IL6R

IL6R interleukin 6 receptor

Annotation transcript: NM_000565.4

755 unique variant annotations were identified in 1145 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-154378113-C-G c.8C>G p.A3G Missense 1/10 - 1
1-154378113-C-T c.8C>T p.A3V Missense 1/10 - 1
1-154378115-CGT-C c.10_11del p.V4Rfs*129 Frameshift 1/10 - 1
1-154378123-C-T c.18C>T p.C6= Synonymous 1/10 - 1
1-154378127-C-T c.22C>T p.L8= Synonymous 1/10 - 1
1-154378129-G-A c.24G>A p.L8= Synonymous 1/10 - 1
1-154378129-G-C c.24G>C p.L8= Synonymous 1/10 - 1
1-154378129-G-T c.24G>T p.L8= Synonymous 1/10 - 1
1-154378130-C-T c.25C>T p.L9= Synonymous 1/10 - 1
1-154378132-G-A c.27G>A p.L9= Synonymous 1/10 - 1
1-154378132-G-C c.27G>C p.L9= Synonymous 1/10 - 1
1-154378132-G-T c.27G>T p.L9= Synonymous 1/10 - 1
1-154378133-GC-TA c.28_29delinsTA p.A10Y Missense 1/10 - 1
1-154378133-GCT-ATG c.28_30delinsATG p.A10M Missense 1/10 - 2
1-154378133-GC-TT c.28_29delinsTT p.A10F Missense 1/10 - 2
1-154378133-GCT-TAA c.28_30delinsTAA p.A10* Nonsense 1/10 - 1
1-154378133-G-T c.28G>T p.A10S Missense 1/10 - 1
1-154378134-C-G c.29C>G p.A10G Missense 1/10 - 2
1-154378135-T-A c.30T>A p.A10= Synonymous 1/10 - 2
1-154378135-T-C c.30T>C p.A10= Synonymous 1/10 - 2
1-154378135-T-G c.30T>G p.A10= Synonymous 1/10 - 2
1-154378137-CC-AG c.32_33delinsAG p.A11E Missense 1/10 - 1
1-154378142-C-T c.37C>T p.L13= Synonymous 1/10 - 1
1-154378142-CT-GC c.37_38delinsGC p.L13A Missense 1/10 - 2
1-154378145-G-T c.40G>T p.A14S Missense 1/10 - 1
1-154378146-C-T c.41C>T p.A14V Missense 1/10 - 1
1-154378147-C-CA c.42_43insA p.A15Sfs*119 Frameshift 1/10 - 1
1-154378148-GC-AT c.43_44delinsAT p.A15M Missense 1/10 - 1
1-154378149-C-G c.44C>G p.A15G Missense 1/10 - 1
1-154378151-CCG-ATC c.46_48delinsATC p.P16I Missense 1/10 - 1
1-154378152-CGGGA-C c.49_52del p.G17Rfs*18 Frameshift 1/10 - 1
1-154378157-G-C c.52G>C p.A18P Missense 1/10 - 1
1-154378157-GCG-TTT c.52_54delinsTTT p.A18F Missense 1/10 - 1
1-154378157-G-GCTCC c.53_54insTCCC p.A19Pfs*116 Frameshift 1/10 - 1
1-154378158-C-G c.53C>G p.A18G Missense 1/10 - 1
1-154378158-C-T c.53C>T p.A18V Missense 1/10 - 3
1-154378160-G-C c.55G>C p.A19P Missense 1/10 - 2
1-154378161-C-A c.56C>A p.A19E Missense 1/10 - 3
1-154378161-C-G c.56C>G p.A19G Missense 1/10 - 4
1-154378161-CG-AC c.56_57delinsAC p.A19D Missense 1/10 - 3
1-154378162-G-A c.57G>A p.A19= Synonymous 1/10 - 1
1-154378162-G-C c.57G>C p.A19= Synonymous 1/10 - 1
1-154378162-G-T c.57G>T p.A19= Synonymous 1/10 - 1
1-154378164-CT-C c.59del p.L20Rfs*16 Frameshift 1/10 - 1
1-154378168-C-A c.63C>A p.A21= Synonymous 1/10 - 2
1-154378168-C-G c.63C>G p.A21= Synonymous 1/10 - 2
1-154378168-C-T c.63C>T p.A21= Synonymous 1/10 - 2
1-154378170-C-A c.65C>A p.P22Q Missense 1/10 - 1
1-154378170-C-G c.65C>G p.P22R Missense 1/10 - 1
1-154378173-G-A c.68G>A p.R23K Missense 1/10 - 1
1-154378175-C-G c.70C>G p.R24G Missense 1/10 - 1
1-154378175-C-T c.70C>T p.R24C Missense 1/10 - 2
1-154378178-T-A c.73T>A p.C25S Missense 1/10 - 1
1-154378179-G-A c.74G>A p.C25Y Missense 1/10 - 1
1-154378181-CC-GG c.76_77inv p.P26G Missense 1/10 - 2
1-154378181-C-T c.76C>T p.P26S Missense 1/10 - 2
1-154378184-G-A c.79G>A p.A27T Missense 1/10 - 1
1-154378184-GC-AA c.79_80delinsAA p.A27K Missense 1/10 - 1
1-154378184-GCG-AAC c.79_81delinsAAC p.A27N Missense 1/10 - 1
1-154378184-GCG-TGT c.79_81delinsTGT p.A27C Missense 1/10 - 1
1-154378187-CAG-GAC c.82_84delinsGAC p.Q28D Missense 1/10 - 1
1-154378189-G-C c.84G>C p.Q28H Missense 1/10 - 2
1-154378189-G-T c.84G>T p.Q28H Missense 1/10 - 2
1-154378231-C-A c.85+41C>A - IntronicSNV - 1/9 1
1-154378248-C-A c.85+58C>A - IntronicSNV - 1/9 1
1-154378287-G-A c.85+97G>A - IntronicSNV - 1/9 1
1-154378336-T-G c.85+146T>G - IntronicSNV - 1/9 1
1-154378340-T-G c.85+150T>G - IntronicSNV - 1/9 1
1-154379369-A-C c.85+1179A>C - IntronicSNV - 1/9 4
1-154380486-G-A c.85+2296G>A - IntronicSNV - 1/9 2
1-154380486-G-C c.85+2296G>C - IntronicSNV - 1/9 2
1-154380784-T-C c.85+2594T>C - IntronicSNV - 1/9 2
1-154381103-A-G c.85+2913A>G - IntronicSNV - 1/9 35
1-154382049-T-G c.85+3859T>G - IntronicSNV - 1/9 17
1-154382443-A-C c.85+4253A>C - IntronicSNV - 1/9 2
1-154382443-A-G c.85+4253A>G - IntronicSNV - 1/9 2
1-154385485-T-C c.85+7295T>C - IntronicSNV - 1/9 1
1-154388441-CA-C c.85+10260del - IntronicDeletion - 1/9 1
1-154388668-T-C c.85+10478T>C - IntronicSNV - 1/9 1
1-154388972-G-A c.85+10782G>A - IntronicSNV - 1/9 1
1-154389196-A-T c.85+11006A>T - IntronicSNV - 1/9 14
1-154389741-G-A c.85+11551G>A - IntronicSNV - 1/9 3
1-154389741-G-C c.85+11551G>C - IntronicSNV - 1/9 3
1-154391882-G-A c.86-9790G>A - IntronicSNV - 1/9 1
1-154392472-A-T c.86-9200A>T - IntronicSNV - 1/9 1
1-154394296-C-T c.86-7376C>T - IntronicSNV - 1/9 6
1-154394297-G-A c.86-7375G>A - IntronicSNV - 1/9 1
1-154394417-T-A c.86-7255T>A - IntronicSNV - 1/9 7
1-154394417-T-C c.86-7255T>C - IntronicSNV - 1/9 7
1-154394966-T-C c.86-6706T>C - IntronicSNV - 1/9 1
1-154395077-A-G c.86-6595A>G - IntronicSNV - 1/9 2
1-154395125-G-A c.86-6547G>A - IntronicSNV - 1/9 3
1-154395212-C-A c.86-6460C>A - IntronicSNV - 1/9 5
1-154395839-C-A c.86-5833C>A - IntronicSNV - 1/9 15
1-154395839-C-T c.86-5833C>T - IntronicSNV - 1/9 15
1-154395946-A-G c.86-5726A>G - IntronicSNV - 1/9 14
1-154397158-C-T c.86-4514C>T - IntronicSNV - 1/9 1
1-154397245-T-A c.86-4427T>A - IntronicSNV - 1/9 1
1-154397245-T-C c.86-4427T>C - IntronicSNV - 1/9 1
1-154397245-T-G c.86-4427T>G - IntronicSNV - 1/9 1
1-154397416-T-C c.86-4256T>C - IntronicSNV - 1/9 2
1-154397589-T-C c.86-4083T>C - IntronicSNV - 1/9 1
1-154397610-A-G c.86-4062A>G - IntronicSNV - 1/9 1
1-154397932-C-T c.86-3740C>T - IntronicSNV - 1/9 1
1-154397933-G-A c.86-3739G>A - IntronicSNV - 1/9 2
1-154397984-T-G c.86-3688T>G - IntronicSNV - 1/9 2
1-154400015-G-T c.86-1657G>T - IntronicSNV - 1/9 24
1-154400320-A-G c.86-1352A>G - IntronicSNV - 1/9 3
1-154400799-T-A c.86-873T>A - IntronicSNV - 1/9 4
1-154400799-T-C c.86-873T>C - IntronicSNV - 1/9 4
1-154401005-C-T c.86-667C>T - IntronicSNV - 1/9 1
1-154401605-T-C c.86-67T>C - IntronicSNV - 1/9 1
1-154401674-G-A c.88G>A p.V30M Missense 2/10 - 2
1-154401675-T-C c.89T>C p.V30A Missense 2/10 - 1
1-154401678-CG-AC c.92_93delinsAC p.A31D Missense 2/10 - 1
1-154401678-C-T c.92C>T p.A31V Missense 2/10 - 5
1-154401679-G-A c.93G>A p.A31= Synonymous 2/10 - 18
1-154401679-G-C c.93G>C p.A31= Synonymous 2/10 - 6
1-154401679-G-T c.93G>T p.A31= Synonymous 2/10 - 6
1-154401686-G-A c.100G>A p.V34M Missense 2/10 - 2
1-154401686-G-C c.100G>C p.V34L Missense 2/10 - 4
1-154401686-G-T c.100G>T p.V34L Missense 2/10 - 4
1-154401690-T-A c.104T>A p.L35Q Missense 2/10 - 1
1-154401691-G-C c.105G>C p.L35= Synonymous 2/10 - 1
1-154401692-A-G c.106A>G p.T36A Missense 2/10 - 1
1-154401693-CC-TG c.107_108delinsTG p.T36M Missense 2/10 - 1
1-154401701-C-G c.115C>G p.P39A Missense 2/10 - 1
1-154401702-C-G c.116C>G p.P39R Missense 2/10 - 1
1-154401712-C-T c.126C>T p.S42= Synonymous 2/10 - 1
1-154401713-G-A c.127G>A p.V43M Missense 2/10 - 3
1-154401718-T-A c.132T>A p.T44= Synonymous 2/10 - 2
1-154401718-T-C c.132T>C p.T44= Synonymous 2/10 - 1
1-154401718-T-G c.132T>G p.T44= Synonymous 2/10 - 1
1-154401722-A-T c.136A>T p.T46S Missense 2/10 - 1
1-154401723-C-G c.137C>G p.T46S Missense 2/10 - 1
1-154401723-C-T c.137C>T p.T46I Missense 2/10 - 1
1-154401726-G-T c.140G>T p.C47F Missense 2/10 - 2
1-154401729-C-G c.143C>G p.P48R Missense 2/10 - 1
1-154401730-G-A c.144G>A p.P48= Synonymous 2/10 - 2
1-154401730-G-C c.144G>C p.P48= Synonymous 2/10 - 1
1-154401730-G-T c.144G>T p.P48= Synonymous 2/10 - 1
1-154401731-GG-TA c.145_146delinsTA p.G49* Nonsense 2/10 - 1
1-154401732-G-A c.146G>A p.G49E Missense 2/10 - 1
1-154401732-GG-AC c.146_147delinsAC p.G49D Missense 2/10 - 1
1-154401732-G-T c.146G>T p.G49V Missense 2/10 - 1
1-154401729-CG-C c.148del p.V50* Frameshift 2/10 - 2
1-154401734-GT-TA c.148_149delinsTA p.V50* Nonsense 2/10 - 3
1-154401737-G-C c.151G>C p.E51Q Missense 2/10 - 1
1-154401738-A-C c.152A>C p.E51A Missense 2/10 - 1
1-154401740-C-T c.154C>T p.P52S Missense 2/10 - 1
1-154401742-G-A c.156G>A p.P52= Synonymous 2/10 - 1
1-154401742-G-C c.156G>C p.P52= Synonymous 2/10 - 1
1-154401742-G-T c.156G>T p.P52= Synonymous 2/10 - 1
1-154401743-G-T c.157G>T p.E53* Nonsense 2/10 - 1
1-154401747-A-C c.161A>C p.D54A Missense 2/10 - 1
1-154401752-GC-TT c.166_167delinsTT p.A56F Missense 2/10 - 1
1-154401753-C-G c.167C>G p.A56G Missense 2/10 - 1
1-154401754-C-A c.168C>A p.A56= Synonymous 2/10 - 1
1-154401754-C-G c.168C>G p.A56= Synonymous 2/10 - 1
1-154401754-C-T c.168C>T p.A56= Synonymous 2/10 - 1
1-154401756-C-T c.170C>T p.T57I Missense 2/10 - 1
1-154401759-T-C c.173T>C p.V58A Missense 2/10 - 1
1-154401760-T-A c.174T>A p.V58= Synonymous 2/10 - 1
1-154401760-T-C c.174T>C p.V58= Synonymous 2/10 - 1
1-154401760-T-G c.174T>G p.V58= Synonymous 2/10 - 1
1-154401764-T-A c.178T>A p.W60R Missense 2/10 - 2
1-154401764-T-C c.178T>C p.W60R Missense 2/10 - 2
1-154401765-G-A c.179G>A p.W60* Nonsense 2/10 - 2
1-154401766-G-A c.180G>A p.W60* Nonsense 2/10 - 2
1-154401767-G-C c.181G>C p.V61L Missense 2/10 - 1
1-154401774-G-A c.188G>A p.R63K Missense 2/10 - 5
1-154401779-CCG-TGT c.193_195delinsTGT p.P65C Missense 2/10 - 1
1-154401779-CCG-TTT c.193_195delinsTTT p.P65F Missense 2/10 - 1
1-154401780-C-G c.194C>G p.P65R Missense 2/10 - 1
1-154401780-C-T c.194C>T p.P65L Missense 2/10 - 4
1-154401782-GC-CG c.196_197delinsCG p.A66R Missense 2/10 - 1
1-154401783-CT-AG c.197_198inv p.A66E Missense 2/10 - 1
1-154401785-G-T c.199G>T p.A67S Missense 2/10 - 5
1-154401789-G-A c.203G>A p.G68D Missense 2/10 - 1
1-154401794-C-T c.208C>T p.H70Y Missense 2/10 - 1
1-154401795-A-C c.209A>C p.H70P Missense 2/10 - 1
1-154401796-C-T c.210C>T p.H70= Synonymous 2/10 - 3
1-154401809-GC-TT c.223_224delinsTT p.A75F Missense 2/10 - 1
1-154401810-C-G c.224C>G p.A75G Missense 2/10 - 1
1-154401816-T-C c.230T>C p.M77T Missense 2/10 - 1
1-154401817-G-A c.231G>A p.M77I Missense 2/10 - 2
1-154401817-G-C c.231G>C p.M77I Missense 2/10 - 2
1-154401817-G-T c.231G>T p.M77I Missense 2/10 - 2
1-154401818-G-T c.232G>T p.G78* Nonsense 2/10 - 2
1-154401821-AG-CA c.235_236delinsCA p.R79Q Missense 2/10 - 1
1-154401821-A-T c.235A>T p.R79W Missense 2/10 - 1
1-154401824-A-G c.238A>G p.R80G Missense 2/10 - 1
1-154401825-G-T c.239G>T p.R80M Missense 2/10 - 1
1-154401827-CT-TC c.241_242delinsTC p.L81S Missense 2/10 - 1
1-154401830-C-G c.244C>G p.L82V Missense 2/10 - 1
1-154401836-A-G c.250A>G p.R84G Missense 2/10 - 1
1-154401836-A-T c.250A>T p.R84W Missense 2/10 - 1
1-154401836-A-C c.250A>C p.R84= Synonymous 2/10 - 1
1-154401838-G-A c.252G>A p.R84= Synonymous 2/10 - 1
1-154401839-T-G c.253T>G p.S85A Missense 2/10 - 1
1-154401840-C-T c.254C>T p.S85L Missense 2/10 - 1
1-154401841-G-A c.255G>A p.S85= Synonymous 2/10 - 1
1-154401841-G-C c.255G>C p.S85= Synonymous 2/10 - 1
1-154401841-G-T c.255G>T p.S85= Synonymous 2/10 - 1
1-154401843-T-G c.257T>G p.V86G Missense 2/10 - 1
1-154401850-C-A c.264C>A p.L88= Synonymous 2/10 - 2
1-154401850-C-G c.264C>G p.L88= Synonymous 2/10 - 2
1-154401850-C-T c.264C>T p.L88= Synonymous 2/10 - 2
1-154401854-G-T c.268G>T p.D90Y Missense 2/10 - 1
1-154401856-C-T c.270C>T p.D90= Synonymous 2/10 - 1
1-154401858-C-T c.272C>T p.S91F Missense 2/10 - 2
1-154401862-A-C c.276A>C p.G92= Synonymous 2/10 - 1
1-154401869-TC-AG c.283_284delinsAG p.S95R Missense 2/10 - 1
1-154401872-T-C c.286T>C p.C96R Missense 2/10 - 1
1-154401875-T-C c.289T>C p.Y97H Missense 2/10 - 1
1-154401880-G-A c.294G>A p.R98= Synonymous 2/10 - 1
1-154401881-GC-TG c.295_296delinsTG p.A99C Missense 2/10 - 1
1-154401883-C-T c.297C>T p.A99= Synonymous 2/10 - 2
1-154401885-G-A c.299G>A p.G100D Missense 2/10 - 1
1-154401888-G-A c.302G>A p.R101H Missense 2/10 - 1
1-154401896-G-A c.310G>A p.G104R Missense 2/10 - 1
1-154401896-G-C c.310G>C p.G104R Missense 2/10 - 1
1-154401897-G-T c.311G>T p.G104V Missense 2/10 - 1
1-154401899-A-T c.313A>T p.T105S Missense 2/10 - 6
1-154401900-C-A c.314C>A p.T105N Missense 2/10 - 1
1-154401900-C-G c.314C>G p.T105S Missense 2/10 - 4
1-154401907-C-T c.321C>T p.H107= Synonymous 2/10 - 1
1-154401914-GTG-TGT c.328_330delinsTGT p.V110C Missense 2/10 - 1
1-154401915-T-C c.329T>C p.V110A Missense 2/10 - 1
1-154401951-G-A c.334+31G>A - IntronicSNV - 2/9 1
1-154401972-T-C c.334+52T>C - IntronicSNV - 2/9 13
1-154401972-T-G c.334+52T>G - IntronicSNV - 2/9 11
1-154402401-AT-A c.334+488del - IntronicDeletion - 2/9 1
1-154402958-G-GT c.336dup p.P113Sfs*21 SpliceAcceptorInsertion 3/10 - 1
1-154402960-T-TA c.336_337insA p.P113Tfs*21 SpliceAcceptorInsertion 3/10 - 1
1-154402960-T-TG c.336_337insG p.P113Afs*21 SpliceAcceptorInsertion 3/10 - 1
1-154402961-C-T c.337C>T p.P113S Missense 3/10 - 7
1-154402962-C-T c.338C>T p.P113L Missense 3/10 - 2
1-154402960-T-TC c.342dup p.E115Rfs*19 SpliceAcceptorInsertion 3/10 - 2
1-154402967-G-A c.343G>A p.E115K Missense 3/10 - 3
1-154402970-G-A c.346G>A p.E116K Missense 3/10 - 1
1-154402973-C-T c.349C>T p.P117S Missense 3/10 - 1
1-154402974-C-T c.350C>T p.P117L Missense 3/10 - 1
1-154402975-C-A c.351C>A p.P117= Synonymous 3/10 - 1
1-154402975-C-G c.351C>G p.P117= Synonymous 3/10 - 1
1-154402975-C-T c.351C>T p.P117= Synonymous 3/10 - 1
1-154402983-C-G c.359C>G p.S120C Missense 3/10 - 1
1-154402983-C-T c.359C>T p.S120F Missense 3/10 - 1
1-154402985-T-C c.361T>C p.C121R Missense 3/10 - 1
1-154402985-T-G c.361T>G p.C121G Missense 3/10 - 1
1-154402987-C-G c.363C>G p.C121W Missense 3/10 - 1
1-154402991-CGG-AGC c.367_369delinsAGC p.R123S Missense 3/10 - 1
1-154402992-G-A c.368G>A p.R123Q Missense 3/10 - 1
1-154402994-A-G c.370A>G p.K124E Missense 3/10 - 1
1-154402997-AG-CT c.373_374inv p.S125L Missense 3/10 - 1
1-154403002-C-T c.378C>T p.P126= Synonymous 3/10 - 4
1-154402998-GC-G c.379del p.L127Sfs*16 Frameshift 3/10 - 1
1-154403004-T-G c.380T>G p.L127R Missense 3/10 - 2
1-154403006-AG-TA c.382_383delinsTA p.S128Y Missense 3/10 - 1
1-154403009-A-G c.385A>G p.N129D Missense 3/10 - 1
1-154403030-C-T c.406C>T p.P136S Missense 3/10 - 2
1-154403031-C-T c.407C>T p.P136L Missense 3/10 - 9
1-154403033-C-A c.409C>A p.R137= Synonymous 3/10 - 1
1-154403035-G-A c.411G>A p.R137= Synonymous 3/10 - 1
1-154403035-G-C c.411G>C p.R137= Synonymous 3/10 - 1
1-154403035-G-T c.411G>T p.R137= Synonymous 3/10 - 2
1-154403034-GG-AT c.410_411delinsAT p.R137H Missense 3/10 - 1
1-154403037-G-T c.413G>T p.S138I Missense 3/10 - 1
1-154403040-C-T c.416C>T p.T139I Missense 3/10 - 1
1-154403043-C-A c.419C>A p.P140Q Missense 3/10 - 1
1-154403046-C-A c.422C>A p.S141Y Missense 3/10 - 2
1-154403046-CC-TT c.422_423delinsTT p.S141F Missense 3/10 - 1
1-154403046-C-T c.422C>T p.S141F Missense 3/10 - 4
1-154403047-C-A c.423C>A p.S141= Synonymous 3/10 - 1
1-154403047-C-G c.423C>G p.S141= Synonymous 3/10 - 1
1-154403047-C-T c.423C>T p.S141= Synonymous 3/10 - 2
1-154403052-C-T c.428C>T p.T143M Missense 3/10 - 1
1-154403053-G-A c.429G>A p.T143= Synonymous 3/10 - 4
1-154403053-G-C c.429G>C p.T143= Synonymous 3/10 - 2
1-154403053-G-T c.429G>T p.T143= Synonymous 3/10 - 2
1-154403057-AAG-GAC c.433_435delinsGAC p.K145D Missense 3/10 - 1
1-154403059-G-C c.435G>C p.K145N Missense 3/10 - 1
1-154403059-G-T c.435G>T p.K145N Missense 3/10 - 1
1-154403064-T-G c.440T>G p.V147G Missense 3/10 - 1
1-154403066-C-T c.442C>T p.L148F Missense 3/10 - 1
1-154403067-T-G c.443T>G p.L148R Missense 3/10 - 1
1-154403072-G-C c.448G>C p.V150L Missense 3/10 - 2
1-154403072-G-T c.448G>T p.V150L Missense 3/10 - 3
1-154403074-G-A c.450G>A p.V150= Synonymous 3/10 - 1
1-154403079-A-C c.455A>C p.K152T Missense 3/10 - 1
1-154403079-A-T c.455A>T p.K152M Missense 3/10 - 1
1-154404336-C-G c.458+1254C>G - IntronicSNV - 3/9 13
1-154404336-C-T c.458+1254C>T - IntronicSNV - 3/9 13
1-154404380-C-G c.458+1298C>G - IntronicSNV - 3/9 8
1-154404406-A-C c.458+1324A>C - IntronicSNV - 3/9 11
1-154405024-A-G c.458+1942A>G - IntronicSNV - 3/9 6
1-154405058-T-G c.459-1937T>G - IntronicSNV - 3/9 2
1-154406540-T-G c.459-455T>G - IntronicSNV - 3/9 2
1-154406656-A-G c.459-339A>G - IntronicSNV - 3/9 3
1-154406999-A-T c.463A>T p.N155Y Missense 4/10 - 1
1-154407003-G-T c.467G>T p.S156I Missense 4/10 - 1
1-154407005-C-T c.469C>T p.P157S Missense 4/10 - 1
1-154407009-C-T c.473C>T p.A158V Missense 4/10 - 1
1-154407010-C-T c.474C>T p.A158= Synonymous 4/10 - 1
1-154407011-G-A c.475G>A p.E159K Missense 4/10 - 2
1-154407013-A-C c.477A>C p.E159D Missense 4/10 - 1
1-154407015-A-C c.479A>C p.D160A Missense 4/10 - 3
1-154407016-C-T c.480C>T p.D160= Synonymous 4/10 - 1
1-154407027-C-T c.491C>T p.P164L Missense 4/10 - 1
1-154407031-C-A c.495C>A p.C165* Nonsense 4/10 - 1
1-154407032-C-G c.496C>G p.Q166E Missense 4/10 - 1
1-154407055-G-C c.519G>C p.K173N Missense 4/10 - 1
1-154407055-G-T c.519G>T p.K173N Missense 4/10 - 1
1-154407062-T-A c.526T>A p.C176S Missense 4/10 - 1
1-154407069-T-A c.533T>A p.L178* Nonsense 4/10 - 1
1-154407069-T-G c.533T>G p.L178* Nonsense 4/10 - 1
1-154407071-GCA-TTT c.535_537delinsTTT p.A179F Missense 4/10 - 1
1-154407078-C-A c.542C>A p.P181Q Missense 4/10 - 2
1-154407082-G-A c.546G>A p.E182= Synonymous 4/10 - 1
1-154407081-AG-A c.548del p.G183Efs*7 Frameshift 4/10 - 2
1-154407086-G-C c.550G>C p.D184H Missense 4/10 - 3
1-154407090-G-T c.554G>T p.S185I Missense 4/10 - 2
1-154407091-C-A c.555C>A p.S185R Missense 4/10 - 1
1-154407091-C-T c.555C>T p.S185= Synonymous 4/10 - 1
1-154407092-T-G c.556T>G p.S186A Missense 4/10 - 1
1-154407097-C-T c.561C>T p.F187= Synonymous 4/10 - 1
1-154407098-T-G c.562T>G p.Y188D Missense 4/10 - 1
1-154407099-A-G c.563A>G p.Y188C Missense 4/10 - 1
1-154407101-A-G c.565A>G p.I189V Missense 4/10 - 1
1-154407103-A-G c.567A>G p.I189M Missense 4/10 - 3
1-154407108-C-G c.572C>G p.S191C Missense 4/10 - 1
1-154407115-C-T c.579C>T p.C193= Synonymous 4/10 - 1
1-154407116-G-A c.580G>A p.V194I Missense 4/10 - 8
1-154407118-C-T c.582C>T p.V194= Synonymous 4/10 - 2
1-154407122-AG-TT c.586_587delinsTT p.S196F Missense 4/10 - 1
1-154407128-GTC-ATG c.592_594delinsATG p.V198M Missense 4/10 - 1
1-154407130-C-A c.594C>A p.V198= Synonymous 4/10 - 2
1-154407130-C-G c.594C>G p.V198= Synonymous 4/10 - 2
1-154407130-C-T c.594C>T p.V198= Synonymous 4/10 - 2
1-154407131-G-A c.595G>A p.G199R Missense 4/10 - 1
1-154407131-G-C c.595G>C p.G199R Missense 4/10 - 1
1-154407131-GGG-AGC c.595_597delinsAGC p.G199S Missense 4/10 - 1
1-154407131-G-T c.595G>T p.G199W Missense 4/10 - 2
1-154407132-G-A c.596G>A p.G199E Missense 4/10 - 4
1-154407134-A-C c.598A>C p.S200R Missense 4/10 - 1
1-154407136-C-A c.600C>A p.S200R Missense 4/10 - 1
1-154407136-C-G c.600C>G p.S200R Missense 4/10 - 1
1-154407137-A-C c.601A>C p.K201Q Missense 4/10 - 1
1-154407137-A-G c.601A>G p.K201E Missense 4/10 - 1
1-154407138-A-C c.602A>C p.K201T Missense 4/10 - 3
1-154407138-A-T c.602A>T p.K201M Missense 4/10 - 1
1-154407140-T-C c.604T>C p.F202L Missense 4/10 - 1
1-154407142-C-A c.606C>A p.F202L Missense 4/10 - 1
1-154407142-C-G c.606C>G p.F202L Missense 4/10 - 1
1-154407144-G-C c.608G>C p.S203T Missense 4/10 - 1
1-154407156-CC-TG c.620_621delinsTG p.T207M Missense 4/10 - 1
1-154407165-G-A c.629G>A p.G210D Missense 4/10 - 1
1-154407167-T-C c.631T>C p.C211R Missense 4/10 - 1
1-154407167-TG-GC c.631_632delinsGC p.C211A Missense 4/10 - 1
1-154407170-GG-AC c.634_635delinsAC p.G212T Missense 4/10 - 1
1-154407177-G-A c.640+1G>A - IntronicSNV - 4/9 1
1-154407217-T-C c.640+41T>C - IntronicSNV - 4/9 1
1-154407419-A-C c.641-47A>C - IntronicSNV - 4/9 16
1-154407419-A-T c.641-47A>T - IntronicSNV - 4/9 16
1-154407475-A-T c.650A>T p.D217V Missense 5/10 - 2
1-154407477-C-A c.652C>A p.P218T Missense 5/10 - 1
1-154407479-G-A c.654G>A p.P218= Synonymous 5/10 - 3
1-154407479-G-C c.654G>C p.P218= Synonymous 5/10 - 3
1-154407479-G-T c.654G>T p.P218= Synonymous 5/10 - 3
1-154407501-G-A c.676G>A p.A226T Missense 5/10 - 1
1-154407502-C-T c.677C>T p.A226V Missense 5/10 - 2
1-154407504-G-A c.679G>A p.V227M Missense 5/10 - 3
1-154407505-T-C c.680T>C p.V227A Missense 5/10 - 1
1-154407507-G-A c.682G>A p.A228T Missense 5/10 - 1
1-154407507-G-C c.682G>C p.A228P Missense 5/10 - 1
1-154407508-C-T c.683C>T p.A228V Missense 5/10 - 2
1-154407519-C-T c.694C>T p.R232C Missense 5/10 - 7
1-154407520-G-A c.695G>A p.R232H Missense 5/10 - 2
1-154407522-T-A c.697T>A p.W233R Missense 5/10 - 1
1-154407522-T-C c.697T>C p.W233R Missense 5/10 - 1
1-154407525-C-A c.700C>A p.L234I Missense 5/10 - 1
1-154407525-CT-GC c.700_701delinsGC p.L234A Missense 5/10 - 4
1-154407530-T-C c.705T>C p.S235= Synonymous 5/10 - 1
1-154407531-G-T c.706G>T p.V236F Missense 5/10 - 1
1-154407540-C-A c.715C>A p.Q239K Missense 5/10 - 1
1-154407551-C-A c.726C>A p.H242Q Missense 5/10 - 1
1-154407551-C-G c.726C>G p.H242Q Missense 5/10 - 1
1-154407561-T-G c.736T>G p.S246A Missense 5/10 - 1
1-154407565-C-T c.740C>T p.S247F Missense 5/10 - 3
1-154407567-T-C c.742T>C p.F248L Missense 5/10 - 1
1-154407567-T-G c.742T>G p.F248V Missense 5/10 - 1
1-154407569-C-A c.744C>A p.F248L Missense 5/10 - 1
1-154407569-C-G c.744C>G p.F248L Missense 5/10 - 1
1-154407570-TA-GC c.745_746delinsGC p.Y249A Missense 5/10 - 1
1-154407574-G-T c.749G>T p.R250I Missense 5/10 - 1
1-154407579-C-A c.754C>A p.R252= Synonymous 5/10 - 1
1-154407579-C-T c.754C>T p.R252W Missense 5/10 - 1
1-154407580-G-A c.755G>A p.R252Q Missense 5/10 - 2
1-154407583-T-G c.758T>G p.F253C Missense 5/10 - 1
1-154407588-C-T c.763C>T p.L255F Missense 5/10 - 1
1-154407589-T-G c.764T>G p.L255R Missense 5/10 - 3
1-154407590-C-T c.765C>T p.L255= Synonymous 5/10 - 1
1-154407593-A-G c.768A>G p.R256= Synonymous 5/10 - 1
1-154407595-A-T c.770A>T p.Y257F Missense 5/10 - 1
1-154407597-C-T c.772C>T p.R258W Missense 5/10 - 11
1-154407602-T-A c.777T>A p.A259= Synonymous 5/10 - 1
1-154407602-T-C c.777T>C p.A259= Synonymous 5/10 - 1
1-154407602-T-G c.777T>G p.A259= Synonymous 5/10 - 1
1-154407603-G-T c.778G>T p.E260* Nonsense 5/10 - 1
1-154407605-A-C c.780A>C p.E260D Missense 5/10 - 1
1-154407607-G-A c.782G>A p.R261Q Missense 5/10 - 2
1-154407610-C-G c.785C>G p.S262* Nonsense 5/10 - 1
1-154407610-C-T c.785C>T p.S262L Missense 5/10 - 1
1-154407614-G-A c.789G>A p.K263= Synonymous 5/10 - 1
1-154407615-AC-GA c.790_791delinsGA p.T264E Missense 5/10 - 1
1-154407615-A-T c.790A>T p.T264S Missense 5/10 - 1
1-154407713-T-C c.807+81T>C - IntronicSNV - 5/9 10
1-154408340-T-C c.808-105T>C - IntronicSNV - 5/9 17
1-154408340-T-G c.808-105T>G - IntronicSNV - 5/9 17
1-154408452-A-C c.815A>C p.D272A Missense 6/10 - 1
1-154408466-T-C c.829T>C p.C277R Missense 6/10 - 2
1-154408466-TG-GC c.829_830delinsGC p.C277A Missense 6/10 - 1
1-154408472-AT-GA c.835_836delinsGA p.I279D Missense 6/10 - 1
1-154408473-ATC-A c.836_837del p.I279Tfs*45 Frameshift 6/10 - 1
1-154408473-T-A c.836T>A p.I279N Missense 6/10 - 3
1-154408474-C-T c.837C>T p.I279= Synonymous 6/10 - 1
1-154408475-C-A c.838C>A p.H280N Missense 6/10 - 1
1-154408475-C-T c.838C>T p.H280Y Missense 6/10 - 2
1-154408476-A-C c.839A>C p.H280P Missense 6/10 - 1
1-154408477-C-T c.840C>T p.H280= Synonymous 6/10 - 1
1-154408478-G-A c.841G>A p.D281N Missense 6/10 - 3
1-154408480-C-T c.843C>T p.D281= Synonymous 6/10 - 1
1-154408481-G-T c.844G>T p.A282S Missense 6/10 - 2
1-154408485-G-T c.848G>T p.W283L Missense 6/10 - 1
1-154408491-G-A c.854G>A p.G285D Missense 6/10 - 1
1-154408493-C-A c.856C>A p.L286M Missense 6/10 - 1
1-154408493-C-G c.856C>G p.L286V Missense 6/10 - 2
1-154408496-A-C c.859A>C p.R287= Synonymous 6/10 - 1
1-154408498-G-A c.861G>A p.R287= Synonymous 6/10 - 2
1-154408501-C-G c.864C>G p.H288Q Missense 6/10 - 1
1-154408502-G-A c.865G>A p.V289M Missense 6/10 - 3
1-154408502-G-T c.865G>T p.V289L Missense 6/10 - 1
1-154408505-G-T c.868G>T p.V290L Missense 6/10 - 1
1-154408510-G-T c.873G>T p.Q291H Missense 6/10 - 1
1-154408512-T-C c.875T>C p.L292P Missense 6/10 - 1
1-154408514-C-T c.877C>T p.R293C Missense 6/10 - 1
1-154408516-T-C c.879T>C p.R293= Synonymous 6/10 - 1
1-154408520-C-T c.883C>T p.Q295* Nonsense 6/10 - 1
1-154408525-G-C c.888G>C p.E296D Missense 6/10 - 1
1-154408525-G-T c.888G>T p.E296D Missense 6/10 - 1
1-154408526-G-C c.889G>C p.E297Q Missense 6/10 - 1
1-154408529-T-C c.892T>C p.F298L Missense 6/10 - 1
1-154408531-C-T c.894C>T p.F298= Synonymous 6/10 - 6
1-154408532-G-A c.895G>A p.G299R Missense 6/10 - 1
1-154408532-G-T c.895G>T p.G299W Missense 6/10 - 2
1-154408537-A-C c.900A>C p.Q300H Missense 6/10 - 1
1-154408537-A-T c.900A>T p.Q300H Missense 6/10 - 1
1-154408538-G-A c.901G>A p.G301S Missense 6/10 - 6
1-154408539-G-A c.902G>A p.G301D Missense 6/10 - 1
1-154408541-G-A c.904G>A p.E302K Missense 6/10 - 1
1-154408541-G-T c.904G>T p.E302* Nonsense 6/10 - 1
1-154408549-C-T c.912C>T p.S304= Synonymous 6/10 - 2
1-154408550-G-A c.913G>A p.E305K Missense 6/10 - 1
1-154408552-G-C c.915G>C p.E305D Missense 6/10 - 1
1-154408552-G-T c.915G>T p.E305D Missense 6/10 - 1
1-154408559-C-T c.922C>T p.P308S Missense 6/10 - 1
1-154408560-C-T c.923C>T p.P308L UnclassifiedSNV 6/10 - 2
1-154408561-G-A c.924G>A p.P308= Synonymous 6/10 - 2
1-154408561-G-C c.924G>C p.P308= Synonymous 6/10 - 1
1-154408561-G-T c.924G>T p.P308= Synonymous 6/10 - 1
1-154408569-T-C c.932T>C p.M311T Missense 6/10 - 6
1-154408571-GGC-TGA c.934_936delinsTGA p.G312* Nonsense 6/10 - 1
1-154408574-A-G c.937A>G p.T313A Missense 6/10 - 1
1-154408575-C-T c.938C>T p.T313M Missense 6/10 - 1
1-154408576-G-A c.939G>A p.T313= Synonymous 6/10 - 3
1-154408578-C-T c.941C>T p.P314L Missense 6/10 - 1
1-154408583-A-G c.946A>G p.T316A Missense 6/10 - 2
1-154408584-C-G c.947C>G p.T316R Missense 6/10 - 1
1-154408584-C-T c.947C>T p.T316I Missense 6/10 - 1
1-154408588-T-C c.949+2T>C - IntronicSNV - 6/9 1
1-154408916-T-A c.949+330T>A - IntronicSNV - 6/9 2
1-154408975-TA-T c.949+394del - IntronicDeletion - 6/9 1
1-154409100-A-G c.949+514A>G - IntronicSNV - 6/9 4
1-154409434-A-G c.949+848A>G - IntronicSNV - 6/9 1
1-154409434-A-T c.949+848A>T - IntronicSNV - 6/9 1
1-154409730-G-A c.949+1144G>A - IntronicSNV - 6/9 4
1-154409774-C-T c.949+1188C>T - IntronicSNV - 6/9 1
1-154409893-AT-A c.949+1320del - IntronicDeletion - 6/9 1
1-154410028-C-T c.949+1442C>T - IntronicSNV - 6/9 1
1-154410477-A-G c.949+1891A>G - IntronicSNV - 6/9 1
1-154410482-G-A c.949+1896G>A - IntronicSNV - 6/9 1
1-154410490-T-C c.949+1904T>C - IntronicSNV - 6/9 1
1-154410955-C-A c.949+2369C>A - IntronicSNV - 6/9 11
1-154410955-C-T c.949+2369C>T - IntronicSNV - 6/9 11
1-154411419-A-C c.949+2833A>C - IntronicSNV - 6/9 11
1-154412759-C-T c.949+4173C>T - IntronicSNV - 6/9 1
1-154413904-G-A c.949+5318G>A - IntronicSNV - 6/9 1
1-154414037-C-T c.949+5451C>T - IntronicSNV - 6/9 5
1-154414086-A-G c.949+5500A>G - IntronicSNV - 6/9 11
1-154414296-C-T c.949+5710C>T - IntronicSNV - 6/9 4
1-154415396-C-A c.950-5205C>A - IntronicSNV - 6/9 6
1-154415396-C-T c.950-5205C>T - IntronicSNV - 6/9 6
1-154415675-G-T c.950-4926G>T - IntronicSNV - 6/9 2
1-154415777-A-G c.950-4824A>G - IntronicSNV - 6/9 18
1-154415848-C-G c.950-4753C>G - IntronicSNV - 6/9 1
1-154416805-C-T c.950-3796C>T - IntronicSNV - 6/9 2
1-154416935-G-A c.950-3666G>A - IntronicSNV - 6/9 5
1-154416969-C-T c.950-3632C>T - IntronicSNV - 6/9 5
1-154417044-A-C c.950-3557A>C - IntronicSNV - 6/9 3
1-154417044-A-G c.950-3557A>G - IntronicSNV - 6/9 3
1-154417179-G-A c.950-3422G>A - IntronicSNV - 6/9 1
1-154417179-G-C c.950-3422G>C - IntronicSNV - 6/9 1
1-154417187-C-T c.950-3414C>T - IntronicSNV - 6/9 1
1-154417829-C-T c.950-2772C>T - IntronicSNV - 6/9 5
1-154418088-T-A c.950-2513T>A - IntronicSNV - 6/9 1
1-154418088-T-C c.950-2513T>C - IntronicSNV - 6/9 1
1-154418415-T-C c.950-2186T>C - IntronicSNV - 6/9 8
1-154418749-C-T c.950-1852C>T - IntronicSNV - 6/9 6
1-154418879-C-T c.950-1722C>T - IntronicSNV - 6/9 53
1-154419843-A-G c.950-758A>G - IntronicSNV - 6/9 2
1-154419892-G-A c.950-709G>A - IntronicSNV - 6/9 12
1-154419982-T-C c.950-619T>C - IntronicSNV - 6/9 1
1-154419990-C-T c.950-611C>T - IntronicSNV - 6/9 1
1-154420087-G-A c.950-514G>A - IntronicSNV - 6/9 12
1-154420333-G-A c.950-268G>A - IntronicSNV - 6/9 3
1-154420402-G-C c.950-199G>C - IntronicSNV - 6/9 6
1-154420618-G-C c.967G>C p.A323P Missense 7/10 - 1
1-154420618-G-T c.967G>T p.A323S Missense 7/10 - 2
1-154420621-G-C c.970G>C p.E324Q Missense 7/10 - 7
1-154420623-G-A c.972G>A p.E324= Synonymous 7/10 - 1
1-154420626-C-T c.975C>T p.N325= Synonymous 7/10 - 1
1-154420627-G-A c.976G>A p.E326K Missense 7/10 - 4
1-154420628-A-T c.977A>T p.E326V Missense 7/10 - 1
1-154420632-G-A c.981G>A p.V327= Synonymous 7/10 - 1
1-154420632-G-C c.981G>C p.V327= Synonymous 7/10 - 1
1-154420632-G-GGCTATGGT c.981_982insGCTATGGT p.S328Afs*62 Frameshift 7/10 - 1
1-154420632-G-T c.981G>T p.V327= Synonymous 7/10 - 2
1-154420634-C-T c.983C>T p.S328F Missense 7/10 - 1
1-154420640-C-T c.989C>T p.P330L Missense 7/10 - 1
1-154420641-C-A c.990C>A p.P330= Synonymous 7/10 - 1
1-154420641-C-T c.990C>T p.P330= Synonymous 7/10 - 4
1-154420645-C-G c.994C>G p.Q332E Missense 7/10 - 2
1-154420759-G-A c.996+112G>A - IntronicSNV - 7/9 1
1-154420768-G-A c.996+121G>A - IntronicSNV - 7/9 1
1-154420778-T-C c.996+131T>C - IntronicSNV - 7/9 57
1-154421354-T-C c.996+707T>C - IntronicSNV - 7/9 3
1-154421521-G-A c.997-866G>A - IntronicSNV - 7/9 1
1-154421521-G-C c.997-866G>C - IntronicSNV - 7/9 1
1-154421530-T-C c.997-857T>C - IntronicSNV - 7/9 1
1-154422067-T-C c.997-320T>C - IntronicSNV - 7/9 68
1-154422387-G-C c.997G>C p.A333P Missense 8/10 - 3
1-154422396-A-T c.1006A>T p.T336S Missense 8/10 - 7
1-154422397-C-G c.1007C>G p.T336S Missense 8/10 - 4
1-154422401-T-C c.1011T>C p.N337= Synonymous 8/10 - 1
1-154422406-A-G c.1016A>G p.D339G Missense 8/10 - 1
1-154422407-C-T c.1017C>T p.D339= Synonymous 8/10 - 2
1-154422408-G-A c.1018G>A p.D340N Missense 8/10 - 4
1-154422415-A-G c.1025A>G p.N342S Missense 8/10 - 1
1-154422417-A-G c.1027A>G p.I343V Missense 8/10 - 2
1-154422417-A-T c.1027A>T p.I343F Missense 8/10 - 1
1-154422420-C-A c.1030C>A p.L344I Missense 8/10 - 3
1-154422426-AGA-CAT c.1036_1038delinsCAT p.R346H Missense 8/10 - 1
1-154422427-G-A c.1037G>A p.R346K Missense 8/10 - 2
1-154422427-G-C c.1037G>C p.R346T Missense 8/10 - 5
1-154422431-T-A c.1041T>A p.D347E Missense 8/10 - 1
1-154422431-T-G c.1041T>G p.D347E Missense 8/10 - 1
1-154422442-C-T c.1052C>T p.A351V Missense 8/10 - 6
1-154422452-C-A c.1062C>A p.L354= Synonymous 8/10 - 3
1-154422452-C-G c.1062C>G p.L354= Synonymous 8/10 - 4
1-154422452-C-T c.1062C>T p.L354= Synonymous 8/10 - 7
1-154422456-G-A c.1066G>A p.V356M Missense 8/10 - 2
1-154422457-G-A c.1066+1G>A - IntronicSNV - 8/9 1
1-154422490-C-T c.1066+34C>T - IntronicSNV - 8/9 1
1-154422513-G-T c.1066+57G>T - IntronicSNV - 8/9 1
1-154422619-T-TGTGTG c.1066+163_1066+164insGTGTG - IntronicInsertion - 8/9 1
1-154422619-T-TGTGTGTGTGTGTG c.1066+163_1066+164insGTGTGTGTGTGTG - IntronicInsertion - 8/9 1
1-154423485-G-T c.1066+1029G>T - IntronicSNV - 8/9 5
1-154423764-T-C c.1066+1308T>C - IntronicSNV - 8/9 2
1-154423909-A-G c.1066+1453A>G - IntronicSNV - 8/9 2
1-154423909-A-T c.1066+1453A>T - IntronicSNV - 8/9 2
1-154424497-C-T c.1066+2041C>T - IntronicSNV - 8/9 2
1-154425135-G-A c.1067-1829G>A - IntronicSNV - 8/9 2
1-154425456-G-A c.1067-1508G>A - IntronicSNV - 8/9 10
1-154425456-G-C c.1067-1508G>C - IntronicSNV - 8/9 10
1-154426097-A-G c.1067-867A>G - IntronicSNV - 8/9 6
1-154426190-G-A c.1067-774G>A - IntronicSNV - 8/9 1
1-154426264-C-G c.1067-700C>G - IntronicSNV - 8/9 121
1-154426264-C-T c.1067-700C>T - IntronicSNV - 8/9 121
1-154426947-T-A c.1067-17T>A - IntronicSNV - 8/9 12
1-154426968-A-G c.1071A>G p.Q357= Synonymous 9/10 - 1
1-154426970-A-C c.1073A>C p.D358A Missense 9/10 - 308
1-154426970-A-G c.1073A>G p.D358G Missense 9/10 - 2
1-154426970-A-T c.1073A>T p.D358V Missense 9/10 - 163
1-154426971-T-A c.1074T>A p.D358E Missense 9/10 - 1
1-154426971-T-G c.1074T>G p.D358E Missense 9/10 - 1
1-154426975-TC-AA c.1078_1079delinsAA p.S360N Missense 9/10 - 1
1-154426977-T-A c.1080T>A p.S360= Synonymous 9/10 - 1
1-154426982-T-C c.1085T>C p.V362A Missense 9/10 - 1
1-154426987-CT-GC c.1090_1091delinsGC p.L364A Missense 9/10 - 1
1-154426993-ACA-TAT c.1096_1098delinsTAT p.T366Y Missense 9/10 - 1
1-154426993-ACA-TGG c.1096_1098delinsTGG p.T366W Missense 9/10 - 1
1-154426993-A-T c.1096A>T p.T366S Missense 9/10 - 1
1-154426994-C-A c.1097C>A p.T366K Missense 9/10 - 1
1-154426996-T-A c.1099T>A p.F367I Missense 9/10 - 1
1-154426999-CT-GA c.1102_1103delinsGA p.L368E Missense 9/10 - 1
1-154426999-CT-GC c.1102_1103delinsGC p.L368A Missense 9/10 - 2
1-154427000-T-C c.1103T>C p.L368P Missense 9/10 - 1
1-154427005-G-A c.1108G>A p.A370T Missense 9/10 - 1
1-154427009-G-A c.1112G>A p.G371E Missense 9/10 - 1
1-154427014-AG-CC c.1117_1118delinsCC p.S373P Missense 9/10 - 2
1-154427020-G-C c.1123G>C p.A375P Missense 9/10 - 2
1-154427020-GCC-ATG c.1123_1125delinsATG p.A375M Missense 9/10 - 5
1-154427021-C-G c.1124C>G p.A375G Missense 9/10 - 1
1-154427022-C-T c.1125C>T p.A375= Synonymous 9/10 - 1
1-154427025-C-T c.1128C>T p.F376= Synonymous 9/10 - 2
1-154427026-G-A c.1129G>A p.G377R Missense 9/10 - 5
1-154427026-G-T c.1129G>T p.G377* Nonsense 9/10 - 2
1-154427027-G-C c.1130G>C p.G377A Missense 9/10 - 2
1-154427031-G-A c.1134G>A p.T378= Synonymous 9/10 - 1
1-154427031-G-C c.1134G>C p.T378= Synonymous 9/10 - 1
1-154427031-G-T c.1134G>T p.T378= Synonymous 9/10 - 1
1-154427032-C-G c.1135C>G p.L379V Missense 9/10 - 6
1-154427032-C-T c.1135C>T p.L379F Missense 9/10 - 7
1-154427044-G-T c.1147G>T p.A383S Missense 9/10 - 1
1-154427045-C-T c.1148C>T p.A383V Missense 9/10 - 3
1-154427050-G-A c.1153G>A p.V385I Missense 9/10 - 6
1-154427058-G-A c.1160+1G>A - IntronicSNV - 9/9 1
1-154427962-CTCTG-C c.1160+908_1160+911del - IntronicDeletion - 9/9 1
1-154428283-A-G c.1160+1226A>G - IntronicSNV - 9/9 17
1-154428505-C-A c.1160+1448C>A - IntronicSNV - 9/9 1
1-154430092-C-T c.1160+3035C>T - IntronicSNV - 9/9 22
1-154430798-C-G c.1160+3741C>G - IntronicSNV - 9/9 2
1-154430798-C-T c.1160+3741C>T - IntronicSNV - 9/9 2
1-154431405-C-A c.1160+4348C>A - IntronicSNV - 9/9 2
1-154432042-G-C c.1160+4985G>C - IntronicSNV - 9/9 5
1-154432420-T-C c.1161-5190T>C - IntronicSNV - 9/9 25
1-154432877-C-A c.1161-4733C>A - IntronicSNV - 9/9 2
1-154432877-C-G c.1161-4733C>G - IntronicSNV - 9/9 2
1-154432948-T-C c.1161-4662T>C - IntronicSNV - 9/9 3
1-154432957-A-G c.1161-4653A>G - IntronicSNV - 9/9 2
1-154432957-A-T c.1161-4653A>T - IntronicSNV - 9/9 2
1-154433407-G-A c.1161-4203G>A - IntronicSNV - 9/9 2
1-154433415-C-T c.1161-4195C>T - IntronicSNV - 9/9 2
1-154433466-G-A c.1161-4144G>A - IntronicSNV - 9/9 1
1-154433905-C-A c.1161-3705C>A - IntronicSNV - 9/9 2
1-154433911-C-T c.1161-3699C>T - IntronicSNV - 9/9 2
1-154434936-G-A c.1161-2674G>A - IntronicSNV - 9/9 1
1-154434936-G-C c.1161-2674G>C - IntronicSNV - 9/9 1
1-154435289-A-T c.1161-2321A>T - IntronicSNV - 9/9 1
1-154435293-T-A c.1161-2317T>A - IntronicSNV - 9/9 1
1-154435346-C-T c.1161-2264C>T - IntronicSNV - 9/9 1
1-154436195-C-T c.1161-1415C>T - IntronicSNV - 9/9 14
1-154436384-G-C c.1161-1226G>C - IntronicSNV - 9/9 7
1-154436404-C-G c.1161-1206C>G - IntronicSNV - 9/9 2
1-154437621-C-A c.1172C>A p.T391K Missense 10/10 - 1
1-154437621-C-T c.1172C>T p.T391M Missense 10/10 - 2
1-154437622-G-A c.1173G>A p.T391= Synonymous 10/10 - 1
1-154437622-G-T c.1173G>T p.T391= Synonymous 10/10 - 1
1-154437626-AA-CT c.1177_1178delinsCT p.K393L Missense 10/10 - 1
1-154437627-A-G c.1178A>G p.K393R Missense 10/10 - 2
1-154437628-G-A c.1179G>A p.K393= Synonymous 10/10 - 2
1-154437632-C-T c.1183C>T p.R395W Missense 10/10 - 2
1-154437633-G-A c.1184G>A p.R395Q Missense 10/10 - 2
1-154437633-G-T c.1184G>T p.R395L Missense 10/10 - 1
1-154437635-G-A c.1186G>A p.A396T Missense 10/10 - 3
1-154437646-A-C c.1197A>C p.E399D Missense 10/10 - 1
1-154437646-A-T c.1197A>T p.E399D Missense 10/10 - 1
1-154437651-A-T c.1202A>T p.K401M Missense 10/10 - 1
1-154437652-G-C c.1203G>C p.K401N Missense 10/10 - 2
1-154437652-G-T c.1203G>T p.K401N Missense 10/10 - 3
1-154437656-A-G c.1207A>G p.S403G Missense 10/10 - 1
1-154437659-A-G c.1210A>G p.M404V Missense 10/10 - 1
1-154437665-C-T c.1216C>T p.P406S Missense 10/10 - 1
1-154437666-C-G c.1217C>G p.P406R Missense 10/10 - 1
1-154437666-C-T c.1217C>T p.P406L Missense 10/10 - 2
1-154437667-G-A c.1218G>A p.P406= Synonymous 10/10 - 1
1-154437669-C-T c.1220C>T p.P407L Missense 10/10 - 1
1-154437679-G-T c.1230G>T p.L410F Missense 10/10 - 1
1-154437680-G-C c.1231G>C p.G411R Missense 10/10 - 1
1-154437685-G-T c.1236G>T p.Q412H Missense 10/10 - 1
1-154437686-C-G c.1237C>G p.L413V Missense 10/10 - 2
1-154437689-G-A c.1240G>A p.V414I Missense 10/10 - 1
1-154437690-T-C c.1241T>C p.V414A Missense 10/10 - 1
1-154437691-C-A c.1242C>A p.V414= Synonymous 10/10 - 1
1-154437691-C-G c.1242C>G p.V414= Synonymous 10/10 - 1
1-154437691-C-T c.1242C>T p.V414= Synonymous 10/10 - 1
1-154437693-C-G c.1244C>G p.P415R Missense 10/10 - 1
1-154437693-C-T c.1244C>T p.P415L Missense 10/10 - 4
1-154437694-G-A c.1245G>A p.P415= Synonymous 10/10 - 1
1-154437698-A-T c.1249A>T p.R417W Missense 10/10 - 1
1-154437704-C-T c.1255C>T p.R419* Nonsense 10/10 - 1
1-154437705-G-A c.1256G>A p.R419Q Missense 10/10 - 1
1-154437708-C-T c.1259C>T p.P420L Missense 10/10 - 1
1-154437709-C-A c.1260C>A p.P420= Synonymous 10/10 - 1
1-154437709-C-G c.1260C>G p.P420= Synonymous 10/10 - 1
1-154437709-C-T c.1260C>T p.P420= Synonymous 10/10 - 2
1-154437711-C-T c.1262C>T p.T421I Missense 10/10 - 1
1-154437719-C-T c.1270C>T p.L424F Missense 10/10 - 5
1-154437720-T-G c.1271T>G p.L424R Missense 10/10 - 1
1-154437726-C-T c.1277C>T p.P426L Missense 10/10 - 1
1-154437728-C-A c.1279C>A p.L427I Missense 10/10 - 1
1-154437728-C-G c.1279C>G p.L427V Missense 10/10 - 1
1-154437730-C-T c.1281C>T p.L427= Synonymous 10/10 - 1
1-154437731-A-G c.1282A>G p.I428V Missense 10/10 - 1
1-154437737-C-T c.1288C>T p.P430S Missense 10/10 - 1
1-154437738-C-T c.1289C>T p.P430L Missense 10/10 - 1
1-154437739-A-C c.1290A>C p.P430= Synonymous 10/10 - 1
1-154437739-A-G c.1290A>G p.P430= Synonymous 10/10 - 1
1-154437739-A-T c.1290A>T p.P430= Synonymous 10/10 - 1
1-154437740-C-T c.1291C>T p.P431S Missense 10/10 - 1
1-154437741-C-T c.1292C>T p.P431L Missense 10/10 - 3
1-154437748-C-T c.1299C>T p.S433= Synonymous 10/10 - 4
1-154437761-G-A c.1312G>A p.G438R Missense 10/10 - 1
1-154437761-G-C c.1312G>C p.G438R Missense 10/10 - 1
1-154437768-A-T c.1319A>T p.D440V Missense 10/10 - 1
1-154437771-A-G c.1322A>G p.N441S Missense 10/10 - 1
1-154437773-A-C c.1324A>C p.T442P Missense 10/10 - 2
1-154437773-AC-TG c.1324_1325delinsTG p.T442C Missense 10/10 - 1
1-154437775-C-T c.1326C>T p.T442= Synonymous 10/10 - 1
1-154437777-C-G c.1328C>G p.S443W Missense 10/10 - 1
1-154437777-C-T c.1328C>T p.S443L Missense 10/10 - 1
1-154437778-G-A c.1329G>A p.S443= Synonymous 10/10 - 2
1-154437778-G-C c.1329G>C p.S443= Synonymous 10/10 - 2
1-154437778-G-T c.1329G>T p.S443= Synonymous 10/10 - 3
1-154437785-A-C c.1336A>C p.N446H Missense 10/10 - 2
1-154437786-A-G c.1337A>G p.N446S Missense 10/10 - 3
1-154437787-C-A c.1338C>A p.N446K Missense 10/10 - 1
1-154437787-C-G c.1338C>G p.N446K Missense 10/10 - 1
1-154437789-G-T c.1340G>T p.R447L Missense 10/10 - 1
1-154437795-A-C c.1346A>C p.D449A Missense 10/10 - 1
1-154437800-AG-CA c.1351_1352delinsCA p.R451Q Missense 10/10 - 1
1-154437808-A-C c.1359A>C p.P453= Synonymous 10/10 - 1
1-154437808-A-G c.1359A>G p.P453= Synonymous 10/10 - 1
1-154437808-A-T c.1359A>T p.P453= Synonymous 10/10 - 1
1-154437809-CGG-TGT c.1360_1362delinsTGT p.R454C Missense 10/10 - 2
1-154437809-C-T c.1360C>T p.R454W Missense 10/10 - 2
1-154437810-GG-AT c.1361_1362delinsAT p.R454H Missense 10/10 - 1
1-154437813-G-A c.1364G>A p.S455N Missense 10/10 - 2
1-154437818-T-G c.1369T>G p.Y457D Missense 10/10 - 3
1-154437820-T-C c.1371T>C p.Y457= Synonymous 10/10 - 2
1-154437823-C-A c.1374C>A p.D458E Missense 10/10 - 6
1-154437823-C-G c.1374C>G p.D458E Missense 10/10 - 9
1-154437827-AG-CC c.1378_1379delinsCC p.S460P Missense 10/10 - 1
1-154437837-A-G c.1388A>G p.D463G Missense 10/10 - 1
1-154437841-C-T c.1392C>T p.Y464= Synonymous 10/10 - 1
1-154437848-C-T c.1399C>T p.P467S Missense 10/10 - 3
1-154437849-C-T c.1400C>T p.P467L Missense 10/10 - 1
1-154437896-T-A c.*40T>A - 3-UTRSNV 10/10 - 45
1-154437896-T-C c.*40T>C - 3-UTRSNV 10/10 - 45
1-154438012-A-T c.*156A>T - 3-UTRSNV 10/10 - 1
1-154438084-C-G c.*228C>G - 3-UTRSNV 10/10 - 23
1-154438084-C-T c.*228C>T - 3-UTRSNV 10/10 - 23
1-154438880-T-C c.*1024T>C - 3-UTRSNV 10/10 - 14
1-154439865-T-A c.*2009T>A - 3-UTRSNV 10/10 - 11
1-154441484-G-A c.*3628G>A - 3-UTRSNV 10/10 - 2