PRRT2 proline rich transmembrane protein 2

Annotation transcript: NM_145239.3

547 unique variant annotations were identified in 814 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
16-29824381-A-C c.6A>C p.A2= Synonymous 2/4 - 1
16-29824381-A-G c.6A>G p.A2= Synonymous 2/4 - 1
16-29824381-A-T c.6A>T p.A2= Synonymous 2/4 - 1
16-29824384-C-A c.9C>A p.A3= Synonymous 2/4 - 1
16-29824384-C-G c.9C>G p.A3= Synonymous 2/4 - 1
16-29824384-C-T c.9C>T p.A3= Synonymous 2/4 - 1
16-29824399-C-A c.24C>A p.I8= Synonymous 2/4 - 1
16-29824399-C-T c.24C>T p.I8= Synonymous 2/4 - 1
16-29824403-G-A c.28G>A p.E10K Missense 2/4 - 1
16-29824403-GA-TC c.28_29inv p.E10S Missense 2/4 - 1
16-29824403-G-T c.28G>T p.E10* Nonsense 2/4 - 1
16-29824404-A-C c.29A>C p.E10A Missense 2/4 - 3
16-29824405-G-C c.30G>C p.E10D Missense 2/4 - 1
16-29824405-G-T c.30G>T p.E10D Missense 2/4 - 1
16-29824409-AA-GC c.34_35delinsGC p.K12A Missense 2/4 - 1
16-29824409-AAG-TAT c.34_36delinsTAT p.K12Y Missense 2/4 - 1
16-29824409-AAG-TTT c.34_36delinsTTT p.K12F Missense 2/4 - 1
16-29824410-A-G c.35A>G p.K12R Missense 2/4 - 2
16-29824412-G-A c.37G>A p.G13R Missense 2/4 - 1
16-29824412-G-C c.37G>C p.G13R Missense 2/4 - 1
16-29824412-GGG-AGC c.37_39delinsAGC p.G13S Missense 2/4 - 1
16-29824413-G-C c.38G>C p.G13A Missense 2/4 - 1
16-29824413-GG-AC c.38_39delinsAC p.G13D Missense 2/4 - 2
16-29824413-G-T c.38G>T p.G13V Missense 2/4 - 1
16-29824419-A-C c.44A>C p.E15A Missense 2/4 - 4
16-29824421-GAG-TGT c.46_48delinsTGT p.E16C Missense 2/4 - 1
16-29824421-G-T c.46G>T p.E16* Nonsense 2/4 - 1
16-29824422-A-C c.47A>C p.E16A Missense 2/4 - 1
16-29824423-G-C c.48G>C p.E16D Missense 2/4 - 1
16-29824423-G-T c.48G>T p.E16D Missense 2/4 - 1
16-29824424-AG-GA c.49_50delinsGA p.S17D Missense 2/4 - 1
16-29824424-AG-GC c.49_50delinsGC p.S17A Missense 2/4 - 10
16-29824424-AGT-GAG c.49_51delinsGAG p.S17E Missense 2/4 - 2
16-29824424-A-T c.49A>T p.S17C Missense 2/4 - 2
16-29824425-G-A c.50G>A p.S17N Missense 2/4 - 21
16-29824427-C-A c.52C>A p.P18T Missense 2/4 - 1
16-29824428-C-T c.53C>T p.P18L Missense 2/4 - 1
16-29824430-AA-GC c.55_56delinsGC p.K19A Missense 2/4 - 7
16-29824430-AAG-TAT c.55_57delinsTAT p.K19Y Missense 2/4 - 1
16-29824431-A-C c.56A>C p.K19T Missense 2/4 - 1
16-29824431-A-G c.56A>G p.K19R Missense 2/4 - 1
16-29824431-A-T c.56A>T p.K19M Missense 2/4 - 1
16-29824436-CC-TA c.61_62delinsTA p.P21* Nonsense 2/4 - 1
16-29824436-C-G c.61C>G p.P21A Missense 2/4 - 1
16-29824436-C-T c.61C>T p.P21S Missense 2/4 - 1
16-29824438-A-C c.63A>C p.P21= Synonymous 2/4 - 1
16-29824438-A-G c.63A>G p.P21= Synonymous 2/4 - 1
16-29824438-A-T c.63A>T p.P21= Synonymous 2/4 - 1
16-29824440-G-C c.65G>C p.G22A Missense 2/4 - 1
16-29824442-G-A c.67G>A p.E23K Missense 2/4 - 8
16-29824442-GA-CT c.67_68delinsCT p.E23L Missense 2/4 - 1
16-29824443-A-C c.68A>C p.E23A Missense 2/4 - 1
16-29824446-GG-AC c.71_72delinsAC p.G24D Missense 2/4 - 1
16-29824446-G-T c.71G>T p.G24V Missense 2/4 - 1
16-29824449-C-T c.74C>T p.P25L Missense 2/4 - 1
16-29824457-T-C c.82T>C p.S28P Missense 2/4 - 1
16-29824457-TC-AA c.82_83delinsAA p.S28N Missense 2/4 - 4
16-29824457-TC-GA c.82_83inv p.S28D Missense 2/4 - 2
16-29824457-TCT-GAG c.82_84delinsGAG p.S28E Missense 2/4 - 1
16-29824457-T-G c.82T>G p.S28A Missense 2/4 - 7
16-29824460-G-A c.85G>A p.E29K Missense 2/4 - 1
16-29824461-A-C c.86A>C p.E29A Missense 2/4 - 1
16-29824462-A-G c.87A>G p.E29= Synonymous 2/4 - 1
16-29824463-G-C c.88G>C p.A30P Missense 2/4 - 15
16-29824463-GC-TT c.88_89delinsTT p.A30F Missense 2/4 - 1
16-29824464-C-A c.89C>A p.A30D Missense 2/4 - 2
16-29824464-CT-AG c.89_90inv p.A30E Missense 2/4 - 1
16-29824467-A-C c.92A>C p.E31A Missense 2/4 - 1
16-29824475-CC-GG c.100_101inv p.P34G Missense 2/4 - 1
16-29824478-CC-GG c.103_104inv p.P35G Missense 2/4 - 16
16-29824484-GT-TG c.109_110delinsTG p.V37C Missense 2/4 - 1
16-29824487-CTA-GAC c.112_114delinsGAC p.L38D Missense 2/4 - 1
16-29824488-T-C c.113T>C p.L38P Missense 2/4 - 1
16-29824492-A-C c.117A>C p.A39= Synonymous 2/4 - 2
16-29824492-A-G c.117A>G p.A39= Synonymous 2/4 - 2
16-29824492-A-T c.117A>T p.A39= Synonymous 2/4 - 2
16-29824502-GAC-TAA c.127_129delinsTAA p.D43* Nonsense 2/4 - 1
16-29824503-A-G c.128A>G p.D43G Missense 2/4 - 1
16-29824505-C-G c.130C>G p.Q44E Missense 2/4 - 1
16-29824503-ACCAG-A c.133_136del p.P45Rfs*44 Frameshift 2/4 - 1
16-29824508-C-T c.133C>T p.P45S Missense 2/4 - 1
16-29824511-G-A c.136G>A p.E46K Missense 2/4 - 9
16-29824514-GC-TG c.139_140delinsTG p.A47C Missense 2/4 - 1
16-29824514-GC-TT c.139_140delinsTT p.A47F Missense 2/4 - 2
16-29824515-C-A c.140C>A p.A47D Missense 2/4 - 2
16-29824518-C-G c.143C>G p.P48R Missense 2/4 - 1
16-29824520-C-T c.145C>T p.Q49* Nonsense 2/4 - 1
16-29824522-G-C c.147G>C p.Q49H Missense 2/4 - 1
16-29824522-G-T c.147G>T p.Q49H Missense 2/4 - 1
16-29824523-CC-AT c.148_149delinsAT p.P50I Missense 2/4 - 2
16-29824523-CC-GG c.148_149inv p.P50G Missense 2/4 - 2
16-29824527-G-A c.152G>A p.G51D Missense 2/4 - 2
16-29824535-ACC-GAG c.160_162delinsGAG p.T54E Missense 2/4 - 1
16-29824535-AC-TG c.160_161delinsTG p.T54C Missense 2/4 - 1
16-29824535-AC-TT c.160_161delinsTT p.T54F Missense 2/4 - 1
16-29824535-A-G c.160A>G p.T54A Missense 2/4 - 2
16-29824538-A-G c.163A>G p.T55A Missense 2/4 - 1
16-29824539-CT-GG c.164_165delinsGG p.T55R Missense 2/4 - 1
16-29824541-GCG-TGT c.166_168delinsTGT p.A56C Missense 2/4 - 1
16-29824542-C-A c.167C>A p.A56E Missense 2/4 - 3
16-29824542-C-G c.167C>G p.A56G Missense 2/4 - 1
16-29824544-G-A c.169G>A p.A57T Missense 2/4 - 1
16-29824544-GC-TG c.169_170delinsTG p.A57C Missense 2/4 - 1
16-29824546-C-A c.171C>A p.A57= Synonymous 2/4 - 1
16-29824546-C-G c.171C>G p.A57= Synonymous 2/4 - 1
16-29824546-C-T c.171C>T p.A57= Synonymous 2/4 - 1
16-29824547-C-A c.172C>A p.P58T Missense 2/4 - 1
16-29824553-GA-AT c.178_179delinsAT p.D60I Missense 2/4 - 1
16-29824553-GAC-AAG c.178_180delinsAAG p.D60K Missense 2/4 - 2
16-29824553-GA-TG c.178_179delinsTG p.D60C Missense 2/4 - 1
16-29824556-TC-GA c.181_182inv p.S61E Missense 2/4 - 2
16-29824556-T-G c.181T>G p.S61A Missense 2/4 - 1
16-29824558-A-C c.183A>C p.S61= Synonymous 2/4 - 1
16-29824558-A-G c.183A>G p.S61= Synonymous 2/4 - 1
16-29824558-A-T c.183A>T p.S61= Synonymous 2/4 - 1
16-29824562-CCC-GAG c.187_189delinsGAG p.P63E Missense 2/4 - 1
16-29824562-C-G c.187C>G p.P63A Missense 2/4 - 2
16-29824561-GCC-G c.188_189del p.P63Qfs*70 Frameshift 2/4 - 2
16-29824565-AA-GG c.190_191delinsGG p.K64G Missense 2/4 - 1
16-29824565-AAG-GAC c.190_192delinsGAC p.K64D Missense 2/4 - 1
16-29824568-GC-TG c.193_194delinsTG p.A65C Missense 2/4 - 1
16-29824569-C-A c.194C>A p.A65D Missense 2/4 - 1
16-29824570-T-A c.195T>A p.A65= Synonymous 2/4 - 2
16-29824570-T-C c.195T>C p.A65= Synonymous 2/4 - 2
16-29824570-T-G c.195T>G p.A65= Synonymous 2/4 - 2
16-29824575-T-C c.200T>C p.L67P Missense 2/4 - 2
16-29824575-T-G c.200T>G p.L67R Missense 2/4 - 1
16-29824578-CT-AG c.203_204inv p.A68E Missense 2/4 - 2
16-29824583-G-A c.208G>A p.E70K Missense 2/4 - 1
16-29824586-ACC-GAG c.211_213delinsGAG p.T71E Missense 2/4 - 1
16-29824586-A-G c.211A>G p.T71A Missense 2/4 - 1
16-29824589-ACA-GAC c.214_216delinsGAC p.T72D Missense 2/4 - 1
16-29824589-AC-GA c.214_215delinsGA p.T72E Missense 2/4 - 1
16-29824589-A-G c.214A>G p.T72A Missense 2/4 - 1
16-29824595-A-G c.220A>G p.T74A Missense 2/4 - 1
16-29824598-C-A c.223C>A p.P75T Missense 2/4 - 1
16-29824599-C-G c.224C>G p.P75R Missense 2/4 - 1
16-29824599-C-T c.224C>T p.P75L Missense 2/4 - 1
16-29824600-G-A c.225G>A p.P75= Synonymous 2/4 - 2
16-29824600-G-C c.225G>C p.P75= Synonymous 2/4 - 2
16-29824600-G-T c.225G>T p.P75= Synonymous 2/4 - 2
16-29824601-GC-TT c.226_227delinsTT p.A76F Missense 2/4 - 2
16-29824607-G-A c.232G>A p.A78T Missense 2/4 - 1
16-29824608-C-A c.233C>A p.A78D Missense 2/4 - 1
16-29824610-T-G c.235T>G p.S79A Missense 2/4 - 3
16-29824611-C-T c.236C>T p.S79L Missense 2/4 - 1
16-29824613-GA-AT c.238_239delinsAT p.E80I Missense 2/4 - 7
16-29824616-ACA-GAC c.241_243delinsGAC p.T81D Missense 2/4 - 1
16-29824616-A-G c.241A>G p.T81A Missense 2/4 - 2
16-29824620-C-A c.245C>A p.A82D Missense 2/4 - 1
16-29824621-C-A c.246C>A p.A82= Synonymous 2/4 - 1
16-29824621-C-G c.246C>G p.A82= Synonymous 2/4 - 1
16-29824621-C-T c.246C>T p.A82= Synonymous 2/4 - 1
16-29824626-CC-AG c.251_252delinsAG p.A84E Missense 2/4 - 1
16-29824627-C-A c.252C>A p.A84= Synonymous 2/4 - 1
16-29824627-C-G c.252C>G p.A84= Synonymous 2/4 - 1
16-29824627-C-T c.252C>T p.A84= Synonymous 2/4 - 1
16-29824628-ACA-GAC c.253_255delinsGAC p.T85D Missense 2/4 - 1
16-29824628-AC-GA c.253_254delinsGA p.T85E Missense 2/4 - 1
16-29824628-A-G c.253A>G p.T85A Missense 2/4 - 2
16-29824632-A-C c.257A>C p.D86A Missense 2/4 - 1
16-29824637-AGC-TGA c.262_264delinsTGA p.S88* Nonsense 2/4 - 3
16-29824638-AG-A c.263del p.S88Tfs*2 Frameshift 2/4 - 1
16-29824640-TTA-ATG c.265_267delinsATG p.L89M Missense 2/4 - 1
16-29824643-AG-CC c.268_269delinsCC p.S90P Missense 2/4 - 1
16-29824643-AGC-GAG c.268_270delinsGAG p.S90E Missense 2/4 - 1
16-29824643-AG-GC c.268_269delinsGC p.S90A Missense 2/4 - 1
16-29824646-C-G c.271C>G p.P91A Missense 2/4 - 2
16-29824644-GC-G c.272del p.P91Qfs*24 Frameshift 2/4 - 2
16-29824652-GGG-AGC c.277_279delinsAGC p.G93S Missense 2/4 - 1
16-29824653-G-C c.278G>C p.G93A Missense 2/4 - 99
16-29824656-A-T c.281A>T p.E94V Missense 2/4 - 1
16-29824659-C-G c.284C>G p.S95* Nonsense 2/4 - 1
16-29824664-GCC-ATG c.289_291delinsATG p.A97M Missense 2/4 - 1
16-29824665-C-A c.290C>A p.A97D Missense 2/4 - 2
16-29824668-A-G c.293A>G p.N98S Missense 2/4 - 1
16-29824669-C-T c.294C>T p.N98= Synonymous 2/4 - 1
16-29824670-T-C c.295T>C p.C99R Missense 2/4 - 1
16-29824670-TG-AA c.295_296delinsAA p.C99N Missense 2/4 - 1
16-29824670-TG-GC c.295_296delinsGC p.C99A Missense 2/4 - 1
16-29824673-A-G c.298A>G p.S100G Missense 2/4 - 8
16-29824673-AG-CC c.298_299delinsCC p.S100P Missense 2/4 - 14
16-29824673-AG-CT c.298_299inv p.S100L Missense 2/4 - 1
16-29824673-AG-GC c.298_299delinsGC p.S100A Missense 2/4 - 11
16-29824673-A-T c.298A>T p.S100C Missense 2/4 - 3
16-29824675-C-T c.300C>T p.S100= Synonymous 2/4 - 1
16-29824677-C-T c.302C>T p.P101L Missense 2/4 - 1
16-29824681-A-C c.306A>C p.E102D Missense 2/4 - 1
16-29824681-A-T c.306A>T p.E102D Missense 2/4 - 1
16-29824686-C-T c.311C>T p.P104L Missense 2/4 - 2
16-29824688-T-A c.313T>A p.C105S Missense 2/4 - 1
16-29824688-TG-CA c.313_314inv p.C105H Missense 2/4 - 1
16-29824689-G-C c.314G>C p.C105S Missense 2/4 - 1
16-29824697-AC-GA c.322_323delinsGA p.T108E Missense 2/4 - 1
16-29824697-A-G c.322A>G p.T108A Missense 2/4 - 4
16-29824696-AAC-A c.323_324del p.T108Sfs*25 Frameshift 2/4 - 2
16-29824694-GAAACAGTGTCC-G c.324_334del p.V109Rfs*21 Frameshift 2/4 - 1
16-29824703-TC-CG c.328_329delinsCG p.S110R Missense 2/4 - 1
16-29824703-TC-GA c.328_329inv p.S110D Missense 2/4 - 1
16-29824703-T-G c.328T>G p.S110A Missense 2/4 - 5
16-29824706-A-C c.331A>C p.K111Q Missense 2/4 - 1
16-29824708-A-C c.333A>C p.K111N Missense 2/4 - 1
16-29824708-A-T c.333A>T p.K111N Missense 2/4 - 1
16-29824710-C-T c.335C>T p.P112L Missense 2/4 - 1
16-29824712-G-C c.337G>C p.E113Q Missense 2/4 - 1
16-29824714-AGT-A c.341_342del p.V114Efs*19 Frameshift 2/4 - 1
16-29824716-T-C c.341T>C p.V114A Missense 2/4 - 2
16-29824718-AG-GA c.343_344delinsGA p.S115D Missense 2/4 - 2
16-29824718-AG-GC c.343_344delinsGC p.S115A Missense 2/4 - 2
16-29824719-GC-AG c.344_345delinsAG p.S115K Missense 2/4 - 1
16-29824722-A-G c.347A>G p.K116R Missense 2/4 - 2
16-29824724-G-A c.349G>A p.E117K Missense 2/4 - 1
16-29824725-A-C c.350A>C p.E117A Missense 2/4 - 1
16-29824725-A-G c.350A>G p.E117G Missense 2/4 - 1
16-29824727-G-A c.352G>A p.A118T Missense 2/4 - 1
16-29824728-CC-AG c.353_354delinsAG p.A118E Missense 2/4 - 1
16-29824728-C-G c.353C>G p.A118G Missense 2/4 - 7
16-29824730-A-G c.355A>G p.T119A Missense 2/4 - 1
16-29824734-C-A c.359C>A p.A120E Missense 2/4 - 4
16-29824734-CA-AC c.359_360delinsAC p.A120D Missense 2/4 - 1
16-29824739-CA-GC c.364_365delinsGC p.Q122A Missense 2/4 - 1
16-29824740-A-AG c.369dup p.S124Vfs*10 Frameshift 2/4 - 3
16-29824745-TC-GA c.370_371inv p.S124D Missense 2/4 - 1
16-29824745-T-G c.370T>G p.S124A Missense 2/4 - 5
16-29824748-AGG-CAT c.373_375delinsCAT p.R125H Missense 2/4 - 1
16-29824748-AGG-TGT c.373_375delinsTGT p.R125C Missense 2/4 - 2
16-29824748-A-T c.373A>T p.R125W Missense 2/4 - 1
16-29824749-GG-TC c.374_375delinsTC p.R125I Missense 2/4 - 1
16-29824756-G-A c.381G>A p.E127= Synonymous 2/4 - 1
16-29824757-TC-GA c.382_383inv p.S128D Missense 2/4 - 1
16-29824757-T-G c.382T>G p.S128A Missense 2/4 - 4
16-29824761-C-A c.386C>A p.A129E Missense 2/4 - 2
16-29824761-C-CA c.387dup p.A130Sfs*4 Frameshift 2/4 - 1
16-29824764-C-T c.389C>T p.A130V Missense 2/4 - 1
16-29824769-CC-AT c.394_395delinsAT p.P132I Missense 2/4 - 1
16-29824769-CC-GG c.394_395inv p.P132G Missense 2/4 - 1
16-29824769-CC-GT c.394_395delinsGT p.P132V Missense 2/4 - 1
16-29824769-CC-TT c.394_395delinsTT p.P132F Missense 2/4 - 1
16-29824769-CCT-TGG c.394_396delinsTGG p.P132W Missense 2/4 - 1
16-29824769-C-G c.394C>G p.P132A Missense 2/4 - 1
16-29824770-C-T c.395C>T p.P132L Missense 2/4 - 5
16-29824772-GA-AC c.397_398delinsAC p.E133T Missense 2/4 - 1
16-29824772-G-C c.397G>C p.E133Q Missense 2/4 - 3
16-29824786-G-C c.411G>C p.E137D Missense 2/4 - 2
16-29824786-G-T c.411G>T p.E137D Missense 2/4 - 2
16-29824787-C-G c.412C>G p.P138A Missense 2/4 - 8
16-29824793-C-G c.418C>G p.P140A Missense 2/4 - 1
16-29824800-C-T c.425C>T p.P142L Missense 2/4 - 1
16-29824805-C-A c.430C>A p.P144T Missense 2/4 - 1
16-29824808-C-G c.433C>G p.R145G Missense 2/4 - 10
16-29824808-CGG-ATC c.433_435delinsATC p.R145I Missense 2/4 - 1
16-29824808-C-T c.433C>T p.R145W Missense 2/4 - 6
16-29824809-G-A c.434G>A p.R145Q Missense 2/4 - 6
16-29824811-C-T c.436C>T p.P146S Missense 2/4 - 1
16-29824814-G-C c.439G>C p.D147H Missense 2/4 - 5
16-29824814-G-T c.439G>T p.D147Y Missense 2/4 - 1
16-29824817-T-G c.442T>G p.S148A Missense 2/4 - 2
16-29824824-C-T c.449C>T p.P150L Missense 2/4 - 1
16-29824825-T-A c.450T>A p.P150= Synonymous 2/4 - 1
16-29824825-T-C c.450T>C p.P150= Synonymous 2/4 - 1
16-29824825-T-G c.450T>G p.P150= Synonymous 2/4 - 1
16-29824826-AC-CT c.451_452delinsCT p.T151L Missense 2/4 - 1
16-29824827-C-A c.452C>A p.T151N Missense 2/4 - 1
16-29824826-AC-A c.456del p.K153Sfs*23 Frameshift 2/4 - 1
16-29824832-AA-GC c.457_458delinsGC p.K153A Missense 2/4 - 1
16-29824834-G-C c.459G>C p.K153N Missense 2/4 - 1
16-29824834-G-T c.459G>T p.K153N Missense 2/4 - 1
16-29824835-CC-GG c.460_461inv p.P154G Missense 2/4 - 2
16-29824835-C-T c.460C>T p.P154S Missense 2/4 - 1
16-29824842-T-G c.467T>G p.L156R Missense 2/4 - 1
16-29824850-G-C c.475G>C p.E159Q Missense 2/4 - 1
16-29824859-AC-GA c.484_485delinsGA p.T162D Missense 2/4 - 3
16-29824859-A-G c.484A>G p.T162A Missense 2/4 - 3
16-29824862-CA-GC c.487_488delinsGC p.Q163A Missense 2/4 - 1
16-29824862-C-T c.487C>T p.Q163* Nonsense 2/4 - 6
16-29824863-AG-A c.490del p.E164Rfs*12 Frameshift 2/4 - 1
16-29824865-G-A c.490G>A p.E164K Missense 2/4 - 1
16-29824866-A-C c.491A>C p.E164A Missense 2/4 - 1
16-29824869-A-G c.494A>G p.D165G Missense 2/4 - 1
16-29824874-ACC-GAG c.499_501delinsGAG p.T167E Missense 2/4 - 1
16-29824874-AC-GA c.499_500delinsGA p.T167D Missense 2/4 - 1
16-29824874-A-G c.499A>G p.T167A Missense 2/4 - 2
16-29824875-C-T c.500C>T p.T167I Missense 2/4 - 2
16-29824876-C-T c.501C>T p.T167= Synonymous 2/4 - 1
16-29824877-CCT-AAG c.502_504delinsAAG p.P168K Missense 2/4 - 1
16-29824887-T-TGC c.513_514insCG p.S172Rfs*5 Frameshift 2/4 - 1
16-29824884-TTCTG-T c.514_517del p.S172Rfs*3 Frameshift 2/4 - 4
16-29824889-TC-GA c.514_515inv p.S172D Missense 2/4 - 1
16-29824889-TCT-GAG c.514_516delinsGAG p.S172E Missense 2/4 - 3
16-29824889-T-G c.514T>G p.S172A Missense 2/4 - 4
16-29824892-G-T c.517G>T p.E173* Nonsense 2/4 - 2
16-29824895-AG-GA c.520_521delinsGA p.S174D Missense 2/4 - 1
16-29824895-AG-GC c.520_521delinsGC p.S174A Missense 2/4 - 3
16-29824895-AGT-GAG c.520_522delinsGAG p.S174E Missense 2/4 - 1
16-29824897-T-G c.522T>G p.S174R Missense 2/4 - 2
16-29824898-GTA-CAT c.523_525delinsCAT p.V175H Missense 2/4 - 1
16-29824904-G-A c.529G>A p.E177K Missense 2/4 - 1
16-29824904-GA-AG c.529_530delinsAG p.E177R Missense 2/4 - 1
16-29824905-A-T c.530A>T p.E177V Missense 2/4 - 1
16-29824907-AAAG-A c.532_534del p.K178del InFrameDeletion 2/4 - 1
16-29824907-AAG-GAC c.532_534delinsGAC p.K178D Missense 2/4 - 1
16-29824907-A-G c.532A>G p.K178E Missense 2/4 - 3
16-29824913-G-A c.538G>A p.E180K Missense 2/4 - 1
16-29824913-G-C c.538G>C p.E180Q Missense 2/4 - 1
16-29824914-A-G c.539A>G p.E180G Missense 2/4 - 9
16-29824914-A-T c.539A>T p.E180V Missense 2/4 - 1
16-29824919-GGG-AGC c.544_546delinsAGC p.G182S Missense 2/4 - 1
16-29824925-GT-TC c.550_551delinsTC p.V184S Missense 2/4 - 1
16-29824928-GTG-ATC c.553_555delinsATC p.V185I Missense 2/4 - 1
16-29824931-C-A c.556C>A p.P186T Missense 2/4 - 1
16-29824932-C-T c.557C>T p.P186L Missense 2/4 - 1
16-29824934-C-CT c.560dup p.Q188Afs*4 Frameshift 2/4 - 1
16-29824937-C-T c.562C>T p.Q188* Nonsense 2/4 - 1
16-29824947-A-AT c.573dup p.G192Wfs*8 Frameshift 2/4 - 4
16-29824949-G-T c.574G>T p.G192W Missense 2/4 - 1
16-29824950-GG-AC c.575_576delinsAC p.G192D Missense 2/4 - 1
16-29824952-G-T c.577G>T p.E193* Nonsense 2/4 - 1
16-29824956-A-C c.581A>C p.E194A Missense 2/4 - 2
16-29824968-CCT-C c.593_594del p.P198Rfs*26 Frameshift 2/4 - 2
16-29824968-C-T c.593C>T p.P198L Missense 2/4 - 4
16-29824970-G-A c.595G>A p.E199K Missense 2/4 - 1
16-29824970-G-T c.595G>T p.E199* Nonsense 2/4 - 3
16-29824973-CCTCA-C c.604_607del p.S202Hfs*26 Frameshift 2/4 - 3
16-29824979-TC-GA c.604_605inv p.S202E Missense 2/4 - 1
16-29824980-C-T c.605C>T p.S202L Missense 2/4 - 1
16-29824982-C-G c.607C>G p.P203A Missense 2/4 - 2
16-29824988-TC-GT c.613_614delinsGT p.S205V Missense 2/4 - 1
16-29824988-T-G c.613T>G p.S205A Missense 2/4 - 5
16-29824991-AA-GC c.616_617delinsGC p.K206A Missense 2/4 - 1
16-29824991-A-C c.616A>C p.K206Q Missense 2/4 - 7
16-29824992-A-G c.617A>G p.K206R Missense 2/4 - 1
16-29824993-A-C c.618A>C p.K206N Missense 2/4 - 1
16-29824993-A-T c.618A>T p.K206N Missense 2/4 - 1
16-29824996-A-C c.621A>C p.K207N Missense 2/4 - 1
16-29824996-A-T c.621A>T p.K207N Missense 2/4 - 1
16-29824997-TCC-GAG c.622_624delinsGAG p.S208E Missense 2/4 - 1
16-29824997-T-G c.622T>G p.S208A Missense 2/4 - 3
16-29824998-C-A c.623C>A p.S208Y Missense 2/4 - 1
16-29824998-C-G c.623C>G p.S208C Missense 2/4 - 1
16-29824997-TC-T c.629del p.P210Qfs*19 Frameshift 2/4 - 1
16-29824997-T-TC c.629dup p.A211Sfs*14 Frameshift 2/4 - 5
16-29825004-C-CA c.630dup p.A211Sfs*14 Frameshift 2/4 - 1
16-29825012-G-A c.637G>A p.G213R Missense 2/4 - 1
16-29825012-G-C c.637G>C p.G213R Missense 2/4 - 1
16-29825013-GG-AC c.638_639delinsAC p.G213D Missense 2/4 - 1
16-29825015-G-C c.640G>C p.A214P Missense 2/4 - 5
16-29825018-C-A c.643C>A p.P215T Missense 2/4 - 1
16-29825019-C-A c.644C>A p.P215H Missense 2/4 - 1
16-29825019-C-G c.644C>G p.P215R Missense 2/4 - 6
16-29825020-C-A c.645C>A p.P215= Synonymous 2/4 - 1
16-29825020-C-G c.645C>G p.P215= Synonymous 2/4 - 1
16-29825020-C-T c.645C>T p.P215= Synonymous 2/4 - 1
16-29825021-C-G c.646C>G p.P216A Missense 2/4 - 1
16-29825022-C-A c.647C>A p.P216H Missense 2/4 - 5
16-29825022-C-G c.647C>G p.P216R Missense 2/4 - 1
16-29825022-C-T c.647C>T p.P216L Missense 2/4 - 7
16-29825015-GC-G c.649del p.R217Efs*12 Frameshift 2/4 - 19
16-29825015-G-GC c.649dup p.R217Pfs*8 Frameshift 2/4 - 95
16-29825024-C-G c.649C>G p.R217G Missense 2/4 - 1
16-29825024-CG-AA c.649_650delinsAA p.R217K Missense 2/4 - 1
16-29825024-CG-GC c.649_650delinsGC p.R217A Missense 2/4 - 2
16-29825024-C-T c.649C>T p.R217* Nonsense 2/4 - 8
16-29825025-CG-C c.650del p.R217Qfs*12 Frameshift 2/4 - 2
16-29825025-G-A c.650G>A p.R217Q Missense 2/4 - 3
16-29825025-GAGTGCTGCAGCAGCTGGTTG-CAATGGTGCCACCACTGGGTTA c.650_670delinsCAATGGTGCCACCACTGGGTTA p.R217Pfs*8 Frameshift 2/4 - 1
16-29825025-G-C c.650G>C p.R217P Missense 2/4 - 4
16-29825025-G-T c.650G>T p.R217L Missense 2/4 - 1
16-29825039-C-G c.664C>G p.L222V Missense 2/4 - 1
16-29825039-CTG-ATC c.664_666delinsATC p.L222I Missense 2/4 - 1
16-29825039-CT-GC c.664_665delinsGC p.L222A Missense 2/4 - 1
16-29825039-CTG-TTT c.664_666delinsTTT p.L222F Missense 2/4 - 1
16-29825040-T-C c.665T>C p.L222P Missense 2/4 - 2
16-29825051-GAT-AAG c.676_678delinsAAG p.D226K Missense 2/4 - 1
16-29825054-CG-GA c.679_680delinsGA p.R227E Missense 2/4 - 1
16-29825054-C-T c.679C>T p.R227* Nonsense 2/4 - 1
16-29825060-AG-CT c.685_686inv p.R229L Missense 2/4 - 1
16-29825060-AG-GC c.685_686delinsGC p.R229A Missense 2/4 - 1
16-29825061-G-A c.686G>A p.R229K Missense 2/4 - 2
16-29825063-AG-CA c.688_689delinsCA p.R230Q Missense 2/4 - 2
16-29825063-AGG-TGT c.688_690delinsTGT p.R230C Missense 2/4 - 1
16-29825064-G-A c.689G>A p.R230K Missense 2/4 - 1
16-29825068-A-AC c.694dup p.H232Pfs*11 Frameshift 2/4 - 1
16-29825072-AG-GC c.697_698delinsGC p.S233A Missense 2/4 - 1
16-29825072-AGT-TGG c.697_699delinsTGG p.S233W Missense 2/4 - 1
16-29825084-G-A c.709G>A p.G237R Missense 2/4 - 1
16-29825085-GA-AC c.710_711delinsAC p.G237D Missense 2/4 - 1
16-29825087-TC-GA c.712_713inv p.S238D Missense 2/4 - 1
16-29825087-T-G c.712T>G p.S238A Missense 2/4 - 1
16-29825093-CG-AA c.718_719delinsAA p.R240K Missense 2/4 - 1
16-29825093-CGA-TGG c.718_720delinsTGG p.R240W Missense 2/4 - 1
16-29825093-C-T c.718C>T p.R240* Nonsense 2/4 - 6
16-29825094-G-A c.719G>A p.R240Q Missense 2/4 - 1
16-29825096-G-A c.721G>A p.G241S Missense 2/4 - 1
16-29825099-AG-GA c.724_725delinsGA p.S242D Missense 2/4 - 1
16-29825099-AG-GC c.724_725delinsGC p.S242A Missense 2/4 - 1
16-29825099-A-T c.724A>T p.S242C Missense 2/4 - 2
16-29825099-A-C c.724A>C p.S242R Missense 2/4 - 1
16-29825101-C-A c.726C>A p.S242R Missense 2/4 - 1
16-29825101-C-G c.726C>G p.S242R Missense 2/4 - 1
16-29825105-AG-GC c.730_731delinsGC p.S244A Missense 2/4 - 3
16-29825108-C-G c.733C>G p.R245G Missense 2/4 - 1
16-29825109-G-A c.734G>A p.R245H Missense 2/4 - 1
16-29825111-C-T c.736C>T p.H246Y Missense 2/4 - 1
16-29825114-CC-AT c.739_740delinsAT p.P247I Missense 2/4 - 1
16-29825114-C-T c.739C>T p.P247S Missense 2/4 - 1
16-29825117-AG-GC c.742_743delinsGC p.S248A Missense 2/4 - 2
16-29825117-AG-TT c.742_743delinsTT p.S248F Missense 2/4 - 1
16-29825118-G-C c.743G>C p.S248T Missense 2/4 - 1
16-29825120-T-C c.745T>C p.S249P Missense 2/4 - 1
16-29825120-TCC-CAA c.745_747delinsCAA p.S249Q Missense 2/4 - 1
16-29825120-T-G c.745T>G p.S249A Missense 2/4 - 5
16-29825121-C-G c.746C>G p.S249C Missense 2/4 - 1
16-29825122-C-A c.747C>A p.S249= Synonymous 2/4 - 1
16-29825122-C-G c.747C>G p.S249= Synonymous 2/4 - 1
16-29825122-C-T c.747C>T p.S249= Synonymous 2/4 - 1
16-29825126-T-C c.751T>C p.L251= Synonymous 2/4 - 3
16-29825128-G-A c.753G>A p.L251= Synonymous 2/4 - 1
16-29825136-C-T c.761C>T p.P254L Missense 2/4 - 1
16-29825139-G-A c.764G>A p.G255E Missense 2/4 - 1
16-29825145-A-G c.770A>G p.E257G Missense 2/4 - 1
16-29825147-G-A c.772G>A p.G258R Missense 2/4 - 1
16-29825147-G-C c.772G>C p.G258R Missense 2/4 - 1
16-29825148-G-A c.773G>A p.G258E Missense 2/4 - 1
16-29825145-A-AG c.776dup p.E260* Nonsense 2/4 - 2
16-29825153-G-T c.778G>T p.E260* Nonsense 2/4 - 1
16-29825159-ACC-GAG c.784_786delinsGAG p.T262E Missense 2/4 - 1
16-29825159-ACC-TAA c.784_786delinsTAA p.T262* Nonsense 2/4 - 1
16-29825159-AC-GT c.784_785inv p.T262V Missense 2/4 - 1
16-29825159-AC-TG c.784_785delinsTG p.T262C Missense 2/4 - 1
16-29825162-C-T c.787C>T p.Q263* Nonsense 2/4 - 1
16-29825165-AA-GC c.790_791delinsGC p.K264A Missense 2/4 - 1
16-29825166-A-G c.791A>G p.K264R Missense 2/4 - 1
16-29825168-C-T c.793C>T p.P265S Missense 2/4 - 1
16-29825169-C-T c.794C>T p.P265L Missense 2/4 - 1
16-29825171-CG-AA c.796_797delinsAA p.R266K Missense 2/4 - 1
16-29825171-CG-GA c.796_797delinsGA p.R266E Missense 2/4 - 1
16-29825171-C-T c.796C>T p.R266W Missense 2/4 - 5
16-29825172-G-A c.797G>A p.R266Q Missense 2/4 - 2
16-29825175-A-C c.800A>C p.D267A Missense 2/4 - 1
16-29825177-TA-GC c.802_803delinsGC p.Y268A Missense 2/4 - 1
16-29825181-T-C c.806T>C p.I269T Missense 2/4 - 1
16-29825186-C-T c.811C>T p.L271F Missense 2/4 - 1
16-29825190-C-T c.815C>T p.A272V Missense 2/4 - 1
16-29825198-TC-GA c.823_824inv p.S275D Missense 2/4 - 1
16-29825198-T-G c.823T>G p.S275A Missense 2/4 - 1
16-29825199-C-T c.824C>T p.S275F Missense 2/4 - 2
16-29825201-T-A c.826T>A p.C276S Missense 2/4 - 1
16-29825202-G-C c.827G>C p.C276S Missense 2/4 - 1
16-29825202-G-A c.827G>A p.C276Y Missense 2/4 - 1
16-29825203-C-T c.828C>T p.C276= Synonymous 2/4 - 1
16-29825207-T-A c.832T>A p.C278S Missense 2/4 - 1
16-29825208-G-C c.833G>C p.C278S Missense 2/4 - 1
16-29825210-C-T c.835C>T p.P279S Missense 2/4 - 1
16-29825211-C-T c.836C>T p.P279L Missense 2/4 - 3
16-29825216-T-A c.841T>A p.W281R Missense 2/4 - 1
16-29825216-T-C c.841T>C p.W281R Missense 2/4 - 4
16-29825218-G-T c.843G>T p.W281C Missense 2/4 - 1
16-29825222-GTC-TGG c.847_849delinsTGG p.V283W Missense 2/4 - 1
16-29825231-G-A c.856G>A p.V286M Missense 2/4 - 1
16-29825231-G-C c.856G>C p.V286L Missense 2/4 - 1
16-29825231-G-T c.856G>T p.V286L Missense 2/4 - 1
16-29825234-G-A c.859G>A p.A287T Missense 2/4 - 4
16-29825234-G-C c.859G>C p.A287P Missense 2/4 - 1
16-29825243-TA-GG c.868_869delinsGG p.Y290G Missense 2/4 - 1
16-29825244-A-G c.869A>G p.Y290C Missense 2/4 - 1
16-29825244-A-T c.869A>T p.Y290F Missense 2/4 - 3
16-29825247-C-T c.872C>T p.A291V Missense 2/4 - 3
16-29825252-A-G c.877A>G p.M293V Missense 2/4 - 1
16-29825252-AT-GC c.877_878delinsGC p.M293A Missense 2/4 - 1
16-29825255-G-T c.879+1G>T - IntronicSNV - 2/3 2
16-29825258-A-G c.879+4A>G - IntronicSNV - 2/3 1
16-29825259-G-A c.879+5G>A - IntronicSNV - 2/3 2
16-29825654-TC-CT c.880_881delinsCT p.S294L Missense 3/4 - 1
16-29825654-T-G c.880T>G p.S294A Missense 3/4 - 3
16-29825655-C-T c.881C>T p.S294F Missense 3/4 - 1
16-29825657-CG-GC c.883_884delinsGC p.R295A Missense 3/4 - 1
16-29825658-G-A c.884G>A p.R295Q Missense 3/4 - 2
16-29825660-AA-GC c.886_887delinsGC p.N296A Missense 3/4 - 1
16-29825660-A-C c.886A>C p.N296H Missense 3/4 - 1
16-29825662-C-T c.888C>T p.N296= Synonymous 3/4 - 2
16-29825663-AG-CC c.889_890delinsCC p.S297P Missense 3/4 - 1
16-29825663-AGC-TGA c.889_891delinsTGA p.S297* Nonsense 3/4 - 1
16-29825663-AG-GA c.889_890delinsGA p.S297D Missense 3/4 - 1
16-29825663-AG-GC c.889_890delinsGC p.S297A Missense 3/4 - 3
16-29825667-T-A c.893T>A p.L298Q Missense 3/4 - 1
16-29825667-T-C c.893T>C p.L298P Missense 3/4 - 1
16-29825673-A-AG c.904dup p.D302Gfs*39 Frameshift 3/4 - 2
16-29825678-G-A c.904G>A p.D302N Missense 3/4 - 1
16-29825681-G-A c.907G>A p.V303M Missense 3/4 - 1
16-29825684-G-A c.910G>A p.D304N Missense 3/4 - 1
16-29825687-G-A c.913G>A p.G305R Missense 3/4 - 8
16-29825687-G-T c.913G>T p.G305W Missense 3/4 - 6
16-29825688-G-A c.914G>A p.G305E Missense 3/4 - 1
16-29825690-G-A c.916G>A p.A306T Missense 3/4 - 3
16-29825690-G-C c.916G>C p.A306P Missense 3/4 - 1
16-29825691-C-A c.917C>A p.A306D Missense 3/4 - 1
16-29825696-C-G c.922C>G p.R308G Missense 3/4 - 1
16-29825696-CG-GC c.922_923delinsGC p.R308A Missense 3/4 - 1
16-29825696-CGT-ATG c.922_924delinsATG p.R308M Missense 3/4 - 1
16-29825696-C-T c.922C>T p.R308C Missense 3/4 - 5
16-29825705-CG-GA c.931_932delinsGA p.R311E Missense 3/4 - 1
16-29825705-CG-GC c.931_932delinsGC p.R311A Missense 3/4 - 1
16-29825705-C-T c.931C>T p.R311W Missense 3/4 - 1
16-29825706-G-A c.932G>A p.R311Q Missense 3/4 - 1
16-29825706-G-T c.932G>T p.R311L Missense 3/4 - 1
16-29825711-G-T c.937G>T p.A313S Missense 3/4 - 1
16-29825712-C-G c.938C>G p.A313G Missense 3/4 - 1
16-29825717-CT-GC c.943_944delinsGC p.L315A Missense 3/4 - 1
16-29825720-TT-GC c.946_947delinsGC p.L316A Missense 3/4 - 1
16-29825723-AG-GA c.949_950delinsGA p.S317D Missense 3/4 - 1
16-29825723-AG-GC c.949_950delinsGC p.S317A Missense 3/4 - 1
16-29825724-G-A c.950G>A p.S317N Missense 3/4 - 4
16-29825726-A-C c.952A>C p.I318L Missense 3/4 - 1
16-29825729-G-T c.955G>T p.V319L Missense 3/4 - 1
16-29825732-GC-AG c.958_959delinsAG p.A320R Missense 3/4 - 1
16-29825733-C-T c.959C>T p.A320V Missense 3/4 - 1
16-29825736-TG-T c.964del p.V322Wfs*15 Frameshift 3/4 - 2
16-29825741-G-A c.967G>A p.G323R Missense 3/4 - 1
16-29825742-G-A c.968G>A p.G323E Missense 3/4 - 1
16-29825742-G-C c.968G>C p.G323A Missense 3/4 - 1
16-29825744-G-A c.970G>A p.G324R Missense 3/4 - 1
16-29825739-TG-T c.971del p.G324Efs*13 Frameshift 3/4 - 2
16-29825745-G-A c.971G>A p.G324E Missense 3/4 - 2
16-29825745-GA-AC c.971_972delinsAC p.G324D Missense 3/4 - 2
16-29825745-G-GA c.972dup p.V325Sfs*16 Frameshift 3/4 - 1
16-29825746-GA-G c.972del p.V325Sfs*12 Frameshift 3/4 - 1
16-29825751-T-A c.977T>A p.L326H Missense 3/4 - 1
16-29825755-C-G c.981C>G p.I327M Missense 3/4 - 4
16-29825760-T-C c.986T>C p.I329T Missense 3/4 - 1
16-29825762-G-A c.988G>A p.A330T Missense 3/4 - 1
16-29825765-T-A c.991T>A p.S331T Missense 3/4 - 1
16-29825765-T-G c.991T>G p.S331A Missense 3/4 - 4
16-29825768-T-A c.994T>A p.C332S Missense 3/4 - 1
16-29825769-G-C c.995G>C p.C332S Missense 3/4 - 1
16-29825778-A-G c.1004A>G p.N335S Missense 3/4 - 1
16-29825783-GGC-G c.1011_1012del p.Y339* SpliceDonorDeletion 3/4 - 1
16-29825785-C-A c.1011C>A p.G337= Synonymous 3/4 - 1
16-29825785-C-G c.1011C>G p.G337= Synonymous 3/4 - 1
16-29825785-C-T c.1011C>T p.G337= Synonymous 3/4 - 4
16-29825888-C-T c.1013-61C>T - IntronicSNV - 3/3 1
16-29825949-TG-AC c.1013_1014delinsAC p.V338D Missense 4/4 - 1
16-29825957-T-C c.1021T>C p.*341Rext*28 Missense 4/4 - 1
16-29826365-G-A c.*406G>A - 3-UTRSNV 4/4 - 3
16-29826365-G-T c.*406G>T - 3-UTRSNV 4/4 - 3
16-29826538-T-A c.*579T>A - 3-UTRSNV 4/4 - 3
16-29826538-T-C c.*579T>C - 3-UTRSNV 4/4 - 3
16-29826538-T-G c.*579T>G - 3-UTRSNV 4/4 - 3