonymous 12/16 - 3
1-23234660-T-A c.2351T>A p.L784Q Missense 12/16 - 1
1-23234659-C-T c.2350C>T p.L784= Synonymous 12/16 - 1
1-23234661-G-A c.2352G>A p.L784= Synonymous 12/16 - 1
1-23234661-G-C c.2352G>C p.L784= Synonymous 12/16 - 1
1-23234661-G-T c.2352G>T p.L784= Synonymous 12/16 - 1
1-23234685-G-A c.2352+24G>A - IntronicSNV - 12/15 1
1-23234685-G-C c.2352+24G>C - IntronicSNV - 12/15 1
1-23234685-G-T c.2352+24G>T - IntronicSNV - 12/15 1
1-23234946-A-G c.2352+285A>G - IntronicSNV - 12/15 1
1-23235518-G-A c.2356G>A p.G786R Missense 13/16 - 3
1-23235518-G-C c.2356G>C p.G786R Missense 13/16 - 1
1-23235521-A-G c.2359A>G p.K787E Missense 13/16 - 1
1-23235526-C-T c.2364C>T p.I788= Synonymous 13/16 - 4
1-23235527-C-T c.2365C>T p.P789S Missense 13/16 - 2
1-23235528-C-A c.2366C>A p.P789H Missense 13/16 - 1
1-23235533-C-T c.2371C>T p.R791C Missense 13/16 - 4
1-23235534-G-A c.2372G>A p.R791H Missense 13/16 - 4
1-23235535-C-A c.2373C>A p.R791= Synonymous 13/16 - 1
1-23235542-G-A c.2380G>A p.A794T Missense 13/16 - 1
1-23235546-C-T c.2384C>T p.P795L Missense 13/16 - 2
1-23235547-G-A c.2385G>A p.P795= Synonymous 13/16 - 1
1-23235547-G-C c.2385G>C p.P795= Synonymous 13/16 - 1
1-23235547-G-T c.2385G>T p.P795= Synonymous 13/16 - 1
1-23235548-G-A c.2386G>A p.E796K Missense 13/16 - 2
1-23235552-C-T c.2390C>T p.A797V Missense 13/16 - 3
1-23235557-C-T c.2395C>T p.Q799* Nonsense 13/16 - 1
1-23235559-G-A c.2397G>A p.Q799= Synonymous 13/16 - 1
1-23235559-G-C c.2397G>C p.Q799H Missense 13/16 - 1
1-23235559-G-T c.2397G>T p.Q799H Missense 13/16 - 2
1-23235562-C-A c.2400C>A p.Y800* Nonsense 13/16 - 2
1-23235562-C-G c.2400C>G p.Y800* Nonsense 13/16 - 2
1-23235563-C-T c.2401C>T p.R801W Missense 13/16 - 2
1-23235564-G-A c.2402G>A p.R801Q Missense 13/16 - 2
1-23235566-A-G c.2404A>G p.K802E Missense 13/16 - 1
1-23235571-C-T c.2409C>T p.F803= Synonymous 13/16 - 3
1-23235576-C-T c.2414C>T p.S805L Missense 13/16 - 4
1-23235582-G-A c.2420G>A p.S807N Missense 13/16 - 1
1-23235582-G-C c.2420G>C p.S807T Missense 13/16 - 1
1-23235584-G-A c.2422G>A p.D808N Missense 13/16 - 3
1-23235588-T-C c.2426T>C p.V809A Missense 13/16 - 2
1-23235599-G-A c.2437G>A p.G813S Missense 13/16 - 3
1-23235599-GGC-TGA c.2437_2439delinsTGA p.G813* Nonsense 13/16 - 1
1-23235600-G-T c.2438G>T p.G813V Missense 13/16 - 2
1-23235608-A-G c.2446A>G p.M816V Missense 13/16 - 2
1-23235612-G-A c.2450G>A p.W817* Nonsense 13/16 - 1
1-23235613-G-A c.2451G>A p.W817* Nonsense 13/16 - 4
1-23235616-G-A c.2454G>A p.E818= Synonymous 13/16 - 1
1-23235619-G-A c.2457G>A p.V819= Synonymous 13/16 - 1
1-23235622-G-A c.2460G>A p.M820I Missense 13/16 - 1
1-23235625-C-G c.2463C>G p.S821= Synonymous 13/16 - 1
1-23235628-T-C c.2466T>C p.Y822= Synonymous 13/16 - 1
1-23235631-G-A c.2469G>A p.G823= Synonymous 13/16 - 2
1-23235632-G-A c.2470G>A p.E824K Missense 13/16 - 1
1-23235633-A-G c.2471A>G p.E824G Missense 13/16 - 1
1-23235635-C-T c.2473C>T p.R825W Missense 13/16 - 1
1-23235636-G-A c.2474G>A p.R825Q Missense 13/16 - 4
1-23235647-G-GA c.2486dup p.D829Efs*12 Frameshift 13/16 - 1
1-23235657-A-G c.2495A>G p.N832S Missense 13/16 - 1
1-23235657-A-T c.2495A>T p.N832I Missense 13/16 - 1
1-23235659-C-T c.2497C>T p.Q833* Nonsense 13/16 - 2
1-23235664-T-G c.2502T>G p.D834E Missense 13/16 - 1
1-23236826-C-T c.2503-49C>T - IntronicSNV - 13/15 8
1-23236875-G-T c.2503G>T p.V835L Missense 14/16 - 1
1-23236884-G-A c.2512G>A p.A838T Missense 14/16 - 1
1-23236885-C-G c.2513C>G p.A838G Missense 14/16 - 1
1-23236887-A-G c.2515A>G p.I839V Missense 14/16 - 1
1-23236888-T-C c.2516T>C p.I839T Missense 14/16 - 1
1-23236889-T-G c.2517T>G p.I839M Missense 14/16 - 7
1-23236890-G-A c.2518G>A p.E840K Missense 14/16 - 1
1-23236895-G-A c.2523G>A p.Q841= Synonymous 14/16 - 1
1-23236897-A-T c.2525A>T p.D842V Missense 14/16 - 10
1-23236900-A-G c.2528A>G p.Y843C Missense 14/16 - 3
1-23236902-C-G c.2530C>G p.R844G Missense 14/16 - 1
1-23236902-CGG-TGT c.2530_2532delinsTGT p.R844C Missense 14/16 - 1
1-23236902-C-T c.2530C>T p.R844W Missense 14/16 - 2
1-23236903-G-A c.2531G>A p.R844Q Missense 14/16 - 6
1-23236907-G-A c.2535G>A p.L845= Synonymous 14/16 - 1
1-23236908-C-G c.2536C>G p.P846A Missense 14/16 - 4
1-23236911-C-G c.2539C>G p.P847A Missense 14/16 - 1
1-23236911-C-T c.2539C>T p.P847S Missense 14/16 - 2
1-23236913-G-A c.2541G>A p.P847= Synonymous 14/16 - 1
1-23236915-C-A c.2543C>A p.P848H Missense 14/16 - 1
1-23236916-C-A c.2544C>A p.P848= Synonymous 14/16 - 1
1-23236916-C-G c.2544C>G p.P848= Synonymous 14/16 - 1
1-23236916-C-T c.2544C>T p.P848= Synonymous 14/16 - 1
1-23236919-G-A c.2547G>A p.M849I Missense 14/16 - 1
1-23236919-G-C c.2547G>C p.M849I Missense 14/16 - 1
1-23236919-G-T c.2547G>T p.M849I Missense 14/16 - 1
1-23236920-G-A c.2548G>A p.D850N Missense 14/16 - 2
1-23236922-C-A c.2550C>A p.D850E Missense 14/16 - 1
1-23236922-C-G c.2550C>G p.D850E Missense 14/16 - 1
1-23236924-G-A c.2552G>A p.C851Y Missense 14/16 - 1
1-23236925-C-T c.2553C>T p.C851= Synonymous 14/16 - 1
1-23236926-C-T c.2554C>T p.P852S Missense 14/16 - 2
1-23236927-C-G c.2555C>G p.P852R Missense 14/16 - 1
1-23236928-G-A c.2556G>A p.P852= Synonymous 14/16 - 1
1-23236928-G-C c.2556G>C p.P852= Synonymous 14/16 - 1
1-23236928-G-T c.2556G>T p.P852= Synonymous 14/16 - 1
1-23236931-C-G c.2559C>G p.S853R Missense 14/16 - 1
1-23236932-G-A c.2560G>A p.A854T Missense 14/16 - 2
1-23236934-C-T c.2562C>T p.A854= Synonymous 14/16 - 3
1-23236939-A-G c.2567A>G p.H856R Missense 14/16 - 1
1-23236941-C-T c.2569C>T p.Q857* Nonsense 14/16 - 6
1-23236943-A-G c.2571A>G p.Q857= Synonymous 14/16 - 1
1-23236944-C-T c.2572C>T p.L858F Missense 14/16 - 2
1-23236945-T-A c.2573T>A p.L858H Missense 14/16 - 1
1-23236947-A-T c.2575A>T p.M859L Missense 14/16 - 1
1-23236947-AT-GG c.2575_2576delinsGG p.M859G Missense 14/16 - 1
1-23236951-T-G c.2579T>G p.L860R Missense 14/16 - 3
1-23236952-G-A c.2580G>A p.L860= Synonymous 14/16 - 1
1-23236953-G-A c.2581G>A p.D861N Missense 14/16 - 8
1-23236954-A-G c.2582A>G p.D861G Missense 14/16 - 1
1-23236955-C-T c.2583C>T p.D861= Synonymous 14/16 - 1
1-23236960-G-A c.2588G>A p.W863* Nonsense 14/16 - 2
1-23236961-G-A c.2589G>A p.W863* Nonsense 14/16 - 2
1-23236961-G-C c.2589G>C p.W863C Missense 14/16 - 1
1-23236961-G-T c.2589G>T p.W863C Missense 14/16 - 1
1-23236966-A-G c.2594A>G p.K865R Missense 14/16 - 1
1-23236967-G-A c.2595G>A p.K865= Synonymous 14/16 - 2
1-23236971-C-T c.2599C>T p.R867C Missense 14/16 - 1
1-23236972-G-A c.2600G>A p.R867H Missense 14/16 - 2
1-23236973-C-A c.2601C>A p.R867= Synonymous 14/16 - 2
1-23236973-C-G c.2601C>G p.R867= Synonymous 14/16 - 1
1-23236973-C-T c.2601C>T p.R867= Synonymous 14/16 - 1
1-23236976-C-T c.2604C>T p.N868= Synonymous 14/16 - 1
1-23236978-A-G c.2606A>G p.H869R Missense 14/16 - 1
1-23236980-C-T c.2608C>T p.R870W Missense 14/16 - 2
1-23236981-G-A c.2609G>A p.R870Q Missense 14/16 - 2
1-23236983-C-G c.2611C>G p.P871A Missense 14/16 - 1
1-23236984-C-T c.2612C>T p.P871L Missense 14/16 - 1
1-23236989-T-A c.2617T>A p.F873I Missense 14/16 - 1
1-23236991-C-T c.2619C>T p.F873= Synonymous 14/16 - 3
1-23236992-G-A c.2620G>A p.G874S Missense 14/16 - 6
1-23236993-G-A c.2621G>A p.G874D Missense 14/16 - 1
1-23236997-A-G c.2625A>G p.Q875= Synonymous 14/16 - 3
1-23237000-T-G c.2628T>G p.I876M Missense 14/16 - 3
1-23237006-C-A c.2634C>A p.N878K Missense 14/16 - 1
1-23237007-A-G c.2635A>G p.T879A Missense 14/16 - 1
1-23237014-A-T c.2642A>T p.D881V Missense 14/16 - 1
1-23237016-A-G c.2644A>G p.K882E Missense 14/16 - 1
1-23237016-A-T c.2644A>T p.K882* Nonsense 14/16 - 1
1-23237018-G-C c.2646G>C p.K882N Missense 14/16 - 1
1-23237018-G-T c.2646G>T p.K882N Missense 14/16 - 1
1-23237019-A-G c.2647A>G p.M883V Missense 14/16 - 2
1-23237024-C-T c.2652C>T p.I884= Synonymous 14/16 - 3
1-23237025-C-T c.2653C>T p.R885C Missense 14/16 - 1
1-23237026-G-A c.2654G>A p.R885H Missense 14/16 - 1
1-23237029-A-T c.2657A>T p.N886I Missense 14/16 - 1
1-23237032-C-T c.2660C>T p.P887L Missense 14/16 - 2
1-23237037-A-G c.2665A>G p.S889G Missense 14/16 - 5
1-23237042-TC-T c.2670del p.A892Pfs*57 Frameshift 14/16 - 1
1-23237047-C-A c.2675C>A p.A892D Missense 14/16 - 1
1-23237051-G-A c.2679G>A p.M893I Missense 14/16 - 1
1-23237051-G-C c.2679G>C p.M893I Missense 14/16 - 1
1-23237051-G-T c.2679G>T p.M893I Missense 14/16 - 1
1-23237052-G-A c.2680G>A p.A894T Missense 14/16 - 2
1-23237053-C-T c.2681C>T p.A894V Missense 14/16 - 2
1-23237054-G-A c.2682G>A p.A894= Synonymous 14/16 - 1
1-23237054-G-C c.2682G>C p.A894= Synonymous 14/16 - 1
1-23237054-G-T c.2682G>T p.A894= Synonymous 14/16 - 1
1-23237056-C-T c.2684C>T p.P895L Missense 14/16 - 1
1-23237058-C-A c.2686C>A p.L896I Missense 14/16 - 1
1-23237059-T-A c.2687T>A p.L896H Missense 14/16 - 1
1-23237060-C-A c.2688C>A p.L896= Synonymous 14/16 - 1
1-23237062-C-T c.2690C>T p.S897F Missense 14/16 - 2
1-23237064-T-G c.2692T>G p.S898A Missense 14/16 - 1
1-23237067-G-A c.2695G>A p.G899S Missense 14/16 - 3
1-23237069-G-A c.2696+1G>A - IntronicSNV - 14/15 1
1-23237090-G-GCCCCAGCCAGGCCCTGCCCCTT c.2696+43_2696+44insTCCCCAGCCAGGCCCTGCCCCT - IntronicInsertion - 14/15 1
1-23237111-T-TG c.2696+43_2696+44insG - IntronicInsertion - 14/15 1
1-23237111-T-TGC c.2696+43_2696+44insGC - IntronicInsertion - 14/15 1
1-23237111-T-TGCCCCAG c.2696+43_2696+44insGCCCCAG - IntronicInsertion - 14/15 1
1-23237111-T-TGCCCCAGC c.2696+43_2696+44insGCCCCAGC - IntronicInsertion - 14/15 1
1-23237111-T-TGCCCCAGCCAGG c.2696+43_2696+44insGCCCCAGCCAGG - IntronicInsertion - 14/15 1
1-23237111-T-TGCCCCAGCCAGGCC c.2696+43_2696+44insGCCCCAGCCAGGCC - IntronicInsertion - 14/15 1
1-23238942-A-G c.2702A>G p.N901S Missense 15/16 - 1
1-23238943-C-T c.2703C>T p.N901= Synonymous 15/16 - 1
1-23238948-C-T c.2708C>T p.P903L Missense 15/16 - 1
1-23238952-G-A c.2712G>A p.L904= Synonymous 15/16 - 1
1-23238953-C-A c.2713C>A p.L905M Missense 15/16 - 1
1-23238956-G-T c.2716G>T p.D906Y Missense 15/16 - 1
1-23238959-C-A c.2719C>A p.R907S Missense 15/16 - 3
1-23238959-C-T c.2719C>T p.R907C Missense 15/16 - 1
1-23238960-G-A c.2720G>A p.R907H Missense 15/16 - 1
1-23238960-G-C c.2720G>C p.R907P Missense 15/16 - 1
1-23238963-C-A c.2723C>A p.T908K Missense 15/16 - 1
1-23238963-C-T c.2723C>T p.T908M Missense 15/16 - 2
1-23238964-G-A c.2724G>A p.T908= Synonymous 15/16 - 4
1-23238967-C-G c.2727C>G p.I909M Missense 15/16 - 1
1-23238971-G-A c.2731G>A p.D911N Missense 15/16 - 4
1-23238978-C-T c.2738C>T p.T913I Missense 15/16 - 1
1-23238990-C-T c.2750C>T p.T917M Missense 15/16 - 2
1-23238997-C-A c.2757C>A p.D919E Missense 15/16 - 1
1-23238997-C-G c.2757C>G p.D919E Missense 15/16 - 1
1-23238997-C-T c.2757C>T p.D919= Synonymous 15/16 - 1
1-23238999-A-G c.2759A>G p.E920G Missense 15/16 - 1
1-23239008-A-G c.2768A>G p.E923G Missense 15/16 - 2
1-23239013-A-T c.2773A>T p.I925F Missense 15/16 - 1
1-23239017-A-G c.2777A>G p.K926R Missense 15/16 - 2
1-23239019-A-G c.2779A>G p.M927V Missense 15/16 - 2
1-23239029-A-G c.2789A>G p.Y930C Missense 15/16 - 1
1-23239032-A-T c.2792A>T p.K931M Missense 15/16 - 1
1-23239034-G-A c.2794G>A p.E932K Missense 15/16 - 1
1-23239035-A-T c.2795A>T p.E932V Missense 15/16 - 2
1-23239039-C-T c.2799C>T p.S933= Synonymous 15/16 - 1
1-23239042-C-T c.2802C>T p.F934= Synonymous 15/16 - 3
1-23239043-G-A c.2803G>A p.A935T Missense 15/16 - 3
1-23239045-C-T c.2805C>T p.A935= Synonymous 15/16 - 1
1-23239051-C-A c.2811C>A p.A937= Synonymous 15/16 - 1
1-23239051-C-G c.2811C>G p.A937= Synonymous 15/16 - 3
1-23239051-C-T c.2811C>T p.A937= Synonymous 15/16 - 1
1-23239052-G-A c.2812G>A p.G938S Missense 15/16 - 1
1-23239057-C-T c.2817C>T p.F939= Synonymous 15/16 - 1
1-23239058-A-G c.2818A>G p.T940A Missense 15/16 - 1
1-23239062-C-T c.2822C>T p.S941F Missense 15/16 - 1
1-23239065-T-A c.2825T>A p.F942Y Missense 15/16 - 1
1-23239068-A-G c.2828A>G p.D943G Missense 15/16 - 1
1-23239069-C-T c.2829C>T p.D943= Synonymous 15/16 - 2
1-23239070-G-A c.2830G>A p.V944I Missense 15/16 - 1
1-23239072-C-T c.2832C>T p.V944= Synonymous 15/16 - 3
1-23239073-G-A c.2833G>A p.V945M Missense 15/16 - 2
1-23239073-GTG-ATC c.2833_2835delinsATC p.V945I Missense 15/16 - 2
1-23239075-G-A c.2835G>A p.V945= Synonymous 15/16 - 1
1-23239075-G-C c.2835G>C p.V945= Synonymous 15/16 - 1
1-23239075-G-T c.2835G>T p.V945= Synonymous 15/16 - 1
1-23239078-T-A c.2838T>A p.S946= Synonymous 15/16 - 1
1-23239078-T-C c.2838T>C p.S946= Synonymous 15/16 - 1
1-23239078-T-G c.2838T>G p.S946= Synonymous 15/16 - 1
1-23239080-A-T c.2840A>T p.Q947L Missense 15/16 - 1
1-23239084-G-A c.2844G>A p.M948I Missense 15/16 - 2
1-23239084-G-C c.2844G>C p.M948I Missense 15/16 - 1
1-23239084-G-T c.2844G>T p.M948I Missense 15/16 - 1
1-23239091-G-A c.2851G>A p.E951K Missense 15/16 - 1
1-23239919-G-A c.2853-36G>A - IntronicSNV - 15/15 1
1-23239956-G-C c.2854G>C p.D952H Missense 16/16 - 1
1-23239959-A-T c.2857A>T p.I953F Missense 16/16 - 1
1-23239960-T-C c.2858T>C p.I953T Missense 16/16 - 1
1-23239962-C-A c.2860C>A p.L954I Missense 16/16 - 1
1-23239965-C-T c.2863C>T p.R955W Missense 16/16 - 6
1-23239966-G-A c.2864G>A p.R955Q Missense 16/16 - 3
1-23239966-G-T c.2864G>T p.R955L Missense 16/16 - 1
1-23239968-G-A c.2866G>A p.V956I Missense 16/16 - 1
1-23239972-G-A c.2870G>A p.G957E Missense 16/16 - 1
1-23239972-G-T c.2870G>T p.G957V Missense 16/16 - 1
1-23239970-TG-T c.2872del p.V958Sfs*11 Frameshift 16/16 - 1
1-23239983-G-A c.2881G>A p.A961T Missense 16/16 - 2
1-23239986-G-A c.2884G>A p.G962S Missense 16/16 - 1
1-23239987-G-A c.2885G>A p.G962D Missense 16/16 - 1
1-23239988-C-A c.2886C>A p.G962= Synonymous 16/16 - 1
1-23239988-C-G c.2886C>G p.G962= Synonymous 16/16 - 1
1-23239988-C-T c.2886C>T p.G962= Synonymous 16/16 - 1
1-23239993-A-G c.2891A>G p.Q964R Missense 16/16 - 1
1-23239994-G-GT c.2892_2893insT p.K965* Nonsense 16/16 - 1
1-23239997-A-AT c.2895_2896insT p.K966* Nonsense 16/16 - 3
1-23239998-A-T c.2896A>T p.K966* Nonsense 16/16 - 2
1-23239994-GA-G c.2899del p.I967Sfs*2 Frameshift 16/16 - 1
1-23240001-A-G c.2899A>G p.I967V Missense 16/16 - 1
1-23240007-A-T c.2905A>T p.N969Y Missense 16/16 - 2
1-23240009-C-A c.2907C>A p.N969K Missense 16/16 - 1
1-23240009-C-G c.2907C>G p.N969K Missense 16/16 - 1
1-23240012-T-C c.2910T>C p.S970= Synonymous 16/16 - 1
1-23240016-C-T c.2914C>T p.Q972* Nonsense 16/16 - 2
1-23240019-G-A c.2917G>A p.V973M Missense 16/16 - 3
1-23240023-T-C c.2921T>C p.M974T Missense 16/16 - 1
1-23240025-C-G c.2923C>G p.R975G Missense 16/16 - 4
1-23240025-C-T c.2923C>T p.R975W Missense 16/16 - 7
1-23240026-G-A c.2924G>A p.R975Q Missense 16/16 - 1
1-23240029-C-T c.2927C>T p.A976V Missense 16/16 - 3
1-23240030-G-A c.2928G>A p.A976= Synonymous 16/16 - 2
1-23240030-G-C c.2928G>C p.A976= Synonymous 16/16 - 1
1-23240030-G-T c.2928G>T p.A976= Synonymous 16/16 - 1
1-23240034-A-C c.2932A>C p.M978L Missense 16/16 - 1
1-23240034-A-T c.2932A>T p.M978L Missense 16/16 - 1
1-23240042-G-A c.2940G>A p.Q980= Synonymous 16/16 - 1
1-23240046-C-T c.2944C>T p.Q982* Nonsense 16/16 - 2
1-23240055-G-C c.2953G>C p.E985Q Missense 16/16 - 1
1-23240057-G-T c.2955G>T p.E985D Missense 16/16 - 1
1-23240058-G-C c.2956G>C p.V986L Missense 16/16 - 1
1-23240084-C-A c.*21C>A - 3-UTRSNV 16/16 - 1
1-23240084-C-T c.*21C>T - 3-UTRSNV 16/16 - 1
1-23240123-G-A c.*60G>A - 3-UTRSNV 16/16 - 1
1-23240123-G-T c.*60G>T - 3-UTRSNV 16/16 - 1
1-23240134-T-C c.*71T>C - 3-UTRSNV 16/16 - 2
1-23240151-G-A c.*88G>A - 3-UTRSNV 16/16 - 1
1-23240152-G-C c.*89G>C - 3-UTRSNV 16/16 - 1
1-23240157-C-T c.*94C>T - 3-UTRSNV 16/16 - 1
1-23240170-G-A c.*107G>A - 3-UTRSNV 16/16 - 1
1-23240170-G-C c.*107G>C - 3-UTRSNV 16/16 - 1
1-23240175-C-T c.*112C>T - 3-UTRSNV 16/16 - 1
1-23240176-G-A c.*113G>A - 3-UTRSNV 16/16 - 1
1-23240182-C-T c.*119C>T - 3-UTRSNV 16/16 - 1
1-23240192-C-G c.*129C>G - 3-UTRSNV 16/16 - 1
1-23240192-C-T c.*129C>T - 3-UTRSNV 16/16 - 1
1-23240199-T-A c.*136T>A - 3-UTRSNV 16/16 - 1
1-23240199-T-C c.*136T>C - 3-UTRSNV 16/16 - 1
1-23240208-C-T c.*145C>T - 3-UTRSNV 16/16 - 3
1-23240212-A-G c.*149A>G - 3-UTRSNV 16/16 - 1
1-23240214-G-A c.*151G>A - 3-UTRSNV 16/16 - 1
1-23240215-T-A c.*152T>A - 3-UTRSNV 16/16 - 1
1-23240215-T-C c.*152T>C - 3-UTRSNV 16/16 - 1
1-23240218-C-T c.*155C>T - 3-UTRSNV 16/16 - 1
1-23240243-C-A c.*180C>A - 3-UTRSNV 16/16 - 1
1-23240243-C-T c.*180C>T - 3-UTRSNV 16/16 - 1
1-23240244-G-A c.*181G>A - 3-UTRSNV 16/16 - 1
1-23240250-A-G c.*187A>G - 3-UTRSNV 16/16 - 8
1-23240250-A-T c.*187A>T - 3-UTRSNV 16/16 - 8
1-23240289-G-A c.*226G>A - 3-UTRSNV 16/16 - 1
1-23240292-C-T c.*229C>T - 3-UTRSNV 16/16 - 1
1-23240327-T-C c.*264T>C - 3-UTRSNV 16/16 - 1
1-23240339-C-A c.*276C>A - 3-UTRSNV 16/16 - 1
1-23240340-A-C c.*277A>C - 3-UTRSNV 16/16 - 2
1-23240355-G-A c.*292G>A - 3-UTRSNV 16/16 - 1
1-23240463-A-G c.*400A>G - 3-UTRSNV 16/16 - 1
1-23241668-C-A c.*1605C>A - 3-UTRSNV 16/16 - 1
1-23241668-C-G c.*1605C>G - 3-UTRSNV 16/16 - 1
1-23242072-G-A c.*2009G>A - IntergenicSNV 16/16 - 2
1-23242629-T-C c.*2566T>C - IntergenicSNV 16/16 - 1
1-23242629-T-G c.*2566T>G - IntergenicSNV 16/16 - 1
1-23243002-C-A c.*2939C>A - IntergenicSNV 16/16 - 1
1-23244668-C-A c.*4605C>A - IntergenicSNV 16/16 - 1
1-23244668-C-T c.*4605C>T - IntergenicSNV 16/16 - 1