GPNMB

GPNMB glycoprotein nmb

Annotation transcript: NM_002510.3

752 unique variant annotations were identified in 407 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
7-23286464-G-A c.-13G>A - 5-UTRSNV 1/11 - 1
7-23286464-G-T c.-13G>T - 5-UTRSNV 1/11 - 1
7-23286477-A-T c.1A>T p.M1? Missense 1/11 - 1
7-23286478-T-A c.2T>A p.M1? Missense 1/11 - 1
7-23286479-G-A c.3G>A p.M1? Missense 1/11 - 1
7-23286481-A-G c.5A>G p.E2G Missense 1/11 - 1
7-23286486-C-T c.10C>T p.L4F Missense 1/11 - 1
7-23286484-GTC-G c.12_13del p.Y5Lfs*15 Frameshift 1/11 - 1
7-23286490-A-G c.14A>G p.Y5C Missense 1/11 - 1
7-23286491-C-A c.15C>A p.Y5* Nonsense 1/11 - 1
7-23286491-C-G c.15C>G p.Y5* Nonsense 1/11 - 1
7-23286491-C-T c.15C>T p.Y5= Synonymous 1/11 - 1
7-23286497-C-T c.21C>T p.F7= Synonymous 1/11 - 2
7-23286498-CTG-ATC c.22_24delinsATC p.L8I Missense 1/11 - 1
7-23286502-G-A c.26G>A p.G9E Missense 1/11 - 3
7-23286504-ATTT-A c.28_30del p.F10del InFrameDeletion 1/11 - 1
7-23286505-T-G c.29T>G p.F10C Missense 1/11 - 3
7-23286507-C-T c.31C>T p.L11= Synonymous 1/11 - 1
7-23286510-C-T c.34C>T p.L12F Missense 1/11 - 1
7-23286513-C-A c.37C>A p.L13M Missense 1/11 - 1
7-23286513-C-T c.37C>T p.L13= Synonymous 1/11 - 1
7-23286513-CT-GC c.37_38delinsGC p.L13A Missense 1/11 - 1
7-23286514-T-A c.38T>A p.L13Q Missense 1/11 - 1
7-23286516-G-A c.40G>A p.A14T Missense 1/11 - 1
7-23286519-G-A c.43G>A p.A15T Missense 1/11 - 1
7-23286525-T-A c.49T>A p.L17M Missense 1/11 - 1
7-23286525-T-C c.49T>C p.L17= Synonymous 1/11 - 4
7-23286529-C-T c.53C>T p.P18L Missense 1/11 - 7
7-23286534-G-C c.58G>C p.D20H Missense 1/11 - 1
7-23286535-A-G c.59A>G p.D20G Missense 1/11 - 1
7-23286537-G-A c.61G>A p.A21T Missense 1/11 - 3
7-23286540-G-A c.64G>A p.A22T Missense 1/11 - 5
7-23286540-GCC-AAG c.64_66delinsAAG p.A22K Missense 1/11 - 1
7-23286540-GCC-TAA c.64_66delinsTAA p.A22* Nonsense 1/11 - 1
7-23286540-GC-TT c.64_65delinsTT p.A22F Missense 1/11 - 1
7-23286541-C-A c.65C>A p.A22D Missense 1/11 - 1
7-23286546-C-T c.70C>T p.R24* Nonsense 1/11 - 3
7-23286547-G-A c.70+1G>A - IntronicSNV - 1/10 1
7-23286549-G-A c.70+3G>A - IntronicSNV - 1/10 1
7-23286614-A-G c.70+68A>G - IntronicSNV - 1/10 2
7-23286655-T-A c.70+109T>A - IntronicSNV - 1/10 1
7-23286655-T-G c.70+109T>G - IntronicSNV - 1/10 1
7-23292808-T-C c.71-118T>C - IntronicSNV - 1/10 3
7-23292931-C-A c.76C>A p.H26N Missense 2/11 - 2
7-23292934-G-A c.79G>A p.D27N Missense 2/11 - 1
7-23292935-A-G c.80A>G p.D27G Missense 2/11 - 1
7-23292939-G-A c.84G>A p.V28= Synonymous 2/11 - 1
7-23292939-G-C c.84G>C p.V28= Synonymous 2/11 - 1
7-23292939-G-T c.84G>T p.V28= Synonymous 2/11 - 2
7-23292940-C-A c.85C>A p.L29M Missense 2/11 - 1
7-23292941-T-A c.86T>A p.L29Q Missense 2/11 - 1
7-23292944-G-C c.89G>C p.G30A Missense 2/11 - 1
7-23292944-G-T c.89G>T p.G30V Missense 2/11 - 1
7-23292945-C-A c.90C>A p.G30= Synonymous 2/11 - 1
7-23292948-T-G c.93T>G p.N31K Missense 2/11 - 1
7-23292952-AG-CA c.97_98delinsCA p.R33Q Missense 2/11 - 1
7-23292953-G-A c.98G>A p.R33K Missense 2/11 - 1
7-23292956-C-T c.101C>T p.P34L Missense 2/11 - 1
7-23292957-T-A c.102T>A p.P34= Synonymous 2/11 - 1
7-23292957-T-C c.102T>C p.P34= Synonymous 2/11 - 1
7-23292957-T-G c.102T>G p.P34= Synonymous 2/11 - 1
7-23292955-CCTT-C c.103_105del p.S35del InFrameDeletion 2/11 - 1
7-23292959-C-T c.104C>T p.S35F Missense 2/11 - 1
7-23292961-GC-TT c.106_107delinsTT p.A36F Missense 2/11 - 1
7-23292961-G-T c.106G>T p.A36S Missense 2/11 - 1
7-23292966-C-A c.111C>A p.Y37* Nonsense 2/11 - 1
7-23292967-A-T c.112A>T p.M38L Missense 2/11 - 2
7-23292970-AGG-CAT c.115_117delinsCAT p.R39H Missense 2/11 - 1
7-23292971-G-C c.116G>C p.R39T Missense 2/11 - 2
7-23292973-G-A c.118G>A p.E40K Missense 2/11 - 1
7-23292973-G-C c.118G>C p.E40Q Missense 2/11 - 1
7-23292976-CA-GC c.121_122delinsGC p.H41A Missense 2/11 - 1
7-23292978-C-A c.123C>A p.H41Q Missense 2/11 - 1
7-23292978-C-G c.123C>G p.H41Q Missense 2/11 - 1
7-23292980-A-C c.125A>C p.N42T Missense 2/11 - 1
7-23292988-A-C c.133A>C p.N45H Missense 2/11 - 4
7-23292988-A-G c.133A>G p.N45D Missense 2/11 - 1
7-23292990-T-C c.135T>C p.N45= Synonymous 2/11 - 1
7-23292995-G-A c.140G>A p.W47* Nonsense 2/11 - 1
7-23292995-G-T c.140G>T p.W47L Missense 2/11 - 4
7-23292996-G-A c.141G>A p.W47* Nonsense 2/11 - 1
7-23292998-C-T c.143C>T p.S48F Missense 2/11 - 1
7-23292999-T-A c.144T>A p.S48= Synonymous 2/11 - 1
7-23292999-T-C c.144T>C p.S48= Synonymous 2/11 - 1
7-23292999-T-G c.144T>G p.S48= Synonymous 2/11 - 2
7-23293000-T-A c.145T>A p.S49T Missense 2/11 - 1
7-23293001-C-A c.146C>A p.S49Y Missense 2/11 - 1
7-23293001-C-T c.146C>T p.S49F Missense 2/11 - 1
7-23293006-G-A c.151G>A p.E51K Missense 2/11 - 1
7-23293008-A-T c.153A>T p.E51D Missense 2/11 - 1
7-23293012-G-T c.157G>T p.D53Y Missense 2/11 - 1
7-23293021-G-A c.166G>A p.E56K Missense 2/11 - 1
7-23293026-A-C c.171A>C p.K57N Missense 2/11 - 1
7-23293026-A-T c.171A>T p.K57N Missense 2/11 - 1
7-23293035-A-G c.180A>G p.P60= Synonymous 2/11 - 1
7-23293036-G-C c.181G>C p.V61L Missense 2/11 - 1
7-23293036-G-T c.181G>T p.V61L Missense 2/11 - 2
7-23293039-T-C c.184T>C p.W62R Missense 2/11 - 1
7-23293046-G-A c.191G>A p.R64Q Missense 2/11 - 4
7-23293046-G-C c.191G>C p.R64P Missense 2/11 - 1
7-23293049-G-A c.194G>A p.G65E Missense 2/11 - 3
7-23293051-G-C c.196G>C p.D66H Missense 2/11 - 1
7-23293054-A-G c.199A>G p.M67V Missense 2/11 - 1
7-23293056-G-A c.201G>A p.M67I Missense 2/11 - 1
7-23293058-G-T c.203G>T p.R68M Missense 2/11 - 1
7-23293062-G-A c.207G>A p.W69* Nonsense 2/11 - 1
7-23293062-G-C c.207G>C p.W69C Missense 2/11 - 1
7-23293062-G-T c.207G>T p.W69C Missense 2/11 - 1
7-23293067-A-C c.212A>C p.N71T Missense 2/11 - 1
7-23293070-C-A c.215C>A p.S72Y Missense 2/11 - 1
7-23293070-CC-AA c.215_216delinsAA p.S72* Nonsense 2/11 - 1
7-23293072-T-A c.217T>A p.W73R Missense 2/11 - 1
7-23293072-T-C c.217T>C p.W73R Missense 2/11 - 1
7-23293074-G-A c.219G>A p.W73* Nonsense 2/11 - 1
7-23293075-A-ACAATCACTTTGTCATATTTTATTTGATGCTAGTGGTC c.220_221insCAATCACTTTGTCATATTTTATTTGATGCTAGTGGTC p.K74Tfs*9 Frameshift 2/11 - 1
7-23293079-G-C c.223+1G>C - IntronicSNV - 2/10 1
7-23293098-C-A c.223+20C>A - IntronicSNV - 2/10 6
7-23293746-A-G c.224-42A>G - IntronicSNV - 2/10 35
7-23293790-G-T c.226G>T p.G76C Missense 3/11 - 2
7-23293791-G-T c.227G>T p.G76V Missense 3/11 - 1
7-23293793-C-T c.229C>T p.R77C Missense 3/11 - 2
7-23293794-G-A c.230G>A p.R77H Missense 3/11 - 2
7-23293794-G-T c.230G>T p.R77L Missense 3/11 - 1
7-23293796-G-T c.232G>T p.V78L Missense 3/11 - 1
7-23293803-C-T c.239C>T p.A80V Missense 3/11 - 6
7-23293804-G-A c.240G>A p.A80= Synonymous 3/11 - 2
7-23293804-G-C c.240G>C p.A80= Synonymous 3/11 - 1
7-23293804-G-T c.240G>T p.A80= Synonymous 3/11 - 1
7-23293816-T-C c.252T>C p.S84= Synonymous 3/11 - 4
7-23293819-C-T c.255C>T p.D85= Synonymous 3/11 - 2
7-23293820-T-G c.256T>G p.S86A Missense 3/11 - 1
7-23293821-C-T c.257C>T p.S86L Missense 3/11 - 3
7-23293823-C-A c.259C>A p.P87T Missense 3/11 - 1
7-23293831-C-T c.267C>T p.L89= Synonymous 3/11 - 1
7-23293832-G-C c.268G>C p.V90L Missense 3/11 - 2
7-23293835-G-T c.271G>T p.G91C Missense 3/11 - 1
7-23293839-C-A c.275C>A p.S92* Nonsense 3/11 - 3
7-23293839-C-G c.275C>G p.S92* Nonsense 3/11 - 1
7-23293839-C-T c.275C>T p.S92L Missense 3/11 - 1
7-23293841-AAT-CAA c.277_279delinsCAA p.N93Q Missense 3/11 - 1
7-23293854-C-T c.290C>T p.A97V Missense 3/11 - 2
7-23293858-GA-G c.296del p.N99Tfs*2 Frameshift 3/11 - 1
7-23293862-C-G c.298C>G p.L100V Missense 3/11 - 1
7-23293862-C-T c.298C>T p.L100= Synonymous 3/11 - 1
7-23293864-G-A c.300G>A p.L100= Synonymous 3/11 - 1
7-23293864-G-C c.300G>C p.L100= Synonymous 3/11 - 1
7-23293864-G-T c.300G>T p.L100= Synonymous 3/11 - 2
7-23293866-TA-GC c.302_303delinsGC p.I101S Missense 3/11 - 1
7-23293868-T-C c.304T>C p.F102L Missense 3/11 - 1
7-23293870-C-A c.306C>A p.F102L Missense 3/11 - 1
7-23293870-C-G c.306C>G p.F102L Missense 3/11 - 1
7-23293870-C-T c.306C>T p.F102= Synonymous 3/11 - 5
7-23293878-G-A c.314G>A p.C105Y Missense 3/11 - 1
7-23293879-C-T c.315C>T p.C105= Synonymous 3/11 - 1
7-23293873-TAGATGCCAAAAGGA-T c.319_332del p.K107Wfs*6 Frameshift 3/11 - 4
7-23293889-G-A c.325G>A p.D109N Missense 3/11 - 1
7-23293892-G-T c.328G>T p.A110S Missense 3/11 - 1
7-23293893-C-A c.329C>A p.A110D Missense 3/11 - 3
7-23293893-CC-AG c.329_330delinsAG p.A110E Missense 3/11 - 1
7-23293893-C-T c.329C>T p.A110V Missense 3/11 - 5
7-23293896-A-C c.332A>C p.N111T Missense 3/11 - 1
7-23293897-T-C c.333T>C p.N111= Synonymous 3/11 - 1
7-23293898-G-A c.334G>A p.G112S Missense 3/11 - 1
7-23293899-G-A c.335G>A p.G112D Missense 3/11 - 1
7-23293900-C-A c.336C>A p.G112= Synonymous 3/11 - 2
7-23293902-A-G c.338A>G p.N113S Missense 3/11 - 3
7-23293903-C-T c.339C>T p.N113= Synonymous 3/11 - 2
7-23293906-A-C c.342A>C p.I114= Synonymous 3/11 - 1
7-23293906-A-T c.342A>T p.I114= Synonymous 3/11 - 1
7-23293906-AGTCTAT-A c.344_349del p.V115_Y116del InFrameDeletion 3/11 - 1
7-23293908-T-A c.344T>A p.V115D Missense 3/11 - 1
7-23293909-C-A c.345C>A p.V115= Synonymous 3/11 - 1
7-23293909-C-G c.345C>G p.V115= Synonymous 3/11 - 1
7-23293909-C-T c.345C>T p.V115= Synonymous 3/11 - 2
7-23293918-G-C c.354G>C p.K118N Missense 3/11 - 1
7-23293918-G-T c.354G>T p.K118N Missense 3/11 - 4
7-23293919-A-G c.355A>G p.N119D Missense 3/11 - 1
7-23293920-A-C c.356A>C p.N119T Missense 3/11 - 1
7-23293923-G-A c.359G>A p.C120Y Missense 3/11 - 1
7-23293925-AG-CA c.361_362delinsCA p.R121Q Missense 3/11 - 1
7-23293931-G-T c.367G>T p.E123* Nonsense 3/11 - 1
7-23293932-G-A c.367+1G>A - IntronicSNV - 3/10 1
7-23293933-T-C c.367+2T>C - IntronicSNV - 3/10 1
7-23293933-T-G c.367+2T>G - IntronicSNV - 3/10 1
7-23294042-C-T c.367+111C>T - IntronicSNV - 3/10 1
7-23294144-T-C c.367+213T>C - IntronicSNV - 3/10 1
7-23296431-A-T c.368-80A>T - IntronicSNV - 3/10 2
7-23296513-G-A c.370G>A p.A124T Missense 4/11 - 1
7-23296519-T-A c.376T>A p.L126I Missense 4/11 - 1
7-23296520-T-A c.377T>A p.L126* Nonsense 4/11 - 1
7-23296521-A-C c.378A>C p.L126F Missense 4/11 - 1
7-23296521-A-T c.378A>T p.L126F Missense 4/11 - 1
7-23296523-C-T c.380C>T p.S127F Missense 4/11 - 1
7-23296525-G-A c.382G>A p.A128T Missense 4/11 - 1
7-23296525-G-T c.382G>T p.A128S Missense 4/11 - 2
7-23296530-ATCCGTATGTTT-A c.387_397del p.D129Efs*11 Frameshift 4/11 - 1
7-23296531-C-T c.388C>T p.P130S Missense 4/11 - 1
7-23296532-C-T c.389C>T p.P130L Missense 4/11 - 1
7-23296533-G-A c.390G>A p.P130= Synonymous 4/11 - 17
7-23296533-G-C c.390G>C p.P130= Synonymous 4/11 - 4
7-23296533-G-T c.390G>T p.P130= Synonymous 4/11 - 4
7-23296536-T-G c.393T>G p.Y131* Nonsense 4/11 - 3
7-23296542-C-A c.399C>A p.Y133* Nonsense 4/11 - 1
7-23296542-C-G c.399C>G p.Y133* Nonsense 4/11 - 1
7-23296543-AAC-CAA c.400_402delinsCAA p.N134Q Missense 4/11 - 1
7-23296545-C-T c.402C>T p.N134= Synonymous 4/11 - 1
7-23296548-G-A c.405G>A p.W135* Nonsense 4/11 - 1
7-23296549-A-G c.406A>G p.T136A Missense 4/11 - 1
7-23296550-CA-TG c.407_408inv p.T136M Missense 4/11 - 1
7-23296555-T-C c.412T>C p.W138R Missense 4/11 - 1
7-23296556-G-A c.413G>A p.W138* Nonsense 4/11 - 2
7-23296558-T-C c.415T>C p.S139P Missense 4/11 - 1
7-23296559-C-T c.416C>T p.S139L Missense 4/11 - 1
7-23296563-G-C c.420G>C p.E140D Missense 4/11 - 1
7-23296563-G-T c.420G>T p.E140D Missense 4/11 - 1
7-23296567-AG-TT c.424_425delinsTT p.S142F Missense 4/11 - 1
7-23296570-G-A c.427G>A p.D143N Missense 4/11 - 1
7-23296572-C-G c.429C>G p.D143E Missense 4/11 - 2
7-23296572-C-T c.429C>T p.D143= Synonymous 4/11 - 4
7-23296573-G-A c.430G>A p.G144R Missense 4/11 - 1
7-23296573-G-C c.430G>C p.G144R Missense 4/11 - 1
7-23296572-CG-C c.433del p.E145Kfs*48 Frameshift 4/11 - 1
7-23296579-AAT-CAA c.436_438delinsCAA p.N146Q Missense 4/11 - 1
7-23296585-A-T c.442A>T p.T148S Missense 4/11 - 1
7-23296587-C-A c.444C>A p.T148= Synonymous 4/11 - 1
7-23296587-C-G c.444C>G p.T148= Synonymous 4/11 - 1
7-23296587-C-T c.444C>T p.T148= Synonymous 4/11 - 1
7-23296588-G-A c.445G>A p.G149S Missense 4/11 - 3
7-23296589-G-T c.446G>T p.G149V Missense 4/11 - 1
7-23296594-AG-CT c.451_452inv p.S151L Missense 4/11 - 1
7-23296595-G-A c.452G>A p.S151N Missense 4/11 - 1
7-23296594-A-C c.451A>C p.S151R Missense 4/11 - 1
7-23296600-C-A c.457C>A p.H153N Missense 4/11 - 1
7-23296603-A-G c.460A>G p.N154D Missense 4/11 - 1
7-23296605-C-T c.462C>T p.N154= Synonymous 4/11 - 1
7-23296606-G-A c.463G>A p.V155I Missense 4/11 - 4
7-23296612-C-T c.469C>T p.P157S Missense 4/11 - 2
7-23296615-G-A c.472G>A p.D158N Missense 4/11 - 4
7-23296615-G-C c.472G>C p.D158H Missense 4/11 - 2
7-23296618-G-T c.475G>T p.G159W Missense 4/11 - 1
7-23296619-G-A c.476G>A p.G159E Missense 4/11 - 1
7-23296619-G-C c.476G>C p.G159A Missense 4/11 - 1
7-23296619-G-T c.476G>T p.G159V Missense 4/11 - 2
7-23296629-T-C c.486T>C p.F162= Synonymous 4/11 - 1
7-23296630-C-T c.487C>T p.P163S Missense 4/11 - 3
7-23296631-C-T c.488C>T p.P163L Missense 4/11 - 1
7-23296637-A-C c.494A>C p.H165P Missense 4/11 - 1
7-23296641-C-T c.498C>T p.P166= Synonymous 4/11 - 2
7-23296642-G-A c.499G>A p.G167R Missense 4/11 - 6
7-23296642-G-T c.499G>T p.G167* Nonsense 4/11 - 1
7-23296645-T-C c.502T>C p.W168R Missense 4/11 - 1
7-23296646-G-C c.503G>C p.W168S Missense 4/11 - 2
7-23296647-G-C c.504G>C p.W168C Missense 4/11 - 1
7-23296647-G-T c.504G>T p.W168C Missense 4/11 - 2
7-23296649-G-A c.506G>A p.R169K Missense 4/11 - 1
7-23296651-AG-CA c.508_509delinsCA p.R170Q Missense 4/11 - 1
7-23296651-A-T c.508A>T p.R170* Nonsense 4/11 - 1
7-23296653-A-C c.510A>C p.R170S Missense 4/11 - 1
7-23296653-A-T c.510A>T p.R170S Missense 4/11 - 1
7-23296654-T-C c.511T>C p.W171R Missense 4/11 - 1
7-23296663-A-G c.520A>G p.I174V Missense 4/11 - 1
7-23296665-C-G c.522C>G p.I174M Missense 4/11 - 8
7-23296669-G-A c.526G>A p.V176I Missense 4/11 - 1
7-23296672-T-C c.529T>C p.F177L Missense 4/11 - 1
7-23296675-C-A c.532C>A p.H178N Missense 4/11 - 2
7-23296679-C-T c.536C>T p.T179I Missense 4/11 - 2
7-23296682-T-C c.539T>C p.L180P Missense 4/11 - 1
7-23296684-G-A c.541G>A p.G181S Missense 4/11 - 1
7-23296685-G-A c.541+1G>A - IntronicSNV - 4/10 2
7-23296685-G-T c.541+1G>T - IntronicSNV - 4/10 1
7-23296688-G-T c.541+4G>T - IntronicSNV - 4/10 1
7-23296689-G-T c.541+5G>T - IntronicSNV - 4/10 1
7-23296703-C-T c.541+19C>T - IntronicSNV - 4/10 1
7-23296715-T-C c.541+31T>C - IntronicSNV - 4/10 1
7-23296741-T-C c.541+57T>C - IntronicSNV - 4/10 1
7-23296753-C-T c.541+69C>T - IntronicSNV - 4/10 1
7-23296780-G-C c.541+96G>C - IntronicSNV - 4/10 1
7-23296796-C-A c.541+112C>A - IntronicSNV - 4/10 1
7-23296941-T-A c.541+257T>A - IntronicSNV - 4/10 1
7-23297588-T-A c.541+904T>A - IntronicSNV - 4/10 1
7-23297643-A-G c.541+959A>G - IntronicSNV - 4/10 1
7-23298910-C-T c.542-689C>T - IntronicSNV - 4/10 1
7-23299597-A-G c.542-2A>G - IntronicSNV - 4/10 1
7-23299599-G-A c.542G>A p.G181D Missense 5/11 - 1
7-23299600-T-A c.543T>A p.G181= Synonymous 5/11 - 1
7-23299600-T-C c.543T>C p.G181= Synonymous 5/11 - 1
7-23299600-T-G c.543T>G p.G181= Synonymous 5/11 - 1
7-23299603-G-T c.546G>T p.Q182H Missense 5/11 - 2
7-23299607-T-G c.550T>G p.F184V Missense 5/11 - 1
7-23299609-C-T c.552C>T p.F184= Synonymous 5/11 - 1
7-23299613-A-C c.556A>C p.K186Q Missense 5/11 - 1
7-23299618-G-C c.561G>C p.L187F Missense 5/11 - 1
7-23299618-G-T c.561G>T p.L187F Missense 5/11 - 1
7-23299622-CGA-TGG c.565_567delinsTGG p.R189W Missense 5/11 - 2
7-23299622-CGA-TGT c.565_567delinsTGT p.R189C Missense 5/11 - 1
7-23299622-C-T c.565C>T p.R189* Nonsense 5/11 - 11
7-23299623-G-A c.566G>A p.R189Q Missense 5/11 - 2
7-23299629-CA-AT c.572_573delinsAT p.S191Y Missense 5/11 - 2
7-23299630-A-C c.573A>C p.S191= Synonymous 5/11 - 1
7-23299630-A-G c.573A>G p.S191= Synonymous 5/11 - 1
7-23299630-A-T c.573A>T p.S191= Synonymous 5/11 - 1
7-23299637-G-A c.580G>A p.V194I Missense 5/11 - 1
7-23299641-C-G c.584C>G p.S195C Missense 5/11 - 3
7-23299646-A-C c.589A>C p.N197H Missense 5/11 - 3
7-23299646-A-G c.589A>G p.N197D Missense 5/11 - 3
7-23299646-A-T c.589A>T p.N197Y Missense 5/11 - 2
7-23299648-C-A c.591C>A p.N197K Missense 5/11 - 2
7-23299648-C-G c.591C>G p.N197K Missense 5/11 - 9
7-23299648-C-T c.591C>T p.N197= Synonymous 5/11 - 3
7-23299649-A-G c.592A>G p.T198A Missense 5/11 - 1
7-23299652-G-A c.595G>A p.A199T Missense 5/11 - 1
7-23299654-C-T c.597C>T p.A199= Synonymous 5/11 - 1
7-23299655-AAT-CAA c.598_600delinsCAA p.N200Q Missense 5/11 - 1
7-23299655-A-C c.598A>C p.N200H Missense 5/11 - 1
7-23299661-A-G c.604A>G p.T202A Missense 5/11 - 1
7-23299667-G-A c.610G>A p.G204R Missense 5/11 - 2
7-23299669-G-T c.612G>T p.G204= Synonymous 5/11 - 1
7-23299670-C-T c.613C>T p.P205S Missense 5/11 - 1
7-23299671-C-T c.614C>T p.P205L Missense 5/11 - 1
7-23299675-A-G c.618A>G p.Q206= Synonymous 5/11 - 1
7-23299684-A-C c.627A>C p.E209D Missense 5/11 - 1
7-23299684-A-T c.627A>T p.E209D Missense 5/11 - 2
7-23299691-G-A c.634G>A p.V212I Missense 5/11 - 1
7-23299696-C-G c.639C>G p.Y213* Nonsense 5/11 - 1
7-23299697-A-G c.640A>G p.R214G Missense 5/11 - 1
7-23299700-A-C c.643A>C p.R215= Synonymous 5/11 - 1
7-23299702-A-G c.645A>G p.R215= Synonymous 5/11 - 1
7-23299707-G-A c.650G>A p.G217E Missense 5/11 - 1
7-23299709-C-A c.652C>A p.R218= Synonymous 5/11 - 2
7-23299711-G-A c.654G>A p.R218= Synonymous 5/11 - 2
7-23299711-G-C c.654G>C p.R218= Synonymous 5/11 - 2
7-23299710-G-C c.653G>C p.R218P Missense 5/11 - 3
7-23299711-G-T c.654G>T p.R218= Synonymous 5/11 - 3
7-23299712-G-A c.655G>A p.A219T Missense 5/11 - 1
7-23299713-C-T c.656C>T p.A219V Missense 5/11 - 2
7-23299714-A-G c.657A>G p.A219= Synonymous 5/11 - 1
7-23299715-T-G c.658T>G p.Y220D Missense 5/11 - 1
7-23299717-T-G c.660T>G p.Y220* Nonsense 5/11 - 4
7-23299721-C-T c.664C>T p.P222S Missense 5/11 - 1
7-23299722-C-T c.665C>T p.P222L Missense 5/11 - 4
7-23299726-C-A c.669C>A p.I223= Synonymous 5/11 - 1
7-23299726-C-T c.669C>T p.I223= Synonymous 5/11 - 2
7-23299727-G-A c.670G>A p.A224T Missense 5/11 - 2
7-23299727-G-C c.670G>C p.A224P Missense 5/11 - 2
7-23299730-C-T c.673C>T p.Q225* Nonsense 5/11 - 1
7-23299732-A-C c.675A>C p.Q225H Missense 5/11 - 1
7-23299733-G-A c.676G>A p.V226M Missense 5/11 - 1
7-23299735-G-A c.678G>A p.V226= Synonymous 5/11 - 1
7-23299735-G-C c.678G>C p.V226= Synonymous 5/11 - 1
7-23299735-G-T c.678G>T p.V226= Synonymous 5/11 - 1
7-23299736-A-G c.679A>G p.K227E Missense 5/11 - 2
7-23299738-A-G c.681A>G p.K227= Synonymous 5/11 - 1
7-23299740-A-G c.683A>G p.D228G Missense 5/11 - 1
7-23299741-T-A c.684T>A p.D228E Missense 5/11 - 3
7-23299741-T-G c.684T>G p.D228E Missense 5/11 - 3
7-23299742-G-T c.685G>T p.V229L Missense 5/11 - 1
7-23299746-A-G c.689A>G p.Y230C Missense 5/11 - 1
7-23299746-A-T c.689A>T p.Y230F Missense 5/11 - 3
7-23299747-C-T c.690C>T p.Y230= Synonymous 5/11 - 3
7-23299754-A-G c.697A>G p.T233A Missense 5/11 - 2
7-23299755-C-A c.698C>A p.T233K Missense 5/11 - 1
7-23299755-C-G c.698C>G p.T233R Missense 5/11 - 1
7-23299757-G-A c.700G>A p.D234N Missense 5/11 - 1
7-23299757-GGTGAGTGGT-G c.700+5_700+13del - IntronicDeletion - 5/10 1
7-23299762-G-T c.700+5G>T - IntronicSNV - 5/10 1
7-23300049-A-C c.701-26A>C - IntronicSNV - 5/10 10
7-23300049-A-T c.701-26A>T - IntronicSNV - 5/10 10
7-23300073-A-C c.701-2A>C - IntronicSNV - 5/10 1
7-23300081-T-G c.707T>G p.I236S Missense 6/11 - 1
7-23300084-C-T c.710C>T p.P237L Missense 6/11 - 1
7-23300086-G-T c.712G>T p.V238L Missense 6/11 - 1
7-23300090-T-C c.716T>C p.F239S Missense 6/11 - 2
7-23300090-TTG-T c.719_720del p.V240Dfs*24 Frameshift 6/11 - 1
7-23300099-T-C c.725T>C p.M242T Missense 6/11 - 1
7-23300103-C-G c.729C>G p.F243L Missense 6/11 - 1
7-23300102-T-C c.728T>C p.F243S Missense 6/11 - 1
7-23300104-C-T c.730C>T p.Q244* Nonsense 6/11 - 1
7-23300112-C-T c.738C>T p.N246= Synonymous 6/11 - 2
7-23300116-C-A c.742C>A p.R248= Synonymous 6/11 - 2
7-23300116-C-T c.742C>T p.R248* Nonsense 6/11 - 3
7-23300118-A-C c.744A>C p.R248= Synonymous 6/11 - 1
7-23300118-A-G c.744A>G p.R248= Synonymous 6/11 - 1
7-23300118-A-T c.744A>T p.R248= Synonymous 6/11 - 1
7-23300119-AAT-CAA c.745_747delinsCAA p.N249Q Missense 6/11 - 1
7-23300122-T-C c.748T>C p.S250P Missense 6/11 - 1
7-23300123-C-A c.749C>A p.S250* Nonsense 6/11 - 1
7-23300123-C-T c.749C>T p.S250L Missense 6/11 - 1
7-23300127-C-A c.753C>A p.S251= Synonymous 6/11 - 1
7-23300127-C-G c.753C>G p.S251= Synonymous 6/11 - 1
7-23300127-C-T c.753C>T p.S251= Synonymous 6/11 - 5
7-23300129-A-G c.755A>G p.D252G Missense 6/11 - 1
7-23300131-G-A c.757G>A p.E253K Missense 6/11 - 1
7-23300149-C-T c.775C>T p.L259F Missense 6/11 - 2
7-23300151-C-A c.777C>A p.L259= Synonymous 6/11 - 1
7-23300151-C-G c.777C>G p.L259= Synonymous 6/11 - 1
7-23300151-C-T c.777C>T p.L259= Synonymous 6/11 - 1
7-23300152-C-T c.778C>T p.P260S Missense 6/11 - 5
7-23300153-C-T c.779C>T p.P260L Missense 6/11 - 10
7-23300154-C-T c.780C>T p.P260= Synonymous 6/11 - 1
7-23300158-A-G c.784A>G p.M262V Missense 6/11 - 1
7-23300159-T-A c.785T>A p.M262K Missense 6/11 - 1
7-23300160-G-T c.786G>T p.M262I Missense 6/11 - 1
7-23300162-T-C c.788T>C p.F263S Missense 6/11 - 2
7-23300164-G-A c.790G>A p.D264N Missense 6/11 - 2
7-23300169-C-A c.795C>A p.V265= Synonymous 6/11 - 1
7-23300169-C-G c.795C>G p.V265= Synonymous 6/11 - 2
7-23300169-C-T c.795C>T p.V265= Synonymous 6/11 - 1
7-23300182-C-T c.808C>T p.P270S Missense 6/11 - 1
7-23300184-T-A c.810T>A p.P270= Synonymous 6/11 - 1
7-23300188-C-G c.814C>G p.H272D Missense 6/11 - 1
7-23300189-A-G c.815A>G p.H272R Missense 6/11 - 1
7-23300191-T-C c.817T>C p.F273L Missense 6/11 - 1
7-23300193-C-A c.819C>A p.F273L Missense 6/11 - 1
7-23300193-C-G c.819C>G p.F273L Missense 6/11 - 1
7-23300194-C-A c.820C>A p.L274I Missense 6/11 - 1
7-23300196-C-G c.822C>G p.L274= Synonymous 6/11 - 1
7-23300197-AAT-CAA c.823_825delinsCAA p.N275Q Missense 6/11 - 1
7-23300199-T-C c.825T>C p.N275= Synonymous 6/11 - 1
7-23300200-T-A c.826T>A p.Y276N Missense 6/11 - 1
7-23300201-A-G c.827A>G p.Y276C Missense 6/11 - 2
7-23300202-T-A c.828T>A p.Y276* Nonsense 6/11 - 1
7-23300202-T-G c.828T>G p.Y276* Nonsense 6/11 - 2
7-23300204-C-T c.830C>T p.S277F Missense 6/11 - 1
7-23300206-A-T c.832A>T p.T278S Missense 6/11 - 1
7-23300207-C-G c.833C>G p.T278S Missense 6/11 - 1
7-23300215-T-C c.841T>C p.Y281H Missense 6/11 - 1
7-23300216-A-G c.842A>G p.Y281C Missense 6/11 - 2
7-23300220-G-T c.846G>T p.K282N Missense 6/11 - 1
7-23300222-G-A c.848G>A p.W283* Nonsense 6/11 - 2
7-23300223-G-A c.849G>A p.W283* Nonsense 6/11 - 1
7-23300226-C-T c.852C>T p.S284= Synonymous 6/11 - 1
7-23300227-T-C c.853T>C p.F285L Missense 6/11 - 2
7-23300229-C-A c.855C>A p.F285L Missense 6/11 - 1
7-23300229-C-G c.855C>G p.F285L Missense 6/11 - 1
7-23300230-G-A c.856G>A p.G286R Missense 6/11 - 3
7-23300230-G-C c.856G>C p.G286R Missense 6/11 - 4
7-23300230-G-T c.856G>T p.G286W Missense 6/11 - 1
7-23300233-G-T c.859G>T p.D287Y Missense 6/11 - 1
7-23300242-G-A c.868G>A p.G290S Missense 6/11 - 1
7-23300242-G-C c.868G>C p.G290R Missense 6/11 - 1
7-23300244-C-T c.870C>T p.G290= Synonymous 6/11 - 1
7-23300245-C-T c.871C>T p.L291= Synonymous 6/11 - 1
7-23300248-T-A c.874T>A p.F292I Missense 6/11 - 1
7-23300248-T-C c.874T>C p.F292L Missense 6/11 - 2
7-23300250-T-A c.876T>A p.F292L Missense 6/11 - 2
7-23300250-T-G c.876T>G p.F292L Missense 6/11 - 4
7-23300245-CTGTT-C c.877_880del p.V293Pfs*6 Frameshift 6/11 - 2
7-23300255-C-T c.881C>T p.S294F Missense 6/11 - 6
7-23300256-C-T c.882C>T p.S294= Synonymous 6/11 - 1
7-23300258-C-T c.884C>T p.T295I Missense 6/11 - 1
7-23300260-AAT-CAA c.886_888delinsCAA p.N296Q Missense 6/11 - 1
7-23300261-A-G c.887A>G p.N296S Missense 6/11 - 1
7-23300269-G-T c.895G>T p.V299L Missense 6/11 - 1
7-23300270-T-C c.896T>C p.V299A Missense 6/11 - 1
7-23300272-A-G c.898A>G p.N300D Missense 6/11 - 5
7-23300274-T-C c.900T>C p.N300= Synonymous 6/11 - 1
7-23300279-C-T c.905C>T p.T302M Missense 6/11 - 2
7-23300287-C-G c.913C>G p.L305V Missense 6/11 - 1
7-23300290-AAT-CAA c.916_918delinsCAA p.N306Q Missense 6/11 - 1
7-23300296-A-G c.922A>G p.T308A Missense 6/11 - 4
7-23300296-A-T c.922A>T p.T308S Missense 6/11 - 1
7-23300297-C-A c.923C>A p.T308N Missense 6/11 - 1
7-23300297-CC-TG c.923_924delinsTG p.T308M Missense 6/11 - 1
7-23300297-C-G c.923C>G p.T308S Missense 6/11 - 2
7-23300298-C-T c.924C>T p.T308= Synonymous 6/11 - 1
7-23300301-C-T c.927C>T p.F309= Synonymous 6/11 - 1
7-23300305-C-A c.931C>A p.L311I Missense 6/11 - 1
7-23300308-AAC-CAA c.934_936delinsCAA p.N312Q Missense 6/11 - 1
7-23300309-A-G c.935A>G p.N312S Missense 6/11 - 1
7-23300311-C-G c.937C>G p.L313V Missense 6/11 - 1
7-23300312-T-C c.938T>C p.L313P Missense 6/11 - 2
7-23300314-A-T c.940A>T p.T314S Missense 6/11 - 1
7-23300315-C-T c.941C>T p.T314I Missense 6/11 - 1
7-23300315-CTG-C c.944_945del p.V315Efs*29 Frameshift 6/11 - 1
7-23300324-C-A c.950C>A p.A317D Missense 6/11 - 2
7-23300329-G-T c.955G>T p.A319S Missense 6/11 - 1
7-23300330-C-G c.956C>G p.A319G Missense 6/11 - 2
7-23300333-C-T c.959C>T p.P320L Missense 6/11 - 1
7-23300337-A-C c.963A>C p.G321= Synonymous 6/11 - 1
7-23300338-C-A c.964C>A p.P322T Missense 6/11 - 1
7-23300339-C-A c.965C>A p.P322H Missense 6/11 - 1
7-23300341-T-A c.967T>A p.C323S Missense 6/11 - 1
7-23300342-G-C c.968G>C p.C323S Missense 6/11 - 1
7-23300343-T-C c.969T>C p.C323= Synonymous 6/11 - 1
7-23300345-C-A c.971C>A p.P324Q Missense 6/11 - 2
7-23300345-C-T c.971C>T p.P324L Missense 6/11 - 7
7-23300347-C-A c.973C>A p.P325T Missense 6/11 - 1
7-23300348-C-A c.974C>A p.P325Q Missense 6/11 - 1
7-23300350-C-T c.976C>T p.P326S Missense 6/11 - 1
7-23300351-C-T c.977C>T p.P326L Missense 6/11 - 3
7-23300352-G-A c.978G>A p.P326= Synonymous 6/11 - 1
7-23300355-A-C c.981A>C p.P327= Synonymous 6/11 - 2
7-23300355-A-G c.981A>G p.P327= Synonymous 6/11 - 3
7-23300355-A-T c.981A>T p.P327= Synonymous 6/11 - 2
7-23300361-A-G c.987A>G p.P329= Synonymous 6/11 - 1
7-23300363-C-A c.989C>A p.P330H Missense 6/11 - 1
7-23300361-AC-A c.990del p.R331Dfs*9 Frameshift 6/11 - 1
7-23300366-G-A c.992G>A p.R331K Missense 6/11 - 1
7-23300365-A-C c.991A>C p.R331= Synonymous 6/11 - 1
7-23300367-A-G c.993A>G p.R331= Synonymous 6/11 - 1
7-23300376-A-C c.1002A>C p.K334N Missense 6/11 - 2
7-23300376-A-T c.1002A>T p.K334N Missense 6/11 - 2
7-23300377-C-T c.1003C>T p.P335S Missense 6/11 - 1
7-23300380-A-C c.1006A>C p.T336P Missense 6/11 - 1
7-23300381-CC-TG c.1007_1008delinsTG p.T336M Missense 6/11 - 1
7-23300382-C-CTTACAGGCATGAGCTACCGCG c.1008_1009insTTACAGGCATGAGCTACCGCG p.T336_P337insLQA* Frameshift 6/11 - 1
7-23300383-C-T c.1009C>T p.P337S Missense 6/11 - 1
7-23300387-C-A c.1013C>A p.S338Y Missense 6/11 - 2
7-23300387-C-T c.1013C>T p.S338F Missense 6/11 - 3
7-23300500-C-T c.1018+108C>T - IntronicSNV - 6/10 1
7-23306020-T-C c.1019-116T>C - IntronicSNV - 6/10 21
7-23306099-G-A c.1019-37G>A - IntronicSNV - 6/10 1
7-23306105-A-C c.1019-31A>C - IntronicSNV - 6/10 1
7-23306108-C-CT c.1019-27dup - IntronicInsertion - 6/10 1
7-23306119-T-A c.1019-17T>A - IntronicSNV - 6/10 1
7-23306119-T-C c.1019-17T>C - IntronicSNV - 6/10 1
7-23306124-C-G c.1019-12C>G - IntronicSNV - 6/10 1
7-23306126-A-G c.1019-10A>G - IntronicSNV - 6/10 1
7-23306134-A-G c.1019-2A>G - IntronicSNV - 6/10 1
7-23306138-C-A c.1021C>A p.P341T Missense 7/11 - 1
7-23306141-G-A c.1024G>A p.A342T Missense 7/11 - 10
7-23306149-C-A c.1032C>A p.D344E Missense 7/11 - 1
7-23306153-C-A c.1036C>A p.P346T Missense 7/11 - 1
7-23306153-C-G c.1036C>G p.P346A Missense 7/11 - 1
7-23306161-G-A c.1044G>A p.E348= Synonymous 7/11 - 1
7-23306161-G-T c.1044G>T p.E348D Missense 7/11 - 1
7-23306166-G-GA c.1049_1050insA p.S350Rfs*2 Frameshift 7/11 - 1
7-23306168-A-C c.1051A>C p.R351= Synonymous 7/11 - 1
7-23306170-G-A c.1053G>A p.R351= Synonymous 7/11 - 1
7-23306171-AT-A c.1056del p.P353Lfs*20 Frameshift 7/11 - 2
7-23306174-C-T c.1057C>T p.P353S Missense 7/11 - 1
7-23306177-G-A c.1060G>A p.D354N Missense 7/11 - 1
7-23306180-G-A c.1063G>A p.E355K Missense 7/11 - 1
7-23306187-G-A c.1070G>A p.C357Y Missense 7/11 - 1
7-23306198-AG-CA c.1081_1082delinsCA p.R361Q Missense 7/11 - 1
7-23306205-G-A c.1088G>A p.G363D Missense 7/11 - 1
7-23306205-G-T c.1088G>T p.G363V Missense 7/11 - 1
7-23306213-C-G c.1096C>G p.Q366E Missense 7/11 - 1
7-23306213-C-T c.1096C>T p.Q366* Nonsense 7/11 - 1
7-23306216-G-A c.1099G>A p.A367T Missense 7/11 - 1
7-23306216-G-T c.1099G>T p.A367S Missense 7/11 - 1
7-23306220-C-T c.1103C>T p.T368I Missense 7/11 - 1
7-23306223-T-C c.1106T>C p.I369T Missense 7/11 - 2
7-23306226-C-T c.1109C>T p.T370I Missense 7/11 - 1
7-23306231-G-A c.1114G>A p.V372I Missense 7/11 - 1
7-23306500-C-T c.1117+266C>T - IntronicSNV - 7/10 1
7-23307475-T-C c.1118-30T>C - IntronicSNV - 7/10 1
7-23307503-A-G c.1118-2A>G - IntronicSNV - 7/10 1
7-23307506-G-C c.1119G>C p.E373D Missense 8/11 - 1
7-23307511-TC-AG c.1124_1125delinsAG p.I375K Missense 8/11 - 1
7-23307512-C-T c.1125C>T p.I375= Synonymous 8/11 - 1
7-23307514-T-C c.1127T>C p.L376S Missense 8/11 - 1
7-23307536-G-A c.1149G>A p.M383I Missense 8/11 - 1
7-23307537-A-G c.1150A>G p.T384A Missense 8/11 - 1
7-23307540-G-A c.1153G>A p.D385N Missense 8/11 - 1
7-23307542-C-T c.1155C>T p.D385= Synonymous 8/11 - 3
7-23307549-A-C c.1162A>C p.M388L Missense 8/11 - 1
7-23307549-A-T c.1162A>T p.M388L Missense 8/11 - 1
7-23307552-C-T c.1165C>T p.P389S Missense 8/11 - 1
7-23307553-C-T c.1166C>T p.P389L Missense 8/11 - 1
7-23307555-G-A c.1168G>A p.V390M Missense 8/11 - 1
7-23307574-C-A c.1187C>A p.S396Y Missense 8/11 - 1
7-23307574-C-T c.1187C>T p.S396F Missense 8/11 - 2
7-23307576-C-A c.1189C>A p.L397I Missense 8/11 - 1
7-23307582-G-T c.1195G>T p.D399Y Missense 8/11 - 1
7-23307589-T-C c.1202T>C p.V401A Missense 8/11 - 1
7-23307590-C-A c.1203C>A p.V401= Synonymous 8/11 - 1
7-23307590-C-G c.1203C>G p.V401= Synonymous 8/11 - 1
7-23307590-C-T c.1203C>T p.V401= Synonymous 8/11 - 1
7-23307591-G-A c.1204G>A p.V402M Missense 8/11 - 4
7-23307603-G-T c.1216G>T p.G406W Missense 8/11 - 1
7-23307604-G-C c.1217G>C p.G406A Missense 8/11 - 1
7-23309119-T-C c.1221-467T>C - IntronicSNV - 8/10 1
7-23309560-G-A c.1221-26G>A - IntronicSNV - 8/10 1
7-23309584-A-G c.1221-2A>G - IntronicSNV - 8/10 1
7-23309590-C-T c.1225C>T p.P409S Missense 9/11 - 1
7-23309599-G-T c.1234G>T p.V412F Missense 9/11 - 1
7-23309599-GTC-ATG c.1234_1236delinsATG p.V412M Missense 9/11 - 1
7-23309602-T-C c.1237T>C p.C413R Missense 9/11 - 1
7-23309603-G-A c.1238G>A p.C413Y Missense 9/11 - 1
7-23309603-G-C c.1238G>C p.C413S Missense 9/11 - 2
7-23309605-A-G c.1240A>G p.T414A Missense 9/11 - 1
7-23309606-C-T c.1241C>T p.T414I Missense 9/11 - 1
7-23309611-A-G c.1246A>G p.I416V Missense 9/11 - 1
7-23309613-T-G c.1248T>G p.I416M Missense 9/11 - 1
7-23309615-C-T c.1250C>T p.S417F Missense 9/11 - 1
7-23309621-C-G c.1256C>G p.P419R Missense 9/11 - 1
7-23309621-C-T c.1256C>T p.P419L Missense 9/11 - 1
7-23309624-C-T c.1259C>T p.T420I Missense 9/11 - 1
7-23309632-A-T c.1267A>T p.I423F Missense 9/11 - 2
7-23309637-C-A c.1272C>A p.T424= Synonymous 9/11 - 1
7-23309637-C-G c.1272C>G p.T424= Synonymous 9/11 - 1
7-23309637-C-T c.1272C>T p.T424= Synonymous 9/11 - 1
7-23309645-C-T c.1280C>T p.T427I Missense 9/11 - 1
7-23309647-GTC-ATG c.1282_1284delinsATG p.V428M Missense 9/11 - 1
7-23309653-A-C c.1288A>C p.S430R Missense 9/11 - 2
7-23309655-C-A c.1290C>A p.S430R Missense 9/11 - 2
7-23309655-C-G c.1290C>G p.S430R Missense 9/11 - 3
7-23309655-C-T c.1290C>T p.S430= Synonymous 9/11 - 1
7-23309656-C-T c.1291C>T p.P431S Missense 9/11 - 1
7-23309657-C-G c.1292C>G p.P431R Missense 9/11 - 1
7-23309657-C-T c.1292C>T p.P431L Missense 9/11 - 1
7-23309660-T-A c.1295T>A p.V432E Missense 9/11 - 1
7-23309664-T-G c.1299T>G p.D433E Missense 9/11 - 1
7-23309670-T-A c.1305T>A p.D435E Missense 9/11 - 2
7-23309670-T-G c.1305T>G p.D435E Missense 9/11 - 4
7-23309671-G-T c.1306G>T p.E436* Nonsense 9/11 - 1
7-23309673-G-C c.1308G>C p.E436D Missense 9/11 - 2
7-23309673-G-T c.1308G>T p.E436D Missense 9/11 - 1
7-23309674-A-G c.1309A>G p.M437V Missense 9/11 - 1
7-23309686-A-G c.1321A>G p.T441A Missense 9/11 - 1
7-23309687-CT-GG c.1322_1323delinsGG p.T441R Missense 9/11 - 1
7-23309689-G-A c.1324G>A p.V442M Missense 9/11 - 1
7-23309692-AGA-TGG c.1327_1329delinsTGG p.R443W Missense 9/11 - 1
7-23309695-C-A c.1330C>A p.R444= Synonymous 9/11 - 1
7-23309695-C-T c.1330C>T p.R444* Nonsense 9/11 - 2
7-23309693-G-GACGA c.1331_1334dup p.F446Nfs*17 Frameshift 9/11 - 1
7-23309696-G-A c.1331G>A p.R444Q Missense 9/11 - 1
7-23309698-A-T c.1333A>T p.T445S Missense 9/11 - 1
7-23309705-A-G c.1340A>G p.N447S Missense 9/11 - 1
7-23309706-T-A c.1341T>A p.N447K Missense 9/11 - 1
7-23309706-T-C c.1341T>C p.N447= Synonymous 9/11 - 1
7-23309706-T-G c.1341T>G p.N447K Missense 9/11 - 2
7-23309707-G-T c.1342G>T p.G448W Missense 9/11 - 1
7-23309709-G-A c.1344G>A p.G448= Synonymous 9/11 - 1
7-23309710-T-C c.1345T>C p.S449P Missense 9/11 - 1
7-23309711-C-T c.1346C>T p.S449F Missense 9/11 - 1
7-23309715-G-A c.1350G>A p.G450= Synonymous 9/11 - 1
7-23309715-G-C c.1350G>C p.G450= Synonymous 9/11 - 1
7-23309715-G-T c.1350G>T p.G450= Synonymous 9/11 - 1
7-23309716-A-G c.1351A>G p.T451A Missense 9/11 - 2
7-23309717-C-T c.1352C>T p.T451M Missense 9/11 - 1
7-23309718-G-A c.1353G>A p.T451= Synonymous 9/11 - 3
7-23309718-G-C c.1353G>C p.T451= Synonymous 9/11 - 1
7-23309718-G-T c.1353G>T p.T451= Synonymous 9/11 - 1
7-23309722-T-C c.1357T>C p.C453R Missense 9/11 - 1
7-23309723-G-A c.1358G>A p.C453Y Missense 9/11 - 1
7-23309725-G-A c.1360G>A p.V454M Missense 9/11 - 1
7-23309727-G-A c.1362G>A p.V454= Synonymous 9/11 - 2
7-23309727-G-C c.1362G>C p.V454= Synonymous 9/11 - 3
7-23309727-G-T c.1362G>T p.V454= Synonymous 9/11 - 2
7-23309731-C-T c.1366C>T p.L456F Missense 9/11 - 1
7-23309734-A-T c.1369A>T p.T457S Missense 9/11 - 1
7-23309735-C-G c.1370C>G p.T457S Missense 9/11 - 1
7-23309736-C-A c.1371C>A p.T457= Synonymous 9/11 - 1
7-23309736-C-G c.1371C>G p.T457= Synonymous 9/11 - 1
7-23309736-C-T c.1371C>T p.T457= Synonymous 9/11 - 1
7-23309743-G-A c.1378G>A p.D460N Missense 9/11 - 1
7-23309750-C-A c.1385C>A p.T462K Missense 9/11 - 1
7-23309752-A-G c.1387A>G p.S463G Missense 9/11 - 1
7-23309761-C-G c.1396C>G p.L466V Missense 9/11 - 1
7-23309761-C-T c.1396C>T p.L466F Missense 9/11 - 1
7-23309771-C-T c.1406C>T p.T469I Missense 9/11 - 3
7-23309772-C-A c.1407C>A p.T469= Synonymous 9/11 - 1
7-23309773-C-T c.1408C>T p.L470= Synonymous 9/11 - 1
7-23309775-G-A c.1410G>A p.L470= Synonymous 9/11 - 1
7-23309775-G-C c.1410G>C p.L470= Synonymous 9/11 - 1
7-23309775-G-T c.1410G>T p.L470= Synonymous 9/11 - 1
7-23309776-A-G c.1411A>G p.I471V Missense 9/11 - 1
7-23309781-T-A c.1416T>A p.S472= Synonymous 9/11 - 1
7-23309781-T-C c.1416T>C p.S472= Synonymous 9/11 - 1
7-23309781-T-G c.1416T>G p.S472= Synonymous 9/11 - 1
7-23309783-T-C c.1418T>C p.V473A Missense 9/11 - 1
7-23309796-T-A c.1429+2T>A - IntronicSNV - 9/10 1
7-23309796-T-C c.1429+2T>C - IntronicSNV - 9/10 1
7-23309796-T-G c.1429+2T>G - IntronicSNV - 9/10 1
7-23312068-C-A c.1430-1072C>A - IntronicSNV - 9/10 1
7-23313138-A-C c.1430-2A>C - IntronicSNV - 9/10 1
7-23313139-G-A c.1430-1G>A - IntronicSNV - 9/10 1
7-23313142-C-G c.1432C>G p.P478A Missense 10/11 - 1
7-23313148-TC-AG c.1438_1439delinsAG p.S480R Missense 10/11 - 1
7-23313149-C-T c.1439C>T p.S480L Missense 10/11 - 2
7-23313151-C-T c.1441C>T p.P481S Missense 10/11 - 1
7-23313152-C-T c.1442C>T p.P481L Missense 10/11 - 1
7-23313154-TTA-ATG c.1444_1446delinsATG p.L482M Missense 10/11 - 1
7-23313162-G-A c.1452G>A p.M484I Missense 10/11 - 1
7-23313166-A-C c.1456A>C p.N486H Missense 10/11 - 1
7-23313169-A-T c.1459A>T p.S487C Missense 10/11 - 1
7-23313171-T-C c.1461T>C p.S487= Synonymous 10/11 - 11
7-23313182-C-T c.1472C>T p.S491F Missense 10/11 - 1
7-23313184-G-C c.1474G>C p.V492L Missense 10/11 - 1
7-23313185-T-C c.1475T>C p.V492A Missense 10/11 - 1
7-23313188-G-C c.1478G>C p.G493A Missense 10/11 - 1
7-23313199-A-G c.1489A>G p.I497V Missense 10/11 - 2
7-23313206-T-C c.1496T>C p.V499A Missense 10/11 - 1
7-23313219-C-T c.1509C>T p.S503= Synonymous 10/11 - 1
7-23313223-T-C c.1513T>C p.L505= Synonymous 10/11 - 1
7-23313225-G-A c.1515G>A p.L505= Synonymous 10/11 - 1
7-23313227-T-A c.1517T>A p.V506E Missense 10/11 - 2
7-23313227-T-G c.1517T>G p.V506G Missense 10/11 - 2
7-23313228-G-C c.1518G>C p.V506= Synonymous 10/11 - 1
7-23313233-A-AAAAACACAAGGAATACAACCCAATAGAAAATAGTCCTGGGAATGT c.1523_1523+1insAAAACACAAGGAATACAACCCAATAGAAAATAGTCCTGGGAATGT p.K509_V523dup SpliceDonorInsertion - - 1
7-23313233-A-G c.1523A>G p.K508R Missense 10/11 - 1
7-23313235-T-A c.1523+2T>A - IntronicSNV - 10/10 1
7-23313235-T-G c.1523+2T>G - IntronicSNV - 10/10 1
7-23313462-A-G c.1524-222A>G - IntronicSNV - 10/10 2
7-23313683-G-T c.1524-1G>T - IntronicSNV - 10/10 1
7-23313685-A-G c.1525A>G p.K509E Missense 11/11 - 2
7-23313688-CA-GC c.1528_1529delinsGC p.H510A Missense 11/11 - 2
7-23313691-A-G c.1531A>G p.K511E Missense 11/11 - 1
7-23313698-A-C c.1538A>C p.Y513S Missense 11/11 - 1
7-23313702-C-T c.1542C>T p.N514= Synonymous 11/11 - 1
7-23313709-G-A c.1549G>A p.E517K Missense 11/11 - 1
7-23313709-G-C c.1549G>C p.E517Q Missense 11/11 - 1
7-23313714-T-C c.1554T>C p.N518= Synonymous 11/11 - 1
7-23313715-A-G c.1555A>G p.S519G Missense 11/11 - 1
7-23313716-G-T c.1556G>T p.S519I Missense 11/11 - 2
7-23313718-C-A c.1558C>A p.P520T Missense 11/11 - 1
7-23313718-C-T c.1558C>T p.P520S Missense 11/11 - 1
7-23313719-C-CAAAACACAAGGAATACAACCCAATAGAAAATAGTCCTGGGAATGT c.1559_1560insAAAACACAAGGAATACAACCCAATAGAAAATAGTCCTGGGAATGT p.P520_G521insKHKEYNPIENSPGNV InFrameInsertion 11/11 - 1
7-23313723-G-A c.1563G>A p.G521= Synonymous 11/11 - 1
7-23313723-G-C c.1563G>C p.G521= Synonymous 11/11 - 1
7-23313723-G-T c.1563G>T p.G521= Synonymous 11/11 - 1
7-23313734-G-A c.1574G>A p.R525K Missense 11/11 - 2
7-23313734-G-C c.1574G>C p.R525T Missense 11/11 - 1
7-23313736-A-C c.1576A>C p.S526R Missense 11/11 - 2
7-23313738-C-A c.1578C>A p.S526R Missense 11/11 - 7
7-23313738-C-G c.1578C>G p.S526R Missense 11/11 - 2
7-23313741-A-C c.1581A>C p.K527N Missense 11/11 - 1
7-23313741-A-T c.1581A>T p.K527N Missense 11/11 - 1
7-23313745-C-T c.1585C>T p.L529= Synonymous 11/11 - 5
7-23313747-G-A c.1587G>A p.L529= Synonymous 11/11 - 1
7-23313747-G-C c.1587G>C p.L529= Synonymous 11/11 - 1
7-23313747-G-T c.1587G>T p.L529= Synonymous 11/11 - 1
7-23313748-AG-GA c.1588_1589delinsGA p.S530D Missense 11/11 - 1
7-23313748-AG-GC c.1588_1589delinsGC p.S530A Missense 11/11 - 1
7-23313749-G-C c.1589G>C p.S530T Missense 11/11 - 1
7-23313757-C-T c.1597C>T p.L533F Missense 11/11 - 1
7-23313761-A-C c.1601A>C p.N534T Missense 11/11 - 1
7-23313763-C-T c.1603C>T p.R535C Missense 11/11 - 2
7-23313767-C-G c.1607C>G p.A536G Missense 11/11 - 1
7-23313774-C-A c.1614C>A p.A538= Synonymous 11/11 - 1
7-23313775-G-A c.1615G>A p.V539M Missense 11/11 - 2
7-23313778-T-C c.1618T>C p.F540L Missense 11/11 - 2
7-23313782-T-C c.1622T>C p.F541S Missense 11/11 - 1
7-23313786-G-A c.1626G>A p.P542= Synonymous 11/11 - 1
7-23313786-G-C c.1626G>C p.P542= Synonymous 11/11 - 1
7-23313786-G-T c.1626G>T p.P542= Synonymous 11/11 - 1
7-23313791-AC-A c.1633del p.Q545Rfs*23 Frameshift 11/11 - 1
7-23313793-C-T c.1633C>T p.Q545* Nonsense 11/11 - 1
7-23313795-G-C c.1635G>C p.Q545H Missense 11/11 - 1
7-23313795-G-T c.1635G>T p.Q545H Missense 11/11 - 1
7-23313806-C-G c.1646C>G p.P549R Missense 11/11 - 2
7-23313806-C-T c.1646C>T p.P549L Missense 11/11 - 2
7-23313807-G-A c.1647G>A p.P549= Synonymous 11/11 - 1
7-23313808-C-G c.1648C>G p.L550V Missense 11/11 - 1
7-23313823-G-T c.1663G>T p.E555* Nonsense 11/11 - 3
7-23313827-T-G c.1667T>G p.F556C Missense 11/11 - 2
7-23313849-G-A c.*6G>A - 3-UTRSNV 11/11 - 2
7-23314062-C-G c.*219C>G - 3-UTRSNV 11/11 - 3
7-23314547-C-T c.*704C>T - 3-UTRSNV 11/11 - 4
7-23314579-A-T c.*736A>T - 3-UTRSNV 11/11 - 1