APC APC regulator of WNT signaling pathway

Annotation transcript: NM_000038.6

4219 unique variant annotations were identified in 2656 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
5-112073598-A-C c.-43A>C - 5_prime_UTR_variant 1/16 - 1
5-112073664-A-G c.-19+42A>G - intron_variant - 1/15 2
5-112073671-A-G c.-19+49A>G - intron_variant - 1/15 2
5-112073675-T-C c.-19+53T>C - intron_variant - 1/15 2
5-112073675-T-G c.-19+53T>G - intron_variant - 1/15 2
5-112073763-T-C c.-19+141T>C - intron_variant - 1/15 1
5-112073770-G-C c.-19+148G>C - intron_variant - 1/15 1
5-112074269-A-C c.-19+647A>C - intron_variant - 1/15 4
5-112074269-A-G c.-19+647A>G - intron_variant - 1/15 4
5-112078782-A-G c.-19+5160A>G - intron_variant - 1/15 4
5-112081924-A-G c.-19+8302A>G - intron_variant - 1/15 3
5-112086874-C-T c.-18-3696C>T - IntronicSNV - 1/15 1
5-112087327-T-G c.-18-3243T>G - IntronicSNV - 1/15 5
5-112089282-T-C c.-18-1288T>C - IntronicSNV - 1/15 1
5-112089480-T-C c.-18-1090T>C - IntronicSNV - 1/15 2
5-112090588-A-G c.1A>G p.M1? Missense 2/16 - 1
5-112090591-G-T c.4G>T p.A2S Missense 2/16 - 1
5-112090591-G-A c.4G>A p.A2T Missense 2/16 - 1
5-112090592-C-T c.5C>T p.A2V Missense 2/16 - 1
5-112090592-C-A c.5C>A p.A2D Missense 2/16 - 1
5-112090594-G-T c.7G>T p.A3S Missense 2/16 - 1
5-112090594-G-A c.7G>A p.A3T Missense 2/16 - 2
5-112090596-A-C c.9A>C p.A3= Synonymous 2/16 - 2
5-112090596-A-G c.9A>G p.A3= Synonymous 2/16 - 2
5-112090596-A-T c.9A>T p.A3= Synonymous 2/16 - 2
5-112090597-G-A c.10G>A p.A4T Missense 2/16 - 1
5-112090597-G-C c.10G>C p.A4P Missense 2/16 - 1
5-112090599-T-A c.12T>A p.A4= Synonymous 2/16 - 1
5-112090599-T-C c.12T>C p.A4= Synonymous 2/16 - 1
5-112090599-T-G c.12T>G p.A4= Synonymous 2/16 - 1
5-112090601-TC-T c.14del p.S5Yfs*6 Frameshift 2/16 - 1
5-112090605-T-C c.18T>C p.Y6= Synonymous 2/16 - 1
5-112090607-GA-G c.20del p.D7Vfs*4 Frameshift 2/16 - 1
5-112090609-C-T c.22C>T p.Q8* Nonsense 2/16 - 3
5-112090615-TT-GC c.28_29delinsGC p.L10A Missense 2/16 - 10
5-112090615-TT-CC c.28_29delinsCC p.L10P Missense 2/16 - 1
5-112090615-TT-AA c.28_29inv p.L10K Missense 2/16 - 1
5-112090615-T-G c.28T>G p.L10V Missense 2/16 - 1
5-112090616-T-A c.29T>A p.L10* Nonsense 2/16 - 1
5-112090616-T-G c.29T>G p.L10* Nonsense 2/16 - 1
5-112090619-A-G c.32A>G p.K11R Missense 2/16 - 8
5-112090619-A-T c.32A>T p.K11M Missense 2/16 - 2
5-112090621-CAA-TGG c.34_36delinsTGG p.Q12W Missense 2/16 - 6
5-112090621-CAA-TGT c.34_36delinsTGT p.Q12C Missense 2/16 - 1
5-112090621-CAA-GAC c.34_36delinsGAC p.Q12D Missense 2/16 - 1
5-112090621-C-A c.34C>A p.Q12K Missense 2/16 - 1
5-112090622-A-G c.35A>G p.Q12R Missense 2/16 - 1
5-112090623-A-T c.36A>T p.Q12H Missense 2/16 - 18
5-112090623-A-C c.36A>C p.Q12H Missense 2/16 - 18
5-112090624-GT-CC c.37_38delinsCC p.V13P Missense 2/16 - 1
5-112090627-GAG-TGT c.40_42delinsTGT p.E14C Missense 2/16 - 1
5-112090627-G-A c.40G>A p.E14K Missense 2/16 - 3
5-112090627-G-T c.40G>T p.E14* Nonsense 2/16 - 1
5-112090628-A-C c.41A>C p.E14A Missense 2/16 - 1
5-112090626-TGA-T c.41_42del p.E14Gfs*16 Frameshift 2/16 - 1
5-112090626-TGAG-T c.41_43del p.E14del InFrameDeletion 2/16 - 1
5-112090629-G-A c.42G>A p.E14= Synonymous 2/16 - 1
5-112090629-G-C c.42G>C p.E14D Missense 2/16 - 1
5-112090629-G-T c.42G>T p.E14D Missense 2/16 - 1
5-112090630-GCA-TGT c.43_45delinsTGT p.A15C Missense 2/16 - 2
5-112090630-GC-TA c.43_44delinsTA p.A15* Nonsense 2/16 - 1
5-112090630-G-T c.43G>T p.A15S Missense 2/16 - 2
5-112090631-CA-AC c.44_45delinsAC p.A15D Missense 2/16 - 3
5-112090631-C-A c.44C>A p.A15E Missense 2/16 - 1
5-112090631-C-T c.44C>T p.A15V Missense 2/16 - 1
5-112090632-A-G c.45A>G p.A15= Synonymous 2/16 - 2
5-112090632-A-C c.45A>C p.A15= Synonymous 2/16 - 1
5-112090632-A-T c.45A>T p.A15= Synonymous 2/16 - 1
5-112090633-CT-GA c.46_47delinsGA p.L16E Missense 2/16 - 1
5-112090636-A-C c.49A>C p.K17Q Missense 2/16 - 1
5-112090636-A-G c.49A>G p.K17E Missense 2/16 - 1
5-112090637-A-C c.50A>C p.K17T Missense 2/16 - 1
5-112090638-G-A c.51G>A p.K17= Synonymous 2/16 - 1
5-112090638-G-C c.51G>C p.K17N Missense 2/16 - 1
5-112090638-G-T c.51G>T p.K17N Missense 2/16 - 1
5-112090640-TG-GC c.53_54delinsGC p.M18S Missense 2/16 - 7
5-112090640-TGGA-T c.55_57del p.E19del InFrameDeletion 2/16 - 2
5-112090642-GAG-TAT c.55_57delinsTAT p.E19Y Missense 2/16 - 1
5-112090642-GA-AG c.55_56delinsAG p.E19R Missense 2/16 - 1
5-112090643-A-C c.56A>C p.E19A Missense 2/16 - 1
5-112090644-G-A c.57G>A p.E19= Synonymous 2/16 - 1
5-112090644-G-C c.57G>C p.E19D Missense 2/16 - 2
5-112090644-G-T c.57G>T p.E19D Missense 2/16 - 2
5-112090645-AAC-CAA c.58_60delinsCAA p.N20Q Missense 2/16 - 1
5-112090645-AAC-TAA c.58_60delinsTAA p.N20* Nonsense 2/16 - 1
5-112090647-C-G c.60C>G p.N20K Missense 2/16 - 1
5-112090647-C-A c.60C>A p.N20K Missense 2/16 - 1
5-112090648-TCA-CAT c.61_63delinsCAT p.S21H Missense 2/16 - 1
5-112090648-TCA-GAC c.61_63delinsGAC p.S21D Missense 2/16 - 2
5-112090648-TC-GG c.61_62delinsGG p.S21G Missense 2/16 - 2
5-112090648-TC-GA c.61_62inv p.S21E Missense 2/16 - 3
5-112090648-T-G c.61T>G p.S21A Missense 2/16 - 20
5-112090648-TCA-AAC c.61_63delinsAAC p.S21N Missense 2/16 - 1
5-112090649-CA-TT c.62_63delinsTT p.S21F Missense 2/16 - 1
5-112090649-CA-GT c.62_63delinsGT p.S21C Missense 2/16 - 3
5-112090649-C-G c.62C>G p.S21* Nonsense 2/16 - 2
5-112090650-A-C c.63A>C p.S21= Synonymous 2/16 - 2
5-112090650-A-T c.63A>T p.S21= Synonymous 2/16 - 2
5-112090650-A-G c.63A>G p.S21= Synonymous 2/16 - 2
5-112090651-AA-GC c.64_65delinsGC p.N22A Missense 2/16 - 6
5-112090652-A-C c.65A>C p.N22T Missense 2/16 - 1
5-112090654-CT-GC c.67_68delinsGC p.L23A Missense 2/16 - 5
5-112090657-CGA-TGT c.70_72delinsTGT p.R24C Missense 2/16 - 5
5-112090657-CG-GC c.70_71delinsGC p.R24A Missense 2/16 - 2
5-112090657-C-T c.70C>T p.R24* Nonsense 2/16 - 3
5-112090657-CGA-TGG c.70_72delinsTGG p.R24W Missense 2/16 - 1
5-112090658-G-T c.71G>T p.R24L Missense 2/16 - 1
5-112090658-G-A c.71G>A p.R24Q Missense 2/16 - 3
5-112090660-C-A c.73C>A p.Q25K Missense 2/16 - 1
5-112090663-G-A c.76G>A p.E26K Missense 2/16 - 1
5-112090664-A-C c.77A>C p.E26A Missense 2/16 - 1
5-112090665-G-C c.78G>C p.E26D Missense 2/16 - 1
5-112090665-G-T c.78G>T p.E26D Missense 2/16 - 1
5-112090666-CT-GC c.79_80delinsGC p.L27A Missense 2/16 - 6
5-112090669-GAA-TTT c.82_84delinsTTT p.E28F Missense 2/16 - 2
5-112090669-GAA-TGT c.82_84delinsTGT p.E28C Missense 2/16 - 2
5-112090670-A-C c.83A>C p.E28A Missense 2/16 - 2
5-112090671-A-C c.84A>C p.E28D Missense 2/16 - 2
5-112090671-A-T c.84A>T p.E28D Missense 2/16 - 2
5-112090672-GA-TG c.85_86delinsTG p.D29C Missense 2/16 - 1
5-112090672-G-A c.85G>A p.D29N Missense 2/16 - 1
5-112090672-G-C c.85G>C p.D29H Missense 2/16 - 1
5-112090673-A-C c.86A>C p.D29A Missense 2/16 - 2
5-112090674-T-C c.87T>C p.D29= Synonymous 2/16 - 1
5-112090675-AAT-GAG c.88_90delinsGAG p.N30E Missense 2/16 - 3
5-112090675-AA-GC c.88_89delinsGC p.N30A Missense 2/16 - 3
5-112090676-A-G c.89A>G p.N30S Missense 2/16 - 1
5-112090674-TA-T c.89del p.N30Ifs*15 Frameshift 2/16 - 1
5-112090677-T-C c.90T>C p.N30= Synonymous 2/16 - 1
5-112090678-T-A c.91T>A p.S31T Missense 2/16 - 1
5-112090678-TC-AA c.91_92delinsAA p.S31N Missense 2/16 - 1
5-112090678-T-G c.91T>G p.S31A Missense 2/16 - 1
5-112090678-T-C c.91T>C p.S31P Missense 2/16 - 1
5-112090681-A-C c.94A>C p.N32H Missense 2/16 - 2
5-112090681-AA-GC c.94_95delinsGC p.N32A Missense 2/16 - 1
5-112090682-A-G c.95A>G p.N32S Missense 2/16 - 5
5-112090684-CA-TG c.97_98inv p.H33C Missense 2/16 - 1
5-112090684-C-T c.97C>T p.H33Y Missense 2/16 - 1
5-112090685-A-T c.98A>T p.H33L Missense 2/16 - 7
5-112090685-A-C c.98A>C p.H33P Missense 2/16 - 3
5-112090686-T-A c.99T>A p.H33Q Missense 2/16 - 2
5-112090686-T-G c.99T>G p.H33Q Missense 2/16 - 2
5-112090687-CT-TA c.100_101delinsTA p.L34Y Missense 2/16 - 1
5-112090687-CTT-GAG c.100_102delinsGAG p.L34E Missense 2/16 - 1
5-112090687-C-G c.100C>G p.L34V Missense 2/16 - 2
5-112090689-T-G c.102T>G p.L34= Synonymous 2/16 - 1
5-112090689-T-A c.102T>A p.L34= Synonymous 2/16 - 1
5-112090689-T-C c.102T>C p.L34= Synonymous 2/16 - 1
5-112090690-A-T c.103A>T p.T35S Missense 2/16 - 1
5-112090690-A-G c.103A>G p.T35A Missense 2/16 - 2
5-112090691-CA-AC c.104_105delinsAC p.T35N Missense 2/16 - 1
5-112090693-AA-GC c.106_107delinsGC p.K36A Missense 2/16 - 2
5-112090693-A-G c.106A>G p.K36E Missense 2/16 - 1
5-112090694-AA-TG c.107_108delinsTG p.K36M Missense 2/16 - 1
5-112090696-CT-GC c.109_110delinsGC p.L37A Missense 2/16 - 2
5-112090696-C-G c.109C>G p.L37V Missense 2/16 - 1
5-112090699-G-T c.112G>T p.E38* Nonsense 2/16 - 1
5-112090699-GA-AG c.112_113delinsAG p.E38R Missense 2/16 - 1
5-112090699-G-A c.112G>A p.E38K Missense 2/16 - 1
5-112090700-A-C c.113A>C p.E38A Missense 2/16 - 2
5-112090702-A-G c.115A>G p.T39A Missense 2/16 - 4
5-112090702-A-C c.115A>C p.T39P Missense 2/16 - 1
5-112090705-G-C c.118G>C p.E40Q Missense 2/16 - 1
5-112090705-G-A c.118G>A p.E40K Missense 2/16 - 2
5-112090705-G-T c.118G>T p.E40* Nonsense 2/16 - 1
5-112090705-GA-TG c.118_119delinsTG p.E40W Missense 2/16 - 1
5-112090708-GCA-TGT c.121_123delinsTGT p.A41C Missense 2/16 - 2
5-112090708-G-A c.121G>A p.A41T Missense 2/16 - 1
5-112090708-G-C c.121G>C p.A41P Missense 2/16 - 2
5-112090708-GCA-AAC c.121_123delinsAAC p.A41N Missense 2/16 - 1
5-112090708-GCA-TTT c.121_123delinsTTT p.A41F Missense 2/16 - 2
5-112090709-C-G c.122C>G p.A41G Missense 2/16 - 2
5-112090709-CA-AC c.122_123delinsAC p.A41D Missense 2/16 - 3
5-112090709-C-A c.122C>A p.A41E Missense 2/16 - 1
5-112090711-T-C c.124T>C p.S42P Missense 2/16 - 3
5-112090712-C-G c.125C>G p.S42C Missense 2/16 - 1
5-112090714-A-T c.127A>T p.N43Y Missense 2/16 - 1
5-112090714-A-G c.127A>G p.N43D Missense 2/16 - 1
5-112090717-A-G c.130A>G p.M44V Missense 2/16 - 1
5-112090720-A-G c.133A>G p.K45E Missense 2/16 - 1
5-112090721-A-G c.134A>G p.K45R Missense 2/16 - 1
5-112090720-AAGGTATC-A c.135_135+6del - SpliceDonorDeletion 2/16 2/15 1
5-112090723-G-A c.135+1G>A - IntronicSNV - 2/15 1
5-112092057-A-G c.135+1335A>G - IntronicSNV - 2/15 1
5-112092058-A-C c.135+1336A>C - IntronicSNV - 2/15 1
5-112097351-A-G c.136-4672A>G - IntronicSNV - 2/15 10
5-112101793-C-A c.136-230C>A - IntronicSNV - 2/15 2
5-112101970-T-C c.136-53T>C - IntronicSNV - 2/15 2
5-112102023-G-A c.136G>A p.E46K Missense 3/16 - 2
5-112102023-G-T c.136G>T p.E46* Nonsense 3/16 - 1
5-112102026-G-T c.139G>T p.V47L Missense 3/16 - 1
5-112102026-G-A c.139G>A p.V47I Missense 3/16 - 1
5-112102027-T-C c.140T>C p.V47A Missense 3/16 - 2
5-112102030-T-G c.143T>G p.L48R Missense 3/16 - 1
5-112102032-AA-CC c.145_146delinsCC p.K49P Missense 3/16 - 1
5-112102032-A-G c.145A>G p.K49E Missense 3/16 - 1
5-112102032-AA-GC c.145_146delinsGC p.K49A Missense 3/16 - 1
5-112102033-A-G c.146A>G p.K49R Missense 3/16 - 5
5-112102033-A-C c.146A>C p.K49T Missense 3/16 - 1
5-112102031-TAAAC-T c.147_150del p.K49Nfs*20 Frameshift 3/16 - 1
5-112102034-A-C c.147A>C p.K49N Missense 3/16 - 1
5-112102034-A-T c.147A>T p.K49N Missense 3/16 - 1
5-112102035-CAA-TTT c.148_150delinsTTT p.Q50F Missense 3/16 - 1
5-112102035-C-G c.148C>G p.Q50E Missense 3/16 - 1
5-112102036-A-C c.149A>C p.Q50P Missense 3/16 - 1
5-112102036-A-G c.149A>G p.Q50R Missense 3/16 - 1
5-112102038-CTA-TGT c.151_153delinsTGT p.L51C Missense 3/16 - 1
5-112102041-C-G c.154C>G p.Q52E Missense 3/16 - 1
5-112102042-A-G c.155A>G p.Q52R Missense 3/16 - 2
5-112102043-A-G c.156A>G p.Q52= Synonymous 3/16 - 1
5-112102044-G-C c.157G>C p.G53R Missense 3/16 - 1
5-112102044-G-A c.157G>A p.G53R Missense 3/16 - 1
5-112102045-G-T c.158G>T p.G53V Missense 3/16 - 1
5-112102047-AG-GA c.160_161delinsGA p.S54D Missense 3/16 - 1
5-112102047-AG-GC c.160_161delinsGC p.S54A Missense 3/16 - 1
5-112102050-AT-TG c.163_164delinsTG p.I55C Missense 3/16 - 1
5-112102056-GA-TG c.169_170delinsTG p.D57C Missense 3/16 - 1
5-112102062-GC-TT c.175_176delinsTT p.A59F Missense 3/16 - 3
5-112102062-GCT-TAA c.175_177delinsTAA p.A59* Nonsense 3/16 - 1
5-112102062-G-A c.175G>A p.A59T Missense 3/16 - 1
5-112102062-GC-TG c.175_176delinsTG p.A59C Missense 3/16 - 1
5-112102063-C-G c.176C>G p.A59G Missense 3/16 - 2
5-112102063-CT-AG c.176_177inv p.A59E Missense 3/16 - 2
5-112102063-C-A c.176C>A p.A59D Missense 3/16 - 2
5-112102064-T-A c.177T>A p.A59= Synonymous 3/16 - 2
5-112102064-T-C c.177T>C p.A59= Synonymous 3/16 - 2
5-112102064-T-G c.177T>G p.A59= Synonymous 3/16 - 2
5-112102065-AT-GC c.178_179delinsGC p.M60A Missense 3/16 - 1
5-112102067-G-C c.180G>C p.M60I Missense 3/16 - 1
5-112102067-G-A c.180G>A p.M60I Missense 3/16 - 1
5-112102067-G-T c.180G>T p.M60I Missense 3/16 - 1
5-112102068-GC-TT c.181_182delinsTT p.A61F Missense 3/16 - 2
5-112102068-GC-TG c.181_182delinsTG p.A61C Missense 3/16 - 2
5-112102068-GC-CA c.181_182delinsCA p.A61H Missense 3/16 - 1
5-112102069-C-A c.182C>A p.A61D Missense 3/16 - 6
5-112102069-C-G c.182C>G p.A61G Missense 3/16 - 3
5-112102069-C-T c.182C>T p.A61V Missense 3/16 - 1
5-112102069-CT-AG c.182_183inv p.A61E Missense 3/16 - 2
5-112102069-GCTTCTTCTGGACAGATTGATTT-G c.182_203del p.A61Dfs*2 Frameshift 3/16 - 1
5-112102070-T-A c.183T>A p.A61= Synonymous 3/16 - 1
5-112102070-T-C c.183T>C p.A61= Synonymous 3/16 - 1
5-112102070-T-G c.183T>G p.A61= Synonymous 3/16 - 1
5-112102071-TC-AA c.184_185delinsAA p.S62N Missense 3/16 - 1
5-112102071-T-G c.184T>G p.S62A Missense 3/16 - 4
5-112102071-TC-GA c.184_185inv p.S62D Missense 3/16 - 1
5-112102074-TC-CG c.187_188delinsCG p.S63R Missense 3/16 - 2
5-112102074-T-G c.187T>G p.S63A Missense 3/16 - 1
5-112102072-CT-C c.187del p.S63Lfs*7 Frameshift 3/16 - 1
5-112102074-TC-CT c.187_188delinsCT p.S63L Missense 3/16 - 1
5-112102074-T-C c.187T>C p.S63P Missense 3/16 - 1
5-112102074-TCT-AAG c.187_189delinsAAG p.S63K Missense 3/16 - 1
5-112102075-C-G c.188C>G p.S63C Missense 3/16 - 1
5-112102077-GG-CT c.190_191delinsCT p.G64L Missense 3/16 - 1
5-112102077-G-A c.190G>A p.G64R Missense 3/16 - 1
5-112102078-G-T c.191G>T p.G64V Missense 3/16 - 1
5-112102080-C-A c.193C>A p.Q65K Missense 3/16 - 1
5-112102080-CA-GC c.193_194delinsGC p.Q65A Missense 3/16 - 1
5-112102080-C-G c.193C>G p.Q65E Missense 3/16 - 2
5-112102081-A-G c.194A>G p.Q65R Missense 3/16 - 1
5-112102086-GAT-TAA c.199_201delinsTAA p.D67* Nonsense 3/16 - 1
5-112102086-GA-CG c.199_200delinsCG p.D67R Missense 3/16 - 1
5-112102086-G-T c.199G>T p.D67Y Missense 3/16 - 1
5-112102086-GA-TT c.199_200delinsTT p.D67F Missense 3/16 - 1
5-112102086-G-A c.199G>A p.D67N Missense 3/16 - 1
5-112102087-A-C c.200A>C p.D67A Missense 3/16 - 1
5-112102087-A-G c.200A>G p.D67G Missense 3/16 - 1
5-112102088-T-C c.201T>C p.D67= Synonymous 3/16 - 1
5-112102089-TT-CC c.202_203delinsCC p.L68P Missense 3/16 - 2
5-112102089-T-A c.202T>A p.L68I Missense 3/16 - 1
5-112102087-AT-A c.203del p.L68Yfs*2 Frameshift 3/16 - 1
5-112102092-TT-GC c.205_206delinsGC p.L69A Missense 3/16 - 1
5-112102094-A-T c.207A>T p.L69F Missense 3/16 - 1
5-112102094-A-C c.207A>C p.L69F Missense 3/16 - 1
5-112102095-GA-AG c.208_209delinsAG p.E70R Missense 3/16 - 1
5-112102095-G-A c.208G>A p.E70K Missense 3/16 - 1
5-112102095-GAG-TTT c.208_210delinsTTT p.E70F Missense 3/16 - 1
5-112102095-GAG-TGT c.208_210delinsTGT p.E70C Missense 3/16 - 1
5-112102096-A-C c.209A>C p.E70A Missense 3/16 - 3
5-112102096-A-G c.209A>G p.E70G Missense 3/16 - 1
5-112102097-G-A c.210G>A p.E70= Synonymous 3/16 - 1
5-112102097-G-C c.210G>C p.E70D Missense 3/16 - 1
5-112102097-G-T c.210G>T p.E70D Missense 3/16 - 1
5-112102098-CG-TA c.211_212delinsTA p.R71Y Missense 3/16 - 1
5-112102098-C-T c.211C>T p.R71C Missense 3/16 - 1
5-112102099-G-A c.212G>A p.R71H Missense 3/16 - 1
5-112102101-CT-GG c.214_215delinsGG p.L72G Missense 3/16 - 2
5-112102101-C-T c.214C>T p.L72F Missense 3/16 - 1
5-112102102-TT-AA c.215_216inv p.L72Q Missense 3/16 - 1
5-112102105-A-G c.218A>G p.K73R Missense 3/16 - 2
5-112102107-G-T c.220G>T p.E74* Nonsense 3/16 - 1
5-112102111-G-A c.220+4G>A - IntronicSNV - 3/15 1
5-112102142-T-A c.220+35T>A - IntronicSNV - 3/15 1
5-112102147-T-C c.220+40T>C - IntronicSNV - 3/15 1
5-112102157-A-C c.220+50A>C - IntronicSNV - 3/15 1
5-112102857-G-A c.221-29G>A - IntronicSNV - 3/15 1
5-112102857-G-C c.221-29G>C - IntronicSNV - 3/15 1
5-112102859-A-C c.221-27A>C - IntronicSNV - 3/15 1
5-112102859-A-G c.221-27A>G - IntronicSNV - 3/15 1
5-112102886-A-C c.221A>C p.E74A Missense 4/16 - 1
5-112102886-A-G c.221A>G p.E74G Missense 4/16 - 1
5-112102888-C-G c.223C>G p.L75V Missense 4/16 - 1
5-112102888-C-A c.223C>A p.L75I Missense 4/16 - 1
5-112102888-C-T c.223C>T p.L75F Missense 4/16 - 1
5-112102891-A-C c.226A>C p.N76H Missense 4/16 - 1
5-112102895-T-G c.230T>G p.L77* Nonsense 4/16 - 1
5-112102897-GA-TT c.232_233delinsTT p.D78F Missense 4/16 - 2
5-112102897-G-A c.232G>A p.D78N Missense 4/16 - 2
5-112102894-TTAGA-T c.233_236del p.D78Afs*7 Frameshift 4/16 - 1
5-112102898-A-C c.233A>C p.D78A Missense 4/16 - 1
5-112102900-A-G c.235A>G p.S79G Missense 4/16 - 1
5-112102900-AG-GC c.235_236delinsGC p.S79A Missense 4/16 - 3
5-112102900-A-T c.235A>T p.S79C Missense 4/16 - 1
5-112102902-C-A c.237C>A p.S79R Missense 4/16 - 1
5-112102903-A-G c.238A>G p.S80G Missense 4/16 - 1
5-112102906-AA-GC c.241_242delinsGC p.N81A Missense 4/16 - 1
5-112102908-T-C c.243T>C p.N81= Synonymous 4/16 - 1
5-112102909-TT-GC c.244_245delinsGC p.F82A Missense 4/16 - 2
5-112102909-TT-CA c.244_245delinsCA p.F82H Missense 4/16 - 1
5-112102913-C-T c.248C>T p.P83L Missense 4/16 - 1
5-112102916-G-A c.251G>A p.G84E Missense 4/16 - 1
5-112102919-TA-AC c.254_255delinsAC p.V85D Missense 4/16 - 1
5-112102920-A-C c.255A>C p.V85= Synonymous 4/16 - 1
5-112102920-A-G c.255A>G p.V85= Synonymous 4/16 - 1
5-112102920-A-T c.255A>T p.V85= Synonymous 4/16 - 1
5-112102921-AA-GC c.256_257delinsGC p.K86A Missense 4/16 - 1
5-112102921-A-T c.256A>T p.K86* Nonsense 4/16 - 1
5-112102919-TAA-T c.257_258del p.K86Tfs*52 Frameshift 4/16 - 1
5-112102922-A-T c.257A>T p.K86I Missense 4/16 - 1
5-112102927-CG-AA c.262_263delinsAA p.R88K Missense 4/16 - 2
5-112102927-CG-GC c.262_263delinsGC p.R88A Missense 4/16 - 1
5-112102927-C-T c.262C>T p.R88W Missense 4/16 - 1
5-112102930-T-G c.265T>G p.S89A Missense 4/16 - 1
5-112102930-TC-AG c.265_266delinsAG p.S89R Missense 4/16 - 1
5-112102931-C-G c.266C>G p.S89* Nonsense 4/16 - 2
5-112102931-C-A c.266C>A p.S89* Nonsense 4/16 - 1
5-112102933-AA-GC c.268_269delinsGC p.K90A Missense 4/16 - 1
5-112102934-A-G c.269A>G p.K90R Missense 4/16 - 1
5-112102935-A-C c.270A>C p.K90N Missense 4/16 - 1
5-112102935-A-T c.270A>T p.K90N Missense 4/16 - 1
5-112102937-T-C c.272T>C p.M91T Missense 4/16 - 1
5-112102939-TCC-GAG c.274_276delinsGAG p.S92E Missense 4/16 - 1
5-112102939-T-A c.274T>A p.S92T Missense 4/16 - 1
5-112102940-C-G c.275C>G p.S92C Missense 4/16 - 2
5-112102941-C-T c.276C>T p.S92= Synonymous 4/16 - 1
5-112102941-C-G c.276C>G p.S92= Synonymous 4/16 - 1
5-112102941-C-A c.276C>A p.S92= Synonymous 4/16 - 1
5-112102941-CCT-C c.278_279del p.L93Pfs*45 Frameshift 4/16 - 1
5-112102945-CG-GC c.280_281delinsGC p.R94A Missense 4/16 - 1
5-112102946-G-A c.281G>A p.R94H Missense 4/16 - 2
5-112102948-TC-AA c.283_284delinsAA p.S95N Missense 4/16 - 1
5-112102950-T-G c.285T>G p.S95= Synonymous 4/16 - 1
5-112102950-T-C c.285T>C p.S95= Synonymous 4/16 - 1
5-112102950-T-A c.285T>A p.S95= Synonymous 4/16 - 1
5-112102951-TAT-AAG c.286_288delinsAAG p.Y96K Missense 4/16 - 1
5-112102951-TA-GC c.286_287delinsGC p.Y96A Missense 4/16 - 1
5-112102953-T-A c.288T>A p.Y96* Nonsense 4/16 - 1
5-112102953-T-TCC c.288_289insCC p.G97Pfs*29 Frameshift 4/16 - 1
5-112102954-G-C c.289G>C p.G97R Missense 4/16 - 1
5-112102954-G-A c.289G>A p.G97R Missense 4/16 - 6
5-112102954-G-T c.289G>T p.G97* Nonsense 4/16 - 1
5-112102955-GA-AC c.290_291delinsAC p.G97D Missense 4/16 - 1
5-112102955-G-C c.290G>C p.G97A Missense 4/16 - 1
5-112102957-AG-TT c.292_293delinsTT p.S98F Missense 4/16 - 1
5-112102960-C-T c.295C>T p.R99W Missense 4/16 - 10
5-112102960-C-A c.295C>A p.R99= Synonymous 4/16 - 3
5-112102960-CG-GA c.295_296delinsGA p.R99E Missense 4/16 - 1
5-112102960-CGG-AGC c.295_297delinsAGC p.R99S Missense 4/16 - 1
5-112102963-G-T c.298G>T p.E100* Nonsense 4/16 - 1
5-112102965-A-C c.300A>C p.E100D Missense 4/16 - 1
5-112102965-A-T c.300A>T p.E100D Missense 4/16 - 1
5-112102966-GGA-TGG c.301_303delinsTGG p.G101W Missense 4/16 - 1
5-112102967-GA-AC c.302_303delinsAC p.G101D Missense 4/16 - 1
5-112102967-G-A c.302G>A p.G101E Missense 4/16 - 1
5-112102969-T-G c.304T>G p.S102A Missense 4/16 - 4
5-112102969-T-C c.304T>C p.S102P Missense 4/16 - 1
5-112102969-T-A c.304T>A p.S102T Missense 4/16 - 1
5-112102970-C-A c.305C>A p.S102Y Missense 4/16 - 1
5-112102973-TA-AC c.308_309delinsAC p.V103D Missense 4/16 - 1
5-112102973-T-G c.308T>G p.V103G Missense 4/16 - 1
5-112102975-T-C c.310T>C p.S104P Missense 4/16 - 1
5-112102975-T-G c.310T>G p.S104A Missense 4/16 - 1
5-112102975-TC-GA c.310_311inv p.S104E Missense 4/16 - 1
5-112102976-C-G c.311C>G p.S104* Nonsense 4/16 - 1
5-112102978-A-G c.313A>G p.S105G Missense 4/16 - 1
5-112102978-AG-GC c.313_314delinsGC p.S105A Missense 4/16 - 1
5-112102981-C-T c.316C>T p.R106C Missense 4/16 - 1
5-112102981-CGT-TGG c.316_318delinsTGG p.R106W Missense 4/16 - 1
5-112102981-CG-GC c.316_317delinsGC p.R106A Missense 4/16 - 1
5-112102981-C-A c.316C>A p.R106S Missense 4/16 - 1
5-112102981-C-G c.316C>G p.R106G Missense 4/16 - 1
5-112102982-GT-AA c.317_318delinsAA p.R106Q Missense 4/16 - 1
5-112102982-G-A c.317G>A p.R106H Missense 4/16 - 1
5-112102984-TC-GG c.319_320delinsGG p.S107G Missense 4/16 - 1
5-112102990-G-A c.325G>A p.E109K Missense 4/16 - 2
5-112102990-G-T c.325G>T p.E109* Nonsense 4/16 - 2
5-112102993-TG-GC c.328_329delinsGC p.C110A Missense 4/16 - 3
5-112102993-TG-AC c.328_329delinsAC p.C110T Missense 4/16 - 1
5-112102993-T-A c.328T>A p.C110S Missense 4/16 - 1
5-112102994-G-C c.329G>C p.C110S Missense 4/16 - 1
5-112102994-G-T c.329G>T p.C110F Missense 4/16 - 1
5-112102995-C-G c.330C>G p.C110W Missense 4/16 - 1
5-112102996-A-G c.331A>G p.S111G Missense 4/16 - 1
5-112102996-AG-GC c.331_332delinsGC p.S111A Missense 4/16 - 1
5-112102999-C-G c.334C>G p.P112A Missense 4/16 - 3
5-112102999-C-T c.334C>T p.P112S Missense 4/16 - 2
5-112103000-C-CT c.336dup p.V113Cfs*26 Frameshift 4/16 - 1
5-112103003-T-C c.338T>C p.V113A Missense 4/16 - 1
5-112103004-TTCCTATG-T c.339_345del p.P114Vfs*9 Frameshift 4/16 - 1
5-112103005-C-T c.340C>T p.P114S Missense 4/16 - 1
5-112103006-C-G c.341C>G p.P114R Missense 4/16 - 1
5-112103004-TC-T c.341del p.P114Lfs*11 Frameshift 4/16 - 1
5-112103010-G-T c.345G>T p.M115I Missense 4/16 - 1
5-112103012-GT-AG c.347_348delinsAG p.G116E Missense 4/16 - 1
5-112103012-G-T c.347G>T p.G116V Missense 4/16 - 1
5-112103013-T-C c.348T>C p.G116= Synonymous 4/16 - 1
5-112103014-TCA-AAC c.349_351delinsAAC p.S117N Missense 4/16 - 1
5-112103015-C-A c.350C>A p.S117* Nonsense 4/16 - 1
5-112103015-C-G c.350C>G p.S117* Nonsense 4/16 - 1
5-112103016-ATT-A c.353_354del p.F118Sfs*20 Frameshift 4/16 - 1
5-112103020-C-T c.355C>T p.P119S Missense 4/16 - 1
5-112103021-C-T c.356C>T p.P119L Missense 4/16 - 1
5-112103023-AG-CC c.358_359delinsCC p.R120P Missense 4/16 - 1
5-112103023-AG-GC c.358_359delinsGC p.R120A Missense 4/16 - 2
5-112103024-G-A c.359G>A p.R120K Missense 4/16 - 3
5-112103027-G-C c.362G>C p.R121T Missense 4/16 - 1
5-112103027-G-A c.362G>A p.R121K Missense 4/16 - 1
5-112103028-A-T c.363A>T p.R121S Missense 4/16 - 1
5-112103029-G-C c.364G>C p.G122R Missense 4/16 - 1
5-112103029-G-T c.364G>T p.G122W Missense 4/16 - 2
5-112103028-AG-A c.366del p.F123Lfs*2 Frameshift 4/16 - 2
5-112103032-TT-GC c.367_368delinsGC p.F123A Missense 4/16 - 2
5-112103032-T-A c.367T>A p.F123I Missense 4/16 - 1
5-112103039-A-G c.374A>G p.N125S Missense 4/16 - 1
5-112103040-T-G c.375T>G p.N125K Missense 4/16 - 1
5-112103040-T-A c.375T>A p.N125K Missense 4/16 - 1
5-112103041-GGA-AGC c.376_378delinsAGC p.G126S Missense 4/16 - 2
5-112103041-G-T c.376G>T p.G126* Nonsense 4/16 - 2
5-112103044-AG-GC c.379_380delinsGC p.S127A Missense 4/16 - 17
5-112103044-AG-GA c.379_380delinsGA p.S127D Missense 4/16 - 4
5-112103044-A-G c.379A>G p.S127G Missense 4/16 - 1
5-112103044-AGC-TGA c.379_381delinsTGA p.S127* Nonsense 4/16 - 1
5-112103045-G-C c.380G>C p.S127T Missense 4/16 - 1
5-112103047-AG-CA c.382_383delinsCA p.R128Q Missense 4/16 - 1
5-112103047-AGA-TGT c.382_384delinsTGT p.R128C Missense 4/16 - 1
5-112103050-G-A c.385G>A p.E129K Missense 4/16 - 1
5-112103050-G-C c.385G>C p.E129Q Missense 4/16 - 2
5-112103051-A-AT c.386_387insT p.E129Dfs*10 Frameshift 4/16 - 1
5-112103052-A-AT c.387_388insT p.S130* Nonsense 4/16 - 1
5-112103053-A-T c.388A>T p.S130C Missense 4/16 - 1
5-112103053-A-G c.388A>G p.S130G Missense 4/16 - 5
5-112103053-AG-GC c.388_389delinsGC p.S130A Missense 4/16 - 3
5-112103050-GA-G c.388del p.S130Vfs*5 Frameshift 4/16 - 1
5-112103055-T-G c.390T>G p.S130R Missense 4/16 - 1
5-112103055-T-A c.390T>A p.S130R Missense 4/16 - 1
5-112103053-A-C c.388A>C p.S130R Missense 4/16 - 1
5-112103056-A-G c.391A>G p.T131A Missense 4/16 - 2
5-112103059-GGA-TGG c.394_396delinsTGG p.G132W Missense 4/16 - 1
5-112103059-GG-AA c.394_395delinsAA p.G132K Missense 4/16 - 1
5-112103060-G-C c.395G>C p.G132A Missense 4/16 - 1
5-112103062-T-G c.397T>G p.Y133D Missense 4/16 - 1
5-112103063-A-C c.398A>C p.Y133S Missense 4/16 - 1
5-112103071-G-A c.406G>A p.E136K Missense 4/16 - 3
5-112103071-G-T c.406G>T p.E136* Nonsense 4/16 - 2
5-112103074-CTT-GAG c.409_411delinsGAG p.L137E Missense 4/16 - 1
5-112103077-G-A c.412G>A p.E138K Missense 4/16 - 1
5-112103077-G-C c.412G>C p.E138Q Missense 4/16 - 1
5-112103078-A-C c.413A>C p.E138A Missense 4/16 - 1
5-112103079-G-C c.414G>C p.E138D Missense 4/16 - 1
5-112103079-G-T c.414G>T p.E138D Missense 4/16 - 1
5-112103080-A-G c.415A>G p.K139E Missense 4/16 - 1
5-112103077-GAGAA-G c.416_419del p.K139Rfs*30 Frameshift 4/16 - 3
5-112103082-A-G c.417A>G p.K139= Synonymous 4/16 - 1
5-112103083-GAG-ATC c.418_420delinsATC p.E140I Missense 4/16 - 1
5-112103085-G-C c.420G>C p.E140D Missense 4/16 - 1
5-112103086-A-T c.421A>T p.R141W Missense 4/16 - 1
5-112103086-AG-GC c.421_422delinsGC p.R141A Missense 4/16 - 1
5-112103087-G-T c.422G>T p.R141M Missense 4/16 - 1
5-112103087-G-A c.422G>A p.R141K Missense 4/16 - 1
5-112103090-A-G c.422+3A>G - IntronicSNV - 4/15 1
5-112103093-T-C c.422+6T>C - IntronicSNV - 4/15 1
5-112103101-A-G c.422+14A>G - IntronicSNV - 4/15 1
5-112103104-T-C c.422+17T>C - IntronicSNV - 4/15 1
5-112107058-G-A c.422+3971G>A - IntronicSNV - 4/15 1
5-112107058-G-T c.422+3971G>T - IntronicSNV - 4/15 1
5-112109779-G-C c.423-1547G>C - IntronicSNV - 4/15 2
5-112111310-A-T c.423-16A>T - IntronicSNV - 4/15 1
5-112111326-G-C c.423G>C p.R141S Missense 5/16 - 1
5-112111326-G-T c.423G>T p.R141S Missense 5/16 - 5
5-112111326-GGTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTC-G c.423_481del p.S142Tfs*6 Multi:SpliceAcceptorDeletion,CdsStopDeletion 5/16 - 3
5-112111327-TC-AA c.424_425delinsAA p.S142K Missense 5/16 - 1
5-112111327-T-TA c.424_425insA p.S142Yfs*6 SpliceAcceptorInsertion 5/16 - 1
5-112111329-CAT-C c.426_427del p.L143Afs*4 Frameshift 5/16 - 12
5-112111330-TT-GA c.427_428delinsGA p.L143E Missense 5/16 - 1
5-112111331-T-A c.428T>A p.L143* Nonsense 5/16 - 1
5-112111333-C-T c.430C>T p.L144F Missense 5/16 - 2
5-112111334-TT-AA c.431_432inv p.L144Q Missense 5/16 - 1
5-112111336-C-T c.433C>T p.L145F Missense 5/16 - 1
5-112111337-TT-AA c.434_435inv p.L145Q Missense 5/16 - 1
5-112111339-G-A c.436G>A p.A146T Missense 5/16 - 6
5-112111339-G-C c.436G>C p.A146P Missense 5/16 - 1
5-112111339-GC-TT c.436_437delinsTT p.A146F Missense 5/16 - 1
5-112111339-GCT-TAA c.436_438delinsTAA p.A146* Nonsense 5/16 - 1
5-112111339-GC-AA c.436_437delinsAA p.A146N Missense 5/16 - 1
5-112111340-C-T c.437C>T p.A146V Missense 5/16 - 2
5-112111341-T-A c.438T>A p.A146= Synonymous 5/16 - 1
5-112111342-TG-T c.439del p.D147Ifs*23 Frameshift 5/16 - 1
5-112111345-CTT-GAG c.442_444delinsGAG p.L148E Missense 5/16 - 1
5-112111348-G-C c.445G>C p.D149H Missense 5/16 - 1
5-112111349-A-G c.446A>G p.D149G Missense 5/16 - 1
5-112111349-A-T c.446A>T p.D149V Missense 5/16 - 1
5-112111349-A-C c.446A>C p.D149A Missense 5/16 - 1
5-112111349-A-AC c.447dup p.K150Qfs*18 Frameshift 5/16 - 2
5-112111351-AA-GC c.448_449delinsGC p.K150A Missense 5/16 - 2
5-112111351-CAAA-C c.448_450del p.K150del InFrameDeletion 5/16 - 4
5-112111351-A-T c.448A>T p.K150* Nonsense 5/16 - 1
5-112111350-CAAAG-C c.450_453del p.E151Kfs*18 Frameshift 5/16 - 1
5-112111355-A-C c.452A>C p.E151A Missense 5/16 - 2
5-112111354-GA-G c.453del p.E152Kfs*18 Frameshift 5/16 - 1
5-112111357-GA-TC c.454_455inv p.E152S Missense 5/16 - 3
5-112111354-GAAGAA-G c.455_459del p.E152Gfs*14 Frameshift 5/16 - 1
5-112111357-G-GAGAA c.455_456insGAAA p.E154Kfs*15 Frameshift 5/16 - 1
5-112111360-AA-GG c.457_458delinsGG p.K153G Missense 5/16 - 1
5-112111357-GAA-G c.457_458del p.K153Gfs*14 Frameshift 5/16 - 1
5-112111361-A-G c.458A>G p.K153R Missense 5/16 - 1
5-112111363-G-A c.460G>A p.E154K Missense 5/16 - 9
5-112111363-GAA-CAT c.460_462delinsCAT p.E154H Missense 5/16 - 1
5-112111364-A-T c.461A>T p.E154V Missense 5/16 - 1
5-112111366-A-G c.463A>G p.K155E Missense 5/16 - 9
5-112111366-AAA-GAC c.463_465delinsGAC p.K155D Missense 5/16 - 1
5-112111366-AA-GC c.463_464delinsGC p.K155A Missense 5/16 - 1
5-112111367-AA-TG c.464_465delinsTG p.K155M Missense 5/16 - 2
5-112111368-A-AT c.465_466insT p.D156* Nonsense 5/16 - 1
5-112111368-A-G c.465A>G p.K155= Synonymous 5/16 - 2
5-112111370-A-C c.467A>C p.D156A Missense 5/16 - 1
5-112111371-ACTGGT-A c.468_472del p.D156Efs*10 Frameshift 5/16 - 1
5-112111375-TA-GC c.472_473delinsGC p.Y158A Missense 5/16 - 1
5-112111376-A-T c.473A>T p.Y158F Missense 5/16 - 1
5-112111377-T-G c.474T>G p.Y158* Nonsense 5/16 - 1
5-112111378-T-C c.475T>C p.Y159H Missense 5/16 - 2
5-112111380-C-G c.477C>G p.Y159* Nonsense 5/16 - 2
5-112111380-C-A c.477C>A p.Y159* Nonsense 5/16 - 1
5-112111383-CTCAA-C c.480_483del p.Q161Ffs*8 Frameshift 5/16 - 1
5-112111384-C-T c.481C>T p.Q161* Nonsense 5/16 - 1
5-112111385-A-G c.482A>G p.Q161R Missense 5/16 - 1
5-112111390-C-T c.487C>T p.Q163* Nonsense 5/16 - 5
5-112111390-C-A c.487C>A p.Q163K Missense 5/16 - 1
5-112111393-AA-CC c.490_491delinsCC p.N164P Missense 5/16 - 1
5-112111394-AT-GG c.491_492delinsGG p.N164R Missense 5/16 - 1
5-112111396-CT-GC c.493_494delinsGC p.L165A Missense 5/16 - 1
5-112111399-A-G c.496A>G p.T166A Missense 5/16 - 2
5-112111399-A-AC c.497dup p.K167* Nonsense 5/16 - 1
5-112111403-AA-TG c.500_501delinsTG p.K167M Missense 5/16 - 1
5-112111403-A-G c.500A>G p.K167R Missense 5/16 - 1
5-112111405-A-T c.502A>T p.R168* Nonsense 5/16 - 5
5-112111405-AGA-CAT c.502_504delinsCAT p.R168H Missense 5/16 - 3
5-112111406-G-T c.503G>T p.R168I Missense 5/16 - 1
5-112111406-G-C c.503G>C p.R168T Missense 5/16 - 1
5-112111404-AAGAAT-A c.505_509del p.I169* Frameshift 5/16 - 1
5-112111412-A-C c.509A>C p.D170A Missense 5/16 - 2
5-112111407-AATAG-A c.509_512del p.D170Vfs*4 Frameshift 5/16 - 3
5-112111414-AG-GC c.511_512delinsGC p.S171A Missense 5/16 - 1
5-112111413-T-TA c.511dup p.S171Kfs*6 Frameshift 5/16 - 2
5-112111416-GTCTT-G c.513_516del p.P173* Frameshift 5/16 - 1
5-112111420-C-A c.517C>A p.P173T Missense 5/16 - 1
5-112111416-TCTTC-T c.517_520del p.P173* Frameshift 5/16 - 1
5-112111421-C-T c.518C>T p.P173L Missense 5/16 - 1
5-112111421-C-G c.518C>G p.P173R Missense 5/16 - 1
5-112111423-TT-GC c.520_521delinsGC p.L174A Missense 5/16 - 1
5-112111426-AC-TG c.523_524delinsTG p.T175C Missense 5/16 - 2
5-112111426-A-G c.523A>G p.T175A Missense 5/16 - 1
5-112111426-AC-CA c.523_524delinsCA p.T175H Missense 5/16 - 1
5-112111427-C-G c.524C>G p.T175S Missense 5/16 - 2
5-112111426-A-T c.523A>T p.T175S Missense 5/16 - 2
5-112111427-CT-TG c.524_525delinsTG p.T175M Missense 5/16 - 1
5-112111427-AC-A c.524del p.T175Mfs*10 Frameshift 5/16 - 1
5-112111430-A-C c.527A>C p.E176A Missense 5/16 - 2
5-112111431-A-G c.528A>G p.E176= Synonymous 5/16 - 1
5-112111432-AA-GG c.529_530delinsGG p.N177G Missense 5/16 - 1
5-112111432-A-C c.529A>C p.N177H Missense 5/16 - 1
5-112111435-G-A c.531+1G>A - IntronicSNV - 5/15 2
5-112111435-G-T c.531+1G>T - IntronicSNV - 5/15 1
5-112111436-T-A c.531+2T>A - IntronicSNV - 5/15 1
5-112111439-G-C c.531+5G>C - IntronicSNV - 5/15 2
5-112111434-TGTAA-T c.531+5_531+8del - IntronicDeletion - 5/15 1
5-112113527-A-T c.531+2093A>T - IntronicSNV - 5/15 1
5-112115642-A-G c.532-845A>G - IntronicSNV - 5/15 1
5-112116487-T-G c.532T>G p.F178V Missense 6/16 - 1
5-112116491-CC-AA c.536_537delinsAA p.S179* Nonsense 6/16 - 1
5-112116493-TT-GC c.538_539delinsGC p.L180A Missense 6/16 - 1
5-112116494-T-A c.539T>A p.L180* Nonsense 6/16 - 1
5-112116494-T-G c.539T>G p.L180* Nonsense 6/16 - 1
5-112116495-A-T c.540A>T p.L180F Missense 6/16 - 1
5-112116495-A-C c.540A>C p.L180F Missense 6/16 - 1
5-112116494-T-TA c.540dup p.Q181Tfs*12 Frameshift 6/16 - 1
5-112116496-C-T c.541C>T p.Q181* Nonsense 6/16 - 1
5-112116496-CA-GC c.541_542delinsGC p.Q181A Missense 6/16 - 1
5-112116494-TACAA-T c.543_546del p.T182Ifs*2 Frameshift 6/16 - 2
5-112116499-A-G c.544A>G p.T182A Missense 6/16 - 1
5-112116496-C-CA c.544dup p.T182Nfs*11 Frameshift 6/16 - 1
5-112116499-ACA-GAC c.544_546delinsGAC p.T182D Missense 6/16 - 1
5-112116500-C-CA c.546dup p.D183Rfs*10 Frameshift 6/16 - 1
5-112116500-CAG-C c.547_548del p.D183Yfs*9 Frameshift 6/16 - 1
5-112116505-A-G c.550A>G p.M184V Missense 6/16 - 3
5-112116507-G-C c.552G>C p.M184I Missense 6/16 - 1
5-112116507-G-A c.552G>A p.M184I Missense 6/16 - 1
5-112116507-G-T c.552G>T p.M184I Missense 6/16 - 1
5-112116508-AC-GA c.553_554delinsGA p.T185D Missense 6/16 - 1
5-112116511-AGA-TGT c.556_558delinsTGT p.R186C Missense 6/16 - 2
5-112116511-AGA-CAT c.556_558delinsCAT p.R186H Missense 6/16 - 3
5-112116511-AGA-TGG c.556_558delinsTGG p.R186W Missense 6/16 - 2
5-112116511-A-T c.556A>T p.R186* Nonsense 6/16 - 3
5-112116511-CA-C c.556del p.R186Efs*19 Frameshift 6/16 - 2
5-112116514-AG-CA c.559_560delinsCA p.R187Q Missense 6/16 - 4
5-112116514-AGG-CAT c.559_561delinsCAT p.R187H Missense 6/16 - 1
5-112116514-AG-GC c.559_560delinsGC p.R187A Missense 6/16 - 2
5-112116515-G-A c.560G>A p.R187K Missense 6/16 - 3
5-112116516-G-C c.561G>C p.R187S Missense 6/16 - 1
5-112116516-G-T c.561G>T p.R187S Missense 6/16 - 1
5-112116518-A-C c.563A>C p.Q188P Missense 6/16 - 1
5-112116518-CAATTGGAA-C c.563_570del p.Q188Lfs*2 Frameshift 6/16 - 2
5-112116520-TT-AA c.565_566inv p.L189K Missense 6/16 - 1
5-112116523-G-A c.568G>A p.E190K Missense 6/16 - 2
5-112116523-G-T c.568G>T p.E190* Nonsense 6/16 - 5
5-112116524-A-C c.569A>C p.E190A Missense 6/16 - 1
5-112116526-TA-AT c.571_572delinsAT p.Y191I Missense 6/16 - 1
5-112116527-A-AT c.573dup p.E192* Nonsense 6/16 - 1
5-112116528-T-C c.573T>C p.Y191= Synonymous 6/16 - 2
5-112116529-G-C c.574G>C p.E192Q Missense 6/16 - 2
5-112116530-A-C c.575A>C p.E192A Missense 6/16 - 1
5-112116530-A-G c.575A>G p.E192G Missense 6/16 - 1
5-112116532-G-C c.577G>C p.A193P Missense 6/16 - 1
5-112116532-GCA-TGT c.577_579delinsTGT p.A193C Missense 6/16 - 1
5-112116541-AT-GC c.586_587delinsGC p.I196A Missense 6/16 - 1
5-112116541-A-G c.586A>G p.I196V Missense 6/16 - 1
5-112116544-AG-GA c.589_590delinsGA p.R197E Missense 6/16 - 1
5-112116544-AG-GC c.589_590delinsGC p.R197A Missense 6/16 - 1
5-112116544-CA-C c.589del p.R197Efs*8 Frameshift 6/16 - 1
5-112116543-CAG-C c.591_592del p.R197Sfs*54 Frameshift 6/16 - 1
5-112116549-T-TG c.595dup p.A199Gfs*53 Frameshift 6/16 - 1
5-112116551-C-T c.596C>T p.A199V Missense 6/16 - 2
5-112116553-AT-GC c.598_599delinsGC p.M200A Missense 6/16 - 1
5-112116553-AT-GG c.598_599delinsGG p.M200G Missense 6/16 - 1
5-112116556-G-T c.601G>T p.E201* Nonsense 6/16 - 1
5-112116559-G-C c.604G>C p.E202Q Missense 6/16 - 1
5-112116559-GAA-TGT c.604_606delinsTGT p.E202C Missense 6/16 - 1
5-112116560-A-C c.605A>C p.E202A Missense 6/16 - 3
5-112116561-A-C c.606A>C p.E202D Missense 6/16 - 1
5-112116561-A-T c.606A>T p.E202D Missense 6/16 - 1
5-112116561-A-G c.606A>G p.E202= Synonymous 6/16 - 2
5-112116562-C-G c.607C>G p.Q203E Missense 6/16 - 2
5-112116562-C-A c.607C>A p.Q203K Missense 6/16 - 1
5-112116562-C-T c.607C>T p.Q203* Nonsense 6/16 - 2
5-112116562-AC-A c.607del p.Q203Nfs*2 Frameshift 6/16 - 1
5-112116565-CT-GC c.610_611delinsGC p.L204A Missense 6/16 - 1
5-112116564-ACTAGGTAC-A c.612_619del p.G205Pfs*44 Frameshift 6/16 - 1
5-112116568-G-A c.613G>A p.G205S Missense 6/16 - 3
5-112116568-G-C c.613G>C p.G205R Missense 6/16 - 1
5-112116569-G-C c.614G>C p.G205A Missense 6/16 - 2
5-112116571-A-G c.616A>G p.T206A Missense 6/16 - 2
5-112116571-AC-GA c.616_617delinsGA p.T206D Missense 6/16 - 4
5-112116573-CCTGCCAGGAT-C c.618_627del p.C207Wfs*9 Frameshift 6/16 - 1
5-112116574-TG-GC c.619_620delinsGC p.C207A Missense 6/16 - 1
5-112116576-C-A c.621C>A p.C207* Nonsense 6/16 - 1
5-112116577-C-T c.622C>T p.Q208* Nonsense 6/16 - 1
5-112116577-C-CA c.623dup p.D209Gfs*43 Frameshift 6/16 - 1
5-112116581-A-C c.626A>C p.D209A Missense 6/16 - 1
5-112116583-AT-GC c.628_629delinsGC p.M210A Missense 6/16 - 1
5-112116580-GAT-G c.628_629del p.M210Gfs*41 Frameshift 6/16 - 1
5-112116583-ATG-GAC c.628_630delinsGAC p.M210D Missense 6/16 - 1
5-112116583-ATG-TTT c.628_630delinsTTT p.M210F Missense 6/16 - 3
5-112116585-G-GT c.630_631insT p.E211* Nonsense 6/16 - 1
5-112116586-G-A c.631G>A p.E211K Missense 6/16 - 1
5-112116586-G-T c.631G>T p.E211* Nonsense 6/16 - 1
5-112116587-A-C c.632A>C p.E211A Missense 6/16 - 1
5-112116589-AA-GC c.634_635delinsGC p.K212A Missense 6/16 - 1
5-112116590-A-G c.635A>G p.K212R Missense 6/16 - 1
5-112116586-GA-G c.636del p.K212Nfs*7 Frameshift 6/16 - 2
5-112116586-G-GA c.636dup p.R213Tfs*39 Frameshift 6/16 - 1
5-112116592-C-T c.637C>T p.R213* Nonsense 6/16 - 43
5-112116592-C-A c.637C>A p.R213= Synonymous 6/16 - 1
5-112116594-A-C c.639A>C p.R213= Synonymous 6/16 - 1
5-112116594-A-G c.639A>G p.R213= Synonymous 6/16 - 1
5-112116594-A-T c.639A>T p.R213= Synonymous 6/16 - 1
5-112116592-C-G c.637C>G p.R213G Missense 6/16 - 3
5-112116593-G-A c.638G>A p.R213Q Missense 6/16 - 2
5-112116595-G-T c.640G>T p.A214S Missense 6/16 - 2
5-112116595-G-A c.640G>A p.A214T Missense 6/16 - 1
5-112116595-G-GC c.641dup p.Q215Tfs*37 Frameshift 6/16 - 1
5-112116596-C-T c.641C>T p.A214V Missense 6/16 - 1
5-112116600-G-T c.645G>T p.Q215H Missense 6/16 - 1
5-112116601-G-T c.645+1G>T - IntronicSNV - 6/15 1
5-112116601-G-A c.645+1G>A - IntronicSNV - 6/15 1
5-112116632-C-T c.645+32C>T - IntronicSNV - 6/15 3
5-112116644-AG-A c.645+46del - IntronicDeletion - 6/15 1
5-112116729-A-C c.645+129A>C - IntronicSNV - 6/15 2
5-112116773-A-G c.645+173A>G - IntronicSNV - 6/15 2
5-112116773-A-T c.645+173A>T - IntronicSNV - 6/15 1
5-112118338-G-A c.645+1738G>A - IntronicSNV - 6/15 2
5-112118956-C-T c.645+2356C>T - IntronicSNV - 6/15 3
5-112122532-G-A c.646-5611G>A - IntronicSNV - 6/15 3
5-112122532-G-C c.646-5611G>C - IntronicSNV - 6/15 3
5-112122532-G-T c.646-5611G>T - IntronicSNV - 6/15 3
5-112124369-T-C c.646-3774T>C - IntronicSNV - 6/15 9
5-112124369-T-G c.646-3774T>G - IntronicSNV - 6/15 9
5-112128143-CGA-TGG c.646_648delinsTGG p.R216W Missense 7/16 - 1
5-112128143-C-T c.646C>T p.R216* Nonsense 7/16 - 47
5-112128143-C-G c.646C>G p.R216G Missense 7/16 - 3
5-112128144-G-A c.647G>A p.R216Q Missense 7/16 - 1
5-112128150-T-C c.653T>C p.I218T Missense 7/16 - 1
5-112128152-G-A c.655G>A p.A219T Missense 7/16 - 1
5-112128155-A-T c.658A>T p.R220* Nonsense 7/16 - 1
5-112128161-C-T c.664C>T p.Q222* Nonsense 7/16 - 1
5-112128163-G-C c.666G>C p.Q222H Missense 7/16 - 1
5-112128164-C-T c.667C>T p.Q223* Nonsense 7/16 - 2
5-112128165-A-G c.668A>G p.Q223R Missense 7/16 - 2
5-112128167-A-G c.670A>G p.I224V Missense 7/16 - 2
5-112128167-AT-GC c.670_671delinsGC p.I224A Missense 7/16 - 1
5-112128168-T-C c.671T>C p.I224T Missense 7/16 - 1
5-112128169-C-G c.672C>G p.I224M Missense 7/16 - 1
5-112128170-G-A c.673G>A p.E225K Missense 7/16 - 1
5-112128170-G-T c.673G>T p.E225* Nonsense 7/16 - 1
5-112128171-A-C c.674A>C p.E225A Missense 7/16 - 1
5-112128170-GA-G c.677del p.K226Rfs*67 Frameshift 7/16 - 1
5-112128176-GAC-AAG c.679_681delinsAAG p.D227K Missense 7/16 - 19
5-112128176-G-A c.679G>A p.D227N Missense 7/16 - 1
5-112128174-AG-A c.679del p.D227Tfs*66 Frameshift 7/16 - 1
5-112128177-A-C c.680A>C p.D227A Missense 7/16 - 2
5-112128177-A-G c.680A>G p.D227G Missense 7/16 - 1
5-112128185-C-T c.688C>T p.R230C Missense 7/16 - 4
5-112128185-CG-GC c.688_689delinsGC p.R230A Missense 7/16 - 1
5-112128186-G-A c.689G>A p.R230H Missense 7/16 - 2
5-112128191-C-T c.694C>T p.R232* Nonsense 7/16 - 47
5-112128192-G-A c.695G>A p.R232Q Missense 7/16 - 1
5-112128192-GA-AT c.695_696delinsAT p.R232H Missense 7/16 - 1
5-112128197-CT-GC c.700_701delinsGC p.L234A Missense 7/16 - 20
5-112128197-C-T c.700C>T p.L234F Missense 7/16 - 3
5-112128197-C-G c.700C>G p.L234V Missense 7/16 - 2
5-112128197-CT-GA c.700_701delinsGA p.L234D Missense 7/16 - 1
5-112128197-CT-GG c.700_701delinsGG p.L234G Missense 7/16 - 1
5-112128197-CTT-GAG c.700_702delinsGAG p.L234E Missense 7/16 - 1
5-112128197-CT-AG c.700_701inv p.L234S Missense 7/16 - 1
5-112128197-CTT-AAG c.700_702inv p.L234K Missense 7/16 - 1
5-112128197-CT-AC c.700_701delinsAC p.L234T Missense 7/16 - 1
5-112128198-TT-AA c.701_702inv p.L234Q Missense 7/16 - 1
5-112128198-T-G c.701T>G p.L234R Missense 7/16 - 1
5-112128198-T-A c.701T>A p.L234H Missense 7/16 - 1
5-112128200-TT-GC c.703_704delinsGC p.L235A Missense 7/16 - 17
5-112128200-TTA-ATG c.703_705delinsATG p.L235M Missense 7/16 - 1
5-112128200-TT-GA c.703_704delinsGA p.L235E Missense 7/16 - 8
5-112128200-T-G c.703T>G p.L235V Missense 7/16 - 2
5-112128200-TT-AC c.703_704delinsAC p.L235T Missense 7/16 - 1
5-112128200-TT-GG c.703_704delinsGG p.L235G Missense 7/16 - 1
5-112128201-T-C c.704T>C p.L235S Missense 7/16 - 1
5-112128201-T-A c.704T>A p.L235* Nonsense 7/16 - 1
5-112128201-T-G c.704T>G p.L235* Nonsense 7/16 - 1
5-112128202-A-T c.705A>T p.L235F Missense 7/16 - 2
5-112128202-A-C c.705A>C p.L235F Missense 7/16 - 2
5-112128202-A-G c.705A>G p.L235= Synonymous 7/16 - 2
5-112128203-CAG-GAC c.706_708delinsGAC p.Q236D Missense 7/16 - 1
5-112128203-CA-AC c.706_707delinsAC p.Q236T Missense 7/16 - 1
5-112128203-C-T c.706C>T p.Q236* Nonsense 7/16 - 1
5-112128204-CA-C c.707del p.Q236Rfs*57 Frameshift 7/16 - 1
5-112128204-A-G c.707A>G p.Q236R Missense 7/16 - 1
5-112128206-T-G c.709T>G p.S237A Missense 7/16 - 1
5-112128212-G-C c.715G>C p.A239P Missense 7/16 - 1
5-112128212-G-A c.715G>A p.A239T Missense 7/16 - 1
5-112128215-A-T c.718A>T p.T240S Missense 7/16 - 1
5-112128213-CA-C c.718del p.T240Qfs*53 Frameshift 7/16 - 1
5-112128216-CA-TG c.719_720inv p.T240M Missense 7/16 - 1
5-112128218-G-T c.721G>T p.E241* Nonsense 7/16 - 1
5-112128218-G-A c.721G>A p.E241K Missense 7/16 - 2
5-112128221-G-T c.724G>T p.A242S Missense 7/16 - 1
5-112128223-CA-C c.726del p.E243Rfs*50 Frameshift 7/16 - 1
5-112128224-G-A c.727G>A p.E243K Missense 7/16 - 1
5-112130086-C-A c.729+1860C>A - IntronicSNV - 7/15 1
5-112131288-A-G c.729+3062A>G - IntronicSNV - 7/15 1
5-112131787-A-G c.729+3561A>G - IntronicSNV - 7/15 1
5-112135090-G-A c.730-1886G>A - IntronicSNV - 7/15 2
5-112135090-G-C c.730-1886G>C - IntronicSNV - 7/15 2
5-112136954-G-C c.730-22G>C - IntronicSNV - 7/15 1
5-112136973-CAG-C c.730_731del p.R244Vfs*7 SpliceAcceptorDeletion 8/16 - 3
5-112136976-AGG-CAT c.730_732delinsCAT p.R244H Missense 8/16 - 1
5-112136979-T-A c.733T>A p.S245T Missense 8/16 - 1
5-112136982-T-G c.736T>G p.S246A Missense 8/16 - 3
5-112136982-T-C c.736T>C p.S246P Missense 8/16 - 1
5-112136984-T-G c.738T>G p.S246= Synonymous 8/16 - 1
5-112136984-T-C c.738T>C p.S246= Synonymous 8/16 - 1
5-112136984-T-A c.738T>A p.S246= Synonymous 8/16 - 1
5-112136985-C-T c.739C>T p.Q247* Nonsense 8/16 - 1
5-112136988-AA-GC c.742_743delinsGC p.N248A Missense 8/16 - 1
5-112136988-AAC-CAA c.742_744delinsCAA p.N248Q Missense 8/16 - 2
5-112136989-A-G c.743A>G p.N248S Missense 8/16 - 1
5-112136993-G-C c.747G>C p.K249N Missense 8/16 - 1
5-112136994-C-G c.748C>G p.H250D Missense 8/16 - 1
5-112136994-CAT-AAG c.748_750delinsAAG p.H250K Missense 8/16 - 1
5-112136995-A-G c.749A>G p.H250R Missense 8/16 - 1
5-112136997-G-A c.751G>A p.E251K Missense 8/16 - 1
5-112136998-A-C c.752A>C p.E251A Missense 8/16 - 1
5-112137000-A-G c.754A>G p.T252A Missense 8/16 - 3
5-112137001-CC-TG c.755_756delinsTG p.T252M Missense 8/16 - 1
5-112137003-G-A c.757G>A p.G253S Missense 8/16 - 4
5-112137004-G-A c.758G>A p.G253D Missense 8/16 - 8
5-112137006-T-A c.760T>A p.S254T Missense 8/16 - 2
5-112137009-C-T c.763C>T p.H255Y Missense 8/16 - 1
5-112137009-C-CA c.764dup p.H255Qfs*2 Frameshift 8/16 - 1
5-112137018-G-T c.772G>T p.E258* Nonsense 8/16 - 1
5-112137018-G-C c.772G>C p.E258Q Missense 8/16 - 2
5-112137021-CGG-GAC c.775_777delinsGAC p.R259D Missense 8/16 - 1
5-112137021-C-T c.775C>T p.R259W Missense 8/16 - 5
5-112137021-CG-GC c.775_776delinsGC p.R259A Missense 8/16 - 1
5-112137022-G-C c.776G>C p.R259P Missense 8/16 - 1
5-112137022-G-A c.776G>A p.R259Q Missense 8/16 - 1
5-112137024-C-T c.778C>T p.Q260* Nonsense 8/16 - 2
5-112137025-A-C c.779A>C p.Q260P Missense 8/16 - 1
5-112137025-A-T c.779A>T p.Q260L Missense 8/16 - 1
5-112137026-G-T c.780G>T p.Q260H Missense 8/16 - 1
5-112137026-G-C c.780G>C p.Q260H Missense 8/16 - 1
5-112137026-G-GA c.782dup p.N261Kfs*2 Frameshift 8/16 - 1
5-112137030-G-T c.784G>T p.E262* Nonsense 8/16 - 2
5-112137030-G-A c.784G>A p.E262K Missense 8/16 - 1
5-112137031-A-G c.785A>G p.E262G Missense 8/16 - 1
5-112137031-A-C c.785A>C p.E262A Missense 8/16 - 1
5-112137036-C-T c.790C>T p.Q264* Nonsense 8/16 - 5
5-112137037-A-G c.791A>G p.Q264R Missense 8/16 - 1
5-112137037-A-T c.791A>T p.Q264L Missense 8/16 - 1
5-112137038-A-T c.792A>T p.Q264H Missense 8/16 - 1
5-112137039-G-T c.793G>T p.G265* Nonsense 8/16 - 1
5-112137038-A-AG c.794dup p.V266Sfs*11 Frameshift 8/16 - 2
5-112137042-GTG-ATC c.796_798delinsATC p.V266I Missense 8/16 - 1
5-112137045-G-T c.799G>T p.G267* Nonsense 8/16 - 1
5-112137046-G-A c.800G>A p.G267E Missense 8/16 - 1
5-112137043-TG-T c.800del p.G267Efs*26 Frameshift 8/16 - 1
5-112137048-G-T c.802G>T p.E268* Nonsense 8/16 - 3
5-112137049-A-C c.803A>C p.E268A Missense 8/16 - 1
5-112137050-A-C c.804A>C p.E268D Missense 8/16 - 1
5-112137050-A-T c.804A>T p.E268D Missense 8/16 - 1
5-112137052-T-TAACAGCC c.806_807insAACAGCC p.N270Tfs*9 Frameshift 8/16 - 1
5-112137056-AC-A c.810del p.N270Kfs*23 Frameshift 8/16 - 1
5-112137052-TCAACATGG-T c.811_818del p.M271Ffs*3 Frameshift 8/16 - 1
5-112137057-A-G c.811A>G p.M271V Missense 8/16 - 1
5-112137058-AT-A c.812del p.M271Rfs*22 Frameshift 8/16 - 1
5-112137060-GCA-TGT c.814_816delinsTGT p.A272C Missense 8/16 - 1
5-112137061-C-T c.815C>T p.A272V Missense 8/16 - 1
5-112137063-A-G c.817A>G p.T273A Missense 8/16 - 1
5-112137063-A-C c.817A>C p.T273P Missense 8/16 - 1
5-112137064-CT-TG c.818_819delinsTG p.T273M Missense 8/16 - 1
5-112137066-T-G c.820T>G p.S274A Missense 8/16 - 1
5-112137068-TG-T c.824del p.G275Vfs*18 Frameshift 8/16 - 1
5-112137070-G-T c.824G>T p.G275V Missense 8/16 - 1
5-112137070-G-GT c.825dup p.N276* Nonsense 8/16 - 1
5-112137072-AA-GC c.826_827delinsGC p.N276A Missense 8/16 - 3
5-112137072-A-G c.826A>G p.N276D Missense 8/16 - 1
5-112137076-G-C c.830G>C p.G277A Missense 8/16 - 1
5-112137078-CA-GC c.832_833delinsGC p.Q278A Missense 8/16 - 1
5-112137078-C-T c.832C>T p.Q278* Nonsense 8/16 - 2
5-112137080-G-C c.834G>C p.Q278H Missense 8/16 - 3
5-112137081-G-C c.834+1G>C - IntronicSNV - 8/15 1
5-112137081-G-A c.834+1G>A - IntronicSNV - 8/15 2
5-112137082-T-C c.834+2T>C - IntronicSNV - 8/15 2
5-112137082-T-A c.834+2T>A - IntronicSNV - 8/15 1
5-112137156-A-G c.834+76A>G - IntronicSNV - 8/15 1
5-112137171-T-A c.834+91T>A - IntronicSNV - 8/15 1
5-112140022-A-G c.834+2942A>G - IntronicSNV - 8/15 1
5-112144444-A-G c.835-6748A>G - IntronicSNV - 8/15 1
5-112144444-A-T c.835-6748A>T - IntronicSNV - 8/15 1
5-112146117-A-G c.835-5075A>G - IntronicSNV - 8/15 12
5-112146181-A-G c.835-5011A>G - IntronicSNV - 8/15 3
5-112149927-A-G c.835-1265A>G - IntronicSNV - 8/15 3
5-112151168-A-T c.835-24A>T - IntronicSNV - 8/15 1
5-112151184-A-G c.835-8A>G - IntronicSNV - 8/15 1
5-112151189-T-C c.835-3T>C - IntronicSNV - 8/15 1
5-112151195-T-G c.838T>G p.S280A Missense 9/16 - 1
5-112151196-C-A c.839C>A p.S280* Nonsense 9/16 - 1
5-112151196-C-G c.839C>G p.S280* Nonsense 9/16 - 1
5-112151196-TCAAC-T c.839_842del p.S280Lfs*12 Frameshift 9/16 - 1
5-112151202-C-T c.845C>T p.T282I Missense 9/16 - 1
5-112151204-C-T c.847C>T p.R283* Nonsense 9/16 - 33
5-112151204-CG-GC c.847_848delinsGC p.R283A Missense 9/16 - 2
5-112151205-G-A c.848G>A p.R283Q Missense 9/16 - 2
5-112151213-CCATGAAACAGCCAGTGTTTT-C c.856_875del p.H286Efs*3 Frameshift 9/16 - 1
5-112151213-C-T c.856C>T p.H286Y Missense 9/16 - 1
5-112151215-AT-A c.858del p.H286Qfs*7 Frameshift 9/16 - 1
5-112151216-GA-AG c.859_860delinsAG p.E287R Missense 9/16 - 1
5-112151216-G-T c.859G>T p.E287* Nonsense 9/16 - 1
5-112151216-G-A c.859G>A p.E287K Missense 9/16 - 2
5-112151219-A-G c.862A>G p.T288A Missense 9/16 - 1
5-112151221-A-AC c.864_865insC p.A289Rfs*7 Frameshift 9/16 - 1
5-112151222-G-A c.865G>A p.A289T Missense 9/16 - 1
5-112151223-C-T c.866C>T p.A289V Missense 9/16 - 1
5-112151228-G-A c.871G>A p.V291I Missense 9/16 - 1
5-112151228-GT-G c.875del p.L292* Frameshift 9/16 - 1
5-112151228-G-GT c.875dup p.L292Ffs*4 Frameshift 9/16 - 1
5-112151232-T-A c.875T>A p.L292* Nonsense 9/16 - 1
5-112151233-G-T c.876G>T p.L292F Missense 9/16 - 1
5-112151233-G-C c.876G>C p.L292F Missense 9/16 - 1
5-112151235-GT-G c.880del p.S294Lfs*11 Frameshift 9/16 - 1
5-112151240-A-G c.883A>G p.S295G Missense 9/16 - 1
5-112151241-G-GT c.885dup p.S296* Nonsense 9/16 - 1
5-112151243-A-G c.886A>G p.S296G Missense 9/16 - 1
5-112151246-ACA-TGT c.889_891inv p.T297C Missense 9/16 - 1
5-112151247-C-T c.890C>T p.T297I Missense 9/16 - 1
5-112151244-GCACA-G c.891_894del p.H298Lfs*6 Frameshift 9/16 - 1
5-112151247-C-CA c.891dup p.H298Tfs*29 Frameshift 9/16 - 1
5-112151249-CA-AC c.892_893delinsAC p.H298T Missense 9/16 - 1
5-112151250-CA-C c.893del p.H298Pfs*7 Frameshift 9/16 - 1
5-112151244-GCA-G c.893_894del p.H298Lfs*28 Frameshift 9/16 - 1
5-112151252-TC-CG c.895_896delinsCG p.S299R Missense 9/16 - 1
5-112151250-ACT-A c.896_897del p.S299Cfs*27 Frameshift 9/16 - 1
5-112151253-C-T c.896C>T p.S299F Missense 9/16 - 1
5-112151250-ACTCTGCAC-A c.897_904del p.A300Kfs*24 Frameshift 9/16 - 1
5-112151255-GC-AA c.898_899delinsAA p.A300K Missense 9/16 - 10
5-112151256-C-A c.899C>A p.A300E Missense 9/16 - 1
5-112151256-CA-AC c.899_900delinsAC p.A300D Missense 9/16 - 1
5-112151258-C-T c.901C>T p.P301S Missense 9/16 - 17
5-112151258-ACC-A c.901_902del p.P301Sfs*25 Frameshift 9/16 - 1
5-112151259-C-T c.902C>T p.P301L Missense 9/16 - 17
5-112151260-T-G c.903T>G p.P301= Synonymous 9/16 - 1
5-112151260-T-A c.903T>A p.P301= Synonymous 9/16 - 1
5-112151260-T-C c.903T>C p.P301= Synonymous 9/16 - 1
5-112151261-C-T c.904C>T p.R302* Nonsense 9/16 - 23
5-112151261-CG-GT c.904_905delinsGT p.R302V Missense 9/16 - 1
5-112151261-CGA-TGG c.904_906delinsTGG p.R302W Missense 9/16 - 1
5-112151262-G-A c.905G>A p.R302Q Missense 9/16 - 1
5-112151262-GA-G c.907del p.R303Gfs*2 Frameshift 9/16 - 1
5-112151264-AG-GC c.907_908delinsGC p.R303A Missense 9/16 - 1
5-112151273-AG-GC c.916_917delinsGC p.S306A Missense 9/16 - 1
5-112151275-T-A c.918T>A p.S306R Missense 9/16 - 1
5-112151279-C-T c.922C>T p.L308= Synonymous 9/16 - 1
5-112151279-TC-T c.922del p.L308Wfs*28 Frameshift 9/16 - 1
5-112151279-CTG-TGT c.922_924delinsTGT p.L308C Missense 9/16 - 1
5-112151282-G-A c.925G>A p.G309R Missense 9/16 - 1
5-112151282-G-C c.925G>C p.G309R Missense 9/16 - 1
5-112151282-G-T c.925G>T p.G309* Nonsense 9/16 - 1
5-112151285-A-G c.928A>G p.T310A Missense 9/16 - 1
5-112151286-C-G c.929C>G p.T310S Missense 9/16 - 1
5-112151288-AA-CT c.931_932delinsCT p.K311L Missense 9/16 - 1
5-112151288-AA-GC c.931_932delinsGC p.K311A Missense 9/16 - 1
5-112151290-G-C c.933G>C p.K311N Missense 9/16 - 1
5-112151290-G-T c.933G>T p.K311N Missense 9/16 - 1
5-112151289-AG-A c.933+1del - IntronicDeletion - 9/15 1
5-112151292-T-C c.933+2T>C - IntronicSNV - 9/15 2
5-112151320-A-G c.933+30A>G - IntronicSNV - 9/15 1
5-112151387-T-C c.933+97T>C - IntronicSNV - 9/15 1
5-112151551-G-T c.933+261G>T - IntronicSNV - 9/15 1
5-112153665-C-T c.934-998C>T - IntronicSNV - 9/15 1
5-112153996-C-A c.934-667C>A - IntronicSNV - 9/15 1
5-112153996-C-G c.934-667C>G - IntronicSNV - 9/15 1
5-112154531-G-T c.934-132G>T - IntronicSNV - 9/15 1
5-112154664-T-G c.935T>G p.V312G Missense 10/16 - 1
5-112154666-GAA-TGG c.937_939delinsTGG p.E313W Missense 10/16 - 1
5-112154666-GAA-ATG c.937_939delinsATG p.E313M Missense 10/16 - 1
5-112154666-GGA-G c.937_938del p.E313Nfs*13 Frameshift 10/16 - 1
5-112154666-G-A c.937G>A p.E313K Missense 10/16 - 1
5-112154666-G-C c.937G>C p.E313Q Missense 10/16 - 1
5-112154669-A-C c.940A>C p.M314L Missense 10/16 - 1
5-112154669-A-T c.940A>T p.M314L Missense 10/16 - 1
5-112154666-G-GA c.940dup p.M314Nfs*13 Frameshift 10/16 - 1
5-112154671-G-T c.942G>T p.M314I Missense 10/16 - 1
5-112154672-GT-TA c.943_944delinsTA p.V315* Nonsense 10/16 - 1
5-112154672-G-A c.943G>A p.V315M Missense 10/16 - 1
5-112154679-CA-GT c.950_951delinsGT p.S317C Missense 10/16 - 1
5-112154679-C-A c.950C>A p.S317* Nonsense 10/16 - 1
5-112154679-C-G c.950C>G p.S317* Nonsense 10/16 - 1
5-112154682-T-C c.953T>C p.L318S Missense 10/16 - 1
5-112154683-G-T c.954G>T p.L318F Missense 10/16 - 1
5-112154686-G-A c.957G>A p.L319= Synonymous 10/16 - 1
5-112154684-T-C c.955T>C p.L319= Synonymous 10/16 - 1
5-112154684-TT-AG c.955_956delinsAG p.L319R Missense 10/16 - 1
5-112154687-T-G c.958T>G p.S320A Missense 10/16 - 1
5-112154687-T-C c.958T>C p.S320P Missense 10/16 - 1
5-112154688-C-A c.959C>A p.S320* Nonsense 10/16 - 2
5-112154688-C-G c.959C>G p.S320* Nonsense 10/16 - 2
5-112154691-TG-GC c.962_963delinsGC p.M321S Missense 10/16 - 4
5-112154693-CT-GC c.964_965delinsGC p.L322A Missense 10/16 - 1
5-112154696-G-C c.967G>C p.G323R Missense 10/16 - 1
5-112154697-G-C c.968G>C p.G323A Missense 10/16 - 1
5-112154697-G-T c.968G>T p.G323V Missense 10/16 - 1
5-112154694-TTGGTACTCA-T c.968_976del p.G323_H325del InFrameDeletion 10/16 - 1
5-112154700-C-T c.971C>T p.T324I Missense 10/16 - 1
5-112154706-A-C c.977A>C p.D326A Missense 10/16 - 2
5-112154706-A-T c.977A>T p.D326V Missense 10/16 - 1
5-112154706-A-G c.977A>G p.D326G Missense 10/16 - 1
5-112154708-AA-GC c.979_980delinsGC p.K327A Missense 10/16 - 1
5-112154708-A-C c.979A>C p.K327Q Missense 10/16 - 1
5-112154711-G-A c.982G>A p.D328N Missense 10/16 - 1
5-112154711-G-T c.982G>T p.D328Y Missense 10/16 - 1
5-112154716-T-C c.987T>C p.D329= Synonymous 10/16 - 1
5-112154720-TC-GG c.991_992delinsGG p.S331G Missense 10/16 - 1
5-112154720-T-G c.991T>G p.S331A Missense 10/16 - 2
5-112154720-TC-GA c.991_992inv p.S331E Missense 10/16 - 1
5-112154721-C-T c.992C>T p.S331L Missense 10/16 - 1
5-112154723-C-T c.994C>T p.R332* Nonsense 10/16 - 13
5-112154724-G-T c.995G>T p.R332L Missense 10/16 - 1
5-112154724-G-A c.995G>A p.R332Q Missense 10/16 - 1
5-112154729-TT-GC c.1000_1001delinsGC p.L334A Missense 10/16 - 1
5-112154733-T-A c.1004T>A p.L335Q Missense 10/16 - 1
5-112154733-T-G c.1004T>G p.L335R Missense 10/16 - 1
5-112154734-A-C c.1005A>G p.L335= Synonymous 10/16 - 4
5-112154734-A-G c.1005A>G p.L335= Synonymous 10/16 - 1
5-112154735-G-C c.1006G>C p.A336P Missense 10/16 - 1
5-112154736-C-A c.1007C>A p.A336D Missense 10/16 - 1
5-112154738-A-G c.1009A>G p.M337V Missense 10/16 - 1
5-112154738-AT-GG c.1009_1010delinsGG p.M337G Missense 10/16 - 1
5-112154739-T-C c.1010T>C p.M337T Missense 10/16 - 1
5-112154742-C-A c.1013C>A p.S338Y Missense 10/16 - 1
5-112154742-C-G c.1013C>G p.S338C Missense 10/16 - 1
5-112154742-CT-AA c.1013_1014delinsAA p.S338* Nonsense 10/16 - 1
5-112154742-C-T c.1013C>T p.S338F Missense 10/16 - 1
5-112154747-TC-CG c.1018_1019delinsCG p.S340R Missense 10/16 - 1
5-112154750-C-T c.1021C>T p.Q341* Nonsense 10/16 - 1
5-112154752-A-G c.1023A>G p.Q341= Synonymous 10/16 - 1
5-112154753-G-A c.1024G>A p.D342N Missense 10/16 - 1
5-112154765-TC-CT c.1036_1037delinsCT p.S346L Missense 10/16 - 1
5-112154767-C-T c.1038C>T p.S346= Synonymous 10/16 - 1
5-112154767-C-G c.1038C>G p.S346= Synonymous 10/16 - 1
5-112154767-C-A c.1038C>A p.S346= Synonymous 10/16 - 1
5-112154771-C-T c.1042C>T p.R348* Nonsense 10/16 - 6
5-112154771-C-A c.1042C>A p.R348= Synonymous 10/16 - 1
5-112154773-A-C c.1044A>C p.R348= Synonymous 10/16 - 1
5-112154773-A-G c.1044A>G p.R348= Synonymous 10/16 - 1
5-112154773-A-T c.1044A>T p.R348= Synonymous 10/16 - 1
5-112154771-CG-GC c.1042_1043delinsGC p.R348A Missense 10/16 - 1
5-112154772-G-A c.1043G>A p.R348Q Missense 10/16 - 2
5-112154777-T-C c.1048T>C p.S350P Missense 10/16 - 1
5-112154777-TC-CT c.1048_1049delinsCT p.S350L Missense 10/16 - 1
5-112154777-T-G c.1048T>G p.S350A Missense 10/16 - 1
5-112154779-T-G c.1050T>G p.S350= Synonymous 10/16 - 1
5-112154779-T-C c.1050T>C p.S350= Synonymous 10/16 - 1
5-112154779-T-A c.1050T>A p.S350= Synonymous 10/16 - 1
5-112154783-TG-AT c.1054_1055delinsAT p.C352I Missense 10/16 - 1
5-112154784-G-C c.1055G>C p.C352S Missense 10/16 - 1
5-112154786-C-A c.1057C>A p.L353I Missense 10/16 - 1
5-112154789-C-T c.1060C>T p.P354S Missense 10/16 - 1
5-112154797-C-CA c.1069dup p.I357Nfs*8 Frameshift 10/16 - 1
5-112154801-C-T c.1072C>T p.Q358* Nonsense 10/16 - 1
5-112154804-C-A c.1075C>A p.L359I Missense 10/16 - 1
5-112154807-TT-CC c.1078_1079delinsCC p.L360P Missense 10/16 - 1
5-112154808-T-A c.1079T>A p.L360* Nonsense 10/16 - 4
5-112154808-T-G c.1079T>G p.L360* Nonsense 10/16 - 4
5-112154809-ACATGG-A c.1083_1087del p.H361Qfs*2 Frameshift 10/16 - 1
5-112154816-AA-GC c.1087_1088delinsGC p.N363A Missense 10/16 - 1
5-112154817-A-G c.1088A>G p.N363S Missense 10/16 - 2
5-112154819-G-A c.1090G>A p.D364N Missense 10/16 - 1
5-112154819-G-T c.1090G>T p.D364Y Missense 10/16 - 1
5-112154822-AA-GC c.1093_1094delinsGC p.K365A Missense 10/16 - 2
5-112154826-A-C c.1097A>C p.D366A Missense 10/16 - 1
5-112154826-ACT-A c.1100_1101del p.S367Cfs*10 Frameshift 10/16 - 3
5-112154830-T-TG c.1102dup p.V368Gfs*10 Frameshift 10/16 - 1
5-112154829-CTG-C c.1102_1103del p.V368Ifs*9 Frameshift 10/16 - 1
5-112154832-T-C c.1103T>C p.V368A Missense 10/16 - 1
5-112154834-TT-AG c.1105_1106delinsAG p.L369R Missense 10/16 - 1
5-112154835-T-A c.1106T>A p.L369* Nonsense 10/16 - 1
5-112154837-TTG-ATC c.1108_1110delinsATC p.L370I Missense 10/16 - 1
5-112154839-G-T c.1110G>T p.L370F Missense 10/16 - 1
5-112154839-G-C c.1110G>C p.L370F Missense 10/16 - 1
5-112154840-G-T c.1111G>T p.G371* Nonsense 10/16 - 1
5-112154843-A-G c.1114A>G p.N372D Missense 10/16 - 1
5-112154843-A-C c.1114A>C p.N372H Missense 10/16 - 1
5-112154846-T-C c.1117T>C p.S373P Missense 10/16 - 8
5-112154846-TC-GA c.1117_1118inv p.S373D Missense 10/16 - 1
5-112154847-C-G c.1118C>G p.S373C Missense 10/16 - 2
5-112154847-CC-AA c.1118_1119delinsAA p.S373* Nonsense 10/16 - 1
5-112154849-C-T c.1120C>T p.R374W Missense 10/16 - 2
5-112154846-T-TC c.1120dup p.R374Pfs*4 Frameshift 10/16 - 1
5-112154850-G-A c.1121G>A p.R374Q Missense 10/16 - 2
5-112154849-CG-C c.1124del p.G375Afs*79 Frameshift 10/16 - 1
5-112154855-AG-GC c.1126_1127delinsGC p.S376A Missense 10/16 - 1
5-112154865-C-G c.1136C>G p.A379G Missense 10/16 - 1
5-112154868-G-A c.1139G>A p.R380Q Missense 10/16 - 1
5-112154868-G-T c.1139G>T p.R380L Missense 10/16 - 1
5-112154870-G-A c.1141G>A p.A381T Missense 10/16 - 1
5-112154873-AGG-CAT c.1144_1146delinsCAT p.R382H Missense 10/16 - 1
5-112154873-AG-GA c.1144_1145delinsGA p.R382E Missense 10/16 - 1
5-112154873-AGG-TGT c.1144_1146delinsTGT p.R382C Missense 10/16 - 1
5-112154874-G-A c.1145G>A p.R382K Missense 10/16 - 5
5-112154875-G-C c.1146G>C p.R382S Missense 10/16 - 1
5-112154875-G-T c.1146G>T p.R382S Missense 10/16 - 1
5-112154879-AG-GC c.1150_1151delinsGC p.S384A Missense 10/16 - 1
5-112154879-AG-TT c.1150_1151delinsTT p.S384F Missense 10/16 - 1
5-112154879-A-G c.1150A>G p.S384G Missense 10/16 - 1
5-112154881-T-TCC c.1152_1153insCC p.A385Pfs*70 Frameshift 10/16 - 1
5-112154882-G-A c.1153G>A p.A385T Missense 10/16 - 1
5-112154884-A-T c.1155A>T p.A385= Synonymous 10/16 - 1
5-112154885-G-A c.1156G>A p.A386T Missense 10/16 - 1
5-112154885-GCA-G c.1158_1159del p.L387Pfs*9 Frameshift 10/16 - 1
5-112154888-C-T c.1159C>T p.L387F Missense 10/16 - 1
5-112154888-CT-TG c.1159_1160delinsTG p.L387C Missense 10/16 - 1
5-112154888-C-G c.1159C>G p.L387V Missense 10/16 - 1
5-112154889-T-C c.1160T>C p.L387P Missense 10/16 - 1
5-112154891-CA-GC c.1162_1163delinsGC p.H388A Missense 10/16 - 1
5-112154894-A-G c.1165A>G p.N389D Missense 10/16 - 1
5-112154900-A-T c.1171A>T p.I391F Missense 10/16 - 1
5-112154901-TT-AG c.1172_1173delinsAG p.I391K Missense 10/16 - 1
5-112154902-T-G c.1173T>G p.I391M Missense 10/16 - 1
5-112154903-C-T c.1174C>T p.H392Y Missense 10/16 - 1
5-112154905-C-T c.1176C>T p.H392= Synonymous 10/16 - 1
5-112154907-C-A c.1178C>A p.S393* Nonsense 10/16 - 1
5-112154907-CA-GT c.1178_1179delinsGT p.S393C Missense 10/16 - 1
5-112154909-C-T c.1180C>T p.Q394* Nonsense 10/16 - 1
5-112154915-G-T c.1186G>T p.D396Y Missense 10/16 - 1
5-112154914-T-TGG c.1186_1187insGG p.D396Gfs*59 Frameshift 10/16 - 1
5-112154917-T-G c.1188T>G p.D396E Missense 10/16 - 1
5-112154917-T-A c.1188T>A p.D396E Missense 10/16 - 1
5-112154921-CAA-C c.1192_1193del p.K398Efs*5 Frameshift 10/16 - 2
5-112154924-AG-CA c.1195_1196delinsCA p.R399Q Missense 10/16 - 19
5-112154924-AG-GC c.1195_1196delinsGC p.R399A Missense 10/16 - 1
5-112154924-GA-G c.1195del p.R399Efs*55 Frameshift 10/16 - 1
5-112154924-AGA-TGT c.1195_1197delinsTGT p.R399C Missense 10/16 - 1
5-112154924-AG-CC c.1195_1196delinsCC p.R399P Missense 10/16 - 1
5-112154928-G-T c.1199G>T p.G400V Missense 10/16 - 3
5-112154933-C-T c.1204C>T p.R402C Missense 10/16 - 2
5-112154933-CGT-TGG c.1204_1206delinsTGG p.R402W Missense 10/16 - 1
5-112154935-GT-G c.1206del p.E403Kfs*51 Frameshift 10/16 - 2
5-112154942-C-T c.1213C>T p.R405* Nonsense 10/16 - 10
5-112154943-G-A c.1214G>A p.R405Q Missense 10/16 - 1
5-112154946-TC-T c.1219del p.L407Ffs*47 Frameshift 10/16 - 1
5-112154954-C-G c.1225C>G p.L409V Missense 10/16 - 1
5-112154954-C-A c.1225C>A p.L409I Missense 10/16 - 1
5-112154957-TT-AG c.1228_1229delinsAG p.L410R Missense 10/16 - 1
5-112154958-T-A c.1229T>A p.L410* Nonsense 10/16 - 1
5-112154961-A-T c.1232A>T p.E411V Missense 10/16 - 1
5-112154962-A-C c.1233A>C p.E411D Missense 10/16 - 1
5-112154962-A-T c.1233A>T p.E411D Missense 10/16 - 1
5-112154963-C-T c.1234C>T p.Q412* Nonsense 10/16 - 3
5-112154967-T-C c.1238T>C p.I413T Missense 10/16 - 1
5-112154967-T-TA c.1239dup p.R414Tfs*5 Frameshift 10/16 - 1
5-112154969-C-A c.1240C>A p.R414S Missense 10/16 - 1
5-112154969-C-G c.1240C>G p.R414G Missense 10/16 - 1
5-112154969-C-T c.1240C>T p.R414C Missense 10/16 - 9
5-112154969-AC-A c.1240del p.R414Afs*40 Frameshift 10/16 - 2
5-112154969-CGC-TGA c.1240_1242delinsTGA p.R414* Nonsense 10/16 - 1
5-112154969-CG-AC c.1240_1241delinsAC p.R414T Missense 10/16 - 1
5-112154969-CGC-AAG c.1240_1242delinsAAG p.R414K Missense 10/16 - 1
5-112154970-G-T c.1241G>T p.R414L Missense 10/16 - 2
5-112154970-G-A c.1241G>A p.R414H Missense 10/16 - 1
5-112154971-C-A c.1242C>A p.R414= Synonymous 10/16 - 1
5-112154971-C-G c.1242C>G p.R414= Synonymous 10/16 - 1
5-112154971-C-T c.1242C>T p.R414= Synonymous 10/16 - 2
5-112154971-GC-G c.1242del p.A415Lfs*39 Frameshift 10/16 - 1
5-112154972-G-A c.1243G>A p.A415T Missense 10/16 - 1
5-112154975-T-C c.1246T>C p.Y416H Missense 10/16 - 1
5-112154977-C-A c.1248C>A p.Y416* Nonsense 10/16 - 1
5-112154977-C-CT c.1249dup p.C417Lfs*2 Frameshift 10/16 - 1
5-112154978-CT-C c.1249del p.C417Vfs*37 Frameshift 10/16 - 1
5-112154980-GT-G c.1251del p.C417Wfs*37 Frameshift 10/16 - 1
5-112154981-G-A c.1252G>A p.E418K Missense 10/16 - 1
5-112154981-G-C c.1252G>C p.E418Q Missense 10/16 - 1
5-112154981-G-T c.1252G>T p.E418* Nonsense 10/16 - 1
5-112154981-GA-G c.1255del p.T419Pfs*35 Frameshift 10/16 - 1
5-112154987-T-C c.1258T>C p.C420R Missense 10/16 - 2
5-112154991-G-A c.1262G>A p.W421* Nonsense 10/16 - 6
5-112154991-GG-AA c.1262_1263delinsAA p.W421* Missense 10/16 - 1
5-112154992-G-A c.1263G>A p.W421* Nonsense 10/16 - 3
5-112154992-G-T c.1263G>T p.W421C Missense 10/16 - 1
5-112154992-G-C c.1263G>C p.W421C Missense 10/16 - 1
5-112154993-G-T c.1264G>T p.E422* Nonsense 10/16 - 1
5-112154996-TGG-CAT c.1267_1269delinsCAT p.W423H Missense 10/16 - 2
5-112154997-G-A c.1268G>A p.W423* Nonsense 10/16 - 3
5-112154998-G-A c.1269G>A p.W423* Nonsense 10/16 - 3
5-112154999-GC-G c.1270del p.Q424Rfs*30 Frameshift 10/16 - 1
5-112155000-CA-C c.1271del p.Q424Rfs*30 Frameshift 10/16 - 1
5-112155001-G-GT c.1272_1273insT p.E425* Nonsense 10/16 - 1
5-112155002-G-T c.1273G>T p.E425* Nonsense 10/16 - 2
5-112155005-G-T c.1276G>T p.A426S Missense 10/16 - 5
5-112155012-A-C c.1283A>C p.E428A Missense 10/16 - 1
5-112155011-GA-G c.1284del p.E428Dfs*26 Frameshift 10/16 - 1
5-112155014-C-T c.1285C>T p.P429S Missense 10/16 - 1
5-112155013-AC-A c.1286del p.P429Qfs*25 Frameshift 10/16 - 2
5-112155017-GG-TT c.1288_1289delinsTT p.G430F Missense 10/16 - 1
5-112155018-G-A c.1289G>A p.G430D Missense 10/16 - 1
5-112155016-AGGCATGGACCAG-A c.1289_1300del p.G430_Q433del InFrameDeletion 10/16 - 1
5-112155022-G-GT c.1293_1294insT p.D432* Nonsense 10/16 - 1
5-112155026-C-T c.1297C>T p.Q433* Nonsense 10/16 - 1
5-112155027-A-G c.1298A>G p.Q433R Missense 10/16 - 1
5-112155031-C-CT c.1302_1303insT p.K435* Nonsense 10/16 - 1
5-112155032-AA-GC c.1303_1304delinsGC p.K435A Missense 10/16 - 5
5-112155032-AA-GT c.1303_1304delinsGT p.K435V Missense 10/16 - 1
5-112155032-A-G c.1303A>G p.K435E Missense 10/16 - 1
5-112155032-A-C c.1303A>C p.K435Q Missense 10/16 - 1
5-112155033-A-G c.1304A>G p.K435R Missense 10/16 - 1
5-112155034-A-AT c.1305_1306insT p.N436* Nonsense 10/16 - 1
5-112155031-C-CA c.1307dup p.N436Kfs*8 Frameshift 10/16 - 1
5-112155039-C-T c.1310C>T p.P437L Missense 10/16 - 1
5-112155042-G-A c.1312+1G>A - IntronicSNV - 10/15 6
5-112155042-G-C c.1312+1G>C - IntronicSNV - 10/15 1
5-112155043-T-G c.1312+2T>G - IntronicSNV - 10/15 1
5-112155042-G-GT c.1312+2dup - IntronicInsertion - 10/15 1
5-112155043-T-C c.1312+2T>C - IntronicSNV - 10/15 2
5-112155043-T-A c.1312+2T>A - IntronicSNV - 10/15 1
5-112155044-A-G c.1312+3A>G - IntronicSNV - 10/15 1
5-112155045-T-G c.1312+4T>G - IntronicSNV - 10/15 2
5-112155046-G-A c.1312+5G>A - IntronicSNV - 10/15 2
5-112155044-ATGTTC-A c.1312+5_1312+9del - IntronicDeletion - 10/15 1
5-112155068-G-A c.1312+27G>A - IntronicSNV - 10/15 1
5-112155793-G-A c.1312+752G>A - IntronicSNV - 10/15 1
5-112155793-G-C c.1312+752G>C - IntronicSNV - 10/15 1
5-112155793-G-T c.1312+752G>T - IntronicSNV - 10/15 1
5-112157532-A-G c.1313-61A>G - IntronicSNV - 10/15 1
5-112157592-G-GT c.1313dup p.M438Ifs*6 SpliceAcceptorInsertion 11/16 - 1
5-112157593-T-C c.1313T>C p.M438T Missense 11/16 - 1
5-112157595-C-A c.1315C>A p.P439T Missense 11/16 - 1
5-112157597-CA-C c.1317del p.A440Lfs*14 Frameshift 11/16 - 3
5-112157598-G-A c.1318G>A p.A440T Missense 11/16 - 1
5-112157601-C-A c.1321C>A p.P441T Missense 11/16 - 1
5-112157602-C-T c.1322C>T p.P441L Missense 11/16 - 1
5-112157605-T-C c.1325T>C p.V442A Missense 11/16 - 1
5-112157607-G-T c.1327G>T p.E443* Nonsense 11/16 - 3
5-112157607-G-A c.1327G>A p.E443K Missense 11/16 - 1
5-112157613-C-T c.1333C>T p.Q445* Nonsense 11/16 - 3
5-112157616-A-G c.1336A>G p.I446V Missense 11/16 - 1
5-112157617-TCTGTCCTG-T c.1342_1349del p.P448Vfs*9 Frameshift 11/16 - 1
5-112157623-C-A c.1343C>A p.P448H Missense 11/16 - 1
5-112157629-T-C c.1349T>C p.V450A Missense 11/16 - 1
5-112157633-T-A c.1353T>A p.C451* Nonsense 11/16 - 1
5-112157626-CTG-C c.1354_1355del p.V452Sfs*7 Frameshift 11/16 - 1
5-112157644-AAACTT-A c.1364_1368del p.K455Ifs*3 Frameshift 11/16 - 1
5-112157645-A-C c.1365A>C p.K455N Missense 11/16 - 1
5-112157645-A-T c.1365A>T p.K455N Missense 11/16 - 1
5-112157645-ACTTT-A c.1367_1370del p.L456Hfs*10 Frameshift 11/16 - 1
5-112157650-C-A c.1370C>A p.S457* Nonsense 11/16 - 3
5-112157650-C-G c.1370C>G p.S457* Nonsense 11/16 - 3
5-112157652-TTT-AAG c.1372_1374delinsAAG p.F458K Missense 11/16 - 1
5-112157652-T-C c.1372T>C p.F458L Missense 11/16 - 1
5-112157655-G-C c.1375G>C p.D459H Missense 11/16 - 1
5-112157658-G-T c.1378G>T p.E460* Nonsense 11/16 - 2
5-112157659-A-C c.1379A>C p.E460A Missense 11/16 - 1
5-112157659-A-T c.1379A>T p.E460V Missense 11/16 - 1
5-112157661-G-C c.1381G>C p.E461Q Missense 11/16 - 1
5-112157661-G-T c.1381G>T p.E461* Nonsense 11/16 - 2
5-112157662-A-C c.1382A>C p.E461A Missense 11/16 - 2
5-112157663-AGCATAGAC-A c.1383_1390del p.H462Cfs*4 Frameshift 11/16 - 1
5-112157664-CAT-TAA c.1384_1386delinsTAA p.H462* Nonsense 11/16 - 1
5-112157665-CA-C c.1385del p.H462Lfs*5 Frameshift 11/16 - 1
5-112157665-A-G c.1385A>G p.H462R Missense 11/16 - 1
5-112157667-A-T c.1387A>T p.R463* Nonsense 11/16 - 1
5-112157667-AGA-TGT c.1387_1389delinsTGT p.R463C Missense 11/16 - 1
5-112157668-G-A c.1388G>A p.R463K Missense 11/16 - 1
5-112157671-A-G c.1391A>G p.H464R Missense 11/16 - 1
5-112157671-A-T c.1391A>T p.H464L Missense 11/16 - 1
5-112157672-T-G c.1392T>G p.H464Q Missense 11/16 - 1
5-112157673-G-A c.1393G>A p.A465T Missense 11/16 - 1
5-112157682-G-T c.1402G>T p.E468* Nonsense 11/16 - 1
5-112157688-G-C c.1408G>C p.G470R Missense 11/16 - 2
5-112157688-G-A c.1408G>A p.G470R Missense 11/16 - 3
5-112158417-A-G c.1408+729A>G - IntronicSNV - 11/15 1
5-112158419-C-T c.1408+731C>T - IntronicSNV - 11/15 1
5-112158431-G-A c.1408+743G>A - IntronicSNV - 11/15 2
5-112161469-C-A c.1409-1336C>A - IntronicSNV - 11/15 2
5-112162807-GGA-AGC c.1411_1413delinsAGC p.G471S Missense 12/16 - 1
5-112162807-G-T c.1411G>T p.G471* Nonsense 12/16 - 3
5-112162807-G-A c.1411G>A p.G471R Missense 12/16 - 1
5-112162807-G-C c.1411G>C p.G471R Missense 12/16 - 1
5-112162803-AG-A c.1412del p.G471Dfs*27 Frameshift 12/16 - 2
5-112162810-CTA-TTT c.1414_1416delinsTTT p.L472F Missense 12/16 - 1
5-112162810-CT-GC c.1414_1415delinsGC p.L472A Missense 12/16 - 1
5-112162813-AC-A c.1417del p.Q473Rfs*25 Frameshift 12/16 - 1
5-112162815-G-A c.1419G>A p.Q473= Synonymous 12/16 - 1
5-112162822-G-A c.1426G>A p.A476T Missense 12/16 - 1
5-112162825-G-T c.1429G>T p.E477* Nonsense 12/16 - 2
5-112162827-A-C c.1431A>C p.E477D Missense 12/16 - 1
5-112162827-A-T c.1431A>T p.E477D Missense 12/16 - 1
5-112162829-T-G c.1433T>G p.L478* Nonsense 12/16 - 1
5-112162830-TA-T c.1434del p.L478Ffs*20 Frameshift 12/16 - 1
5-112162832-T-C c.1436T>C p.L479S Missense 12/16 - 3
5-112162833-G-T c.1437G>T p.L479F Missense 12/16 - 1
5-112162833-G-C c.1437G>C p.L479F Missense 12/16 - 1
5-112162834-C-T c.1438C>T p.Q480* Nonsense 12/16 - 3
5-112162837-G-T c.1441G>T p.V481L Missense 12/16 - 2
5-112162840-G-T c.1444G>T p.D482Y Missense 12/16 - 1
5-112162841-A-G c.1445A>G p.D482G Missense 12/16 - 1
5-112162843-T-A c.1447T>A p.C483S Missense 12/16 - 1
5-112162844-G-C c.1448G>C p.C483S Missense 12/16 - 1
5-112162846-G-C c.1450G>C p.E484Q Missense 12/16 - 33
5-112162846-G-A c.1450G>A p.E484K Missense 12/16 - 114
5-112162846-GA-AG c.1450_1451delinsAG p.E484R Missense 12/16 - 1
5-112162846-G-T c.1450G>T p.E484* Nonsense 12/16 - 1
5-112162847-A-C c.1451A>C p.E484A Missense 12/16 - 19
5-112162849-A-C c.1453A>C p.M485L Missense 12/16 - 1
5-112162851-G-T c.1455G>T p.M485I Missense 12/16 - 1
5-112162851-G-A c.1455G>A p.M485I Missense 12/16 - 1
5-112162851-G-C c.1455G>C p.M485I Missense 12/16 - 1
5-112162854-T-C c.1458T>C p.Y486= Synonymous 12/16 - 46
5-112162854-T-G c.1458T>G p.Y486* Nonsense 12/16 - 28
5-112162854-TGG-CGA c.1458_1460delinsCGA p.G487E Missense 12/16 - 1
5-112162855-G-A c.1459G>A p.G487R Missense 12/16 - 1
5-112162855-G-T c.1459G>T p.G487W Missense 12/16 - 1
5-112162856-G-C c.1460G>C p.G487A Missense 12/16 - 1
5-112162862-C-T c.1466C>T p.T489I Missense 12/16 - 1
5-112162867-G-T c.1471G>T p.D491Y Missense 12/16 - 1
5-112162869-C-A c.1473C>A p.D491E Missense 12/16 - 1
5-112162873-TAC-CAA c.1477_1479delinsCAA p.Y493Q Missense 12/16 - 2
5-112162872-C-CT c.1477dup p.Y493Lfs*44 Frameshift 12/16 - 1
5-112162872-CTACAG-C c.1479_1483del p.S494Yfs*41 Frameshift 12/16 - 1
5-112162876-AG-CC c.1480_1481delinsCC p.S494P Missense 12/16 - 3
5-112162877-G-T c.1481G>T p.S494I Missense 12/16 - 1
5-112162878-T-G c.1482T>G p.S494R Missense 12/16 - 1
5-112162878-T-A c.1482T>A p.S494R Missense 12/16 - 1
5-112162876-A-C c.1480A>C p.S494R Missense 12/16 - 1
5-112162882-AC-GG c.1486_1487delinsGG p.T496G Missense 12/16 - 1
5-112162884-A-T c.1488A>T p.T496= Synonymous 12/16 - 3
5-112162884-A-G c.1488A>G p.T496= Synonymous 12/16 - 1
5-112162884-A-C c.1488A>C p.T496= Synonymous 12/16 - 1
5-112162885-C-T c.1489C>T p.L497= Synonymous 12/16 - 1
5-112162886-CT-C c.1490del p.L497Qfs*9 Frameshift 12/16 - 1
5-112162885-C-CT c.1490dup p.R498Kfs*39 Frameshift 12/16 - 1
5-112162891-C-T c.1495C>T p.R499* Nonsense 12/16 - 30
5-112162891-C-G c.1495C>G p.R499G Missense 12/16 - 1
5-112162891-CG-GA c.1495_1496delinsGA p.R499E Missense 12/16 - 1
5-112162892-G-T c.1496G>T p.R499L Missense 12/16 - 1
5-112162896-T-A c.1500T>A p.Y500* Nonsense 12/16 - 2
5-112162897-GC-TG c.1501_1502delinsTG p.A501C Missense 12/16 - 3
5-112162897-G-A c.1501G>A p.A501T Missense 12/16 - 1
5-112162898-CT-AG c.1502_1503inv p.A501E Missense 12/16 - 1
5-112162898-C-T c.1502C>T p.A501V Missense 12/16 - 2
5-112162900-G-T c.1504G>T p.G502* Nonsense 12/16 - 1
5-112162901-G-A c.1505G>A p.G502E Missense 12/16 - 2
5-112162907-C-T c.1511C>T p.A504V Missense 12/16 - 1
5-112162909-TTG-GAC c.1513_1515delinsGAC p.L505D Missense 12/16 - 1
5-112162912-ACA-TGT c.1516_1518inv p.T506C Missense 12/16 - 1
5-112162913-C-T c.1517C>T p.T506I Missense 12/16 - 1
5-112162917-C-G c.1521C>G p.N507K Missense 12/16 - 7
5-112162917-C-A c.1521C>A p.N507K Missense 12/16 - 7
5-112162917-ACTT-A c.1521_1523del p.N507_L508delinsK MultiAAMissense 12/16 - 1
5-112162924-TTT-AAG c.1528_1530delinsAAG p.F510K Missense 12/16 - 1
5-112162922-CT-C c.1530del p.F510Lfs*4 Frameshift 12/16 - 1
5-112162928-GA-AC c.1532_1533delinsAC p.G511D Missense 12/16 - 1
5-112162934-T-A c.1538T>A p.V513E Missense 12/16 - 1
5-112162934-GT-G c.1538del p.V513Efs*10 Frameshift 12/16 - 1
5-112162936-AG-A c.1540del p.A514Pfs*9 Frameshift 12/16 - 1
5-112162937-C-T c.1541C>T p.A514V Missense 12/16 - 1
5-112162940-A-G c.1544A>G p.N515S Missense 12/16 - 1
5-112162942-A-G c.1546A>G p.K516E Missense 12/16 - 1
5-112162943-AAGG-A c.1547_1548+1del - SpliceDonorDeletion 12/16 12/15 1
5-112162944-G-C c.1548G>C p.K516N Missense 12/16 - 5
5-112162944-G-T c.1548G>T p.K516N Missense 12/16 - 1
5-112162944-G-A c.1548G>A p.K516= Synonymous 12/16 - 2
5-112162945-G-A c.1548+1G>A - IntronicSNV - 12/15 2
5-112163077-C-A c.1548+133C>A - IntronicSNV - 12/15 1
5-112163238-G-GT c.1548+297dup - IntronicInsertion - 12/15 1
5-112163626-G-A c.1549G>A p.A517T Missense 13/16 - 1
5-112163627-GCTACGCTATGCTCTATGAAAGGCTGCATGAGAGCACTTGTGGCCCAACTAAAATCTGAA-G c.1550_1608del p.A517Efs*2 InFrameDeletion 13/16 - 1
5-112163629-A-G c.1552A>G p.T518A Missense 13/16 - 1
5-112163630-C-T c.1553C>T p.T518M Missense 13/16 - 2
5-112163631-G-T c.1554G>T p.T518= Synonymous 13/16 - 1
5-112163631-G-GC c.1555dup p.L519Pfs*18 Frameshift 13/16 - 1
5-112163630-CGCTAT-C c.1557_1561del p.C520Yfs*15 Frameshift 13/16 - 1
5-112163635-T-TAA c.1558_1559insAA p.C520* Nonsense 13/16 - 1
5-112163634-ATGCTC-A c.1559_1563del p.C520Yfs*15 Frameshift 13/16 - 2
5-112163643-G-GT c.1566_1567insT p.K523* Nonsense 13/16 - 1
5-112163644-A-T c.1567A>T p.K523* Nonsense 13/16 - 1
5-112163647-GG-AC c.1570_1571delinsAC p.G524T Missense 13/16 - 1
5-112163648-G-C c.1571G>C p.G524A Missense 13/16 - 2
5-112163650-TG-GC c.1573_1574delinsGC p.C525A Missense 13/16 - 1
5-112163652-C-A c.1575C>A p.C525* Nonsense 13/16 - 2
5-112163653-A-C c.1576A>C p.M526L Missense 13/16 - 1
5-112163653-A-T c.1576A>T p.M526L Missense 13/16 - 1
5-112163655-G-T c.1578G>T p.M526I Missense 13/16 - 1
5-112163656-A-G c.1579A>G p.R527G Missense 13/16 - 1
5-112163656-AGAGCACTTGT-A c.1581_1590del p.A528Pfs*3 Frameshift 13/16 - 1
5-112163659-GC-AG c.1582_1583delinsAG p.A528R Missense 13/16 - 1
5-112163660-C-T c.1583C>T p.A528V Missense 13/16 - 2
5-112163660-C-CA c.1584dup p.L529Tfs*8 Frameshift 13/16 - 1
5-112163662-C-T c.1585C>T p.L529F Missense 13/16 - 1
5-112163662-C-CTA c.1586_1587insAT p.V530Lfs*5 Frameshift 13/16 - 1
5-112163665-G-C c.1588G>C p.V530L Missense 13/16 - 1
5-112163665-G-T c.1588G>T p.V530L Missense 13/16 - 1
5-112163669-C-T c.1592C>T p.A531V Missense 13/16 - 1
5-112163671-C-T c.1594C>T p.Q532* Nonsense 13/16 - 1
5-112163672-A-G c.1595A>G p.Q532R Missense 13/16 - 1
5-112163674-CT-TC c.1597_1598delinsTC p.L533S Missense 13/16 - 1
5-112163677-A-T c.1600A>T p.K534* Nonsense 13/16 - 3
5-112163675-TA-T c.1602del p.K534Nfs*15 Frameshift 13/16 - 1
5-112163682-CTG-C c.1605_1606del p.E536Kfs*2 Frameshift 13/16 - 2
5-112163683-G-T c.1606G>T p.E536* Nonsense 13/16 - 1
5-112163683-G-A c.1606G>A p.E536K Missense 13/16 - 1
5-112163687-G-A c.1610G>A p.S537N Missense 13/16 - 1
5-112163689-G-A c.1612G>A p.E538K Missense 13/16 - 1
5-112163689-G-T c.1612G>T p.E538* Nonsense 13/16 - 1
5-112163690-A-T c.1613A>T p.E538V Missense 13/16 - 1
5-112163694-C-G c.1617C>G p.D539E Missense 13/16 - 1
5-112163695-T-G c.1618T>G p.L540V Missense 13/16 - 1
5-112163696-T-A c.1619T>A p.L540* Nonsense 13/16 - 1
5-112163696-T-G c.1619T>G p.L540* Nonsense 13/16 - 1
5-112163696-T-TA c.1620dup p.Q541Tfs*19 Frameshift 13/16 - 6
5-112163698-ACAGCAGGTACTAT-A c.1621_1626+7del - SpliceDonorDeletion 13/16 13/15 1
5-112163698-C-T c.1621C>T p.Q541* Nonsense 13/16 - 5
5-112163698-CA-AC c.1621_1622delinsAC p.Q541T Missense 13/16 - 1
5-112163701-C-T c.1624C>T p.Q542* Nonsense 13/16 - 3
5-112163701-C-A c.1624C>A p.Q542K Missense 13/16 - 1
5-112163703-G-C c.1626G>C p.Q542H Missense 13/16 - 1
5-112163791-T-G c.1626+88T>G - IntronicSNV - 13/15 1
5-112163818-T-C c.1626+115T>C - IntronicSNV - 13/15 1
5-112163819-G-A c.1626+116G>A - IntronicSNV - 13/15 1
5-112163825-A-C c.1626+122A>C - IntronicSNV - 13/15 1
5-112163839-C-T c.1626+136C>T - IntronicSNV - 13/15 1
5-112163855-C-T c.1626+152C>T - IntronicSNV - 13/15 1
5-112164553-G-T c.1627G>T p.V543F Missense 14/16 - 1
5-112164552-GGTTATTGCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAAAAGAC-G c.1630_1688del p.I544Afs*17 InFrameDeletion 14/16 - 1
5-112164556-A-C c.1630A>C p.I544L Missense 14/16 - 1
5-112164557-T-C c.1631T>C p.I544T Missense 14/16 - 2
5-112164559-G-A c.1633G>A p.A545T Missense 14/16 - 3
5-112164559-GC-AA c.1633_1634delinsAA p.A545K Missense 14/16 - 1
5-112164561-G-C c.1635G>C p.A545= Synonymous 14/16 - 11
5-112164561-G-A c.1635G>A p.A545= Synonymous 14/16 - 18
5-112164561-G-T c.1635G>T p.A545= Synonymous 14/16 - 1
5-112164562-A-G c.1636A>G p.S546G Missense 14/16 - 1
5-112164568-T-TAA c.1642_1643insAA p.L548* Nonsense 14/16 - 1
5-112164569-TTG-T c.1643_1644del p.L548* Frameshift 14/16 - 1
5-112164565-G-GT c.1643dup p.L548Ffs*12 Frameshift 14/16 - 1
5-112164570-G-T c.1644G>T p.L548F Missense 14/16 - 1
5-112164570-G-C c.1644G>C p.L548F Missense 14/16 - 1
5-112164571-AG-CT c.1645_1646inv p.R549L Missense 14/16 - 1
5-112164576-T-G c.1650T>G p.N550K Missense 14/16 - 2
5-112164576-T-A c.1650T>A p.N550K Missense 14/16 - 5
5-112164580-T-G c.1654T>G p.S552A Missense 14/16 - 3
5-112164580-T-C c.1654T>C p.S552P Missense 14/16 - 1
5-112164580-TC-GA c.1654_1655inv p.S552D Missense 14/16 - 2
5-112164584-G-A c.1658G>A p.W553* Nonsense 14/16 - 1
5-112164585-G-A c.1659G>A p.W553* Nonsense 14/16 - 3
5-112164585-G-T c.1659G>T p.W553C Missense 14/16 - 1
5-112164585-G-C c.1659G>C p.W553C Missense 14/16 - 1
5-112164586-C-T c.1660C>T p.R554* Nonsense 14/16 - 26
5-112164586-CG-AC c.1660_1661delinsAC p.R554T Missense 14/16 - 1
5-112164587-G-T c.1661G>T p.R554L Missense 14/16 - 1
5-112164587-G-C c.1661G>C p.R554P Missense 14/16 - 1
5-112164593-A-T c.1667A>T p.D556V Missense 14/16 - 1
5-112164596-T-C c.1670T>C p.V557A Missense 14/16 - 1
5-112164604-A-T c.1678A>T p.K560* Nonsense 14/16 - 1
5-112164604-A-G c.1678A>G p.K560E Missense 14/16 - 1
5-112164606-A-AT c.1680_1681insT p.K561* Nonsense 14/16 - 1
5-112164603-TA-T c.1682del p.K561Rfs*9 Frameshift 14/16 - 2
5-112164603-T-TA c.1682dup p.T562Dfs*19 Frameshift 14/16 - 1
5-112164607-AAG-A c.1683_1684del p.K561Nfs*19 Frameshift 14/16 - 1
5-112164609-G-C c.1683G>C p.K561N Missense 14/16 - 1
5-112164609-G-T c.1683G>T p.K561N Missense 14/16 - 1
5-112164610-ACG-GAC c.1684_1686delinsGAC p.T562D Missense 14/16 - 1
5-112164610-A-G c.1684A>G p.T562A Missense 14/16 - 1
5-112164611-C-T c.1685C>T p.T562M Missense 14/16 - 1
5-112164611-CG-AC c.1685_1686delinsAC p.T562N Missense 14/16 - 1
5-112164610-A-ACC c.1685_1686insCC p.L563Rfs*8 Frameshift 14/16 - 1
5-112164612-GT-G c.1688del p.L563Cfs*7 Frameshift 14/16 - 1
5-112164616-C-T c.1690C>T p.R564* Nonsense 14/16 - 29
5-112164616-GC-G c.1690del p.R564Efs*6 Frameshift 14/16 - 1
5-112164617-G-A c.1691G>A p.R564Q Missense 14/16 - 4
5-112164621-A-G c.1695A>G p.E565= Synonymous 14/16 - 1
5-112164622-GTT-TAA c.1696_1698delinsTAA p.V566* Nonsense 14/16 - 1
5-112164622-G-A c.1696G>A p.V566I Missense 14/16 - 1
5-112164622-GT-G c.1698del p.G567Efs*3 Frameshift 14/16 - 1
5-112164625-G-T c.1699G>T p.G567* Nonsense 14/16 - 2
5-112164625-GGAAGT-G c.1701_1705del p.S568Efs*11 Frameshift 14/16 - 1
5-112164629-G-A c.1703G>A p.S568N Missense 14/16 - 1
5-112164631-G-A c.1705G>A p.V569M Missense 14/16 - 1
5-112164634-A-G c.1708A>G p.K570E Missense 14/16 - 1
5-112164637-G-A c.1711G>A p.A571T Missense 14/16 - 1
5-112164638-GC-G c.1712del p.A571Dfs*2 Frameshift 14/16 - 1
5-112164643-A-T c.1717A>T p.M573L Missense 14/16 - 2
5-112164643-A-C c.1717A>C p.M573L Missense 14/16 - 1
5-112164646-G-A c.1720G>A p.E574K Missense 14/16 - 1
5-112164649-T-A c.1723T>A p.C575S Missense 14/16 - 1
5-112164650-G-C c.1724G>C p.C575S Missense 14/16 - 1
5-112164649-TG-GC c.1723_1724delinsGC p.C575A Missense 14/16 - 1
5-112164657-A-T c.1731A>T p.L577F Missense 14/16 - 1
5-112164658-G-T c.1732G>T p.E578* Nonsense 14/16 - 1
5-112164661-GTT-ATG c.1735_1737delinsATG p.V579M Missense 14/16 - 1
5-112164661-G-GT c.1737dup p.K580* Nonsense 14/16 - 2
5-112164664-A-T c.1738A>T p.K580* Nonsense 14/16 - 1
5-112164666-A-AT c.1740_1741insT p.K581* Nonsense 14/16 - 1
5-112164668-A-G c.1742A>G p.K581R Missense 14/16 - 4
5-112164668-A-C c.1742A>C p.K581T Missense 14/16 - 1
5-112164663-TA-T c.1742del p.K581Rfs*9 Frameshift 14/16 - 3
5-112164663-T-TA c.1742dup p.E582Gfs*20 SpliceDonorInsertion 14/16 - 1
5-112164669-G-C c.1743G>C p.K581N Missense 14/16 - 1
5-112164669-G-T c.1743G>T p.K581N Missense 14/16 - 1
5-112164862-G-A c.1743+193G>A - IntronicSNV - 14/15 1
5-112164862-G-T c.1743+193G>T - IntronicSNV - 14/15 1
5-112167308-T-C c.1743+2639T>C - IntronicSNV - 14/15 3
5-112167587-T-C c.1743+2918T>C - IntronicSNV - 14/15 1
5-112167587-T-G c.1743+2918T>G - IntronicSNV - 14/15 1
5-112168065-A-G c.1744-2583A>G - IntronicSNV - 14/15 1
5-112170358-G-A c.1744-290G>A - IntronicSNV - 14/15 1
5-112170646-A-AG c.1744dup p.E582Gfs*20 SpliceAcceptorInsertion 15/16 - 1
5-112170648-G-T c.1744G>T p.E582* Nonsense 15/16 - 5
5-112170648-G-A c.1744G>A p.E582K Missense 15/16 - 2
5-112170648-GA-G c.1746del p.E582Dfs*8 Frameshift 15/16 - 1
5-112170652-C-A c.1748C>A p.S583* Nonsense 15/16 - 3
5-112170651-T-TC c.1748dup p.T584Nfs*18 Frameshift 15/16 - 1
5-112170652-C-G c.1748C>G p.S583* Nonsense 15/16 - 1
5-112170657-C-T c.1753C>T p.L585F Missense 15/16 - 1
5-112170660-A-T c.1756A>T p.K586* Nonsense 15/16 - 1
5-112170664-G-C c.1760G>C p.S587T Missense 15/16 - 1
5-112170670-T-A c.1766T>A p.L589* Nonsense 15/16 - 2
5-112170671-G-GT c.1767_1768insT p.S590* Nonsense 15/16 - 1
5-112170675-TG-T c.1771del p.A591Pfs*19 Frameshift 15/16 - 1
5-112170678-T-G c.1774T>G p.L592V Missense 15/16 - 1
5-112170679-T-A c.1775T>A p.L592* Nonsense 15/16 - 1
5-112170679-T-G c.1775T>G p.L592* Nonsense 15/16 - 3
5-112170682-G-A c.1778G>A p.W593* Nonsense 15/16 - 1
5-112170682-G-T c.1778G>T p.W593L Missense 15/16 - 1
5-112170683-G-A c.1779G>A p.W593* Nonsense 15/16 - 3
5-112170686-T-G c.1782T>G p.N594K Missense 15/16 - 1
5-112170686-T-A c.1782T>A p.N594K Missense 15/16 - 1
5-112170691-C-T c.1787C>T p.S596L Missense 15/16 - 2
5-112170691-C-G c.1787C>G p.S596* Nonsense 15/16 - 2
5-112170691-C-A c.1787C>A p.S596* Nonsense 15/16 - 1
5-112170693-G-A c.1789G>A p.A597T Missense 15/16 - 2
5-112170700-G-GTAC c.1796_1797insTAC p.T600dup InFrameInsertion 15/16 - 1
5-112170701-C-A c.1797C>A p.C599* Nonsense 15/16 - 1
5-112170705-G-T c.1801G>T p.E601* Nonsense 15/16 - 1
5-112170711-A-T c.1807A>T p.K603* Nonsense 15/16 - 1
5-112170717-G-A c.1813G>A p.D605N Missense 15/16 - 1
5-112170720-A-G c.1816A>G p.I606V Missense 15/16 - 1
5-112170723-TG-AC c.1819_1820delinsAC p.C607T Missense 15/16 - 1
5-112170724-G-T c.1820G>T p.C607F Missense 15/16 - 1
5-112170725-GT-G c.1821del p.C607Wfs*3 Frameshift 15/16 - 1
5-112170726-GC-TG c.1822_1823delinsTG p.A608C Missense 15/16 - 1
5-112170727-C-G c.1823C>G p.A608G Missense 15/16 - 1
5-112170729-G-GA c.1825_1826insA p.V609Dfs*25 Frameshift 15/16 - 1
5-112170731-TAGATG-T c.1827_1831del p.D610Cfs*22 Frameshift 15/16 - 1
5-112170731-A-AG c.1828dup p.D610Gfs*24 Frameshift 15/16 - 2
5-112170733-GA-G c.1829del p.D610Vfs*20 Frameshift 15/16 - 1
5-112170744-G-A c.1840G>A p.A614T Missense 15/16 - 1
5-112170743-T-TG c.1840dup p.A614Gfs*20 Frameshift 15/16 - 1
5-112170745-C-T c.1841C>T p.A614V Missense 15/16 - 2
5-112170745-C-G c.1841C>G p.A614G Missense 15/16 - 1
5-112170750-TT-GG c.1846_1847delinsGG p.L616G Missense 15/16 - 1
5-112170746-AT-A c.1847del p.L616Wfs*14 Frameshift 15/16 - 2
5-112170753-G-T c.1849G>T p.V617F Missense 15/16 - 23
5-112170751-TG-T c.1849del p.V617Lfs*13 Frameshift 15/16 - 1
5-112170756-G-C c.1852G>C p.G618R Missense 15/16 - 1
5-112170755-TG-T c.1853del p.G618Afs*12 Frameshift 15/16 - 1
5-112170764-T-TA c.1861dup p.T621Nfs*13 Frameshift 15/16 - 2
5-112170761-TCTTA-T c.1863_1866del p.Y622Gfs*7 Frameshift 15/16 - 2
5-112170769-A-G c.1865A>G p.Y622C Missense 15/16 - 2
5-112170770-C-G c.1866C>G p.Y622* Nonsense 15/16 - 2
5-112170773-G-T c.1869G>T p.R623= Synonymous 15/16 - 2
5-112170777-C-T c.1873C>T p.Q625* Nonsense 15/16 - 3
5-112170778-A-G c.1874A>G p.Q625R Missense 15/16 - 1
5-112170776-CCAGA-C c.1875_1878del p.N627Lfs*2 Frameshift 15/16 - 3
5-112170780-ACA-TGT c.1876_1878inv p.T626C Missense 15/16 - 1
5-112170777-C-CAGACATA c.1878_1879insTAAGACA p.N627* Nonsense 15/16 - 1
5-112170779-GACAA-G c.1879_1882del p.N627Lfs*2 Frameshift 15/16 - 1
5-112170787-CTT-C c.1885_1886del p.L629Sfs*4 Frameshift 15/16 - 1
5-112170789-TT-AG c.1885_1886delinsAG p.L629R Missense 15/16 - 1
5-112170787-CT-C c.1886del p.L629* Frameshift 15/16 - 2
5-112170787-C-CT c.1886dup p.L629Ffs*5 Frameshift 15/16 - 1
5-112170792-G-A c.1888G>A p.A630T Missense 15/16 - 1
5-112170792-GC-TG c.1888_1889delinsTG p.A630C Missense 15/16 - 1
5-112170793-C-T c.1889C>T p.A630V Missense 15/16 - 1
5-112170792-GC-G c.1890del p.I631Lfs*15 Frameshift 15/16 - 1
5-112170801-TG-T c.1897del p.E633Kfs*13 Frameshift 15/16 - 1
5-112170801-G-A c.1897G>A p.E633K Missense 15/16 - 1
5-112170804-AG-GC c.1900_1901delinsGC p.S634A Missense 15/16 - 1
5-112170804-A-G c.1900A>G p.S634G Missense 15/16 - 1
5-112170804-AGT-TGA c.1900_1902delinsTGA p.S634* Nonsense 15/16 - 1
5-112170806-T-G c.1902T>G p.S634R Missense 15/16 - 1
5-112170806-T-A c.1902T>A p.S634R Missense 15/16 - 1
5-112170804-A-C c.1900A>C p.S634R Missense 15/16 - 1
5-112170807-G-T c.1903G>T p.G635* Nonsense 15/16 - 1
5-112170809-A-AG c.1907dup p.G637Wfs*14 Frameshift 15/16 - 1
5-112170816-AT-TA c.1912_1913delinsTA p.I638* Nonsense 15/16 - 1
5-112170819-TT-GC c.1915_1916delinsGC p.L639A Missense 15/16 - 1
5-112170818-AT-A c.1916del p.L639Yfs*7 Frameshift 15/16 - 1
5-112170820-T-TA c.1917dup p.R640Tfs*11 Frameshift 15/16 - 3
5-112170822-C-T c.1918C>T p.R640W Missense 15/16 - 4
5-112170822-C-G c.1918C>G p.R640G Missense 15/16 - 3
5-112170823-G-A c.1919G>A p.R640Q Missense 15/16 - 2
5-112170823-GG-AT c.1919_1920delinsAT p.R640H Missense 15/16 - 1
5-112170822-CG-C c.1920del p.N641Mfs*5 Frameshift 15/16 - 1
5-112170826-A-T c.1922A>T p.N641I Missense 15/16 - 1
5-112170828-GTG-ATC c.1924_1926delinsATC p.V642I Missense 15/16 - 1
5-112170832-C-A c.1928C>A p.S643Y Missense 15/16 - 1
5-112170843-G-T c.1939G>T p.A647S Missense 15/16 - 1
5-112170843-G-A c.1939G>A p.A647T Missense 15/16 - 1
5-112170844-C-A c.1940C>A p.A647D Missense 15/16 - 1
5-112170850-A-AG c.1946_1947insG p.N649Kfs*2 Frameshift 15/16 - 1
5-112170852-G-T c.1948G>T p.E650* Nonsense 15/16 - 1
5-112170856-A-G c.1952A>G p.D651G Missense 15/16 - 1
5-112170858-CAC-TAA c.1954_1956delinsTAA p.H652* Nonsense 15/16 - 1
5-112170860-C-T c.1956C>T p.H652= Synonymous 15/16 - 3
5-112170861-A-G c.1957A>G p.R653G Missense 15/16 - 4
5-112170861-A-C c.1957A>C p.R653= Synonymous 15/16 - 4
5-112170861-AG-TA c.1957_1958delinsTA p.R653* Nonsense 15/16 - 1
5-112170861-A-T c.1957A>T p.R653W Missense 15/16 - 1
5-112170862-G-T c.1958G>T p.R653M Missense 15/16 - 4
5-112170862-G-A c.1958G>A p.R653K Missense 15/16 - 2
5-112170862-G-C c.1958G>C p.R653T Missense 15/16 - 1
5-112170863-G-T c.1958+1G>T - IntronicSNV - 15/15 1
5-112170863-G-A c.1958+1G>A - IntronicSNV - 15/15 1
5-112170865-A-G c.1958+3A>G - IntronicSNV - 15/15 5
5-112170865-A-T c.1958+3A>T - IntronicSNV - 15/15 1
5-112170870-T-C c.1958+8T>C - IntronicSNV - 15/15 5
5-112170872-G-T c.1958+10G>T - IntronicSNV - 15/15 1
5-112172219-G-A c.1959-1031G>A - IntronicSNV - 15/15 1
5-112172219-G-C c.1959-1031G>C - IntronicSNV - 15/15 1
5-112173250-G-A c.1959G>A p.R653= Synonymous 16/16 - 6
5-112173250-G-C c.1959G>C p.R653S Missense 16/16 - 1
5-112173250-G-T c.1959G>T p.R653S Missense 16/16 - 1
5-112173248-AG-A c.1959del p.R653Sfs*4 Frameshift 16/16 - 1
5-112173249-G-GGT c.1959_1960insTG p.Q654Cfs*4 SpliceAcceptorInsertion 16/16 - 1
5-112173251-C-T c.1960C>T p.Q654* Nonsense 16/16 - 1
5-112173257-C-G c.1966C>G p.L656V Missense 16/16 - 2
5-112173263-G-T c.1972G>T p.E658* Nonsense 16/16 - 2
5-112173259-AAGAG-A c.1972_1975del p.E658Tfs*11 Frameshift 16/16 - 1
5-112173259-AAG-A c.1974_1975del p.N659Qfs*14 Frameshift 16/16 - 1
5-112173268-C-A c.1977C>A p.N659K Missense 16/16 - 1
5-112173270-A-G c.1979A>G p.N660S Missense 16/16 - 1
5-112173275-C-A c.1984C>A p.L662I Missense 16/16 - 6
5-112173280-A-G c.1989A>G p.Q663= Synonymous 16/16 - 1
5-112173282-CTT-C c.1993_1994del p.L665Ifs*8 Frameshift 16/16 - 2
5-112173285-T-A c.1994T>A p.L665* Nonsense 16/16 - 2
5-112173285-T-C c.1994T>C p.L665S Missense 16/16 - 1
5-112173282-C-CT c.1994dup p.L665Ffs*9 Frameshift 16/16 - 1
5-112173285-T-G c.1994T>G p.L665* Nonsense 16/16 - 1
5-112173286-TA-T c.1995del p.L665Ffs*5 Frameshift 16/16 - 1
5-112173288-T-A c.1997T>A p.L666* Nonsense 16/16 - 1
5-112173288-T-G c.1997T>G p.L666* Nonsense 16/16 - 1
5-112173290-C-T c.1999C>T p.Q667* Nonsense 16/16 - 3
5-112173290-C-CA c.2001dup p.H668Tfs*6 Frameshift 16/16 - 1
5-112173294-CA-C c.2003del p.H668Pfs*2 Frameshift 16/16 - 1
5-112173295-AC-A c.2004del p.L669* Frameshift 16/16 - 1
5-112173296-TT-GC c.2005_2006delinsGC p.L669A Missense 16/16 - 1
5-112173296-T-G c.2005T>G p.L669V Missense 16/16 - 1
5-112173299-A-T c.2008A>T p.K670* Nonsense 16/16 - 4
5-112173299-A-C c.2008A>C p.K670Q Missense 16/16 - 1
5-112173300-A-C c.2009A>C p.K670T Missense 16/16 - 1
5-112173301-A-C c.2010A>C p.K670N Missense 16/16 - 2
5-112173301-A-T c.2010A>T p.K670N Missense 16/16 - 2
5-112173305-CATAGTTTGACAATAGTCAGTAATGCATGTGGA-C c.2016_2047del p.S673Ffs*10 Frameshift 16/16 - 3
5-112173315-AC-A c.2024del p.T675Kfs*2 Frameshift 16/16 - 1
5-112173315-C-T c.2024C>T p.T675I Missense 16/16 - 1
5-112173317-A-G c.2026A>G p.I676V Missense 16/16 - 1
5-112173315-CA-C c.2026del p.I676* Frameshift 16/16 - 1
5-112173319-A-C c.2028A>C p.I676= Synonymous 16/16 - 1
5-112173318-TAGTC-T c.2031_2034del p.S678Mfs*39 Frameshift 16/16 - 4
5-112173324-G-A c.2033G>A p.S678N Missense 16/16 - 1
5-112173328-T-G c.2037T>G p.N679K Missense 16/16 - 14
5-112173328-T-A c.2037T>A p.N679K Missense 16/16 - 14
5-112173329-G-T c.2038G>T p.A680S Missense 16/16 - 1
5-112173331-A-G c.2040A>G p.A680= Synonymous 16/16 - 1
5-112173336-G-C c.2045G>C p.G682A Missense 16/16 - 1
5-112173336-G-A c.2045G>A p.G682E Missense 16/16 - 1
5-112173338-A-C c.2047A>C p.T683P Missense 16/16 - 1
5-112173331-ATGTGGAACTT-A c.2048_2057del p.T683Ifs*32 Frameshift 16/16 - 1
5-112173339-C-T c.2048C>T p.T683I Missense 16/16 - 1
5-112173345-G-A c.2054G>A p.W685* Nonsense 16/16 - 3
5-112173346-G-A c.2055G>A p.W685* Nonsense 16/16 - 4
5-112173350-C-A c.2059C>A p.L687I Missense 16/16 - 1
5-112173359-AGA-TGG c.2068_2070delinsTGG p.R690W Missense 16/16 - 1
5-112173360-GA-G c.2072del p.N691Ifs*27 Frameshift 16/16 - 1
5-112173369-A-G c.2078A>G p.K693R Missense 16/16 - 1
5-112173367-TA-T c.2079del p.D694Tfs*24 Frameshift 16/16 - 1
5-112173372-A-G c.2081A>G p.D694G Missense 16/16 - 1
5-112173374-CA-GC c.2083_2084delinsGC p.Q695A Missense 16/16 - 2
5-112173377-G-A c.2086G>A p.E696K Missense 16/16 - 1
5-112173377-G-T c.2086G>T p.E696* Nonsense 16/16 - 1
5-112173378-A-C c.2087A>C p.E696A Missense 16/16 - 1
5-112173380-G-T c.2089G>T p.A697S Missense 16/16 - 1
5-112173384-T-G c.2093T>G p.L698* Nonsense 16/16 - 1
5-112173387-G-A c.2096G>A p.W699* Nonsense 16/16 - 3
5-112173388-G-A c.2097G>A p.W699* Nonsense 16/16 - 3
5-112173386-T-TG c.2098dup p.D700Gfs*6 Frameshift 16/16 - 1
5-112173386-TGGGACATGG-T c.2099_2107del p.D700_G702del InFrameDeletion 16/16 - 1
5-112173392-A-G c.2101A>G p.M701V Missense 16/16 - 1
5-112173395-G-C c.2104G>C p.G702R Missense 16/16 - 1
5-112173393-T-TG c.2107dup p.A703Gfs*3 Frameshift 16/16 - 3
5-112173393-TG-T c.2107del p.A703Qfs*15 Frameshift 16/16 - 1
5-112173399-GC-G c.2108del p.A703Efs*15 Frameshift 16/16 - 1
5-112173399-C-CG c.2108_2109insG p.V704Sfs*2 Frameshift 16/16 - 1
5-112173399-C-A c.2108C>A p.A703E Missense 16/16 - 1
5-112173404-AG-GC c.2113_2114delinsGC p.S705A Missense 16/16 - 1
5-112173407-CA-C c.2116del p.M706Cfs*12 Frameshift 16/16 - 1
5-112173412-C-T c.2121C>T p.L707= Synonymous 16/16 - 1
5-112173412-C-G c.2121C>G p.L707= Synonymous 16/16 - 1
5-112173412-C-A c.2121C>A p.L707= Synonymous 16/16 - 1
5-112173419-C-T c.2128C>T p.L710F Missense 16/16 - 1
5-112173420-T-C c.2129T>C p.L710P Missense 16/16 - 1
5-112173421-TC-T c.2130del p.I711Ffs*7 Frameshift 16/16 - 1
5-112173422-A-C c.2131A>C p.I711L Missense 16/16 - 1
5-112173419-CTCAT-C c.2136_2139del p.H712Qfs*5 Frameshift 16/16 - 1
5-112173429-C-G c.2138C>G p.S713* Nonsense 16/16 - 4
5-112173429-C-A c.2138C>A p.S713* Nonsense 16/16 - 1
5-112173432-A-AG c.2142dup p.H715Afs*19 Frameshift 16/16 - 2
5-112173436-C-A c.2145C>A p.H715Q Missense 16/16 - 1
5-112173436-C-G c.2145C>G p.H715Q Missense 16/16 - 1
5-112173441-T-A c.2150T>A p.M717K Missense 16/16 - 1
5-112173446-G-A c.2155G>A p.A719T Missense 16/16 - 1
5-112173447-C-A c.2156C>A p.A719D Missense 16/16 - 1
5-112173447-C-G c.2156C>G p.A719G Missense 16/16 - 1
5-112173448-CT-C c.2157del p.M720Wfs*7 Frameshift 16/16 - 1
5-112173449-A-G c.2158A>G p.M720V Missense 16/16 - 2
5-112173452-G-T c.2161G>T p.G721* Nonsense 16/16 - 1
5-112173455-A-G c.2164A>G p.S722G Missense 16/16 - 1
5-112173462-C-T c.2171C>T p.A724V Missense 16/16 - 1
5-112173465-C-T c.2174C>T p.A725V Missense 16/16 - 1
5-112173471-G-T c.2180G>T p.R727M Missense 16/16 - 3
5-112173471-G-A c.2180G>A p.R727K Missense 16/16 - 1
5-112173470-A-AG c.2181dup p.N728Efs*6 Frameshift 16/16 - 1
5-112173473-GAA-G c.2182_2183del p.N728Sfs*5 Frameshift 16/16 - 1
5-112173476-C-T c.2185C>T p.L729F Missense 16/16 - 1
5-112173476-C-CT c.2186dup p.M730Hfs*4 Frameshift 16/16 - 1
5-112173479-A-C c.2188A>C p.M730L Missense 16/16 - 1
5-112173479-A-T c.2188A>T p.M730L Missense 16/16 - 1
5-112173484-A-AT c.2193_2194insT p.N732* Nonsense 16/16 - 1
5-112173483-C-CA c.2195dup p.N732Kfs*2 Frameshift 16/16 - 1
5-112173495-C-T c.2204C>T p.A735V Missense 16/16 - 2
5-112173499-G-C c.2208G>C p.K736N Missense 16/16 - 1
5-112173499-G-T c.2208G>T p.K736N Missense 16/16 - 1
5-112173498-AGTACAAGGAT-A c.2209_2218del p.Y737Pfs*21 Frameshift 16/16 - 1
5-112173500-T-TA c.2210dup p.Y737* Nonsense 16/16 - 1
5-112173502-C-G c.2211C>G p.Y737* Nonsense 16/16 - 2
5-112173502-ACAAGG-A c.2211_2215del p.Y737* Frameshift 16/16 - 1
5-112173510-GCCAATATTATGTC-G c.2219_2231del p.A740Vfs*17 Frameshift 16/16 - 1
5-112173510-CCAATATTATGTCT-C c.2221_2233del p.N741Lfs*16 Frameshift 16/16 - 1
5-112173511-C-CA c.2222dup p.N741Kfs*15 Frameshift 16/16 - 1
5-112173519-T-C c.2228T>C p.M743T Missense 16/16 - 1
5-112173520-G-A c.2229G>A p.M743I Missense 16/16 - 1
5-112173531-C-G c.2240C>G p.S747* Nonsense 16/16 - 2
5-112173532-A-AT c.2241_2242insT p.S748* Nonsense 16/16 - 1
5-112173540-C-T c.2249C>T p.P750L Missense 16/16 - 1
5-112173540-C-G c.2249C>G p.P750R Missense 16/16 - 1
5-112173543-C-A c.2252C>A p.S751Y Missense 16/16 - 1
5-112173549-A-G c.2258A>G p.H753R Missense 16/16 - 2
5-112173551-G-GT c.2262dup p.R755* Nonsense 16/16 - 1
5-112173554-AG-GC c.2263_2264delinsGC p.R755A Missense 16/16 - 2
5-112173555-G-A c.2264G>A p.R755K Missense 16/16 - 1
5-112173560-C-T c.2269C>T p.Q757* Nonsense 16/16 - 5
5-112173560-AC-A c.2269del p.Q757Kfs*4 Frameshift 16/16 - 1
5-112173560-CA-C c.2274del p.A759Pfs*2 Frameshift 16/16 - 1
5-112173563-AAAGCCCTAGAAGC-A c.2274_2286del p.A759Nfs*2 Frameshift 16/16 - 2
5-112173560-C-CA c.2274dup p.A759Sfs*16 Frameshift 16/16 - 1
5-112173567-C-T c.2276C>T p.A759V Missense 16/16 - 1
5-112173572-G-T c.2281G>T p.E761* Nonsense 16/16 - 2
5-112173576-C-T c.2285C>T p.A762V Missense 16/16 - 2
5-112173578-G-A c.2287G>A p.E763K Missense 16/16 - 1
5-112173578-G-T c.2287G>T p.E763* Nonsense 16/16 - 1
5-112173582-T-A c.2291T>A p.L764* Nonsense 16/16 - 1
5-112173582-T-G c.2291T>G p.L764* Nonsense 16/16 - 1
5-112173588-C-T c.2297C>T p.A766V Missense 16/16 - 1
5-112173589-T-C c.2298T>C p.A766= Synonymous 16/16 - 1
5-112173590-C-T c.2299C>T p.Q767* Nonsense 16/16 - 3
5-112173596-T-C c.2305T>C p.L769= Synonymous 16/16 - 1
5-112173598-A-G c.2307A>G p.L769= Synonymous 16/16 - 1
5-112173600-C-A c.2309C>A p.S770* Nonsense 16/16 - 2
5-112173600-TC-T c.2309del p.S770* Frameshift 16/16 - 1
5-112173600-C-G c.2309C>G p.S770* Nonsense 16/16 - 1
5-112173601-A-AT c.2310_2311insT p.E771* Nonsense 16/16 - 1
5-112173601-CA-C c.2310del p.E771Kfs*6 Frameshift 16/16 - 1
5-112173603-A-G c.2312A>G p.E771G Missense 16/16 - 2
5-112173606-CT-C c.2319del p.F773Lfs*4 Frameshift 16/16 - 1
5-112173606-C-CT c.2319dup p.D774* Nonsense 16/16 - 1
5-112173612-A-G c.2321A>G p.D774G Missense 16/16 - 1
5-112173613-C-T c.2322C>T p.D774= Synonymous 16/16 - 1
5-112173613-C-CA c.2324dup p.N775Kfs*13 Frameshift 16/16 - 1
5-112173620-G-A c.2329G>A p.D777N Missense 16/16 - 1
5-112173621-A-G c.2330A>G p.D777G Missense 16/16 - 1
5-112173624-A-G c.2333A>G p.N778S Missense 16/16 - 1
5-112173622-CAATTT-C c.2334_2338del p.N778Kfs*8 Frameshift 16/16 - 1
5-112173624-AT-A c.2336del p.L779* Frameshift 16/16 - 2
5-112173624-A-AT c.2336dup p.L779Ffs*9 Frameshift 16/16 - 2
5-112173628-A-T c.2337A>T p.L779F Missense 16/16 - 1
5-112173628-A-C c.2337A>C p.L779F Missense 16/16 - 1
5-112173629-AG-GC c.2338_2339delinsGC p.S780A Missense 16/16 - 1
5-112173631-TC-T c.2343del p.K782Rfs*38 Frameshift 16/16 - 1
5-112173635-A-T c.2344A>T p.K782* Nonsense 16/16 - 1
5-112173639-GCATCTCATCGTAGT-G c.2348_2361del p.A783Efs*11 Frameshift 16/16 - 1
5-112173641-T-C c.2350T>C p.S784P Missense 16/16 - 1
5-112173641-T-A c.2350T>A p.S784T Missense 16/16 - 1
5-112173641-T-G c.2350T>G p.S784A Missense 16/16 - 1
5-112173647-C-T c.2356C>T p.R786C Missense 16/16 - 2
5-112173652-GT-G c.2361del p.S787Rfs*33 Frameshift 16/16 - 1
5-112173654-A-G c.2363A>G p.K788R Missense 16/16 - 1
5-112173655-G-A c.2364G>A p.K788= Synonymous 16/16 - 1
5-112173656-C-T c.2365C>T p.Q789* Nonsense 16/16 - 4
5-112173657-A-G c.2366A>G p.Q789R Missense 16/16 - 1
5-112173659-A-T c.2368A>T p.R790* Nonsense 16/16 - 2
5-112173660-GAC-G c.2373_2374del p.H791Qfs*7 Frameshift 16/16 - 1
5-112173666-A-G c.2375A>G p.K792R Missense 16/16 - 1
5-112173668-C-T c.2377C>T p.Q793* Nonsense 16/16 - 1
5-112173669-A-G c.2378A>G p.Q793R Missense 16/16 - 1
5-112173670-A-G c.2379A>G p.Q793= Synonymous 16/16 - 1
5-112173671-AG-GC c.2380_2381delinsGC p.S794A Missense 16/16 - 1
5-112173676-CTA-C c.2387_2388del p.Y796Wfs*2 Frameshift 16/16 - 1
5-112173678-A-G c.2387A>G p.Y796C Missense 16/16 - 1
5-112173681-G-A c.2390G>A p.G797D Missense 16/16 - 2
5-112173681-G-C c.2390G>C p.G797A Missense 16/16 - 1
5-112173679-TG-T c.2390del p.G797Vfs*23 Frameshift 16/16 - 1
5-112173680-GGT-G c.2391_2392del p.D798Lfs*4 Frameshift 16/16 - 1
5-112173683-G-A c.2392G>A p.D798N Missense 16/16 - 1
5-112173683-G-C c.2392G>C p.D798H Missense 16/16 - 1
5-112173684-A-AT c.2395dup p.Y799Lfs*4 Frameshift 16/16 - 1
5-112173685-TTA-T c.2396_2397del p.Y799Cfs*3 Frameshift 16/16 - 1
5-112173688-T-A c.2397T>A p.Y799* Nonsense 16/16 - 1
5-112173690-T-C c.2399T>C p.V800A Missense 16/16 - 1
5-112173692-TT-GC c.2401_2402delinsGC p.F801A Missense 16/16 - 1
5-112173689-G-GT c.2403dup p.D802* Nonsense 16/16 - 1
5-112173698-AC-TG c.2407_2408delinsTG p.T803C Missense 16/16 - 1
5-112173699-C-G c.2408C>G p.T803S Missense 16/16 - 1
5-112173704-C-T c.2413C>T p.R805* Nonsense 16/16 - 25
5-112173705-G-A c.2414G>A p.R805Q Missense 16/16 - 2
5-112173713-G-T c.2422G>T p.D808Y Missense 16/16 - 1
5-112173713-G-C c.2422G>C p.D808H Missense 16/16 - 1
5-112173714-A-G c.2423A>G p.D808G Missense 16/16 - 1
5-112173713-GAT-G c.2424_2425del p.D808Efs*2 Frameshift 16/16 - 1
5-112173716-AA-CT c.2425_2426delinsCT p.N809L Missense 16/16 - 1
5-112173723-C-G c.2432C>G p.S811* Nonsense 16/16 - 7
5-112173723-C-A c.2432C>A p.S811* Nonsense 16/16 - 5
5-112173728-AA-GC c.2437_2438delinsGC p.N813A Missense 16/16 - 1
5-112173729-A-G c.2438A>G p.N813S Missense 16/16 - 4
5-112173734-AATACTGGCAAC-A c.2446_2456del p.T816Dfs*24 Frameshift 16/16 - 1
5-112173738-C-T c.2447C>T p.T816I Missense 16/16 - 1
5-112173739-T-C c.2448T>C p.T816= Synonymous 16/16 - 1
5-112173743-A-C c.2452A>C p.N818H Missense 16/16 - 1
5-112173755-CTT-ATG c.2464_2466delinsATG p.L822M Missense 16/16 - 1
5-112173756-T-G c.2465T>G p.L822R Missense 16/16 - 1
5-112173764-T-C c.2473T>C p.Y825H Missense 16/16 - 1
5-112173765-A-T c.2474A>T p.Y825F Missense 16/16 - 1
5-112173772-T-C c.2481T>C p.N827= Synonymous 16/16 - 1
5-112173774-AC-A c.2483del p.T828Ifs*14 Frameshift 16/16 - 1
5-112173777-C-T c.2486C>T p.T829I Missense 16/16 - 1
5-112173779-G-A c.2488G>A p.V830M Missense 16/16 - 1
5-112173783-T-TA c.2493dup p.P832Tfs*12 Frameshift 16/16 - 1
5-112173784-AC-A c.2496del p.S833Afs*9 Frameshift 16/16 - 1
5-112173792-CCTCTTCATC-TCCTCTTGATG c.2501_2510delinsTCCTCTTGATG p.S834Ffs*10 Frameshift 16/16 - 1
5-112173792-C-T c.2501C>T p.S834F Missense 16/16 - 1
5-112173791-TC-T c.2502del p.S835Lfs*7 Frameshift 16/16 - 1
5-112173794-T-G c.2503T>G p.S835A Missense 16/16 - 1
5-112173798-C-A c.2507C>A p.S836* Nonsense 16/16 - 2
5-112173797-T-TC c.2507dup p.S837Ifs*7 Frameshift 16/16 - 1
5-112173798-C-G c.2507C>G p.S836* Nonsense 16/16 - 1
5-112173801-C-G c.2510C>G p.S837* Nonsense 16/16 - 8
5-112173801-C-A c.2510C>A p.S837* Nonsense 16/16 - 2
5-112173801-C-CT c.2510_2511insT p.R838Kfs*6 Frameshift 16/16 - 1
5-112173801-TC-T c.2510del p.S837* Frameshift 16/16 - 1
5-112173803-AG-CA c.2512_2513delinsCA p.R838Q Missense 16/16 - 1
5-112173807-G-A c.2516G>A p.G839E Missense 16/16 - 1
5-112173809-AG-GC c.2518_2519delinsGC p.S840A Missense 16/16 - 1
5-112173812-T-G c.2521T>G p.L841V Missense 16/16 - 1
5-112173813-T-A c.2522T>A p.L841* Nonsense 16/16 - 1
5-112173813-T-G c.2522T>G p.L841* Nonsense 16/16 - 1
5-112173813-T-TA c.2523dup p.D842Rfs*2 Frameshift 16/16 - 1
5-112173816-A-T c.2525A>T p.D842V Missense 16/16 - 8
5-112173816-A-G c.2525A>G p.D842G Missense 16/16 - 1
5-112173816-A-AT c.2526dup p.S843* Nonsense 16/16 - 1
5-112173816-ATAGT-A c.2527_2530del p.S843Lfs*17 Frameshift 16/16 - 2
5-112173825-G-A c.2534G>A p.R845H Missense 16/16 - 4
5-112173827-TC-GA c.2536_2537inv p.S846D Missense 16/16 - 1
5-112173828-C-CT c.2538dup p.E847* Nonsense 16/16 - 1
5-112173830-G-T c.2539G>T p.E847* Nonsense 16/16 - 1
5-112173833-AA-GC c.2542_2543delinsGC p.K848A Missense 16/16 - 3
5-112173833-A-T c.2542A>T p.K848* Nonsense 16/16 - 1
5-112173835-A-AT c.2544_2545insT p.D849* Nonsense 16/16 - 1
5-112173830-GA-G c.2544del p.D849Ifs*12 Frameshift 16/16 - 2
5-112173830-G-GA c.2544dup p.D849Rfs*2 Frameshift 16/16 - 1
5-112173836-GA-AT c.2545_2546delinsAT p.D849I Missense 16/16 - 1
5-112173836-AG-A c.2545del p.D849Ifs*12 Frameshift 16/16 - 1
5-112173836-GAT-G c.2547_2548del p.D849Efs*62 Frameshift 16/16 - 3
5-112173834-AAGAT-A c.2547_2550del p.D849Efs*11 Frameshift 16/16 - 8
5-112173839-A-T c.2548A>T p.R850* Nonsense 16/16 - 4
5-112173839-A-G c.2548A>G p.R850G Missense 16/16 - 1
5-112173837-ATAGAAGTT-A c.2548_2555del p.R850Gfs*59 Frameshift 16/16 - 1
5-112173846-T-C c.2555T>C p.L852S Missense 16/16 - 1
5-112173847-G-A c.2556G>A p.L852= Synonymous 16/16 - 1
5-112173848-G-T c.2557G>T p.E853* Nonsense 16/16 - 13
5-112173848-G-A c.2557G>A p.E853K Missense 16/16 - 1
5-112173849-A-G c.2558A>G p.E853G Missense 16/16 - 1
5-112173849-A-T c.2558A>T p.E853V Missense 16/16 - 1
5-112173851-A-G c.2560A>G p.R854G Missense 16/16 - 2
5-112173851-AG-CA c.2560_2561delinsCA p.R854Q Missense 16/16 - 1
5-112173852-G-A c.2561G>A p.R854K Missense 16/16 - 1
5-112173854-G-T c.2563G>T p.E855* Nonsense 16/16 - 1
5-112173847-GGA-G c.2563_2564del p.E855Tfs*56 Frameshift 16/16 - 1
5-112173857-C-T c.2566C>T p.R856C Missense 16/16 - 3
5-112173857-C-G c.2566C>G p.R856G Missense 16/16 - 1
5-112173858-G-A c.2567G>A p.R856H Missense 16/16 - 2
5-112173859-C-T c.2568C>T p.R856= Synonymous 16/16 - 1
5-112173860-G-A c.2569G>A p.G857R Missense 16/16 - 2
5-112173860-G-T c.2569G>T p.G857* Nonsense 16/16 - 2
5-112173859-CG-C c.2570del p.G857Efs*4 Frameshift 16/16 - 1
5-112173860-GGAATT-G c.2571_2575del p.I858Sfs*52 Frameshift 16/16 - 1
5-112173867-G-A c.2576G>A p.G859D Missense 16/16 - 2
5-112173870-CT-C c.2579del p.L860Qfs*56 Frameshift 16/16 - 1
5-112173871-TA-T c.2580del p.G861Afs*55 Frameshift 16/16 - 2
5-112173877-C-CCA c.2586_2587insCA p.Y863Hfs*54 Frameshift 16/16 - 1
5-112173877-C-G c.2586C>G p.N862K Missense 16/16 - 1
5-112173880-C-G c.2589C>G p.Y863* Nonsense 16/16 - 2
5-112173884-C-T c.2593C>T p.P865S Missense 16/16 - 1
5-112173885-C-T c.2594C>T p.P865L Missense 16/16 - 2
5-112173890-A-G c.2599A>G p.T867A Missense 16/16 - 1
5-112173893-G-C c.2602G>C p.E868Q Missense 16/16 - 2
5-112173893-G-A c.2602G>A p.E868K Missense 16/16 - 1
5-112173891-CAGAAAATCCAGGAACTTCTTCAAAGCG-C c.2603_2629del p.E868_R876del InFrameDeletion 16/16 - 1
5-112173893-G-GA c.2606dup p.N869Kfs*43 Frameshift 16/16 - 1
5-112173897-A-C c.2606A>C p.N869T Missense 16/16 - 1
5-112173893-GA-G c.2606del p.N869Ifs*47 Frameshift 16/16 - 2
5-112173897-A-T c.2606A>T p.N869I Missense 16/16 - 1
5-112173899-C-T c.2608C>T p.P870S Missense 16/16 - 6
5-112173901-AG-A c.2612del p.G871Efs*45 Frameshift 16/16 - 2
5-112173905-AACTT-A c.2614_2617del p.T872Lfs*43 Frameshift 16/16 - 1
5-112173905-A-G c.2614A>G p.T872A Missense 16/16 - 1
5-112173910-T-C c.2619T>C p.S873= Synonymous 16/16 - 1
5-112173912-C-G c.2621C>G p.S874* Nonsense 16/16 - 2
5-112173912-C-A c.2621C>A p.S874* Nonsense 16/16 - 1
5-112173912-TCAAAGC-T c.2621_2626del p.S874_R876delins* MultiAAMissense 16/16 - 1
5-112173914-AA-GC c.2623_2624delinsGC p.K875A Missense 16/16 - 1
5-112173916-G-C c.2625G>C p.K875N Missense 16/16 - 1
5-112173916-G-T c.2625G>T p.K875N Missense 16/16 - 1
5-112173917-C-T c.2626C>T p.R876* Nonsense 16/16 - 87
5-112173917-C-A c.2626C>A p.R876= Synonymous 16/16 - 2
5-112173917-CG-AC c.2626_2627delinsAC p.R876T Missense 16/16 - 1
5-112173917-CGA-TGT c.2626_2628delinsTGT p.R876C Missense 16/16 - 1
5-112173918-G-A c.2627G>A p.R876Q Missense 16/16 - 1
5-112173921-G-A c.2630G>A p.G877D Missense 16/16 - 1
5-112173922-T-A c.2631T>A p.G877= Synonymous 16/16 - 1
5-112173921-GT-G c.2633del p.L878Cfs*38 Frameshift 16/16 - 1
5-112173926-C-T c.2635C>T p.Q879* Nonsense 16/16 - 4
5-112173926-C-G c.2635C>G p.Q879E Missense 16/16 - 1
5-112173927-CA-C c.2636del p.Q879Rfs*37 Frameshift 16/16 - 1
5-112173929-GA-G c.2638del p.I880Sfs*36 Frameshift 16/16 - 1
5-112173929-A-C c.2638A>C p.I880L Missense 16/16 - 1
5-112173930-T-C c.2639T>C p.I880T Missense 16/16 - 2
5-112173935-A-G c.2644A>G p.T882A Missense 16/16 - 1
5-112173937-C-T c.2646C>T p.T882= Synonymous 16/16 - 1
5-112173942-C-T c.2651C>T p.A884V Missense 16/16 - 1
5-112173944-G-A c.2653G>A p.A885T Missense 16/16 - 2
5-112173947-C-T c.2656C>T p.Q886* Nonsense 16/16 - 6
5-112173949-G-T c.2658G>T p.Q886H Missense 16/16 - 1
5-112173949-G-C c.2658G>C p.Q886H Missense 16/16 - 1
5-112173950-A-T c.2659A>T p.I887F Missense 16/16 - 1
5-112173953-G-A c.2662G>A p.A888T Missense 16/16 - 2
5-112173953-G-T c.2662G>T p.A888S Missense 16/16 - 1
5-112173954-C-T c.2663C>T p.A888V Missense 16/16 - 1
5-112173955-C-CT c.2664_2665insT p.K889* Nonsense 16/16 - 1
5-112173956-AAA-CAT c.2665_2667delinsCAT p.K889H Missense 16/16 - 2
5-112173955-CAA-C c.2666_2667del p.K889Sfs*22 Frameshift 16/16 - 1
5-112173955-C-CA c.2667dup p.V890Sfs*22 Frameshift 16/16 - 1
5-112173958-A-G c.2667A>G p.K889= Synonymous 16/16 - 1
5-112173958-A-T c.2667A>T p.K889N Missense 16/16 - 1
5-112173958-A-C c.2667A>C p.K889N Missense 16/16 - 1
5-112173960-T-C c.2669T>C p.V890A Missense 16/16 - 1
5-112173964-G-C c.2673G>C p.M891I Missense 16/16 - 1
5-112173964-G-A c.2673G>A p.M891I Missense 16/16 - 2
5-112173965-G-A c.2674G>A p.E892K Missense 16/16 - 1
5-112173966-A-G c.2675A>G p.E892G Missense 16/16 - 1
5-112173968-G-T c.2677G>T p.E893* Nonsense 16/16 - 7
5-112173968-G-A c.2677G>A p.E893K Missense 16/16 - 1
5-112173969-A-T c.2678A>T p.E893V Missense 16/16 - 1
5-112173969-A-C c.2678A>C p.E893A Missense 16/16 - 1
5-112173971-G-A c.2680G>A p.V894M Missense 16/16 - 1
5-112173971-GT-TA c.2680_2681delinsTA p.V894* Missense 16/16 - 1
5-112173975-C-G c.2684C>G p.S895* Nonsense 16/16 - 2
5-112173975-C-A c.2684C>A p.S895* Nonsense 16/16 - 1
5-112173975-C-T c.2684C>T p.S895L Missense 16/16 - 1
5-112173976-A-G c.2685A>G p.S895= Synonymous 16/16 - 1
5-112173978-C-G c.2687C>G p.A896G Missense 16/16 - 1
5-112173978-C-T c.2687C>T p.A896V Missense 16/16 - 1
5-112173978-CCATTCATA-C c.2689_2696del p.I897Lfs*12 Frameshift 16/16 - 1
5-112173986-A-G c.2695A>G p.T899A Missense 16/16 - 1
5-112173988-C-T c.2697C>T p.T899= Synonymous 16/16 - 1
5-112173989-T-TTG c.2698_2699insTG p.S900Lfs*17 Frameshift 16/16 - 1
5-112173987-CCT-C c.2700_2701del p.Q901Gfs*10 Frameshift 16/16 - 1
5-112173992-C-T c.2701C>T p.Q901* Nonsense 16/16 - 3
5-112173993-A-G c.2702A>G p.Q901R Missense 16/16 - 1
5-112173995-GAAGACAGAAGTTCTGGGTCT-G c.2706_2725del p.E902Dfs*3 Frameshift 16/16 - 1
5-112173996-AAGAC-A c.2709_2712del p.D903Efs*12 Frameshift 16/16 - 1
5-112174001-AG-CA c.2710_2711delinsCA p.R904Q Missense 16/16 - 1
5-112174001-A-T c.2710A>T p.R904* Nonsense 16/16 - 1
5-112174005-G-A c.2714G>A p.S905N Missense 16/16 - 1
5-112174008-C-T c.2717C>T p.S906F Missense 16/16 - 1
5-112174011-G-T c.2720G>T p.G907V Missense 16/16 - 1
5-112174016-A-G c.2725A>G p.T909A Missense 16/16 - 1
5-112174017-CC-TG c.2726_2727delinsTG p.T909M Missense 16/16 - 1
5-112174016-AC-A c.2727del p.T910Lfs*6 Frameshift 16/16 - 1
5-112174019-A-C c.2728A>C p.T910P Missense 16/16 - 1
5-112174019-CACTGAATTACA-C c.2728_2738del p.T910Lfs*5 Frameshift 16/16 - 1
5-112174026-T-A c.2735T>A p.L912* Nonsense 16/16 - 2
5-112174026-T-G c.2735T>G p.L912* Nonsense 16/16 - 1
5-112174033-T-A c.2742T>A p.C914* Nonsense 16/16 - 1
5-112174034-G-A c.2743G>A p.V915M Missense 16/16 - 2
5-112174035-T-C c.2744T>C p.V915A Missense 16/16 - 1
5-112174037-A-G c.2746A>G p.T916A Missense 16/16 - 1
5-112174039-CA-C c.2748del p.D917Mfs*38 Frameshift 16/16 - 1
5-112174040-G-T c.2749G>T p.D917Y Missense 16/16 - 1
5-112174042-AT-A c.2751del p.D917Efs*38 Frameshift 16/16 - 1
5-112174043-G-T c.2752G>T p.E918* Nonsense 16/16 - 3
5-112174045-G-C c.2754G>C p.E918D Missense 16/16 - 1
5-112174045-G-T c.2754G>T p.E918D Missense 16/16 - 1
5-112174046-A-T c.2755A>T p.R919* Nonsense 16/16 - 3
5-112174046-AGA-TGT c.2755_2757delinsTGT p.R919C Missense 16/16 - 1
5-112174048-A-C c.2757A>C p.R919S Missense 16/16 - 1
5-112174048-A-T c.2757A>T p.R919S Missense 16/16 - 1
5-112174049-AA-TG c.2758_2759delinsTG p.N920C Missense 16/16 - 1
5-112174047-GAA-G c.2758_2759del p.N920Cfs*3 Frameshift 16/16 - 1
5-112174058-A-T c.2767A>T p.R923* Nonsense 16/16 - 2
5-112174061-A-T c.2770A>T p.R924* Nonsense 16/16 - 1
5-112174062-G-GT c.2771_2772insT p.R924Sfs*16 Frameshift 16/16 - 1
5-112174071-C-G c.2780C>G p.A927G Missense 16/16 - 1
5-112174074-C-A c.2783C>A p.A928D Missense 16/16 - 1
5-112174076-CA-AG c.2785_2786delinsAG p.H929S Missense 16/16 - 1
5-112174076-C-T c.2785C>T p.H929Y Missense 16/16 - 1
5-112174077-A-G c.2786A>G p.H929R Missense 16/16 - 1
5-112174075-CCATA-C c.2787_2790del p.T930Ifs*24 Frameshift 16/16 - 1
5-112174079-ACACATTCAAACACTTACAATTT-A c.2792_2813del p.H931Lfs*17 Frameshift 16/16 - 1
5-112174084-T-C c.2793T>C p.H931= Synonymous 16/16 - 1
5-112174086-C-G c.2795C>G p.S932* Nonsense 16/16 - 1
5-112174086-C-T c.2795C>T p.S932L Missense 16/16 - 1
5-112174085-TCAAA-T c.2797_2800del p.N933Lfs*21 Frameshift 16/16 - 1
5-112174092-AC-A c.2801del p.T934Ifs*21 Frameshift 16/16 - 1
5-112174093-T-A c.2802T>A p.T934= Synonymous 16/16 - 1
5-112174093-T-G c.2802T>G p.T934= Synonymous 16/16 - 1
5-112174093-T-C c.2802T>C p.T934= Synonymous 16/16 - 1
5-112174090-CACTT-C c.2802_2805del p.Y935Ifs*19 Frameshift 16/16 - 5
5-112174094-T-A c.2803T>A p.Y935N Missense 16/16 - 1
5-112174094-T-C c.2803T>C p.Y935H Missense 16/16 - 1
5-112174094-T-TA c.2804dup p.Y935* Nonsense 16/16 - 6
5-112174096-C-A c.2805C>A p.Y935* Nonsense 16/16 - 16
5-112174096-C-G c.2805C>G p.Y935* Nonsense 16/16 - 10
5-112174096-AC-A c.2805del p.Y935* Frameshift 16/16 - 2
5-112174093-TTACAATTTCAC-T c.2805_2815del p.Y935* Frameshift 16/16 - 2
5-112174096-C-T c.2805C>T p.Y935= Synonymous 16/16 - 1
5-112174100-T-A c.2809T>A p.F937I Missense 16/16 - 1
5-112174098-AT-A c.2810del p.F937Sfs*18 Frameshift 16/16 - 1
5-112174106-A-C c.2815A>C p.K939Q Missense 16/16 - 8
5-112174106-AA-GC c.2815_2816delinsGC p.K939A Missense 16/16 - 1
5-112174106-A-T c.2815A>T p.K939* Nonsense 16/16 - 1
5-112174105-TA-T c.2816del p.K939Sfs*16 Frameshift 16/16 - 1
5-112174109-T-A c.2818T>A p.S940T Missense 16/16 - 1
5-112174110-C-A c.2819C>A p.S940* Nonsense 16/16 - 1
5-112174110-C-T c.2819C>T p.S940L Missense 16/16 - 1
5-112174112-G-T c.2821G>T p.E941* Nonsense 16/16 - 10
5-112174113-A-G c.2822A>G p.E941G Missense 16/16 - 1
5-112174114-A-AT c.2823_2824insT p.N942* Nonsense 16/16 - 1
5-112174115-A-G c.2824A>G p.N942D Missense 16/16 - 1
5-112174112-G-GA c.2825dup p.N942Kfs*4 Frameshift 16/16 - 1
5-112174116-A-G c.2825A>G p.N942S Missense 16/16 - 1
5-112174117-T-G c.2826T>G p.N942K Missense 16/16 - 1
5-112174117-T-A c.2826T>A p.N942K Missense 16/16 - 1
5-112174118-T-C c.2827T>C p.S943P Missense 16/16 - 1
5-112174119-C-A c.2828C>A p.S943* Nonsense 16/16 - 3
5-112174119-C-G c.2828C>G p.S943* Nonsense 16/16 - 2
5-112174121-A-G c.2830A>G p.N944D Missense 16/16 - 1
5-112174122-A-C c.2831A>C p.N944T Missense 16/16 - 1
5-112174123-T-C c.2832T>C p.N944= Synonymous 16/16 - 1
5-112174124-AG-A c.2835del p.T946Hfs*9 Frameshift 16/16 - 1
5-112174127-A-G c.2836A>G p.T946A Missense 16/16 - 1
5-112174128-C-T c.2837C>T p.T946I Missense 16/16 - 1
5-112174129-CAT-C c.2838_2839del p.C947Ffs*15 Frameshift 16/16 - 1
5-112174131-TG-T c.2840del p.C947Ffs*8 Frameshift 16/16 - 1
5-112174133-TC-CG c.2842_2843delinsCG p.S948R Missense 16/16 - 1
5-112174134-C-T c.2843C>T p.S948F Missense 16/16 - 1
5-112174138-G-A c.2847G>A p.M949I Missense 16/16 - 1
5-112174144-T-G c.2853T>G p.Y951* Nonsense 16/16 - 4
5-112174144-T-C c.2853T>C p.Y951= Synonymous 16/16 - 1
5-112174144-T-A c.2853T>A p.Y951* Nonsense 16/16 - 1
5-112174145-GC-G c.2856del p.K953Nfs*2 Frameshift 16/16 - 1
5-112174154-G-A c.2863G>A p.E955K Missense 16/16 - 2
5-112174154-G-T c.2863G>T p.E955* Nonsense 16/16 - 2
5-112174158-A-G c.2867A>G p.Y956C Missense 16/16 - 1
5-112174163-A-G c.2872A>G p.R958G Missense 16/16 - 1
5-112174166-T-C c.2875T>C p.S959P Missense 16/16 - 1
5-112174167-C-T c.2876C>T p.S959F Missense 16/16 - 2
5-112174167-C-A c.2876C>A p.S959Y Missense 16/16 - 1
5-112174171-A-AT c.2880_2881insT p.N961* Nonsense 16/16 - 1
5-112174173-A-G c.2882A>G p.N961S Missense 16/16 - 1
5-112174175-TG-T c.2884del p.D962Ifs*3 Frameshift 16/16 - 1
5-112174176-A-AT c.2886dup p.S963* Nonsense 16/16 - 1
5-112174179-G-GT c.2891dup p.L964Ffs*3 Frameshift 16/16 - 1
5-112174181-TTAAA-T c.2893_2896del p.N965Vfs*14 Frameshift 16/16 - 2
5-112174182-TA-T c.2894del p.N965Ifs*15 Frameshift 16/16 - 1
5-112174187-A-G c.2896A>G p.S966G Missense 16/16 - 1
5-112174192-C-A c.2901C>A p.V967= Synonymous 16/16 - 1
5-112174195-GT-G c.2904del p.S968Rfs*12 Frameshift 16/16 - 1
5-112174201-GT-G c.2910del p.S970Rfs*10 Frameshift 16/16 - 1
5-112174202-G-A c.2911G>A p.D971N Missense 16/16 - 2
5-112174205-G-C c.2914G>C p.G972R Missense 16/16 - 3
5-112174210-T-A c.2919T>A p.Y973* Nonsense 16/16 - 1
5-112174211-GG-AA c.2920_2921delinsAA p.G974N Missense 16/16 - 1
5-112174212-G-A c.2921G>A p.G974D Missense 16/16 - 1
5-112174210-TG-T c.2921del p.G974Vfs*6 Frameshift 16/16 - 1
5-112174214-A-T c.2923A>T p.K975* Nonsense 16/16 - 1
5-112174216-A-AT c.2925_2926insT p.R976* Nonsense 16/16 - 1
5-112174213-TAA-T c.2925_2926del p.G977Sfs*7 Frameshift 16/16 - 1
5-112174213-T-TA c.2926dup p.R976Kfs*9 Frameshift 16/16 - 1
5-112174213-TA-T c.2926del p.R976Efs*4 Frameshift 16/16 - 1
5-112174216-AAG-A c.2928_2929del p.G977Sfs*7 Frameshift 16/16 - 1
5-112174220-G-C c.2929G>C p.G977R Missense 16/16 - 1
5-112174223-C-T c.2932C>T p.Q978* Nonsense 16/16 - 7
5-112174225-A-T c.2934A>T p.Q978H Missense 16/16 - 1
5-112174225-A-C c.2934A>C p.Q978H Missense 16/16 - 1
5-112174233-C-G c.2942C>G p.P981R Missense 16/16 - 1
5-112174233-C-CTA c.2942_2943insTA p.S982Tfs*24 Frameshift 16/16 - 1
5-112174234-C-T c.2943C>T p.P981= Synonymous 16/16 - 1
5-112174235-T-G c.2944T>G p.S982A Missense 16/16 - 26
5-112174236-C-T c.2945C>T p.S982L Missense 16/16 - 1
5-112174236-C-A c.2945C>A p.S982* Nonsense 16/16 - 2
5-112174237-G-T c.2946G>T p.S982= Synonymous 16/16 - 1
5-112174241-G-T c.2950G>T p.E984* Nonsense 16/16 - 4
5-112174243-A-AT c.2953dup p.S985Ffs*4 Frameshift 16/16 - 1
5-112174245-C-G c.2954C>G p.S985C Missense 16/16 - 1
5-112174245-TCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTA-T c.2954_3012del p.S985Cfs*3 Frameshift 16/16 - 1
5-112174249-T-A c.2958T>A p.Y986* Nonsense 16/16 - 1
5-112174249-T-G c.2958T>G p.Y986* Nonsense 16/16 - 3
5-112174248-A-AT c.2959dup p.S987Ffs*2 Frameshift 16/16 - 1
5-112174253-G-T c.2962G>T p.E988* Nonsense 16/16 - 1
5-112174256-G-A c.2965G>A p.D989N Missense 16/16 - 1
5-112174262-G-T c.2971G>T p.E991* Nonsense 16/16 - 7
5-112174268-A-T c.2977A>T p.K993* Nonsense 16/16 - 3
5-112174263-AAAGT-A c.2977_2980del p.K993Ffs*11 Frameshift 16/16 - 3
5-112174270-G-C c.2979G>C p.K993N Missense 16/16 - 2
5-112174270-G-T c.2979G>T p.K993N Missense 16/16 - 2
5-112174270-AG-A c.2979del p.K993Nfs*12 Frameshift 16/16 - 1
5-112174270-GTTTTGCAGTTA-G c.2981_2991del p.F994Wfs*10 Frameshift 16/16 - 1
5-112174275-TG-T c.2984del p.C995Sfs*10 Frameshift 16/16 - 1
5-112174277-A-G c.2986A>G p.S996G Missense 16/16 - 1
5-112174278-G-GAC c.2987_2988insAC p.S996Rfs*10 Frameshift 16/16 - 1
5-112174280-T-TAA c.2990_2991insAA p.Y997* Nonsense 16/16 - 1
5-112174279-TTATGG-T c.2990_2994del p.Y997Sfs*9 Frameshift 16/16 - 1
5-112174282-T-A c.2991T>A p.Y997* Nonsense 16/16 - 2
5-112174282-T-G c.2991T>G p.Y997* Nonsense 16/16 - 1
5-112174285-T-TA c.2994_2995insA p.Q999Tfs*9 Frameshift 16/16 - 1
5-112174286-C-T c.2995C>T p.Q999* Nonsense 16/16 - 1
5-112174286-C-G c.2995C>G p.Q999E Missense 16/16 - 1
5-112174291-C-G c.3000C>G p.Y1000* Nonsense 16/16 - 1
5-112174296-C-T c.3005C>T p.A1002V Missense 16/16 - 1
5-112174297-C-T c.3006C>T p.A1002= Synonymous 16/16 - 1
5-112174301-CCTAGCCCATAA-C c.3010_3020del p.L1004Nfs*3 Frameshift 16/16 - 1
5-112174302-CTAGCCCAT-C c.3011_3018del p.L1004Qfs*4 Frameshift 16/16 - 1
5-112174304-G-C c.3013G>C p.A1005P Missense 16/16 - 1
5-112174304-G-A c.3013G>A p.A1005T Missense 16/16 - 1
5-112174316-C-T c.3025C>T p.H1009Y Missense 16/16 - 1
5-112174317-A-AT c.3027dup p.S1010* Nonsense 16/16 - 1
5-112174322-G-A c.3031G>A p.A1011T Missense 16/16 - 1
5-112174323-C-CA c.3035dup p.N1012Kfs*5 Frameshift 16/16 - 1
5-112174329-A-G c.3038A>G p.H1013R Missense 16/16 - 1
5-112174333-G-T c.3042G>T p.M1014I Missense 16/16 - 1
5-112174339-TAATG-T c.3050_3053del p.N1017Mfs*4 Frameshift 16/16 - 2
5-112174343-G-A c.3052G>A p.D1018N Missense 16/16 - 1
5-112174349-G-A c.3058G>A p.E1020K Missense 16/16 - 3
5-112174349-G-T c.3058G>T p.E1020* Nonsense 16/16 - 2
5-112174357-T-TGA c.3066_3067insGA p.T1023Efs*4 Frameshift 16/16 - 1
5-112174357-T-TA c.3067dup p.T1023Nfs*6 Frameshift 16/16 - 1
5-112174359-AC-A c.3068del p.T1023Nfs*3 Frameshift 16/16 - 1
5-112174357-TAC-T c.3069_3070del p.P1024Nfs*4 Frameshift 16/16 - 1
5-112174361-C-G c.3070C>G p.P1024A Missense 16/16 - 1
5-112174360-AC-A c.3071del p.P1024Qfs*2 Frameshift 16/16 - 1
5-112174364-A-G c.3073A>G p.I1025V Missense 16/16 - 1
5-112174368-A-C c.3077A>C p.N1026T Missense 16/16 - 1
5-112174368-A-G c.3077A>G p.N1026S Missense 16/16 - 7
5-112174371-A-G c.3080A>G p.Y1027C Missense 16/16 - 1
5-112174372-T-A c.3081T>A p.Y1027* Nonsense 16/16 - 1
5-112174372-T-G c.3081T>G p.Y1027* Nonsense 16/16 - 1
5-112174374-G-A c.3083G>A p.S1028N Missense 16/16 - 1
5-112174376-C-A c.3085C>A p.L1029I Missense 16/16 - 1
5-112174379-A-T c.3088A>T p.K1030* Nonsense 16/16 - 1
5-112174384-T-G c.3093T>G p.Y1031* Nonsense 16/16 - 3
5-112174384-T-A c.3093T>A p.Y1031* Nonsense 16/16 - 2
5-112174386-C-A c.3095C>A p.S1032* Nonsense 16/16 - 3
5-112174386-C-G c.3095C>G p.S1032* Nonsense 16/16 - 1
5-112174389-GATGAGCAGTT-G c.3098_3107del p.D1033Gfs*20 Frameshift 16/16 - 1
5-112174389-A-AT c.3099dup p.E1034* Nonsense 16/16 - 1
5-112174391-G-T c.3100G>T p.E1034* Nonsense 16/16 - 1
5-112174391-G-C c.3100G>C p.E1034Q Missense 16/16 - 1
5-112174394-C-T c.3103C>T p.Q1035* Nonsense 16/16 - 1
5-112174395-A-G c.3104A>G p.Q1035R Missense 16/16 - 1
5-112174410-AGGCAAAGTCCTTCACAGAATGAAAGATGGGC-A c.3119_3149del p.R1040Kfs*6 Frameshift 16/16 - 1
5-112174412-C-T c.3121C>T p.Q1041* Nonsense 16/16 - 3
5-112174412-C-A c.3121C>A p.Q1041K Missense 16/16 - 1
5-112174412-C-G c.3121C>G p.Q1041E Missense 16/16 - 1
5-112174415-A-G c.3124A>G p.S1042G Missense 16/16 - 2
5-112174412-CA-C c.3124del p.S1042Vfs*14 Frameshift 16/16 - 1
5-112174419-C-T c.3128C>T p.P1043L Missense 16/16 - 1
5-112174420-T-C c.3129T>C p.P1043= Synonymous 16/16 - 1
5-112174422-C-A c.3131C>A p.S1044* Nonsense 16/16 - 1
5-112174422-C-T c.3131C>T p.S1044L Missense 16/16 - 1
5-112174424-C-T c.3133C>T p.Q1045* Nonsense 16/16 - 4
5-112174427-A-C c.3136A>C p.N1046H Missense 16/16 - 2
5-112174430-G-T c.3139G>T p.E1047* Nonsense 16/16 - 2
5-112174430-G-A c.3139G>A p.E1047K Missense 16/16 - 1
5-112174431-A-T c.3140A>T p.E1047V Missense 16/16 - 1
5-112174431-A-G c.3140A>G p.E1047G Missense 16/16 - 5
5-112174437-G-A c.3146G>A p.W1049* Nonsense 16/16 - 3
5-112174438-G-A c.3147G>A p.W1049* Nonsense 16/16 - 6
5-112174436-TG-T c.3148del p.A1050Qfs*6 Frameshift 16/16 - 1
5-112174440-GC-G c.3149del p.A1050Efs*6 Frameshift 16/16 - 4
5-112174446-C-T c.3155C>T p.P1052L Missense 16/16 - 1
5-112174447-CA-C c.3159del p.K1053Nfs*3 Frameshift 16/16 - 1
5-112174447-C-CA c.3159dup p.H1054Tfs*6 Frameshift 16/16 - 1
5-112174451-C-T c.3160C>T p.H1054Y Missense 16/16 - 1
5-112174452-A-G c.3161A>G p.H1054R Missense 16/16 - 1
5-112174453-CAT-C c.3164_3165del p.I1055Nfs*4 Frameshift 16/16 - 2
5-112174453-CATAAT-C c.3164_3168del p.I1055Rfs*3 Frameshift 16/16 - 2
5-112174456-A-G c.3165A>G p.I1055M Missense 16/16 - 1
5-112174456-A-T c.3165A>T p.I1055= Synonymous 16/16 - 2
5-112174455-TA-T c.3166del p.I1056* Frameshift 16/16 - 1
5-112174455-T-TA c.3166dup p.I1056Nfs*4 Frameshift 16/16 - 1
5-112174460-G-T c.3169G>T p.E1057* Nonsense 16/16 - 2
5-112174461-A-G c.3170A>G p.E1057G Missense 16/16 - 1
5-112174464-A-G c.3173A>G p.D1058G Missense 16/16 - 3
5-112174466-G-T c.3175G>T p.E1059* Nonsense 16/16 - 2
5-112174466-GA-G c.3178del p.I1060* Frameshift 16/16 - 1
5-112174469-A-G c.3178A>G p.I1060V Missense 16/16 - 1
5-112174471-A-AT c.3180_3181insT p.K1061* Nonsense 16/16 - 1
5-112174470-TAA-T c.3182_3183del p.K1061Tfs*3 Frameshift 16/16 - 3
5-112174470-TAAAAC-T c.3183_3187del p.Q1062* Frameshift 16/16 - 26
5-112174475-C-T c.3184C>T p.Q1062* Nonsense 16/16 - 5
5-112174471-AAAAC-A c.3184_3187del p.Q1062Vfs*63 Frameshift 16/16 - 2
5-112174475-CAA-C c.3186_3187del p.S1063* Frameshift 16/16 - 2
5-112174477-AAGTG-A c.3189_3192del p.E1064Kfs*61 Frameshift 16/16 - 2
5-112174483-G-T c.3192G>T p.E1064D Missense 16/16 - 1
5-112174484-C-T c.3193C>T p.Q1065* Nonsense 16/16 - 3
5-112174489-A-G c.3198A>G p.R1066= Synonymous 16/16 - 1
5-112174490-C-T c.3199C>T p.Q1067* Nonsense 16/16 - 4
5-112174490-CA-AC c.3199_3200delinsAC p.Q1067T Missense 16/16 - 1
5-112174491-A-G c.3200A>G p.Q1067R Missense 16/16 - 1
5-112174489-ACAAT-A c.3202_3205del p.S1068Gfs*57 Frameshift 16/16 - 10
5-112174493-T-G c.3202T>G p.S1068A Missense 16/16 - 1
5-112174494-C-A c.3203C>A p.S1068* Nonsense 16/16 - 2
5-112174494-C-G c.3203C>G p.S1068* Nonsense 16/16 - 2
5-112174494-TCAAG-T c.3203_3206del p.S1068* Frameshift 16/16 - 1
5-112174494-C-T c.3203C>T p.S1068L Missense 16/16 - 1
5-112174496-A-G c.3205A>G p.R1069G Missense 16/16 - 1
5-112174494-C-CA c.3205dup p.R1069Kfs*12 Frameshift 16/16 - 1
5-112174502-C-T c.3211C>T p.Q1071* Nonsense 16/16 - 1
5-112174504-A-T c.3213A>T p.Q1071H Missense 16/16 - 6
5-112174504-A-C c.3213A>C p.Q1071H Missense 16/16 - 6
5-112174502-CA-C c.3214del p.S1072Vfs*54 Frameshift 16/16 - 1
5-112174508-A-T c.3217A>T p.T1073S Missense 16/16 - 1
5-112174512-AC-A c.3221del p.T1074Ifs*52 Frameshift 16/16 - 1
5-112174511-ACTTAT-A c.3222_3226del p.Y1075Cfs*4 Frameshift 16/16 - 1
5-112174514-T-TA c.3224dup p.Y1075* Nonsense 16/16 - 1
5-112174516-T-A c.3225T>A p.Y1075* Nonsense 16/16 - 1
5-112174516-T-G c.3225T>G p.Y1075* Nonsense 16/16 - 1
5-112174516-AT-A c.3225del p.P1076Lfs*50 Frameshift 16/16 - 1
5-112174517-C-A c.3226C>A p.P1076T Missense 16/16 - 1
5-112174515-ATCCTG-A c.3226_3230del p.P1076Lfs*3 Frameshift 16/16 - 1
5-112174518-C-T c.3227C>T p.P1076L Missense 16/16 - 1
5-112174520-TGTTTATACTGAGAG-T c.3229_3242del p.V1077Hfs*2 Frameshift 16/16 - 1
5-112174521-T-A c.3230T>A p.V1077D Missense 16/16 - 1
5-112174527-C-G c.3236C>G p.T1079S Missense 16/16 - 1
5-112174529-G-T c.3238G>T p.E1080* Nonsense 16/16 - 1
5-112174529-G-A c.3238G>A p.E1080K Missense 16/16 - 1
5-112174528-TGA-T c.3241_3242del p.S1081Hfs*2 Frameshift 16/16 - 2
5-112174532-A-C c.3241A>C p.S1081R Missense 16/16 - 1
5-112174535-A-G c.3244A>G p.T1082A Missense 16/16 - 1
5-112174538-TG-T c.3247del p.D1083Mfs*43 Frameshift 16/16 - 1
5-112174541-G-A c.3250G>A p.D1084N Missense 16/16 - 2
5-112174544-A-T c.3253A>T p.K1085* Nonsense 16/16 - 1
5-112174545-AAC-A c.3257_3258del p.H1086Pfs*32 Frameshift 16/16 - 1
5-112174551-TC-AA c.3260_3261delinsAA p.L1087Q Missense 16/16 - 1
5-112174549-CCT-C c.3260_3261del p.L1087Qfs*31 Frameshift 16/16 - 5
5-112174551-CTCAA-C c.3260_3263del p.L1087Rfs*38 Frameshift 16/16 - 1
5-112174552-TC-T c.3261del p.K1088Sfs*38 Frameshift 16/16 - 1
5-112174552-CA-C c.3263del p.K1088Sfs*38 Frameshift 16/16 - 1
5-112174554-A-C c.3263A>C p.K1088T Missense 16/16 - 1
5-112174556-T-C c.3265T>C p.F1089L Missense 16/16 - 1
5-112174559-C-T c.3268C>T p.Q1090* Nonsense 16/16 - 1
5-112174562-C-T c.3271C>T p.P1091S Missense 16/16 - 2
5-112174565-C-T c.3274C>T p.H1092Y Missense 16/16 - 1
5-112174569-T-C c.3278T>C p.F1093S Missense 16/16 - 1
5-112174566-AT-A c.3279del p.F1093Lfs*33 Frameshift 16/16 - 1
5-112174574-C-T c.3283C>T p.Q1095* Nonsense 16/16 - 1
5-112174577-C-T c.3286C>T p.Q1096* Nonsense 16/16 - 2
5-112174578-A-G c.3287A>G p.Q1096R Missense 16/16 - 1
5-112174579-G-T c.3288G>T p.Q1096H Missense 16/16 - 1
5-112174579-G-C c.3288G>C p.Q1096H Missense 16/16 - 1
5-112174580-G-T c.3289G>T p.E1097* Nonsense 16/16 - 2
5-112174586-G-A c.3295G>A p.V1099I Missense 16/16 - 1
5-112174586-G-C c.3295G>C p.V1099L Missense 16/16 - 1
5-112174589-T-G c.3298T>G p.S1100A Missense 16/16 - 1
5-112174586-G-GT c.3298dup p.S1100Ffs*19 Frameshift 16/16 - 1
5-112174592-CCA-TTT c.3301_3303delinsTTT p.P1101F Missense 16/16 - 1
5-112174592-C-T c.3301C>T p.P1101S Missense 16/16 - 1
5-112174597-C-A c.3306C>A p.Y1102* Nonsense 16/16 - 1
5-112174597-C-G c.3306C>G p.Y1102* Nonsense 16/16 - 1
5-112174598-A-T c.3307A>T p.R1103W Missense 16/16 - 1
5-112174598-A-G c.3307A>G p.R1103G Missense 16/16 - 1
5-112174600-G-A c.3309G>A p.R1103= Synonymous 16/16 - 1
5-112174601-T-C c.3310T>C p.S1104P Missense 16/16 - 1
5-112174598-AGGTCACG-A c.3310_3316del p.S1104Efs*20 Frameshift 16/16 - 1
5-112174602-C-A c.3311C>A p.S1104* Nonsense 16/16 - 2
5-112174602-C-G c.3311C>G p.S1104* Nonsense 16/16 - 2
5-112174603-A-G c.3312A>G p.S1104= Synonymous 16/16 - 1
5-112174604-C-A c.3313C>A p.R1105= Synonymous 16/16 - 1
5-112174606-G-A c.3315G>A p.R1105= Synonymous 16/16 - 1
5-112174606-G-C c.3315G>C p.R1105= Synonymous 16/16 - 1
5-112174606-G-T c.3315G>T p.R1105= Synonymous 16/16 - 1
5-112174604-CG-TA c.3313_3314delinsTA p.R1105* Nonsense 16/16 - 1
5-112174604-C-T c.3313C>T p.R1105W Missense 16/16 - 2
5-112174605-G-A c.3314G>A p.R1105Q Missense 16/16 - 1
5-112174607-G-T c.3316G>T p.G1106* Nonsense 16/16 - 1
5-112174607-G-A c.3316G>A p.G1106R Missense 16/16 - 2
5-112174607-G-C c.3316G>C p.G1106R Missense 16/16 - 2
5-112174604-C-CG c.3317dup p.A1107Sfs*12 Frameshift 16/16 - 1
5-112174604-CG-C c.3317del p.G1106Efs*20 Frameshift 16/16 - 1
5-112174611-C-T c.3320C>T p.A1107V Missense 16/16 - 1
5-112174614-A-G c.3323A>G p.N1108S Missense 16/16 - 1
5-112174612-CAATGGTTCAGAAACA-C c.3325_3339del p.G1109_N1113del InFrameDeletion 16/16 - 1
5-112174620-C-T c.3329C>T p.S1110L Missense 16/16 - 1
5-112174620-C-A c.3329C>A p.S1110* Nonsense 16/16 - 2
5-112174620-C-G c.3329C>G p.S1110* Nonsense 16/16 - 2
5-112174621-A-G c.3330A>G p.S1110= Synonymous 16/16 - 1
5-112174622-G-T c.3331G>T p.E1111* Nonsense 16/16 - 2
5-112174625-A-G c.3334A>G p.T1112A Missense 16/16 - 1
5-112174625-A-C c.3334A>C p.T1112P Missense 16/16 - 1
5-112174631-C-T c.3340C>T p.R1114* Nonsense 16/16 - 65
5-112174631-C-A c.3340C>A p.R1114= Synonymous 16/16 - 1
5-112174632-G-A c.3341G>A p.R1114Q Missense 16/16 - 2
5-112174636-G-T c.3345G>T p.V1115= Synonymous 16/16 - 1
5-112174637-G-C c.3346G>C p.G1116R Missense 16/16 - 1
5-112174637-G-T c.3346G>T p.G1116C Missense 16/16 - 1
5-112174639-TTC-T c.3350_3351del p.S1117* Frameshift 16/16 - 1
5-112174643-A-G c.3352A>G p.N1118D Missense 16/16 - 2
5-112174646-C-T c.3355C>T p.H1119Y Missense 16/16 - 1
5-112174648-T-C c.3357T>C p.H1119= Synonymous 16/16 - 1
5-112174649-G-A c.3358G>A p.G1120R Missense 16/16 - 1
5-112174649-G-T c.3358G>T p.G1120* Nonsense 16/16 - 1
5-112174650-G-A c.3359G>A p.G1120E Missense 16/16 - 4
5-112174650-G-C c.3359G>C p.G1120A Missense 16/16 - 1
5-112174650-GA-G c.3361del p.I1121Lfs*5 Frameshift 16/16 - 2
5-112174655-A-G c.3364A>G p.N1122D Missense 16/16 - 1
5-112174654-TAATC-T c.3366_3369del p.N1122Kfs*3 Frameshift 16/16 - 1
5-112174658-C-T c.3367C>T p.Q1123* Nonsense 16/16 - 4
5-112174661-AAT-TAA c.3370_3372delinsTAA p.N1124* Nonsense 16/16 - 1
5-112174662-A-T c.3371A>T p.N1124I Missense 16/16 - 1
5-112174665-T-C c.3374T>C p.V1125A Missense 16/16 - 8
5-112174667-A-G c.3376A>G p.S1126G Missense 16/16 - 1
5-112174667-AG-GC c.3376_3377delinsGC p.S1126A Missense 16/16 - 1
5-112174667-A-T c.3376A>T p.S1126C Missense 16/16 - 1
5-112174669-C-G c.3378C>G p.S1126R Missense 16/16 - 4
5-112174669-C-A c.3378C>A p.S1126R Missense 16/16 - 1
5-112174667-A-C c.3376A>C p.S1126R Missense 16/16 - 1
5-112174670-C-T c.3379C>T p.Q1127* Nonsense 16/16 - 1
5-112174672-G-T c.3381G>T p.Q1127H Missense 16/16 - 1
5-112174672-G-C c.3381G>C p.Q1127H Missense 16/16 - 1
5-112174673-T-G c.3382T>G p.S1128A Missense 16/16 - 1
5-112174674-C-A c.3383C>A p.S1128Y Missense 16/16 - 1
5-112174677-T-C c.3386T>C p.L1129S Missense 16/16 - 16
5-112174678-G-T c.3387G>T p.L1129F Missense 16/16 - 1
5-112174679-T-A c.3388T>A p.C1130S Missense 16/16 - 1
5-112174680-G-T c.3389G>T p.C1130F Missense 16/16 - 1
5-112174681-T-A c.3390T>A p.C1130* Nonsense 16/16 - 1
5-112174682-C-T c.3391C>T p.Q1131* Nonsense 16/16 - 6
5-112174684-A-T c.3393A>T p.Q1131H Missense 16/16 - 1
5-112174684-A-C c.3393A>C p.Q1131H Missense 16/16 - 1
5-112174685-AG-A c.3394del p.E1132Kfs*33 Frameshift 16/16 - 1
5-112174688-AG-A c.3397del p.D1133Mfs*32 Frameshift 16/16 - 1
5-112174688-GA-CT c.3397_3398delinsCT p.D1133L Missense 16/16 - 1
5-112174689-A-T c.3398A>T p.D1133V Missense 16/16 - 1
5-112174691-G-C c.3400G>C p.D1134H Missense 16/16 - 1
5-112174693-ACTATG-A c.3402_3406del p.D1134Efs*3 Frameshift 16/16 - 1
5-112174693-CTA-C c.3404_3405del p.Y1135* Frameshift 16/16 - 2
5-112174704-GA-G c.3413del p.D1138Vfs*27 Frameshift 16/16 - 1
5-112174709-C-G c.3418C>G p.P1140A Missense 16/16 - 2
5-112174710-C-T c.3419C>T p.P1140L Missense 16/16 - 2
5-112174708-GC-G c.3419del p.P1140Lfs*25 Frameshift 16/16 - 5
5-112174716-AT-A c.3427del p.Y1143Ifs*22 Frameshift 16/16 - 1
5-112174724-G-T c.3433G>T p.E1145* Nonsense 16/16 - 1
5-112174724-G-A c.3433G>A p.E1145K Missense 16/16 - 3
5-112174725-A-G c.3434A>G p.E1145G Missense 16/16 - 1
5-112174727-C-T c.3436C>T p.R1146C Missense 16/16 - 2
5-112174728-G-GT c.3439dup p.Y1147Lfs*3 Frameshift 16/16 - 1
5-112174732-C-G c.3441C>G p.Y1147* Nonsense 16/16 - 1
5-112174733-T-G c.3442T>G p.S1148A Missense 16/16 - 1
5-112174736-G-A c.3445G>A p.E1149K Missense 16/16 - 1
5-112174742-G-T c.3451G>T p.E1151* Nonsense 16/16 - 2
5-112174735-TGAA-T c.3451_3453del p.E1151del InFrameDeletion 16/16 - 1
5-112174743-A-G c.3452A>G p.E1151G Missense 16/16 - 1
5-112174745-C-T c.3454C>T p.Q1152* Nonsense 16/16 - 3
5-112174747-G-C c.3456G>C p.Q1152H Missense 16/16 - 1
5-112174751-G-T c.3460G>T p.E1154* Nonsense 16/16 - 1
5-112174755-A-G c.3464A>G p.E1155G Missense 16/16 - 1
5-112174755-GAAGAA-G c.3464_3468del p.E1155Gfs*7 Frameshift 16/16 - 1
5-112174757-G-T c.3466G>T p.E1156* Nonsense 16/16 - 1
5-112174757-G-C c.3466G>C p.E1156Q Missense 16/16 - 1
5-112174758-A-G c.3467A>G p.E1156G Missense 16/16 - 1
5-112174758-GAAGA-G c.3467_3470del p.E1156Gfs*8 Frameshift 16/16 - 1
5-112174759-A-AT c.3468_3469insT p.E1157* Nonsense 16/16 - 1
5-112174750-TGAA-T c.3468_3470del p.E1157del InFrameDeletion 16/16 - 3
5-112174758-AAGAG-A c.3471_3474del p.E1157Dfs*7 Frameshift 16/16 - 3
5-112174762-G-A c.3471G>A p.E1157= Synonymous 16/16 - 2
5-112174763-A-C c.3472A>C p.R1158= Synonymous 16/16 - 1
5-112174758-AAG-A c.3473_3474del p.R1158Tfs*5 Frameshift 16/16 - 2
5-112174767-C-T c.3476C>T p.P1159L Missense 16/16 - 1
5-112174769-A-G c.3478A>G p.T1160A Missense 16/16 - 1
5-112174770-C-A c.3479C>A p.T1160K Missense 16/16 - 4
5-112174772-A-G c.3481A>G p.N1161D Missense 16/16 - 1
5-112174774-T-G c.3483T>G p.N1161K Missense 16/16 - 2
5-112174774-T-A c.3483T>A p.N1161K Missense 16/16 - 2
5-112174776-A-T c.3485A>T p.Y1162F Missense 16/16 - 1
5-112174777-T-A c.3486T>A p.Y1162* Nonsense 16/16 - 2
5-112174776-A-AT c.3486dup p.S1163* Nonsense 16/16 - 1
5-112174778-AGC-TGA c.3487_3489delinsTGA p.S1163* Nonsense 16/16 - 1
5-112174783-A-AT c.3492_3493insT p.K1165* Nonsense 16/16 - 1
5-112174784-A-T c.3493A>T p.K1165* Nonsense 16/16 - 2
5-112174787-T-TA c.3497dup p.Y1166* Nonsense 16/16 - 1
5-112174789-T-A c.3498T>A p.Y1166* Nonsense 16/16 - 1
5-112174792-T-G c.3501T>G p.N1167K Missense 16/16 - 1
5-112174792-T-A c.3501T>A p.N1167K Missense 16/16 - 1
5-112174789-TAATG-T c.3501_3504del p.N1167Kfs*14 Frameshift 16/16 - 1
5-112174793-G-T c.3502G>T p.E1168* Nonsense 16/16 - 1
5-112174792-TGAAGA-T c.3505_3509del p.E1169Tfs*8 Frameshift 16/16 - 2
5-112174802-C-T c.3511C>T p.R1171C Missense 16/16 - 3
5-112174802-C-G c.3511C>G p.R1171G Missense 16/16 - 1
5-112174803-G-A c.3512G>A p.R1171H Missense 16/16 - 5
5-112174803-G-GT c.3513dup p.H1172Sfs*7 Frameshift 16/16 - 1
5-112174805-C-T c.3514C>T p.H1172Y Missense 16/16 - 1
5-112174807-T-A c.3516T>A p.H1172Q Missense 16/16 - 1
5-112174807-T-G c.3516T>G p.H1172Q Missense 16/16 - 1
5-112174807-AT-A c.3516del p.H1172Qfs*10 Frameshift 16/16 - 1
5-112174808-TGTGGATCAGC-T c.3517_3526del p.V1173Lfs*6 Frameshift 16/16 - 1
5-112174809-T-G c.3518T>G p.V1173G Missense 16/16 - 1
5-112174812-A-G c.3521A>G p.D1174G Missense 16/16 - 1
5-112174813-ATC-A c.3522_3523del p.D1174Efs*4 Frameshift 16/16 - 1
5-112174814-C-T c.3523C>T p.Q1175* Nonsense 16/16 - 1
5-112174818-C-T c.3527C>T p.P1176L Missense 16/16 - 1
5-112174820-A-AT c.3531dup p.D1178* Nonsense 16/16 - 1
5-112174824-ATTATAGT-A c.3537_3543del p.Y1179* Frameshift 16/16 - 1
5-112174825-TTA-T c.3537_3538del p.Y1179* Frameshift 16/16 - 1
5-112174830-GT-G c.3542del p.L1181* Frameshift 16/16 - 1
5-112174835-A-T c.3544A>T p.K1182* Nonsense 16/16 - 1
5-112174839-A-T c.3548A>T p.Y1183F Missense 16/16 - 1
5-112174840-T-A c.3549T>A p.Y1183* Nonsense 16/16 - 1
5-112174840-T-G c.3549T>G p.Y1183* Nonsense 16/16 - 1
5-112174842-C-T c.3551C>T p.A1184V Missense 16/16 - 1
5-112174849-T-TA c.3559dup p.I1187Nfs*21 Frameshift 16/16 - 1
5-112174851-T-G c.3560T>G p.I1187S Missense 16/16 - 1
5-112174852-TC-T c.3563del p.P1188Lfs*77 Frameshift 16/16 - 1
5-112174857-C-T c.3566C>T p.S1189L Missense 16/16 - 1
5-112174859-T-A c.3568T>A p.S1190T Missense 16/16 - 1
5-112174860-C-A c.3569C>A p.S1190* Nonsense 16/16 - 2
5-112174860-C-G c.3569C>G p.S1190* Nonsense 16/16 - 2
5-112174862-C-T c.3571C>T p.Q1191* Nonsense 16/16 - 1
5-112174863-A-G c.3572A>G p.Q1191R Missense 16/16 - 1
5-112174864-GA-G c.3576del p.K1192Nfs*73 Frameshift 16/16 - 1
5-112174866-AAC-A c.3577_3578del p.Q1193Vfs*14 Frameshift 16/16 - 3
5-112174868-C-T c.3577C>T p.Q1193* Nonsense 16/16 - 1
5-112174872-C-A c.3581C>A p.S1194* Nonsense 16/16 - 2
5-112174872-C-G c.3581C>G p.S1194* Nonsense 16/16 - 2
5-112174874-TT-GC c.3583_3584delinsGC p.F1195A Missense 16/16 - 1
5-112174878-C-A c.3587C>A p.S1196* Nonsense 16/16 - 4
5-112174880-T-C c.3589T>C p.F1197L Missense 16/16 - 1
5-112174882-C-A c.3591C>A p.F1197L Missense 16/16 - 1
5-112174882-C-G c.3591C>G p.F1197L Missense 16/16 - 1
5-112174881-T-C c.3590T>C p.F1197S Missense 16/16 - 2
5-112174884-C-G c.3593C>G p.S1198* Nonsense 16/16 - 2
5-112174884-C-A c.3593C>A p.S1198* Nonsense 16/16 - 1
5-112174886-A-T c.3595A>T p.K1199* Nonsense 16/16 - 2
5-112174884-CAA-C c.3595_3596del p.K1199Efs*8 Frameshift 16/16 - 3
5-112174892-T-C c.3601T>C p.S1201P Missense 16/16 - 1
5-112174893-C-T c.3602C>T p.S1201L Missense 16/16 - 2
5-112174893-C-G c.3602C>G p.S1201* Nonsense 16/16 - 1
5-112174895-T-C c.3604T>C p.S1202P Missense 16/16 - 1
5-112174898-G-T c.3607G>T p.G1203* Nonsense 16/16 - 1
5-112174906-C-CT c.3615_3616insT p.S1206* Nonsense 16/16 - 1
5-112174907-A-G c.3616A>G p.S1206G Missense 16/16 - 1
5-112174915-C-T c.3624C>T p.T1208= Synonymous 16/16 - 1
5-112174916-G-T c.3625G>T p.E1209* Nonsense 16/16 - 3
5-112174916-G-A c.3625G>A p.E1209K Missense 16/16 - 1
5-112174914-CCGAA-C c.3625_3628del p.E1209Ifs*55 Frameshift 16/16 - 1
5-112174919-CAT-C c.3631_3632del p.M1211Vfs*5 Frameshift 16/16 - 1
5-112174921-T-TA c.3631dup p.M1211Nfs*6 Frameshift 16/16 - 1
5-112174922-A-G c.3631A>G p.M1211V Missense 16/16 - 2
5-112174922-TATGTC-T c.3631_3635del p.M1211Ffs*4 Frameshift 16/16 - 1
5-112174922-ATG-A c.3633_3634del p.M1211Ifs*5 Frameshift 16/16 - 1
5-112174929-C-G c.3638C>G p.S1213* Nonsense 16/16 - 1
5-112174935-G-T c.3644G>T p.S1215I Missense 16/16 - 1
5-112174936-T-C c.3645T>C p.S1215= Synonymous 16/16 - 1
5-112174936-GT-G c.3645del p.S1215Rfs*50 Frameshift 16/16 - 1
5-112174937-G-T c.3646G>T p.E1216* Nonsense 16/16 - 2
5-112174936-TGAGAATAC-T c.3647_3654del p.E1216Vfs*6 Frameshift 16/16 - 1
5-112174940-A-G c.3649A>G p.N1217D Missense 16/16 - 1
5-112174943-A-T c.3652A>T p.T1218S Missense 16/16 - 1
5-112174944-C-T c.3653C>T p.T1218M Missense 16/16 - 3
5-112174946-T-G c.3655T>G p.S1219A Missense 16/16 - 1
5-112174948-CACACCTTCATCT-C c.3659_3670del p.T1220_S1223del InFrameDeletion 16/16 - 1
5-112174957-CATCTAATGCCAAGA-C c.3666_3679del p.S1223Afs*12 Frameshift 16/16 - 1
5-112174959-C-T c.3668C>T p.S1223F Missense 16/16 - 1
5-112174964-G-T c.3673G>T p.A1225S Missense 16/16 - 1
5-112174967-A-T c.3676A>T p.K1226* Nonsense 16/16 - 1
5-112174973-C-T c.3682C>T p.Q1228* Nonsense 16/16 - 4
5-112174979-C-T c.3688C>T p.Q1230* Nonsense 16/16 - 3
5-112174989-C-T c.3698C>T p.P1233L Missense 16/16 - 1
5-112174991-AGT-TGA c.3700_3702delinsTGA p.S1234* Nonsense 16/16 - 1
5-112175000-C-T c.3709C>T p.Q1237* Nonsense 16/16 - 2
5-112174997-GCA-G c.3709_3710del p.Q1237Efs*2 Frameshift 16/16 - 1
5-112175007-G-A c.3716G>A p.R1239K Missense 16/16 - 1
5-112175009-AG-TA c.3718_3719delinsTA p.S1240Y Missense 16/16 - 1
5-112175012-G-C c.3721G>C p.G1241R Missense 16/16 - 1
5-112175012-GGTCAGCCTCAAAAGGCTGCCACTTGCAAA-G c.3724_3752del p.Q1242Ffs*4 Frameshift 16/16 - 1
5-112175018-C-T c.3727C>T p.P1243S Missense 16/16 - 1
5-112175018-CCT-C c.3729_3730del p.Q1244Kfs*11 Frameshift 16/16 - 1
5-112175021-C-T c.3730C>T p.Q1244* Nonsense 16/16 - 3
5-112175020-T-TC c.3730dup p.Q1244Pfs*12 Frameshift 16/16 - 1
5-112175022-A-T c.3731A>T p.Q1244L Missense 16/16 - 1
5-112175023-A-G c.3732A>G p.Q1244= Synonymous 16/16 - 1
5-112175025-A-T c.3734A>T p.K1245M Missense 16/16 - 1
5-112175021-CA-C c.3734del p.K1245Rfs*20 Frameshift 16/16 - 1
5-112175027-G-A c.3736G>A p.A1246T Missense 16/16 - 1
5-112175030-G-A c.3739G>A p.A1247T Missense 16/16 - 1
5-112175031-C-T c.3740C>T p.A1247V Missense 16/16 - 2
5-112175038-C-A c.3747C>A p.C1249* Nonsense 16/16 - 4
5-112175039-A-T c.3748A>T p.K1250* Nonsense 16/16 - 2
5-112175038-CAA-C c.3749_3750del p.K1250Sfs*5 Frameshift 16/16 - 2
5-112175041-A-C c.3750A>C p.K1250N Missense 16/16 - 1
5-112175041-A-T c.3750A>T p.K1250N Missense 16/16 - 1
5-112175046-C-A c.3755C>A p.S1252Y Missense 16/16 - 2
5-112175047-T-TCG c.3756_3757insCG p.S1253Rfs*13 Frameshift 16/16 - 1
5-112175048-T-G c.3757T>G p.S1253A Missense 16/16 - 1
5-112175048-T-C c.3757T>C p.S1253P Missense 16/16 - 1
5-112175049-TC-T c.3758del p.S1253Lfs*12 Frameshift 16/16 - 1
5-112175052-T-A c.3761T>A p.I1254N Missense 16/16 - 1
5-112175057-C-T c.3766C>T p.Q1256* Nonsense 16/16 - 1
5-112175057-CA-GC c.3766_3767delinsGC p.Q1256A Missense 16/16 - 1
5-112175057-C-CA c.3768dup p.E1257Rfs*19 Frameshift 16/16 - 1
5-112175060-G-T c.3769G>T p.E1257* Nonsense 16/16 - 2
5-112175065-A-T c.3774A>T p.T1258= Synonymous 16/16 - 1
5-112175066-AT-GC c.3775_3776delinsGC p.I1259A Missense 16/16 - 2
5-112175066-A-C c.3775A>C p.I1259L Missense 16/16 - 1
5-112175068-A-G c.3777A>G p.I1259M Missense 16/16 - 1
5-112175069-C-T c.3778C>T p.Q1260* Nonsense 16/16 - 1
5-112175067-TAC-T c.3778_3779del p.Q1260Dfs*15 Frameshift 16/16 - 1
5-112175072-ACT-TAA c.3781_3783delinsTAA p.T1261* Nonsense 16/16 - 1
5-112175073-C-G c.3782C>G p.T1261S Missense 16/16 - 1
5-112175075-TA-GC c.3784_3785delinsGC p.Y1262A Missense 16/16 - 2
5-112175076-A-G c.3785A>G p.Y1262C Missense 16/16 - 1
5-112175077-T-A c.3786T>A p.Y1262* Nonsense 16/16 - 2
5-112175079-G-T c.3788G>T p.C1263F Missense 16/16 - 1
5-112175079-G-A c.3788G>A p.C1263Y Missense 16/16 - 1
5-112175080-T-A c.3789T>A p.C1263* Nonsense 16/16 - 1
5-112175084-G-A c.3793G>A p.E1265K Missense 16/16 - 1
5-112175084-G-C c.3793G>C p.E1265Q Missense 16/16 - 2
5-112175086-A-C c.3795A>C p.E1265D Missense 16/16 - 1
5-112175086-A-T c.3795A>T p.E1265D Missense 16/16 - 1
5-112175093-C-T c.3802C>T p.P1268S Missense 16/16 - 1
5-112175094-C-T c.3803C>T p.P1268L Missense 16/16 - 1
5-112175091-CTCCAATATGTTTT-C c.3803_3815del p.P1268Qfs*16 Frameshift 16/16 - 2
5-112175094-CA-C c.3805del p.I1269Yfs*19 Frameshift 16/16 - 1
5-112175096-A-C c.3805A>C p.I1269L Missense 16/16 - 1
5-112175096-A-T c.3805A>T p.I1269L Missense 16/16 - 1
5-112175096-A-AT c.3806dup p.C1270Mfs*6 Frameshift 16/16 - 1
5-112175095-AAT-A c.3807_3808del p.I1269Mfs*6 Frameshift 16/16 - 2
5-112175100-G-GC c.3809_3810insC p.S1272Ffs*4 Frameshift 16/16 - 1
5-112175101-T-TC c.3810_3811insC p.F1271Lfs*5 Frameshift 16/16 - 1
5-112175101-T-A c.3810T>A p.C1270* Nonsense 16/16 - 1
5-112175102-T-A c.3811T>A p.F1271I Missense 16/16 - 1
5-112175105-T-G c.3814T>G p.S1272A Missense 16/16 - 1
5-112175105-TC-GG c.3814_3815delinsGG p.S1272G Missense 16/16 - 1
5-112175100-GT-G c.3814del p.S1272Qfs*16 Frameshift 16/16 - 1
5-112175106-C-A c.3815C>A p.S1272* Nonsense 16/16 - 3
5-112175106-C-G c.3815C>G p.S1272* Nonsense 16/16 - 2
5-112175109-G-C c.3818G>C p.R1273T Missense 16/16 - 1
5-112175114-AG-GC c.3823_3824delinsGC p.S1275A Missense 16/16 - 1
5-112175115-G-C c.3824G>C p.S1275T Missense 16/16 - 2
5-112175112-GTAGTTCAT-G c.3824_3831del p.S1275Ifs*7 Frameshift 16/16 - 1
5-112175117-T-G c.3826T>G p.S1276A Missense 16/16 - 1
5-112175115-GT-G c.3826del p.S1276Hfs*12 Frameshift 16/16 - 1
5-112175117-T-C c.3826T>C p.S1276P Missense 16/16 - 1
5-112175118-C-G c.3827C>G p.S1276* Nonsense 16/16 - 1
5-112175121-T-A c.3830T>A p.L1277* Nonsense 16/16 - 2
5-112175121-T-G c.3830T>G p.L1277* Nonsense 16/16 - 2
5-112175119-AT-A c.3830del p.L1277Yfs*11 Frameshift 16/16 - 1
5-112175123-T-G c.3832T>G p.S1278A Missense 16/16 - 1
5-112175123-T-C c.3832T>C p.S1278P Missense 16/16 - 1
5-112175124-C-A c.3833C>A p.S1278* Nonsense 16/16 - 4
5-112175124-C-T c.3833C>T p.S1278L Missense 16/16 - 1
5-112175124-C-G c.3833C>G p.S1278* Nonsense 16/16 - 1
5-112175126-T-G c.3835T>G p.S1279A Missense 16/16 - 1
5-112175127-CTT-C c.3838_3839del p.L1280Vfs*4 Frameshift 16/16 - 1
5-112175132-T-G c.3841T>G p.S1281A Missense 16/16 - 1
5-112175132-T-C c.3841T>C p.S1281P Missense 16/16 - 1
5-112175132-T-A c.3841T>A p.S1281T Missense 16/16 - 1
5-112175133-C-A c.3842C>A p.S1281* Nonsense 16/16 - 2
5-112175133-C-G c.3842C>G p.S1281* Nonsense 16/16 - 2
5-112175135-T-C c.3844T>C p.S1282P Missense 16/16 - 1
5-112175136-C-A c.3845C>A p.S1282* Nonsense 16/16 - 3
5-112175136-C-G c.3845C>G p.S1282* Nonsense 16/16 - 1
5-112175136-C-T c.3845C>T p.S1282L Missense 16/16 - 1
5-112175139-GC-G c.3848del p.A1283Vfs*5 Frameshift 16/16 - 1
5-112175141-G-A c.3850G>A p.E1284K Missense 16/16 - 4
5-112175141-G-C c.3850G>C p.E1284Q Missense 16/16 - 1
5-112175141-G-T c.3850G>T p.E1284* Nonsense 16/16 - 4
5-112175143-A-AT c.3852_3853insT p.D1285* Nonsense 16/16 - 1
5-112175147-G-T c.3856G>T p.E1286* Nonsense 16/16 - 11
5-112175147-G-A c.3856G>A p.E1286K Missense 16/16 - 2
5-112175148-A-G c.3857A>G p.E1286G Missense 16/16 - 1
5-112175148-A-T c.3857A>T p.E1286V Missense 16/16 - 1
5-112175150-A-C c.3859A>C p.I1287L Missense 16/16 - 1
5-112175150-A-T c.3859A>T p.I1287L Missense 16/16 - 1
5-112175153-G-T c.3862G>T p.G1288* Nonsense 16/16 - 3
5-112175153-G-A c.3862G>A p.G1288R Missense 16/16 - 1
5-112175158-T-A c.3867T>A p.C1289* Nonsense 16/16 - 1
5-112175160-A-C c.3869A>C p.N1290T Missense 16/16 - 1
5-112175161-T-C c.3870T>C p.N1290= Synonymous 16/16 - 1
5-112175162-C-T c.3871C>T p.Q1291* Nonsense 16/16 - 18
5-112175162-C-G c.3871C>G p.Q1291E Missense 16/16 - 1
5-112175162-C-A c.3871C>A p.Q1291K Missense 16/16 - 1
5-112175165-A-G c.3874A>G p.T1292A Missense 16/16 - 1
5-112175166-C-T c.3875C>T p.T1292M Missense 16/16 - 4
5-112175168-GACACAGGAAGCAGATTCTGCTAATACCCT-G c.3877_3905del p.T1293Afs*12 Frameshift 16/16 - 1
5-112175171-C-T c.3880C>T p.Q1294* Nonsense 16/16 - 12
5-112175167-GAC-G c.3880_3881del p.Q1294Gfs*6 Frameshift 16/16 - 2
5-112175171-AC-A c.3880del p.Q1294Rfs*11 Frameshift 16/16 - 1
5-112175171-C-CA c.3881dup p.E1295Gfs*6 Frameshift 16/16 - 1
5-112175173-G-GT c.3882_3883insT p.E1295* Nonsense 16/16 - 1
5-112175174-G-T c.3883G>T p.E1295* Nonsense 16/16 - 8
5-112175174-GGAAGC-G c.3883_3887del p.E1295Rfs*4 Frameshift 16/16 - 1
5-112175175-A-T c.3884A>T p.E1295V Missense 16/16 - 1
5-112175174-GA-G c.3885del p.A1296Qfs*9 Frameshift 16/16 - 1
5-112175177-AGCAGATT-A c.3886_3892del p.A1296Lfs*7 Frameshift 16/16 - 1
5-112175177-G-T c.3886G>T p.A1296S Missense 16/16 - 1
5-112175178-C-T c.3887C>T p.A1296V Missense 16/16 - 1
5-112175178-C-A c.3887C>A p.A1296E Missense 16/16 - 2
5-112175179-A-AT c.3888_3889insT p.D1297* Nonsense 16/16 - 2
5-112175181-A-C c.3890A>C p.D1297A Missense 16/16 - 1
5-112175181-A-G c.3890A>G p.D1297G Missense 16/16 - 1
5-112175182-T-G c.3891T>G p.D1297E Missense 16/16 - 1
5-112175184-C-A c.3893C>A p.S1298Y Missense 16/16 - 1
5-112175185-CTG-C c.3894_3895del p.A1299* Frameshift 16/16 - 1
5-112175186-GC-CA c.3895_3896delinsCA p.A1299H Missense 16/16 - 1
5-112175186-G-A c.3895G>A p.A1299T Missense 16/16 - 1
5-112175187-C-T c.3896C>T p.A1299V Missense 16/16 - 1
5-112175188-CT-C c.3897del p.N1300Ifs*5 Frameshift 16/16 - 1
5-112175188-TAATACCCTGCA-T c.3902_3912del p.T1301Sfs*10 Frameshift 16/16 - 2
5-112175193-C-G c.3902C>G p.T1301S Missense 16/16 - 2
5-112175192-A-T c.3901A>T p.T1301S Missense 16/16 - 1
5-112175193-C-T c.3902C>T p.T1301I Missense 16/16 - 1
5-112175194-C-T c.3903C>T p.T1301= Synonymous 16/16 - 1
5-112175194-C-A c.3903C>A p.T1301= Synonymous 16/16 - 1
5-112175194-C-G c.3903C>G p.T1301= Synonymous 16/16 - 1
5-112175195-CCTGCA-C c.3904_3908del p.L1302Nfs*11 Frameshift 16/16 - 1
5-112175196-T-C c.3905T>C p.L1302P Missense 16/16 - 1
5-112175195-C-CT c.3905dup p.Q1303Afs*12 Frameshift 16/16 - 1
5-112175196-CTGCAA-C c.3905_3909del p.L1302Hfs*11 Frameshift 16/16 - 1
5-112175198-C-T c.3907C>T p.Q1303* Nonsense 16/16 - 11
5-112175200-A-AC c.3909_3910insC p.I1304Hfs*11 Frameshift 16/16 - 1
5-112175204-G-C c.3913G>C p.A1305P Missense 16/16 - 1
5-112175204-G-A c.3913G>A p.A1305T Missense 16/16 - 1
5-112175205-C-A c.3914C>A p.A1305E Missense 16/16 - 2
5-112175205-GC-G c.3914del p.A1305Efs*3 Frameshift 16/16 - 1
5-112175207-G-T c.3916G>T p.E1306* Nonsense 16/16 - 23
5-112175207-G-A c.3916G>A p.E1306K Missense 16/16 - 3
5-112175207-GAAATAAAAGAAAAGATTGGAACT-G c.3918_3940del p.I1307Vfs*3 Frameshift 16/16 - 1
5-112175210-A-C c.3919A>C p.I1307L Missense 16/16 - 1
5-112175210-A-T c.3919A>T p.I1307L Missense 16/16 - 1
5-112175210-AT-TA c.3919_3920delinsTA p.I1307* Nonsense 16/16 - 3
5-112175207-GA-G c.3919del p.I1307* Frameshift 16/16 - 3
5-112175210-A-G c.3919A>G p.I1307V Missense 16/16 - 1
5-112175207-G-GA c.3919dup p.I1307Nfs*8 Frameshift 16/16 - 1
5-112175211-T-A c.3920T>A p.I1307K Missense 16/16 - 190
5-112175207-GAAATA-G c.3920_3924del p.I1307Rfs*6 Frameshift 16/16 - 5
5-112175211-AT-A c.3920del p.I1307Kfs*14 Frameshift 16/16 - 2
5-112175209-AAT-A c.3920_3921del p.I1307Kfs*7 Frameshift 16/16 - 2
5-112175212-A-AT c.3921_3922insT p.K1308* Nonsense 16/16 - 1
5-112175212-TAAAA-T c.3921_3924del p.I1307Mfs*13 Frameshift 16/16 - 4
5-112175213-A-T c.3922A>T p.K1308* Nonsense 16/16 - 5
5-112175213-A-G c.3922A>G p.K1308E Missense 16/16 - 2
5-112175211-TAAAAGAAA-T c.3922_3929del p.K1308Dfs*4 Frameshift 16/16 - 1
5-112175211-TAAAAGAA-T c.3923_3929del p.K1308Rfs*11 Frameshift 16/16 - 1
5-112175215-A-AT c.3924_3925insT p.E1309* Nonsense 16/16 - 3
5-112175211-T-TA c.3924dup p.E1309Rfs*6 Frameshift 16/16 - 3
5-112175211-TA-T c.3924del p.E1309Kfs*12 Frameshift 16/16 - 2
5-112175216-G-T c.3925G>T p.E1309* Nonsense 16/16 - 20
5-112175216-G-C c.3925G>C p.E1309Q Missense 16/16 - 1
5-112175216-G-A c.3925G>A p.E1309K Missense 16/16 - 1
5-112175214-AAG-A c.3925_3926del p.E1309Kfs*5 Frameshift 16/16 - 1
5-112175212-AAAAG-A c.3925_3928del p.E1309Rfs*11 Frameshift 16/16 - 2
5-112175217-GAAAA-G c.3926_3929del p.E1309Gfs*11 Frameshift 16/16 - 2
5-112175217-A-G c.3926A>G p.E1309G Missense 16/16 - 1
5-112175211-TAAAAG-T c.3927_3931del p.E1309Dfs*4 Frameshift 16/16 - 60
5-112175218-A-C c.3927A>C p.E1309D Missense 16/16 - 1
5-112175218-A-T c.3927A>T p.E1309D Missense 16/16 - 1
5-112175219-A-T c.3928A>T p.K1310* Nonsense 16/16 - 3
5-112175216-GAA-G c.3928_3929del p.K1310Dfs*4 Frameshift 16/16 - 2
5-112175220-A-G c.3929A>G p.K1310R Missense 16/16 - 2
5-112175216-G-GA c.3929dup p.I1311Dfs*4 Frameshift 16/16 - 2
5-112175216-GA-G c.3929del p.K1310Rfs*11 Frameshift 16/16 - 2
5-112175220-A-T c.3929A>T p.K1310M Missense 16/16 - 1
5-112175221-G-A c.3930G>A p.K1310= Synonymous 16/16 - 2
5-112175221-G-C c.3930G>C p.K1310N Missense 16/16 - 1
5-112175221-G-T c.3930G>T p.K1310N Missense 16/16 - 1
5-112175220-AGATT-A c.3931_3934del p.I1311Efs*9 Frameshift 16/16 - 1
5-112175224-T-TTA c.3933_3934insTA p.G1312* Nonsense 16/16 - 1
5-112175224-TTGGAA-T c.3933_3937del p.G1312* Frameshift 16/16 - 1
5-112175222-ATTGGAACTAGG-A c.3933_3943del p.G1312Sfs*2 Frameshift 16/16 - 1
5-112175225-G-A c.3934G>A p.G1312R Missense 16/16 - 2
5-112175225-G-C c.3934G>C p.G1312R Missense 16/16 - 2
5-112175225-G-T c.3934G>T p.G1312* Nonsense 16/16 - 4
5-112175226-G-C c.3935G>C p.G1312A Missense 16/16 - 1
5-112175224-TG-T c.3935del p.G1312Efs*9 Frameshift 16/16 - 3
5-112175226-G-T c.3935G>T p.G1312V Missense 16/16 - 1
5-112175226-GGAACT-G c.3935_3939del p.G1312Efs*4 Frameshift 16/16 - 1
5-112175230-CT-C c.3939del p.R1314Gfs*7 Frameshift 16/16 - 1
5-112175229-CTAGGTCAGCTGAAGATCCTG-C c.3940_3959del p.R1314Efs*11 Frameshift 16/16 - 1
5-112175232-G-A c.3941G>A p.R1314K Missense 16/16 - 2
5-112175231-AG-A c.3942del p.R1314Sfs*7 Frameshift 16/16 - 3
5-112175234-T-C c.3943T>C p.S1315P Missense 16/16 - 2
5-112175234-T-TA c.3943_3944insA p.S1315Yfs*3 Frameshift 16/16 - 1
5-112175235-C-A c.3944C>A p.S1315* Nonsense 16/16 - 7
5-112175235-C-G c.3944C>G p.S1315* Nonsense 16/16 - 8
5-112175235-C-T c.3944C>T p.S1315L Missense 16/16 - 3
5-112175236-A-G c.3945A>G p.S1315= Synonymous 16/16 - 2
5-112175236-A-T c.3945A>T p.S1315= Synonymous 16/16 - 1
5-112175236-A-C c.3945A>C p.S1315= Synonymous 16/16 - 1
5-112175240-G-C c.3949G>C p.E1317Q Missense 16/16 - 71
5-112175240-G-T c.3949G>T p.E1317* Nonsense 16/16 - 7
5-112175240-TG-T c.3949del p.E1317Kfs*4 Frameshift 16/16 - 1
5-112175240-G-A c.3949G>A p.E1317K Missense 16/16 - 1
5-112175241-A-G c.3950A>G p.E1317G Missense 16/16 - 1
5-112175246-C-T c.3955C>T p.P1319S Missense 16/16 - 2
5-112175246-C-A c.3955C>A p.P1319T Missense 16/16 - 2
5-112175245-TC-T c.3956del p.P1319Lfs*2 Frameshift 16/16 - 12
5-112175245-T-TC c.3956dup p.V1320Cfs*12 Frameshift 16/16 - 1
5-112175247-C-T c.3956C>T p.P1319L Missense 16/16 - 2
5-112175247-C-A c.3956C>A p.P1319H Missense 16/16 - 1
5-112175247-CCTGTGAGCGA-C c.3956_3965del p.P1319Qfs*93 Frameshift 16/16 - 1
5-112175247-CTGTGAGCGAAG-C c.3958_3968del p.V1320Sfs*8 Frameshift 16/16 - 1
5-112175247-CTG-C c.3959_3960del p.V1320Efs*11 Frameshift 16/16 - 1
5-112175251-G-GT c.3960_3961insT p.S1321* Nonsense 16/16 - 1
5-112175251-TGAGCG-T c.3960_3964del p.E1322Sfs*8 Frameshift 16/16 - 1
5-112175250-TGA-T c.3961_3962del p.S1321Rfs*10 Frameshift 16/16 - 1
5-112175252-GAGCGAAGT-G c.3961_3968del p.E1322Sfs*7 Frameshift 16/16 - 1
5-112175252-A-G c.3961A>G p.S1321G Missense 16/16 - 2
5-112175254-GC-G c.3963del p.S1321Rfs*94 Frameshift 16/16 - 1
5-112175255-G-T c.3964G>T p.E1322* Nonsense 16/16 - 13
5-112175255-G-A c.3964G>A p.E1322K Missense 16/16 - 1
5-112175258-G-C c.3967G>C p.V1323L Missense 16/16 - 1
5-112175264-G-C c.3973G>C p.A1325P Missense 16/16 - 1
5-112175265-C-T c.3974C>T p.A1325V Missense 16/16 - 2
5-112175268-T-C c.3977T>C p.V1326A Missense 16/16 - 1
5-112175270-T-A c.3979T>A p.S1327T Missense 16/16 - 1
5-112175270-T-C c.3979T>C p.S1327P Missense 16/16 - 1
5-112175271-C-A c.3980C>A p.S1327* Nonsense 16/16 - 3
5-112175271-C-G c.3980C>G p.S1327* Nonsense 16/16 - 3
5-112175271-C-T c.3980C>T p.S1327L Missense 16/16 - 1
5-112175271-C-CA c.3981dup p.Q1328Tfs*4 Frameshift 16/16 - 2
5-112175273-C-T c.3982C>T p.Q1328* Nonsense 16/16 - 8
5-112175270-TCA-T c.3982_3983del p.Q1328Afs*3 Frameshift 16/16 - 2
5-112175274-CAG-C c.3983_3984del p.Q1328Pfs*3 Frameshift 16/16 - 1
5-112175274-A-G c.3983A>G p.Q1328R Missense 16/16 - 1
5-112175276-C-T c.3985C>T p.H1329Y Missense 16/16 - 1
5-112175276-CAC-TAA c.3985_3987delinsTAA p.H1329* Nonsense 16/16 - 1
5-112175282-AG-CT c.3991_3992inv p.R1331L Missense 16/16 - 1
5-112175282-TA-T c.3991del p.R1331Efs*84 Frameshift 16/16 - 1
5-112175282-A-T c.3991A>T p.R1331* Nonsense 16/16 - 2
5-112175285-A-G c.3994A>G p.T1332A Missense 16/16 - 1
5-112175283-G-GA c.3994dup p.T1332Nfs*10 Frameshift 16/16 - 3
5-112175283-GAACCA-G c.3995_3999del p.T1332Ifs*8 Frameshift 16/16 - 1
5-112175286-C-G c.3995C>G p.T1332S Missense 16/16 - 1
5-112175285-A-T c.3994A>T p.T1332S Missense 16/16 - 1
5-112175297-A-G c.4006A>G p.R1336G Missense 16/16 - 1
5-112175298-G-A c.4007G>A p.R1336K Missense 16/16 - 1
5-112175298-G-C c.4007G>C p.R1336T Missense 16/16 - 1
5-112175300-C-T c.4009C>T p.L1337= Synonymous 16/16 - 1
5-112175303-C-T c.4012C>T p.Q1338* Nonsense 16/16 - 33
5-112175305-G-T c.4014G>T p.Q1338H Missense 16/16 - 1
5-112175305-G-C c.4014G>C p.Q1338H Missense 16/16 - 1
5-112175307-G-GA c.4016_4017insA p.S1340Ffs*2 Frameshift 16/16 - 1
5-112175307-G-C c.4016G>C p.G1339A Missense 16/16 - 2
5-112175304-AG-A c.4016del p.G1339Vfs*76 Frameshift 16/16 - 1
5-112175307-G-A c.4016G>A p.G1339D Missense 16/16 - 1
5-112175308-T-AC c.4017delinsAC p.S1340Lfs*2 Frameshift 16/16 - 1
5-112175308-T-C c.4017T>C p.G1339= Synonymous 16/16 - 1
5-112175310-C-G c.4019C>G p.S1340C Missense 16/16 - 1
5-112175311-T-C c.4020T>C p.S1340= Synonymous 16/16 - 1
5-112175313-AG-A c.4022del p.S1341Ifs*74 Frameshift 16/16 - 1
5-112175314-T-G c.4023T>G p.S1341R Missense 16/16 - 1
5-112175314-T-A c.4023T>A p.S1341R Missense 16/16 - 1
5-112175312-A-C c.4021A>C p.S1341R Missense 16/16 - 1
5-112175315-T-G c.4024T>G p.L1342V Missense 16/16 - 1
5-112175316-T-C c.4025T>C p.L1342S Missense 16/16 - 2
5-112175313-G-GT c.4025dup p.L1342Ffs*12 Frameshift 16/16 - 1
5-112175316-TATCTTCAG-T c.4027_4034del p.S1343Ifs*8 Frameshift 16/16 - 1
5-112175319-C-G c.4028C>G p.S1343C Missense 16/16 - 1
5-112175321-T-C c.4030T>C p.S1344P Missense 16/16 - 1
5-112175322-C-A c.4031C>A p.S1344* Nonsense 16/16 - 4
5-112175322-C-G c.4031C>G p.S1344* Nonsense 16/16 - 7
5-112175323-CAGAAT-C c.4032_4036del p.E1345Sfs*7 Frameshift 16/16 - 1
5-112175324-G-T c.4033G>T p.E1345* Nonsense 16/16 - 10
5-112175322-CAG-C c.4033_4034del p.E1345Ifs*8 Frameshift 16/16 - 1
5-112175325-A-G c.4034A>G p.E1345G Missense 16/16 - 1
5-112175328-C-A c.4037C>A p.S1346* Nonsense 16/16 - 5
5-112175328-C-G c.4037C>G p.S1346* Nonsense 16/16 - 6
5-112175328-C-T c.4037C>T p.S1346L Missense 16/16 - 2
5-112175329-A-G c.4038A>G p.S1346= Synonymous 16/16 - 1
5-112175330-G-A c.4039G>A p.A1347T Missense 16/16 - 1
5-112175330-GC-G c.4041del p.R1348Gfs*67 Frameshift 16/16 - 1
5-112175333-A-G c.4042A>G p.R1348G Missense 16/16 - 1
5-112175333-A-T c.4042A>T p.R1348W Missense 16/16 - 1
5-112175337-A-G c.4046A>G p.H1349R Missense 16/16 - 2
5-112175338-C-CT c.4047_4048insT p.K1350* Nonsense 16/16 - 1
5-112175339-A-T c.4048A>T p.K1350* Nonsense 16/16 - 4
5-112175340-A-G c.4049A>G p.K1350R Missense 16/16 - 1
5-112175338-CA-C c.4050del p.A1351Lfs*64 Frameshift 16/16 - 2
5-112175342-G-A c.4051G>A p.A1351T Missense 16/16 - 2
5-112175344-T-A c.4053T>A p.A1351= Synonymous 16/16 - 1
5-112175344-T-C c.4053T>C p.A1351= Synonymous 16/16 - 1
5-112175344-T-G c.4053T>G p.A1351= Synonymous 16/16 - 1
5-112175345-G-A c.4054G>A p.V1352I Missense 16/16 - 2
5-112175346-T-C c.4055T>C p.V1352A Missense 16/16 - 5
5-112175347-T-C c.4056T>C p.V1352= Synonymous 16/16 - 1
5-112175348-G-T c.4057G>T p.E1353* Nonsense 16/16 - 10
5-112175348-G-A c.4057G>A p.E1353K Missense 16/16 - 1
5-112175348-TGAATTTTC-T c.4057_4064del p.E1353Ffs*19 Frameshift 16/16 - 1
5-112175349-A-T c.4058A>T p.E1353V Missense 16/16 - 1
5-112175349-GAATTT-G c.4058_4062del p.E1353Vfs*20 Frameshift 16/16 - 1
5-112175349-GAATTTTCT-G c.4058_4065del p.E1353Vfs*19 Frameshift 16/16 - 1
5-112175350-AATTTT-A c.4059_4063del p.E1353Dfs*20 Frameshift 16/16 - 1
5-112175351-T-C c.4060T>C p.F1354L Missense 16/16 - 2
5-112175353-T-A c.4062T>A p.F1354L Missense 16/16 - 2
5-112175353-T-G c.4062T>G p.F1354L Missense 16/16 - 2
5-112175351-ATTTTCTTCAGGAGC-A c.4060_4073del p.F1354Efs*16 Frameshift 16/16 - 1
5-112175352-T-C c.4061T>C p.F1354S Missense 16/16 - 2
5-112175353-T-C c.4062T>C p.F1354= Synonymous 16/16 - 1
5-112175350-ATT-A c.4062_4063del p.S1355Ffs*19 Frameshift 16/16 - 2
5-112175350-ATTTTC-A c.4062_4066del p.S1355Rfs*18 Frameshift 16/16 - 1
5-112175350-AT-A c.4063del p.S1355Lfs*60 Frameshift 16/16 - 2
5-112175354-T-C c.4063T>C p.S1355P Missense 16/16 - 1
5-112175350-A-AT c.4063dup p.S1355Ffs*20 Frameshift 16/16 - 1
5-112175355-C-T c.4064C>T p.S1355F Missense 16/16 - 1
5-112175356-CTT-C c.4065_4066del p.S1356Rfs*18 Frameshift 16/16 - 1
5-112175357-T-C c.4066T>C p.S1356P Missense 16/16 - 1
5-112175358-C-A c.4067C>A p.S1356* Nonsense 16/16 - 11
5-112175358-C-G c.4067C>G p.S1356* Nonsense 16/16 - 10
5-112175358-C-T c.4067C>T p.S1356L Missense 16/16 - 1
5-112175356-TTCAGGAGCGAAATC-T c.4068_4081del p.G1357Lfs*13 Frameshift 16/16 - 1
5-112175359-CA-C c.4068del p.G1357Efs*58 Frameshift 16/16 - 1
5-112175360-G-T c.4069G>T p.G1357* Nonsense 16/16 - 1
5-112175361-G-C c.4070G>C p.G1357A Missense 16/16 - 1
5-112175363-G-A c.4072G>A p.A1358T Missense 16/16 - 4
5-112175364-C-T c.4073C>T p.A1358V Missense 16/16 - 9
5-112175362-AGC-A c.4073_4074del p.A1358Efs*16 Frameshift 16/16 - 1
5-112175366-A-G c.4075A>G p.K1359E Missense 16/16 - 1
5-112175368-A-G c.4077A>G p.K1359= Synonymous 16/16 - 1
5-112175369-T-G c.4078T>G p.S1360A Missense 16/16 - 1
5-112175370-C-A c.4079C>A p.S1360Y Missense 16/16 - 1
5-112175370-C-G c.4079C>G p.S1360C Missense 16/16 - 1
5-112175368-ATCTCCCTCCAAAAG-A c.4079_4092del p.S1360Wfs*10 Frameshift 16/16 - 1
5-112175372-C-T c.4081C>T p.P1361S Missense 16/16 - 2
5-112175373-C-T c.4082C>T p.P1361L Missense 16/16 - 3
5-112175371-TCC-T c.4082_4083del p.P1361Lfs*13 Frameshift 16/16 - 2
5-112175376-C-T c.4085C>T p.S1362F Missense 16/16 - 1
5-112175377-C-T c.4086C>T p.S1362= Synonymous 16/16 - 1
5-112175377-C-G c.4086C>G p.S1362= Synonymous 16/16 - 1
5-112175377-C-A c.4086C>A p.S1362= Synonymous 16/16 - 1
5-112175378-A-T c.4087A>T p.K1363* Nonsense 16/16 - 1
5-112175378-AA-GC c.4087_4088delinsGC p.K1363A Missense 16/16 - 1
5-112175378-A-G c.4087A>G p.K1363E Missense 16/16 - 1
5-112175379-AAAAGT-A c.4088_4092del p.K1363Rfs*10 Frameshift 16/16 - 1
5-112175377-CAA-C c.4089_4090del p.S1364Wfs*10 Frameshift 16/16 - 1
5-112175381-A-G c.4090A>G p.S1364G Missense 16/16 - 1
5-112175377-C-CA c.4090dup p.S1364Kfs*11 Frameshift 16/16 - 1
5-112175387-G-GC c.4097dup p.Q1367Sfs*8 Frameshift 16/16 - 2
5-112175388-C-T c.4097C>T p.A1366V Missense 16/16 - 4
5-112175390-C-T c.4099C>T p.Q1367* Nonsense 16/16 - 43
5-112175390-CA-AC c.4099_4100delinsAC p.Q1367T Missense 16/16 - 1
5-112175390-C-G c.4099C>G p.Q1367E Missense 16/16 - 1
5-112175390-C-A c.4099C>A p.Q1367K Missense 16/16 - 1
5-112175391-A-G c.4100A>G p.Q1367R Missense 16/16 - 1
5-112175393-ACA-TTT c.4102_4104delinsTTT p.T1368F Missense 16/16 - 1
5-112175394-C-T c.4103C>T p.T1368I Missense 16/16 - 1
5-112175395-A-G c.4104A>G p.T1368= Synonymous 16/16 - 1
5-112175396-CC-GT c.4105_4106delinsGT p.P1369V Missense 16/16 - 1
5-112175396-C-T c.4105C>T p.P1369S Missense 16/16 - 2
5-112175399-A-T c.4108A>T p.K1370* Nonsense 16/16 - 5
5-112175400-A-G c.4109A>G p.K1370R Missense 16/16 - 1
5-112175398-CAA-C c.4110_4111del p.P1372Tfs*2 Frameshift 16/16 - 2
5-112175398-CA-C c.4111del p.S1371Vfs*44 Frameshift 16/16 - 1
5-112175402-AG-GA c.4111_4112delinsGA p.S1371D Missense 16/16 - 1
5-112175407-A-AC c.4118dup p.E1374* Nonsense 16/16 - 1
5-112175407-AC-A c.4118del p.P1373Lfs*42 Frameshift 16/16 - 4
5-112175410-T-C c.4119T>C p.P1373= Synonymous 16/16 - 1
5-112175409-C-CT c.4119dup p.E1374* Nonsense 16/16 - 1
5-112175411-G-A c.4120G>A p.E1374K Missense 16/16 - 4
5-112175411-G-T c.4120G>T p.E1374* Nonsense 16/16 - 7
5-112175411-GAAC-G c.4122_4124del p.E1374_H1375delinsD MultiAAMissense 16/16 - 1
5-112175414-C-T c.4123C>T p.H1375Y Missense 16/16 - 2
5-112175415-A-G c.4124A>G p.H1375R Missense 16/16 - 2
5-112175412-AAC-A c.4124_4125del p.H1375Lfs*10 Frameshift 16/16 - 1
5-112175416-C-T c.4125C>T p.H1375= Synonymous 16/16 - 1
5-112175416-ACTATGTTC-A c.4125_4132del p.H1375Qfs*8 Frameshift 16/16 - 1
5-112175417-T-A c.4126T>A p.Y1376N Missense 16/16 - 1
5-112175417-T-C c.4126T>C p.Y1376H Missense 16/16 - 1
5-112175416-C-CT c.4126dup p.Y1376Lfs*10 Frameshift 16/16 - 1
5-112175416-CTA-C c.4127_4128del p.Y1376Cfs*9 Frameshift 16/16 - 8
5-112175418-A-G c.4127A>G p.Y1376C Missense 16/16 - 1
5-112175419-T-G c.4128T>G p.Y1376* Nonsense 16/16 - 3
5-112175419-T-A c.4128T>A p.Y1376* Nonsense 16/16 - 4
5-112175419-AT-A c.4128del p.Y1376* Frameshift 16/16 - 1
5-112175418-ATG-A c.4129_4130del p.V1377Sfs*8 Frameshift 16/16 - 1
5-112175421-T-C c.4130T>C p.V1377A Missense 16/16 - 1
5-112175423-C-T c.4132C>T p.Q1378* Nonsense 16/16 - 27
5-112175423-TC-T c.4132del p.Q1378Rfs*37 Frameshift 16/16 - 1
5-112175423-TCA-T c.4132_4133del p.Q1378Gfs*7 Frameshift 16/16 - 1
5-112175424-CAG-C c.4133_4134del p.Q1378Rfs*7 Frameshift 16/16 - 1
5-112175424-A-G c.4133A>G p.Q1378R Missense 16/16 - 1
5-112175424-A-C c.4133A>C p.Q1378P Missense 16/16 - 1
5-112175422-TCAGGAGAC-T c.4133_4140del p.Q1378Pfs*5 Frameshift 16/16 - 1
5-112175426-G-T c.4135G>T p.E1379* Nonsense 16/16 - 18
5-112175427-A-T c.4136A>T p.E1379V Missense 16/16 - 1
5-112175429-A-T c.4138A>T p.T1380S Missense 16/16 - 1
5-112175429-A-C c.4138A>C p.T1380P Missense 16/16 - 1
5-112175430-C-T c.4139C>T p.T1380I Missense 16/16 - 1
5-112175431-C-T c.4140C>T p.T1380= Synonymous 16/16 - 1
5-112175432-C-T c.4141C>T p.P1381S Missense 16/16 - 1
5-112175429-A-AC c.4142dup p.L1382Tfs*4 Frameshift 16/16 - 1
5-112175433-C-T c.4142C>T p.P1381L Missense 16/16 - 1
5-112175438-CATGTTTAGCAGATGTACTTCTGTCAG-C c.4147_4172del p.M1383Ffs*3 Frameshift 16/16 - 1
5-112175440-G-A c.4149G>A p.M1383I Missense 16/16 - 1
5-112175444-AG-GC c.4153_4154delinsGC p.S1385A Missense 16/16 - 1
5-112175445-GCAGATGTACTT-G c.4156_4166del p.R1386Cfs*5 Frameshift 16/16 - 1
5-112175447-A-T c.4156A>T p.R1386* Nonsense 16/16 - 2
5-112175447-A-G c.4156A>G p.R1386G Missense 16/16 - 1
5-112175448-G-A c.4157G>A p.R1386K Missense 16/16 - 2
5-112175450-T-C c.4159T>C p.C1387R Missense 16/16 - 2
5-112175449-ATG-A c.4160_4161del p.C1387Yfs*7 Frameshift 16/16 - 1
5-112175452-T-A c.4161T>A p.C1387* Nonsense 16/16 - 1
5-112175453-A-G c.4162A>G p.T1388A Missense 16/16 - 1
5-112175456-T-G c.4165T>G p.S1389A Missense 16/16 - 1
5-112175456-T-C c.4165T>C p.S1389P Missense 16/16 - 1
5-112175457-C-T c.4166C>T p.S1389F Missense 16/16 - 1
5-112175462-AG-GC c.4171_4172delinsGC p.S1391A Missense 16/16 - 1
5-112175462-A-G c.4171A>G p.S1391G Missense 16/16 - 1
5-112175465-T-G c.4174T>G p.S1392A Missense 16/16 - 1
5-112175465-T-C c.4174T>C p.S1392P Missense 16/16 - 1
5-112175466-C-A c.4175C>A p.S1392* Nonsense 16/16 - 4
5-112175466-C-G c.4175C>G p.S1392* Nonsense 16/16 - 2
5-112175466-C-T c.4175C>T p.S1392L Missense 16/16 - 1
5-112175468-C-A c.4177C>A p.L1393I Missense 16/16 - 1
5-112175468-CT-C c.4179del p.D1394Ifs*21 Frameshift 16/16 - 1
5-112175471-G-C c.4180G>C p.D1394H Missense 16/16 - 1
5-112175471-G-T c.4180G>T p.D1394Y Missense 16/16 - 1
5-112175471-GAT-G c.4182_4183del p.D1394Efs*3 Frameshift 16/16 - 1
5-112175474-A-T c.4183A>T