CUX1

CUX1 cut like homeobox 1

Annotation transcript: NM_001913.5

2979 unique variant annotations were identified in 886 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
7-101460920-A-C c.1A>C p.M1? Missense 1/24 - 1
7-101460920-A-T c.1A>T p.M1? Missense 1/24 - 1
7-101460922-G-A c.3G>A p.M1? Missense 1/24 - 1
7-101460922-G-C c.3G>C p.M1? Missense 1/24 - 1
7-101460922-G-T c.3G>T p.M1? Missense 1/24 - 1
7-101460923-T-C c.4T>C p.L2= Synonymous 1/24 - 1
7-101460924-T-C c.5T>C p.L2S Missense 1/24 - 1
7-101460927-G-A c.8G>A p.C3Y Missense 1/24 - 1
7-101460928-C-T c.9C>T p.C3= Synonymous 1/24 - 1
7-101460931-A-C c.12A>C p.V4= Synonymous 1/24 - 1
7-101460931-A-G c.12A>G p.V4= Synonymous 1/24 - 1
7-101460935-G-A c.16G>A p.G6R Missense 1/24 - 1
7-101460936-G-A c.17G>A p.G6E Missense 1/24 - 2
7-101460940-C-A c.21C>A p.A7= Synonymous 1/24 - 1
7-101460944-T-C c.25T>C p.L9= Synonymous 1/24 - 1
7-101460947-A-G c.28A>G p.K10E Missense 1/24 - 1
7-101460948-A-G c.29A>G p.K10R Missense 1/24 - 1
7-101460980-G-A c.30+31G>A - IntronicSNV - 1/23 2
7-101461017-G-A c.30+68G>A - IntronicSNV - 1/23 1
7-101461159-A-C c.30+210A>C - IntronicSNV - 1/23 1
7-101464861-G-A c.30+3912G>A - IntronicSNV - 1/23 1
7-101464861-G-T c.30+3912G>T - IntronicSNV - 1/23 1
7-101499930-G-A c.30+38981G>A - IntronicSNV - 1/23 1
7-101513432-T-G c.31-45963T>G - IntronicSNV - 1/23 1
7-101513672-G-A c.31-45723G>A - IntronicSNV - 1/23 1
7-101513672-G-C c.31-45723G>C - IntronicSNV - 1/23 1
7-101530321-G-A c.31-29074G>A - IntronicSNV - 1/23 2
7-101530321-G-C c.31-29074G>C - IntronicSNV - 1/23 2
7-101535789-G-A c.31-23606G>A - IntronicSNV - 1/23 1
7-101539196-T-G c.31-20199T>G - IntronicSNV - 1/23 1
7-101546316-C-T c.31-13079C>T - IntronicSNV - 1/23 3
7-101548786-C-T c.31-10609C>T - IntronicSNV - 1/23 1
7-101549564-G-A c.31-9831G>A - IntronicSNV - 1/23 1
7-101551704-G-A c.31-7691G>A - IntronicSNV - 1/23 1
7-101552440-G-A c.31-6955G>A - IntronicSNV - 1/23 8
7-101554599-G-A c.31-4796G>A - IntronicSNV - 1/23 3
7-101554599-G-C c.31-4796G>C - IntronicSNV - 1/23 3
7-101556109-G-T c.31-3286G>T - IntronicSNV - 1/23 1
7-101556621-C-T c.31-2774C>T - IntronicSNV - 1/23 1
7-101556746-G-C c.31-2649G>C - IntronicSNV - 1/23 1
7-101556846-C-T c.31-2549C>T - IntronicSNV - 1/23 3
7-101559395-AG-CT c.31_32inv p.R11L Missense 2/24 - 1
7-101559396-G-C c.32G>C p.R11T Missense 2/24 - 1
7-101559395-A-C c.31A>C p.R11= Synonymous 2/24 - 1
7-101559397-A-G c.33A>G p.R11= Synonymous 2/24 - 1
7-101559398-GAA-TGT c.34_36delinsTGT p.E12C Missense 2/24 - 1
7-101559399-A-C c.35A>C p.E12A Missense 2/24 - 1
7-101559400-A-G c.36A>G p.E12= Synonymous 2/24 - 1
7-101559401-C-T c.37C>T p.L13F Missense 2/24 - 1
7-101559401-CT-GC c.37_38delinsGC p.L13A Missense 2/24 - 2
7-101559402-T-G c.38T>G p.L13R Missense 2/24 - 1
7-101559403-C-A c.39C>A p.L13= Synonymous 2/24 - 1
7-101559403-C-G c.39C>G p.L13= Synonymous 2/24 - 1
7-101559403-C-T c.39C>T p.L13= Synonymous 2/24 - 1
7-101559404-G-A c.40G>A p.D14N Missense 2/24 - 2
7-101559404-GA-CT c.40_41delinsCT p.D14L Missense 2/24 - 1
7-101559405-A-T c.41A>T p.D14V Missense 2/24 - 3
7-101559406-T-C c.42T>C p.D14= Synonymous 2/24 - 1
7-101559407-G-A c.43G>A p.A15T Missense 2/24 - 2
7-101559407-GC-CA c.43_44delinsCA p.A15H Missense 2/24 - 1
7-101559407-GCC-TAA c.43_45delinsTAA p.A15* Nonsense 2/24 - 1
7-101559408-C-A c.44C>A p.A15D Missense 2/24 - 4
7-101559408-C-T c.44C>T p.A15V Missense 2/24 - 1
7-101559410-A-G c.46A>G p.T16A Missense 2/24 - 1
7-101559411-C-G c.47C>G p.T16S Missense 2/24 - 1
7-101559411-C-T c.47C>T p.T16I Missense 2/24 - 1
7-101559413-G-A c.49G>A p.A17T Missense 2/24 - 5
7-101559413-GCA-TAT c.49_51delinsTAT p.A17Y Missense 2/24 - 3
7-101559413-GC-CA c.49_50delinsCA p.A17Q Missense 2/24 - 4
7-101559413-GC-TA c.49_50delinsTA p.A17* Nonsense 2/24 - 1
7-101559413-G-T c.49G>T p.A17S Missense 2/24 - 1
7-101559414-C-A c.50C>A p.A17E Missense 2/24 - 1
7-101559414-CA-AC c.50_51delinsAC p.A17D Missense 2/24 - 3
7-101559414-C-T c.50C>T p.A17V Missense 2/24 - 3
7-101559415-A-C c.51A>C p.A17= Synonymous 2/24 - 1
7-101559415-A-G c.51A>G p.A17= Synonymous 2/24 - 1
7-101559415-A-T c.51A>T p.A17= Synonymous 2/24 - 2
7-101559416-A-G c.52A>G p.T18A Missense 2/24 - 1
7-101559417-C-T c.53C>T p.T18M Missense 2/24 - 1
7-101559419-G-A c.55G>A p.V19I Missense 2/24 - 2
7-101559420-T-C c.56T>C p.V19A Missense 2/24 - 1
7-101559422-T-G c.58T>G p.L20V Missense 2/24 - 1
7-101559422-TT-GA c.58_59delinsGA p.L20E Missense 2/24 - 1
7-101559422-TT-GC c.58_59delinsGC p.L20A Missense 2/24 - 2
7-101559422-TTG-CAT c.58_60delinsCAT p.L20H Missense 2/24 - 1
7-101559422-TTG-GAC c.58_60delinsGAC p.L20D Missense 2/24 - 2
7-101559423-T-C c.59T>C p.L20S Missense 2/24 - 1
7-101559423-T-G c.59T>G p.L20W Missense 2/24 - 1
7-101559425-G-A c.61G>A p.A21T Missense 2/24 - 2
7-101559425-GC-CA c.61_62delinsCA p.A21Q Missense 2/24 - 1
7-101559425-G-T c.61G>T p.A21S Missense 2/24 - 1
7-101559426-C-T c.62C>T p.A21V Missense 2/24 - 3
7-101559427-G-A c.63G>A p.A21= Synonymous 2/24 - 2
7-101559427-G-C c.63G>C p.A21= Synonymous 2/24 - 2
7-101559427-G-T c.63G>T p.A21= Synonymous 2/24 - 2
7-101559428-A-C c.64A>C p.N22H Missense 2/24 - 1
7-101559430-C-A c.66C>A p.N22K Missense 2/24 - 1
7-101559431-C-A c.67C>A p.R23= Synonymous 2/24 - 1
7-101559431-CGG-TGT c.67_69delinsTGT p.R23C Missense 2/24 - 1
7-101559432-G-C c.68G>C p.R23P Missense 2/24 - 1
7-101559434-C-A c.70C>A p.Q24K Missense 2/24 - 1
7-101559434-CA-TG c.70_71inv p.Q24W Missense 2/24 - 1
7-101559436-G-C c.72G>C p.Q24H Missense 2/24 - 2
7-101559436-G-T c.72G>T p.Q24H Missense 2/24 - 2
7-101559437-G-A c.73G>A p.D25N Missense 2/24 - 2
7-101559437-G-T c.73G>T p.D25Y Missense 2/24 - 2
7-101559438-A-C c.74A>C p.D25A Missense 2/24 - 1
7-101559438-A-G c.74A>G p.D25G Missense 2/24 - 1
7-101559438-A-T c.74A>T p.D25V Missense 2/24 - 3
7-101559439-T-A c.75T>A p.D25E Missense 2/24 - 1
7-101559443-AG-GC c.79_80delinsGC p.S27A Missense 2/24 - 4
7-101559443-AGT-GAG c.79_81delinsGAG p.S27E Missense 2/24 - 1
7-101559443-A-T c.79A>T p.S27C Missense 2/24 - 1
7-101559446-G-A c.82G>A p.E28K Missense 2/24 - 3
7-101559446-G-T c.82G>T p.E28* Nonsense 2/24 - 1
7-101559448-G-T c.84G>T p.E28D Missense 2/24 - 1
7-101559452-T-C c.88T>C p.S30P Missense 2/24 - 1
7-101559452-TCC-GAG c.88_90delinsGAG p.S30E Missense 2/24 - 1
7-101559452-TC-GA c.88_89inv p.S30D Missense 2/24 - 1
7-101559452-T-G c.88T>G p.S30A Missense 2/24 - 1
7-101559453-C-G c.89C>G p.S30C Missense 2/24 - 2
7-101559453-C-T c.89C>T p.S30F Missense 2/24 - 2
7-101559455-A-C c.91A>C p.R31= Synonymous 2/24 - 1
7-101559457-A-C c.93A>C p.R31S Missense 2/24 - 1
7-101559457-A-G c.93A>G p.R31= Synonymous 2/24 - 1
7-101559457-A-T c.93A>T p.R31S Missense 2/24 - 1
7-101559458-AAG-TGT c.94_96delinsTGT p.K32C Missense 2/24 - 1
7-101559458-A-C c.94A>C p.K32Q Missense 2/24 - 2
7-101559458-A-G c.94A>G p.K32E Missense 2/24 - 1
7-101559461-C-T c.97C>T p.R33W Missense 2/24 - 1
7-101559462-G-A c.98G>A p.R33Q Missense 2/24 - 1
7-101559464-CTT-GAG c.100_102delinsGAG p.L34E Missense 2/24 - 1
7-101559469-C-T c.105C>T p.I35= Synonymous 2/24 - 2
7-101559470-G-A c.106G>A p.E36K Missense 2/24 - 11
7-101559471-A-T c.107A>T p.E36V Missense 2/24 - 1
7-101559475-G-C c.111G>C p.Q37H Missense 2/24 - 1
7-101559476-AG-CC c.112_113delinsCC p.S38P Missense 2/24 - 1
7-101559476-AG-TT c.112_113delinsTT p.S38F Missense 2/24 - 1
7-101559476-A-T c.112A>T p.S38C Missense 2/24 - 1
7-101559477-G-A c.113G>A p.S38N Missense 2/24 - 2
7-101559476-A-C c.112A>C p.S38R Missense 2/24 - 1
7-101559478-C-A c.114C>A p.S38R Missense 2/24 - 1
7-101559478-C-G c.114C>G p.S38R Missense 2/24 - 1
7-101559478-C-T c.114C>T p.S38= Synonymous 2/24 - 1
7-101559479-CG-TA c.115_116delinsTA p.R39* Nonsense 2/24 - 1
7-101559480-G-A c.116G>A p.R39Q Missense 2/24 - 1
7-101559486-T-C c.122T>C p.F41S Missense 2/24 - 1
7-101559488-A-G c.124A>G p.K42E Missense 2/24 - 1
7-101559491-A-C c.127A>C p.K43Q Missense 2/24 - 1
7-101559492-A-G c.128A>G p.K43R Missense 2/24 - 1
7-101559493-G-C c.129G>C p.K43N Missense 2/24 - 1
7-101559495-A-G c.131A>G p.N44S Missense 2/24 - 2
7-101559497-A-T c.133A>T p.T45S Missense 2/24 - 1
7-101559498-C-A c.134C>A p.T45N Missense 2/24 - 1
7-101559498-C-G c.134C>G p.T45S Missense 2/24 - 1
7-101559498-CT-TG c.134_135delinsTG p.T45M Missense 2/24 - 1
7-101559500-C-T c.136C>T p.P46S Missense 2/24 - 5
7-101559501-C-A c.137C>A p.P46Q Missense 2/24 - 1
7-101559502-A-C c.138A>C p.P46= Synonymous 2/24 - 1
7-101559502-A-G c.138A>G p.P46= Synonymous 2/24 - 1
7-101559502-A-T c.138A>T p.P46= Synonymous 2/24 - 1
7-101559503-G-A c.139G>A p.E47K Missense 2/24 - 8
7-101559503-G-T c.139G>T p.E47* Nonsense 2/24 - 3
7-101559506-G-T c.141+1G>T - IntronicSNV - 2/23 1
7-101559507-T-G c.141+2T>G - IntronicSNV - 2/23 1
7-101559513-G-A c.141+8G>A - IntronicSNV - 2/23 3
7-101559524-G-A c.141+19G>A - IntronicSNV - 2/23 1
7-101562674-C-T c.141+3169C>T - IntronicSNV - 2/23 1
7-101566160-C-G c.141+6655C>G - IntronicSNV - 2/23 1
7-101567166-A-G c.141+7661A>G - IntronicSNV - 2/23 1
7-101568195-C-T c.141+8690C>T - IntronicSNV - 2/23 1
7-101583857-A-G c.141+24352A>G - IntronicSNV - 2/23 1
7-101603831-G-T c.141+44326G>T - IntronicSNV - 2/23 1
7-101604420-G-A c.141+44915G>A - IntronicSNV - 2/23 1
7-101610021-G-A c.141+50516G>A - IntronicSNV - 2/23 1
7-101616243-G-A c.142-55135G>A - IntronicSNV - 2/23 1
7-101618467-G-C c.142-52911G>C - IntronicSNV - 2/23 1
7-101619237-A-G c.142-52141A>G - IntronicSNV - 2/23 1
7-101619385-C-A c.142-51993C>A - IntronicSNV - 2/23 2
7-101645822-C-T c.142-25556C>T - IntronicSNV - 2/23 1
7-101647143-T-C c.142-24235T>C - IntronicSNV - 2/23 1
7-101652458-G-A c.142-18920G>A - IntronicSNV - 2/23 1
7-101664901-T-C c.142-6477T>C - IntronicSNV - 2/23 1
7-101669822-T-C c.142-1556T>C - IntronicSNV - 2/23 1
7-101671294-G-A c.142-84G>A - IntronicSNV - 2/23 4
7-101671302-T-C c.142-76T>C - IntronicSNV - 2/23 4
7-101671381-T-G c.145T>G p.L49V Missense 3/24 - 1
7-101671384-C-T c.148C>T p.R50C Missense 3/24 - 4
7-101671386-C-A c.150C>A p.R50= Synonymous 3/24 - 1
7-101671386-C-G c.150C>G p.R50= Synonymous 3/24 - 1
7-101671386-C-T c.150C>T p.R50= Synonymous 3/24 - 1
7-101671393-G-A c.157G>A p.V53I Missense 3/24 - 1
7-101671394-T-C c.158T>C p.V53A Missense 3/24 - 1
7-101671396-GCG-TAT c.160_162delinsTAT p.A54Y Missense 3/24 - 3
7-101671397-C-T c.161C>T p.A54V Missense 3/24 - 4
7-101671398-G-A c.162G>A p.A54= Synonymous 3/24 - 1
7-101671398-G-C c.162G>C p.A54= Synonymous 3/24 - 1
7-101671398-G-T c.162G>T p.A54= Synonymous 3/24 - 1
7-101671400-C-T c.164C>T p.P55L Missense 3/24 - 2
7-101671403-T-C c.167T>C p.L56P Missense 3/24 - 1
7-101671406-T-C c.170T>C p.L57P Missense 3/24 - 1
7-101671405-C-T c.169C>T p.L57= Synonymous 3/24 - 3
7-101671407-G-A c.171G>A p.L57= Synonymous 3/24 - 2
7-101671407-G-C c.171G>C p.L57= Synonymous 3/24 - 2
7-101671407-G-T c.171G>T p.L57= Synonymous 3/24 - 2
7-101671411-A-C c.175A>C p.S59R Missense 3/24 - 1
7-101671411-AG-GC c.175_176delinsGC p.S59A Missense 3/24 - 2
7-101671414-T-C c.178T>C p.F60L Missense 3/24 - 1
7-101671414-TT-GC c.178_179delinsGC p.F60A Missense 3/24 - 1
7-101671416-C-A c.180C>A p.F60L Missense 3/24 - 1
7-101671416-C-G c.180C>G p.F60L Missense 3/24 - 1
7-101671417-C-A c.181C>A p.Q61K Missense 3/24 - 2
7-101671417-CA-GC c.181_182delinsGC p.Q61A Missense 3/24 - 1
7-101671417-CA-TC c.181_182delinsTC p.Q61S Missense 3/24 - 1
7-101671417-C-T c.181C>T p.Q61* Nonsense 3/24 - 3
7-101671418-A-G c.182A>G p.Q61R Missense 3/24 - 3
7-101671418-A-T c.182A>T p.Q61L Missense 3/24 - 6
7-101671419-A-C c.183A>C p.Q61H Missense 3/24 - 3
7-101671419-A-T c.183A>T p.Q61H Missense 3/24 - 1
7-101671420-G-A c.184G>A p.G62R Missense 3/24 - 2
7-101671423-GAG-TGT c.187_189delinsTGT p.E63C Missense 3/24 - 1
7-101671423-GAG-TTT c.187_189delinsTTT p.E63F Missense 3/24 - 1
7-101671424-A-T c.188A>T p.E63V Missense 3/24 - 1
7-101671585-A-G c.189+160A>G - IntronicSNV - 3/23 3
7-101671721-C-T c.189+296C>T - IntronicSNV - 3/23 1
7-101671793-G-T c.189+368G>T - IntronicSNV - 3/23 1
7-101679947-G-A c.189+8522G>A - IntronicSNV - 3/23 1
7-101683563-C-G c.189+12138C>G - IntronicSNV - 3/23 1
7-101683563-C-T c.189+12138C>T - IntronicSNV - 3/23 1
7-101692403-G-A c.189+20978G>A - IntronicSNV - 3/23 1
7-101708371-T-G c.190-5248T>G - IntronicSNV - 3/23 1
7-101709962-C-T c.190-3657C>T - IntronicSNV - 3/23 1
7-101713567-T-C c.190-52T>C - IntronicSNV - 3/23 4
7-101713590-T-C c.190-29T>C - IntronicSNV - 3/23 5
7-101713590-T-G c.190-29T>G - IntronicSNV - 3/23 5
7-101713620-T-G c.191T>G p.I64S Missense 4/24 - 1
7-101713622-G-T c.193G>T p.D65Y Missense 4/24 - 1
7-101713625-G-A c.196G>A p.A66T Missense 4/24 - 2
7-101713625-G-C c.196G>C p.A66P Missense 4/24 - 1
7-101713625-GCA-TGT c.196_198delinsTGT p.A66C Missense 4/24 - 1
7-101713625-G-T c.196G>T p.A66S Missense 4/24 - 1
7-101713626-CA-AC c.197_198delinsAC p.A66D Missense 4/24 - 2
7-101713626-C-G c.197C>G p.A66G Missense 4/24 - 1
7-101713626-C-T c.197C>T p.A66V Missense 4/24 - 1
7-101713627-A-C c.198A>C p.A66= Synonymous 4/24 - 1
7-101713627-A-G c.198A>G p.A66= Synonymous 4/24 - 1
7-101713627-A-T c.198A>T p.A66= Synonymous 4/24 - 1
7-101713628-C-T c.199C>T p.L67= Synonymous 4/24 - 1
7-101713629-T-C c.200T>C p.L67P Missense 4/24 - 1
7-101713629-TG-AT c.200_201delinsAT p.L67H Missense 4/24 - 1
7-101713630-G-C c.201G>C p.L67= Synonymous 4/24 - 1
7-101713631-A-T c.202A>T p.S68C Missense 4/24 - 1
7-101713631-A-C c.202A>C p.S68R Missense 4/24 - 2
7-101713633-T-A c.204T>A p.S68R Missense 4/24 - 2
7-101713633-T-G c.204T>G p.S68R Missense 4/24 - 2
7-101713634-AAA-GAC c.205_207delinsGAC p.K69D Missense 4/24 - 1
7-101713634-AA-GC c.205_206delinsGC p.K69A Missense 4/24 - 1
7-101713634-A-C c.205A>C p.K69Q Missense 4/24 - 1
7-101713637-A-T c.208A>T p.R70* Nonsense 4/24 - 1
7-101713638-G-C c.209G>C p.R70T Missense 4/24 - 1
7-101713642-C-A c.213C>A p.S71R Missense 4/24 - 1
7-101713642-C-G c.213C>G p.S71R Missense 4/24 - 1
7-101713643-AA-GC c.214_215delinsGC p.K72A Missense 4/24 - 1
7-101713643-AAG-CAT c.214_216delinsCAT p.K72H Missense 4/24 - 1
7-101713646-G-A c.217G>A p.E73K Missense 4/24 - 2
7-101713649-G-A c.220G>A p.A74T Missense 4/24 - 2
7-101713649-GC-TT c.220_221delinsTT p.A74F Missense 4/24 - 1
7-101713650-C-T c.221C>T p.A74V Missense 4/24 - 2
7-101713652-G-T c.223G>T p.E75* Nonsense 4/24 - 1
7-101713653-A-G c.224A>G p.E75G Missense 4/24 - 1
7-101713655-G-A c.226G>A p.A76T Missense 4/24 - 3
7-101713655-GCA-TTT c.226_228delinsTTT p.A76F Missense 4/24 - 1
7-101713656-C-T c.227C>T p.A76V Missense 4/24 - 2
7-101713658-G-C c.229G>C p.A77P Missense 4/24 - 1
7-101713658-GC-TG c.229_230delinsTG p.A77C Missense 4/24 - 2
7-101713659-C-T c.230C>T p.A77V Missense 4/24 - 1
7-101713659-CT-AG c.230_231inv p.A77E Missense 4/24 - 2
7-101713659-CT-C c.233del p.F78Sfs*2 Frameshift 4/24 - 1
7-101713665-T-A c.236T>A p.L79* Nonsense 4/24 - 1
7-101713666-G-C c.237G>C p.L79F Missense 4/24 - 1
7-101713666-G-T c.237G>T p.L79F Missense 4/24 - 1
7-101713669-T-A c.240T>A p.N80K Missense 4/24 - 1
7-101713669-T-G c.240T>G p.N80K Missense 4/24 - 1
7-101713671-T-C c.242T>C p.V81A Missense 4/24 - 2
7-101713676-AA-GC c.247_248delinsGC p.K83A Missense 4/24 - 1
7-101713676-A-C c.247A>C p.K83Q Missense 4/24 - 2
7-101713676-A-G c.247A>G p.K83E Missense 4/24 - 1
7-101713676-A-T c.247A>T p.K83* Nonsense 4/24 - 1
7-101713677-A-G c.248A>G p.K83R Missense 4/24 - 1
7-101713685-A-G c.256A>G p.I86V Missense 4/24 - 1
7-101713679-AGATT-A c.257_260del p.I86Tfs*46 Frameshift 4/24 - 1
7-101713689-A-G c.260A>G p.D87G Missense 4/24 - 1
7-101713690-C-T c.261C>T p.D87= Synonymous 4/24 - 1
7-101713691-G-A c.262G>A p.V88I Missense 4/24 - 11
7-101713691-G-C c.262G>C p.V88L Missense 4/24 - 2
7-101713694-C-T c.265C>T p.P89S Missense 4/24 - 1
7-101713695-C-A c.266C>A p.P89Q Missense 4/24 - 1
7-101713697-G-A c.268G>A p.D90N Missense 4/24 - 3
7-101713751-G-A c.268+54G>A - IntronicSNV - 4/23 1
7-101722836-A-G c.268+9139A>G - IntronicSNV - 4/23 1
7-101728961-C-T c.269-11683C>T - IntronicSNV - 4/23 1
7-101737041-G-A c.269-3603G>A - IntronicSNV - 4/23 1
7-101740606-T-A c.269-38T>A - IntronicSNV - 4/23 1
7-101740606-T-G c.269-38T>G - IntronicSNV - 4/23 1
7-101740610-C-A c.269-34C>A - IntronicSNV - 4/23 1
7-101740644-A-C c.269A>C p.D90A Missense 5/24 - 1
7-101740646-C-T c.271C>T p.P91S Missense 5/24 - 1
7-101740649-G-A c.274G>A p.V92I Missense 5/24 - 3
7-101740650-T-C c.275T>C p.V92A Missense 5/24 - 1
7-101740651-A-G c.276A>G p.V92= Synonymous 5/24 - 1
7-101740656-C-A c.281C>A p.A94D Missense 5/24 - 3
7-101740656-C-T c.281C>T p.A94V Missense 5/24 - 1
7-101740656-CT-AG c.281_282inv p.A94E Missense 5/24 - 1
7-101740658-T-A c.283T>A p.L95M Missense 5/24 - 1
7-101740660-G-A c.285G>A p.L95= Synonymous 5/24 - 1
7-101740661-G-A c.286G>A p.D96N Missense 5/24 - 2
7-101740664-CTC-ATG c.289_291delinsATG p.L97M Missense 5/24 - 1
7-101740668-G-A c.293G>A p.G98E Missense 5/24 - 4
7-101740672-G-C c.297G>C p.Q99H Missense 5/24 - 1
7-101740676-C-T c.301C>T p.L101F Missense 5/24 - 1
7-101740678-C-A c.303C>A p.L101= Synonymous 5/24 - 3
7-101740678-C-G c.303C>G p.L101= Synonymous 5/24 - 3
7-101740678-C-T c.303C>T p.L101= Synonymous 5/24 - 4
7-101740679-CCAGCTCAAAGT-C c.304_314del p.Q102Afs*7 Frameshift 5/24 - 1
7-101740679-C-T c.304C>T p.Q102* Nonsense 5/24 - 3
7-101740682-C-G c.307C>G p.L103V Missense 5/24 - 1
7-101740682-C-T c.307C>T p.L103F Missense 5/24 - 1
7-101740682-GC-G c.307del p.L103Sfs*30 Frameshift 5/24 - 1
7-101740684-TC-T c.309del p.V105Cfs*28 Frameshift 5/24 - 1
7-101740685-A-G c.310A>G p.K104E Missense 5/24 - 1
7-101740686-A-G c.311A>G p.K104R Missense 5/24 - 1
7-101740688-G-T c.313G>T p.V105L Missense 5/24 - 2
7-101740691-C-T c.316C>T p.Q106* Nonsense 5/24 - 1
7-101740694-C-G c.319C>G p.R107G Missense 5/24 - 1
7-101740694-C-T c.319C>T p.R107C Missense 5/24 - 5
7-101740695-G-A c.320G>A p.R107H Missense 5/24 - 1
7-101740695-G-C c.320G>C p.R107P Missense 5/24 - 1
7-101740698-T-C c.323T>C p.L108P Missense 5/24 - 2
7-101740698-TG-AT c.323_324delinsAT p.L108H Missense 5/24 - 1
7-101740697-C-T c.322C>T p.L108= Synonymous 5/24 - 1
7-101740699-G-A c.324G>A p.L108= Synonymous 5/24 - 1
7-101740699-G-C c.324G>C p.L108= Synonymous 5/24 - 1
7-101740699-G-T c.324G>T p.L108= Synonymous 5/24 - 1
7-101740702-C-T c.327C>T p.H109= Synonymous 5/24 - 3
7-101740703-G-A c.328G>A p.D110N Missense 5/24 - 2
7-101740703-G-T c.328G>T p.D110Y Missense 5/24 - 1
7-101740703-G-GAGGTTACGATAAAAGCACTTAAAGAGAAAATCCGAGAATATGAACAGACACTGAAGAACCAAGCC c.329_330insGGTTACGATAAAAGCACTTAAAGAGAAAATCCGAGAATATGAACAGACACTGAAGAACCAAGCCA p.D110Efs*45 Frameshift 5/24 - 1
7-101740704-A-C c.329A>C p.D110A Missense 5/24 - 1
7-101740704-A-G c.329A>G p.D110G Missense 5/24 - 1
7-101740707-T-C c.332T>C p.I111T Missense 5/24 - 1
7-101740708-T-G c.333T>G p.I111M Missense 5/24 - 1
7-101740709-G-T c.334G>T p.E112* Nonsense 5/24 - 1
7-101740711-A-G c.336A>G p.E112= Synonymous 5/24 - 1
7-101740712-A-AC c.338dup p.E114Rfs*6 Frameshift 5/24 - 1
7-101740713-CA-TG c.338_339inv p.T113M Missense 5/24 - 1
7-101740715-G-A c.340G>A p.E114K Missense 5/24 - 2
7-101740713-CAG-C c.342_343del p.N115Pfs*4 Frameshift 5/24 - 1
7-101740719-A-G c.344A>G p.N115S Missense 5/24 - 1
7-101740721-C-T c.346C>T p.Q116* Nonsense 5/24 - 1
7-101740723-G-T c.348G>T p.Q116H Missense 5/24 - 1
7-101740727-C-T c.352C>T p.L118F Missense 5/24 - 2
7-101740730-AG-CA c.355_356delinsCA p.R119Q Missense 5/24 - 1
7-101740730-AG-CT c.355_356inv p.R119L Missense 5/24 - 1
7-101740733-G-A c.358G>A p.E120K Missense 5/24 - 1
7-101740733-G-C c.358G>C p.E120Q Missense 5/24 - 1
7-101740736-A-C c.361A>C p.T121P Missense 5/24 - 1
7-101740736-A-G c.361A>G p.T121A Missense 5/24 - 2
7-101740739-CTG-TTT c.364_366delinsTTT p.L122F Missense 5/24 - 1
7-101740740-T-A c.365T>A p.L122Q Missense 5/24 - 1
7-101740740-T-G c.365T>G p.L122R Missense 5/24 - 3
7-101740743-A-T c.368A>T p.E123V Missense 5/24 - 1
7-101740745-G-T c.370G>T p.E124* Nonsense 5/24 - 5
7-101740746-A-C c.371A>C p.E124A Missense 5/24 - 3
7-101740749-A-T c.374A>T p.Y125F Missense 5/24 - 1
7-101740748-TAC-T c.375_376del p.Y125* Frameshift 5/24 - 1
7-101740752-A-G c.377A>G p.N126S Missense 5/24 - 3
7-101740754-A-T c.379A>T p.K127* Nonsense 5/24 - 1
7-101740756-G-T c.381G>T p.K127N Missense 5/24 - 1
7-101740757-G-A c.382G>A p.E128K Missense 5/24 - 1
7-101740758-A-T c.383A>T p.E128V Missense 5/24 - 2
7-101740759-A-C c.384A>C p.E128D Missense 5/24 - 1
7-101740759-A-T c.384A>T p.E128D Missense 5/24 - 2
7-101740760-T-C c.385T>C p.F129L Missense 5/24 - 2
7-101740762-T-A c.387T>A p.F129L Missense 5/24 - 2
7-101740762-T-G c.387T>G p.F129L Missense 5/24 - 2
7-101740763-G-A c.388G>A p.A130T Missense 5/24 - 1
7-101740765-T-A c.390T>A p.A130= Synonymous 5/24 - 1
7-101740766-G-A c.391G>A p.E131K Missense 5/24 - 5
7-101740766-G-GAGGTTACGATAAAAGCACTTAAAGAGAAAATCCGAGAATATGAACAGACACTGAAGAACCAAGCC c.392_393insGGTTACGATAAAAGCACTTAAAGAGAAAATCCGAGAATATGAACAGACACTGAAGAACCAAGCCA p.K133Tfs*22 Frameshift 5/24 - 1
7-101740767-A-T c.392A>T p.E131V Missense 5/24 - 1
7-101740768-A-T c.393A>T p.E131D Missense 5/24 - 1
7-101740769-G-A c.394G>A p.V132M Missense 5/24 - 1
7-101740769-G-T c.394G>T p.V132L Missense 5/24 - 1
7-101740772-A-T c.397A>T p.K133* Nonsense 5/24 - 1
7-101740773-A-G c.398A>G p.K133R Missense 5/24 - 1
7-101740773-A-T c.398A>T p.K133I Missense 5/24 - 1
7-101740774-A-T c.399A>T p.K133N Missense 5/24 - 1
7-101740775-A-T c.400A>T p.N134Y Missense 5/24 - 1
7-101740776-A-T c.401A>T p.N134I Missense 5/24 - 1
7-101740778-C-A c.403C>A p.Q135K Missense 5/24 - 1
7-101740779-A-T c.404A>T p.Q135L Missense 5/24 - 1
7-101740780-A-T c.405A>T p.Q135H Missense 5/24 - 1
7-101740781-G-A c.406G>A p.E136K Missense 5/24 - 3
7-101740781-G-GAGGTTACGATAAAAGCACTTAAAGAGAAAATCCGAGAATATGAACAGACACTGAAGAACCAAGCC c.406_406+1insAGGTTACGATAAAAGCACTTAAAGAGAAAATCCGAGAATATGAACAGACACTGAAGAACCAAGCC p.E158Rfs*4 SpliceDonorInsertion - - 1
7-101740781-G-T c.406G>T p.E136* Nonsense 5/24 - 1
7-101740827-T-TTC c.406+46_406+47insTC - IntronicInsertion - 5/23 1
7-101740827-T-TTTC c.406+46_406+47insTTC - IntronicInsertion - 5/23 1
7-101747575-A-C c.407-41A>C - IntronicSNV - 5/23 2
7-101747575-A-G c.407-41A>G - IntronicSNV - 5/23 2
7-101747575-A-T c.407-41A>T - IntronicSNV - 5/23 2
7-101747616-A-G c.407A>G p.E136G Missense 6/24 - 1
7-101747621-A-C c.412A>C p.T138P Missense 6/24 - 1
7-101747621-AC-GA c.412_413delinsGA p.T138E Missense 6/24 - 1
7-101747621-A-G c.412A>G p.T138A Missense 6/24 - 2
7-101747622-AC-A c.413del p.T138Rfs*2 Frameshift 6/24 - 1
7-101747622-C-A c.413C>A p.T138K Missense 6/24 - 1
7-101747622-C-T c.413C>T p.T138M Missense 6/24 - 1
7-101747623-G-A c.414G>A p.T138= Synonymous 6/24 - 4
7-101747623-G-C c.414G>C p.T138= Synonymous 6/24 - 2
7-101747623-G-T c.414G>T p.T138= Synonymous 6/24 - 3
7-101747624-A-T c.415A>T p.I139L Missense 6/24 - 1
7-101747625-T-A c.416T>A p.I139K Missense 6/24 - 1
7-101747627-A-G c.418A>G p.K140E Missense 6/24 - 1
7-101747630-AG-A c.421del p.A141Hfs*13 Frameshift 6/24 - 1
7-101747630-G-C c.421G>C p.A141P Missense 6/24 - 1
7-101747631-C-A c.422C>A p.A141E Missense 6/24 - 1
7-101747632-A-C c.423A>C p.A141= Synonymous 6/24 - 1
7-101747632-A-G c.423A>G p.A141= Synonymous 6/24 - 1
7-101747632-A-T c.423A>T p.A141= Synonymous 6/24 - 1
7-101747633-C-A c.424C>A p.L142I Missense 6/24 - 2
7-101747633-CT-GC c.424_425delinsGC p.L142A Missense 6/24 - 1
7-101747634-T-A c.425T>A p.L142H Missense 6/24 - 1
7-101747634-T-C c.425T>C p.L142P Missense 6/24 - 1
7-101747639-G-A c.430G>A p.E144K Missense 6/24 - 1
7-101747639-G-T c.430G>T p.E144* Nonsense 6/24 - 1
7-101747641-G-A c.432G>A p.E144= Synonymous 6/24 - 4
7-101747641-G-C c.432G>C p.E144D Missense 6/24 - 1
7-101747641-G-GT c.432_433insT p.K145* Nonsense 6/24 - 1
7-101747641-G-T c.432G>T p.E144D Missense 6/24 - 1
7-101747644-A-C c.435A>C p.K145N Missense 6/24 - 1
7-101747646-T-A c.437T>A p.I146N Missense 6/24 - 2
7-101747646-T-C c.437T>C p.I146T Missense 6/24 - 1
7-101747646-T-TCCAGGTTACGATAAAAGCACTTAAAGAGAAAATCCGAGAATATGAACAGACACTGAAGAACCAAG c.439_440insAGGTTACGATAAAAGCACTTAAAGAGAAAATCCGAGAATATGAACAGACACTGAAGAACCAAGCC p.R147Qfs*29 Frameshift 6/24 - 1
7-101747648-C-T c.439C>T p.R147* Nonsense 6/24 - 6
7-101747649-G-A c.440G>A p.R147Q Missense 6/24 - 2
7-101747649-G-T c.440G>T p.R147L Missense 6/24 - 1
7-101747651-G-A c.442G>A p.E148K Missense 6/24 - 3
7-101747651-G-T c.442G>T p.E148* Nonsense 6/24 - 1
7-101747654-T-A c.445T>A p.Y149N Missense 6/24 - 1
7-101747655-A-T c.446A>T p.Y149F Missense 6/24 - 1
7-101747657-G-A c.448G>A p.E150K Missense 6/24 - 1
7-101747657-G-T c.448G>T p.E150* Nonsense 6/24 - 1
7-101747659-A-G c.450A>G p.E150= Synonymous 6/24 - 1
7-101747660-C-A c.451C>A p.Q151K Missense 6/24 - 1
7-101747660-CA-GC c.451_452delinsGC p.Q151A Missense 6/24 - 1
7-101747660-C-T c.451C>T p.Q151* Nonsense 6/24 - 2
7-101747662-G-T c.453G>T p.Q151H Missense 6/24 - 1
7-101747664-C-A c.455C>A p.T152K Missense 6/24 - 1
7-101747666-C-A c.457C>A p.L153M Missense 6/24 - 1
7-101747667-T-C c.458T>C p.L153P Missense 6/24 - 2
7-101747666-C-T c.457C>T p.L153= Synonymous 6/24 - 1
7-101747668-G-A c.459G>A p.L153= Synonymous 6/24 - 1
7-101747668-G-C c.459G>C p.L153= Synonymous 6/24 - 1
7-101747668-G-T c.459G>T p.L153= Synonymous 6/24 - 1
7-101747669-A-G c.460A>G p.K154E Missense 6/24 - 1
7-101747670-A-C c.461A>C p.K154T Missense 6/24 - 1
7-101747671-G-T c.462G>T p.K154N Missense 6/24 - 1
7-101747672-A-G c.463A>G p.N155D Missense 6/24 - 1
7-101747674-C-A c.465C>A p.N155K Missense 6/24 - 1
7-101747675-C-A c.466C>A p.Q156K Missense 6/24 - 1
7-101747675-C-T c.466C>T p.Q156* Nonsense 6/24 - 1
7-101747678-G-A c.469G>A p.A157T Missense 6/24 - 1
7-101747678-G-C c.469G>C p.A157P Missense 6/24 - 2
7-101747678-G-T c.469G>T p.A157S Missense 6/24 - 1
7-101747679-C-A c.470C>A p.A157D Missense 6/24 - 1
7-101747679-C-T c.470C>T p.A157V Missense 6/24 - 4
7-101747680-C-A c.471C>A p.A157= Synonymous 6/24 - 3
7-101747680-C-G c.471C>G p.A157= Synonymous 6/24 - 3
7-101747680-C-T c.471C>T p.A157= Synonymous 6/24 - 3
7-101747681-G-A c.472G>A p.E158K Missense 6/24 - 1
7-101747683-A-C c.474A>C p.E158D Missense 6/24 - 1
7-101747683-A-T c.474A>T p.E158D Missense 6/24 - 1
7-101747684-A-G c.475A>G p.T159A Missense 6/24 - 1
7-101747685-C-A c.476C>A p.T159N Missense 6/24 - 1
7-101747688-T-A c.479T>A p.I160K Missense 6/24 - 1
7-101747690-G-T c.481G>T p.A161S Missense 6/24 - 1
7-101747691-C-A c.482C>A p.A161D Missense 6/24 - 1
7-101747693-C-A c.484C>A p.L162I Missense 6/24 - 1
7-101747693-C-G c.484C>G p.L162V Missense 6/24 - 1
7-101747693-C-T c.484C>T p.L162F Missense 6/24 - 2
7-101747694-T-A c.485T>A p.L162H Missense 6/24 - 1
7-101747694-T-G c.485T>G p.L162R Missense 6/24 - 1
7-101747696-G-C c.487G>C p.E163Q Missense 6/24 - 1
7-101747696-G-T c.487G>T p.E163* Nonsense 6/24 - 1
7-101747697-A-T c.488A>T p.E163V Missense 6/24 - 1
7-101747698-G-C c.489G>C p.E163D Missense 6/24 - 2
7-101747698-G-T c.489G>T p.E163D Missense 6/24 - 3
7-101747701-G-T c.492G>T p.K164N Missense 6/24 - 1
7-101747702-G-T c.493G>T p.E165* Nonsense 6/24 - 1
7-101747704-A-C c.495A>C p.E165D Missense 6/24 - 1
7-101747704-A-T c.495A>T p.E165D Missense 6/24 - 2
7-101747705-C-A c.496C>A p.Q166K Missense 6/24 - 1
7-101747705-CA-GC c.496_497delinsGC p.Q166A Missense 6/24 - 1
7-101747705-C-G c.496C>G p.Q166E Missense 6/24 - 1
7-101747705-C-T c.496C>T p.Q166* Nonsense 6/24 - 1
7-101747706-A-C c.497A>C p.Q166P Missense 6/24 - 1
7-101747707-G-C c.498G>C p.Q166H Missense 6/24 - 1
7-101747707-G-T c.498G>T p.Q166H Missense 6/24 - 1
7-101747708-A-T c.499A>T p.K167* Nonsense 6/24 - 1
7-101747709-A-G c.500A>G p.K167R Missense 6/24 - 1
7-101747710-G-T c.501G>T p.K167N Missense 6/24 - 1
7-101747712-T-A c.503T>A p.L168* Nonsense 6/24 - 2
7-101747712-T-G c.503T>G p.L168* Nonsense 6/24 - 2
7-101747714-C-A c.505C>A p.Q169K Missense 6/24 - 1
7-101747714-C-G c.505C>G p.Q169E Missense 6/24 - 2
7-101747715-A-G c.506A>G p.Q169R Missense 6/24 - 1
7-101747716-G-A c.507G>A p.Q169= Synonymous 6/24 - 4
7-101747716-G-C c.507G>C p.Q169H Missense 6/24 - 1
7-101747716-G-T c.507G>T p.Q169H Missense 6/24 - 2
7-101747717-AA-GC c.508_509delinsGC p.N170A Missense 6/24 - 1
7-101747717-A-G c.508A>G p.N170D Missense 6/24 - 3
7-101747717-A-T c.508A>T p.N170Y Missense 6/24 - 1
7-101747720-G-A c.511G>A p.D171N Missense 6/24 - 7
7-101747720-G-T c.511G>T p.D171Y Missense 6/24 - 1
7-101747722-C-A c.513C>A p.D171E Missense 6/24 - 1
7-101747722-C-CT c.516dup p.A173Cfs*22 Frameshift 6/24 - 1
7-101747726-G-A c.517G>A p.A173T Missense 6/24 - 1
7-101747726-G-T c.517G>T p.A173S Missense 6/24 - 1
7-101747727-C-T c.518C>T p.A173V Missense 6/24 - 1
7-101747728-A-C c.519A>C p.A173= Synonymous 6/24 - 1
7-101747728-A-G c.519A>G p.A173= Synonymous 6/24 - 1
7-101747728-A-T c.519A>T p.A173= Synonymous 6/24 - 1
7-101747729-G-A c.520G>A p.E174K Missense 6/24 - 1
7-101747729-GAA-CAT c.520_522delinsCAT p.E174H Missense 6/24 - 1
7-101747729-GA-CT c.520_521delinsCT p.E174L Missense 6/24 - 1
7-101747729-G-T c.520G>T p.E174* Nonsense 6/24 - 2
7-101747730-A-C c.521A>C p.E174A Missense 6/24 - 2
7-101747731-A-AT c.522_523insT p.K175* Nonsense 6/24 - 1
7-101747731-A-C c.522A>C p.E174D Missense 6/24 - 1
7-101747731-A-T c.522A>T p.E174D Missense 6/24 - 2
7-101747732-A-G c.523A>G p.K175E Missense 6/24 - 1
7-101747732-A-T c.523A>T p.K175* Nonsense 6/24 - 1
7-101747733-A-G c.524A>G p.K175R Missense 6/24 - 1
7-101747733-A-T c.524A>T p.K175M Missense 6/24 - 1
7-101747734-G-A c.525G>A p.K175= Synonymous 6/24 - 1
7-101747734-G-T c.525G>T p.K175N Missense 6/24 - 1
7-101747735-G-T c.526G>T p.E176* Nonsense 6/24 - 1
7-101747736-A-G c.527A>G p.E176G Missense 6/24 - 1
7-101747737-G-A c.528G>A p.E176= Synonymous 6/24 - 1
7-101747737-G-T c.528G>T p.E176D Missense 6/24 - 1
7-101747738-AG-CA c.529_530delinsCA p.R177Q Missense 6/24 - 1
7-101747738-A-T c.529A>T p.R177* Nonsense 6/24 - 2
7-101747739-G-T c.530G>T p.R177I Missense 6/24 - 1
7-101747740-G-A c.530+1G>A - IntronicSNV - 6/23 1
7-101749181-A-G c.530+1442A>G - IntronicSNV - 6/23 1
7-101754865-T-C c.531-113T>C - IntronicSNV - 6/23 1
7-101754982-C-G c.535C>G p.L179V Missense 7/24 - 1
7-101754982-CT-TC c.535_536delinsTC p.L179S Missense 7/24 - 1
7-101754983-T-C c.536T>C p.L179P Missense 7/24 - 1
7-101754982-C-T c.535C>T p.L179= Synonymous 7/24 - 1
7-101754984-G-A c.537G>A p.L179= Synonymous 7/24 - 1
7-101754984-G-C c.537G>C p.L179= Synonymous 7/24 - 1
7-101754984-G-T c.537G>T p.L179= Synonymous 7/24 - 1
7-101754986-A-C c.539A>C p.Q180P Missense 7/24 - 3
7-101754987-G-A c.540G>A p.Q180= Synonymous 7/24 - 1
7-101754987-G-C c.540G>C p.Q180H Missense 7/24 - 2
7-101754987-G-T c.540G>T p.Q180H Missense 7/24 - 2
7-101754988-G-A c.541G>A p.E181K Missense 7/24 - 1
7-101754990-G-A c.543G>A p.E181= Synonymous 7/24 - 1
7-101754990-G-C c.543G>C p.E181D Missense 7/24 - 1
7-101754990-GAC-G c.547_548del p.Q183Dfs*11 Frameshift 7/24 - 1
7-101754994-C-CT c.547_548insT p.Q183Lfs*12 Frameshift 7/24 - 1
7-101754996-G-C c.549G>C p.Q183H Missense 7/24 - 1
7-101754997-A-G c.550A>G p.M184V Missense 7/24 - 1
7-101754998-T-C c.551T>C p.M184T Missense 7/24 - 1
7-101754999-G-A c.552G>A p.M184I Missense 7/24 - 1
7-101754999-G-C c.552G>C p.M184I Missense 7/24 - 1
7-101754999-G-T c.552G>T p.M184I Missense 7/24 - 1
7-101755002-C-A c.555C>A p.S185= Synonymous 7/24 - 1
7-101755002-C-G c.555C>G p.S185= Synonymous 7/24 - 1
7-101755002-C-T c.555C>T p.S185= Synonymous 7/24 - 1
7-101755003-AC-A c.558del p.T187Pfs*28 Frameshift 7/24 - 1
7-101755010-C-T c.563C>T p.S188L Missense 7/24 - 2
7-101755011-A-C c.564A>C p.S188= Synonymous 7/24 - 1
7-101755011-A-G c.564A>G p.S188= Synonymous 7/24 - 1
7-101755011-A-T c.564A>T p.S188= Synonymous 7/24 - 1
7-101755014-G-T c.567G>T p.K189N Missense 7/24 - 1
7-101755015-C-A c.568C>A p.L190M Missense 7/24 - 1
7-101755015-C-G c.568C>G p.L190V Missense 7/24 - 1
7-101755015-C-T c.568C>T p.L190= Synonymous 7/24 - 1
7-101755017-G-A c.570G>A p.L190= Synonymous 7/24 - 1
7-101755017-G-C c.570G>C p.L190= Synonymous 7/24 - 1
7-101755017-G-T c.570G>T p.L190= Synonymous 7/24 - 1
7-101755018-G-A c.571G>A p.E191K Missense 7/24 - 1
7-101755019-A-C c.572A>C p.E191A Missense 7/24 - 1
7-101755020-G-C c.573G>C p.E191D Missense 7/24 - 2
7-101755020-G-T c.573G>T p.E191D Missense 7/24 - 2
7-101755021-G-A c.574G>A p.E192K Missense 7/24 - 2
7-101755022-A-G c.575A>G p.E192G Missense 7/24 - 1
7-101755023-A-C c.576A>C p.E192D Missense 7/24 - 1
7-101755023-A-T c.576A>T p.E192D Missense 7/24 - 1
7-101755024-G-A c.577G>A p.A193T Missense 7/24 - 1
7-101755028-A-C c.581A>C p.E194A Missense 7/24 - 1
7-101755028-A-G c.581A>G p.E194G Missense 7/24 - 1
7-101755030-CA-GC c.583_584delinsGC p.H195A Missense 7/24 - 1
7-101755033-A-G c.586A>G p.K196E Missense 7/24 - 1
7-101755036-G-A c.589G>A p.V197I Missense 7/24 - 1
7-101755039-C-T c.592C>T p.Q198* Nonsense 7/24 - 1
7-101755041-G-C c.594G>C p.Q198H Missense 7/24 - 1
7-101755041-G-T c.594G>T p.Q198H Missense 7/24 - 1
7-101755042-AG-CT c.595_596inv p.S199L Missense 7/24 - 2
7-101755043-G-C c.596G>C p.S199T Missense 7/24 - 1
7-101755044-C-G c.597C>G p.S199R Missense 7/24 - 1
7-101755045-CTA-AAC c.598_600delinsAAC p.L200N Missense 7/24 - 1
7-101755048-C-A c.601C>A p.Q201K Missense 7/24 - 1
7-101755048-C-T c.601C>T p.Q201* Nonsense 7/24 - 1
7-101755053-A-C c.606A>C p.T202= Synonymous 7/24 - 1
7-101755053-A-G c.606A>G p.T202= Synonymous 7/24 - 1
7-101755053-A-T c.606A>T p.T202= Synonymous 7/24 - 1
7-101755054-G-A c.607G>A p.A203T Missense 7/24 - 1
7-101755054-G-C c.607G>C p.A203P Missense 7/24 - 1
7-101755060-A-G c.607+6A>G - IntronicSNV - 7/23 6
7-101758492-G-A c.613G>A p.E205K Missense 8/24 - 2
7-101758495-A-G c.616A>G p.K206E Missense 8/24 - 1
7-101758492-GA-G c.619del p.T207Lfs*8 Frameshift 8/24 - 3
7-101758498-A-G c.619A>G p.T207A Missense 8/24 - 1
7-101758499-C-A c.620C>A p.T207N Missense 8/24 - 1
7-101758501-C-A c.622C>A p.R208= Synonymous 8/24 - 1
7-101758501-C-T c.622C>T p.R208* Nonsense 8/24 - 10
7-101758502-G-A c.623G>A p.R208Q Missense 8/24 - 3
7-101758502-G-T c.623G>T p.R208L Missense 8/24 - 1
7-101758505-C-A c.626C>A p.T209K Missense 8/24 - 1
7-101758507-G-A c.628G>A p.E210K Missense 8/24 - 2
7-101758510-T-C c.631T>C p.L211= Synonymous 8/24 - 1
7-101758512-A-G c.633A>G p.L211= Synonymous 8/24 - 1
7-101758512-A-C c.633A>C p.L211F Missense 8/24 - 1
7-101758512-A-T c.633A>T p.L211F Missense 8/24 - 1
7-101758516-G-A c.637G>A p.D213N Missense 8/24 - 1
7-101758519-C-G c.640C>G p.L214V Missense 8/24 - 2
7-101758519-C-T c.640C>T p.L214= Synonymous 8/24 - 1
7-101758521-G-A c.642G>A p.L214= Synonymous 8/24 - 1
7-101758521-G-GA c.646dup p.T216Nfs*5 Frameshift 8/24 - 1
7-101758525-A-C c.646A>C p.T216P Missense 8/24 - 1
7-101758525-A-G c.646A>G p.T216A Missense 8/24 - 1
7-101758527-C-T c.648C>T p.T216= Synonymous 8/24 - 1
7-101758528-A-G c.649A>G p.K217E Missense 8/24 - 1
7-101758531-AT-A c.652del p.Y218Tfs*14 Frameshift 8/24 - 1
7-101758533-C-T c.654C>T p.Y218= Synonymous 8/24 - 1
7-101758534-G-A c.655G>A p.D219N Missense 8/24 - 8
7-101758534-G-T c.655G>T p.D219Y Missense 8/24 - 1
7-101758535-A-G c.656A>G p.D219G Missense 8/24 - 1
7-101758536-T-C c.657T>C p.D219= Synonymous 8/24 - 2
7-101758536-T-G c.657T>G p.D219E Missense 8/24 - 1
7-101758537-G-A c.658G>A p.E220K Missense 8/24 - 1
7-101758538-A-G c.659A>G p.E220G Missense 8/24 - 1
7-101758539-A-AT c.660_661insT p.E221* Nonsense 8/24 - 1
7-101758540-G-A c.661G>A p.E221K Missense 8/24 - 1
7-101758540-G-T c.661G>T p.E221* Nonsense 8/24 - 2
7-101758541-A-T c.662A>T p.E221V Missense 8/24 - 1
7-101758543-AC-TG c.664_665delinsTG p.T222C Missense 8/24 - 1
7-101758544-C-T c.665C>T p.T222I Missense 8/24 - 1
7-101758545-T-C c.666T>C p.T222= Synonymous 8/24 - 1
7-101758547-C-T c.668C>T p.T223I Missense 8/24 - 1
7-101758549-G-A c.670G>A p.A224T Missense 8/24 - 1
7-101758549-G-C c.670G>C p.A224P Missense 8/24 - 1
7-101758550-C-T c.671C>T p.A224V Missense 8/24 - 1
7-101758564-C-T c.674+11C>T - IntronicSNV - 8/23 1
7-101758584-G-A c.674+31G>A - IntronicSNV - 8/23 3
7-101768975-CA-C c.674+10439del - IntronicDeletion - 8/23 1
7-101771546-G-A c.674+12993G>A - IntronicSNV - 8/23 1
7-101775597-G-A c.674+17044G>A - IntronicSNV - 8/23 1
7-101791679-C-T c.675-10161C>T - IntronicSNV - 8/23 1
7-101801660-G-A c.675-180G>A - IntronicSNV - 8/23 1
7-101801660-G-T c.675-180G>T - IntronicSNV - 8/23 1
7-101801842-C-T c.677C>T p.A226V Missense 9/24 - 1
7-101801843-C-T c.678C>T p.A226= Synonymous 9/24 - 2
7-101801844-G-A c.679G>A p.D227N Missense 9/24 - 4
7-101801847-G-A c.682G>A p.E228K Missense 9/24 - 3
7-101801849-G-C c.684G>C p.E228D Missense 9/24 - 1
7-101801851-T-A c.686T>A p.I229N Missense 9/24 - 2
7-101801853-G-T c.688G>T p.E230* Nonsense 9/24 - 1
7-101801854-A-G c.689A>G p.E230G Missense 9/24 - 1
7-101801857-T-C c.692T>C p.M231T Missense 9/24 - 1
7-101801859-A-G c.694A>G p.I232V Missense 9/24 - 1
7-101801861-C-T c.696C>T p.I232= Synonymous 9/24 - 1
7-101801864-G-A c.699G>A p.M233I Missense 9/24 - 1
7-101801865-A-G c.700A>G p.T234A Missense 9/24 - 1
7-101801865-A-T c.700A>T p.T234S Missense 9/24 - 1
7-101801866-C-T c.701C>T p.T234M Missense 9/24 - 3
7-101801874-G-C c.709G>C p.E237Q Missense 9/24 - 2
7-101801874-GA-G c.712del p.R238Gfs*16 Frameshift 9/24 - 2
7-101801878-G-A c.713G>A p.R238K Missense 9/24 - 1
7-101801879-G-C c.714G>C p.R238S Missense 9/24 - 1
7-101801879-G-T c.714G>T p.R238S Missense 9/24 - 2
7-101801880-G-C c.715G>C p.A239P Missense 9/24 - 1
7-101801881-C-T c.716C>T p.A239V Missense 9/24 - 1
7-101801882-A-C c.717A>C p.A239= Synonymous 9/24 - 1
7-101801883-A-T c.718A>T p.N240Y Missense 9/24 - 1
7-101801885-C-G c.720C>G p.N240K Missense 9/24 - 1
7-101801886-C-T c.721C>T p.Q241* Nonsense 9/24 - 1
7-101801889-G-A c.723+1G>A - IntronicSNV - 9/23 1
7-101801890-T-C c.723+2T>C - IntronicSNV - 9/23 1
7-101801920-C-A c.723+32C>A - IntronicSNV - 9/23 1
7-101809851-A-G c.724-3875A>G - IntronicSNV - 9/23 3
7-101810050-C-T c.724-3676C>T - IntronicSNV - 9/23 1
7-101810359-C-A c.724-3367C>A - IntronicSNV - 9/23 1
7-101813727-G-T c.725G>T p.R242M Missense 10/24 - 1
7-101813728-G-A c.726G>A p.R242= Synonymous 10/24 - 1
7-101813728-G-T c.726G>T p.R242S Missense 10/24 - 1
7-101813729-G-C c.727G>C p.A243P Missense 10/24 - 1
7-101813730-C-T c.728C>T p.A243V Missense 10/24 - 1
7-101813732-G-T c.730G>T p.E244* Nonsense 10/24 - 1
7-101813738-G-A c.736G>A p.A246T Missense 10/24 - 2
7-101813738-G-T c.736G>T p.A246S Missense 10/24 - 1
7-101813739-C-G c.737C>G p.A246G Missense 10/24 - 1
7-101813739-C-T c.737C>T p.A246V Missense 10/24 - 1
7-101813741-C-T c.739C>T p.Q247* Nonsense 10/24 - 2
7-101813743-G-A c.741G>A p.Q247= Synonymous 10/24 - 2
7-101813743-G-C c.741G>C p.Q247H Missense 10/24 - 1
7-101813743-G-T c.741G>T p.Q247H Missense 10/24 - 1
7-101813744-A-G c.742A>G p.R248G Missense 10/24 - 1
7-101813745-G-T c.743G>T p.R248I Missense 10/24 - 2
7-101813747-G-C c.745G>C p.E249Q Missense 10/24 - 1
7-101813749-G-A c.747G>A p.E249= Synonymous 10/24 - 1
7-101813749-G-C c.747G>C p.E249D Missense 10/24 - 1
7-101813751-C-T c.749C>T p.A250V Missense 10/24 - 6
7-101813753-G-A c.751G>A p.E251K Missense 10/24 - 1
7-101813758-C-G c.756C>G p.T252= Synonymous 10/24 - 1
7-101813758-C-T c.756C>T p.T252= Synonymous 10/24 - 1
7-101813759-TT-AG c.757_758delinsAG p.L253R Missense 10/24 - 1
7-101813761-A-AT c.759_760insT p.R254* Nonsense 10/24 - 1
7-101813762-A-T c.760A>T p.R254W Missense 10/24 - 2
7-101813764-G-C c.762G>C p.R254S Missense 10/24 - 1
7-101813766-A-T c.764A>T p.E255V Missense 10/24 - 2
7-101813768-C-T c.766C>T p.Q256* Nonsense 10/24 - 1
7-101813769-A-G c.767A>G p.Q256R Missense 10/24 - 1
7-101813770-G-C c.768G>C p.Q256H Missense 10/24 - 1
7-101813770-G-T c.768G>T p.Q256H Missense 10/24 - 1
7-101813771-C-A c.769C>A p.L257I Missense 10/24 - 3
7-101813771-C-T c.769C>T p.L257F Missense 10/24 - 2
7-101813778-CG-AT c.776_777delinsAT p.S259Y Missense 10/24 - 1
7-101813778-C-T c.776C>T p.S259L Missense 10/24 - 3
7-101813779-G-A c.777G>A p.S259= Synonymous 10/24 - 1
7-101813779-G-T c.777G>T p.S259= Synonymous 10/24 - 1
7-101813780-G-A c.778G>A p.A260T Missense 10/24 - 1
7-101813781-C-T c.779C>T p.A260V Missense 10/24 - 1
7-101813783-AA-GC c.781_782delinsGC p.N261A Missense 10/24 - 1
7-101813786-C-T c.784C>T p.H262Y Missense 10/24 - 1
7-101813789-T-A c.787T>A p.S263T Missense 10/24 - 1
7-101813789-T-G c.787T>G p.S263A Missense 10/24 - 1
7-101813790-C-G c.788C>G p.S263C Missense 10/24 - 2
7-101813791-C-T c.789C>T p.S263= Synonymous 10/24 - 1
7-101813792-C-T c.790C>T p.L264F Missense 10/24 - 1
7-101813795-C-A c.793C>A p.Q265K Missense 10/24 - 1
7-101813797-G-C c.795G>C p.Q265H Missense 10/24 - 1
7-101813798-C-A c.796C>A p.L266M Missense 10/24 - 1
7-101813807-C-T c.805C>T p.Q269* Nonsense 10/24 - 1
7-101813812-C-G c.810C>G p.I270M Missense 10/24 - 1
7-101813813-C-A c.811C>A p.Q271K Missense 10/24 - 1
7-101813815-G-C c.813G>C p.Q271H Missense 10/24 - 1
7-101813815-G-T c.813G>T p.Q271H Missense 10/24 - 1
7-101813816-A-G c.814A>G p.K272E Missense 10/24 - 1
7-101813818-G-A c.816G>A p.K272= Synonymous 10/24 - 1
7-101813819-G-C c.817G>C p.A273P Missense 10/24 - 1
7-101813822-C-T c.820C>T p.P274S Missense 10/24 - 1
7-101813823-C-G c.821C>G p.P274R Missense 10/24 - 1
7-101813823-C-T c.821C>T p.P274L Missense 10/24 - 1
7-101813825-G-A c.823G>A p.D275N Missense 10/24 - 1
7-101813827-C-T c.825C>T p.D275= Synonymous 10/24 - 2
7-101813828-G-C c.826G>C p.V276L Missense 10/24 - 2
7-101813828-G-T c.826G>T p.V276L Missense 10/24 - 2
7-101813829-T-G c.827T>G p.V276G Missense 10/24 - 1
7-101813924-T-A c.828+94T>A - IntronicSNV - 10/23 1
7-101813968-TTGC-T c.828+140_828+142del - IntronicDeletion - 10/23 1
7-101821749-G-A c.829G>A p.E277K Missense 11/24 - 1
7-101821751-G-A c.831G>A p.E277= Synonymous 11/24 - 2
7-101821753-A-AG c.835dup p.A279Gfs*13 Frameshift 11/24 - 1
7-101821756-C-T c.836C>T p.A279V Missense 11/24 - 1
7-101821757-CAT-C c.839_840del p.I280Rfs*11 Frameshift 11/24 - 1
7-101821761-G-A c.841G>A p.E281K Missense 11/24 - 1
7-101821761-G-C c.841G>C p.E281Q Missense 11/24 - 2
7-101821759-TAG-T c.842_843del p.E281Gfs*10 Frameshift 11/24 - 1
7-101821762-AG-A c.844del p.V282Cfs*2 Frameshift 11/24 - 1
7-101821764-G-A c.844G>A p.V282M Missense 11/24 - 1
7-101821764-GTG-ATC c.844_846delinsATC p.V282I Missense 11/24 - 1
7-101821766-G-A c.846G>A p.V282= Synonymous 11/24 - 1
7-101821766-G-C c.846G>C p.V282= Synonymous 11/24 - 1
7-101821766-G-T c.846G>T p.V282= Synonymous 11/24 - 2
7-101821767-C-T c.847C>T p.L283= Synonymous 11/24 - 1
7-101821771-C-T c.851C>T p.T284I Missense 11/24 - 1
7-101821773-C-A c.853C>A p.R285S Missense 11/24 - 1
7-101821774-G-A c.854G>A p.R285H Missense 11/24 - 4
7-101821776-TC-CT c.856_857delinsCT p.S286L Missense 11/24 - 1
7-101821780-G-T c.860G>T p.S287I Missense 11/24 - 1
7-101821782-CTA-TTT c.862_864delinsTTT p.L288F Missense 11/24 - 1
7-101821785-G-A c.865G>A p.E289K Missense 11/24 - 1
7-101821786-A-G c.866A>G p.E289G Missense 11/24 - 1
7-101821788-G-T c.868G>T p.V290F Missense 11/24 - 1
7-101821789-T-C c.869T>C p.V290A Missense 11/24 - 4
7-101821793-G-C c.873G>C p.E291D Missense 11/24 - 2
7-101821793-G-T c.873G>T p.E291D Missense 11/24 - 1
7-101821794-T-C c.874T>C p.L292= Synonymous 11/24 - 1
7-101821796-G-A c.876G>A p.L292= Synonymous 11/24 - 1
7-101821795-T-C c.875T>C p.L292S Missense 11/24 - 1
7-101821796-G-C c.876G>C p.L292F Missense 11/24 - 1
7-101821796-G-T c.876G>T p.L292F Missense 11/24 - 3
7-101821798-C-T c.878C>T p.A293V Missense 11/24 - 3
7-101821799-C-A c.879C>A p.A293= Synonymous 11/24 - 1
7-101821799-C-G c.879C>G p.A293= Synonymous 11/24 - 1
7-101821799-C-T c.879C>T p.A293= Synonymous 11/24 - 2
7-101821800-G-A c.880G>A p.A294T Missense 11/24 - 3
7-101821800-G-C c.880G>C p.A294P Missense 11/24 - 1
7-101821801-C-G c.881C>G p.A294G Missense 11/24 - 1
7-101821801-C-T c.881C>T p.A294V Missense 11/24 - 1
7-101821803-A-T c.883A>T p.K295* Nonsense 11/24 - 1
7-101821808-G-A c.888G>A p.E296= Synonymous 11/24 - 1
7-101821808-G-C c.888G>C p.E296D Missense 11/24 - 1
7-101821809-C-G c.889C>G p.R297G Missense 11/24 - 1
7-101821809-C-T c.889C>T p.R297W Missense 11/24 - 4
7-101821810-G-A c.890G>A p.R297Q Missense 11/24 - 4
7-101821810-G-T c.890G>T p.R297L Missense 11/24 - 1
7-101821816-T-C c.896T>C p.I299T Missense 11/24 - 1
7-101821817-C-A c.897C>A p.I299= Synonymous 11/24 - 3
7-101821817-C-G c.897C>G p.I299M Missense 11/24 - 1
7-101821817-C-T c.897C>T p.I299= Synonymous 11/24 - 9
7-101821819-C-T c.899C>T p.A300V Missense 11/24 - 1
7-101821822-A-G c.902A>G p.Q301R Missense 11/24 - 1
7-101821823-G-A c.903G>A p.Q301= Synonymous 11/24 - 2
7-101821827-G-A c.907G>A p.V303M Missense 11/24 - 1
7-101821827-GT-TA c.907_908delinsTA p.V303* Nonsense 11/24 - 1
7-101821829-G-T c.909G>T p.V303= Synonymous 11/24 - 1
7-101821831-A-G c.911A>G p.E304G Missense 11/24 - 1
7-101821833-G-A c.913G>A p.D305N Missense 11/24 - 2
7-101821834-A-G c.914A>G p.D305G Missense 11/24 - 1
7-101821833-G-GACACTCAAAC c.915_916insACTCAAACAC p.V306Tfs*26 Frameshift 11/24 - 1
7-101821835-C-T c.915C>T p.D305= Synonymous 11/24 - 4
7-101821836-G-A c.916G>A p.V306M Missense 11/24 - 1
7-101821839-C-T c.919C>T p.Q307* Nonsense 11/24 - 1
7-101821842-AG-CA c.922_923delinsCA p.R308Q Missense 11/24 - 2
7-101821843-G-A c.923G>A p.R308K Missense 11/24 - 1
7-101821843-G-C c.923G>C p.R308T Missense 11/24 - 1
7-101821851-G-T c.931G>T p.A311S Missense 11/24 - 1
7-101821852-C-T c.932C>T p.A311V Missense 11/24 - 1
7-101821855-G-A c.935G>A p.S312N Missense 11/24 - 1
7-101821855-G-GCACTCAAACA c.936_937insACTCAAACAC p.L313Tfs*19 Frameshift 11/24 - 1
7-101821861-C-A c.941C>A p.T314N Missense 11/24 - 1
7-101821861-C-T c.941C>T p.T314I Missense 11/24 - 1
7-101821863-AA-GC c.943_944delinsGC p.K315A Missense 11/24 - 1
7-101821865-G-A c.945G>A p.K315= Synonymous 11/24 - 1
7-101821865-G-T c.945G>T p.K315N Missense 11/24 - 1
7-101821866-C-T c.946C>T p.L316= Synonymous 11/24 - 1
7-101821868-TG-T c.948del p.R317Gfs*15 Frameshift 11/24 - 1
7-101821869-CG-GC c.949_950delinsGC p.R317A Missense 11/24 - 1
7-101821869-C-T c.949C>T p.R317W Missense 11/24 - 5
7-101821870-G-A c.950G>A p.R317Q Missense 11/24 - 2
7-101821871-G-T c.951G>T p.R317= Synonymous 11/24 - 1
7-101821872-G-A c.952G>A p.E318K Missense 11/24 - 1
7-101821872-G-C c.952G>C p.E318Q Missense 11/24 - 1
7-101821879-C-G c.959C>G p.S320W Missense 11/24 - 1
7-101821879-C-T c.959C>T p.S320L Missense 11/24 - 4
7-101821881-G-A c.961G>A p.A321T Missense 11/24 - 1
7-101821881-G-T c.961G>T p.A321S Missense 11/24 - 1
7-101821882-C-T c.962C>T p.A321V Missense 11/24 - 2
7-101821883-C-CT c.963_964insT p.S322* Nonsense 11/24 - 1
7-101821885-G-T c.965G>T p.S322I Missense 11/24 - 1
7-101821886-C-G c.966C>G p.S322R Missense 11/24 - 1
7-101821897-A-T c.977A>T p.Q326L Missense 11/24 - 1
7-101821906-A-G c.986A>G p.Q329R Missense 11/24 - 2
7-101821908-C-G c.988C>G p.Q330E Missense 11/24 - 1
7-101821910-G-A c.990G>A p.Q330= Synonymous 11/24 - 1
7-101821910-G-T c.990G>T p.Q330H Missense 11/24 - 1
7-101821911-C-T c.991C>T p.L331= Synonymous 11/24 - 1
7-101821913-G-A c.993G>A p.L331= Synonymous 11/24 - 1
7-101821913-G-C c.993G>C p.L331= Synonymous 11/24 - 1
7-101821913-G-T c.993G>T p.L331= Synonymous 11/24 - 2
7-101821916-C-T c.996C>T p.S332= Synonymous 11/24 - 1
7-101821917-G-A c.997G>A p.A333T Missense 11/24 - 2
7-101821918-C-T c.998C>T p.A333V Missense 11/24 - 1
7-101821919-C-A c.999C>A p.A333= Synonymous 11/24 - 1
7-101821919-C-G c.999C>G p.A333= Synonymous 11/24 - 1
7-101821919-C-T c.999C>T p.A333= Synonymous 11/24 - 1
7-101821923-A-G c.1003A>G p.N335D Missense 11/24 - 1
7-101821919-CA-C c.1004del p.N335Tfs*20 Frameshift 11/24 - 2
7-101821925-C-A c.1005C>A p.N335K Missense 11/24 - 1
7-101821923-A-AACACTCAAAC c.1006_1007insCTCAAACACA p.S336Tfs*18 Frameshift 11/24 - 1
7-101821926-AG-CC c.1006_1007delinsCC p.S336P Missense 11/24 - 1
7-101821926-AG-GC c.1006_1007delinsGC p.S336A Missense 11/24 - 1
7-101821926-A-C c.1006A>C p.S336R Missense 11/24 - 1
7-101821928-C-A c.1008C>A p.S336R Missense 11/24 - 1
7-101821928-C-G c.1008C>G p.S336R Missense 11/24 - 1
7-101821930-CA-TG c.1010_1011inv p.T337M Missense 11/24 - 1
7-101821932-C-T c.1012C>T p.L338F Missense 11/24 - 1
7-101821933-T-A c.1013T>A p.L338H Missense 11/24 - 1
7-101821933-T-C c.1013T>C p.L338P Missense 11/24 - 1
7-101821997-C-T c.1017+60C>T - IntronicSNV - 11/23 1
7-101822000-G-A c.1017+63G>A - IntronicSNV - 11/23 1
7-101822000-G-T c.1017+63G>T - IntronicSNV - 11/23 1
7-101822293-C-A c.1017+356C>A - IntronicSNV - 11/23 1
7-101825426-G-A c.1017+3489G>A - IntronicSNV - 11/23 1
7-101825426-G-C c.1017+3489G>C - IntronicSNV - 11/23 1
7-101828877-T-G c.1018-4216T>G - IntronicSNV - 11/23 1
7-101829857-G-GTGTA c.1018-3235_1018-3234insGTAT - IntronicInsertion - 11/23 1
7-101832645-C-G c.1018-448C>G - IntronicSNV - 11/23 1
7-101832645-C-T c.1018-448C>T - IntronicSNV - 11/23 1
7-101833044-C-T c.1018-49C>T - IntronicSNV - 11/23 3
7-101833093-GC-G c.1018del p.Q340Nfs*15 Frameshift 12/24 - 1
7-101833092-G-GCACACTCAAA c.1019_1020insCACTCAAACA p.Q340Hfs*14 SpliceAcceptorInsertion 12/24 - 1
7-101833094-A-G c.1019A>G p.Q340R Missense 12/24 - 1
7-101833095-A-T c.1020A>T p.Q340H Missense 12/24 - 1
7-101833096-CTG-TTT c.1021_1023delinsTTT p.L341F Missense 12/24 - 1
7-101833099-G-A c.1024G>A p.E342K Missense 12/24 - 4
7-101833099-G-T c.1024G>T p.E342* Nonsense 12/24 - 1
7-101833100-A-C c.1025A>C p.E342A Missense 12/24 - 1
7-101833102-G-A c.1027G>A p.E343K Missense 12/24 - 3
7-101833103-A-C c.1028A>C p.E343A Missense 12/24 - 1
7-101833106-A-G c.1031A>G p.K344R Missense 12/24 - 1
7-101833102-GA-G c.1032del p.K344Nfs*11 Frameshift 12/24 - 2
7-101833107-A-G c.1032A>G p.K344= Synonymous 12/24 - 1
7-101833111-A-T c.1036A>T p.K346* Nonsense 12/24 - 1
7-101833110-CA-C c.1038del p.G347Afs*8 Frameshift 12/24 - 2
7-101833113-A-T c.1038A>T p.K346N Missense 12/24 - 2
7-101833118-A-G c.1043A>G p.Q348R Missense 12/24 - 1
7-101833121-C-CCACTCAAACA c.1046_1047insCACTCAAACA p.D350Tfs*4 Frameshift 12/24 - 1
7-101833121-C-T c.1046C>T p.A349V Missense 12/24 - 5
7-101833122-T-A c.1047T>A p.A349= Synonymous 12/24 - 3
7-101833122-T-C c.1047T>C p.A349= Synonymous 12/24 - 3
7-101833122-T-G c.1047T>G p.A349= Synonymous 12/24 - 3
7-101833126-T-C c.1051T>C p.Y351H Missense 12/24 - 1
7-101833126-T-TACACTCAAAC c.1052_1053insCACTCAAACA p.E352Tfs*4 Frameshift 12/24 - 1
7-101833129-G-A c.1054G>A p.E352K Missense 12/24 - 1
7-101833132-G-A c.1057G>A p.E353K Missense 12/24 - 1
7-101833132-G-C c.1057G>C p.E353Q Missense 12/24 - 1
7-101833132-G-T c.1057G>T p.E353* Nonsense 12/24 - 3
7-101833135-G-A c.1060G>A p.V354M Missense 12/24 - 1
7-101833140-G-A c.1065G>A p.K355= Synonymous 12/24 - 2
7-101833146-G-A c.1071G>A p.E357= Synonymous 12/24 - 1
7-101833146-G-C c.1071G>C p.E357D Missense 12/24 - 1
7-101833148-T-C c.1073T>C p.L358P Missense 12/24 - 3
7-101833150-A-T c.1075A>T p.N359Y Missense 12/24 - 1
7-101833156-G-A c.1076+5G>A - IntronicSNV - 12/23 1
7-101834081-G-A c.1076+930G>A - IntronicSNV - 12/23 1
7-101834081-G-C c.1076+930G>C - IntronicSNV - 12/23 1
7-101837122-C-T c.1077C>T p.N359= Synonymous 13/24 - 1
7-101837123-A-T c.1078A>T p.I360F Missense 13/24 - 1
7-101837123-ATT-CAA c.1078_1080delinsCAA p.I360Q Missense 13/24 - 1
7-101837129-A-G c.1084A>G p.K362E Missense 13/24 - 1
7-101837129-A-T c.1084A>T p.K362* Nonsense 13/24 - 3
7-101837131-G-T c.1086G>T p.K362N Missense 13/24 - 1
7-101837135-A-G c.1090A>G p.M364V Missense 13/24 - 1
7-101837136-T-C c.1091T>C p.M364T Missense 13/24 - 1
7-101837137-G-A c.1092G>A p.M364I Missense 13/24 - 2
7-101837137-G-C c.1092G>C p.M364I Missense 13/24 - 2
7-101837137-G-T c.1092G>T p.M364I Missense 13/24 - 2
7-101837138-G-A c.1093G>A p.E365K Missense 13/24 - 1
7-101837141-T-C c.1096T>C p.F366L Missense 13/24 - 1
7-101837145-C-T c.1100C>T p.A367V Missense 13/24 - 2
7-101837147-C-A c.1102C>A p.P368T Missense 13/24 - 1
7-101837148-C-T c.1103C>T p.P368L Missense 13/24 - 2
7-101837149-G-A c.1104G>A p.P368= Synonymous 13/24 - 7
7-101837149-G-C c.1104G>C p.P368= Synonymous 13/24 - 5
7-101837149-G-T c.1104G>T p.P368= Synonymous 13/24 - 5
7-101837150-T-C c.1105T>C p.S369P Missense 13/24 - 3
7-101837153-G-A c.1108G>A p.E370K Missense 13/24 - 2
7-101837158-C-A c.1113C>A p.G371= Synonymous 13/24 - 1
7-101837158-C-G c.1113C>G p.G371= Synonymous 13/24 - 1
7-101837158-C-T c.1113C>T p.G371= Synonymous 13/24 - 1
7-101837159-G-A c.1114G>A p.A372T Missense 13/24 - 8
7-101837160-C-T c.1115C>T p.A372V Missense 13/24 - 3
7-101837161-T-A c.1116T>A p.A372= Synonymous 13/24 - 3
7-101837161-T-C c.1116T>C p.A372= Synonymous 13/24 - 3
7-101837161-T-G c.1116T>G p.A372= Synonymous 13/24 - 3
7-101837163-G-A c.1118G>A p.G373E Missense 13/24 - 2
7-101837166-C-T c.1121C>T p.T374I Missense 13/24 - 1
7-101837327-T-C c.1125+157T>C - IntronicSNV - 13/23 1
7-101838787-G-T c.1126G>T p.D376Y Missense 14/24 - 1
7-101838792-G-A c.1131G>A p.A377= Synonymous 14/24 - 6
7-101838792-G-C c.1131G>C p.A377= Synonymous 14/24 - 1
7-101838792-G-T c.1131G>T p.A377= Synonymous 14/24 - 1
7-101838793-G-A c.1132G>A p.A378T Missense 14/24 - 1
7-101838793-G-C c.1132G>C p.A378P Missense 14/24 - 1
7-101838794-C-T c.1133C>T p.A378V Missense 14/24 - 1
7-101838796-A-C c.1135A>C p.K379Q Missense 14/24 - 1
7-101838801-C-G c.1140C>G p.P380= Synonymous 14/24 - 1
7-101838809-T-G c.1148T>G p.V383G Missense 14/24 - 1
7-101838811-C-T c.1150C>T p.L384= Synonymous 14/24 - 1
7-101838813-G-A c.1152G>A p.L384= Synonymous 14/24 - 1
7-101838813-G-C c.1152G>C p.L384= Synonymous 14/24 - 1
7-101838813-G-T c.1152G>T p.L384= Synonymous 14/24 - 1
7-101838817-C-A c.1156C>A p.L386M Missense 14/24 - 1
7-101838821-A-C c.1160A>C p.E387A Missense 14/24 - 1
7-101838823-A-C c.1162A>C p.K388Q Missense 14/24 - 1
7-101838825-G-A c.1164G>A p.K388= Synonymous 14/24 - 1
7-101838826-A-G c.1165A>G p.N389D Missense 14/24 - 1
7-101838826-A-T c.1165A>T p.N389Y Missense 14/24 - 1
7-101838827-A-G c.1166A>G p.N389S Missense 14/24 - 1
7-101838829-C-A c.1168C>A p.R390S Missense 14/24 - 2
7-101838830-G-A c.1169G>A p.R390H Missense 14/24 - 1
7-101838832-T-A c.1171T>A p.S391T Missense 14/24 - 1
7-101838833-C-G c.1172C>G p.S391W Missense 14/24 - 1
7-101838833-C-T c.1172C>T p.S391L Missense 14/24 - 1
7-101838835-C-T c.1174C>T p.L392= Synonymous 14/24 - 1
7-101838839-A-G c.1178A>G p.Q393R Missense 14/24 - 1
7-101838840-G-C c.1179G>C p.Q393H Missense 14/24 - 1
7-101838840-G-T c.1179G>T p.Q393H Missense 14/24 - 1
7-101838841-T-C c.1180T>C p.S394P Missense 14/24 - 3
7-101838841-TC-CT c.1180_1181delinsCT p.S394L Missense 14/24 - 1
7-101838843-C-A c.1182C>A p.S394= Synonymous 14/24 - 1
7-101838843-C-G c.1182C>G p.S394= Synonymous 14/24 - 1
7-101838843-C-T c.1182C>T p.S394= Synonymous 14/24 - 1
7-101838844-G-A c.1183G>A p.E395K Missense 14/24 - 2
7-101838845-A-G c.1184A>G p.E395G Missense 14/24 - 1
7-101838849-C-T c.1188C>T p.N396= Synonymous 14/24 - 2
7-101838850-G-A c.1189G>A p.A397T Missense 14/24 - 5
7-101838850-G-T c.1189G>T p.A397S Missense 14/24 - 2
7-101838851-C-T c.1190C>T p.A397V Missense 14/24 - 1
7-101838854-C-A c.1193C>A p.A398E Missense 14/24 - 1
7-101838854-CG-AC c.1193_1194delinsAC p.A398D Missense 14/24 - 1
7-101838854-C-T c.1193C>T p.A398V Missense 14/24 - 3
7-101838855-G-A c.1194G>A p.A398= Synonymous 14/24 - 1
7-101838855-G-C c.1194G>C p.A398= Synonymous 14/24 - 1
7-101838855-G-T c.1194G>T p.A398= Synonymous 14/24 - 1
7-101838856-C-A c.1195C>A p.L399M Missense 14/24 - 1
7-101838859-C-A c.1198C>A p.R400S Missense 14/24 - 1
7-101838860-G-A c.1199G>A p.R400H Missense 14/24 - 3
7-101838860-G-C c.1199G>C p.R400P Missense 14/24 - 1
7-101838860-G-T c.1199G>T p.R400L Missense 14/24 - 1
7-101838865-T-A c.1204T>A p.S402T Missense 14/24 - 1
7-101838866-C-G c.1205C>G p.S402C Missense 14/24 - 1
7-101838870-C-T c.1209C>T p.N403= Synonymous 14/24 - 1
7-101838871-A-G c.1210A>G p.S404G Missense 14/24 - 1
7-101838871-AG-GA c.1210_1211delinsGA p.S404D Missense 14/24 - 1
7-101838871-AG-GC c.1210_1211delinsGC p.S404A Missense 14/24 - 1
7-101838871-A-C c.1210A>C p.S404R Missense 14/24 - 1
7-101838873-C-A c.1212C>A p.S404R Missense 14/24 - 1
7-101838873-C-G c.1212C>G p.S404R Missense 14/24 - 2
7-101838873-C-T c.1212C>T p.S404= Synonymous 14/24 - 1
7-101838874-G-A c.1213G>A p.D405N Missense 14/24 - 2
7-101838875-A-C c.1214A>C p.D405A Missense 14/24 - 1
7-101838876-C-T c.1215C>T p.D405= Synonymous 14/24 - 1
7-101838879-G-C c.1218G>C p.L406= Synonymous 14/24 - 1
7-101838883-G-A c.1222G>A p.G408R Missense 14/24 - 2
7-101838923-C-T c.1222+40C>T - IntronicSNV - 14/23 1
7-101838941-G-A c.1222+58G>A - IntronicSNV - 14/23 1
7-101839915-G-A c.1224G>A p.G408= Synonymous 15/24 - 1
7-101839915-G-C c.1224G>C p.G408= Synonymous 15/24 - 1
7-101839915-G-T c.1224G>T p.G408= Synonymous 15/24 - 1
7-101839916-T-A c.1225T>A p.S409T Missense 15/24 - 1
7-101839919-G-A c.1228G>A p.A410T Missense 15/24 - 2
7-101839921-C-A c.1230C>A p.A410= Synonymous 15/24 - 1
7-101839921-C-G c.1230C>G p.A410= Synonymous 15/24 - 1
7-101839921-C-T c.1230C>T p.A410= Synonymous 15/24 - 1
7-101839922-AG-GC c.1231_1232delinsGC p.R411A Missense 15/24 - 2
7-101839922-AGG-CAT c.1231_1233delinsCAT p.R411H Missense 15/24 - 2
7-101839922-AGG-TGT c.1231_1233delinsTGT p.R411C Missense 15/24 - 4
7-101839922-A-C c.1231A>C p.R411= Synonymous 15/24 - 1
7-101839924-G-A c.1233G>A p.R411= Synonymous 15/24 - 1
7-101839925-AG-TA c.1234_1235delinsTA p.R412* Nonsense 15/24 - 1
7-101839926-G-A c.1235G>A p.R412K Missense 15/24 - 1
7-101839926-G-T c.1235G>T p.R412M Missense 15/24 - 1
7-101839937-G-A c.1246G>A p.D416N Missense 15/24 - 1
7-101839938-A-C c.1247A>C p.D416A Missense 15/24 - 1
7-101839938-A-G c.1247A>G p.D416G Missense 15/24 - 1
7-101839941-A-T c.1250A>T p.Q417L Missense 15/24 - 1
7-101839943-C-T c.1252C>T p.P418S Missense 15/24 - 2
7-101839944-C-T c.1253C>T p.P418L Missense 15/24 - 2
7-101839947-A-C c.1256A>C p.E419A Missense 15/24 - 1
7-101839949-AGT-TGA c.1258_1260delinsTGA p.S420* Nonsense 15/24 - 1
7-101839952-C-T c.1261C>T p.R421W Missense 15/24 - 5
7-101839953-G-A c.1262G>A p.R421Q Missense 15/24 - 1
7-101839955-CGC-TGA c.1264_1266delinsTGA p.R422* Nonsense 15/24 - 1
7-101839955-C-T c.1264C>T p.R422C Missense 15/24 - 4
7-101839956-G-A c.1265G>A p.R422H Missense 15/24 - 1
7-101839957-C-A c.1266C>A p.R422= Synonymous 15/24 - 2
7-101839957-C-G c.1266C>G p.R422= Synonymous 15/24 - 2
7-101839957-C-T c.1266C>T p.R422= Synonymous 15/24 - 2
7-101839960-G-A c.1269G>A p.P423= Synonymous 15/24 - 2
7-101839960-G-C c.1269G>C p.P423= Synonymous 15/24 - 1
7-101839964-T-A c.1273T>A p.S425T Missense 15/24 - 1
7-101839964-TC-CT c.1273_1274delinsCT p.S425L Missense 15/24 - 1
7-101839965-C-A c.1274C>A p.S425Y Missense 15/24 - 2
7-101839965-C-G c.1274C>G p.S425C Missense 15/24 - 1
7-101839965-C-CT c.1277dup p.L426Ffs*21 Frameshift 15/24 - 1
7-101839970-C-T c.1279C>T p.P427S Missense 15/24 - 3
7-101839971-C-T c.1280C>T p.P427L Missense 15/24 - 3
7-101839972-G-A c.1281G>A p.P427= Synonymous 15/24 - 3
7-101839972-G-C c.1281G>C p.P427= Synonymous 15/24 - 5
7-101839972-G-T c.1281G>T p.P427= Synonymous 15/24 - 2
7-101839973-G-A c.1282G>A p.A428T Missense 15/24 - 2
7-101839973-G-C c.1282G>C p.A428P Missense 15/24 - 8
7-101839974-C-T c.1283C>T p.A428V Missense 15/24 - 1
7-101839975-C-T c.1284C>T p.A428= Synonymous 15/24 - 2
7-101839976-C-T c.1285C>T p.P429S Missense 15/24 - 2
7-101839977-C-T c.1286C>T p.P429L Missense 15/24 - 7
7-101839978-C-A c.1287C>A p.P429= Synonymous 15/24 - 1
7-101839978-C-G c.1287C>G p.P429= Synonymous 15/24 - 1
7-101839978-C-T c.1287C>T p.P429= Synonymous 15/24 - 1
7-101839979-C-A c.1288C>A p.P430T Missense 15/24 - 1
7-101839979-C-G c.1288C>G p.P430A Missense 15/24 - 2
7-101839979-C-T c.1288C>T p.P430S Missense 15/24 - 4
7-101839973-GC-G c.1289del p.P430Lfs*27 Frameshift 15/24 - 4
7-101839973-G-GC c.1289dup p.P431Sfs*16 Frameshift 15/24 - 5
7-101839980-C-CT c.1290dup p.P431Sfs*16 Frameshift 15/24 - 2
7-101839978-CCCT-C c.1291_1293del p.P431del InFrameDeletion 15/24 - 1
7-101839982-C-CA c.1291_1292insA p.P431Hfs*16 Frameshift 15/24 - 1
7-101839983-C-T c.1292C>T p.P431L Missense 15/24 - 1
7-101839988-C-T c.1297C>T p.Q433* Nonsense 15/24 - 3
7-101839991-T-A c.1300T>A p.L434M Missense 15/24 - 1
7-101839991-TT-CC c.1300_1301delinsCC p.L434P Missense 15/24 - 1
7-101839991-TTG-ATC c.1300_1302delinsATC p.L434I Missense 15/24 - 1
7-101839991-TT-GC c.1300_1301delinsGC p.L434A Missense 15/24 - 1
7-101839993-G-A c.1302G>A p.L434= Synonymous 15/24 - 1
7-101839995-C-T c.1304C>T p.P435L Missense 15/24 - 1
7-101839997-C-G c.1306C>G p.R436G Missense 15/24 - 1
7-101839997-C-T c.1306C>T p.R436C Missense 15/24 - 1
7-101839998-G-GT c.1307_1308insT p.N437Qfs*10 Frameshift 15/24 - 1
7-101840000-A-C c.1309A>C p.N437H Missense 15/24 - 3
7-101840004-C-T c.1313C>T p.P438L Missense 15/24 - 4
7-101840004-C-CGA c.1314_1315insAG p.G439Rfs*19 Frameshift 15/24 - 1
7-101840005-G-A c.1314G>A p.P438= Synonymous 15/24 - 2
7-101840005-G-C c.1314G>C p.P438= Synonymous 15/24 - 2
7-101840005-G-T c.1314G>T p.P438= Synonymous 15/24 - 2
7-101840006-G-C c.1315G>C p.G439R Missense 15/24 - 2
7-101840006-G-GC c.1315_1316insC p.G439Afs*8 Frameshift 15/24 - 3
7-101840006-G-T c.1315G>T p.G439W Missense 15/24 - 1
7-101840007-G-A c.1316G>A p.G439E Missense 15/24 - 1
7-101840007-G-GC c.1316_1317insC p.E440Gfs*7 Frameshift 15/24 - 1
7-101840007-G-T c.1316G>T p.G439V Missense 15/24 - 3
7-101840004-C-CG c.1318dup p.E440Gfs*7 Frameshift 15/24 - 1
7-101840009-G-A c.1318G>A p.E440K Missense 15/24 - 1
7-101840009-G-C c.1318G>C p.E440Q Missense 15/24 - 1
7-101840012-C-G c.1321C>G p.Q441E Missense 15/24 - 2
7-101840013-A-AC c.1322_1323insC p.Q441Hfs*6 Frameshift 15/24 - 1
7-101840013-A-G c.1322A>G p.Q441R Missense 15/24 - 1
7-101840013-CA-C c.1322del p.Q441Rfs*16 Frameshift 15/24 - 1
7-101840014-G-A c.1323G>A p.Q441= Synonymous 15/24 - 1
7-101840014-G-T c.1323G>T p.Q441H Missense 15/24 - 1
7-101840016-C-T c.1325C>T p.A442V Missense 15/24 - 1
7-101840018-T-C c.1327T>C p.S443P Missense 15/24 - 2
7-101840019-CC-AA c.1328_1329delinsAA p.S443* Nonsense 15/24 - 1
7-101840019-C-T c.1328C>T p.S443F Missense 15/24 - 2
7-101840023-T-A c.1332T>A p.N444K Missense 15/24 - 1
7-101840024-A-G c.1333A>G p.T445A Missense 15/24 - 2
7-101840025-CT-TG c.1334_1335delinsTG p.T445M Missense 15/24 - 1
7-101840029-T-A c.1338T>A p.N446K Missense 15/24 - 1
7-101840029-T-G c.1338T>G p.N446K Missense 15/24 - 1
7-101840030-G-A c.1339G>A p.G447S Missense 15/24 - 1
7-101840031-G-T c.1340G>T p.G447V Missense 15/24 - 1
7-101840033-A-G c.1342A>G p.T448A Missense 15/24 - 3
7-101840035-A-C c.1344A>C p.T448= Synonymous 15/24 - 1
7-101840035-A-G c.1344A>G p.T448= Synonymous 15/24 - 1
7-101840035-A-T c.1344A>T p.T448= Synonymous 15/24 - 1
7-101840036-C-A c.1345C>A p.H449N Missense 15/24 - 1
7-101840037-A-T c.1346A>T p.H449L Missense 15/24 - 1
7-101840038-C-T c.1347C>T p.H449= Synonymous 15/24 - 4
7-101840040-A-T c.1349A>T p.Q450L Missense 15/24 - 1
7-101840046-C-T c.1355C>T p.S452L Missense 15/24 - 2
7-101840047-A-C c.1356A>C p.S452= Synonymous 15/24 - 2
7-101840047-A-G c.1356A>G p.S452= Synonymous 15/24 - 2
7-101840047-A-T c.1356A>T p.S452= Synonymous 15/24 - 2
7-101840048-C-G c.1357C>G p.P453A Missense 15/24 - 1
7-101840048-C-T c.1357C>T p.P453S Missense 15/24 - 1
7-101840049-C-T c.1358C>T p.P453L Missense 15/24 - 2
7-101840053-G-A c.1362G>A p.A454= Synonymous 15/24 - 2
7-101840053-G-C c.1362G>C p.A454= Synonymous 15/24 - 1
7-101840053-G-T c.1362G>T p.A454= Synonymous 15/24 - 1
7-101840055-G-A c.1364G>A p.G455E Missense 15/24 - 1
7-101840058-T-A c.1367T>A p.L456* Nonsense 15/24 - 3
7-101840058-T-G c.1367T>G p.L456* Nonsense 15/24 - 3
7-101840058-T-TA c.1369dup p.S457Kfs*110 Frameshift 15/24 - 1
7-101840061-AG-A c.1370del p.S457Ifs*24 Frameshift 15/24 - 1
7-101840061-G-A c.1370G>A p.S457N Missense 15/24 - 1
7-101840063-C-G c.1372C>G p.Q458E Missense 15/24 - 1
7-101840064-A-T c.1373A>T p.Q458L Missense 15/24 - 1
7-101840066-G-A c.1375G>A p.D459N Missense 15/24 - 6
7-101840066-G-T c.1375G>T p.D459Y Missense 15/24 - 3
7-101840066-GACTTTTTC-G c.1377_1384del p.D459Efs*105 Frameshift 15/24 - 1
7-101840070-T-G c.1379T>G p.F460C Missense 15/24 - 1
7-101840076-G-C c.1385G>C p.S462T Missense 15/24 - 1
7-101840077-C-G c.1386C>G p.S462R Missense 15/24 - 1
7-101840078-T-G c.1387T>G p.S463A Missense 15/24 - 1
7-101840079-C-T c.1388C>T p.S463L Missense 15/24 - 3
7-101840081-TC-CT c.1390_1391delinsCT p.S464L Missense 15/24 - 1
7-101840082-C-A c.1391C>A p.S464Y Missense 15/24 - 3
7-101840083-C-A c.1392C>A p.S464= Synonymous 15/24 - 1
7-101840083-C-G c.1392C>G p.S464= Synonymous 15/24 - 1
7-101840083-C-T c.1392C>T p.S464= Synonymous 15/24 - 1
7-101840081-TC-T c.1393del p.L465Wfs*16 Frameshift 15/24 - 1
7-101840084-C-G c.1393C>G p.L465V Missense 15/24 - 2
7-101840088-C-T c.1397C>T p.A466V Missense 15/24 - 1
7-101840091-G-T c.1400G>T p.S467I Missense 15/24 - 2
7-101840090-A-C c.1399A>C p.S467R Missense 15/24 - 1
7-101840092-C-A c.1401C>A p.S467R Missense 15/24 - 1
7-101840092-C-G c.1401C>G p.S467R Missense 15/24 - 1
7-101840093-C-G c.1402C>G p.P468A Missense 15/24 - 1
7-101840095-C-A c.1404C>A p.P468= Synonymous 15/24 - 2
7-101840095-C-G c.1404C>G p.P468= Synonymous 15/24 - 2
7-101840095-C-T c.1404C>T p.P468= Synonymous 15/24 - 2
7-101840096-A-G c.1405A>G p.S469G Missense 15/24 - 3
7-101840098-C-A c.1407C>A p.S469R Missense 15/24 - 1
7-101840099-C-T c.1408C>T p.L470= Synonymous 15/24 - 1
7-101840102-C-A c.1411C>A p.P471T Missense 15/24 - 1
7-101840104-C-T c.1413C>T p.P471= Synonymous 15/24 - 1
7-101840105-C-G c.1414C>G p.L472V Missense 15/24 - 1
7-101840105-C-T c.1414C>T p.L472= Synonymous 15/24 - 3
7-101840111-TC-CT c.1420_1421delinsCT p.S474L Missense 15/24 - 1
7-101840115-C-A c.1424C>A p.T475K Missense 15/24 - 2
7-101840117-G-T c.1426G>T p.G476* Nonsense 15/24 - 1
7-101840118-G-A c.1427G>A p.G476E Missense 15/24 - 1
7-101840118-G-C c.1427G>C p.G476A Missense 15/24 - 1
7-101840121-A-G c.1430A>G p.K477R Missense 15/24 - 1
7-101840123-T-C c.1432T>C p.F478L Missense 15/24 - 1
7-101840123-T-G c.1432T>G p.F478V Missense 15/24 - 1
7-101840125-T-A c.1434T>A p.F478L Missense 15/24 - 1
7-101840125-T-G c.1434T>G p.F478L Missense 15/24 - 1
7-101840127-C-T c.1436C>T p.A479V Missense 15/24 - 1
7-101840130-T-A c.1439T>A p.L480Q Missense 15/24 - 1
7-101840136-C-G c.1445C>G p.S482C Missense 15/24 - 1
7-101840138-C-G c.1447C>G p.L483V Missense 15/24 - 1
7-101840139-T-A c.1448T>A p.L483H Missense 15/24 - 1
7-101840147-C-A c.1456C>A p.R486= Synonymous 15/24 - 1
7-101840147-C-G c.1456C>G p.R486G Missense 15/24 - 1
7-101840147-CG-TA c.1456_1457delinsTA p.R486* Nonsense 15/24 - 1
7-101840147-C-T c.1456C>T p.R486W Missense 15/24 - 1
7-101840148-G-A c.1457G>A p.R486Q Missense 15/24 - 4
7-101840153-C-T c.1462C>T p.L488= Synonymous 15/24 - 1
7-101840155-A-G c.1464A>G p.L488= Synonymous 15/24 - 1
7-101840157-T-A c.1466T>A p.M489K Missense 15/24 - 1
7-101840157-T-C c.1466T>C p.M489T Missense 15/24 - 2
7-101840162-TC-AT c.1471_1472delinsAT p.S491I Missense 15/24 - 1
7-101840162-T-G c.1471T>G p.S491A Missense 15/24 - 1
7-101840163-C-A c.1472C>A p.S491Y Missense 15/24 - 1
7-101840164-C-A c.1473C>A p.S491= Synonymous 15/24 - 1
7-101840164-C-G c.1473C>G p.S491= Synonymous 15/24 - 1
7-101840164-C-T c.1473C>T p.S491= Synonymous 15/24 - 1
7-101840166-T-A c.1475T>A p.F492Y Missense 15/24 - 1
7-101840167-C-A c.1476C>A p.F492L Missense 15/24 - 1
7-101840171-T-C c.1480T>C p.S494P Missense 15/24 - 1
7-101840171-TC-GG c.1480_1481delinsGG p.S494G Missense 15/24 - 1
7-101840176-G-A c.1485G>A p.K495= Synonymous 15/24 - 1
7-101840177-G-A c.1486G>A p.A496T Missense 15/24 - 1
7-101840180-A-G c.1489A>G p.M497V Missense 15/24 - 1
7-101840181-T-A c.1490T>A p.M497K Missense 15/24 - 1
7-101840181-T-C c.1490T>C p.M497T Missense 15/24 - 1
7-101840182-G-A c.1491G>A p.M497I Missense 15/24 - 1
7-101840184-A-G c.1493A>G p.Q498R Missense 15/24 - 1
7-101840185-G-C c.1494G>C p.Q498H Missense 15/24 - 1
7-101840185-G-T c.1494G>T p.Q498H Missense 15/24 - 2
7-101840187-A-G c.1496A>G p.E499G Missense 15/24 - 1
7-101840187-A-T c.1496A>T p.E499V Missense 15/24 - 2
7-101840189-G-T c.1498G>T p.A500S Missense 15/24 - 1
7-101840192-G-A c.1501G>A p.G501R Missense 15/24 - 1
7-101840192-G-C c.1501G>C p.G501R Missense 15/24 - 1
7-101840192-GGA-AGC c.1501_1503delinsAGC p.G501S Missense 15/24 - 1
7-101840194-A-C c.1503A>C p.G501= Synonymous 15/24 - 1
7-101840196-G-A c.1505G>A p.S502N Missense 15/24 - 2
7-101840198-CACAA-C c.1507_1510del p.T503Afs*2 Frameshift 15/24 - 1
7-101840199-C-T c.1508C>T p.T503I Missense 15/24 - 1
7-101840206-G-A c.1515G>A p.M505I Missense 15/24 - 1
7-101840207-A-G c.1516A>G p.I506V Missense 15/24 - 5
7-101840207-A-T c.1516A>T p.I506F Missense 15/24 - 1
7-101840208-T-A c.1517T>A p.I506N Missense 15/24 - 1
7-101840212-T-C c.1521T>C p.F507= Synonymous 15/24 - 1
7-101840214-C-A c.1523C>A p.S508* Nonsense 15/24 - 1
7-101840214-C-G c.1523C>G p.S508* Nonsense 15/24 - 1
7-101840217-C-T c.1526C>T p.T509I Missense 15/24 - 1
7-101840219-G-T c.1528G>T p.G510C Missense 15/24 - 3
7-101840220-G-A c.1529G>A p.G510D Missense 15/24 - 1
7-101840226-A-G c.1535A>G p.Y512C Missense 15/24 - 1
7-101840226-A-T c.1535A>T p.Y512F Missense 15/24 - 1
7-101840227-C-A c.1536C>A p.Y512* Nonsense 15/24 - 1
7-101840227-C-T c.1536C>T p.Y512= Synonymous 15/24 - 1
7-101840233-A-C c.1542A>C p.T514= Synonymous 15/24 - 1
7-101840233-A-G c.1542A>G p.T514= Synonymous 15/24 - 1
7-101840233-A-T c.1542A>T p.T514= Synonymous 15/24 - 1
7-101840234-A-G c.1543A>G p.N515D Missense 15/24 - 2
7-101840236-C-T c.1545C>T p.N515= Synonymous 15/24 - 1
7-101840238-C-G c.1547C>G p.S516C Missense 15/24 - 1
7-101840238-C-T c.1547C>T p.S516F Missense 15/24 - 1
7-101840240-A-G c.1549A>G p.I517V Missense 15/24 - 1
7-101840243-T-A c.1552T>A p.S518T Missense 15/24 - 1
7-101840244-C-T c.1553C>T p.S518F Missense 15/24 - 1
7-101840247-CC-AA c.1556_1557delinsAA p.S519* Nonsense 15/24 - 1
7-101840247-C-T c.1556C>T p.S519F Missense 15/24 - 1
7-101840249-C-T c.1558C>T p.Q520* Nonsense 15/24 - 4
7-101840252-A-G c.1561A>G p.S521G Missense 15/24 - 1
7-101840253-G-A c.1562G>A p.S521N Missense 15/24 - 1
7-101840254-T-C c.1563T>C p.S521= Synonymous 15/24 - 1
7-101840255-C-A c.1564C>A p.P522T Missense 15/24 - 1
7-101840255-C-T c.1564C>T p.P522S Missense 15/24 - 3
7-101840256-C-T c.1565C>T p.P522L Missense 15/24 - 2
7-101840258-T-C c.1567T>C p.L523= Synonymous 15/24 - 1
7-101840258-T-G c.1567T>G p.L523V Missense 15/24 - 3
7-101840260-A-G c.1569A>G p.L523= Synonymous 15/24 - 1
7-101840262-A-G c.1571A>G p.Q524R Missense 15/24 - 1
7-101840264-C-A c.1573C>A p.Q525K Missense 15/24 - 1
7-101840264-C-G c.1573C>G p.Q525E Missense 15/24 - 2
7-101840264-CA-C c.1576del p.S526Afs*39 Frameshift 15/24 - 1
7-101840268-G-A c.1577G>A p.S526N Missense 15/24 - 1
7-101840268-G-C c.1577G>C p.S526T Missense 15/24 - 1
7-101840271-C-G c.1580C>G p.P527R Missense 15/24 - 1
7-101840271-C-T c.1580C>T p.P527L Missense 15/24 - 4
7-101840272-A-AT c.1581_1582insT p.D528* Nonsense 15/24 - 1
7-101840279-A-C c.1588A>C p.N530H Missense 15/24 - 2
7-101840283-G-A c.1592G>A p.G531D Missense 15/24 - 1
7-101840283-G-T c.1592G>T p.G531V Missense 15/24 - 1
7-101840284-GC-G c.1593del p.M532Wfs*33 Frameshift 15/24 - 1
7-101840288-G-C c.1597G>C p.A533P Missense 15/24 - 2
7-101840290-CCCCATCCCCCAGCCAGTCAGAAAGTGCTGGGAGCGTCTCCGAGGGCGAGGAGATGGACA-C c.1600_1658del p.P534Cfs*13 InFrameDeletion 15/24 - 1
7-101840292-C-G c.1601C>G p.P534R Missense 15/24 - 1
7-101840293-A-C c.1602A>C p.P534= Synonymous 15/24 - 1
7-101840293-A-G c.1602A>G p.P534= Synonymous 15/24 - 1
7-101840293-A-T c.1602A>T p.P534= Synonymous 15/24 - 1
7-101840295-C-G c.1604C>G p.S535C Missense 15/24 - 1
7-101840295-C-T c.1604C>T p.S535F Missense 15/24 - 1
7-101840297-C-A c.1606C>A p.P536T Missense 15/24 - 1
7-101840297-C-T c.1606C>T p.P536S Missense 15/24 - 1
7-101840298-C-A c.1607C>A p.P536H Missense 15/24 - 1
7-101840300-A-G c.1609A>G p.S537G Missense 15/24 - 1
7-101840301-G-A c.1610G>A p.S537N Missense 15/24 - 1
7-101840301-G-T c.1610G>T p.S537I Missense 15/24 - 2
7-101840305-G-A c.1614G>A p.Q538= Synonymous 15/24 - 1
7-101840306-TC-GA c.1615_1616inv p.S539E Missense 15/24 - 1
7-101840306-TC-GG c.1615_1616delinsGG p.S539G Missense 15/24 - 1
7-101840306-T-TC c.1616dup p.E540Rfs*27 Frameshift 15/24 - 1
7-101840308-A-C c.1617A>C p.S539= Synonymous 15/24 - 1
7-101840308-A-G c.1617A>G p.S539= Synonymous 15/24 - 1
7-101840308-A-T c.1617A>T p.S539= Synonymous 15/24 - 1
7-101840311-A-C c.1620A>C p.E540D Missense 15/24 - 1
7-101840311-A-G c.1620A>G p.E540= Synonymous 15/24 - 1
7-101840311-A-T c.1620A>T p.E540D Missense 15/24 - 1
7-101840313-G-A c.1622G>A p.S541N Missense 15/24 - 1
7-101840315-G-A c.1624G>A p.A542T Missense 15/24 - 2
7-101840315-G-T c.1624G>T p.A542S Missense 15/24 - 1
7-101840319-G-T c.1628G>T p.G543V Missense 15/24 - 1
7-101840320-G-A c.1629G>A p.G543= Synonymous 15/24 - 2
7-101840320-G-C c.1629G>C p.G543= Synonymous 15/24 - 2
7-101840320-G-T c.1629G>T p.G543= Synonymous 15/24 - 2
7-101840321-A-C c.1630A>C p.S544R Missense 15/24 - 2
7-101840323-C-T c.1632C>T p.S544= Synonymous 15/24 - 1
7-101840324-G-A c.1633G>A p.V545I Missense 15/24 - 4
7-101840326-C-CT c.1636dup p.S546Ffs*21 Frameshift 15/24 - 1
7-101840329-C-A c.1638C>A p.S546= Synonymous 15/24 - 2
7-101840329-C-G c.1638C>G p.S546= Synonymous 15/24 - 2
7-101840329-C-T c.1638C>T p.S546= Synonymous 15/24 - 6
7-101840330-G-A c.1639G>A p.E547K Missense 15/24 - 2
7-101840331-A-G c.1640A>G p.E547G Missense 15/24 - 1
7-101840332-G-T c.1641G>T p.E547D Missense 15/24 - 1
7-101840334-G-A c.1643G>A p.G548D Missense 15/24 - 1
7-101840335-C-A c.1644C>A p.G548= Synonymous 15/24 - 1
7-101840335-C-G c.1644C>G p.G548= Synonymous 15/24 - 1
7-101840335-C-T c.1644C>T p.G548= Synonymous 15/24 - 4
7-101840336-G-A c.1645G>A p.E549K Missense 15/24 - 2
7-101840336-G-T c.1645G>T p.E549* Nonsense 15/24 - 1
7-101840338-G-A c.1647G>A p.E549= Synonymous 15/24 - 1
7-101840339-G-A c.1648G>A p.E550K Missense 15/24 - 1
7-101840343-T-C c.1652T>C p.M551T Missense 15/24 - 1
7-101840344-G-A c.1653G>A p.M551I Missense 15/24 - 3
7-101840344-G-C c.1653G>C p.M551I Missense 15/24 - 1
7-101840344-G-T c.1653G>T p.M551I Missense 15/24 - 1
7-101840349-C-T c.1658C>T p.T553I Missense 15/24 - 1
7-101840351-G-A c.1660G>A p.A554T Missense 15/24 - 1
7-101840354-G-A c.1663G>A p.E555K Missense 15/24 - 1
7-101840357-A-G c.1666A>G p.I556V Missense 15/24 - 1
7-101840359-C-A c.1668C>A p.I556= Synonymous 15/24 - 1
7-101840359-C-T c.1668C>T p.I556= Synonymous 15/24 - 4
7-101840363-C-A c.1672C>A p.R558= Synonymous 15/24 - 1
7-101840363-CGG-TGT c.1672_1674delinsTGT p.R558C Missense 15/24 - 1
7-101840363-C-T c.1672C>T p.R558W Missense 15/24 - 3
7-101840365-G-C c.1674G>C p.R558= Synonymous 15/24 - 1
7-101840365-G-T c.1674G>T p.R558= Synonymous 15/24 - 1
7-101840364-GG-AT c.1673_1674delinsAT p.R558H Missense 15/24 - 1
7-101840365-G-A c.1674G>A p.R558= Synonymous 15/24 - 3
7-101840365-GCAGGT-G c.1677_1681del p.V560Rfs*5 Frameshift 15/24 - 1
7-101840368-G-A c.1677G>A p.Q559= Synonymous 15/24 - 1
7-101840369-G-A c.1678G>A p.V560I Missense 15/24 - 1
7-101840369-G-T c.1678G>T p.V560F Missense 15/24 - 2
7-101840370-T-A c.1679T>A p.V560D Missense 15/24 - 1
7-101840370-T-C c.1679T>C p.V560A Missense 15/24 - 1
7-101840370-TC-AG c.1679_1680delinsAG p.V560E Missense 15/24 - 1
7-101840370-T-G c.1679T>G p.V560G Missense 15/24 - 1
7-101840371-C-A c.1680C>A p.V560= Synonymous 15/24 - 1
7-101840371-C-G c.1680C>G p.V560= Synonymous 15/24 - 1
7-101840371-C-T c.1680C>T p.V560= Synonymous 15/24 - 1
7-101840372-A-G c.1681A>G p.K561E Missense 15/24 - 1
7-101840373-A-G c.1682A>G p.K561R Missense 15/24 - 2
7-101840375-G-A c.1684G>A p.E562K Missense 15/24 - 1
7-101840377-G-A c.1686G>A p.E562= Synonymous 15/24 - 1
7-101840377-G-T c.1686G>T p.E562D Missense 15/24 - 1
7-101840381-C-G c.1690C>G p.L564V Missense 15/24 - 1
7-101840384-A-G c.1693A>G p.I565V Missense 15/24 - 1
7-101840384-A-T c.1693A>T p.I565F Missense 15/24 - 1
7-101840386-T-G c.1695T>G p.I565M Missense 15/24 - 1
7-101840387-AAGCAC-A c.1698_1702del p.H567Yfs*30 Frameshift 15/24 - 1
7-101840389-G-A c.1698G>A p.K566= Synonymous 15/24 - 1
7-101840395-T-C c.1704T>C p.N568= Synonymous 15/24 - 1
7-101840396-A-G c.1705A>G p.I569V Missense 15/24 - 1
7-101840399-G-A c.1708G>A p.G570R Missense 15/24 - 7
7-101840399-G-C c.1708G>C p.G570R Missense 15/24 - 4
7-101840400-G-A c.1709G>A p.G570E Missense 15/24 - 1
7-101840401-GA-G c.1710del p.Q571Nfs*16 Frameshift 15/24 - 1
7-101840402-C-A c.1711C>A p.Q571K Missense 15/24 - 1
7-101840403-A-T c.1712A>T p.Q571L Missense 15/24 - 1
7-101840404-A-T c.1713A>T p.Q571H Missense 15/24 - 1
7-101840405-C-T c.1714C>T p.R572C Missense 15/24 - 2
7-101840406-G-A c.1715G>A p.R572H Missense 15/24 - 3
7-101840408-A-T c.1717A>T p.I573F Missense 15/24 - 1
7-101840409-T-A c.1718T>A p.I573N Missense 15/24 - 1
7-101840414-G-A c.1723G>A p.G575R Missense 15/24 - 2
7-101840414-G-C c.1723G>C p.G575R Missense 15/24 - 1
7-101840418-A-T c.1727A>T p.H576L Missense 15/24 - 1
7-101840421-A-T c.1730A>T p.Y577F Missense 15/24 - 1
7-101840426-T-A c.1735T>A p.L579M Missense 15/24 - 2
7-101840426-T-C c.1735T>C p.L579= Synonymous 15/24 - 1
7-101840426-TT-CC c.1735_1736delinsCC p.L579P Missense 15/24 - 1
7-101840428-G-A c.1737G>A p.L579= Synonymous 15/24 - 1
7-101840429-G-C c.1738G>C p.G580R Missense 15/24 - 1
7-101840429-G-T c.1738G>T p.G580* Nonsense 15/24 - 3
7-101840432-C-T c.1741C>T p.L581= Synonymous 15/24 - 1
7-101840432-CTG-TTT c.1741_1743delinsTTT p.L581F Missense 15/24 - 2
7-101840435-GTCTC-G c.1744_1747del p.S582Kfs*4 Frameshift 15/24 - 2
7-101840435-TC-CT c.1744_1745delinsCT p.S582L Missense 15/24 - 1
7-101840436-C-G c.1745C>G p.S582C Missense 15/24 - 1
7-101840436-CT-AA c.1745_1746delinsAA p.S582* Nonsense 15/24 - 1
7-101840438-C-A c.1747C>A p.Q583K Missense 15/24 - 1
7-101840438-C-T c.1747C>T p.Q583* Nonsense 15/24 - 5
7-101840439-A-T c.1748A>T p.Q583L Missense 15/24 - 1
7-101840440-A-T c.1749A>T p.Q583H Missense 15/24 - 1
7-101840441-G-A c.1750G>A p.G584R Missense 15/24 - 1
7-101840442-G-A c.1751G>A p.G584E Missense 15/24 - 3
7-101840442-G-C c.1751G>C p.G584A Missense 15/24 - 1
7-101840443-G-A c.1752G>A p.G584= Synonymous 15/24 - 1
7-101840443-G-C c.1752G>C p.G584= Synonymous 15/24 - 1
7-101840443-G-T c.1752G>T p.G584= Synonymous 15/24 - 1
7-101840446-C-A c.1755C>A p.S585= Synonymous 15/24 - 2
7-101840446-C-G c.1755C>G p.S585= Synonymous 15/24 - 2
7-101840446-C-T c.1755C>T p.S585= Synonymous 15/24 - 2
7-101840450-AG-TA c.1759_1760delinsTA p.S587Y Missense 15/24 - 1
7-101840450-A-C c.1759A>C p.S587R Missense 15/24 - 2
7-101840452-C-A c.1761C>A p.S587R Missense 15/24 - 2
7-101840452-C-G c.1761C>G p.S587R Missense 15/24 - 2
7-101840452-C-T c.1761C>T p.S587= Synonymous 15/24 - 2
7-101840454-A-T c.1763A>T p.E588V Missense 15/24 - 1
7-101840455-G-A c.1764G>A p.E588= Synonymous 15/24 - 1
7-101840456-A-T c.1765A>T p.I589F Missense 15/24 - 1
7-101840458-TTCTGG-T c.1767_1771del p.L590Pfs*7 Frameshift 15/24 - 1
7-101840459-C-T c.1768C>T p.L590= Synonymous 15/24 - 2
7-101840462-G-T c.1771G>T p.A591S Missense 15/24 - 1
7-101840463-C-T c.1772C>T p.A591V Missense 15/24 - 1
7-101840464-C-A c.1773C>A p.A591= Synonymous 15/24 - 1
7-101840464-C-G c.1773C>G p.A591= Synonymous 15/24 - 1
7-101840464-C-T c.1773C>T p.A591= Synonymous 15/24 - 1
7-101840465-CG-GC c.1774_1775delinsGC p.R592A Missense 15/24 - 1
7-101840466-G-A c.1775G>A p.R592Q Missense 15/24 - 2
7-101840468-C-A c.1777C>A p.P593T Missense 15/24 - 1
7-101840468-C-T c.1777C>T p.P593S Missense 15/24 - 1
7-101840469-C-T c.1778C>T p.P593L Missense 15/24 - 1
7-101840471-A-T c.1780A>T p.K594* Nonsense 15/24 - 1
7-101840474-C-G c.1783C>G p.P595A Missense 15/24 - 1
7-101840477-T-G c.1786T>G p.W596G Missense 15/24 - 1
7-101840481-A-G c.1790A>G p.N597S Missense 15/24 - 2
7-101840482-T-TA c.1794dup p.L599Tfs*19 Frameshift 15/24 - 1
7-101840485-A-G c.1794A>G p.K598= Synonymous 15/24 - 1
7-101840486-C-G c.1795C>G p.L599V Missense 15/24 - 1
7-101840486-C-T c.1795C>T p.L599= Synonymous 15/24 - 1
7-101840495-C-A c.1804C>A p.R602S Missense 15/24 - 1
7-101840495-C-T c.1804C>T p.R602C Missense 15/24 - 2
7-101840496-G-A c.1805G>A p.R602H Missense 15/24 - 4
7-101840496-GT-AA c.1805_1806delinsAA p.R602Q Missense 15/24 - 1
7-101840497-T-G c.1806T>G p.R602= Synonymous 15/24 - 1
7-101840497-TGGCAA-T c.1809_1813del p.K604Afs*12 Frameshift 15/24 - 1
7-101840503-G-T c.1812G>T p.K604N Missense 15/24 - 1
7-101840506-AG-A c.1815del p.E605Dfs*6 Frameshift 15/24 - 1
7-101840506-AGCCAT-A c.1815_1819del p.E605Dfs*11 Frameshift 15/24 - 1
7-101840506-G-C c.1815G>C p.E605D Missense 15/24 - 1
7-101840506-G-T c.1815G>T p.E605D Missense 15/24 - 1
7-101840509-A-C c.1818A>C p.P606= Synonymous 15/24 - 3
7-101840509-A-G c.1818A>G p.P606= Synonymous 15/24 - 3
7-101840509-A-T c.1818A>T p.P606= Synonymous 15/24 - 4
7-101840510-T-A c.1819T>A p.F607I Missense 15/24 - 1
7-101840513-C-T c.1822C>T p.H608Y Missense 15/24 - 1
7-101840515-C-T c.1824C>T p.H608= Synonymous 15/24 - 1
7-101840515-C-CA c.1826dup p.M610Dfs*8 Frameshift 15/24 - 1
7-101840521-G-A c.1830G>A p.M610I Missense 15/24 - 1
7-101840521-G-C c.1830G>C p.M610I Missense 15/24 - 1
7-101840521-G-T c.1830G>T p.M610I Missense 15/24 - 1
7-101840534-TC-CT c.1843_1844delinsCT p.S615L Missense 15/24 - 1
7-101840536-C-A c.1845C>A p.S615= Synonymous 15/24 - 1
7-101840537-G-A c.1846G>A p.D616N Missense 15/24 - 6
7-101840537-G-C c.1846G>C p.D616H Missense 15/24 - 1
7-101840540-G-A c.1849G>A p.E617K Missense 15/24 - 2
7-101840540-G-T c.1849G>T p.E617* Nonsense 15/24 - 1
7-101840543-C-T c.1852C>T p.Q618* Nonsense 15/24 - 2
7-101840547-A-G c.1856A>G p.N619S Missense 15/24 - 2
7-101840548-C-T c.1857C>T p.N619= Synonymous 15/24 - 1
7-101840553-T-C c.1862T>C p.L621P Missense 15/24 - 2
7-101840555-G-C c.1864G>C p.A622P Missense 15/24 - 1
7-101840556-C-T c.1865C>T p.A622V Missense 15/24 - 1
7-101840558-C-T c.1867C>T p.L623F Missense 15/24 - 1
7-101840559-T-G c.1868T>G p.L623R Missense 15/24 - 1
7-101840560-C-T c.1869C>T p.L623= Synonymous 15/24 - 1
7-101840561-C-T c.1870C>T p.R624C Missense 15/24 - 2
7-101840562-G-A c.1871G>A p.R624H Missense 15/24 - 2
7-101840565-G-T c.1874G>T p.S625I Missense 15/24 - 1
7-101840566-C-G c.1875C>G p.S625R Missense 15/24 - 1
7-101840574-G-A c.1883G>A p.G628D Missense 15/24 - 1
7-101840575-C-T c.1884C>T p.G628= Synonymous 15/24 - 1
7-101840576-AG-CA c.1885_1886delinsCA p.R629Q Missense 15/24 - 1
7-101840576-CA-C c.1885del p.R629Dfs*10 Frameshift 15/24 - 1
7-101840577-G-T c.1886G>T p.R629I Missense 15/24 - 1
7-101840579-CA-C c.1891del p.R631Efs*8 Frameshift 15/24 - 1
7-101840582-AGA-CAT c.1891_1893delinsCAT p.R631H Missense 15/24 - 1
7-101840583-G-C c.1892G>C p.R631T Missense 15/24 - 1
7-101840640-A-G c.1894+55A>G - IntronicSNV - 15/23 1
7-101840640-ATG-A c.1894+64_1894+65del - IntronicDeletion - 15/23 1
7-101840716-G-A c.1894+131G>A - IntronicSNV - 15/23 2
7-101842082-A-C c.1895A>C p.E632A Missense 16/24 - 1
7-101842083-G-C c.1896G>C p.E632D Missense 16/24 - 1
7-101842083-G-T c.1896G>T p.E632D Missense 16/24 - 1
7-101842084-A-C c.1897A>C p.N633H Missense 16/24 - 1
7-101842088-C-A c.1901C>A p.P634Q Missense 16/24 - 2
7-101842089-CA-C c.1902del p.G635Afs*4 Frameshift 16/24 - 1
7-101842090-GGC-TGG c.1903_1905delinsTGG p.G635W Missense 16/24 - 1
7-101842090-G-T c.1903G>T p.G635C Missense 16/24 - 1
7-101842092-C-G c.1905C>G p.G635= Synonymous 16/24 - 1
7-101842102-A-AC c.1915_1916insC p.N639Tfs*15 Frameshift 16/24 - 1
7-101842108-C-G c.1921C>G p.L641V Missense 16/24 - 3
7-101842108-C-T c.1921C>T p.L641= Synonymous 16/24 - 1
7-101842110-A-C c.1923A>C p.L641= Synonymous 16/24 - 1
7-101842110-A-G c.1923A>G p.L641= Synonymous 16/24 - 1
7-101842110-A-T c.1923A>T p.L641= Synonymous 16/24 - 1
7-101842117-G-A c.1930G>A p.E644K Missense 16/24 - 1
7-101842120-G-A c.1933G>A p.V645I Missense 16/24 - 1
7-101842125-G-A c.1938G>A p.P646= Synonymous 16/24 - 3
7-101842125-G-C c.1938G>C p.P646= Synonymous 16/24 - 2
7-101842125-G-T c.1938G>T p.P646= Synonymous 16/24 - 2
7-101842129-C-A c.1942C>A p.R648= Synonymous 16/24 - 1
7-101842129-C-T c.1942C>T p.R648* Nonsense 16/24 - 3
7-101842130-G-A c.1943G>A p.R648Q Missense 16/24 - 12
7-101842132-AGA-TGG c.1945_1947delinsTGG p.R649W Missense 16/24 - 1
7-101842132-AGA-TGT c.1945_1947delinsTGT p.R649C Missense 16/24 - 1
7-101842133-G-T c.1946G>T p.R649I Missense 16/24 - 1
7-101842134-A-G c.1947A>G p.R649= Synonymous 16/24 - 1
7-101842138-G-A c.1951G>A p.G651R Missense 16/24 - 1
7-101842138-G-C c.1951G>C p.G651R Missense 16/24 - 1
7-101842138-G-T c.1951G>T p.G651W Missense 16/24 - 1
7-101842140-G-A c.1953G>A p.G651= Synonymous 16/24 - 1
7-101842141-T-C c.1954T>C p.S652P Missense 16/24 - 1
7-101842143-T-A c.1956T>A p.S652= Synonymous 16/24 - 1
7-101842143-T-C c.1956T>C p.S652= Synonymous 16/24 - 1
7-101842143-T-G c.1956T>G p.S652= Synonymous 16/24 - 1
7-101842145-A-T c.1958A>T p.E653V Missense 16/24 - 1
7-101842147-G-A c.1960G>A p.G654S Missense 16/24 - 3
7-101843354-A-C c.1964A>C p.N655T Missense 17/24 - 1
7-101843363-C-T c.1973C>T p.T658I Missense 17/24 - 1
7-101843365-C-A c.1975C>A p.R659= Synonymous 17/24 - 1
7-101843365-CG-TA c.1975_1976delinsTA p.R659* Nonsense 17/24 - 1
7-101843365-C-T c.1975C>T p.R659W Missense 17/24 - 1
7-101843366-G-A c.1976G>A p.R659Q Missense 17/24 - 9
7-101843370-C-T c.1980C>T p.I660= Synonymous 17/24 - 1
7-101843371-CGA-TGT c.1981_1983delinsTGT p.R661C Missense 17/24 - 1
7-101843371-C-T c.1981C>T p.R661* Nonsense 17/24 - 3
7-101843372-G-A c.1982G>A p.R661Q Missense 17/24 - 1
7-101843372-G-T c.1982G>T p.R661L Missense 17/24 - 2
7-101843375-C-T c.1985C>T p.A662V Missense 17/24 - 1
7-101843376-C-T c.1986C>T p.A662= Synonymous 17/24 - 2
7-101843378-C-T c.1988C>T p.S663L Missense 17/24 - 2
7-101843379-G-A c.1989G>A p.S663= Synonymous 17/24 - 1
7-101843381-A-G c.1991A>G p.E664G Missense 17/24 - 1
7-101843386-G-A c.1996G>A p.G666S Missense 17/24 - 1
7-101843387-GC-AG c.1997_1998delinsAG p.G666E Missense 17/24 - 1
7-101843390-C-T c.2000C>T p.S667F Missense 17/24 - 1
7-101843390-CTGA-C c.2004_2006del p.D668del InFrameDeletion 17/24 - 1
7-101843395-G-A c.2005G>A p.E669K Missense 17/24 - 1
7-101843398-G-A c.2008G>A p.A670T Missense 17/24 - 1
7-101843398-G-C c.2008G>C p.A670P Missense 17/24 - 1
7-101843399-C-T c.2009C>T p.A670V Missense 17/24 - 2
7-101843400-C-A c.2010C>A p.A670= Synonymous 17/24 - 1
7-101843400-C-G c.2010C>G p.A670= Synonymous 17/24 - 1
7-101843400-C-T c.2010C>T p.A670= Synonymous 17/24 - 1
7-101843401-A-G c.2011A>G p.I671V Missense 17/24 - 1
7-101843406-G-A c.2016G>A p.K672= Synonymous 17/24 - 1
7-101843408-C-T c.2018C>T p.S673F Missense 17/24 - 2
7-101843409-C-T c.2019C>T p.S673= Synonymous 17/24 - 1
7-101843412-C-G c.2022C>G p.I674M Missense 17/24 - 2
7-101843416-G-T c.2026G>T p.E676* Nonsense 17/24 - 1
7-101843423-C-T c.2033C>T p.A678V Missense 17/24 - 2
7-101843422-G-GC c.2034dup p.K679Qfs*25 Frameshift 17/24 - 1
7-101843424-CCAA-C c.2034_2036del p.K679del InFrameDeletion 17/24 - 1
7-101843426-A-G c.2036A>G p.K679R Missense 17/24 - 1
7-101843432-A-G c.2042A>G p.E681G Missense 17/24 - 1
7-101843433-G-A c.2043G>A p.E681= Synonymous 17/24 - 1
7-101843433-G-T c.2043G>T p.E681D Missense 17/24 - 1
7-101843442-G-A c.2052G>A p.V684= Synonymous 17/24 - 1
7-101843443-C-T c.2053C>T p.Q685* Nonsense 17/24 - 1
7-101843445-G-T c.2055G>T p.Q685H Missense 17/24 - 1
7-101843448-A-T c.2058A>T p.K686N Missense 17/24 - 1
7-101843445-GA-G c.2059del p.T687Lfs*42 Frameshift 17/24 - 2
7-101843450-C-A c.2060C>A p.T687N Missense 17/24 - 1
7-101843452-G-T c.2062G>T p.A688S Missense 17/24 - 1
7-101844641-CAGA-C c.2064_2066del p.E689del SpliceAcceptorDeletion 18/24 - 1
7-101844645-C-T c.2068C>T p.P690S Missense 18/24 - 1
7-101844646-C-T c.2069C>T p.P690L Missense 18/24 - 4
7-101844647-G-A c.2070G>A p.P690= Synonymous 18/24 - 1
7-101844647-G-C c.2070G>C p.P690= Synonymous 18/24 - 1
7-101844647-G-T c.2070G>T p.P690= Synonymous 18/24 - 1
7-101844649-C-T c.2072C>T p.A691V Missense 18/24 - 1
7-101844653-G-C c.2076G>C p.Q692H Missense 18/24 - 1
7-101844654-C-T c.2077C>T p.P693S Missense 18/24 - 1
7-101844655-C-T c.2078C>T p.P693L Missense 18/24 - 1
7-101844656-T-A c.2079T>A p.P693= Synonymous 18/24 - 1
7-101844656-T-C c.2079T>C p.P693= Synonymous 18/24 - 1
7-101844656-T-G c.2079T>G p.P693= Synonymous 18/24 - 1
7-101844663-G-A c.2086G>A p.A696T Missense 18/24 - 2
7-101844665-A-C c.2088A>C p.A696= Synonymous 18/24 - 1
7-101844665-A-G c.2088A>G p.A696= Synonymous 18/24 - 1
7-101844665-A-T c.2088A>T p.A696= Synonymous 18/24 - 1
7-101844666-TC-CG c.2089_2090delinsCG p.S697R Missense 18/24 - 2
7-101844667-C-G c.2090C>G p.S697C Missense 18/24 - 1
7-101844669-G-A c.2092G>A p.G698S Missense 18/24 - 1
7-101844670-G-A c.2093G>A p.G698D Missense 18/24 - 1
7-101844670-G-C c.2093G>C p.G698A Missense 18/24 - 1
7-101844670-G-T c.2093G>T p.G698V Missense 18/24 - 1
7-101844673-G-T c.2096G>T p.S699I Missense 18/24 - 1
7-101844675-G-A c.2098G>A p.G700R Missense 18/24 - 1
7-101844680-C-G c.2103C>G p.N701K Missense 18/24 - 1
7-101844682-C-T c.2105C>T p.S702F Missense 18/24 - 2
7-101844684-G-A c.2107G>A p.D703N Missense 18/24 - 2
7-101844685-A-G c.2108A>G p.D703G Missense 18/24 - 1
7-101844687-G-T c.2110G>T p.D704Y Missense 18/24 - 1
7-101844689-C-A c.2112C>A p.D704E Missense 18/24 - 1
7-101844689-C-T c.2112C>T p.D704= Synonymous 18/24 - 2
7-101844690-G-A c.2113G>A p.A705T Missense 18/24 - 1
7-101844690-G-C c.2113G>C p.A705P Missense 18/24 - 1
7-101844691-C-A c.2114C>A p.A705D Missense 18/24 - 1
7-101844691-C-T c.2114C>T p.A705V Missense 18/24 - 1
7-101844695-C-T c.2118C>T p.I706= Synonymous 18/24 - 3
7-101844696-C-T c.2119C>T p.R707C Missense 18/24 - 6
7-101844697-G-A c.2120G>A p.R707H Missense 18/24 - 2
7-101844697-G-T c.2120G>T p.R707L Missense 18/24 - 1
7-101844702-A-G c.2125A>G p.I709V Missense 18/24 - 1
7-101844706-T-C c.2129T>C p.L710P Missense 18/24 - 1
7-101844708-C-A c.2131C>A p.Q711K Missense 18/24 - 1
7-101844709-A-G c.2132A>G p.Q711R Missense 18/24 - 2
7-101844711-C-T c.2134C>T p.Q712* Nonsense 18/24 - 1
7-101844712-A-G c.2135A>G p.Q712R Missense 18/24 - 1
7-101844715-C-T c.2138C>T p.A713V Missense 18/24 - 1
7-101844716-C-A c.2139C>A p.A713= Synonymous 18/24 - 2
7-101844716-C-G c.2139C>G p.A713= Synonymous 18/24 - 2
7-101844716-C-T c.2139C>T p.A713= Synonymous 18/24 - 2
7-101844717-C-T c.2140C>T p.R714C Missense 18/24 - 2
7-101844720-C-T c.2143C>T p.R715W Missense 18/24 - 1
7-101844721-G-A c.2144G>A p.R715Q Missense 18/24 - 2
7-101844723-G-C c.2146G>C p.E716Q Missense 18/24 - 1
7-101844724-A-C c.2147A>C p.E716A Missense 18/24 - 1
7-101844724-A-G c.2147A>G p.E716G Missense 18/24 - 2
7-101844724-A-T c.2147A>T p.E716V Missense 18/24 - 1
7-101844727-T-C c.2150T>C p.M717T Missense 18/24 - 1
7-101844727-T-G c.2150T>G p.M717R Missense 18/24 - 1
7-101844729-G-C c.2152G>C p.E718Q Missense 18/24 - 1
7-101844732-G-A c.2155G>A p.A719T Missense 18/24 - 1
7-101844733-C-T c.2156C>T p.A719V Missense 18/24 - 3
7-101844734-C-T c.2157C>T p.A719= Synonymous 18/24 - 1
7-101844736-A-T c.2159A>T p.Q720L Missense 18/24 - 1
7-101844740-G-C c.2163G>C p.Q721H Missense 18/24 - 1
7-101844740-G-T c.2163G>T p.Q721H Missense 18/24 - 1
7-101844745-C-T c.2168C>T p.A723V Missense 18/24 - 1
7-101844749-C-A c.2172C>A p.L724= Synonymous 18/24 - 1
7-101844749-C-G c.2172C>G p.L724= Synonymous 18/24 - 1
7-101844749-C-T c.2172C>T p.L724= Synonymous 18/24 - 2
7-101844750-G-A c.2173G>A p.D725N Missense 18/24 - 1
7-101844751-A-C c.2174A>C p.D725A Missense 18/24 - 1
7-101844752-C-T c.2175C>T p.D725= Synonymous 18/24 - 2
7-101844753-C-A c.2176C>A p.P726T Missense 18/24 - 1
7-101844753-C-G c.2176C>G p.P726A Missense 18/24 - 1
7-101844756-G-A c.2179G>A p.A727T Missense 18/24 - 1
7-101844757-C-T c.2180C>T p.A727V Missense 18/24 - 1
7-101844760-T-C c.2183T>C p.L728S Missense 18/24 - 1
7-101844763-A-G c.2186A>G p.K729R Missense 18/24 - 1
7-101844766-A-G c.2189A>G p.Q730R Missense 18/24 - 1
7-101844768-G-A c.2191G>A p.A731T Missense 18/24 - 1
7-101844770-AC-A c.2195del p.P732Hfs*33 Frameshift 18/24 - 2
7-101844774-AC-A c.2197del p.L733Cfs*32 Frameshift 18/24 - 1
7-101844776-G-T c.2199G>T p.L733= Synonymous 18/24 - 1
7-101844779-C-A c.2202C>A p.S734= Synonymous 18/24 - 1
7-101844779-C-G c.2202C>G p.S734= Synonymous 18/24 - 1
7-101844779-C-T c.2202C>T p.S734= Synonymous 18/24 - 5
7-101844782-G-C c.2205G>C p.Q735H Missense 18/24 - 1
7-101844785-T-A c.2208T>A p.S736R Missense 18/24 - 1
7-101844786-G-A c.2209G>A p.D737N Missense 18/24 - 1
7-101844787-A-G c.2210A>G p.D737G Missense 18/24 - 1
7-101844789-A-G c.2212A>G p.I738V Missense 18/24 - 1
7-101844792-A-G c.2215A>G p.T739A Missense 18/24 - 1
7-101844792-A-T c.2215A>T p.T739S Missense 18/24 - 1
7-101844802-C-T c.2225C>T p.T742I Missense 18/24 - 1
7-101844803-C-A c.2226C>A p.T742= Synonymous 18/24 - 1
7-101844803-C-G c.2226C>G p.T742= Synonymous 18/24 - 1
7-101844803-C-T c.2226C>T p.T742= Synonymous 18/24 - 1
7-101844805-CC-AA c.2228_2229delinsAA p.P743Q Missense 18/24 - 1
7-101844805-C-T c.2228C>T p.P743L Missense 18/24 - 1
7-101844801-A-AC c.2229dup p.K744Qfs*29 Frameshift 18/24 - 3
7-101844801-AC-A c.2229del p.K744Sfs*21 Frameshift 18/24 - 1
7-101844807-A-T c.2230A>T p.K744* Nonsense 18/24 - 1
7-101844809-G-GCCTGGTAAGTA c.2233_2234insCTGGTAAGTAC p.L745Pfs*24 Frameshift 18/24 - 3
7-101844810-C-A c.2233C>A p.L745I Missense 18/24 - 1
7-101844813-C-A c.2236C>A p.L746M Missense 18/24 - 1
7-101844813-C-T c.2236C>T p.L746= Synonymous 18/24 - 4
7-101844815-G-A c.2238G>A p.L746= Synonymous 18/24 - 4
7-101844815-G-C c.2238G>C p.L746= Synonymous 18/24 - 3
7-101844815-G-T c.2238G>T p.L746= Synonymous 18/24 - 4
7-101844818-C-A c.2241C>A p.S747= Synonymous 18/24 - 1
7-101844818-C-G c.2241C>G p.S747= Synonymous 18/24 - 1
7-101844818-C-T c.2241C>T p.S747= Synonymous 18/24 - 1
7-101844820-C-T c.2243C>T p.T748I Missense 18/24 - 1
7-101844824-G-A c.2247G>A p.S749= Synonymous 18/24 - 1
7-101844824-G-C c.2247G>C p.S749= Synonymous 18/24 - 1
7-101844824-G-T c.2247G>T p.S749= Synonymous 18/24 - 1
7-101844825-C-A c.2248C>A p.P750T Missense 18/24 - 1
7-101844825-C-T c.2248C>T p.P750S Missense 18/24 - 1
7-101844828-A-C c.2251A>C p.M751L Missense 18/24 - 1
7-101844828-A-G c.2251A>G p.M751V Missense 18/24 - 1
7-101844828-A-T c.2251A>T p.M751L Missense 18/24 - 1
7-101844831-C-T c.2254C>T p.P752S Missense 18/24 - 2
7-101844834-A-G c.2257A>G p.T753A Missense 18/24 - 2
7-101844834-A-AC c.2259dup p.V754Rfs*19 Frameshift 18/24 - 1
7-101844836-C-A c.2259C>A p.T753= Synonymous 18/24 - 2
7-101844836-C-G c.2259C>G p.T753= Synonymous 18/24 - 2
7-101844836-C-T c.2259C>T p.T753= Synonymous 18/24 - 3
7-101844838-T-TG c.2262dup p.S755Vfs*18 Frameshift 18/24 - 1
7-101844841-C-G c.2264C>G p.S755C Missense 18/24 - 2
7-101844850-C-T c.2273C>T p.P758L Missense 18/24 - 2
7-101844851-A-C c.2274A>C p.P758= Synonymous 18/24 - 2
7-101844851-A-G c.2274A>G p.P758= Synonymous 18/24 - 10
7-101844851-A-T c.2274A>T p.P758= Synonymous 18/24 - 2
7-101844852-C-T c.2275C>T p.P759S Missense 18/24 - 2
7-101844819-A-ACCTCGCCCATGCCCACCGTGTCCAGCTACCCACCTGTCCACCTGTATACCTTACCCCCCCCCCCCCCCCCCCCCCCCCACTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATCCGTTTGTTCGCGAGTTAATGCAACGATCGTCGAAATTCG c.2277_2278insGTCCACCTGTATACCTTACCCCCCCCCCCCCCCCCCCCCCCCCACTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATCCGTTTGTTCGCGAGTTAATGCAACGATCGTCGAAATTCGCCTCGCCCATGCCCACCGTGTCCAGCTACCCACCT p.L760Vfs*64 Frameshift 18/24 - 1
7-101844819-A-ACCTCGCCCATGCCCACCGTGTCCAGCTACCCACCTTACCACCCCCCCCCATTAATATACAAATTCACACACAACCAACCAAACCCGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATCCGTTTGTTCGCGAGTTAATGCAACGATCGTCGAAATTCG c.2277_2278insTACCACCCCCCCCCATTAATATACAAATTCACACACAACCAACCAAACCCGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATCCGTTTGTTCGCGAGTTAATGCAACGATCGTCGAAATTCGCCTCGCCCATGCCCACCGTGTCCAGCTACCCACCT p.P759_L760insYHPPPLIYKFTHNQPNPAPPPPPPPPPPFFFQAEDGIRDPFVRELMQRSSKFASPMPTVSSYPP InFrameInsertion 18/24 - 1
7-101844855-C-T c.2278C>T p.L760F Missense 18/24 - 1
7-101844857-C-A c.2280C>A p.L760= Synonymous 18/24 - 1
7-101844858-G-A c.2281G>A p.A761T Missense 18/24 - 1
7-101844858-G-T c.2281G>T p.A761S Missense 18/24 - 1
7-101844861-A-G c.2284A>G p.I762V Missense 18/24 - 1
7-101844872-G-T c.2295G>T p.K765N Missense 18/24 - 2
7-101844876-C-T c.2299C>T p.P767S Missense 18/24 - 1
7-101844877-C-T c.2300C>T p.P767L Missense 18/24 - 1
7-101844875-GC-G c.2301del p.S768Pfs*40 Frameshift 18/24 - 1
7-101844878-C-A c.2301C>A p.P767= Synonymous 18/24 - 1
7-101844878-C-G c.2301C>G p.P767= Synonymous 18/24 - 1
7-101844878-C-T c.2301C>T p.P767= Synonymous 18/24 - 1
7-101844879-T-C c.2302T>C p.S768P Missense 18/24 - 1
7-101844882-CG-C c.2305del p.A769Qfs*39 Frameshift 18/24 - 1
7-101844882-G-A c.2305G>A p.A769T Missense 18/24 - 4
7-101844884-A-G c.2307A>G p.A769= Synonymous 18/24 - 1
7-101844885-G-A c.2308G>A p.A770T Missense 18/24 - 1
7-101844885-G-C c.2308G>C p.A770P Missense 18/24 - 1
7-101844886-C-G c.2309C>G p.A770G Missense 18/24 - 1
7-101844888-C-T c.2311C>T p.P771S Missense 18/24 - 2
7-101844889-C-A c.2312C>A p.P771H Missense 18/24 - 1
7-101844889-C-T c.2312C>T p.P771L Missense 18/24 - 2
7-101844891-G-C c.2314G>C p.E772Q Missense 18/24 - 2
7-101844893-G-T c.2316G>T p.E772D Missense 18/24 - 1
7-101844895-C-T c.2318C>T p.A773V Missense 18/24 - 3
7-101844896-C-T c.2319C>T p.A773= Synonymous 18/24 - 2
7-101844897-G-A c.2320G>A p.G774S Missense 18/24 - 4
7-101844899-T-A c.2322T>A p.G774= Synonymous 18/24 - 1
7-101844899-T-C c.2322T>C p.G774= Synonymous 18/24 - 1
7-101844899-T-G c.2322T>G p.G774= Synonymous 18/24 - 1
7-101844906-G-A c.2329G>A p.A777T Missense 18/24 - 2
7-101844907-CT-AG c.2330_2331inv p.A777E Missense 18/24 - 1
7-101844909-C-T c.2332C>T p.L778= Synonymous 18/24 - 3
7-101844910-T-C c.2333T>C p.L778P Missense 18/24 - 1
7-101844912-C-T c.2335C>T p.P779S Missense 18/24 - 1
7-101844913-C-T c.2336C>T p.P779L Missense 18/24 - 4
7-101844914-G-GT c.2337_2338insT p.N780* Nonsense 18/24 - 1
7-101844917-C-T c.2340C>T p.N780= Synonymous 18/24 - 1
7-101844918-C-T c.2341C>T p.P781S Missense 18/24 - 1
7-101844919-C-A c.2342C>A p.P781H Missense 18/24 - 1
7-101844919-C-T c.2342C>T p.P781L Missense 18/24 - 1
7-101844916-A-AC c.2345dup p.A783Gfs*31 Frameshift 18/24 - 1
7-101844916-AC-A c.2345del p.P782Rfs*26 Frameshift 18/24 - 5
7-101844922-C-A c.2345C>A p.P782Q Missense 18/24 - 1
7-101844923-G-A c.2346G>A p.P782= Synonymous 18/24 - 1
7-101844923-G-C c.2346G>C p.P782= Synonymous 18/24 - 1
7-101844923-G-T c.2346G>T p.P782= Synonymous 18/24 - 1
7-101844924-G-A c.2347G>A p.A783T Missense 18/24 - 1
7-101844924-G-C c.2347G>C p.A783P Missense 18/24 - 1
7-101844925-C-T c.2348C>T p.A783V Missense 18/24 - 2
7-101844929-C-A c.2352C>A p.L784= Synonymous 18/24 - 1
7-101844929-C-G c.2352C>G p.L784= Synonymous 18/24 - 1
7-101844929-C-T c.2352C>T p.L784= Synonymous 18/24 - 1
7-101844931-A-G c.2354A>G p.K785R Missense 18/24 - 1
7-101844929-C-CA c.2357dup p.E787Gfs*27 Frameshift 18/24 - 1
7-101844934-A-C c.2357A>C p.K786T Missense 18/24 - 1
7-101844939-G-A c.2362G>A p.A788T Missense 18/24 - 2
7-101844939-GC-G c.2365del p.Q789Rfs*19 Frameshift 18/24 - 2
7-101844944-G-A c.2367G>A p.Q789= Synonymous 18/24 - 1
7-101844946-A-C c.2369A>C p.D790A Missense 18/24 - 1
7-101844947-C-T c.2370C>T p.D790= Synonymous 18/24 - 4
7-101844948-G-A c.2371G>A p.A791T Missense 18/24 - 3
7-101844948-G-C c.2371G>C p.A791P Missense 18/24 - 1
7-101844948-G-T c.2371G>T p.A791S Missense 18/24 - 1
7-101844951-C-T c.2374C>T p.P792S Missense 18/24 - 1
7-101844952-C-T c.2375C>T p.P792L Missense 18/24 - 1
7-101844948-GC-G c.2376del p.L794Wfs*14 Frameshift 18/24 - 2
7-101844948-G-GC c.2376dup p.G793Rfs*21 Frameshift 18/24 - 1
7-101844953-C-A c.2376C>A p.P792= Synonymous 18/24 - 2
7-101844953-C-G c.2376C>G p.P792= Synonymous 18/24 - 3
7-101844953-C-T c.2376C>T p.P792= Synonymous 18/24 - 4
7-101844954-G-A c.2377G>A p.G793R Missense 18/24 - 3
7-101844954-G-C c.2377G>C p.G793R Missense 18/24 - 3
7-101844953-CG-C c.2379del p.L794Wfs*14 Frameshift 18/24 - 2
7-101844958-T-A c.2381T>A p.L794Q Missense 18/24 - 1
7-101844960-G-T c.2383G>T p.D795Y Missense 18/24 - 1
7-101844961-A-C c.2384A>C p.D795A Missense 18/24 - 1
7-101844961-A-G c.2384A>G p.D795G Missense 18/24 - 1
7-101844962-C-A c.2385C>A p.D795E Missense 18/24 - 1
7-101844962-C-T c.2385C>T p.D795= Synonymous 18/24 - 1
7-101844964-C-A c.2387C>A p.P796H Missense 18/24 - 2
7-101844964-C-G c.2387C>G p.P796R Missense 18/24 - 4
7-101844965-C-A c.2388C>A p.P796= Synonymous 18/24 - 1
7-101844965-C-G c.2388C>G p.P796= Synonymous 18/24 - 1
7-101844965-C-T c.2388C>T p.P796= Synonymous 18/24 - 3
7-101844970-G-T c.2393G>T p.G798V Missense 18/24 - 1
7-101844974-A-G c.2397A>G p.A799= Synonymous 18/24 - 1
7-101844975-AG-A c.2398del p.A800Pfs*8 Frameshift 18/24 - 2
7-101844978-G-A c.2401G>A p.D801N Missense 18/24 - 3
7-101844978-G-C c.2401G>C p.D801H Missense 18/24 - 1
7-101844980-T-C c.2403T>C p.D801= Synonymous 18/24 - 1
7-101844984-G-T c.2407G>T p.A803S Missense 18/24 - 1
7-101844985-CA-AC c.2408_2409delinsAC p.A803D Missense 18/24 - 1
7-101844985-C-T c.2408C>T p.A803V Missense 18/24 - 1
7-101844987-C-T c.2410C>T p.Q804* Nonsense 18/24 - 1
7-101844988-A-G c.2411A>G p.Q804R Missense 18/24 - 1
7-101844991-G-A c.2414G>A p.G805E Missense 18/24 - 1
7-101844995-C-T c.2418C>T p.V806= Synonymous 18/24 - 2
7-101844996-C-G c.2419C>G p.L807V Missense 18/24 - 1
7-101844997-T-C c.2420T>C p.L807P Missense 18/24 - 1
7-101844999-AGA-CAT c.2422_2424delinsCAT p.R808H Missense 18/24 - 1
7-101845002-C-T c.2425C>T p.Q809* Nonsense 18/24 - 1
7-101845005-G-A c.2428G>A p.V810M Missense 18/24 - 1
7-101845006-T-C c.2429T>C p.V810A Missense 18/24 - 2
7-101845010-A-C c.2433A>C p.K811N Missense 18/24 - 1
7-101845010-A-T c.2433A>T p.K811N Missense 18/24 - 1
7-101845014-G-A c.2437G>A p.E813K Missense 18/24 - 1
7-101845014-G-C c.2437G>C p.E813Q Missense 18/24 - 3
7-101845015-A-C c.2438A>C p.E813A Missense 18/24 - 1
7-101845017-G-C c.2440G>C p.V814L Missense 18/24 - 1
7-101845017-G-T c.2440G>T p.V814L Missense 18/24 - 1
7-101845022-C-T c.2445C>T p.G815= Synonymous 18/24 - 2
7-101845021-GC-G c.2446del p.R816Afs*80 Frameshift 18/24 - 1
7-101845023-C-A c.2446C>A p.R816S Missense 18/24 - 1
7-101845023-C-T c.2446C>T p.R816C Missense 18/24 - 1
7-101845024-G-A c.2447G>A p.R816H Missense 18/24 - 5
7-101845026-A-T c.2449A>T p.S817C Missense 18/24 - 1
7-101845029-G-T c.2452G>T p.G818C Missense 18/24 - 1
7-101845035-CTG-C c.2458_2459del p.W820Efs*66 Frameshift 18/24 - 1
7-101845035-T-C c.2458T>C p.W820R Missense 18/24 - 1
7-101845037-G-C c.2460G>C p.W820C Missense 18/24 - 1
7-101845037-G-T c.2460G>T p.W820C Missense 18/24 - 1
7-101845040-G-A c.2463G>A p.K821= Synonymous 18/24 - 3
7-101845045-A-G c.2468A>G p.H823R Missense 18/24 - 1
7-101845049-G-C c.2472G>C p.W824C Missense 18/24 - 1
7-101845049-G-T c.2472G>T p.W824C Missense 18/24 - 2
7-101845050-TG-AC c.2473_2474delinsAC p.W825T Missense 18/24 - 1
7-101845052-G-A c.2475G>A p.W825* Nonsense 18/24 - 1
7-101845053-AG-TT c.2476_2477delinsTT p.S826F Missense 18/24 - 1
7-101845055-C-T c.2478C>T p.S826= Synonymous 18/24 - 4
7-101845057-C-G c.2480C>G p.A827G Missense 18/24 - 1
7-101845057-C-T c.2480C>T p.A827V Missense 18/24 - 4
7-101845059-G-A c.2482G>A p.V828M Missense 18/24 - 1
7-101845059-GTG-ATC c.2482_2484delinsATC p.V828I Missense 18/24 - 1
7-101845067-G-A c.2490G>A p.P830= Synonymous 18/24 - 2
7-101845067-G-C c.2490G>C p.P830= Synonymous 18/24 - 1
7-101845067-G-T c.2490G>T p.P830= Synonymous 18/24 - 1
7-101845068-G-A c.2491G>A p.E831K Missense 18/24 - 1
7-101845069-A-G c.2492A>G p.E831G Missense 18/24 - 1
7-101845071-AGA-TTT c.2494_2496delinsTTT p.R832F Missense 18/24 - 1
7-101845072-G-A c.2495G>A p.R832K Missense 18/24 - 1
7-101845073-A-C c.2496A>C p.R832S Missense 18/24 - 1
7-101845073-A-T c.2496A>T p.R832S Missense 18/24 - 1
7-101845074-AGA-TGG c.2497_2499delinsTGG p.R833W Missense 18/24 - 1
7-101845080-G-A c.2503G>A p.A835T Missense 18/24 - 1
7-101845082-C-A c.2505C>A p.A835= Synonymous 18/24 - 1
7-101845082-C-G c.2505C>G p.A835= Synonymous 18/24 - 1
7-101845082-C-T c.2505C>T p.A835= Synonymous 18/24 - 2
7-101845083-G-A c.2506G>A p.A836T Missense 18/24 - 2
7-101845083-G-T c.2506G>T p.A836S Missense 18/24 - 1
7-101845084-C-T c.2507C>T p.A836V Missense 18/24 - 1
7-101845087-C-T c.2510C>T p.S837F Missense 18/24 - 4
7-101845088-C-A c.2511C>A p.S837= Synonymous 18/24 - 3
7-101845088-C-G c.2511C>G p.S837= Synonymous 18/24 - 3
7-101845088-C-T c.2511C>T p.S837= Synonymous 18/24 - 4
7-101845089-T-G c.2512T>G p.S838A Missense 18/24 - 1
7-101845090-C-T c.2513C>T p.S838F Missense 18/24 - 6
7-101845091-C-A c.2514C>A p.S838= Synonymous 18/24 - 1
7-101845091-C-G c.2514C>G p.S838= Synonymous 18/24 - 1
7-101845091-C-T c.2514C>T p.S838= Synonymous 18/24 - 2
7-101845092-G-A c.2515G>A p.E839K Missense 18/24 - 1
7-101845098-G-T c.2521G>T p.A841S Missense 18/24 - 1
7-101845099-C-A c.2522C>A p.A841D Missense 18/24 - 1
7-101845099-C-G c.2522C>G p.A841G Missense 18/24 - 1
7-101845102-A-C c.2525A>C p.K842T Missense 18/24 - 1
7-101845106-C-T c.2529C>T p.A843= Synonymous 18/24 - 1
7-101845107-G-A c.2530G>A p.E844K Missense 18/24 - 2
7-101845111-A-C c.2534A>C p.E845A Missense 18/24 - 1
7-101845113-A-C c.2536A>C p.T846P Missense 18/24 - 1
7-101845114-C-G c.2537C>G p.T846R Missense 18/24 - 1
7-101845114-C-T c.2537C>T p.T846M Missense 18/24 - 2
7-101845115-G-A c.2538G>A p.T846= Synonymous 18/24 - 2
7-101845116-G-T c.2539G>T p.G847C Missense 18/24 - 1
7-101845118-C-A c.2541C>A p.G847= Synonymous 18/24 - 1
7-101845118-C-G c.2541C>G p.G847= Synonymous 18/24 - 1
7-101845118-C-T c.2541C>T p.G847= Synonymous 18/24 - 2
7-101845119-G-A c.2542G>A p.G848S Missense 18/24 - 6
7-101845120-G-A c.2543G>A p.G848D Missense 18/24 - 1
7-101845121-C-A c.2544C>A p.G848= Synonymous 18/24 - 1
7-101845121-C-T c.2544C>T p.G848= Synonymous 18/24 - 2
7-101845122-G-A c.2545G>A p.G849R Missense 18/24 - 3
7-101845122-G-C c.2545G>C p.G849R Missense 18/24 - 1
7-101845123-G-A c.2546G>A p.G849E Missense 18/24 - 1
7-101845126-A-T c.2549A>T p.K850I Missense 18/24 - 1
7-101845127-A-T c.2550A>T p.K850N Missense 18/24 - 1
7-101845132-A-T c.2555A>T p.K852M Missense 18/24 - 1
7-101845133-G-GGGTAGCGGT c.2558_2559insTAGCGGTGG p.S857_G859dup InFrameInsertion 18/24 - 1
7-101845135-G-A c.2558G>A p.G853D Missense 18/24 - 1
7-101845135-G-T c.2558G>T p.G853V Missense 18/24 - 1
7-101845137-A-T c.2560A>T p.S854C Missense 18/24 - 2
7-101845137-A-C c.2560A>C p.S854R Missense 18/24 - 1
7-101845139-C-A c.2562C>A p.S854R Missense 18/24 - 1
7-101845139-C-G c.2562C>G p.S854R Missense 18/24 - 1
7-101845140-G-A c.2563G>A p.G855S Missense 18/24 - 3
7-101845141-G-A c.2564G>A p.G855D Missense 18/24 - 1
7-101845133-G-GGGCAGCGGT c.2565_2573dup p.S857_G859dup InFrameInsertion 18/24 - 2
7-101845144-G-A c.2567G>A p.G856D Missense 18/24 - 1
7-101845144-GC-AG c.2567_2568delinsAG p.G856E Missense 18/24 - 1
7-101845144-G-T c.2567G>T p.G856V Missense 18/24 - 2
7-101845146-A-C c.2569A>C p.S857R Missense 18/24 - 1
7-101845148-C-T c.2571C>T p.S857= Synonymous 18/24 - 1
7-101845149-G-T c.2572G>T p.G858* Nonsense 18/24 - 1
7-101845150-G-A c.2573G>A p.G858E Missense 18/24 - 1
7-101845151-A-C c.2574A>C p.G858= Synonymous 18/24 - 2
7-101845151-A-G c.2574A>G p.G858= Synonymous 18/24 - 2
7-101845151-A-T c.2574A>T p.G858= Synonymous 18/24 - 2
7-101845153-G-C c.2576G>C p.G859A Missense 18/24 - 1
7-101845153-G-T c.2576G>T p.G859V Missense 18/24 - 1
7-101845155-G-C c.2578G>C p.G860R Missense 18/24 - 2
7-101845156-G-T c.2579G>T p.G860V Missense 18/24 - 1
7-101845158-A-T c.2581A>T p.S861C Missense 18/24 - 1
7-101845161-C-T c.2584C>T p.Q862* Nonsense 18/24 - 2
7-101845162-A-T c.2585A>T p.Q862L Missense 18/24 - 3
7-101845165-C-T c.2588C>T p.P863L Missense 18/24 - 1
7-101845165-C-CTGGCAGCGG c.2589_2590insGGCAGCGGT p.P863_R864insGSG InFrameInsertion 18/24 - 2
7-101845168-G-A c.2591G>A p.R864Q Missense 18/24 - 1
7-101845168-G-T c.2591G>T p.R864L Missense 18/24 - 1
7-101845170-G-A c.2593G>A p.A865T Missense 18/24 - 1
7-101845173-G-A c.2596G>A p.E866K Missense 18/24 - 1
7-101845176-C-T c.2599C>T p.R867C Missense 18/24 - 2
7-101845177-G-A c.2600G>A p.R867H Missense 18/24 - 2
7-101845179-A-T c.2602A>T p.S868C Missense 18/24 - 1
7-101845182-C-T c.2605C>T p.Q869* Nonsense 18/24 - 2
7-101845183-A-T c.2606A>T p.Q869L Missense 18/24 - 1
7-101845187-C-A c.2610C>A p.L870= Synonymous 18/24 - 1
7-101845187-C-G c.2610C>G p.L870= Synonymous 18/24 - 1
7-101845187-C-T c.2610C>T p.L870= Synonymous 18/24 - 1
7-101845189-A-T c.2612A>T p.Q871L Missense 18/24 - 1
7-101845192-G-C c.2615G>C p.G872A Missense 18/24 - 1
7-101845194-C-T c.2617C>T p.P873S Missense 18/24 - 2
7-101845199-G-A c.2622G>A p.S874= Synonymous 18/24 - 2
7-101845199-G-C c.2622G>C p.S874= Synonymous 18/24 - 1
7-101845199-G-T c.2622G>T p.S874= Synonymous 18/24 - 1
7-101845201-C-T c.2624C>T p.S875L Missense 18/24 - 9
7-101845204-C-T c.2627C>T p.S876L Missense 18/24 - 1
7-101845204-C-CA c.2628dup p.E877Rfs*10 Frameshift 18/24 - 1
7-101845206-G-A c.2629G>A p.E877K Missense 18/24 - 1
7-101845206-G-T c.2629G>T p.E877* Nonsense 18/24 - 2
7-101845204-CAG-C c.2630_2631del p.E877Vfs*9 Frameshift 18/24 - 1
7-101845207-A-T c.2630A>T p.E877V Missense 18/24 - 1
7-101845210-A-G c.2633A>G p.Y878C Missense 18/24 - 1
7-101845211-C-A c.2634C>A p.Y878* Nonsense 18/24 - 1
7-101845212-T-C c.2635T>C p.W879R Missense 18/24 - 1
7-101845216-A-T c.2639A>T p.K880M Missense 18/24 - 1
7-101845221-T-C c.2644T>C p.W882R Missense 18/24 - 1
7-101845222-G-T c.2645G>T p.W882L Missense 18/24 - 2
7-101845223-G-T c.2646G>T p.W882C Missense 18/24 - 1
7-101845224-C-A c.2647C>A p.P883T Missense 18/24 - 1
7-101845227-A-T c.2650A>T p.S884C Missense 18/24 - 1
7-101845236-TC-CT c.2659_2660delinsCT p.S887L Missense 18/24 - 1
7-101845237-C-T c.2660C>T p.S887F Missense 18/24 - 3
7-101845238-C-A c.2661C>A p.S887= Synonymous 18/24 - 1
7-101845238-C-G c.2661C>G p.S887= Synonymous 18/24 - 1
7-101845238-C-T c.2661C>T p.S887= Synonymous 18/24 - 1
7-101845239-C-G c.2662C>G p.P888A Missense 18/24 - 2
7-101845243-A-G c.2666A>G p.Y889C Missense 18/24 - 1
7-101845244-C-A c.2667C>A p.Y889* Nonsense 18/24 - 1
7-101845244-C-G c.2667C>G p.Y889* Nonsense 18/24 - 1
7-101845248-C-T c.2671C>T p.Q891* Nonsense 18/24 - 2
7-101845251-A-C c.2674A>C p.S892R Missense 18/24 - 1
7-101845253-C-T c.2676C>T p.S892= Synonymous 18/24 - 1
7-101845257-G-C c.2680G>C p.E894Q Missense 18/24 - 1
7-101845259-G-T c.2682G>T p.E894D Missense 18/24 - 1
7-101845262-G-A c.2685G>A p.L895= Synonymous 18/24 - 1
7-101845263-AG-CT c.2686_2687inv p.S896L Missense 18/24 - 1
7-101845269-A-C c.2692A>C p.T898P Missense 18/24 - 1
7-101845270-C-A c.2693C>A p.T898N Missense 18/24 - 1
7-101845271-C-A c.2694C>A p.T898= Synonymous 18/24 - 2
7-101845271-C-G c.2694C>G p.T898= Synonymous 18/24 - 2
7-101845271-C-T c.2694C>T p.T898= Synonymous 18/24 - 6
7-101845272-G-A c.2695G>A p.G899R Missense 18/24 - 2
7-101845272-G-C c.2695G>C p.G899R Missense 18/24 - 1
7-101845273-G-A c.2696G>A p.G899E Missense 18/24 - 1
7-101845275-G-T c.2698G>T p.A900S Missense 18/24 - 1
7-101845276-C-T c.2699C>T p.A900V Missense 18/24 - 2
7-101845278-AG-TT c.2701_2702delinsTT p.S901F Missense 18/24 - 1
7-101845279-G-A c.2702G>A p.S901N Missense 18/24 - 2
7-101845281-CGC-AAG c.2704_2706delinsAAG p.R902K Missense 18/24 - 1
7-101845281-C-T c.2704C>T p.R902C Missense 18/24 - 4
7-101845282-CG-C c.2705del p.R902Pfs*29 Frameshift 18/24 - 1
7-101845282-G-A c.2705G>A p.R902H Missense 18/24 - 2
7-101845282-G-T c.2705G>T p.R902L Missense 18/24 - 2
7-101845284-A-G c.2707A>G p.S903G Missense 18/24 - 1
7-101845287-G-A c.2710G>A p.E904K Missense 18/24 - 1
7-101845288-A-G c.2711A>G p.E904G Missense 18/24 - 1
7-101845289-G-T c.2712G>T p.E904D Missense 18/24 - 1
7-101845290-A-C c.2713A>C p.T905P Missense 18/24 - 1
7-101845292-A-C c.2715A>C p.T905= Synonymous 18/24 - 1
7-101845292-A-G c.2715A>G p.T905= Synonymous 18/24 - 1
7-101845292-A-T c.2715A>T p.T905= Synonymous 18/24 - 1
7-101845296-C-T c.2719C>T p.Q907* Nonsense 18/24 - 1
7-101845299-A-C c.2722A>C p.N908H Missense 18/24 - 1
7-101845301-C-CT c.2724_2725insT p.S909* Nonsense 18/24 - 1
7-101845302-A-C c.2725A>C p.S909R Missense 18/24 - 2
7-101845303-G-A c.2726G>A p.S909N Missense 18/24 - 1
7-101845304-C-A c.2727C>A p.S909R Missense 18/24 - 1
7-101845304-C-G c.2727C>G p.S909R Missense 18/24 - 1
7-101845306-C-T c.2729C>T p.P910L Missense 18/24 - 2
7-101845303-G-GC c.2731dup p.L911Pfs*43 Frameshift 18/24 - 1
7-101845308-C-A c.2731C>A p.L911M Missense 18/24 - 1
7-101845309-T-A c.2732T>A p.L911Q Missense 18/24 - 1
7-101845309-T-G c.2732T>G p.L911R Missense 18/24 - 1
7-101845311-C-T c.2734C>T p.P912S Missense 18/24 - 1
7-101845313-A-C c.2736A>C p.P912= Synonymous 18/24 - 1
7-101845313-A-G c.2736A>G p.P912= Synonymous 18/24 - 1
7-101845313-A-T c.2736A>T p.P912= Synonymous 18/24 - 1
7-101845314-T-A c.2737T>A p.S913T Missense 18/24 - 1
7-101845314-T-G c.2737T>G p.S913A Missense 18/24 - 1
7-101845315-C-A c.2738C>A p.S913Y Missense 18/24 - 1
7-101845315-C-T c.2738C>T p.S913F Missense 18/24 - 1
7-101845317-T-A c.2740T>A p.S914T Missense 18/24 - 1
7-101845317-T-G c.2740T>G p.S914A Missense 18/24 - 1
7-101845318-C-A c.2741C>A p.S914Y Missense 18/24 - 1
7-101845318-C-G c.2741C>G p.S914C Missense 18/24 - 1
7-101845319-C-A c.2742C>A p.S914= Synonymous 18/24 - 1
7-101845319-C-G c.2742C>G p.S914= Synonymous 18/24 - 1
7-101845319-C-T c.2742C>T p.S914= Synonymous 18/24 - 5
7-101845321-C-T c.2744C>T p.P915L Missense 18/24 - 5
7-101845322-G-A c.2745G>A p.P915= Synonymous 18/24 - 3
7-101845322-G-C c.2745G>C p.P915= Synonymous 18/24 - 2
7-101845322-G-T c.2745G>T p.P915= Synonymous 18/24 - 1
7-101845323-A-C c.2746A>C p.I916L Missense 18/24 - 2
7-101845323-A-G c.2746A>G p.I916V Missense 18/24 - 2
7-101845324-T-A c.2747T>A p.I916N Missense 18/24 - 1
7-101845324-T-G c.2747T>G p.I916S Missense 18/24 - 1
7-101845325-C-A c.2748C>A p.I916= Synonymous 18/24 - 1
7-101845325-C-G c.2748C>G p.I916M Missense 18/24 - 1
7-101845325-C-T c.2748C>T p.I916= Synonymous 18/24 - 2
7-101845326-G-A c.2749G>A p.V917M Missense 18/24 - 3
7-101845326-G-C c.2749G>C p.V917L Missense 18/24 - 1
7-101845326-G-T c.2749G>T p.V917L Missense 18/24 - 1
7-101845327-T-A c.2750T>A p.V917E Missense 18/24 - 1
7-101845327-T-G c.2750T>G p.V917G Missense 18/24 - 1
7-101845329-C-G c.2752C>G p.P918A Missense 18/24 - 1
7-101845329-C-T c.2752C>T p.P918S Missense 18/24 - 2
7-101845330-C-T c.2753C>T p.P918L Missense 18/24 - 2
7-101845332-A-C c.2755A>C p.M919L Missense 18/24 - 1
7-101845332-A-G c.2755A>G p.M919V Missense 18/24 - 2
7-101845332-A-T c.2755A>T p.M919L Missense 18/24 - 3
7-101845333-T-A c.2756T>A p.M919K Missense 18/24 - 1
7-101845333-T-G c.2756T>G p.M919R Missense 18/24 - 1
7-101845335-T-A c.2758T>A p.S920T Missense 18/24 - 1
7-101845335-TC-AA c.2758_2759delinsAA p.S920N Missense 18/24 - 1
7-101845335-TC-CG c.2758_2759delinsCG p.S920R Missense 18/24 - 1
7-101845335-T-G c.2758T>G p.S920A Missense 18/24 - 1
7-101845336-C-A c.2759C>A p.S920Y Missense 18/24 - 1
7-101845336-C-G c.2759C>G p.S920C Missense 18/24 - 1
7-101845335-TC-T c.2760del p.K921Sfs*10 Frameshift 18/24 - 2
7-101845337-C-A c.2760C>A p.S920= Synonymous 18/24 - 2
7-101845337-C-G c.2760C>G p.S920= Synonymous 18/24 - 2
7-101845337-C-T c.2760C>T p.S920= Synonymous 18/24 - 2
7-101845338-A-C c.2761A>C p.K921Q Missense 18/24 - 1
7-101845338-A-G c.2761A>G p.K921E Missense 18/24 - 1
7-101845339-A-C c.2762A>C p.K921T Missense 18/24 - 1
7-101845339-A-G c.2762A>G p.K921R Missense 18/24 - 1
7-101845340-G-A c.2763G>A p.K921= Synonymous 18/24 - 2
7-101845342-C-A c.2765C>A p.P922H Missense 18/24 - 1
7-101845342-C-T c.2765C>T p.P922L Missense 18/24 - 2
7-101845340-GC-G c.2766del p.T923Pfs*8 Frameshift 18/24 - 1
7-101845340-G-GC c.2766dup p.T923Hfs*31 Frameshift 18/24 - 1
7-101845343-C-A c.2766C>A p.P922= Synonymous 18/24 - 1
7-101845343-C-G c.2766C>G p.P922= Synonymous 18/24 - 1
7-101845343-C-T c.2766C>T p.P922= Synonymous 18/24 - 1
7-101845344-A-C c.2767A>C p.T923P Missense 18/24 - 2
7-101845344-A-G c.2767A>G p.T923A Missense 18/24 - 1
7-101845344-A-T c.2767A>T p.T923S Missense 18/24 - 1
7-101845345-C-A c.2768C>A p.T923N Missense 18/24 - 1
7-101845345-C-G c.2768C>G p.T923S Missense 18/24 - 3
7-101845347-A-C c.2770A>C p.K924Q Missense 18/24 - 1
7-101845347-A-G c.2770A>G p.K924E Missense 18/24 - 1
7-101845348-A-C c.2771A>C p.K924T Missense 18/24 - 1
7-101845349-G-C c.2772G>C p.K924N Missense 18/24 - 2
7-101845349-G-T c.2772G>T p.K924N Missense 18/24 - 1
7-101845350-C-T c.2773C>T p.P925S Missense 18/24 - 1
7-101845351-C-T c.2774C>T p.P925L Missense 18/24 - 4
7-101845352-C-T c.2775C>T p.P925= Synonymous 18/24 - 1
7-101845353-T-A c.2776T>A p.S926T Missense 18/24 - 1
7-101845353-T-C c.2776T>C p.S926P Missense 18/24 - 1
7-101845353-T-G c.2776T>G p.S926A Missense 18/24 - 1
7-101845354-C-T c.2777C>T p.S926L Missense 18/24 - 5
7-101845356-G-A c.2779G>A p.V927I Missense 18/24 - 1
7-101845357-T-C c.2780T>C p.V927A Missense 18/24 - 1
7-101845357-T-G c.2780T>G p.V927G Missense 18/24 - 1
7-101845358-C-T c.2781C>T p.V927= Synonymous 18/24 - 1
7-101845362-C-T c.2785C>T p.P929S Missense 18/24 - 2
7-101845357-TC-T c.2786del p.P929Rfs*2 Frameshift 18/24 - 1
7-101845357-T-TC c.2786dup p.L930Afs*24 Frameshift 18/24 - 1
7-101845363-C-G c.2786C>G p.P929R Missense 18/24 - 1
7-101845363-C-T c.2786C>T p.P929L Missense 18/24 - 5
7-101845363-C-CG c.2787dup p.L930Afs*24 Frameshift 18/24 - 1
7-101845365-C-A c.2788C>A p.L930M Missense 18/24 - 1
7-101845366-T-A c.2789T>A p.L930Q Missense 18/24 - 1
7-101845366-T-C c.2789T>C p.L930P Missense 18/24 - 1
7-101845366-T-G c.2789T>G p.L930R Missense 18/24 - 1
7-101845368-A-C c.2791A>C p.T931P Missense 18/24 - 2
7-101845374-CG-C c.2797del p.E933Sfs*59 Frameshift 18/24 - 2
7-101845374-G-T c.2797G>T p.E933* Nonsense 18/24 - 1
7-101845372-CCGAGCAGTA-C c.2800_2808del p.Q934_E936del InFrameDeletion 18/24 - 1
7-101845379-G-A c.2802G>A p.Q934= Synonymous 18/24 - 1
7-101845379-G-C c.2802G>C p.Q934H Missense 18/24 - 1
7-101845382-C-A c.2805C>A p.Y935* Nonsense 18/24 - 1
7-101845382-C-G c.2805C>G p.Y935* Nonsense 18/24 - 1
7-101845383-G-A c.2806G>A p.E936K Missense 18/24 - 3
7-101845390-A-AC c.2814dup p.M939Hfs*15 Frameshift 18/24 - 1
7-101845395-T-A c.2818T>A p.Y940N Missense 18/24 - 1
7-101845396-TA-T c.2819del p.Y940Sfs*52 Frameshift 18/24 - 1
7-101845405-TG-T c.2830del p.D944Tfs*48 Frameshift 18/24 - 1
7-101845410-A-T c.2833A>T p.T945S Missense 18/24 - 2
7-101845411-C-G c.2834C>G p.T945S Missense 18/24 - 1
7-101845411-C-T c.2834C>T p.T945I Missense 18/24 - 1
7-101845416-G-A c.2839G>A p.E947K Missense 18/24 - 2
7-101845419-C-T c.2842C>T p.L948F Missense 18/24 - 1
7-101845424-C-T c.2847C>T p.T949= Synonymous 18/24 - 1
7-101845425-C-T c.2848C>T p.R950W Missense 18/24 - 1
7-101845426-G-A c.2849G>A p.R950Q Missense 18/24 - 2
7-101845426-G-C c.2849G>C p.R950P Missense 18/24 - 1
7-101845437-G-A c.2860G>A p.E954K Missense 18/24 - 5
7-101845438-A-G c.2861A>G p.E954G Missense 18/24 - 4
7-101845441-A-G c.2864A>G p.K955R Missense 18/24 - 1
7-101845441-A-T c.2864A>T p.K955M Missense 18/24 - 1
7-101845443-C-T c.2866C>T p.L956= Synonymous 18/24 - 1
7-101845445-G-A c.2868G>A p.L956= Synonymous 18/24 - 1
7-101845445-G-C c.2868G>C p.L956= Synonymous 18/24 - 1
7-101845445-G-T c.2868G>T p.L956= Synonymous 18/24 - 1
7-101845444-T-TG c.2869dup p.A957Gfs*102 Frameshift 18/24 - 1
7-101845447-C-T c.2870C>T p.A957V Missense 18/24 - 2
7-101845454-C-T c.2877C>T p.N959= Synonymous 18/24 - 1
7-101845463-C-T c.2886C>T p.C962= Synonymous 18/24 - 1
7-101845468-G-C c.2891G>C p.R964T Missense 18/24 - 1
7-101845470-A-G c.2893A>G p.I965V Missense 18/24 - 2
7-101845472-C-A c.2895C>A p.I965= Synonymous 18/24 - 1
7-101845472-C-T c.2895C>T p.I965= Synonymous 18/24 - 1
7-101845473-T-C c.2896T>C p.F966L Missense 18/24 - 1
7-101845475-C-A c.2898C>A p.F966L Missense 18/24 - 1
7-101845475-C-G c.2898C>G p.F966L Missense 18/24 - 1
7-101845475-C-T c.2898C>T p.F966= Synonymous 18/24 - 2
7-101845476-G-A c.2899G>A p.G967R Missense 18/24 - 6
7-101845476-G-C c.2899G>C p.G967R Missense 18/24 - 1
7-101845479-G-C c.2902G>C p.E968Q Missense 18/24 - 1
7-101845482-A-G c.2905A>G p.K969E Missense 18/24 - 2
7-101845489-G-A c.2907+5G>A - IntronicSNV - 18/23 2
7-101845494-C-A c.2907+10C>A - IntronicSNV - 18/23 2
7-101847671-G-A c.2908G>A p.V970M Missense 19/24 - 1
7-101847674-C-T c.2911C>T p.L971= Synonymous 19/24 - 1
7-101847677-G-T c.2914G>T p.G972C Missense 19/24 - 1
7-101847684-C-T c.2921C>T p.S974F Missense 19/24 - 1
7-101847691-GC-G c.2928del p.S977Afs*15 Frameshift 19/24 - 1
7-101847693-G-A c.2930G>A p.S977N Missense 19/24 - 1
7-101847693-G-C c.2930G>C p.S977T Missense 19/24 - 1
7-101847694-C-T c.2931C>T p.S977= Synonymous 19/24 - 3
7-101847695-G-A c.2932G>A p.V978I Missense 19/24 - 3
7-101847700-C-T c.2937C>T p.S979= Synonymous 19/24 - 1
7-101847701-G-A c.2938G>A p.D980N Missense 19/24 - 1
7-101847703-C-T c.2940C>T p.D980= Synonymous 19/24 - 1
7-101847704-A-G c.2941A>G p.M981V Missense 19/24 - 1
7-101847705-T-A c.2942T>A p.M981K Missense 19/24 - 1
7-101847707-C-T c.2944C>T p.L982= Synonymous 19/24 - 2
7-101847713-C-T c.2950C>T p.R984* Nonsense 19/24 - 2
7-101847714-GA-AT c.2951_2952delinsAT p.R984H Missense 19/24 - 1
7-101847716-C-T c.2953C>T p.P985S Missense 19/24 - 1
7-101847718-G-A c.2955G>A p.P985= Synonymous 19/24 - 1
7-101847723-C-T c.2960C>T p.P987L Missense 19/24 - 1
7-101847725-T-C c.2962T>C p.W988R Missense 19/24 - 1
7-101847730-C-G c.2967C>G p.S989R Missense 19/24 - 3
7-101847730-C-T c.2967C>T p.S989= Synonymous 19/24 - 1
7-101847735-T-A c.2972T>A p.L991Q Missense 19/24 - 1
7-101847735-T-C c.2972T>C p.L991P Missense 19/24 - 1
7-101847737-A-G c.2974A>G p.T992A Missense 19/24 - 1
7-101847737-A-T c.2974A>T p.T992S Missense 19/24 - 4
7-101847738-C-A c.2975C>A p.T992K Missense 19/24 - 1
7-101847738-C-T c.2975C>T p.T992M Missense 19/24 - 8
7-101847740-C-T c.2977C>T p.Q993* Nonsense 19/24 - 1
7-101847741-A-C c.2978A>C p.Q993P Missense 19/24 - 1
7-101847741-A-T c.2978A>T p.Q993L Missense 19/24 - 1
7-101847742-G-C c.2979G>C p.Q993H Missense 19/24 - 1
7-101847742-G-GT c.2979_2980insT p.K994* Nonsense 19/24 - 1
7-101847749-C-T c.2986C>T p.R996* Nonsense 19/24 - 5
7-101847750-G-A c.2987G>A p.R996Q Missense 19/24 - 2
7-101847754-A-C c.2991A>C p.E997D Missense 19/24 - 1
7-101847756-C-T c.2993C>T p.P998L Missense 19/24 - 1
7-101847763-C-T c.3000C>T p.I1000= Synonymous 19/24 - 3
7-101847764-C-G c.3001C>G p.R1001G Missense 19/24 - 1
7-101847764-C-T c.3001C>T p.R1001W Missense 19/24 - 1
7-101847765-G-A c.3002G>A p.R1001Q Missense 19/24 - 1
7-101847765-G-T c.3002G>T p.R1001L Missense 19/24 - 1
7-101847769-G-A c.3006G>A p.M1002I Missense 19/24 - 1
7-101847769-G-C c.3006G>C p.M1002I Missense 19/24 - 1
7-101847769-G-T c.3006G>T p.M1002I Missense 19/24 - 1
7-101847770-CA-GC c.3007_3008delinsGC p.Q1003A Missense 19/24 - 1
7-101847770-CAG-TGT c.3007_3009delinsTGT p.Q1003C Missense 19/24 - 1
7-101847770-C-G c.3007C>G p.Q1003E Missense 19/24 - 1
7-101847773-C-T c.3010C>T p.L1004F Missense 19/24 - 1
7-101847774-T-A c.3011T>A p.L1004H Missense 19/24 - 1
7-101847774-T-C c.3011T>C p.L1004P Missense 19/24 - 1
7-101847780-T-C c.3017T>C p.L1006P Missense 19/24 - 1
7-101847779-C-T c.3016C>T p.L1006= Synonymous 19/24 - 1
7-101847781-G-A c.3018G>A p.L1006= Synonymous 19/24 - 1
7-101847781-G-C c.3018G>C p.L1006= Synonymous 19/24 - 1
7-101847781-G-T c.3018G>T p.L1006= Synonymous 19/24 - 1
7-101847785-G-A c.3022G>A p.G1008S Missense 19/24 - 2
7-101847788-G-A c.3025G>A p.E1009K Missense 19/24 - 3
7-101847789-A-G c.3026A>G p.E1009G Missense 19/24 - 1
7-101847790-G-C c.3027G>C p.E1009D Missense 19/24 - 1
7-101847791-C-A c.3028C>A p.L1010I Missense 19/24 - 1
7-101847798-A-C c.3035A>C p.Q1012P Missense 19/24 - 1
7-101847799-G-C c.3036G>C p.Q1012H Missense 19/24 - 1
7-101847800-G-A c.3037G>A p.G1013S Missense 19/24 - 4
7-101847803-G-A c.3040G>A p.V1014I Missense 19/24 - 1
7-101847804-T-G c.3041T>G p.V1014G Missense 19/24 - 1
7-101847806-CT-TC c.3043_3044delinsTC p.L1015S Missense 19/24 - 1
7-101847807-TA-AT c.3044_3045delinsAT p.L1015H Missense 19/24 - 1
7-101847807-T-C c.3044T>C p.L1015P Missense 19/24 - 3
7-101847809-C-A c.3046C>A p.P1016T Missense 19/24 - 1
7-101847810-C-T c.3047C>T p.P1016L Missense 19/24 - 3
7-101847811-C-T c.3048C>T p.P1016= Synonymous 19/24 - 2
7-101847812-G-A c.3049G>A p.V1017I Missense 19/24 - 2
7-101847816-A-T c.3053A>T p.Q1018L Missense 19/24 - 1
7-101847817-G-C c.3054G>C p.Q1018H Missense 19/24 - 1
7-101847817-G-T c.3054G>T p.Q1018H Missense 19/24 - 1
7-101847818-G-A c.3055G>A p.G1019S Missense 19/24 - 3
7-101847819-G-A c.3056G>A p.G1019D Missense 19/24 - 2
7-101847822-A-G c.3059A>G p.Q1020R Missense 19/24 - 1
7-101847822-A-T c.3059A>T p.Q1020L Missense 19/24 - 1
7-101847825-A-G c.3062A>G p.Q1021R Missense 19/24 - 2
7-101847834-C-G c.3071C>G p.P1024R Missense 19/24 - 1
7-101847834-C-T c.3071C>T p.P1024L Missense 19/24 - 1
7-101848394-T-C c.3074T>C p.V1025A Missense 20/24 - 1
7-101848396-C-T c.3076C>T p.L1026F Missense 20/24 - 1
7-101848397-T-C c.3077T>C p.L1026P Missense 20/24 - 1
7-101848398-C-T c.3078C>T p.L1026= Synonymous 20/24 - 1
7-101848402-T-A c.3082T>A p.S1028T Missense 20/24 - 2
7-101848402-T-C c.3082T>C p.S1028P Missense 20/24 - 1
7-101848404-C-T c.3084C>T p.S1028= Synonymous 20/24 - 4
7-101848405-G-A c.3085G>A p.V1029M Missense 20/24 - 1
7-101848405-G-T c.3085G>T p.V1029L Missense 20/24 - 1
7-101848405-GTG-ATC c.3085_3087delinsATC p.V1029I Missense 20/24 - 1
7-101848406-T-A c.3086T>A p.V1029E Missense 20/24 - 1
7-101848406-T-C c.3086T>C p.V1029A Missense 20/24 - 1
7-101848408-A-T c.3088A>T p.T1030S Missense 20/24 - 1
7-101848412-C-T c.3092C>T p.S1031L Missense 20/24 - 1
7-101848413-G-A c.3093G>A p.S1031= Synonymous 20/24 - 1
7-101848413-G-C c.3093G>C p.S1031= Synonymous 20/24 - 1
7-101848413-G-T c.3093G>T p.S1031= Synonymous 20/24 - 1
7-101848414-C-T c.3094C>T p.L1032F Missense 20/24 - 1
7-101848417-C-A c.3097C>A p.Q1033K Missense 20/24 - 1
7-101848420-G-A c.3100G>A p.D1034N Missense 20/24 - 1
7-101848421-A-AC c.3104dup p.L1036Afs*23 Frameshift 20/24 - 1
7-101848424-C-T c.3104C>T p.P1035L Missense 20/24 - 2
7-101848425-G-A c.3105G>A p.P1035= Synonymous 20/24 - 1
7-101848430-A-G c.3110A>G p.Q1037R Missense 20/24 - 1
7-101848431-G-A c.3111G>A p.Q1037= Synonymous 20/24 - 1
7-101848433-A-G c.3113A>G p.Q1038R Missense 20/24 - 1
7-101848433-A-T c.3113A>T p.Q1038L Missense 20/24 - 1
7-101848439-G-A c.3119G>A p.C1040Y Missense 20/24 - 1
7-101848442-T-C c.3122T>C p.V1041A Missense 20/24 - 1
7-101848446-C-T c.3126C>T p.S1042= Synonymous 20/24 - 1
7-101848448-C-T c.3128C>T p.S1043L Missense 20/24 - 4
7-101851517-AGT-A c.3130+3086_3130+3087del - IntronicDeletion - 20/23 1
7-101854985-G-A c.3130+6535G>A - IntronicSNV - 20/23 1
7-101854985-G-T c.3130+6535G>T - IntronicSNV - 20/23 1
7-101860086-C-A c.3131-10561C>A - IntronicSNV - 20/23 1
7-101860086-C-T c.3131-10561C>T - IntronicSNV - 20/23 1
7-101860300-T-C c.3131-10347T>C - IntronicSNV - 20/23 1
7-101863666-A-G c.3131-6981A>G - IntronicSNV - 20/23 1
7-101864518-G-A c.3131-6129G>A - IntronicSNV - 20/23 1
7-101865210-C-A c.3131-5437C>A - IntronicSNV - 20/23 1
7-101870534-C-T c.3131-113C>T - IntronicSNV - 20/23 1
7-101870599-A-G c.3131-48A>G - IntronicSNV - 20/23 4
7-101870647-A-G c.3131A>G p.E1044G Missense 21/24 - 1
7-101870653-C-T c.3137C>T p.T1046I Missense 21/24 - 1
7-101870659-AG-TC c.3143_3144delinsTC p.K1048I Missense 21/24 - 1
7-101870661-A-C c.3145A>C p.T1049P Missense 21/24 - 1
7-101870663-C-A c.3147C>A p.T1049= Synonymous 21/24 - 1
7-101870663-C-G c.3147C>G p.T1049= Synonymous 21/24 - 1
7-101870663-C-T c.3147C>T p.T1049= Synonymous 21/24 - 1
7-101870666-C-T c.3150C>T p.S1050= Synonymous 21/24 - 1
7-101870667-G-T c.3151G>T p.A1051S Missense 21/24 - 1
7-101870670-AG-GA c.3154_3155delinsGA p.S1052D Missense 21/24 - 1
7-101870676-AG-CT c.3160_3161inv p.S1054L Missense 21/24 - 3
7-101870679-C-A c.3163C>A p.P1055T Missense 21/24 - 2
7-101870677-G-GC c.3164dup p.A1056Cfs*3 Frameshift 21/24 - 1
7-101870681-T-A c.3165T>A p.P1055= Synonymous 21/24 - 1
7-101870681-T-C c.3165T>C p.P1055= Synonymous 21/24 - 1
7-101870681-T-G c.3165T>G p.P1055= Synonymous 21/24 - 1
7-101870682-GC-G c.3170del p.P1057Lfs*5 Frameshift 21/24 - 1
7-101870687-T-A c.3171T>A p.P1057= Synonymous 21/24 - 1
7-101870687-T-C c.3171T>C p.P1057= Synonymous 21/24 - 1
7-101870687-T-G c.3171T>G p.P1057= Synonymous 21/24 - 1
7-101870688-G-C c.3172G>C p.E1058Q Missense 21/24 - 1
7-101870693-C-A c.3177C>A p.S1059= Synonymous 21/24 - 1
7-101870693-C-G c.3177C>G p.S1059= Synonymous 21/24 - 1
7-101870693-C-T c.3177C>T p.S1059= Synonymous 21/24 - 3
7-101870691-T-TC c.3179dup p.M1061Dfs*5 Frameshift 21/24 - 1
7-101870697-A-G c.3181A>G p.M1061V Missense 21/24 - 1
7-101870706-A-C c.3190A>C p.S1064R Missense 21/24 - 1
7-101870710-A-G c.3194A>G p.E1065G Missense 21/24 - 2
7-101870713-C-T c.3197C>T p.S1066L Missense 21/24 - 2
7-101870719-A-G c.3203A>G p.K1068R Missense 21/24 - 1
7-101870720-G-C c.3204G>C p.K1068N Missense 21/24 - 2
7-101870720-G-T c.3204G>T p.K1068N Missense 21/24 - 3
7-101870727-A-C c.3211A>C p.T1071P Missense 21/24 - 1
7-101870729-C-A c.3213C>A p.T1071= Synonymous 21/24 - 1
7-101870729-C-G c.3213C>G p.T1071= Synonymous 21/24 - 1
7-101870729-C-T c.3213C>T p.T1071= Synonymous 21/24 - 1
7-101870735-G-C c.3219G>C p.L1073= Synonymous 21/24 - 1
7-101870737-T-G c.3221T>G p.V1074G Missense 21/24 - 1
7-101870741-G-A c.3225G>A p.Q1075= Synonymous 21/24 - 1
7-101870741-G-T c.3225G>T p.Q1075H Missense 21/24 - 1
7-101870745-C-T c.3229C>T p.P1077S Missense 21/24 - 4
7-101870747-C-A c.3231C>A p.P1077= Synonymous 21/24 - 1
7-101870747-C-G c.3231C>G p.P1077= Synonymous 21/24 - 1
7-101870747-C-T c.3231C>T p.P1077= Synonymous 21/24 - 1
7-101870749-G-GT c.3234dup p.P1079Sfs*16 Frameshift 21/24 - 1
7-101870752-C-T c.3236C>T p.P1079L Missense 21/24 - 4
7-101870750-TC-T c.3240del p.I1081Sfs*39 Frameshift 21/24 - 1
7-101870757-A-C c.3241A>C p.I1081L Missense 21/24 - 1
7-101870757-CA-C c.3241del p.I1081Sfs*39 Frameshift 21/24 - 4
7-101870760-G-A c.3244G>A p.E1082K Missense 21/24 - 3
7-101870761-A-G c.3245A>G p.E1082G Missense 21/24 - 1
7-101870762-G-C c.3246G>C p.E1082D Missense 21/24 - 1
7-101870762-G-T c.3246G>T p.E1082D Missense 21/24 - 1
7-101870764-C-G c.3248C>G p.A1083G Missense 21/24 - 1
7-101870764-C-T c.3248C>T p.A1083V Missense 21/24 - 3
7-101870765-G-A c.3249G>A p.A1083= Synonymous 21/24 - 4
7-101870765-G-C c.3249G>C p.A1083= Synonymous 21/24 - 2
7-101870765-G-T c.3249G>T p.A1083= Synonymous 21/24 - 2
7-101870769-A-T c.3253A>T p.K1085* Nonsense 21/24 - 1
7-101870776-AG-A c.3260del p.S1087Tfs*33 Frameshift 21/24 - 1
7-101870777-C-T c.3261C>T p.S1087= Synonymous 21/24 - 1
7-101870778-A-G c.3262A>G p.K1088E Missense 21/24 - 1
7-101870778-A-T c.3262A>T p.K1088* Nonsense 21/24 - 1
7-101870779-A-G c.3263A>G p.K1088R Missense 21/24 - 1
7-101870783-A-C c.3267A>C p.P1089= Synonymous 21/24 - 1
7-101870783-A-G c.3267A>G p.P1089= Synonymous 21/24 - 1
7-101870783-A-T c.3267A>T p.P1089= Synonymous 21/24 - 1
7-101870784-C-T c.3268C>T p.P1090S Missense 21/24 - 1
7-101870783-AC-A c.3269del p.P1090Qfs*30 Frameshift 21/24 - 2
7-101870785-C-T c.3269C>T p.P1090L Missense 21/24 - 2
7-101870787-G-C c.3271G>C p.E1091Q Missense 21/24 - 1
7-101870791-C-T c.3275C>T p.P1092L Missense 21/24 - 1
7-101870792-C-T c.3276C>T p.P1092= Synonymous 21/24 - 1
7-101870799-C-T c.3283C>T p.P1095S Missense 21/24 - 1
7-101870800-C-T c.3284C>T p.P1095L Missense 21/24 - 1
7-101870801-G-A c.3285G>A p.P1095= Synonymous 21/24 - 1
7-101870808-TC-CG c.3292_3293delinsCG p.S1098R Missense 21/24 - 1
7-101870810-C-A c.3294C>A p.S1098= Synonymous 21/24 - 1
7-101870810-C-T c.3294C>T p.S1098= Synonymous 21/24 - 1
7-101870811-G-A c.3295G>A p.D1099N Missense 21/24 - 1
7-101870821-C-A c.3305C>A p.P1102H Missense 21/24 - 1
7-101870822-C-A c.3306C>A p.P1102= Synonymous 21/24 - 3
7-101870823-A-T c.3307A>T p.T1103S Missense 21/24 - 1
7-101870824-C-G c.3308C>G p.T1103R Missense 21/24 - 1
7-101870826-AC-GG c.3310_3311delinsGG p.T1104G Missense 21/24 - 1
7-101870830-C-T c.3314C>T p.P1105L Missense 21/24 - 3
7-101870831-G-A c.3315G>A p.P1105= Synonymous 21/24 - 1
7-101870831-G-C c.3315G>C p.P1105= Synonymous 21/24 - 1
7-101870831-G-T c.3315G>T p.P1105= Synonymous 21/24 - 1
7-101870834-GC-G c.3320del p.P1107Lfs*13 Frameshift 21/24 - 1
7-101870836-C-A c.3320C>A p.P1107H Missense 21/24 - 1
7-101870838-C-G c.3322C>G p.L1108V Missense 21/24 - 1
7-101870842-C-T c.3326C>T p.S1109F Missense 21/24 - 1
7-101870843-C-A c.3327C>A p.S1109= Synonymous 21/24 - 5
7-101870843-C-G c.3327C>G p.S1109= Synonymous 21/24 - 3
7-101870843-C-T c.3327C>T p.S1109= Synonymous 21/24 - 3
7-101870845-G-A c.3329G>A p.G1110E Missense 21/24 - 1
7-101870849-C-A c.3333C>A p.H1111Q Missense 21/24 - 1
7-101870850-CT-C c.3334del p.S1112Rfs*8 Frameshift 21/24 - 1
7-101870851-C-G c.3335C>G p.S1112W Missense 21/24 - 1
7-101870851-C-T c.3335C>T p.S1112L Missense 21/24 - 2
7-101870856-C-T c.3340C>T p.L1114F Missense 21/24 - 1
7-101870859-A-ACC c.3343_3344insCC p.S1115Tfs*6 Frameshift 21/24 - 1
7-101870865-C-T c.3349C>T p.Q1117* Nonsense 21/24 - 2
7-101870868-G-C c.3352G>C p.E1118Q Missense 21/24 - 1
7-101870871-T-G c.3355T>G p.L1119V Missense 21/24 - 1
7-101870871-TT-CC c.3355_3356delinsCC p.L1119P Missense 21/24 - 1
7-101870872-T-G c.3356T>G p.L1119* Nonsense 21/24 - 1
7-101870877-G-T c.3361G>T p.A1121S Missense 21/24 - 1
7-101870883-TC-CT c.3367_3368delinsCT p.S1123L Missense 21/24 - 1
7-101870884-C-G c.3368C>G p.S1123C Missense 21/24 - 4
7-101870884-C-T c.3368C>T p.S1123F Missense 21/24 - 2
7-101870887-C-A c.3371C>A p.P1124Q Missense 21/24 - 1
7-101870887-C-G c.3371C>G p.P1124R Missense 21/24 - 1
7-101870887-C-T c.3371C>T p.P1124L Missense 21/24 - 1
7-101870888-G-A c.3372G>A p.P1124= Synonymous 21/24 - 2
7-101870888-G-C c.3372G>C p.P1124= Synonymous 21/24 - 1
7-101870888-G-T c.3372G>T p.P1124= Synonymous 21/24 - 1
7-101870889-G-T c.3373G>T p.E1125* Nonsense 21/24 - 1
7-101870897-C-CA c.3382dup p.T1128Nfs*36 Frameshift 21/24 - 1
7-101870899-C-G c.3383C>G p.T1128S Missense 21/24 - 1
7-101870899-C-T c.3383C>T p.T1128I Missense 21/24 - 1
7-101870904-G-T c.3388G>T p.G1130C Missense 21/24 - 1
7-101870908-T-A c.3392T>A p.I1131K Missense 21/24 - 1
7-101870913-A-C c.3397A>C p.K1133Q Missense 21/24 - 1
7-101870916-C-T c.3400C>T p.R1134W Missense 21/24 - 3
7-101870917-G-A c.3401G>A p.R1134Q Missense 21/24 - 1
7-101870920-T-A c.3404T>A p.V1135E Missense 21/24 - 1
7-101870921-G-A c.3405G>A p.V1135= Synonymous 21/24 - 2
7-101870922-A-C c.3406A>C p.K1136Q Missense 21/24 - 1
7-101870924-G-C c.3408G>C p.K1136N Missense 21/24 - 1
7-101870924-G-T c.3408G>T p.K1136N Missense 21/24 - 1
7-101870925-G-A c.3409G>A p.E1137K Missense 21/24 - 1
7-101870929-T-A c.3413T>A p.V1138E Missense 21/24 - 1
7-101870931-C-T c.3415C>T p.L1139= Synonymous 21/24 - 1
7-101870935-C-T c.3419C>T p.T1140M Missense 21/24 - 2
7-101870937-G-A c.3421G>A p.D1141N Missense 21/24 - 1
7-101870937-G-T c.3421G>T p.D1141Y Missense 21/24 - 1
7-101870939-C-T c.3423C>T p.D1141= Synonymous 21/24 - 1
7-101870941-A-T c.3425A>T p.N1142I Missense 21/24 - 1
7-101870946-C-A c.3430C>A p.L1144I Missense 21/24 - 1
7-101870947-T-C c.3431T>C p.L1144P Missense 21/24 - 1
7-101870948-C-T c.3432C>T p.L1144= Synonymous 21/24 - 4
7-101870949-G-A c.3433G>A p.G1145S Missense 21/24 - 3
7-101871069-G-A c.3433+120G>A - IntronicSNV - 21/23 1
7-101872641-G-A c.3433+1692G>A - IntronicSNV - 21/23 1
7-101877187-A-G c.3434-145A>G - IntronicSNV - 21/23 1
7-101877336-G-A c.3438G>A p.Q1146= Synonymous 22/24 - 1
7-101877337-C-T c.3439C>T p.R1147C Missense 22/24 - 1
7-101877338-G-A c.3440G>A p.R1147H Missense 22/24 - 2
7-101877351-G-A c.3453G>A p.E1151= Synonymous 22/24 - 1
7-101877354-C-A c.3456C>A p.T1152= Synonymous 22/24 - 1
7-101877354-C-G c.3456C>G p.T1152= Synonymous 22/24 - 1
7-101877354-C-T c.3456C>T p.T1152= Synonymous 22/24 - 1
7-101877362-G-T c.3464G>T p.G1155V Missense 22/24 - 1
7-101877363-G-A c.3465G>A p.G1155= Synonymous 22/24 - 1
7-101877364-C-T c.3466C>T p.L1156F Missense 22/24 - 1
7-101877367-A-C c.3469A>C p.T1157P Missense 22/24 - 1
7-101877373-G-A c.3475G>A p.G1159S Missense 22/24 - 1
7-101877374-G-A c.3476G>A p.G1159D Missense 22/24 - 1
7-101877382-T-C c.3484T>C p.S1162P Missense 22/24 - 1
7-101877383-C-T c.3485C>T p.S1162F Missense 22/24 - 2
7-101877385-G-T c.3487G>T p.D1163Y Missense 22/24 - 1
7-101877387-C-T c.3489C>T p.D1163= Synonymous 22/24 - 3
7-101877388-C-A c.3490C>A p.L1164I Missense 22/24 - 2
7-101877390-C-T c.3492C>T p.L1164= Synonymous 22/24 - 1
7-101877391-C-T c.3493C>T p.L1165F Missense 22/24 - 3
7-101877394-G-A c.3496G>A p.A1166T Missense 22/24 - 1
7-101877394-GC-TG c.3496_3497delinsTG p.A1166C Missense 22/24 - 1
7-101877397-C-T c.3499C>T p.R1167C Missense 22/24 - 4
7-101877398-G-A c.3500G>A p.R1167H Missense 22/24 - 2
7-101877401-C-A c.3503C>A p.P1168H Missense 22/24 - 1
7-101877403-A-C c.3505A>C p.K1169Q Missense 22/24 - 2
7-101877405-A-C c.3507A>C p.K1169N Missense 22/24 - 1
7-101877405-A-T c.3507A>T p.K1169N Missense 22/24 - 1
7-101877406-C-G c.3508C>G p.P1170A Missense 22/24 - 1
7-101877407-C-T c.3509C>T p.P1170L Missense 22/24 - 2
7-101877408-C-A c.3510C>A p.P1170= Synonymous 22/24 - 2
7-101877410-G-A c.3512G>A p.W1171* Nonsense 22/24 - 1
7-101877410-G-T c.3512G>T p.W1171L Missense 22/24 - 1
7-101877411-G-A c.3513G>A p.W1171* Nonsense 22/24 - 2
7-101877411-G-T c.3513G>T p.W1171C Missense 22/24 - 1
7-101877419-T-C c.3521T>C p.L1174P Missense 22/24 - 1
7-101877422-G-A c.3524G>A p.S1175N Missense 22/24 - 1
7-101877427-A-T c.3529A>T p.K1177* Nonsense 22/24 - 1
7-101877430-GGA-AGC c.3532_3534delinsAGC p.G1178S Missense 22/24 - 1
7-101877431-G-A c.3533G>A p.G1178E Missense 22/24 - 2
7-101877433-C-T c.3535C>T p.R1179* Nonsense 22/24 - 4
7-101877434-G-A c.3536G>A p.R1179Q Missense 22/24 - 2
7-101877438-G-A c.3540G>A p.E1180= Synonymous 22/24 - 1
7-101877439-C-T c.3541C>T p.P1181S Missense 22/24 - 3
7-101877440-C-T c.3542C>T p.P1181L Missense 22/24 - 3
7-101877441-C-A c.3543C>A p.P1181= Synonymous 22/24 - 1
7-101877441-C-G c.3543C>G p.P1181= Synonymous 22/24 - 1
7-101877441-C-T c.3543C>T p.P1181= Synonymous 22/24 - 1
7-101877444-C-T c.3546C>T p.F1182= Synonymous 22/24 - 1
7-101877449-G-A c.3551G>A p.R1184Q Missense 22/24 - 1
7-101877463-C-T c.3565C>T p.L1189= Synonymous 22/24 - 1
7-101877465-G-A c.3567G>A p.L1189= Synonymous 22/24 - 1
7-101877465-G-C c.3567G>C p.L1189= Synonymous 22/24 - 1
7-101877465-G-T c.3567G>T p.L1189= Synonymous 22/24 - 1
7-101877468-C-G c.3570C>G p.N1190K Missense 22/24 - 1
7-101877468-C-T c.3570C>T p.N1190= Synonymous 22/24 - 6
7-101877469-G-A c.3571G>A p.D1191N Missense 22/24 - 2
7-101877471-C-A c.3573C>A p.D1191E Missense 22/24 - 1
7-101877472-C-A c.3574C>A p.P1192T Missense 22/24 - 1
7-101877472-C-T c.3574C>T p.P1192S Missense 22/24 - 1
7-101877475-A-G c.3577A>G p.N1193D Missense 22/24 - 1
7-101877477-C-A c.3579C>A p.N1193K Missense 22/24 - 1
7-101877477-C-T c.3579C>T p.N1193= Synonymous 22/24 - 1
7-101877481-G-A c.3583G>A p.V1195M Missense 22/24 - 1
7-101877481-G-T c.3583G>T p.V1195L Missense 22/24 - 1
7-101877489-G-A c.3591G>A p.K1197= Synonymous 22/24 - 1
7-101877499-A-G c.3601A>G p.M1201V Missense 22/24 - 1
7-101877505-C-T c.3607C>T p.R1203W Missense 22/24 - 2
7-101877506-G-A c.3608G>A p.R1203Q Missense 22/24 - 1
7-101877507-G-A c.3609G>A p.R1203= Synonymous 22/24 - 1
7-101877537-C-T c.3622+17C>T - IntronicSNV - 22/23 1
7-101881173-A-G c.3623-1427A>G - IntronicSNV - 22/23 1
7-101882503-T-C c.3623-97T>C - IntronicSNV - 22/23 1
7-101882503-T-G c.3623-97T>G - IntronicSNV - 22/23 1
7-101882601-C-A c.3624C>A p.A1208= Synonymous 23/24 - 1
7-101882601-C-G c.3624C>G p.A1208= Synonymous 23/24 - 1
7-101882601-C-T c.3624C>T p.A1208= Synonymous 23/24 - 1
7-101882605-A-G c.3628A>G p.M1210V Missense 23/24 - 1
7-101882609-A-G c.3632A>G p.K1211R Missense 23/24 - 1
7-101882611-C-T c.3634C>T p.R1212W Missense 23/24 - 6
7-101882614-C-T c.3637C>T p.R1213W Missense 23/24 - 1
7-101882615-G-A c.3638G>A p.R1213Q Missense 23/24 - 2
7-101882615-G-T c.3638G>T p.R1213L Missense 23/24 - 1
7-101882621-G-A c.3644G>A p.S1215N Missense 23/24 - 1
7-101882625-A-C c.3648A>C p.S1216= Synonymous 23/24 - 1
7-101882625-A-G c.3648A>G p.S1216= Synonymous 23/24 - 1
7-101882625-A-T c.3648A>T p.S1216= Synonymous 23/24 - 1
7-101882630-G-A c.3653G>A p.S1218N Missense 23/24 - 2
7-101882631-T-C c.3654T>C p.S1218= Synonymous 23/24 - 1
7-101882635-A-G c.3658A>G p.S1220G Missense 23/24 - 1
7-101882637-C-T c.3660C>T p.S1220= Synonymous 23/24 - 1
7-101882641-C-T c.3664C>T p.P1222S Missense 23/24 - 1
7-101882646-C-T c.3669C>T p.C1223= Synonymous 23/24 - 2
7-101882647-G-A c.3670G>A p.E1224K Missense 23/24 - 1
7-101882651-C-T c.3674C>T p.P1225L Missense 23/24 - 1
7-101882652-G-A c.3675G>A p.P1225= Synonymous 23/24 - 1
7-101882652-G-C c.3675G>C p.P1225= Synonymous 23/24 - 1
7-101882652-G-T c.3675G>T p.P1225= Synonymous 23/24 - 1
7-101882657-C-G c.3680C>G p.S1227C Missense 23/24 - 1
7-101882657-C-T c.3680C>T p.S1227F Missense 23/24 - 5
7-101882659-G-C c.3682G>C p.V1228L Missense 23/24 - 1
7-101882661-CG-C c.3686del p.G1229Afs*16 Frameshift 23/24 - 1
7-101882668-G-A c.3691G>A p.E1231K Missense 23/24 - 1
7-101882669-A-C c.3692A>C p.E1231A Missense 23/24 - 1
7-101882670-G-A c.3693G>A p.E1231= Synonymous 23/24 - 1
7-101882676-C-T c.3699C>T p.S1233= Synonymous 23/24 - 2
7-101882677-C-T c.3700C>T p.Q1234* Nonsense 23/24 - 1
7-101882680-G-C c.3703G>C p.G1235R Missense 23/24 - 1
7-101882683-G-A c.3706G>A p.A1236T Missense 23/24 - 2
7-101882684-C-G c.3707C>G p.A1236G Missense 23/24 - 1
7-101882685-C-CT c.3708_3709insT p.S1237* Nonsense 23/24 - 1
7-101882686-AG-GC c.3709_3710delinsGC p.S1237A Missense 23/24 - 1
7-101882688-C-T c.3711C>T p.S1237= Synonymous 23/24 - 2
7-101882690-C-T c.3713C>T p.P1238L Missense 23/24 - 1
7-101882687-GC-G c.3715del p.Q1239Sfs*6 Frameshift 23/24 - 2
7-101882694-G-A c.3717G>A p.Q1239= Synonymous 23/24 - 1
7-101882696-C-A c.3719C>A p.P1240H Missense 23/24 - 3
7-101882695-CCCCAG-C c.3720_3724del p.Q1241Pfs*64 Frameshift 23/24 - 1
7-101882702-A-C c.3725A>C p.H1242P Missense 23/24 - 1
7-101882708-T-G c.3731T>G p.L1244R Missense 23/24 - 1
7-101882709-G-A c.3732G>A p.L1244= Synonymous 23/24 - 1
7-101882709-G-T c.3732G>T p.L1244= Synonymous 23/24 - 1
7-101882714-A-G c.3737A>G p.K1246R Missense 23/24 - 1
7-101882716-C-A c.3739C>A p.P1247T Missense 23/24 - 1
7-101882717-C-A c.3740C>A p.P1247H Missense 23/24 - 1
7-101882719-C-T c.3742C>T p.R1248W Missense 23/24 - 4
7-101882720-G-A c.3743G>A p.R1248Q Missense 23/24 - 3
7-101882720-G-T c.3743G>T p.R1248L Missense 23/24 - 2
7-101882723-T-G c.3746T>G p.V1249G Missense 23/24 - 1
7-101882725-G-A c.3748G>A p.V1250M Missense 23/24 - 1
7-101882727-G-A c.3750G>A p.V1250= Synonymous 23/24 - 1
7-101882727-G-C c.3750G>C p.V1250= Synonymous 23/24 - 1
7-101882727-G-T c.3750G>T p.V1250= Synonymous 23/24 - 1
7-101882735-C-T c.3758C>T p.P1253L Missense 23/24 - 4
7-101882736-G-A c.3759G>A p.P1253= Synonymous 23/24 - 2
7-101882736-G-C c.3759G>C p.P1253= Synonymous 23/24 - 3
7-101882736-G-T c.3759G>T p.P1253= Synonymous 23/24 - 1
7-101882742-G-A c.3765G>A p.E1255= Synonymous 23/24 - 4
7-101882740-GAGA-G c.3766_3768del p.K1256del InFrameDeletion 23/24 - 1
7-101882746-G-T c.3769G>T p.E1257* Nonsense 23/24 - 1
7-101882751-G-A c.3774G>A p.A1258= Synonymous 23/24 - 1
7-101882751-G-C c.3774G>C p.A1258= Synonymous 23/24 - 1
7-101882751-G-T c.3774G>T p.A1258= Synonymous 23/24 - 1
7-101882752-C-T c.3775C>T p.L1259= Synonymous 23/24 - 1
7-101882755-A-G c.3778A>G p.K1260E Missense 23/24 - 1
7-101882756-A-G c.3779A>G p.K1260R Missense 23/24 - 1
7-101882758-C-A c.3781C>A p.R1261= Synonymous 23/24 - 1
7-101882758-C-T c.3781C>T p.R1261* Nonsense 23/24 - 1
7-101882759-G-A c.3782G>A p.R1261Q Missense 23/24 - 2
7-101882759-G-T c.3782G>T p.R1261L Missense 23/24 - 1
7-101882763-G-A c.3786G>A p.A1262= Synonymous 23/24 - 6
7-101882763-G-C c.3786G>C p.A1262= Synonymous 23/24 - 5
7-101882763-G-T c.3786G>T p.A1262= Synonymous 23/24 - 6
7-101882765-A-G c.3788A>G p.Y1263C Missense 23/24 - 1
7-101882767-C-T c.3790C>T p.Q1264* Nonsense 23/24 - 1
7-101882769-G-A c.3792G>A p.Q1264= Synonymous 23/24 - 1
7-101882770-C-T c.3793C>T p.Q1265* Nonsense 23/24 - 2
7-101882779-T-TA c.3803dup p.Y1268* Nonsense 23/24 - 1
7-101882782-C-T c.3805C>T p.P1269S Missense 23/24 - 1
7-101882786-C-T c.3809C>T p.S1270L Missense 23/24 - 1
7-101882787-A-T c.3810A>T p.S1270= Synonymous 23/24 - 1
7-101882789-C-G c.3812C>G p.P1271R Missense 23/24 - 1
7-101882789-C-T c.3812C>T p.P1271L Missense 23/24 - 2
7-101882792-A-T c.3815A>T p.K1272I Missense 23/24 - 1
7-101882799-C-A c.3822C>A p.I1274= Synonymous 23/24 - 1
7-101882799-C-T c.3822C>T p.I1274= Synonymous 23/24 - 3
7-101882800-G-A c.3823G>A p.E1275K Missense 23/24 - 1
7-101882800-G-T c.3823G>T p.E1275* Nonsense 23/24 - 1
7-101882804-A-C c.3827A>C p.D1276A Missense 23/24 - 1
7-101882804-A-T c.3827A>T p.D1276V Missense 23/24 - 1
7-101882807-T-C c.3830T>C p.L1277P Missense 23/24 - 1
7-101882808-C-A c.3831C>A p.L1277= Synonymous 23/24 - 1
7-101882808-C-G c.3831C>G p.L1277= Synonymous 23/24 - 1
7-101882808-C-T c.3831C>T p.L1277= Synonymous 23/24 - 1
7-101882809-G-A c.3832G>A p.A1278T Missense 23/24 - 1
7-101882810-C-T c.3833C>T p.A1278V Missense 23/24 - 1
7-101882818-C-T c.3841C>T p.L1281F Missense 23/24 - 2
7-101882819-T-A c.3842T>A p.L1281H Missense 23/24 - 1
7-101882824-C-G c.3847C>G p.L1283V Missense 23/24 - 1
7-101882825-T-A c.3848T>A p.L1283Q Missense 23/24 - 1
7-101882832-C-A c.3855C>A p.T1285= Synonymous 23/24 - 5
7-101882832-C-G c.3855C>G p.T1285= Synonymous 23/24 - 1
7-101882832-C-T c.3855C>T p.T1285= Synonymous 23/24 - 1
7-101882834-G-T c.3857G>T p.S1286I Missense 23/24 - 1
7-101882838-C-T c.3861C>T p.T1287= Synonymous 23/24 - 1
7-101882839-G-A c.3862G>A p.V1288I Missense 23/24 - 1
7-101882839-G-C c.3862G>C p.V1288L Missense 23/24 - 1
7-101882840-T-A c.3863T>A p.V1288D Missense 23/24 - 1
7-101882843-T-A c.3866T>A p.I1289N Missense 23/24 - 1
7-101882847-C-T c.3870C>T p.N1290= Synonymous 23/24 - 1
7-101882848-T-A c.3871T>A p.W1291R Missense 23/24 - 1
7-101882849-G-C c.3872G>C p.W1291S Missense 23/24 - 1
7-101882851-T-A c.3874T>A p.F1292I Missense 23/24 - 1
7-101882852-T-A c.3875T>A p.F1292Y Missense 23/24 - 1
7-101882853-C-T c.3876C>T p.F1292= Synonymous 23/24 - 2
7-101882860-T-A c.3883T>A p.Y1295N Missense 23/24 - 1
7-101882864-G-A c.3887G>A p.R1296K Missense 23/24 - 1
7-101882868-C-T c.3887+4C>T - IntronicSNV - 23/23 1
7-101882870-A-G c.3887+6A>G - IntronicSNV - 23/23 1
7-101882871-C-T c.3887+7C>T - IntronicSNV - 23/23 1
7-101882930-C-T c.3887+66C>T - IntronicSNV - 23/23 1
7-101886704-A-G c.3887+3840A>G - IntronicSNV - 23/23 1
7-101891697-G-A c.3893G>A p.R1298Q Missense 24/24 - 1
7-101891702-C-A c.3898C>A p.R1300S Missense 24/24 - 1
7-101891702-C-T c.3898C>T p.R1300C Missense 24/24 - 3
7-101891703-G-A c.3899G>A p.R1300H Missense 24/24 - 1
7-101891704-GC-G c.3900del p.R1301Efs*184 Frameshift 24/24 - 1
7-101891711-ACTG-A c.3907_3909del p.L1303del InFrameDeletion 24/24 - 1
7-101891713-G-A c.3909G>A p.L1303= Synonymous 24/24 - 1
7-101891714-T-G c.3910T>G p.F1304V Missense 24/24 - 1
7-101891716-C-T c.3912C>T p.F1304= Synonymous 24/24 - 2
7-101891717-A-G c.3913A>G p.I1305V Missense 24/24 - 1
7-101891729-C-G c.3925C>G p.Q1309E Missense 24/24 - 1
7-101891729-C-T c.3925C>T p.Q1309* Nonsense 24/24 - 3
7-101891730-A-C c.3926A>C p.Q1309P Missense 24/24 - 1
7-101891733-C-T c.3929C>T p.A1310V Missense 24/24 - 1
7-101891738-A-G c.3934A>G p.S1312G Missense 24/24 - 3
7-101891741-C-T c.3937C>T p.Q1313* Nonsense 24/24 - 1
7-101891744-GG-TT c.3940_3941delinsTT p.G1314F Missense 24/24 - 1
7-101891748-A-T c.3944A>T p.Q1315L Missense 24/24 - 1
7-101891751-C-T c.3947C>T p.A1316V Missense 24/24 - 1
7-101891752-G-A c.3948G>A p.A1316= Synonymous 24/24 - 1
7-101891752-G-C c.3948G>C p.A1316= Synonymous 24/24 - 1
7-101891752-G-T c.3948G>T p.A1316= Synonymous 24/24 - 1
7-101891755-C-A c.3951C>A p.G1317= Synonymous 24/24 - 4
7-101891755-C-G c.3951C>G p.G1317= Synonymous 24/24 - 3
7-101891755-C-T c.3951C>T p.G1317= Synonymous 24/24 - 3
7-101891766-C-T c.3962C>T p.S1321L Missense 24/24 - 3
7-101891767-A-C c.3963A>C p.S1321= Synonymous 24/24 - 1
7-101891767-A-G c.3963A>G p.S1321= Synonymous 24/24 - 1
7-101891767-A-T c.3963A>T p.S1321= Synonymous 24/24 - 1
7-101891768-C-T c.3964C>T p.P1322S Missense 24/24 - 1
7-101891771-TC-GG c.3967_3968delinsGG p.S1323G Missense 24/24 - 3
7-101891773-G-A c.3969G>A p.S1323= Synonymous 24/24 - 2
7-101891773-G-C c.3969G>C p.S1323= Synonymous 24/24 - 1
7-101891773-G-T c.3969G>T p.S1323= Synonymous 24/24 - 1
7-101891778-G-A c.3974G>A p.R1325H Missense 24/24 - 2
7-101891778-G-T c.3974G>T p.R1325L Missense 24/24 - 1
7-101891783-G-T c.3979G>T p.G1327C Missense 24/24 - 1
7-101891786-C-A c.3982C>A p.R1328= Synonymous 24/24 - 1
7-101891786-C-T c.3982C>T p.R1328W Missense 24/24 - 2
7-101891788-G-A c.3984G>A p.R1328= Synonymous 24/24 - 1
7-101891788-G-C c.3984G>C p.R1328= Synonymous 24/24 - 1
7-101891788-G-T c.3984G>T p.R1328= Synonymous 24/24 - 1
7-101891787-G-A c.3983G>A p.R1328Q Missense 24/24 - 1
7-101891790-C-T c.3986C>T p.A1329V Missense 24/24 - 1
7-101891792-G-C c.3988G>C p.A1330P Missense 24/24 - 1
7-101891793-C-T c.3989C>T p.A1330V Missense 24/24 - 2
7-101891794-G-A c.3990G>A p.A1330= Synonymous 24/24 - 2
7-101891794-G-C c.3990G>C p.A1330= Synonymous 24/24 - 2
7-101891794-G-T c.3990G>T p.A1330= Synonymous 24/24 - 2
7-101891795-C-T c.3991C>T p.P1331S Missense 24/24 - 1
7-101891803-G-A c.3999G>A p.S1333= Synonymous 24/24 - 1
7-101891803-G-C c.3999G>C p.S1333= Synonymous 24/24 - 1
7-101891803-G-T c.3999G>T p.S1333= Synonymous 24/24 - 1
7-101891804-G-A c.4000G>A p.E1334K Missense 24/24 - 1
7-101891806-G-C c.4002G>C p.E1334D Missense 24/24 - 1
7-101891807-G-A c.4003G>A p.G1335S Missense 24/24 - 1
7-101891809-C-A c.4005C>A p.G1335= Synonymous 24/24 - 1
7-101891809-C-G c.4005C>G p.G1335= Synonymous 24/24 - 1
7-101891809-C-T c.4005C>T p.G1335= Synonymous 24/24 - 2
7-101891813-A-T c.4009A>T p.S1337C Missense 24/24 - 2
7-101891815-C-T c.4011C>T p.S1337= Synonymous 24/24 - 1
7-101891817-G-T c.4013G>T p.C1338F Missense 24/24 - 1
7-101891820-A-T c.4016A>T p.D1339V Missense 24/24 - 1
7-101891822-G-A c.4018G>A p.G1340S Missense 24/24 - 2
7-101891825-G-A c.4021G>A p.V1341M Missense 24/24 - 1
7-101891827-G-A c.4023G>A p.V1341= Synonymous 24/24 - 1
7-101891829-A-C c.4025A>C p.E1342A Missense 24/24 - 1
7-101891830-G-T c.4026G>T p.E1342D Missense 24/24 - 1
7-101891834-A-G c.4030A>G p.T1344A Missense 24/24 - 1
7-101891834-A-T c.4030A>T p.T1344S Missense 24/24 - 1
7-101891836-T-C c.4032T>C p.T1344= Synonymous 24/24 - 1
7-101891837-G-A c.4033G>A p.E1345K Missense 24/24 - 1
7-101891839-G-C c.4035G>C p.E1345D Missense 24/24 - 2
7-101891839-G-T c.4035G>T p.E1345D Missense 24/24 - 1
7-101891840-G-T c.4036G>T p.G1346C Missense 24/24 - 2
7-101891841-G-A c.4037G>A p.G1346D Missense 24/24 - 3
7-101891842-C-A c.4038C>A p.G1346= Synonymous 24/24 - 1
7-101891842-C-G c.4038C>G p.G1346= Synonymous 24/24 - 1
7-101891842-C-T c.4038C>T p.G1346= Synonymous 24/24 - 1
7-101891847-GC-AG c.4043_4044delinsAG p.G1348E Missense 24/24 - 1
7-101891847-G-T c.4043G>T p.G1348V Missense 24/24 - 1
7-101891852-G-A c.4048G>A p.A1350T Missense 24/24 - 1
7-101891855-G-A c.4051G>A p.D1351N Missense 24/24 - 1
7-101891862-A-C c.4058A>C p.E1353A Missense 24/24 - 1
7-101891865-A-G c.4061A>G p.E1354G Missense 24/24 - 1
7-101891876-C-T c.4072C>T p.Q1358* Nonsense 24/24 - 1
7-101891877-A-T c.4073A>T p.Q1358L Missense 24/24 - 1
7-101891882-G-A c.4078G>A p.E1360K Missense 24/24 - 1
7-101891885-G-A c.4081G>A p.A1361T Missense 24/24 - 1
7-101891888-G-T c.4084G>T p.E1362* Nonsense 24/24 - 1
7-101891891-C-A c.4087C>A p.R1363= Synonymous 24/24 - 1
7-101891891-CG-TA c.4087_4088delinsTA p.R1363* Nonsense 24/24 - 1
7-101891891-C-T c.4087C>T p.R1363W Missense 24/24 - 2
7-101891898-A-C c.4094A>C p.E1365A Missense 24/24 - 1
7-101891900-G-A c.4096G>A p.V1366M Missense 24/24 - 1
7-101891904-C-T c.4100C>T p.P1367L Missense 24/24 - 1
7-101891905-G-T c.4101G>T p.P1367= Synonymous 24/24 - 1
7-101891907-G-A c.4103G>A p.R1368Q Missense 24/24 - 2
7-101891912-G-A c.4108G>A p.A1370T Missense 24/24 - 1
7-101891913-C-T c.4109C>T p.A1370V Missense 24/24 - 3
7-101891915-G-A c.4111G>A p.E1371K Missense 24/24 - 1
7-101891915-G-C c.4111G>C p.E1371Q Missense 24/24 - 1
7-101891924-G-A c.4120G>A p.E1374K Missense 24/24 - 1
7-101891927-C-A c.4123C>A p.P1375T Missense 24/24 - 1
7-101891936-T-A c.4132T>A p.S1378T Missense 24/24 - 1
7-101891936-T-G c.4132T>G p.S1378A Missense 24/24 - 1
7-101891938-G-A c.4134G>A p.S1378= Synonymous 24/24 - 1
7-101891938-G-C c.4134G>C p.S1378= Synonymous 24/24 - 1
7-101891939-G-A c.4135G>A p.G1379R Missense 24/24 - 1
7-101891940-G-A c.4136G>A p.G1379E Missense 24/24 - 1
7-101891942-A-C c.4138A>C p.T1380P Missense 24/24 - 1
7-101891942-A-G c.4138A>G p.T1380A Missense 24/24 - 1
7-101891943-C-T c.4139C>T p.T1380I Missense 24/24 - 1
7-101891944-C-A c.4140C>A p.T1380= Synonymous 24/24 - 1
7-101891944-C-G c.4140C>G p.T1380= Synonymous 24/24 - 1
7-101891944-C-T c.4140C>T p.T1380= Synonymous 24/24 - 1
7-101891946-C-T c.4142C>T p.P1381L Missense 24/24 - 4
7-101891949-G-A c.4145G>A p.G1382D Missense 24/24 - 1
7-101891952-C-A c.4148C>A p.P1383Q Missense 24/24 - 1
7-101891954-G-A c.4150G>A p.D1384N Missense 24/24 - 1
7-101891955-A-C c.4151A>C p.D1384A Missense 24/24 - 1
7-101891955-A-G c.4151A>G p.D1384G Missense 24/24 - 1
7-101891957-G-A c.4153G>A p.D1385N Missense 24/24 - 1
7-101891957-G-T c.4153G>T p.D1385Y Missense 24/24 - 1
7-101891958-A-C c.4154A>C p.D1385A Missense 24/24 - 1
7-101891963-C-A c.4159C>A p.R1387S Missense 24/24 - 1
7-101891970-A-C c.4166A>C p.D1389A Missense 24/24 - 1
7-101891972-G-A c.4168G>A p.D1390N Missense 24/24 - 1
7-101891973-A-C c.4169A>C p.D1390A Missense 24/24 - 1
7-101891974-C-A c.4170C>A p.D1390E Missense 24/24 - 1
7-101891974-C-T c.4170C>T p.D1390= Synonymous 24/24 - 1
7-101891976-A-C c.4172A>C p.H1391P Missense 24/24 - 1
7-101891978-G-A c.4174G>A p.E1392K Missense 24/24 - 2
7-101891978-G-C c.4174G>C p.E1392Q Missense 24/24 - 1
7-101891979-A-C c.4175A>C p.E1392A Missense 24/24 - 1
7-101891980-G-C c.4176G>C p.E1392D Missense 24/24 - 1
7-101891981-G-A c.4177G>A p.G1393R Missense 24/24 - 1
7-101891984-G-A c.4180G>A p.G1394S Missense 24/24 - 1
7-101891985-G-A c.4181G>A p.G1394D Missense 24/24 - 1
7-101891987-C-A c.4183C>A p.P1395T Missense 24/24 - 2
7-101891988-C-T c.4184C>T p.P1395L Missense 24/24 - 1
7-101891990-G-A c.4186G>A p.V1396M Missense 24/24 - 1
7-101891990-G-C c.4186G>C p.V1396L Missense 24/24 - 1
7-101891991-T-A c.4187T>A p.V1396E Missense 24/24 - 1
7-101891991-T-G c.4187T>G p.V1396G Missense 24/24 - 2
7-101891994-A-C c.4190A>C p.E1397A Missense 24/24 - 1
7-101891995-A-C c.4191A>C p.E1397D Missense 24/24 - 1
7-101891998-C-A c.4194C>A p.G1398= Synonymous 24/24 - 1
7-101891998-C-G c.4194C>G p.G1398= Synonymous 24/24 - 1
7-101891998-C-T c.4194C>T p.G1398= Synonymous 24/24 - 1
7-101891999-C-G c.4195C>G p.P1399A Missense 24/24 - 1
7-101892002-GGG-TGT c.4198_4200delinsTGT p.G1400C Missense 24/24 - 1
7-101892000-C-CG c.4200dup p.P1401Afs*150 Frameshift 24/24 - 1
7-101892014-A-C c.4210A>C p.S1404R Missense 24/24 - 1
7-101892016-C-A c.4212C>A p.S1404R Missense 24/24 - 1
7-101892016-C-G c.4212C>G p.S1404R Missense 24/24 - 1
7-101892017-C-A c.4213C>A p.P1405T Missense 24/24 - 1
7-101892017-C-T c.4213C>T p.P1405S Missense 24/24 - 1
7-101892022-C-T c.4218C>T p.A1406= Synonymous 24/24 - 1
7-101892023-TC-GG c.4219_4220delinsGG p.S1407G Missense 24/24 - 1
7-101892026-G-T c.4222G>T p.A1408S Missense 24/24 - 1
7-101892029-A-C c.4225A>C p.T1409P Missense 24/24 - 1
7-101892038-G-A c.4234G>A p.A1412T Missense 24/24 - 1
7-101892047-G-C c.4243G>C p.A1415P Missense 24/24 - 1
7-101892054-C-T c.4250C>T p.P1417L Missense 24/24 - 1
7-101892050-GC-G c.4251del p.E1418Rfs*67 Frameshift 24/24 - 1
7-101892050-G-GC c.4251dup p.E1418Rfs*133 Frameshift 24/24 - 1
7-101892057-A-C c.4253A>C p.E1418A Missense 24/24 - 1
7-101892059-G-T c.4255G>T p.D1419Y Missense 24/24 - 1
7-101892060-A-C c.4256A>C p.D1419A Missense 24/24 - 1
7-101892060-A-G c.4256A>G p.D1419G Missense 24/24 - 1
7-101892063-C-T c.4259C>T p.A1420V Missense 24/24 - 1
7-101892067-T-A c.4263T>A p.A1421= Synonymous 24/24 - 1
7-101892067-T-C c.4263T>C p.A1421= Synonymous 24/24 - 1
7-101892067-T-G c.4263T>G p.A1421= Synonymous 24/24 - 1
7-101892083-G-C c.4279G>C p.A1427P Missense 24/24 - 1
7-101892084-C-T c.4280C>T p.A1427V Missense 24/24 - 1
7-101892087-C-T c.4283C>T p.P1428L Missense 24/24 - 1
7-101892092-G-T c.4288G>T p.E1430* Nonsense 24/24 - 2
7-101892093-A-C c.4289A>C p.E1430A Missense 24/24 - 1
7-101892099-C-A c.4295C>A p.P1432H Missense 24/24 - 1
7-101892099-C-T c.4295C>T p.P1432L Missense 24/24 - 1
7-101892101-G-A c.4297G>A p.A1433T Missense 24/24 - 1
7-101892101-G-C c.4297G>C p.A1433P Missense 24/24 - 1
7-101892102-C-A c.4298C>A p.A1433E Missense 24/24 - 1
7-101892102-C-G c.4298C>G p.A1433G Missense 24/24 - 2
7-101892102-C-T c.4298C>T p.A1433V Missense 24/24 - 1
7-101892110-A-C c.4306A>C p.S1436R Missense 24/24 - 1
7-101892113-T-C c.4309T>C p.S1437P Missense 24/24 - 1
7-101892113-T-G c.4309T>G p.S1437A Missense 24/24 - 1
7-101892117-C-T c.4313C>T p.A1438V Missense 24/24 - 1
7-101892121-G-A c.4317G>A p.P1439= Synonymous 24/24 - 10
7-101892121-G-C c.4317G>C p.P1439= Synonymous 24/24 - 7
7-101892126-C-T c.4322C>T p.P1441L Missense 24/24 - 1
7-101892128-A-C c.4324A>C p.S1442R Missense 24/24 - 1
7-101892131-A-C c.4327A>C p.N1443H Missense 24/24 - 1
7-101892139-C-T c.4335C>T p.S1445= Synonymous 24/24 - 1
7-101892140-A-C c.4336A>C p.S1446R Missense 24/24 - 1
7-101892141-G-C c.4337G>C p.S1446T Missense 24/24 - 1
7-101892145-C-CT c.4341_4342insT p.S1448* Nonsense 24/24 - 1
7-101892132-ACAG-A c.4342_4344del p.S1448del InFrameDeletion 24/24 - 5
7-101892152-C-T c.4348C>T p.P1450S Missense 24/24 - 2
7-101892154-C-A c.4350C>A p.P1450= Synonymous 24/24 - 3
7-101892154-C-G c.4350C>G p.P1450= Synonymous 24/24 - 3
7-101892154-C-T c.4350C>T p.P1450= Synonymous 24/24 - 3
7-101892149-G-GC c.4351dup p.R1451Pfs*100 Frameshift 24/24 - 1
7-101892155-C-T c.4351C>T p.R1451C Missense 24/24 - 1
7-101892156-G-A c.4352G>A p.R1451H Missense 24/24 - 2
7-101892156-G-T c.4352G>T p.R1451L Missense 24/24 - 1
7-101892158-AG-CC c.4354_4355delinsCC p.R1452P Missense 24/24 - 1
7-101892159-G-T c.4355G>T p.R1452M Missense 24/24 - 2
7-101892166-GCTC-G c.4362_4364del p.S1454_S1455delinsR MultiAAMissense 24/24 - 2
7-101892168-C-A c.4364C>A p.S1455* Nonsense 24/24 - 1
7-101892168-C-T c.4364C>T p.S1455L Missense 24/24 - 2
7-101892169-G-A c.4365G>A p.S1455= Synonymous 24/24 - 1
7-101892169-G-C c.4365G>C p.S1455= Synonymous 24/24 - 1
7-101892169-G-T c.4365G>T p.S1455= Synonymous 24/24 - 1
7-101892174-A-C c.4370A>C p.Q1457P Missense 24/24 - 1
7-101892174-A-T c.4370A>T p.Q1457L Missense 24/24 - 1
7-101892177-G-A c.4373G>A p.S1458N Missense 24/24 - 1
7-101892177-G-T c.4373G>T p.S1458I Missense 24/24 - 1
7-101892179-C-T c.4375C>T p.L1459F Missense 24/24 - 1
7-101892177-GCCTTTTCGGCCT-G c.4376_4387del p.L1459_L1462del InFrameDeletion 24/24 - 2
7-101892184-C-T c.4380C>T p.F1460= Synonymous 24/24 - 6
7-101892186-G-A c.4382G>A p.G1461D Missense 24/24 - 2
7-101892186-GC-G c.4384del p.L1462Sfs*23 Frameshift 24/24 - 1
7-101892186-G-GC c.4384dup p.L1462Pfs*89 Frameshift 24/24 - 1
7-101892188-C-T c.4384C>T p.L1462F Missense 24/24 - 1
7-101892190-C-T c.4386C>T p.L1462= Synonymous 24/24 - 1
7-101892192-C-T c.4388C>T p.P1463L Missense 24/24 - 1
7-101892189-TC-T c.4389del p.E1464Rfs*21 Frameshift 24/24 - 1
7-101892193-C-A c.4389C>A p.P1463= Synonymous 24/24 - 1
7-101892193-C-G c.4389C>G p.P1463= Synonymous 24/24 - 1
7-101892193-C-T c.4389C>T p.P1463= Synonymous 24/24 - 1
7-101892194-G-A c.4390G>A p.E1464K Missense 24/24 - 2
7-101892195-A-C c.4391A>C p.E1464A Missense 24/24 - 2
7-101892201-C-T c.4397C>T p.A1466V Missense 24/24 - 2
7-101892203-G-A c.4399G>A p.G1467S Missense 24/24 - 1
7-101892205-C-A c.4401C>A p.G1467= Synonymous 24/24 - 1
7-101892205-C-T c.4401C>T p.G1467= Synonymous 24/24 - 2
7-101892206-G-A c.4402G>A p.A1468T Missense 24/24 - 1
7-101892209-C-A c.4405C>A p.R1469= Synonymous 24/24 - 1
7-101892209-C-G c.4405C>G p.R1469G Missense 24/24 - 1
7-101892211-G-A c.4407G>A p.R1469= Synonymous 24/24 - 1
7-101892211-G-C c.4407G>C p.R1469= Synonymous 24/24 - 1
7-101892211-G-T c.4407G>T p.R1469= Synonymous 24/24 - 1
7-101892210-G-A c.4406G>A p.R1469Q Missense 24/24 - 1
7-101892210-G-T c.4406G>T p.R1469L Missense 24/24 - 2
7-101892212-G-C c.4408G>C p.D1470H Missense 24/24 - 3
7-101892214-C-A c.4410C>A p.D1470E Missense 24/24 - 1
7-101892214-C-G c.4410C>G p.D1470E Missense 24/24 - 1
7-101892215-CT-C c.4411del p.S1471Rfs*14 Frameshift 24/24 - 1
7-101892218-C-T c.4414C>T p.R1472C Missense 24/24 - 1
7-101892219-G-A c.4415G>A p.R1472H Missense 24/24 - 5
7-101892219-GC-AA c.4415_4416delinsAA p.R1472Q Missense 24/24 - 1
7-101892220-C-A c.4416C>A p.R1472= Synonymous 24/24 - 1
7-101892220-C-G c.4416C>G p.R1472= Synonymous 24/24 - 1
7-101892220-C-T c.4416C>T p.R1472= Synonymous 24/24 - 2
7-101892223-AC-A c.4419del p.D1473Efs*12 Frameshift 24/24 - 1
7-101892227-C-T c.4423C>T p.P1475S Missense 24/24 - 1
7-101892228-C-T c.4424C>T p.P1475L Missense 24/24 - 1
7-101892229-C-A c.4425C>A p.P1475= Synonymous 24/24 - 2
7-101892229-C-G c.4425C>G p.P1475= Synonymous 24/24 - 2
7-101892230-C-T c.4426C>T p.L1476= Synonymous 24/24 - 2
7-101892232-G-A c.4428G>A p.L1476= Synonymous 24/24 - 1
7-101892232-G-C c.4428G>C p.L1476= Synonymous 24/24 - 1
7-101892232-G-T c.4428G>T p.L1476= Synonymous 24/24 - 3
7-101892233-C-A c.4429C>A p.R1477S Missense 24/24 - 2
7-101892233-C-T c.4429C>T p.R1477C Missense 24/24 - 1
7-101892234-G-A c.4430G>A p.R1477H Missense 24/24 - 1
7-101892237-A-G c.4433A>G p.K1478R Missense 24/24 - 3
7-101892244-G-A c.4440G>A p.K1480= Synonymous 24/24 - 1
7-101892245-G-T c.4441G>T p.A1481S Missense 24/24 - 2
7-101892247-C-A c.4443C>A p.A1481= Synonymous 24/24 - 1
7-101892248-G-A c.4444G>A p.A1482T Missense 24/24 - 2
7-101892249-C-T c.4445C>T p.A1482V Missense 24/24 - 2
7-101892250-G-A c.4446G>A p.A1482= Synonymous 24/24 - 2
7-101892253-C-A c.4449C>A p.N1483K Missense 24/24 - 2
7-101892253-C-G c.4449C>G p.N1483K Missense 24/24 - 1
7-101892259-AC-A c.4455del p.N1485Kfs*139 Frameshift 24/24 - 1
7-101892265-C-G c.4461C>G p.I1487M Missense 24/24 - 1
7-101892266-A-G c.4462A>G p.I1488V Missense 24/24 - 1
7-101892268-C-T c.4464C>T p.I1488= Synonymous 24/24 - 4
7-101892273-G-A c.4469G>A p.R1490H Missense 24/24 - 1
7-101892274-C-T c.4470C>T p.R1490= Synonymous 24/24 - 2
7-101892276-T-C c.4472T>C p.L1491P Missense 24/24 - 1
7-101892278-G-A c.4474G>A p.E1492K Missense 24/24 - 2
7-101892284-G-A c.4480G>A p.A1494T Missense 24/24 - 1
7-101892286-C-T c.4482C>T p.A1494= Synonymous 24/24 - 1
7-101892287-G-A c.4483G>A p.A1495T Missense 24/24 - 4
7-101892294-G-A c.4490G>A p.R1497Q Missense 24/24 - 5
7-101892298-G-A c.4494G>A p.E1498= Synonymous 24/24 - 1
7-101892299-G-T c.4495G>T p.E1499* Nonsense 24/24 - 1
7-101892301-A-G c.4497A>G p.E1499= Synonymous 24/24 - 2
7-101892302-C-G c.4498C>G p.P1500A Missense 24/24 - 1
7-101892307-C-T c.4503C>T p.I1501= Synonymous 24/24 - 1
7-101892310-A-C c.4506A>C p.E1502D Missense 24/24 - 1
7-101892310-A-T c.4506A>T p.E1502D Missense 24/24 - 1
7-101892316-G-T c.4512G>T p.E1504D Missense 24/24 - 2
7-101892319-C-T c.4515C>T p.F1505= Synonymous 24/24 - 2
7-101892328-C-T c.*6C>T - 3-UTRSNV 24/24 - 8
7-101892452-G-A c.*130G>A - 3-UTRSNV 24/24 - 1
7-101892833-C-T c.*511C>T - 3-UTRSNV 24/24 - 5
7-101895683-C-G c.*3361C>G - 3-UTRSNV 24/24 - 1
7-101895683-C-T c.*3361C>T - 3-UTRSNV 24/24 - 1
7-101895864-C-G c.*3542C>G - 3-UTRSNV 24/24 - 4
7-101895864-C-T c.*3542C>T - 3-UTRSNV 24/24 - 4
7-101896232-A-G c.*3910A>G - 3-UTRSNV 24/24 - 3
7-101896232-A-T c.*3910A>T - 3-UTRSNV 24/24 - 3
7-101896725-G-C c.*4403G>C - 3-UTRSNV 24/24 - 4
7-101896725-G-T c.*4403G>T - 3-UTRSNV 24/24 - 4
7-101897227-C-G c.*4905C>G - 3-UTRSNV 24/24 - 3
7-101897945-G-T c.*5623G>T - 3-UTRSNV 24/24 - 3
7-101897982-G-A c.*5660G>A - 3-UTRSNV 24/24 - 1
7-101898037-G-A c.*5715G>A - 3-UTRSNV 24/24 - 1
7-101898037-G-C c.*5715G>C - 3-UTRSNV 24/24 - 1
7-101898154-C-T c.*5832C>T - 3-UTRSNV 24/24 - 1
7-101899412-C-G c.*7090C>G - 3-UTRSNV 24/24 - 1
7-101899412-C-T c.*7090C>T - 3-UTRSNV 24/24 - 1
7-101899659-G-A c.*7337G>A - 3-UTRSNV 24/24 - 1
7-101899659-G-C c.*7337G>C - 3-UTRSNV 24/24 - 1
7-101900110-G-C c.*7788G>C - 3-UTRSNV 24/24 - 4
7-101900122-T-A c.*7800T>A - 3-UTRSNV 24/24 - 3
7-101900122-T-C c.*7800T>C - 3-UTRSNV 24/24 - 3
7-101900294-G-A c.*7972G>A - 3-UTRSNV 24/24 - 1
7-101901153-G-A c.*8831G>A - 3-UTRSNV 24/24 - 1