PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

Annotation transcript: NM_006218.4

2243 unique variant annotations were identified in 4167 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-178866408-C-T c.-77+17C>T - intron_variant - 1/20 23
3-178874874-C-T c.-77+8483C>T - intron_variant - 1/20 7
3-178877977-G-A c.-77+11586G>A - intron_variant - 1/20 4
3-178883908-T-C c.-77+17517T>C - intron_variant - 1/20 1
3-178884337-C-T c.-77+17946C>T - intron_variant - 1/20 10
3-178886609-C-T c.-77+20218C>T - intron_variant - 1/20 3
3-178886709-C-T c.-77+20318C>T - intron_variant - 1/20 5
3-178887687-G-A c.-77+21296G>A - intron_variant - 1/20 2
3-178890650-A-G c.-77+24259A>G - intron_variant - 1/20 3
3-178893029-A-G c.-76-23509A>G - IntronicSNV - 1/20 16
3-178897674-C-A c.-76-18864C>A - IntronicSNV - 1/20 18
3-178900193-T-C c.-76-16345T>C - IntronicSNV - 1/20 8
3-178902001-C-G c.-76-14537C>G - IntronicSNV - 1/20 19
3-178903264-C-T c.-76-13274C>T - IntronicSNV - 1/20 11
3-178906696-T-A c.-76-9842T>A - IntronicSNV - 1/20 1
3-178912661-G-A c.-76-3877G>A - IntronicSNV - 1/20 1
3-178913006-C-A c.-76-3532C>A - IntronicSNV - 1/20 2
3-178914879-T-C c.-76-1659T>C - IntronicSNV - 1/20 1
3-178916614-A-G c.1A>G p.M1? Missense 2/21 - 1
3-178916618-C-A c.5C>A p.P2H Missense 2/21 - 1
3-178916619-T-G c.6T>G p.P2= Synonymous 2/21 - 13
3-178916619-T-A c.6T>A p.P2= Synonymous 2/21 - 13
3-178916619-T-C c.6T>C p.P2= Synonymous 2/21 - 13
3-178916620-C-A c.7C>A p.P3T Missense 2/21 - 1
3-178916621-C-A c.8C>A p.P3Q Missense 2/21 - 1
3-178916622-A-C c.9A>C p.P3= Synonymous 2/21 - 9
3-178916622-A-G c.9A>G p.P3= Synonymous 2/21 - 9
3-178916622-A-T c.9A>T p.P3= Synonymous 2/21 - 9
3-178916623-C-T c.10C>T p.R4* Nonsense 2/21 - 3
3-178916623-CG-AA c.10_11delinsAA p.R4K Missense 2/21 - 1
3-178916623-C-A c.10C>A p.R4= Synonymous 2/21 - 2
3-178916625-A-C c.12A>C p.R4= Synonymous 2/21 - 2
3-178916625-A-G c.12A>G p.R4= Synonymous 2/21 - 2
3-178916625-A-T c.12A>T p.R4= Synonymous 2/21 - 2
3-178916621-CACGACCATCATCAGGTGAACTGTGGGGCATCCACTTGATGCCCCCAAGAATCCTAGTAG-C c.10_68del p.R4Mfs*16 InFrameDeletion 2/21 - 1
3-178916626-C-A c.13C>A p.P5T Missense 2/21 - 1
3-178916628-A-T c.15A>T p.P5= Synonymous 2/21 - 3
3-178916628-A-G c.15A>G p.P5= Synonymous 2/21 - 3
3-178916628-A-C c.15A>C p.P5= Synonymous 2/21 - 3
3-178916629-TC-AA c.16_17delinsAA p.S6K Missense 2/21 - 1
3-178916629-TC-AG c.16_17delinsAG p.S6R Missense 2/21 - 1
3-178916630-C-A c.17C>A p.S6* Nonsense 2/21 - 1
3-178916630-C-G c.17C>G p.S6* Nonsense 2/21 - 1
3-178916631-A-T c.18A>T p.S6= Synonymous 2/21 - 4
3-178916631-A-G c.18A>G p.S6= Synonymous 2/21 - 4
3-178916631-A-C c.18A>C p.S6= Synonymous 2/21 - 4
3-178916626-CCAT-C c.19_21del p.S7del InFrameDeletion 2/21 - 1
3-178916632-TCAGGTGAACTGTGGGGCATCCACTTGATGCCCC-T c.22_54del p.G8_P18del InFrameDeletion 2/21 - 1
3-178916636-G-A c.23G>A p.G8D Missense 2/21 - 1
3-178916639-A-G c.26A>G p.E9G Missense 2/21 - 1
3-178916641-CT-GC c.28_29delinsGC p.L10A Missense 2/21 - 7
3-178916641-ACTG-A c.28_30del p.L10del InFrameDeletion 2/21 - 1
3-178916640-ACTGTGGGGCATCCACTTGATGCCC-A c.29_52del p.L10_P17del InFrameDeletion 2/21 - 1
3-178916644-T-A c.31T>A p.W11R Missense 2/21 - 2
3-178916644-T-C c.31T>C p.W11R Missense 2/21 - 2
3-178916644-TG-GC c.31_32delinsGC p.W11A Missense 2/21 - 2
3-178916646-G-T c.33G>T p.W11C Missense 2/21 - 3
3-178916646-G-C c.33G>C p.W11C Missense 2/21 - 2
3-178916647-G-A c.34G>A p.G12S Missense 2/21 - 60
3-178916647-G-T c.34G>T p.G12C Missense 2/21 - 117
3-178916647-G-C c.34G>C p.G12R Missense 2/21 - 24
3-178916647-GG-AC c.34_35delinsAC p.G12T Missense 2/21 - 5
3-178916647-GGC-TGA c.34_36delinsTGA p.G12* Nonsense 2/21 - 2
3-178916647-GG-CC c.34_35inv p.G12P Missense 2/21 - 2
3-178916647-GG-CT c.34_35delinsCT p.G12L Missense 2/21 - 1
3-178916647-GG-TT c.34_35delinsTT p.G12F Missense 2/21 - 4
3-178916647-GGC-TGG c.34_36delinsTGG p.G12W Missense 2/21 - 1
3-178916647-GG-TA c.34_35delinsTA p.G12Y Missense 2/21 - 1
3-178916648-G-A c.35G>A p.G12D Missense 2/21 - 559
3-178916648-G-T c.35G>T p.G12V Missense 2/21 - 421
3-178916648-G-C c.35G>C p.G12A Missense 2/21 - 32
3-178916648-GC-AG c.35_36delinsAG p.G12E Missense 2/21 - 2
3-178916650-A-C c.37A>C p.I13L Missense 2/21 - 5
3-178916653-C-A c.40C>A p.H14N Missense 2/21 - 2
3-178916653-CACTT-AAGTG c.40_44inv p.H14_L15delinsKW MultiAAMissense 2/21 - 1
3-178916653-CAC-AAG c.40_42delinsAAG p.H14K Missense 2/21 - 1
3-178916653-CA-TT c.40_41delinsTT p.H14F Missense 2/21 - 1
3-178916654-A-G c.41A>G p.H14R Missense 2/21 - 1
3-178916655-C-G c.42C>G p.H14Q Missense 2/21 - 1
3-178916656-TT-AAGTG c.43_44delinsAAGTG p.L15delinsKW MultiAAMissense 2/21 - 1
3-178916656-TT-CC c.43_44delinsCC p.L15P Missense 2/21 - 1
3-178916656-T-G c.43T>G p.L15V Missense 2/21 - 2
3-178916656-T-TCTC c.43_44insCTC p.H14_L15insS InFrameInsertion 2/21 - 1
3-178916657-T-G c.44T>G p.L15W Missense 2/21 - 1
3-178916659-ATG-CAT c.46_48inv p.M16H Missense 2/21 - 1
3-178916659-A-C c.46A>C p.M16L Missense 2/21 - 1
3-178916659-A-T c.46A>T p.M16L Missense 2/21 - 1
3-178916661-G-C c.48G>C p.M16I Missense 2/21 - 1
3-178916661-G-A c.48G>A p.M16I Missense 2/21 - 1
3-178916661-G-T c.48G>T p.M16I Missense 2/21 - 1
3-178916662-C-A c.49C>A p.P17T Missense 2/21 - 1
3-178916662-C-T c.49C>T p.P17S Missense 2/21 - 5
3-178916662-C-G c.49C>G p.P17A Missense 2/21 - 1
3-178916663-C-T c.50C>T p.P17L Missense 2/21 - 3
3-178916663-C-G c.50C>G p.P17R Missense 2/21 - 1
3-178916661-GCCC-G c.51_53del p.P18del InFrameDeletion 2/21 - 1
3-178916665-C-A c.52C>A p.P18T Missense 2/21 - 2
3-178916665-CC-AT c.52_53delinsAT p.P18I Missense 2/21 - 1
3-178916665-CCA-TAT c.52_54delinsTAT p.P18Y Missense 2/21 - 1
3-178916665-CCA-AAC c.52_54delinsAAC p.P18N Missense 2/21 - 1
3-178916665-C-T c.52C>T p.P18S Missense 2/21 - 2
3-178916666-C-T c.53C>T p.P18L Missense 2/21 - 1
3-178916667-A-T c.54A>T p.P18= Synonymous 2/21 - 1
3-178916668-A-T c.55A>T p.R19* Nonsense 2/21 - 2
3-178916668-AGA-TGT c.55_57delinsTGT p.R19C Missense 2/21 - 1
3-178916666-CAAG-C c.56_58del p.R19del InFrameDeletion 2/21 - 8
3-178916669-G-A c.56G>A p.R19K Missense 2/21 - 1
3-178916669-GA-G c.58del p.I20Sfs*2 Frameshift 2/21 - 1
3-178916672-T-G c.59T>G p.I20S Missense 2/21 - 6
3-178916673-C-G c.60C>G p.I20M Missense 2/21 - 3
3-178916674-CT-GC c.61_62delinsGC p.L21A Missense 2/21 - 1
3-178916674-C-A c.61C>A p.L21I Missense 2/21 - 1
3-178916674-CT-GA c.61_62delinsGA p.L21E Missense 2/21 - 1
3-178916674-CTA-GAC c.61_63delinsGAC p.L21D Missense 2/21 - 1
3-178916678-T-C c.65T>C p.V22A Missense 2/21 - 1
3-178916680-GA-AG c.67_68delinsAG p.E23R Missense 2/21 - 1
3-178916680-G-A c.67G>A p.E23K Missense 2/21 - 3
3-178916680-GAA-TGT c.67_69delinsTGT p.E23C Missense 2/21 - 1
3-178916680-GA-CT c.67_68delinsCT p.E23L Missense 2/21 - 1
3-178916680-G-T c.67G>T p.E23* Nonsense 2/21 - 1
3-178916681-GAA-G c.68_69del p.E23Vfs*16 Frameshift 2/21 - 1
3-178916682-A-G c.69A>G p.E23= Synonymous 2/21 - 1
3-178916682-A-C c.69A>C p.E23D Missense 2/21 - 1
3-178916682-A-T c.69A>T p.E23D Missense 2/21 - 1
3-178916681-A-AAAG c.69_70insAGA p.E23_C24insR InFrameInsertion 2/21 - 1
3-178916683-TG-CA c.70_71inv p.C24H Missense 2/21 - 2
3-178916683-T-G c.70T>G p.C24G Missense 2/21 - 1
3-178916683-TG-GC c.70_71delinsGC p.C24A Missense 2/21 - 1
3-178916684-G-T c.71G>T p.C24F Missense 2/21 - 1
3-178916686-TT-AA c.73_74inv p.L25K Missense 2/21 - 1
3-178916687-T-C c.74T>C p.L25S Missense 2/21 - 1
3-178916692-CC-AA c.79_80delinsAA p.P27K Missense 2/21 - 3
3-178916692-CC-TA c.79_80delinsTA p.P27* Nonsense 2/21 - 2
3-178916692-CC-AT c.79_80delinsAT p.P27I Missense 2/21 - 1
3-178916692-CC-GA c.79_80delinsGA p.P27E Missense 2/21 - 1
3-178916692-C-T c.79C>T p.P27S Missense 2/21 - 1
3-178916692-CCA-TTT c.79_81delinsTTT p.P27F Missense 2/21 - 1
3-178916693-C-A c.80C>A p.P27Q Missense 2/21 - 2
3-178916693-C-T c.80C>T p.P27L Missense 2/21 - 1
3-178916693-C-G c.80C>G p.P27R Missense 2/21 - 1
3-178916701-A-G c.88A>G p.M30V Missense 2/21 - 1
3-178916703-G-A c.90G>A p.M30I Missense 2/21 - 2
3-178916703-G-C c.90G>C p.M30I Missense 2/21 - 1
3-178916703-G-T c.90G>T p.M30I Missense 2/21 - 1
3-178916706-A-G c.93A>G p.I31M Missense 2/21 - 2
3-178916711-C-G c.98C>G p.T33S Missense 2/21 - 2
3-178916710-A-T c.97A>T p.T33S Missense 2/21 - 2
3-178916713-T-G c.100T>G p.L34V Missense 2/21 - 2
3-178916715-A-T c.102A>T p.L34F Missense 2/21 - 1
3-178916715-A-C c.102A>C p.L34F Missense 2/21 - 1
3-178916716-G-A c.103G>A p.E35K Missense 2/21 - 1
3-178916716-G-C c.103G>C p.E35Q Missense 2/21 - 1
3-178916717-A-C c.104A>C p.E35A Missense 2/21 - 1
3-178916718-A-G c.105A>G p.E35= Synonymous 2/21 - 1
3-178916719-T-A c.106T>A p.C36S Missense 2/21 - 1
3-178916720-G-C c.107G>C p.C36S Missense 2/21 - 1
3-178916719-TG-GA c.106_107delinsGA p.C36D Missense 2/21 - 1
3-178916719-TG-GC c.106_107delinsGC p.C36A Missense 2/21 - 1
3-178916720-G-A c.107G>A p.C36Y Missense 2/21 - 1
3-178916722-C-T c.109C>T p.L37F Missense 2/21 - 2
3-178916723-TC-AA c.110_111delinsAA p.L37Q Missense 2/21 - 1
3-178916725-CG-GC c.112_113delinsGC p.R38A Missense 2/21 - 14
3-178916725-C-A c.112C>A p.R38S Missense 2/21 - 9
3-178916725-C-G c.112C>G p.R38G Missense 2/21 - 2
3-178916725-C-T c.112C>T p.R38C Missense 2/21 - 38
3-178916725-CG-GA c.112_113delinsGA p.R38D Missense 2/21 - 2
3-178916725-CG-TT c.112_113delinsTT p.R38F Missense 2/21 - 1
3-178916725-CGT-AAG c.112_114delinsAAG p.R38K Missense 2/21 - 1
3-178916725-CGT-TGA c.112_114delinsTGA p.R38* Nonsense 2/21 - 1
3-178916726-G-A c.113G>A p.R38H Missense 2/21 - 39
3-178916728-G-A c.115G>A p.E39K Missense 2/21 - 13
3-178916728-GAG-TTT c.115_117delinsTTT p.E39F Missense 2/21 - 1
3-178916728-GAG-TGT c.115_117delinsTGT p.E39C Missense 2/21 - 1
3-178916731-GC-TG c.118_119delinsTG p.A40C Missense 2/21 - 4
3-178916731-GC-AA c.118_119delinsAA p.A40N Missense 2/21 - 1
3-178916731-GCT-AAG c.118_120delinsAAG p.A40K Missense 2/21 - 1
3-178916731-G-T c.118G>T p.A40S Missense 2/21 - 1
3-178916731-G-A c.118G>A p.A40T Missense 2/21 - 2
3-178916731-GC-CT c.118_119delinsCT p.A40L Missense 2/21 - 1
3-178916731-G-C c.118G>C p.A40P Missense 2/21 - 1
3-178916731-GC-CG c.118_119delinsCG p.A40R Missense 2/21 - 1
3-178916731-GCT-ATG c.118_120delinsATG p.A40M Missense 2/21 - 1
3-178916731-GC-TT c.118_119delinsTT p.A40F Missense 2/21 - 1
3-178916732-CT-AG c.119_120inv p.A40E Missense 2/21 - 5
3-178916732-C-A c.119C>A p.A40D Missense 2/21 - 3
3-178916733-T-A c.120T>A p.A40= Synonymous 2/21 - 3
3-178916733-T-C c.120T>C p.A40= Synonymous 2/21 - 3
3-178916733-T-G c.120T>G p.A40= Synonymous 2/21 - 3
3-178916734-A-G c.121A>G p.T41A Missense 2/21 - 5
3-178916734-A-T c.121A>T p.T41S Missense 2/21 - 1
3-178916735-C-T c.122C>T p.T41I Missense 2/21 - 1
3-178916735-CA-AC c.122_123delinsAC p.T41N Missense 2/21 - 1
3-178916737-TT-AG c.124_125delinsAG p.L42R Missense 2/21 - 1
3-178916740-A-G c.127A>G p.I43V Missense 2/21 - 1
3-178916743-A-G c.130A>G p.T44A Missense 2/21 - 2
3-178916743-AC-GA c.130_131delinsGA p.T44D Missense 2/21 - 1
3-178916744-C-A c.131C>A p.T44N Missense 2/21 - 2
3-178916744-C-T c.131C>T p.T44I Missense 2/21 - 1
3-178916749-AA-CT c.136_137delinsCT p.K46L Missense 2/21 - 1
3-178916749-A-C c.136A>C p.K46Q Missense 2/21 - 1
3-178916750-A-G c.137A>G p.K46R Missense 2/21 - 3
3-178916752-C-T c.139C>T p.H47Y Missense 2/21 - 1
3-178916753-A-G c.140A>G p.H47R Missense 2/21 - 3
3-178916755-TGAA-T c.142_144del p.E48del InFrameDeletion 2/21 - 1
3-178916757-A-G c.144A>G p.E48= Synonymous 2/21 - 2
3-178916758-C-A c.145C>A p.L49I Missense 2/21 - 3
3-178916759-T-C c.146T>C p.L49P Missense 2/21 - 1
3-178916763-T-A c.150T>A p.F50L Missense 2/21 - 2
3-178916763-T-G c.150T>G p.F50L Missense 2/21 - 2
3-178916761-T-C c.148T>C p.F50L Missense 2/21 - 2
3-178916761-T-A c.148T>A p.F50I Missense 2/21 - 1
3-178916764-AA-GC c.151_152delinsGC p.K51A Missense 2/21 - 1
3-178916765-A-G c.152A>G p.K51R Missense 2/21 - 1
3-178916766-A-C c.153A>C p.K51N Missense 2/21 - 1
3-178916766-A-T c.153A>T p.K51N Missense 2/21 - 1
3-178916767-GAA-TGT c.154_156delinsTGT p.E52C Missense 2/21 - 1
3-178916767-G-A c.154G>A p.E52K Missense 2/21 - 1
3-178916769-A-C c.156A>C p.E52D Missense 2/21 - 4
3-178916769-A-T c.156A>T p.E52D Missense 2/21 - 4
3-178916769-A-G c.156A>G p.E52= Synonymous 2/21 - 1
3-178916770-G-A c.157G>A p.A53T Missense 2/21 - 74
3-178916770-GCA-TTT c.157_159delinsTTT p.A53F Missense 2/21 - 3
3-178916770-GCA-TGT c.157_159delinsTGT p.A53C Missense 2/21 - 3
3-178916771-CA-AC c.158_159delinsAC p.A53D Missense 2/21 - 3
3-178916771-C-A c.158C>A p.A53E Missense 2/21 - 3
3-178916772-A-C c.159A>C p.A53= Synonymous 2/21 - 2
3-178916772-A-G c.159A>G p.A53= Synonymous 2/21 - 2
3-178916772-A-T c.159A>T p.A53= Synonymous 2/21 - 2
3-178916773-AG-GC c.160_161delinsGC p.R54A Missense 2/21 - 1
3-178916774-G-A c.161G>A p.R54K Missense 2/21 - 3
3-178916776-A-C c.163A>C p.K55Q Missense 2/21 - 1
3-178916778-A-AC c.165_166insC p.Y56Lfs*10 Frameshift 2/21 - 1
3-178916780-A-T c.167A>T p.Y56F Missense 2/21 - 1
3-178916780-A-C c.167A>C p.Y56S Missense 2/21 - 1
3-178916781-C-A c.168C>A p.Y56* Nonsense 2/21 - 1
3-178916781-C-G c.168C>G p.Y56* Nonsense 2/21 - 1
3-178916782-C-T c.169C>T p.P57S Missense 2/21 - 3
3-178916785-CT-AG c.172_173inv p.L58S Missense 2/21 - 1
3-178916785-C-T c.172C>T p.L58F Missense 2/21 - 1
3-178916787-C-A c.174C>A p.L58= Synonymous 2/21 - 1
3-178916789-A-C c.176A>C p.H59P Missense 2/21 - 1
3-178916791-C-A c.178C>A p.Q60K Missense 2/21 - 7
3-178916792-A-T c.179A>T p.Q60L Missense 2/21 - 1
3-178916793-A-T c.180A>T p.Q60H Missense 2/21 - 3
3-178916793-A-C c.180A>C p.Q60H Missense 2/21 - 3
3-178916794-C-A c.181C>A p.L61I Missense 2/21 - 1
3-178916796-T-A c.183T>A p.L61= Synonymous 2/21 - 1
3-178916797-CT-GC c.184_185delinsGC p.L62A Missense 2/21 - 1
3-178916800-C-G c.187C>G p.Q63E Missense 2/21 - 3
3-178916801-A-T c.188A>T p.Q63L Missense 2/21 - 26
3-178916801-A-G c.188A>G p.Q63R Missense 2/21 - 2
3-178916802-A-T c.189A>T p.Q63H Missense 2/21 - 1
3-178916802-A-C c.189A>C p.Q63H Missense 2/21 - 1
3-178916806-G-A c.193G>A p.E65K Missense 2/21 - 2
3-178916806-GAA-TGT c.193_195delinsTGT p.E65C Missense 2/21 - 1
3-178916807-A-C c.194A>C p.E65A Missense 2/21 - 2
3-178916808-A-C c.195A>C p.E65D Missense 2/21 - 1
3-178916808-A-T c.195A>T p.E65D Missense 2/21 - 1
3-178916809-T-A c.196T>A p.S66T Missense 2/21 - 1
3-178916809-T-G c.196T>G p.S66A Missense 2/21 - 1
3-178916810-C-G c.197C>G p.S66C Missense 2/21 - 1
3-178916814-T-C c.201T>C p.S67= Synonymous 2/21 - 1
3-178916815-T-G c.202T>G p.Y68D Missense 2/21 - 1
3-178916815-T-C c.202T>C p.Y68H Missense 2/21 - 1
3-178916816-A-G c.203A>G p.Y68C Missense 2/21 - 1
3-178916818-A-G c.205A>G p.I69V Missense 2/21 - 1
3-178916819-T-C c.206T>C p.I69T Missense 2/21 - 1
3-178916819-T-G c.206T>G p.I69S Missense 2/21 - 1
3-178916819-T-A c.206T>A p.I69N Missense 2/21 - 1
3-178916820-T-TGC c.207_208insGC p.F70Afs*3 Frameshift 2/21 - 1
3-178916821-T-C c.208T>C p.F70L Missense 2/21 - 1
3-178916823-C-A c.210C>A p.F70L Missense 2/21 - 1
3-178916823-C-G c.210C>G p.F70L Missense 2/21 - 1
3-178916821-TT-GC c.208_209delinsGC p.F70A Missense 2/21 - 1
3-178916824-G-A c.211G>A p.V71I Missense 2/21 - 5
3-178916827-AG-GC c.214_215delinsGC p.S72A Missense 2/21 - 7
3-178916827-AG-GA c.214_215delinsGA p.S72D Missense 2/21 - 2
3-178916827-AG-CA c.214_215delinsCA p.S72H Missense 2/21 - 1
3-178916827-A-G c.214A>G p.S72G Missense 2/21 - 1
3-178916827-AGT-GAG c.214_216delinsGAG p.S72E Missense 2/21 - 2
3-178916828-GT-AG c.215_216delinsAG p.S72K Missense 2/21 - 1
3-178916828-G-C c.215G>C p.S72T Missense 2/21 - 1
3-178916829-T-C c.216T>C p.S72= Synonymous 2/21 - 1
3-178916831-T-C c.218T>C p.V73A Missense 2/21 - 1
3-178916832-T-C c.219T>C p.V73= Synonymous 2/21 - 1
3-178916833-AC-GA c.220_221delinsGA p.T74D Missense 2/21 - 4
3-178916836-C-G c.223C>G p.Q75E Missense 2/21 - 10
3-178916836-CA-TC c.223_224delinsTC p.Q75S Missense 2/21 - 1
3-178916836-C-A c.223C>A p.Q75K Missense 2/21 - 1
3-178916836-C-T c.223C>T p.Q75* Nonsense 2/21 - 1
3-178916837-A-T c.224A>T p.Q75L Missense 2/21 - 4
3-178916838-A-G c.225A>G p.Q75= Synonymous 2/21 - 1
3-178916836-CA-C c.225del p.E76Kfs*24 Frameshift 2/21 - 1
3-178916838-A-T c.225A>T p.Q75H Missense 2/21 - 1
3-178916838-A-C c.225A>C p.Q75H Missense 2/21 - 1
3-178916839-G-A c.226G>A p.E76K Missense 2/21 - 8
3-178916841-A-G c.228A>G p.E76= Synonymous 2/21 - 1
3-178916841-A-C c.228A>C p.E76D Missense 2/21 - 2
3-178916841-A-T c.228A>T p.E76D Missense 2/21 - 2
3-178916842-GCA-TGT c.229_231delinsTGT p.A77C Missense 2/21 - 2
3-178916842-GC-TA c.229_230delinsTA p.A77* Nonsense 2/21 - 2
3-178916842-GCA-TTT c.229_231delinsTTT p.A77F Missense 2/21 - 1
3-178916842-GCA-TGG c.229_231delinsTGG p.A77W Missense 2/21 - 1
3-178916842-G-A c.229G>A p.A77T Missense 2/21 - 1
3-178916843-C-A c.230C>A p.A77E Missense 2/21 - 2
3-178916843-CA-AC c.230_231delinsAC p.A77D Missense 2/21 - 1
3-178916844-A-C c.231A>C p.A77= Synonymous 2/21 - 5
3-178916844-A-G c.231A>G p.A77= Synonymous 2/21 - 5
3-178916844-A-T c.231A>T p.A77= Synonymous 2/21 - 5
3-178916845-GAA-TTT c.232_234delinsTTT p.E78F Missense 2/21 - 2
3-178916845-G-A c.232G>A p.E78K Missense 2/21 - 4
3-178916847-A-C c.234A>C p.E78D Missense 2/21 - 1
3-178916847-A-T c.234A>T p.E78D Missense 2/21 - 1
3-178916847-A-G c.234A>G p.E78= Synonymous 2/21 - 1
3-178916848-AGG-GAC c.235_237delinsGAC p.R79D Missense 2/21 - 1
3-178916848-AG-GC c.235_236delinsGC p.R79A Missense 2/21 - 2
3-178916849-G-T c.236G>T p.R79M Missense 2/21 - 1
3-178916851-GA-TC c.238_239inv p.E80S Missense 2/21 - 1
3-178916851-GA-AT c.238_239delinsAT p.E80I Missense 2/21 - 6
3-178916851-GA-AG c.238_239delinsAG p.E80R Missense 2/21 - 1
3-178916851-G-A c.238G>A p.E80K Missense 2/21 - 5
3-178916852-A-G c.239A>G p.E80G Missense 2/21 - 1
3-178916852-A-C c.239A>C p.E80A Missense 2/21 - 1
3-178916853-A-G c.240A>G p.E80= Synonymous 2/21 - 1
3-178916853-A-C c.240A>C p.E80D Missense 2/21 - 1
3-178916854-G-A c.241G>A p.E81K Missense 2/21 - 72
3-178916854-GAA-TTT c.241_243delinsTTT p.E81F Missense 2/21 - 1
3-178916854-GA-CT c.241_242delinsCT p.E81L Missense 2/21 - 1
3-178916855-A-G c.242A>G p.E81G Missense 2/21 - 3
3-178916855-A-C c.242A>C p.E81A Missense 2/21 - 1
3-178916856-A-C c.243A>C p.E81D Missense 2/21 - 2
3-178916856-A-T c.243A>T p.E81D Missense 2/21 - 2
3-178916857-TT-GC c.244_245delinsGC p.F82A Missense 2/21 - 1
3-178916858-T-G c.245T>G p.F82C Missense 2/21 - 1
3-178916860-T-C c.247T>C p.F83L Missense 2/21 - 1
3-178916862-T-A c.249T>A p.F83L Missense 2/21 - 1
3-178916862-T-G c.249T>G p.F83L Missense 2/21 - 1
3-178916861-T-C c.248T>C p.F83S Missense 2/21 - 5
3-178916861-T-G c.248T>G p.F83C Missense 2/21 - 3
3-178916862-T-C c.249T>C p.F83= Synonymous 2/21 - 2
3-178916863-G-A c.250G>A p.D84N Missense 2/21 - 1
3-178916863-GA-TG c.250_251delinsTG p.D84C Missense 2/21 - 1
3-178916863-GAT-TAA c.250_252delinsTAA p.D84* Nonsense 2/21 - 1
3-178916863-G-T c.250G>T p.D84Y Missense 2/21 - 1
3-178916864-A-G c.251A>G p.D84G Missense 2/21 - 2
3-178916866-G-A c.253G>A p.E85K Missense 2/21 - 3
3-178916869-A-G c.256A>G p.T86A Missense 2/21 - 2
3-178916869-AC-GA c.256_257delinsGA p.T86E Missense 2/21 - 1
3-178916870-C-T c.257C>T p.T86I Missense 2/21 - 1
3-178916874-A-G c.261A>G p.R87= Synonymous 2/21 - 1
3-178916874-A-C c.261A>C p.R87S Missense 2/21 - 1
3-178916874-A-T c.261A>T p.R87S Missense 2/21 - 1
3-178916875-C-T c.262C>T p.R88* Nonsense 2/21 - 2
3-178916875-C-G c.262C>G p.R88G Missense 2/21 - 1
3-178916875-CGA-GAC c.262_264delinsGAC p.R88D Missense 2/21 - 1
3-178916875-CG-AA c.262_263delinsAA p.R88K Missense 2/21 - 1
3-178916876-G-A c.263G>A p.R88Q Missense 2/21 - 247
3-178916876-G-T c.263G>T p.R88L Missense 2/21 - 3
3-178916876-CG-C c.263del p.R88Hfs*12 Frameshift 2/21 - 1
3-178916878-C-A c.265C>A p.L89I Missense 2/21 - 1
3-178916879-TT-AA c.266_267inv p.L89Q Missense 2/21 - 2
3-178916879-T-G c.266T>G p.L89R Missense 2/21 - 1
3-178916881-T-C c.268T>C p.C90R Missense 2/21 - 2
3-178916881-TG-GA c.268_269delinsGA p.C90D Missense 2/21 - 1
3-178916882-G-A c.269G>A p.C90Y Missense 2/21 - 1
3-178916883-T-C c.270T>C p.C90= Synonymous 2/21 - 1
3-178916890-C-T c.277C>T p.R93W Missense 2/21 - 41
3-178916890-C-G c.277C>G p.R93G Missense 2/21 - 1
3-178916891-G-A c.278G>A p.R93Q Missense 2/21 - 41
3-178916891-G-T c.278G>T p.R93L Missense 2/21 - 1
3-178916891-G-C c.278G>C p.R93P Missense 2/21 - 1
3-178916893-C-G c.280C>G p.L94V Missense 2/21 - 1
3-178916894-T-C c.281T>C p.L94P Missense 2/21 - 1
3-178916896-TT-GC c.283_284delinsGC p.F95A Missense 2/21 - 2
3-178916896-TTT-GAG c.283_285delinsGAG p.F95E Missense 2/21 - 1
3-178916897-T-G c.284T>G p.F95C Missense 2/21 - 1
3-178916899-C-T c.286C>T p.Q96* Nonsense 2/21 - 1
3-178916900-A-T c.287A>T p.Q96L Missense 2/21 - 1
3-178916899-C-CAATA c.288_289insTAAA p.P97* Nonsense 2/21 - 1
3-178916902-CCC-GAG c.289_291delinsGAG p.P97E Missense 2/21 - 1
3-178916902-C-T c.289C>T p.P97S Missense 2/21 - 1
3-178916905-TT-GA c.292_293delinsGA p.F98D Missense 2/21 - 3
3-178916905-CTTTTTAA-C c.292_298del p.F98Kfs*2 Frameshift 2/21 - 1
3-178916906-T-G c.293T>G p.F98C Missense 2/21 - 2
3-178916906-T-C c.293T>C p.F98S Missense 2/21 - 1
3-178916907-T-C c.294T>C p.F98= Synonymous 2/21 - 1
3-178916908-TT-GC c.295_296delinsGC p.L99A Missense 2/21 - 2
3-178916909-T-A c.296T>A p.L99* Nonsense 2/21 - 1
3-178916909-T-G c.296T>G p.L99* Nonsense 2/21 - 1
3-178916911-A-T c.298A>T p.K100* Nonsense 2/21 - 2
3-178916911-A-C c.298A>C p.K100Q Missense 2/21 - 2
3-178916912-A-G c.299A>G p.K100R Missense 2/21 - 8
3-178916914-G-C c.301G>C p.V101L Missense 2/21 - 1
3-178916914-G-T c.301G>T p.V101L Missense 2/21 - 1
3-178916914-GTA-TGT c.301_303delinsTGT p.V101C Missense 2/21 - 1
3-178916915-T-C c.302T>C p.V101A Missense 2/21 - 1
3-178916914-GTAA-G c.303_305del p.I102del InFrameDeletion 2/21 - 1
3-178916917-A-T c.304A>T p.I102F Missense 2/21 - 1
3-178916917-AATT-A c.304_306del p.I102del InFrameDeletion 2/21 - 1
3-178916912-AAGTAATTGAACC-A c.304_315del p.I102_V105del InFrameDeletion 2/21 - 1
3-178916918-T-C c.305T>C p.I102T Missense 2/21 - 1
3-178916918-ATTG-A c.305_307del p.I102_E103delinsK MultiAAMissense 2/21 - 2
3-178916920-G-A c.307G>A p.E103K Missense 2/21 - 1
3-178916921-A-G c.308A>G p.E103G Missense 2/21 - 2
3-178916919-TGAACCAGTA-T c.308_316del p.E103_V105del InFrameDeletion 2/21 - 2
3-178916919-TGAACCA-T c.308_313del p.E103_P104del InFrameDeletion 2/21 - 1
3-178916922-AACCAGTAGG-A c.309_317del p.E103_G106delinsD MultiAAMissense 2/21 - 1
3-178916923-CC-AT c.310_311delinsAT p.P104I Missense 2/21 - 1
3-178916923-C-T c.310C>T p.P104S Missense 2/21 - 2
3-178916923-C-A c.310C>A p.P104T Missense 2/21 - 2
3-178916921-AACC-A c.310_312del p.P104del InFrameDeletion 2/21 - 1
3-178916921-AACCAGT-A c.310_315del p.P104_V105del InFrameDeletion 2/21 - 2
3-178916923-ACCAGTAGGC-A c.310_318del p.P104_G106del InFrameDeletion 2/21 - 1
3-178916924-C-T c.311C>T p.P104L Missense 2/21 - 22
3-178916924-C-G c.311C>G p.P104R Missense 2/21 - 5
3-178916924-C-A c.311C>A p.P104Q Missense 2/21 - 1
3-178916924-CCAGTAG-C c.311_316del p.P104_G106delinsR MultiAAMissense 2/21 - 2
3-178916925-CAGTAGGCAACCG-C c.312_323del p.V105_R108del InFrameDeletion 2/21 - 1
3-178916926-GTA-TGT c.313_315delinsTGT p.V105C Missense 2/21 - 10
3-178916926-G-A c.313G>A p.V105I Missense 2/21 - 2
3-178916927-T-C c.314T>C p.V105A Missense 2/21 - 1
3-178916924-CAGT-C c.314_316del p.V105del InFrameDeletion 2/21 - 3
3-178916925-AGTAGGCAACCGT-A c.314_325del p.V105_R108del InFrameDeletion 2/21 - 2
3-178916928-A-G c.315A>G p.V105= Synonymous 2/21 - 2
3-178916928-A-C c.315A>C p.V105= Synonymous 2/21 - 1
3-178916928-A-T c.315A>T p.V105= Synonymous 2/21 - 1
3-178916928-TAGGCAA-T c.315_320del p.G106_N107del InFrameDeletion 2/21 - 1
3-178916929-G-C c.316G>C p.G106R Missense 2/21 - 15
3-178916929-G-T c.316G>T p.G106C Missense 2/21 - 2
3-178916929-AGGCAAC-A c.316_321del p.G106_N107del InFrameDeletion 2/21 - 3
3-178916929-G-A c.316G>A p.G106S Missense 2/21 - 5
3-178916929-AGGC-A c.316_318del p.G106del InFrameDeletion 2/21 - 1
3-178916930-G-T c.317G>T p.G106V Missense 2/21 - 43
3-178916927-TAGGCAACCGTGA-T c.317_328del p.G106_E109del InFrameDeletion 2/21 - 2
3-178916928-AGGCAACCGT-A c.317_325del p.G106_R108del InFrameDeletion 2/21 - 3
3-178916930-G-A c.317G>A p.G106D Missense 2/21 - 3
3-178916930-G-C c.317G>C p.G106A Missense 2/21 - 1
3-178916930-GC-AG c.317_318delinsAG p.G106E Missense 2/21 - 1
3-178916931-GCAACCGTGAAGA-G c.318_329del p.N107_E110del InFrameDeletion 2/21 - 1
3-178916931-C-T c.318C>T p.G106= Synonymous 2/21 - 1
3-178916931-C-G c.318C>G p.G106= Synonymous 2/21 - 1
3-178916931-C-A c.318C>A p.G106= Synonymous 2/21 - 1
3-178916932-A-T c.319A>T p.N107Y Missense 2/21 - 1
3-178916932-AA-TG c.319_320delinsTG p.N107C Missense 2/21 - 6
3-178916932-A-C c.319A>C p.N107H Missense 2/21 - 1
3-178916930-GCAA-G c.319_321del p.N107del InFrameDeletion 2/21 - 3
3-178916933-A-G c.320A>G p.N107S Missense 2/21 - 4
3-178916933-A-C c.320A>C p.N107T Missense 2/21 - 1
3-178916931-CA-C c.320del p.N107Tfs*38 Frameshift 2/21 - 2
3-178916931-CAACCGTGAAGAA-C c.321_332del p.N107_E110del InFrameDeletion 2/21 - 1
3-178916935-CCGT-C c.322_324del p.R108del InFrameDeletion 2/21 - 9
3-178916935-C-T c.322C>T p.R108C Missense 2/21 - 6
3-178916935-C-A c.322C>A p.R108S Missense 2/21 - 1
3-178916935-CG-TA c.322_323delinsTA p.R108Y Missense 2/21 - 1
3-178916935-CGT-AAG c.322_324delinsAAG p.R108K Missense 2/21 - 3
3-178916936-G-A c.323G>A p.R108H Missense 2/21 - 58
3-178916936-G-T c.323G>T p.R108L Missense 2/21 - 3
3-178916936-CGTGAAGAAAAGA-C c.323_334del p.R108_I112delinsL MultiAAMissense 2/21 - 1
3-178916936-G-GT c.324dup p.E109* Nonsense 2/21 - 2
3-178916939-A-G c.326A>G p.E109G Missense 2/21 - 1
3-178916940-A-C c.327A>C p.E109D Missense 2/21 - 1
3-178916940-A-G c.327A>G p.E109= Synonymous 2/21 - 1
3-178916940-AAGAAAAGAT-A c.327_335del p.E109_I112delinsD MultiAAMissense 2/21 - 1
3-178916937-TGAA-T c.328_330del p.E110del InFrameDeletion 2/21 - 42
3-178916941-G-A c.328G>A p.E110K Missense 2/21 - 18
3-178916943-A-C c.330A>C p.E110D Missense 2/21 - 1
3-178916943-A-T c.330A>T p.E110D Missense 2/21 - 1
3-178916944-A-G c.331A>G p.K111E Missense 2/21 - 75
3-178916944-AAG-TTT c.331_333delinsTTT p.K111F Missense 2/21 - 2
3-178916944-A-C c.331A>C p.K111Q Missense 2/21 - 2
3-178916941-GAA-G c.331_332del p.K111Dfs*16 Frameshift 2/21 - 1
3-178916944-AAAGATC-A c.331_336del p.K111_I112del InFrameDeletion 2/21 - 1
3-178916945-A-G c.332A>G p.K111R Missense 2/21 - 7
3-178916943-AAAG-A c.332_334del p.K111del InFrameDeletion 2/21 - 10
3-178916945-A-C c.332A>C p.K111T Missense 2/21 - 1
3-178916946-G-C c.333G>C p.K111N Missense 2/21 - 42
3-178916946-G-T c.333G>T p.K111N Missense 2/21 - 76
3-178916943-AAAGATCCTC-A c.333_341del p.K111_L113del InFrameDeletion 2/21 - 1
3-178916946-AGAT-A c.333_335del p.K111_I112delinsN MultiAAMissense 2/21 - 1
3-178916946-AGATCCT-A c.333_338del p.K111_L113delinsN MultiAAMissense 2/21 - 1
3-178916947-GATC-G c.334_336del p.I112del InFrameDeletion 2/21 - 1
3-178916947-A-G c.334A>G p.I112V Missense 2/21 - 1
3-178916947-A-T c.334A>T p.I112F Missense 2/21 - 1
3-178916948-T-A c.335T>A p.I112N Missense 2/21 - 4
3-178916946-GATCCTC-G c.335_340del p.I112_L113del InFrameDeletion 2/21 - 1
3-178916949-C-A c.336C>A p.I112= Synonymous 2/21 - 1
3-178916949-C-T c.336C>T p.I112= Synonymous 2/21 - 1
3-178916947-ATCCTCAATCGAGAAAT-A c.336_351del p.I112Mfs*28 SpliceDonorDeletion 2/21 - 1
3-178916947-ATCC-A c.337_339del p.L113del InFrameDeletion 2/21 - 5
3-178916950-C-T c.337C>T p.L113F Missense 2/21 - 3
3-178916949-CCTCAAT-C c.338_343del p.L113_N114del InFrameDeletion 2/21 - 1
3-178916952-C-G c.339C>G p.L113= Synonymous 2/21 - 1
3-178916953-CAAT-C c.340_342del p.N114del InFrameDeletion 2/21 - 1
3-178916956-C-T c.343C>T p.R115* Nonsense 2/21 - 2
3-178916957-G-C c.344G>C p.R115P Missense 2/21 - 10
3-178916957-G-T c.344G>T p.R115L Missense 2/21 - 12
3-178916957-G-A c.344G>A p.R115Q Missense 2/21 - 2
3-178916959-G-C c.346G>C p.E116Q Missense 2/21 - 1
3-178916959-G-A c.346G>A p.E116K Missense 2/21 - 2
3-178916960-A-G c.347A>G p.E116G Missense 2/21 - 1
3-178916960-A-C c.347A>C p.E116A Missense 2/21 - 1
3-178916963-T-A c.350T>A p.I117N Missense 2/21 - 1
3-178916965-G-A c.352G>A p.G118S Missense 2/21 - 1
3-178917005-A-G c.352+40A>G - IntronicSNV - 2/20 9
3-178917478-G-A c.353G>A p.G118D Missense 3/21 - 91
3-178917478-G-C c.353G>C p.G118A Missense 3/21 - 1
3-178917479-T-G c.354T>G p.G118= Synonymous 3/21 - 1
3-178917479-T-A c.354T>A p.G118= Synonymous 3/21 - 1
3-178917479-T-C c.354T>C p.G118= Synonymous 3/21 - 1
3-178917483-G-A c.358G>A p.A120T Missense 3/21 - 1
3-178917489-G-A c.364G>A p.G122S Missense 3/21 - 1
3-178917490-G-A c.365G>A p.G122D Missense 3/21 - 2
3-178917495-C-T c.370C>T p.P124S Missense 3/21 - 1
3-178917495-C-A c.370C>A p.P124T Missense 3/21 - 2
3-178917495-C-G c.370C>G p.P124A Missense 3/21 - 1
3-178917496-C-T c.371C>T p.P124L Missense 3/21 - 11
3-178917499-T-C c.374T>C p.V125A Missense 3/21 - 6
3-178917501-T-G c.376T>G p.C126G Missense 3/21 - 1
3-178917504-G-A c.379G>A p.E127K Missense 3/21 - 1
3-178917506-AT-A c.384del p.F128Lfs*17 Frameshift 3/21 - 1
3-178917510-G-A c.385G>A p.D129N Missense 3/21 - 1
3-178917510-GAT-AAG c.385_387delinsAAG p.D129K Missense 3/21 - 2
3-178917511-A-C c.386A>C p.D129A Missense 3/21 - 1
3-178917513-TA-T c.388del p.M130Wfs*15 Frameshift 3/21 - 1
3-178917513-A-C c.388A>C p.M130L Missense 3/21 - 1
3-178917513-A-T c.388A>T p.M130L Missense 3/21 - 1
3-178917516-G-A c.391G>A p.V131I Missense 3/21 - 1
3-178917519-A-C c.394A>C p.K132Q Missense 3/21 - 2
3-178917519-A-G c.394A>G p.K132E Missense 3/21 - 1
3-178917520-A-G c.395A>G p.K132R Missense 3/21 - 2
3-178917523-A-C c.398A>C p.D133A Missense 3/21 - 1
3-178917524-T-G c.399T>G p.D133E Missense 3/21 - 1
3-178917524-T-A c.399T>A p.D133E Missense 3/21 - 1
3-178917524-T-C c.399T>C p.D133= Synonymous 3/21 - 1
3-178917525-C-T c.400C>T p.P134S Missense 3/21 - 1
3-178917526-C-T c.401C>T p.P134L Missense 3/21 - 1
3-178917528-G-A c.403G>A p.E135K Missense 3/21 - 2
3-178917531-G-C c.406G>C p.V136L Missense 3/21 - 1
3-178917531-G-T c.406G>T p.V136L Missense 3/21 - 1
3-178917534-C-T c.409C>T p.Q137* Nonsense 3/21 - 1
3-178917535-A-T c.410A>T p.Q137L Missense 3/21 - 1
3-178917537-G-T c.412G>T p.D138Y Missense 3/21 - 1
3-178917538-A-C c.413A>C p.D138A Missense 3/21 - 1
3-178917543-CGA-ATG c.418_420delinsATG p.R140M Missense 3/21 - 3
3-178917543-CG-GC c.418_419delinsGC p.R140A Missense 3/21 - 1
3-178917543-C-T c.418C>T p.R140* Nonsense 3/21 - 2
3-178917544-G-A c.419G>A p.R140Q Missense 3/21 - 9
3-178917546-AGA-TGG c.421_423delinsTGG p.R141W Missense 3/21 - 5
3-178917546-AGA-CAT c.421_423delinsCAT p.R141H Missense 3/21 - 7
3-178917546-AGA-TGT c.421_423delinsTGT p.R141C Missense 3/21 - 5
3-178917546-AG-CT c.421_422inv p.R141L Missense 3/21 - 3
3-178917546-A-G c.421A>G p.R141G Missense 3/21 - 1
3-178917546-AG-CC c.421_422delinsCC p.R141P Missense 3/21 - 1
3-178917552-A-G c.427A>G p.I143V Missense 3/21 - 1
3-178917553-T-C c.428T>C p.I143T Missense 3/21 - 1
3-178917555-CTG-TTT c.430_432delinsTTT p.L144F Missense 3/21 - 1
3-178917559-A-G c.434A>G p.N145S Missense 3/21 - 1
3-178917560-C-G c.435C>G p.N145K Missense 3/21 - 1
3-178917560-C-A c.435C>A p.N145K Missense 3/21 - 1
3-178917561-G-A c.436G>A p.V146I Missense 3/21 - 8
3-178917564-TG-CT c.439_440delinsCT p.C147L Missense 3/21 - 1
3-178917564-TG-GC c.439_440delinsGC p.C147A Missense 3/21 - 2
3-178917564-T-A c.439T>A p.C147S Missense 3/21 - 2
3-178917565-G-C c.440G>C p.C147S Missense 3/21 - 2
3-178917564-T-C c.439T>C p.C147R Missense 3/21 - 1
3-178917565-G-A c.440G>A p.C147Y Missense 3/21 - 1
3-178917567-A-T c.442A>T p.K148* Nonsense 3/21 - 1
3-178917567-AA-GC c.442_443delinsGC p.K148A Missense 3/21 - 1
3-178917568-A-C c.443A>C p.K148T Missense 3/21 - 1
3-178917568-A-G c.443A>G p.K148R Missense 3/21 - 3
3-178917569-A-C c.444A>C p.K148N Missense 3/21 - 1
3-178917569-A-T c.444A>T p.K148N Missense 3/21 - 1
3-178917571-A-C c.446A>C p.E149A Missense 3/21 - 1
3-178917573-G-A c.448G>A p.A150T Missense 3/21 - 2
3-178917574-C-T c.449C>T p.A150V Missense 3/21 - 1
3-178917576-G-A c.451G>A p.V151M Missense 3/21 - 2
3-178917579-GA-TG c.454_455delinsTG p.D152C Missense 3/21 - 1
3-178917581-T-G c.456T>G p.D152E Missense 3/21 - 1
3-178917582-C-T c.457C>T p.L153F Missense 3/21 - 2
3-178917582-CT-AG c.457_458inv p.L153S Missense 3/21 - 1
3-178917583-T-A c.458T>A p.L153H Missense 3/21 - 1
3-178917585-AG-GC c.460_461delinsGC p.R154A Missense 3/21 - 1
3-178917585-AGG-CAT c.460_462delinsCAT p.R154H Missense 3/21 - 1
3-178917588-G-A c.463G>A p.D155N Missense 3/21 - 1
3-178917591-CT-GC c.466_467delinsGC p.L156A Missense 3/21 - 1
3-178917594-AA-GC c.469_470delinsGC p.N157A Missense 3/21 - 2
3-178917594-AA-TG c.469_470delinsTG p.N157C Missense 3/21 - 1
3-178917597-T-G c.472T>G p.S158A Missense 3/21 - 1
3-178917597-T-A c.472T>A p.S158T Missense 3/21 - 1
3-178917598-C-T c.473C>T p.S158L Missense 3/21 - 1
3-178917603-CA-GC c.478_479delinsGC p.H160A Missense 3/21 - 1
3-178917605-T-A c.480T>A p.H160Q Missense 3/21 - 1
3-178917605-T-G c.480T>G p.H160Q Missense 3/21 - 1
3-178917606-AGT-TGG c.481_483delinsTGG p.S161W Missense 3/21 - 1
3-178917606-AG-TT c.481_482delinsTT p.S161F Missense 3/21 - 1
3-178917606-AG-GC c.481_482delinsGC p.S161A Missense 3/21 - 1
3-178917609-AGA-CAT c.484_486delinsCAT p.R162H Missense 3/21 - 1
3-178917609-A-T c.484A>T p.R162* Nonsense 3/21 - 1
3-178917613-C-T c.488C>T p.A163V Missense 3/21 - 1
3-178917613-C-A c.488C>A p.A163E Missense 3/21 - 1
3-178917617-G-C c.492G>C p.M164I Missense 3/21 - 1
3-178917617-G-A c.492G>A p.M164I Missense 3/21 - 1
3-178917617-G-T c.492G>T p.M164I Missense 3/21 - 1
3-178917619-A-G c.494A>G p.Y165C Missense 3/21 - 5
3-178917628-C-T c.503C>T p.P168L Missense 3/21 - 2
3-178917629-TC-T c.506del p.P169Qfs*3 Frameshift 3/21 - 1
3-178917631-C-A c.506C>A p.P169Q Missense 3/21 - 1
3-178917631-CA-AT c.506_507delinsAT p.P169H Missense 3/21 - 1
3-178917636-G-A c.511G>A p.V171I Missense 3/21 - 2
3-178917642-TC-AA c.517_518delinsAA p.S173N Missense 3/21 - 1
3-178917642-T-G c.517T>G p.S173A Missense 3/21 - 2
3-178917642-T-A c.517T>A p.S173T Missense 3/21 - 1
3-178917643-C-CT c.520dup p.S174Ffs*10 Frameshift 3/21 - 1
3-178917645-TC-AG c.520_521delinsAG p.S174R Missense 3/21 - 1
3-178917646-C-T c.521C>T p.S174L Missense 3/21 - 1
3-178917648-C-G c.523C>G p.P175A Missense 3/21 - 2
3-178917648-C-T c.523C>T p.P175S Missense 3/21 - 1
3-178917649-C-T c.524C>T p.P175L Missense 3/21 - 1
3-178917655-T-C c.530T>C p.L177S Missense 3/21 - 1
3-178917657-C-G c.532C>G p.P178A Missense 3/21 - 2
3-178917657-C-T c.532C>T p.P178S Missense 3/21 - 1
3-178917656-G-GC c.533dup p.H180Afs*4 Frameshift 3/21 - 1
3-178917658-C-T c.533C>T p.P178L Missense 3/21 - 1
3-178917660-AA-GC c.535_536delinsGC p.K179A Missense 3/21 - 42
3-178917660-AAG-GAC c.535_537delinsGAC p.K179D Missense 3/21 - 5
3-178917660-A-G c.535A>G p.K179E Missense 3/21 - 1
3-178917661-A-T c.536A>T p.K179M Missense 3/21 - 90
3-178917661-A-G c.536A>G p.K179R Missense 3/21 - 1
3-178917668-A-G c.543A>G p.I181M Missense 3/21 - 1
3-178917669-T-G c.544T>G p.Y182D Missense 3/21 - 1
3-178917670-TATAATAAA-T c.545_552del p.Y182Ffs*3 Frameshift 3/21 - 1
3-178917670-A-C c.545A>C p.Y182S Missense 3/21 - 1
3-178917670-A-T c.545A>T p.Y182F Missense 3/21 - 2
3-178917670-A-G c.545A>G p.Y182C Missense 3/21 - 1
3-178917673-A-G c.548A>G p.N183S Missense 3/21 - 1
3-178917674-T-G c.549T>G p.N183K Missense 3/21 - 1
3-178917674-T-A c.549T>A p.N183K Missense 3/21 - 1
3-178917677-A-G c.552A>G p.K184= Synonymous 3/21 - 1
3-178917681-G-A c.556G>A p.D186N Missense 3/21 - 1
3-178917681-G-T c.556G>T p.D186Y Missense 3/21 - 1
3-178917681-G-C c.556G>C p.D186H Missense 3/21 - 1
3-178917682-A-T c.557A>T p.D186V Missense 3/21 - 1
3-178917685-A-G c.560A>G p.K187R Missense 3/21 - 2
3-178917710-C-A c.562+23C>A - IntronicSNV - 3/20 1
3-178918588-G-A c.563-490G>A - IntronicSNV - 3/20 1
3-178919078-GG-AC c.563_564delinsAC p.G188D Missense 4/21 - 1
3-178919086-A-C c.571A>C p.I191L Missense 4/21 - 1
3-178919088-A-G c.573A>G p.I191M Missense 4/21 - 1
3-178919101-G-A c.586G>A p.V196I Missense 4/21 - 1
3-178919109-T-A c.594T>A p.V198= Synonymous 4/21 - 1
3-178919110-TCT-GAG c.595_597delinsGAG p.S199E Missense 4/21 - 1
3-178919110-T-G c.595T>G p.S199A Missense 4/21 - 1
3-178919113-C-T c.598C>T p.P200S Missense 4/21 - 1
3-178919115-A-T c.600A>T p.P200= Synonymous 4/21 - 2
3-178919115-A-G c.600A>G p.P200= Synonymous 4/21 - 2
3-178919115-A-C c.600A>C p.P200= Synonymous 4/21 - 2
3-178919117-A-AT c.603dup p.N202* Nonsense 4/21 - 1
3-178919119-A-G c.604A>G p.N202D Missense 4/21 - 1
3-178919123-A-C c.608A>C p.D203A Missense 4/21 - 1
3-178919125-A-G c.610A>G p.K204E Missense 4/21 - 2
3-178919125-AA-GC c.610_611delinsGC p.K204A Missense 4/21 - 1
3-178919128-C-G c.613C>G p.Q205E Missense 4/21 - 1
3-178919129-A-T c.614A>T p.Q205L Missense 4/21 - 7
3-178919132-AG-TC c.617_618delinsTC p.K206I Missense 4/21 - 1
3-178919135-A-T c.620A>T p.Y207F Missense 4/21 - 1
3-178919136-T-A c.621T>A p.Y207* Nonsense 4/21 - 1
3-178919136-T-G c.621T>G p.Y207* Nonsense 4/21 - 1
3-178919137-AC-GA c.622_623delinsGA p.T208D Missense 4/21 - 14
3-178919138-C-T c.623C>T p.T208I Missense 4/21 - 1
3-178919140-CT-GC c.625_626delinsGC p.L209A Missense 4/21 - 1
3-178919140-C-T c.625C>T p.L209= Synonymous 4/21 - 1
3-178919143-A-G c.628A>G p.K210E Missense 4/21 - 1
3-178919143-AA-GC c.628_629delinsGC p.K210A Missense 4/21 - 1
3-178919144-A-G c.629A>G p.K210R Missense 4/21 - 1
3-178919146-AT-GC c.631_632delinsGC p.I211A Missense 4/21 - 1
3-178919147-T-C c.632T>C p.I211T Missense 4/21 - 1
3-178919147-T-G c.632T>G p.I211S Missense 4/21 - 1
3-178919149-A-G c.634A>G p.N212D Missense 4/21 - 3
3-178919149-AAC-GAG c.634_636delinsGAG p.N212E Missense 4/21 - 3
3-178919152-C-T c.637C>T p.H213Y Missense 4/21 - 1
3-178919154-T-C c.639T>C p.H213= Synonymous 4/21 - 1
3-178919156-A-G c.641A>G p.D214G Missense 4/21 - 1
3-178919158-T-A c.643T>A p.C215S Missense 4/21 - 3
3-178919159-G-C c.644G>C p.C215S Missense 4/21 - 3
3-178919161-G-A c.646G>A p.V216I Missense 4/21 - 1
3-178919161-GTA-ATG c.646_648delinsATG p.V216M Missense 4/21 - 1
3-178919164-CC-AA c.649_650delinsAA p.P217K Missense 4/21 - 1
3-178919167-G-T c.652G>T p.E218* Nonsense 4/21 - 1
3-178919167-G-A c.652G>A p.E218K Missense 4/21 - 3
3-178919167-GA-AG c.652_653delinsAG p.E218R Missense 4/21 - 1
3-178919167-G-C c.652G>C p.E218Q Missense 4/21 - 1
3-178919168-A-C c.653A>C p.E218A Missense 4/21 - 1
3-178919170-C-T c.655C>T p.Q219* Nonsense 4/21 - 1
3-178919171-A-G c.656A>G p.Q219R Missense 4/21 - 1
3-178919177-T-C c.662T>C p.I221T Missense 4/21 - 1
3-178919180-C-T c.665C>T p.A222V Missense 4/21 - 1
3-178919182-G-T c.667G>T p.E223* Nonsense 4/21 - 1
3-178919184-A-C c.669A>C p.E223D Missense 4/21 - 1
3-178919185-GC-CT c.670_671delinsCT p.A224L Missense 4/21 - 1
3-178919186-C-T c.671C>T p.A224V Missense 4/21 - 1
3-178919189-T-A c.674T>A p.I225N Missense 4/21 - 1
3-178919191-AG-GC c.676_677delinsGC p.R226A Missense 4/21 - 2
3-178919192-G-A c.677G>A p.R226K Missense 4/21 - 1
3-178919191-AG-A c.678del p.T229Lfs*11 Frameshift 4/21 - 1
3-178919194-A-G c.679A>G p.K227E Missense 4/21 - 22
3-178919194-AA-GC c.679_680delinsGC p.K227A Missense 4/21 - 15
3-178919194-A-C c.679A>C p.K227Q Missense 4/21 - 2
3-178919197-A-G c.682A>G p.K228E Missense 4/21 - 1
3-178919200-A-G c.685A>G p.T229A Missense 4/21 - 4
3-178919193-G-GA c.685dup p.T229Nfs*9 Frameshift 4/21 - 1
3-178919201-C-T c.686C>T p.T229I Missense 4/21 - 1
3-178919203-CG-GA c.688_689delinsGA p.R230E Missense 4/21 - 1
3-178919203-C-G c.688C>G p.R230G Missense 4/21 - 1
3-178919204-G-A c.689G>A p.R230Q Missense 4/21 - 1
3-178919206-AG-GC c.691_692delinsGC p.S231A Missense 4/21 - 4
3-178919207-G-C c.692G>C p.S231T Missense 4/21 - 1
3-178919210-T-C c.695T>C p.M232T Missense 4/21 - 2
3-178919210-T-A c.695T>A p.M232K Missense 4/21 - 2
3-178919212-TT-AA c.697_698inv p.L233K Missense 4/21 - 2
3-178919215-CT-GC c.700_701delinsGC p.L234A Missense 4/21 - 5
3-178919215-CTA-TTT c.700_702delinsTTT p.L234F Missense 4/21 - 1
3-178919218-TC-GA c.703_704inv p.S235D Missense 4/21 - 1
3-178919218-T-G c.703T>G p.S235A Missense 4/21 - 3
3-178919221-T-C c.706T>C p.S236P Missense 4/21 - 1
3-178919221-T-G c.706T>G p.S236A Missense 4/21 - 1
3-178919222-C-G c.707C>G p.S236C Missense 4/21 - 1
3-178919229-A-AT c.714_715insT p.L239Sfs*20 Frameshift 4/21 - 1
3-178919230-C-G c.715C>G p.L239V Missense 4/21 - 1
3-178919230-C-A c.715C>A p.L239I Missense 4/21 - 1
3-178919231-T-A c.716T>A p.L239Q Missense 4/21 - 1
3-178919231-T-C c.716T>C p.L239P Missense 4/21 - 1
3-178919231-T-G c.716T>G p.L239R Missense 4/21 - 1
3-178919239-TG-AC c.724_725delinsAC p.C242T Missense 4/21 - 6
3-178919239-T-A c.724T>A p.C242S Missense 4/21 - 1
3-178919240-G-C c.725G>C p.C242S Missense 4/21 - 1
3-178919239-T-C c.724T>C p.C242R Missense 4/21 - 1
3-178919240-G-A c.725G>A p.C242Y Missense 4/21 - 2
3-178919240-G-T c.725G>T p.C242F Missense 4/21 - 2
3-178919241-T-C c.726T>C p.C242= Synonymous 4/21 - 1
3-178919246-T-A c.731T>A p.L244* Nonsense 4/21 - 1
3-178919246-T-G c.731T>G p.L244* Nonsense 4/21 - 1
3-178919248-G-A c.733G>A p.E245K Missense 4/21 - 2
3-178919248-G-T c.733G>T p.E245* Nonsense 4/21 - 2
3-178919254-C-T c.739C>T p.Q247* Nonsense 4/21 - 2
3-178919256-G-GA c.741_742insA p.G248Rfs*11 Frameshift 4/21 - 1
3-178919257-G-T c.742G>T p.G248C Missense 4/21 - 1
3-178919257-G-A c.742G>A p.G248S Missense 4/21 - 1
3-178919258-G-A c.743G>A p.G248D Missense 4/21 - 3
3-178919258-GC-AG c.743_744delinsAG p.G248E Missense 4/21 - 1
3-178919258-G-T c.743G>T p.G248V Missense 4/21 - 1
3-178919260-A-T c.745A>T p.K249* Nonsense 4/21 - 1
3-178919260-A-G c.745A>G p.K249E Missense 4/21 - 1
3-178919262-G-T c.747G>T p.K249N Missense 4/21 - 1
3-178919264-A-T c.749A>T p.Y250F Missense 4/21 - 8
3-178919264-A-C c.749A>C p.Y250S Missense 4/21 - 3
3-178919269-TT-CC c.754_755delinsCC p.L252P Missense 4/21 - 1
3-178919270-T-C c.755T>C p.L252S Missense 4/21 - 1
3-178919274-A-C c.759A>C p.K253N Missense 4/21 - 1
3-178919274-A-T c.759A>T p.K253N Missense 4/21 - 1
3-178919282-G-A c.767G>A p.G256E Missense 4/21 - 1
3-178919284-TG-GC c.769_770delinsGC p.C257A Missense 4/21 - 2
3-178919284-T-G c.769T>G p.C257G Missense 4/21 - 1
3-178919285-G-A c.770G>A p.C257Y Missense 4/21 - 1
3-178919287-G-C c.772G>C p.D258H Missense 4/21 - 1
3-178919288-A-C c.773A>C p.D258A Missense 4/21 - 3
3-178919290-G-T c.775G>T p.E259* Nonsense 4/21 - 1
3-178919290-G-A c.775G>A p.E259K Missense 4/21 - 1
3-178919291-A-C c.776A>C p.E259A Missense 4/21 - 1
3-178919292-A-C c.777A>C p.E259D Missense 4/21 - 1
3-178919292-A-T c.777A>T p.E259D Missense 4/21 - 2
3-178919293-TA-GC c.778_779delinsGC p.Y260A Missense 4/21 - 1
3-178919302-G-C c.787G>C p.E263Q Missense 4/21 - 1
3-178919302-GA-TC c.787_788inv p.E263S Missense 4/21 - 2
3-178919309-A-G c.794A>G p.Y265C Missense 4/21 - 1
3-178919320-C-A c.805C>A p.Q269K Missense 4/21 - 1
3-178919321-A-C c.806A>C p.Q269P Missense 4/21 - 1
3-178919327-A-G c.812A>G p.K271R Missense 4/21 - 1
3-178919347-A-G c.813+19A>G - IntronicSNV - 4/20 1
3-178921158-G-A c.814-174G>A - IntronicSNV - 4/20 1
3-178921332-T-C c.814T>C p.Y272H Missense 5/21 - 1
3-178921335-A-G c.817A>G p.I273V Missense 5/21 - 3
3-178921337-A-C c.819A>C p.I273= Synonymous 5/21 - 1
3-178921338-AG-GC c.820_821delinsGC p.R274A Missense 5/21 - 6
3-178921338-AGA-CAT c.820_822delinsCAT p.R274H Missense 5/21 - 6
3-178921338-AG-CA c.820_821delinsCA p.R274Q Missense 5/21 - 1
3-178921339-G-A c.821G>A p.R274K Missense 5/21 - 2
3-178921341-AG-GC c.823_824delinsGC p.S275A Missense 5/21 - 1
3-178921344-TG-AC c.826_827delinsAC p.C276T Missense 5/21 - 1
3-178921347-AT-CC c.829_830delinsCC p.I277P Missense 5/21 - 1
3-178921354-TT-AA c.836_837inv p.L279Q Missense 5/21 - 1
3-178921357-G-A c.839G>A p.G280E Missense 5/21 - 1
3-178921357-G-T c.839G>T p.G280V Missense 5/21 - 1
3-178921359-A-G c.841A>G p.R281G Missense 5/21 - 1
3-178921359-AGG-TGT c.841_843delinsTGT p.R281C Missense 5/21 - 1
3-178921359-A-T c.841A>T p.R281W Missense 5/21 - 1
3-178921365-C-T c.847C>T p.P283S Missense 5/21 - 2
3-178921366-C-G c.848C>G p.P283R Missense 5/21 - 1
3-178921369-A-C c.851A>C p.N284T Missense 5/21 - 1
3-178921371-T-A c.853T>A p.L285M Missense 5/21 - 1
3-178921376-G-T c.858G>T p.M286I Missense 5/21 - 1
3-178921383-G-A c.865G>A p.A289T Missense 5/21 - 1
3-178921384-C-G c.866C>G p.A289G Missense 5/21 - 1
3-178921384-C-A c.866C>A p.A289D Missense 5/21 - 1
3-178921384-CT-AG c.866_867inv p.A289E Missense 5/21 - 1
3-178921384-C-T c.866C>T p.A289V Missense 5/21 - 1
3-178921384-GC-G c.866del p.A289Vfs*30 Frameshift 5/21 - 1
3-178921386-A-G c.868A>G p.K290E Missense 5/21 - 1
3-178921387-A-G c.869A>G p.K290R Missense 5/21 - 3
3-178921387-AA-TG c.869_870delinsTG p.K290M Missense 5/21 - 1
3-178921395-CT-AC c.877_878delinsAC p.L293T Missense 5/21 - 1
3-178921396-T-A c.878T>A p.L293H Missense 5/21 - 1
3-178921399-A-T c.881A>T p.Y294F Missense 5/21 - 1
3-178921400-T-C c.882T>C p.Y294= Synonymous 5/21 - 2
3-178921401-T-G c.883T>G p.S295A Missense 5/21 - 4
3-178921404-C-G c.886C>G p.Q296E Missense 5/21 - 1
3-178921404-C-T c.886C>T p.Q296* Nonsense 5/21 - 1
3-178921407-CT-GC c.889_890delinsGC p.L297A Missense 5/21 - 1
3-178921407-C-G c.889C>G p.L297V Missense 5/21 - 1
3-178921413-A-G c.895A>G p.M299V Missense 5/21 - 1
3-178921418-C-G c.900C>G p.D300E Missense 5/21 - 20
3-178921418-C-A c.900C>A p.D300E Missense 5/21 - 20
3-178921419-T-A c.901T>A p.C301S Missense 5/21 - 1
3-178921422-TT-GC c.904_905delinsGC p.F302A Missense 5/21 - 1
3-178921422-TTT-AAG c.904_906delinsAAG p.F302K Missense 5/21 - 1
3-178921434-T-C c.916T>C p.S306P Missense 5/21 - 1
3-178921434-TC-CT c.916_917delinsCT p.S306L Missense 5/21 - 1
3-178921437-T-G c.919T>G p.Y307D Missense 5/21 - 1
3-178921440-T-G c.922T>G p.S308A Missense 5/21 - 3
3-178921444-G-A c.926G>A p.R309K Missense 5/21 - 1
3-178921446-C-T c.928C>T p.R310C Missense 5/21 - 3
3-178921446-CGC-TGA c.928_930delinsTGA p.R310* Nonsense 5/21 - 1
3-178921447-G-A c.929G>A p.R310H Missense 5/21 - 1
3-178921449-A-G c.931A>G p.I311V Missense 5/21 - 1
3-178921450-T-C c.932T>C p.I311T Missense 5/21 - 1
3-178921452-T-G c.934T>G p.S312A Missense 5/21 - 1
3-178921453-C-G c.935C>G p.S312C Missense 5/21 - 2
3-178921458-G-A c.940G>A p.A314T Missense 5/21 - 1
3-178921459-C-G c.941C>G p.A314G Missense 5/21 - 1
3-178921461-AC-CT c.943_944delinsCT p.T315L Missense 5/21 - 1
3-178921461-A-G c.943A>G p.T315A Missense 5/21 - 2
3-178921462-C-T c.944C>T p.T315I Missense 5/21 - 214
3-178921464-C-A c.946C>A p.P316T Missense 5/21 - 2
3-178921468-A-T c.950A>T p.Y317F Missense 5/21 - 8
3-178921471-T-G c.953T>G p.M318R Missense 5/21 - 1
3-178921475-T-G c.957T>G p.N319K Missense 5/21 - 1
3-178921475-T-A c.957T>A p.N319K Missense 5/21 - 1
3-178921477-G-T c.959G>T p.G320V Missense 5/21 - 1
3-178921477-G-C c.959G>C p.G320A Missense 5/21 - 1
3-178921477-G-A c.959G>A p.G320E Missense 5/21 - 1
3-178921481-A-C c.963A>C p.E321D Missense 5/21 - 1
3-178921481-A-T c.963A>T p.E321D Missense 5/21 - 1
3-178921482-AC-GA c.964_965delinsGA p.T322E Missense 5/21 - 1
3-178921482-A-G c.964A>G p.T322A Missense 5/21 - 1
3-178921485-TC-CT c.967_968delinsCT p.S323L Missense 5/21 - 1
3-178921485-TC-GA c.967_968inv p.S323D Missense 5/21 - 1
3-178921486-C-A c.968C>A p.S323Y Missense 5/21 - 1
3-178921488-A-C c.970A>C p.T324P Missense 5/21 - 1
3-178921488-A-G c.970A>G p.T324A Missense 5/21 - 1
3-178921489-C-T c.971C>T p.T324I Missense 5/21 - 3
3-178921494-T-G c.976T>G p.S326A Missense 5/21 - 2
3-178921494-TCC-GAG c.976_978delinsGAG p.S326E Missense 5/21 - 1
3-178921494-TC-GA c.976_977inv p.S326D Missense 5/21 - 1
3-178921495-C-G c.977C>G p.S326C Missense 5/21 - 1
3-178921495-C-A c.977C>A p.S326Y Missense 5/21 - 1
3-178921495-C-T c.977C>T p.S326F Missense 5/21 - 3
3-178921497-C-A c.979C>A p.L327I Missense 5/21 - 1
3-178921497-C-T c.979C>T p.L327F Missense 5/21 - 1
3-178921501-G-A c.983G>A p.W328* Nonsense 5/21 - 1
3-178921501-G-C c.983G>C p.W328S Missense 5/21 - 1
3-178921501-G-T c.983G>T p.W328L Missense 5/21 - 1
3-178921502-G-A c.984G>A p.W328* Nonsense 5/21 - 1
3-178921507-T-A c.989T>A p.I330K Missense 5/21 - 1
3-178921507-T-C c.989T>C p.I330T Missense 5/21 - 1
3-178921512-AG-GC c.994_995delinsGC p.S332A Missense 5/21 - 3
3-178921513-G-T c.995G>T p.S332I Missense 5/21 - 1
3-178921515-GCA-TTT c.997_999delinsTTT p.A333F Missense 5/21 - 1
3-178921519-TC-AA c.1001_1002delinsAA p.L334Q Missense 5/21 - 1
3-178921521-A-T c.1003A>T p.R335* Nonsense 5/21 - 1
3-178921521-A-G c.1003A>G p.R335G Missense 5/21 - 2
3-178921522-G-A c.1004G>A p.R335K Missense 5/21 - 1
3-178921523-A-C c.1005A>C p.R335S Missense 5/21 - 1
3-178921523-A-T c.1005A>T p.R335S Missense 5/21 - 1
3-178921530-AT-GC c.1012_1013delinsGC p.I338A Missense 5/21 - 1
3-178921531-T-C c.1013T>C p.I338T Missense 5/21 - 1
3-178921533-C-A c.1015C>A p.L339I Missense 5/21 - 2
3-178921533-CTT-TGG c.1015_1017delinsTGG p.L339W Missense 5/21 - 1
3-178921533-C-T c.1015C>T p.L339F Missense 5/21 - 2
3-178921533-CTT-C c.1017_1018del p.A341Nfs*11 Frameshift 5/21 - 1
3-178921537-G-T c.1019G>T p.C340F Missense 5/21 - 1
3-178921541-A-ATACT c.1023_1024insTACT p.T342Yfs*12 Frameshift 5/21 - 1
3-178921542-AC-GA c.1024_1025delinsGA p.T342D Missense 5/21 - 2
3-178921542-A-G c.1024A>G p.T342A Missense 5/21 - 1
3-178921543-C-CTA c.1025_1026insTA p.Y343Tfs*3 Frameshift 5/21 - 1
3-178921546-A-T c.1028A>T p.Y343F Missense 5/21 - 7
3-178921546-A-G c.1028A>G p.Y343C Missense 5/21 - 4
3-178921547-C-T c.1029C>T p.Y343= Synonymous 5/21 - 1
3-178921548-G-A c.1030G>A p.V344M Missense 5/21 - 42
3-178921548-GT-AG c.1030_1031delinsAG p.V344R Missense 5/21 - 1
3-178921549-T-G c.1031T>G p.V344G Missense 5/21 - 39
3-178921549-T-C c.1031T>C p.V344A Missense 5/21 - 8
3-178921549-T-A c.1031T>A p.V344E Missense 5/21 - 1
3-178921551-A-G c.1033A>G p.N345D Missense 5/21 - 4
3-178921551-A-C c.1033A>C p.N345H Missense 5/21 - 3
3-178921551-A-T c.1033A>T p.N345Y Missense 5/21 - 1
3-178921551-AA-CT c.1033_1034delinsCT p.N345L Missense 5/21 - 2
3-178921552-A-C c.1034A>C p.N345T Missense 5/21 - 11
3-178921552-A-T c.1034A>T p.N345I Missense 5/21 - 24
3-178921552-A-G c.1034A>G p.N345S Missense 5/21 - 3
3-178921553-T-G c.1035T>G p.N345K Missense 5/21 - 56
3-178921553-T-A c.1035T>A p.N345K Missense 5/21 - 222
3-178921552-A-ATTT c.1035_1036insTTT p.N345_V346insF InFrameInsertion 5/21 - 1
3-178921555-T-A c.1037T>A p.V346E Missense 5/21 - 4
3-178921555-T-G c.1037T>G p.V346G Missense 5/21 - 1
3-178921555-T-C c.1037T>C p.V346A Missense 5/21 - 1
3-178921558-A-C c.1040A>C p.N347T Missense 5/21 - 1
3-178921563-C-T c.1045C>T p.R349* Nonsense 5/21 - 1
3-178921563-CG-GC c.1045_1046delinsGC p.R349A Missense 5/21 - 1
3-178921564-G-A c.1046G>A p.R349Q Missense 5/21 - 3
3-178921566-G-A c.1048G>A p.D350N Missense 5/21 - 19
3-178921566-G-C c.1048G>C p.D350H Missense 5/21 - 3
3-178921566-G-T c.1048G>T p.D350Y Missense 5/21 - 1
3-178921567-A-G c.1049A>G p.D350G Missense 5/21 - 22
3-178921569-AT-A c.1053del p.I351Mfs*21 Frameshift 5/21 - 1
3-178921572-G-T c.1054G>T p.D352Y Missense 5/21 - 1
3-178921576-A-G c.1058A>G p.K353R Missense 5/21 - 1
3-178921639-C-A c.1059+62C>A - IntronicSNV - 5/20 1
3-178922274-C-G c.1060-17C>G - IntronicSNV - 5/20 2
3-178922274-C-A c.1060-17C>A - IntronicSNV - 5/20 2
3-178922293-C-G c.1062C>G p.I354M Missense 6/21 - 1
3-178922295-A-T c.1064A>T p.Y355F Missense 6/21 - 1
3-178922297-G-A c.1066G>A p.V356I Missense 6/21 - 2
3-178922297-GT-G c.1068del p.R357Efs*15 Frameshift 6/21 - 1
3-178922301-G-T c.1070G>T p.R357L Missense 6/21 - 2
3-178922301-G-A c.1070G>A p.R357Q Missense 6/21 - 8
3-178922302-A-T c.1071A>T p.R357= Synonymous 6/21 - 1
3-178922306-G-C c.1075G>C p.G359R Missense 6/21 - 2
3-178922307-GT-AG c.1076_1077delinsAG p.G359E Missense 6/21 - 1
3-178922311-C-T c.1080C>T p.I360= Synonymous 6/21 - 1
3-178922313-A-T c.1082A>T p.Y361F Missense 6/21 - 1
3-178922315-C-G c.1084C>G p.H362D Missense 6/21 - 1
3-178922315-C-A c.1084C>A p.H362N Missense 6/21 - 1
3-178922318-G-A c.1087G>A p.G363R Missense 6/21 - 1
3-178922318-G-C c.1087G>C p.G363R Missense 6/21 - 1
3-178922319-G-C c.1088G>C p.G363A Missense 6/21 - 8
3-178922319-G-T c.1088G>T p.G363V Missense 6/21 - 2
3-178922321-GGA-AGC c.1090_1092delinsAGC p.G364S Missense 6/21 - 2
3-178922321-G-A c.1090G>A p.G364R Missense 6/21 - 17
3-178922321-G-C c.1090G>C p.G364R Missense 6/21 - 5
3-178922321-GGA-TGT c.1090_1092delinsTGT p.G364C Missense 6/21 - 1
3-178922322-G-T c.1091G>T p.G364V Missense 6/21 - 1
3-178922324-G-A c.1093G>A p.E365K Missense 6/21 - 49
3-178922324-G-C c.1093G>C p.E365Q Missense 6/21 - 1
3-178922325-A-T c.1094A>T p.E365V Missense 6/21 - 4
3-178922327-C-T c.1096C>T p.P366S Missense 6/21 - 1
3-178922328-C-G c.1097C>G p.P366R Missense 6/21 - 6
3-178922340-A-G c.1109A>G p.N370S Missense 6/21 - 6
3-178922347-C-G c.1116C>G p.N372K Missense 6/21 - 1
3-178922347-C-A c.1116C>A p.N372K Missense 6/21 - 1
3-178922348-AC-TG c.1117_1118delinsTG p.T373C Missense 6/21 - 1
3-178922351-C-T c.1120C>T p.Q374* Nonsense 6/21 - 1
3-178922353-A-T c.1122A>T p.Q374H Missense 6/21 - 1
3-178922353-A-C c.1122A>C p.Q374H Missense 6/21 - 1
3-178922354-AG-CA c.1123_1124delinsCA p.R375Q Missense 6/21 - 1
3-178922354-AGA-CAT c.1123_1125delinsCAT p.R375H Missense 6/21 - 1
3-178922354-A-T c.1123A>T p.R375* Nonsense 6/21 - 1
3-178922360-C-T c.1129C>T p.P377S Missense 6/21 - 1
3-178922361-C-G c.1130C>G p.P377R Missense 6/21 - 1
3-178922361-C-T c.1130C>T p.P377L Missense 6/21 - 1
3-178922363-T-C c.1132T>C p.C378R Missense 6/21 - 15
3-178922364-G-A c.1133G>A p.C378Y Missense 6/21 - 17
3-178922364-G-T c.1133G>T p.C378F Missense 6/21 - 12
3-178922365-T-G c.1134T>G p.C378W Missense 6/21 - 3
3-178922366-TCC-GAG c.1135_1137delinsGAG p.S379E Missense 6/21 - 1
3-178922366-T-G c.1135T>G p.S379A Missense 6/21 - 1
3-178922366-TC-CG c.1135_1136delinsCG p.S379R Missense 6/21 - 2
3-178922366-T-A c.1135T>A p.S379T Missense 6/21 - 2
3-178922369-A-C c.1138A>C p.N380H Missense 6/21 - 1
3-178922370-A-G c.1139A>G p.N380S Missense 6/21 - 2
3-178922372-C-T c.1141C>T p.P381S Missense 6/21 - 2
3-178922373-CC-AA c.1142_1143delinsAA p.P381Q Missense 6/21 - 1
3-178922374-C-G c.1143C>G p.P381= Synonymous 6/21 - 4
3-178922374-C-T c.1143C>T p.P381= Synonymous 6/21 - 2
3-178922374-C-A c.1143C>A p.P381= Synonymous 6/21 - 2
3-178922376-G-A c.1145G>A p.R382K Missense 6/21 - 2
3-178923807-C-A c.1145+1431C>A - IntronicSNV - 6/20 6
3-178923807-C-T c.1145+1431C>T - IntronicSNV - 6/20 6
3-178924950-A-T c.1146-2433A>T - IntronicSNV - 6/20 1
3-178927286-T-C c.1146-97T>C - IntronicSNV - 6/20 1
3-178927345-T-C c.1146-38T>C - IntronicSNV - 6/20 1
3-178927381-AG-A c.1146del p.R382Sfs*6 Frameshift 7/21 - 1
3-178927390-G-A c.1153G>A p.E385K Missense 7/21 - 1
3-178927394-G-T c.1157G>T p.W386L Missense 7/21 - 1
3-178927396-C-G c.1159C>G p.L387V Missense 7/21 - 1
3-178927398-G-T c.1161G>T p.L387= Synonymous 7/21 - 1
3-178927398-G-A c.1161G>A p.L387= Synonymous 7/21 - 1
3-178927398-G-C c.1161G>C p.L387= Synonymous 7/21 - 1
3-178927396-C-T c.1159C>T p.L387= Synonymous 7/21 - 1
3-178927401-T-G c.1164T>G p.N388K Missense 7/21 - 1
3-178927401-T-A c.1164T>A p.N388K Missense 7/21 - 1
3-178927404-T-A c.1167T>A p.Y389* Nonsense 7/21 - 1
3-178927404-T-G c.1167T>G p.Y389* Nonsense 7/21 - 1
3-178927408-A-C c.1171A>C p.I391L Missense 7/21 - 1
3-178927408-A-T c.1171A>T p.I391L Missense 7/21 - 1
3-178927409-T-A c.1172T>A p.I391K Missense 7/21 - 1
3-178927410-A-G c.1173A>G p.I391M Missense 7/21 - 63
3-178927412-A-G c.1175A>G p.Y392C Missense 7/21 - 1
3-178927413-C-A c.1176C>A p.Y392* Nonsense 7/21 - 1
3-178927414-AT-GC c.1177_1178delinsGC p.I393A Missense 7/21 - 2
3-178927415-T-C c.1178T>C p.I393T Missense 7/21 - 1
3-178927418-C-T c.1181C>T p.P394L Missense 7/21 - 1
3-178927421-A-C c.1184A>C p.D395A Missense 7/21 - 6
3-178927423-C-T c.1186C>T p.L396F Missense 7/21 - 1
3-178927423-C-CGG c.1186_1187insGG p.L396Rfs*33 Frameshift 7/21 - 1
3-178927426-C-T c.1189C>T p.P397S Missense 7/21 - 1
3-178927427-C-A c.1190C>A p.P397H Missense 7/21 - 1
3-178927429-C-T c.1192C>T p.R398C Missense 7/21 - 2
3-178927429-C-G c.1192C>G p.R398G Missense 7/21 - 1
3-178927429-CGT-TGA c.1192_1194delinsTGA p.R398* Nonsense 7/21 - 1
3-178927430-G-A c.1193G>A p.R398H Missense 7/21 - 2
3-178927435-G-C c.1198G>C p.A400P Missense 7/21 - 1
3-178927436-C-T c.1199C>T p.A400V Missense 7/21 - 1
3-178927438-CGA-TGT c.1201_1203delinsTGT p.R401C Missense 7/21 - 1
3-178927438-C-T c.1201C>T p.R401* Nonsense 7/21 - 1
3-178927439-GA-AT c.1202_1203delinsAT p.R401H Missense 7/21 - 1
3-178927439-G-A c.1202G>A p.R401Q Missense 7/21 - 2
3-178927441-CTT-GAG c.1204_1206delinsGAG p.L402E Missense 7/21 - 1
3-178927442-T-C c.1205T>C p.L402P Missense 7/21 - 1
3-178927442-T-G c.1205T>G p.L402R Missense 7/21 - 1
3-178927444-TG-GC c.1207_1208delinsGC p.C403A Missense 7/21 - 1
3-178927447-CT-AG c.1210_1211inv p.L404S Missense 7/21 - 1
3-178927448-T-C c.1211T>C p.L404P Missense 7/21 - 1
3-178927448-T-A c.1211T>A p.L404H Missense 7/21 - 1
3-178927450-T-G c.1213T>G p.S405A Missense 7/21 - 1
3-178927451-C-T c.1214C>T p.S405F Missense 7/21 - 3
3-178927452-C-T c.1215C>T p.S405= Synonymous 7/21 - 4
3-178927452-C-G c.1215C>G p.S405= Synonymous 7/21 - 4
3-178927452-C-A c.1215C>A p.S405= Synonymous 7/21 - 4
3-178927456-T-C c.1219T>C p.C407R Missense 7/21 - 1
3-178927456-T-A c.1219T>A p.C407S Missense 7/21 - 1
3-178927457-G-C c.1220G>C p.C407S Missense 7/21 - 1
3-178927457-G-A c.1220G>A p.C407Y Missense 7/21 - 1
3-178927458-C-G c.1221C>G p.C407W Missense 7/21 - 1
3-178927458-C-A c.1221C>A p.C407* Nonsense 7/21 - 1
3-178927459-T-G c.1222T>G p.S408A Missense 7/21 - 5
3-178927459-TCT-GAG c.1222_1224delinsGAG p.S408E Missense 7/21 - 2
3-178927459-TC-GA c.1222_1223inv p.S408D Missense 7/21 - 1
3-178927461-T-C c.1224T>C p.S408= Synonymous 7/21 - 1
3-178927462-G-C c.1225G>C p.V409L Missense 7/21 - 1
3-178927467-A-G c.1230A>G p.K410= Synonymous 7/21 - 1
3-178927471-CGA-AGC c.1234_1236delinsAGC p.R412S Missense 7/21 - 1
3-178927472-G-A c.1235G>A p.R412Q Missense 7/21 - 3
3-178927474-AAG-TAT c.1237_1239delinsTAT p.K413Y Missense 7/21 - 1
3-178927475-A-G c.1238A>G p.K413R Missense 7/21 - 1
3-178927477-G-C c.1240G>C p.G414R Missense 7/21 - 2
3-178927480-G-A c.1243G>A p.A415T Missense 7/21 - 1
3-178927481-C-G c.1244C>G p.A415G Missense 7/21 - 3
3-178927483-A-G c.1246A>G p.K416E Missense 7/21 - 3
3-178927485-A-G c.1248A>G p.K416= Synonymous 7/21 - 1
3-178927486-G-A c.1249G>A p.E417K Missense 7/21 - 2
3-178927497-T-C c.1251+9T>C - IntronicSNV - 7/20 1
3-178927520-A-G c.1251+32A>G - IntronicSNV - 7/20 1
3-178927523-T-C c.1251+35T>C - IntronicSNV - 7/20 1
3-178927974-G-A c.1252G>A p.E418K Missense 8/21 - 48
3-178927975-A-G c.1253A>G p.E418G Missense 8/21 - 1
3-178927975-AACACTGTCC-A c.1255_1263del p.H419_P421del InFrameDeletion 8/21 - 1
3-178927977-ACACTGTCCATTG-A c.1255_1266del p.H419_L422del InFrameDeletion 8/21 - 1
3-178927978-A-G c.1256A>G p.H419R Missense 8/21 - 1
3-178927976-ACACTGT-A c.1256_1261del p.H419_C420del InFrameDeletion 8/21 - 2
3-178927980-T-C c.1258T>C p.C420R Missense 8/21 - 262
3-178927980-T-G c.1258T>G p.C420G Missense 8/21 - 2
3-178927980-T-A c.1258T>A p.C420S Missense 8/21 - 1
3-178927981-G-C c.1259G>C p.C420S Missense 8/21 - 1
3-178927980-TG-CT c.1258_1259delinsCT p.C420L Missense 8/21 - 1
3-178927980-TGT-AAG c.1258_1260delinsAAG p.C420K Missense 8/21 - 2
3-178927978-ACTGTC-A c.1258_1262del p.C420Ifs*10 Frameshift 8/21 - 1
3-178927981-G-T c.1259G>T p.C420F Missense 8/21 - 1
3-178927979-CTGTCCA-C c.1259_1264del p.C420_P421del InFrameDeletion 8/21 - 2
3-178927983-C-T c.1261C>T p.P421S Missense 8/21 - 1
3-178927990-C-T c.1268C>T p.A423V Missense 8/21 - 1
3-178927993-G-A c.1271G>A p.W424* Nonsense 8/21 - 1
3-178928001-A-G c.1279A>G p.I427V Missense 8/21 - 3
3-178928002-T-C c.1280T>C p.I427T Missense 8/21 - 1
3-178928002-T-A c.1280T>A p.I427K Missense 8/21 - 1
3-178928004-A-G c.1282A>G p.N428D Missense 8/21 - 1
3-178928008-T-G c.1286T>G p.L429W Missense 8/21 - 1
3-178928008-T-C c.1286T>C p.L429S Missense 8/21 - 1
3-178928010-TT-GC c.1288_1289delinsGC p.F430A Missense 8/21 - 1
3-178928010-T-C c.1288T>C p.F430L Missense 8/21 - 1
3-178928012-T-A c.1290T>A p.F430L Missense 8/21 - 1
3-178928012-T-G c.1290T>G p.F430L Missense 8/21 - 1
3-178928013-GA-AT c.1291_1292delinsAT p.D431I Missense 8/21 - 1
3-178928022-G-A c.1300G>A p.D434N Missense 8/21 - 1
3-178928025-A-G c.1303A>G p.T435A Missense 8/21 - 1
3-178928027-T-C c.1305T>C p.T435= Synonymous 8/21 - 1
3-178928035-C-T c.1313C>T p.S438F Missense 8/21 - 2
3-178928038-G-C c.1316G>C p.G439A Missense 8/21 - 2
3-178928049-T-G c.1327T>G p.L443V Missense 8/21 - 1
3-178928050-T-C c.1328T>C p.L443S Missense 8/21 - 2
3-178928055-CTT-ATG c.1333_1335delinsATG p.L445M Missense 8/21 - 1
3-178928056-T-C c.1334T>C p.L445P Missense 8/21 - 1
3-178928057-T-A c.1335T>A p.L445= Synonymous 8/21 - 1
3-178928061-C-T c.1339C>T p.P447S Missense 8/21 - 2
3-178928059-GGCCAGTACCTCATGGATTAGAAGATTT-G c.1340_1366del p.P447_L455del InFrameDeletion 8/21 - 5
3-178928062-C-T c.1340C>T p.P447L Missense 8/21 - 1
3-178928062-CAGTACCTCATGG-C c.1342_1353del p.V448_G451del InFrameDeletion 8/21 - 2
3-178928065-T-C c.1343T>C p.V448A Missense 8/21 - 1
3-178928067-C-A c.1345C>A p.P449T Missense 8/21 - 56
3-178928067-C-T c.1345C>T p.P449S Missense 8/21 - 7
3-178928067-ACCTCATGGATTAGAAGATTTGCTGAACCCTATTGGTGTT-A c.1345_1383del p.P449_V461del InFrameDeletion 8/21 - 1
3-178928064-GTACCTCATGGAT-G c.1345_1356del p.P449_L452del InFrameDeletion 8/21 - 1
3-178928066-ACCTCATGGATTAGAAGATTTG-A c.1346_1366del p.P449_L455del InFrameDeletion 8/21 - 1
3-178928068-C-T c.1346C>T p.P449L Missense 8/21 - 3
3-178928068-C-G c.1346C>G p.P449R Missense 8/21 - 2
3-178928070-C-T c.1348C>T p.H450Y Missense 8/21 - 2
3-178928071-A-G c.1349A>G p.H450R Missense 8/21 - 1
3-178928071-CATGGATTAGAAGATT-C c.1349_1363del p.H450_D454del InFrameDeletion 8/21 - 1
3-178928073-G-A c.1351G>A p.G451R Missense 8/21 - 4
3-178928073-G-C c.1351G>C p.G451R Missense 8/21 - 2
3-178928073-GG-AC c.1351_1352delinsAC p.G451T Missense 8/21 - 1
3-178928070-CATGGATTAGAAG-C c.1351_1362del p.G451_D454del InFrameDeletion 8/21 - 2
3-178928074-G-T c.1352G>T p.G451V Missense 8/21 - 4
3-178928074-G-C c.1352G>C p.G451A Missense 8/21 - 1
3-178928074-G-A c.1352G>A p.G451E Missense 8/21 - 1
3-178928074-GGATTAGAAGATTTGC-G c.1352_1366del p.G451_L456delinsV MultiAAMissense 8/21 - 1
3-178928075-GATTAGAAGATTT-G c.1353_1364del p.E453_L456del InFrameDeletion 8/21 - 2
3-178928075-ATTAGAAGATTTG-T c.1353_1365delinsT p.E453_L456del InFrameDeletion 8/21 - 1
3-178928075-GATTAGAAGATT-G c.1353_1363del p.L452Afs*13 Frameshift 8/21 - 1
3-178928076-TT-AG c.1354_1355delinsAG p.L452R Missense 8/21 - 7
3-178928079-G-A c.1357G>A p.E453K Missense 8/21 - 103
3-178928079-G-C c.1357G>C p.E453Q Missense 8/21 - 29
3-178928079-AGAAGATTTG-A c.1357_1365del p.E453_L455del InFrameDeletion 8/21 - 1
3-178928079-GAA-AAC c.1357_1359delinsAAC p.E453N Missense 8/21 - 1
3-178928079-AGAAGAT-A c.1357_1362del p.E453_D454del InFrameDeletion 8/21 - 1
3-178928079-AGAAGATTTGCTGAACCCT-A c.1357_1374del p.E453_P458del InFrameDeletion 8/21 - 1
3-178928080-A-C c.1358A>C p.E453A Missense 8/21 - 3
3-178928080-A-G c.1358A>G p.E453G Missense 8/21 - 1
3-178928077-TAGA-T c.1359_1361del p.E453del InFrameDeletion 8/21 - 15
3-178928081-AAGATTTGCTGAACCC-A c.1359_1373del p.E453_P458delinsD MultiAAMissense 8/21 - 1
3-178928081-A-G c.1359A>G p.E453= Synonymous 8/21 - 1
3-178928081-A-C c.1359A>C p.E453D Missense 8/21 - 1
3-178928081-A-T c.1359A>T p.E453D Missense 8/21 - 1
3-178928082-G-A c.1360G>A p.D454N Missense 8/21 - 1
3-178928084-T-G c.1362T>G p.D454E Missense 8/21 - 1
3-178928084-T-A c.1362T>A p.D454E Missense 8/21 - 1
3-178928085-TTTG-T c.1363_1365del p.L456del InFrameDeletion 8/21 - 7
3-178928085-TT-GC c.1363_1364delinsGC p.L455A Missense 8/21 - 1
3-178928085-TTGC-T c.1366_1368del p.L456del InFrameDeletion 8/21 - 2
3-178928088-CT-TC c.1366_1367delinsTC p.L456S Missense 8/21 - 1
3-178928088-C-G c.1366C>G p.L456V Missense 8/21 - 1
3-178928088-C-A c.1366C>A p.L456M Missense 8/21 - 1
3-178928089-T-G c.1367T>G p.L456R Missense 8/21 - 1
3-178928089-T-A c.1367T>A p.L456Q Missense 8/21 - 1
3-178928092-A-C c.1370A>C p.N457T Missense 8/21 - 1
3-178928092-AACCC-A c.1370_1373del p.N457Ifs*16 Frameshift 8/21 - 1
3-178928093-C-G c.1371C>G p.N457K Missense 8/21 - 2
3-178928093-C-A c.1371C>A p.N457K Missense 8/21 - 2
3-178928094-C-T c.1372C>T p.P458S Missense 8/21 - 1
3-178928094-CCCT-C c.1372_1374del p.P458del InFrameDeletion 8/21 - 3
3-178928094-CCTATTGGTGTTA-C c.1375_1386del p.I459_T462del InFrameDeletion 8/21 - 1
3-178928097-A-G c.1375A>G p.I459V Missense 8/21 - 1
3-178928098-T-C c.1376T>C p.I459T Missense 8/21 - 1
3-178928101-G-A c.1379G>A p.G460D Missense 8/21 - 1
3-178928105-T-C c.1383T>C p.V461= Synonymous 8/21 - 1
3-178928109-GGA-TGT c.1387_1389delinsTGT p.G463C Missense 8/21 - 1
3-178928109-G-T c.1387G>T p.G463* Nonsense 8/21 - 1
3-178928109-G-A c.1387G>A p.G463R Missense 8/21 - 1
3-178928109-G-C c.1387G>C p.G463R Missense 8/21 - 1
3-178928110-G-T c.1388G>T p.G463V Missense 8/21 - 1
3-178928110-G-A c.1388G>A p.G463E Missense 8/21 - 1
3-178928110-G-C c.1388G>C p.G463A Missense 8/21 - 1
3-178928110-GGATCAA-G c.1388_1393del p.G463_N465delinsD MultiAAMissense 8/21 - 1
3-178928112-T-G c.1390T>G p.S464A Missense 8/21 - 2
3-178928123-T-C c.1401T>C p.N467= Synonymous 8/21 - 1
3-178928126-A-G c.1404A>G p.K468= Synonymous 8/21 - 1
3-178928136-T-G c.1404+10T>G - IntronicSNV - 8/20 1
3-178928145-T-A c.1404+19T>A - IntronicSNV - 8/20 1
3-178928219-G-A c.1405G>A p.E469K Missense 9/21 - 3
3-178928219-G-C c.1405G>C p.E469Q Missense 9/21 - 1
3-178928220-A-G c.1406A>G p.E469G Missense 9/21 - 2
3-178928220-A-C c.1406A>C p.E469A Missense 9/21 - 1
3-178928222-A-G c.1408A>G p.T470A Missense 9/21 - 5
3-178928222-ACT-GAG c.1408_1410delinsGAG p.T470E Missense 9/21 - 1
3-178928222-AC-GA c.1408_1409delinsGA p.T470D Missense 9/21 - 1
3-178928223-C-T c.1409C>T p.T470I Missense 9/21 - 1
3-178928225-C-G c.1411C>G p.P471A Missense 9/21 - 3
3-178928226-C-T c.1412C>T p.P471L Missense 9/21 - 19
3-178928228-TG-AC c.1414_1415delinsAC p.C472T Missense 9/21 - 1
3-178928228-T-A c.1414T>A p.C472S Missense 9/21 - 1
3-178928229-G-C c.1415G>C p.C472S Missense 9/21 - 1
3-178928229-G-A c.1415G>A p.C472Y Missense 9/21 - 2
3-178928230-C-CTTTGAG c.1418_1419insTGAGTT p.C472_L473insFE InFrameInsertion 9/21 - 1
3-178928234-G-A c.1420G>A p.E474K Missense 9/21 - 1
3-178928235-A-C c.1421A>C p.E474A Missense 9/21 - 1
3-178928240-G-C c.1426G>C p.E476Q Missense 9/21 - 2
3-178928240-G-A c.1426G>A p.E476K Missense 9/21 - 2
3-178928246-G-T c.1432G>T p.D478Y Missense 9/21 - 2
3-178928249-T-A c.1435T>A p.W479R Missense 9/21 - 1
3-178928250-G-A c.1436G>A p.W479* Nonsense 9/21 - 1
3-178928251-G-A c.1437G>A p.W479* Nonsense 9/21 - 1
3-178928264-G-C c.1450G>C p.V484L Missense 9/21 - 1
3-178928264-G-T c.1450G>T p.V484L Missense 9/21 - 1
3-178928271-T-C c.1457T>C p.F486S Missense 9/21 - 2
3-178928274-C-T c.1460C>T p.P487L Missense 9/21 - 2
3-178928276-G-A c.1462G>A p.D488N Missense 9/21 - 2
3-178928277-A-C c.1463A>C p.D488A Missense 9/21 - 2
3-178928291-G-T c.1477G>T p.E493* Nonsense 9/21 - 1
3-178928291-G-A c.1477G>A p.E493K Missense 9/21 - 2
3-178928294-G-A c.1480G>A p.E494K Missense 9/21 - 2
3-178928295-A-C c.1481A>C p.E494A Missense 9/21 - 2
3-178928298-A-G c.1484A>G p.H495R Missense 9/21 - 1
3-178928300-G-T c.1486G>T p.A496S Missense 9/21 - 1
3-178928300-G-A c.1486G>A p.A496T Missense 9/21 - 1
3-178928304-A-G c.1490A>G p.N497S Missense 9/21 - 4
3-178928306-T-A c.1492T>A p.W498R Missense 9/21 - 1
3-178928306-T-C c.1492T>C p.W498R Missense 9/21 - 1
3-178928308-G-C c.1494G>C p.W498C Missense 9/21 - 1
3-178928308-G-T c.1494G>T p.W498C Missense 9/21 - 1
3-178928309-T-G c.1495T>G p.S499A Missense 9/21 - 1
3-178928310-C-T c.1496C>T p.S499F Missense 9/21 - 3
3-178928310-C-A c.1496C>A p.S499Y Missense 9/21 - 1
3-178928312-GTA-TGT c.1498_1500delinsTGT p.V500C Missense 9/21 - 1
3-178928315-TC-AT c.1501_1502delinsAT p.S501I Missense 9/21 - 1
3-178928315-T-G c.1501T>G p.S501A Missense 9/21 - 5
3-178928315-TC-GA c.1501_1502inv p.S501D Missense 9/21 - 2
3-178928318-C-G c.1504C>G p.R502G Missense 9/21 - 1
3-178928319-G-A c.1505G>A p.R502Q Missense 9/21 - 1
3-178928325-C-A c.1511C>A p.A504E Missense 9/21 - 1
3-178928328-G-A c.1514G>A p.G505E Missense 9/21 - 2
3-178928333-AG-GC c.1519_1520delinsGC p.S507A Missense 9/21 - 2
3-178928337-A-T c.1523A>T p.Y508F Missense 9/21 - 9
3-178928339-TC-GG c.1525_1526delinsGG p.S509G Missense 9/21 - 1
3-178928339-T-G c.1525T>G p.S509A Missense 9/21 - 1
3-178928340-C-A c.1526C>A p.S509Y Missense 9/21 - 1
3-178928342-C-A c.1528C>A p.H510N Missense 9/21 - 2
3-178928342-CA-GC c.1528_1529delinsGC p.H510A Missense 9/21 - 5
3-178928345-G-A c.1531G>A p.A511T Missense 9/21 - 4
3-178935943-C-T c.1540-55C>T - IntronicSNV - 9/20 1
3-178935997-G-GA c.1540dup p.S514Kfs*2 SpliceAcceptorInsertion 10/21 - 1
3-178935998-AG-TT c.1540_1541delinsTT p.S514F Missense 10/21 - 2
3-178935998-A-G c.1540A>G p.S514G Missense 10/21 - 1
3-178935999-AGT-A c.1541_1542del p.S514Kfs*5 SpliceAcceptorDeletion 10/21 - 1
3-178936002-A-G c.1544A>G p.N515S Missense 10/21 - 3
3-178936000-T-TA c.1544dup p.N515Kfs*5 Frameshift 10/21 - 1
3-178936004-A-G c.1546A>G p.R516G Missense 10/21 - 1
3-178936005-G-A c.1547G>A p.R516K Missense 10/21 - 3
3-178936007-C-G c.1549C>G p.L517V Missense 10/21 - 1
3-178936008-T-C c.1550T>C p.L517P Missense 10/21 - 1
3-178936009-A-T c.1551A>T p.L517= Synonymous 10/21 - 1
3-178936009-A-C c.1551A>C p.L517= Synonymous 10/21 - 1
3-178936009-A-G c.1551A>G p.L517= Synonymous 10/21 - 1
3-178936007-C-T c.1549C>T p.L517= Synonymous 10/21 - 1
3-178936013-A-T c.1555A>T p.R519* Nonsense 10/21 - 1
3-178936013-A-G c.1555A>G p.R519G Missense 10/21 - 2
3-178936016-G-A c.1558G>A p.D520N Missense 10/21 - 1
3-178936020-A-G c.1562A>G p.N521S Missense 10/21 - 2
3-178936021-AT-A c.1563del p.N521Kfs*3 Frameshift 10/21 - 1
3-178936022-G-A c.1564G>A p.E522K Missense 10/21 - 2
3-178936023-A-T c.1565A>T p.E522V Missense 10/21 - 1
3-178936025-T-A c.1567T>A p.L523I Missense 10/21 - 1
3-178936026-T-C c.1568T>C p.L523S Missense 10/21 - 2
3-178936029-G-A c.1571G>A p.R524K Missense 10/21 - 15
3-178936029-G-T c.1571G>T p.R524M Missense 10/21 - 2
3-178936031-G-A c.1573G>A p.E525K Missense 10/21 - 14
3-178936031-G-T c.1573G>T p.E525* Nonsense 10/21 - 1
3-178936032-A-G c.1574A>G p.E525G Missense 10/21 - 2
3-178936032-A-C c.1574A>C p.E525A Missense 10/21 - 3
3-178936034-A-G c.1576A>G p.N526D Missense 10/21 - 2
3-178936036-T-G c.1578T>G p.N526K Missense 10/21 - 1
3-178936036-T-A c.1578T>A p.N526K Missense 10/21 - 1
3-178936037-G-A c.1579G>A p.D527N Missense 10/21 - 1
3-178936039-C-T c.1581C>T p.D527= Synonymous 10/21 - 1
3-178936043-G-T c.1585G>T p.E529* Nonsense 10/21 - 1
3-178936043-G-A c.1585G>A p.E529K Missense 10/21 - 1
3-178936044-A-G c.1586A>G p.E529G Missense 10/21 - 1
3-178936045-A-AT c.1587_1588insT p.Q530Sfs*13 Frameshift 10/21 - 1
3-178936046-C-T c.1588C>T p.Q530* Nonsense 10/21 - 1
3-178936047-A-G c.1589A>G p.Q530R Missense 10/21 - 1
3-178936049-C-T c.1591C>T p.L531F Missense 10/21 - 1
3-178936050-T-C c.1592T>C p.L531P Missense 10/21 - 2
3-178936051-C-G c.1593C>G p.L531= Synonymous 10/21 - 1
3-178936051-C-A c.1593C>A p.L531= Synonymous 10/21 - 1
3-178936051-C-T c.1593C>T p.L531= Synonymous 10/21 - 1
3-178936052-AAA-GAC c.1594_1596delinsGAC p.K532D Missense 10/21 - 2
3-178936053-A-G c.1595A>G p.K532R Missense 10/21 - 2
3-178936055-G-A c.1597G>A p.A533T Missense 10/21 - 2
3-178936056-C-T c.1598C>T p.A533V Missense 10/21 - 3
3-178936058-A-G c.1600A>G p.I534V Missense 10/21 - 1
3-178936061-T-G c.1603T>G p.S535A Missense 10/21 - 3
3-178936064-A-G c.1606A>G p.T536A Missense 10/21 - 1
3-178936063-T-TA c.1606dup p.T536Nfs*7 Frameshift 10/21 - 1
3-178936065-C-T c.1607C>T p.T536I Missense 10/21 - 3
3-178936067-C-T c.1609C>T p.R537* Nonsense 10/21 - 2
3-178936068-G-T c.1610G>T p.R537L Missense 10/21 - 2
3-178936068-G-A c.1610G>A p.R537Q Missense 10/21 - 2
3-178936070-G-A c.1612G>A p.D538N Missense 10/21 - 3
3-178936070-G-T c.1612G>T p.D538Y Missense 10/21 - 1
3-178936071-A-G c.1613A>G p.D538G Missense 10/21 - 21
3-178936071-A-T c.1613A>T p.D538V Missense 10/21 - 1
3-178936073-C-T c.1615C>T p.P539S Missense 10/21 - 6
3-178936074-C-G c.1616C>G p.P539R Missense 10/21 - 67
3-178936074-C-T c.1616C>T p.P539L Missense 10/21 - 2
3-178936071-ATCC-A c.1616_1618del p.P539del InFrameDeletion 10/21 - 1
3-178936074-C-A c.1616C>A p.P539H Missense 10/21 - 1
3-178936076-C-G c.1618C>G p.L540V Missense 10/21 - 5
3-178936076-C-T c.1618C>T p.L540F Missense 10/21 - 3
3-178936076-C-A c.1618C>A p.L540I Missense 10/21 - 1
3-178936077-T-C c.1619T>C p.L540P Missense 10/21 - 1
3-178936078-C-T c.1620C>T p.L540= Synonymous 10/21 - 1
3-178936078-C-G c.1620C>G p.L540= Synonymous 10/21 - 1
3-178936078-C-A c.1620C>A p.L540= Synonymous 10/21 - 1
3-178936079-T-C c.1621T>C p.S541P Missense 10/21 - 2
3-178936079-T-G c.1621T>G p.S541A Missense 10/21 - 1
3-178936080-C-T c.1622C>T p.S541F Missense 10/21 - 5
3-178936080-C-A c.1622C>A p.S541Y Missense 10/21 - 1
3-178936081-T-C c.1623T>C p.S541= Synonymous 10/21 - 2
3-178936082-G-A c.1624G>A p.E542K Missense 10/21 - 1495
3-178936082-G-C c.1624G>C p.E542Q Missense 10/21 - 43
3-178936082-GA-AG c.1624_1625delinsAG p.E542R Missense 10/21 - 2
3-178936082-GA-CT c.1624_1625delinsCT p.E542L Missense 10/21 - 1
3-178936082-G-T c.1624G>T p.E542* Nonsense 10/21 - 12
3-178936083-A-G c.1625A>G p.E542G Missense 10/21 - 24
3-178936083-A-T c.1625A>T p.E542V Missense 10/21 - 34
3-178936083-A-C c.1625A>C p.E542A Missense 10/21 - 21
3-178936084-A-G c.1626A>G p.E542= Synonymous 10/21 - 5
3-178936084-A-C c.1626A>C p.E542D Missense 10/21 - 1
3-178936084-A-T c.1626A>T p.E542D Missense 10/21 - 1
3-178936085-A-G c.1627A>G p.I543V Missense 10/21 - 2
3-178936086-T-C c.1628T>C p.I543T Missense 10/21 - 1
3-178936086-T-G c.1628T>G p.I543S Missense 10/21 - 1
3-178936087-C-T c.1629C>T p.I543= Synonymous 10/21 - 3
3-178936087-C-A c.1629C>A p.I543= Synonymous 10/21 - 1
3-178936087-C-G c.1629C>G p.I543M Missense 10/21 - 1
3-178936088-A-C c.1630A>C p.T544P Missense 10/21 - 1
3-178936089-C-A c.1631C>A p.T544N Missense 10/21 - 3
3-178936089-C-T c.1631C>T p.T544I Missense 10/21 - 3
3-178936090-T-G c.1632T>G p.T544= Synonymous 10/21 - 1
3-178936090-T-C c.1632T>C p.T544= Synonymous 10/21 - 1
3-178936090-T-A c.1632T>A p.T544= Synonymous 10/21 - 1
3-178936091-G-A c.1633G>A p.E545K Missense 10/21 - 2229
3-178936091-G-T c.1633G>T p.E545* Nonsense 10/21 - 21
3-178936091-G-C c.1633G>C p.E545Q Missense 10/21 - 90
3-178936091-GAG-AAC c.1633_1635delinsAAC p.E545N Missense 10/21 - 1
3-178936091-GA-CT c.1633_1634delinsCT p.E545L Missense 10/21 - 4
3-178936091-GA-AC c.1633_1634delinsAC p.E545T Missense 10/21 - 1
3-178936091-GAG-ATC c.1633_1635delinsATC p.E545I Missense 10/21 - 1
3-178936091-GA-AG c.1633_1634delinsAG p.E545R Missense 10/21 - 4
3-178936092-A-G c.1634A>G p.E545G Missense 10/21 - 193
3-178936092-A-C c.1634A>C p.E545A Missense 10/21 - 214
3-178936092-A-T c.1634A>T p.E545V Missense 10/21 - 11
3-178936093-G-C c.1635G>C p.E545D Missense 10/21 - 50
3-178936093-G-T c.1635G>T p.E545D Missense 10/21 - 97
3-178936093-G-A c.1635G>A p.E545= Synonymous 10/21 - 8
3-178936094-C-A c.1636C>A p.Q546K Missense 10/21 - 221
3-178936094-C-G c.1636C>G p.Q546E Missense 10/21 - 73
3-178936094-C-T c.1636C>T p.Q546* Nonsense 10/21 - 15
3-178936095-A-G c.1637A>G p.Q546R Missense 10/21 - 149
3-178936095-A-C c.1637A>C p.Q546P Missense 10/21 - 55
3-178936095-A-T c.1637A>T p.Q546L Missense 10/21 - 25
3-178936096-G-T c.1638G>T p.Q546H Missense 10/21 - 32
3-178936096-G-C c.1638G>C p.Q546H Missense 10/21 - 14
3-178936096-G-A c.1638G>A p.Q546= Synonymous 10/21 - 4
3-178936097-G-A c.1639G>A p.E547K Missense 10/21 - 11
3-178936097-G-C c.1639G>C p.E547Q Missense 10/21 - 3
3-178936098-A-C c.1640A>C p.E547A Missense 10/21 - 1
3-178936099-G-A c.1641G>A p.E547= Synonymous 10/21 - 2
3-178936099-G-GT c.1641_1642insT p.K548* Nonsense 10/21 - 1
3-178936102-A-G c.1644A>G p.K548= Synonymous 10/21 - 1
3-178936102-A-T c.1644A>T p.K548N Missense 10/21 - 1
3-178936103-G-A c.1645G>A p.D549N Missense 10/21 - 25
3-178936103-GA-TG c.1645_1646delinsTG p.D549C Missense 10/21 - 2
3-178936103-G-T c.1645G>T p.D549Y Missense 10/21 - 5
3-178936103-G-C c.1645G>C p.D549H Missense 10/21 - 7
3-178936104-A-G c.1646A>G p.D549G Missense 10/21 - 3
3-178936104-A-C c.1646A>C p.D549A Missense 10/21 - 1
3-178936105-T-G c.1647T>G p.D549E Missense 10/21 - 1
3-178936105-T-A c.1647T>A p.D549E Missense 10/21 - 1
3-178936109-C-A c.1651C>A p.L551I Missense 10/21 - 2
3-178936109-C-T c.1651C>T p.L551= Synonymous 10/21 - 3
3-178936111-A-T c.1653A>T p.L551= Synonymous 10/21 - 1
3-178936111-A-C c.1653A>C p.L551= Synonymous 10/21 - 1
3-178936111-A-G c.1653A>G p.L551= Synonymous 10/21 - 1
3-178936112-T-G c.1654T>G p.W552G Missense 10/21 - 1
3-178936114-G-A c.1656G>A p.W552* Nonsense 10/21 - 6
3-178936113-G-A c.1655G>A p.W552* Nonsense 10/21 - 3
3-178936115-AG-GC c.1657_1658delinsGC p.S553A Missense 10/21 - 1
3-178936116-GT-C c.1658_1659delinsC p.S553Tfs*7 Frameshift 10/21 - 3
3-178936116-G-A c.1658G>A p.S553N Missense 10/21 - 2
3-178936116-G-C c.1658G>C p.S553T Missense 10/21 - 3
3-178936121-A-G c.1663A>G p.R555G Missense 10/21 - 1
3-178936121-AG-GA c.1663_1664delinsGA p.R555E Missense 10/21 - 1
3-178936122-G-A c.1664G>A p.R555K Missense 10/21 - 2
3-178936122-G-C c.1664G>C p.R555T Missense 10/21 - 1
3-178936142-T-C c.1664+20T>C - IntronicSNV - 10/20 1
3-178936149-T-C c.1664+27T>C - IntronicSNV - 10/20 1
3-178936150-T-C c.1664+28T>C - IntronicSNV - 10/20 1
3-178936153-T-C c.1664+31T>C - IntronicSNV - 10/20 1
3-178936159-T-C c.1664+37T>C - IntronicSNV - 10/20 1
3-178936168-G-A c.1664+46G>A - IntronicSNV - 10/20 1
3-178936213-C-T c.1664+91C>T - IntronicSNV - 10/20 2
3-178936227-T-G c.1664+105T>G - IntronicSNV - 10/20 8
3-178936484-G-A c.1664+362G>A - IntronicSNV - 10/20 1
3-178936994-TGTA-T c.1675_1677del p.V559del InFrameDeletion 11/21 - 1
3-178936994-G-A c.1675G>A p.V559I Missense 11/21 - 1
3-178936995-TA-AC c.1676_1677delinsAC p.V559D Missense 11/21 - 1
3-178936995-T-G c.1676T>G p.V559G Missense 11/21 - 1
3-178936995-T-C c.1676T>C p.V559A Missense 11/21 - 2
3-178936997-AC-GA c.1678_1679delinsGA p.T560D Missense 11/21 - 1
3-178936997-A-G c.1678A>G p.T560A Missense 11/21 - 3
3-178936997-ACT-GAG c.1678_1680delinsGAG p.T560E Missense 11/21 - 1
3-178937006-G-A c.1687G>A p.E563K Missense 11/21 - 3
3-178937007-A-G c.1688A>G p.E563G Missense 11/21 - 1
3-178937009-A-G c.1690A>G p.I564V Missense 11/21 - 1
3-178937012-CTA-TTT c.1693_1695delinsTTT p.L565F Missense 11/21 - 1
3-178937012-C-CT c.1694dup p.P566Tfs*8 Frameshift 11/21 - 1
3-178937015-C-CATTACTAG c.1696_1697insATTACTAG p.P566Hfs*3 Frameshift 11/21 - 1
3-178937017-C-T c.1698C>T p.P566= Synonymous 11/21 - 1
3-178937017-C-G c.1698C>G p.P566= Synonymous 11/21 - 1
3-178937017-C-A c.1698C>A p.P566= Synonymous 11/21 - 1
3-178937018-A-G c.1699A>G p.K567E Missense 11/21 - 3
3-178937019-A-G c.1700A>G p.K567R Missense 11/21 - 5
3-178937027-TCTG-T c.1708_1710del p.L570del InFrameDeletion 11/21 - 1
3-178937025-TTCTGTCTGTTAAATGGAA-T c.1708_1725del p.L570_N575del InFrameDeletion 11/21 - 1
3-178937028-T-C c.1709T>C p.L570P Missense 11/21 - 1
3-178937030-T-G c.1711T>G p.S571A Missense 11/21 - 2
3-178937030-TCT-GAG c.1711_1713delinsGAG p.S571E Missense 11/21 - 1
3-178937030-GT-G c.1711del p.S571Lfs*10 Frameshift 11/21 - 1
3-178937036-A-T c.1717A>T p.K573* Nonsense 11/21 - 1
3-178937040-G-T c.1721G>T p.W574L Missense 11/21 - 1
3-178937044-T-G c.1725T>G p.N575K Missense 11/21 - 1
3-178937044-T-A c.1725T>A p.N575K Missense 11/21 - 1
3-178937045-T-G c.1726T>G p.S576A Missense 11/21 - 1
3-178937046-CT-AA c.1727_1728delinsAA p.S576* Nonsense 11/21 - 1
3-178937048-A-T c.1729A>T p.R577* Nonsense 11/21 - 1
3-178937048-A-G c.1729A>G p.R577G Missense 11/21 - 1
3-178937049-G-C c.1730G>C p.R577T Missense 11/21 - 1
3-178937054-G-A c.1735G>A p.E579K Missense 11/21 - 3
3-178937057-G-C c.1738G>C p.V580L Missense 11/21 - 1
3-178937057-G-T c.1738G>T p.V580L Missense 11/21 - 1
3-178937060-G-T c.1741G>T p.A581S Missense 11/21 - 2
3-178937065-G-T c.1746G>T p.Q582H Missense 11/21 - 1
3-178937065-G-C c.1746G>C p.Q582H Missense 11/21 - 1
3-178937346-T-C c.1747-13T>C - IntronicSNV - 11/20 1
3-178937359-A-G c.1747A>G p.M583V Missense 12/21 - 1
3-178937360-ATGT-A c.1748_1750del p.M583_Y584delinsN SpliceAcceptorDeletion 12/21 - 1
3-178937365-TG-GC c.1753_1754delinsGC p.C585A Missense 12/21 - 1
3-178937375-AA-TG c.1763_1764delinsTG p.K588M Missense 12/21 - 1
3-178937381-G-C c.1769G>C p.W590S Missense 12/21 - 1
3-178937383-C-G c.1771C>G p.P591A Missense 12/21 - 1
3-178937382-G-GC c.1772dup p.P592Sfs*5 Frameshift 12/21 - 1
3-178937388-A-T c.1776A>T p.P592= Synonymous 12/21 - 1
3-178937388-A-G c.1776A>G p.P592= Synonymous 12/21 - 1
3-178937388-A-C c.1776A>C p.P592= Synonymous 12/21 - 1
3-178937393-A-G c.1781A>G p.K594R Missense 12/21 - 1
3-178937394-A-C c.1782A>C p.K594N Missense 12/21 - 3
3-178937394-A-T c.1782A>T p.K594N Missense 12/21 - 3
3-178937396-C-A c.1784C>A p.P595H Missense 12/21 - 2
3-178937398-G-C c.1786G>C p.E596Q Missense 12/21 - 2
3-178937399-A-T c.1787A>T p.E596V Missense 12/21 - 1
3-178937400-A-G c.1788A>G p.E596= Synonymous 12/21 - 2
3-178937401-C-T c.1789C>T p.Q597* Nonsense 12/21 - 1
3-178937401-CA-GC c.1789_1790delinsGC p.Q597A Missense 12/21 - 1
3-178937402-AG-A c.1792del p.A598Lfs*26 Frameshift 12/21 - 1
3-178937406-T-G c.1794T>G p.A598= Synonymous 12/21 - 1
3-178937406-T-A c.1794T>A p.A598= Synonymous 12/21 - 1
3-178937406-T-C c.1794T>C p.A598= Synonymous 12/21 - 1
3-178937410-GAA-TGG c.1798_1800delinsTGG p.E600W Missense 12/21 - 2
3-178937410-G-A c.1798G>A p.E600K Missense 12/21 - 5
3-178937411-A-C c.1799A>C p.E600A Missense 12/21 - 1
3-178937411-A-T c.1799A>T p.E600V Missense 12/21 - 5
3-178937412-A-G c.1800A>G p.E600= Synonymous 12/21 - 1
3-178937413-CTT-GAG c.1801_1803delinsGAG p.L601E Missense 12/21 - 1
3-178937420-A-G c.1808A>G p.D603G Missense 12/21 - 1
3-178937422-T-C c.1810T>C p.C604R Missense 12/21 - 8
3-178937429-A-G c.1817A>G p.Y606C Missense 12/21 - 1
3-178937429-A-T c.1817A>T p.Y606F Missense 12/21 - 1
3-178937430-C-A c.1818C>A p.Y606* Nonsense 12/21 - 1
3-178937430-C-G c.1818C>G p.Y606* Nonsense 12/21 - 1
3-178937434-GA-CG c.1822_1823delinsCG p.D608R Missense 12/21 - 1
3-178937435-A-C c.1823A>C p.D608A Missense 12/21 - 6
3-178937440-A-G c.1828A>G p.M610V Missense 12/21 - 1
3-178937446-C-T c.1834C>T p.R612* Nonsense 12/21 - 2
3-178937447-GA-AT c.1835_1836delinsAT p.R612H Missense 12/21 - 1
3-178937450-G-A c.1838G>A p.G613D Missense 12/21 - 1
3-178937452-T-A c.1840T>A p.F614I Missense 12/21 - 3
3-178937456-C-T c.1844C>T p.A615V Missense 12/21 - 1
3-178937458-GT-G c.1848del p.R617Gfs*7 Frameshift 12/21 - 1
3-178937461-C-T c.1849C>T p.R617W Missense 12/21 - 2
3-178937468-TG-CA c.1856_1857inv p.L619S Missense 12/21 - 1
3-178937470-G-A c.1858G>A p.E620K Missense 12/21 - 1
3-178937473-A-G c.1861A>G p.K621E Missense 12/21 - 1
3-178937474-A-G c.1862A>G p.K621R Missense 12/21 - 1
3-178937474-AA-TG c.1862_1863delinsTG p.K621M Missense 12/21 - 1
3-178937482-ACA-GAC c.1870_1872delinsGAC p.T624D Missense 12/21 - 1
3-178937482-A-G c.1870A>G p.T624A Missense 12/21 - 2
3-178937483-C-A c.1871C>A p.T624K Missense 12/21 - 1
3-178937491-AA-GC c.1879_1880delinsGC p.K627A Missense 12/21 - 1
3-178937494-C-T c.1882C>T p.L628F Missense 12/21 - 1
3-178937497-T-C c.1885T>C p.S629P Missense 12/21 - 1
3-178937497-T-G c.1885T>G p.S629A Missense 12/21 - 1
3-178937498-C-G c.1886C>G p.S629C Missense 12/21 - 1
3-178937498-C-T c.1886C>T p.S629F Missense 12/21 - 1
3-178937506-TT-CC c.1894_1895delinsCC p.L632P Missense 12/21 - 1
3-178937507-T-G c.1895T>G p.L632* Nonsense 12/21 - 1
3-178937516-T-G c.1904T>G p.L635R Missense 12/21 - 1
3-178937518-G-C c.1906G>C p.V636L Missense 12/21 - 2
3-178937518-G-T c.1906G>T p.V636L Missense 12/21 - 2
3-178937518-G-GC c.1906_1907insC p.V636Afs*7 Frameshift 12/21 - 1
3-178937520-A-G c.1908A>G p.V636= Synonymous 12/21 - 1
3-178937522-A-C c.1910A>C p.Q637P Missense 12/21 - 1
3-178937534-G-T c.1911+11G>T - IntronicSNV - 12/20 1
3-178937737-GTC-ATG c.1912_1914delinsATG p.V638M Missense 13/21 - 1
3-178937738-T-C c.1913T>C p.V638A Missense 13/21 - 2
3-178937741-T-C c.1916T>C p.L639P Missense 13/21 - 1
3-178937743-A-G c.1918A>G p.K640E Missense 13/21 - 1
3-178937746-T-A c.1921T>A p.Y641N Missense 13/21 - 6
3-178937746-T-C c.1921T>C p.Y641H Missense 13/21 - 3
3-178937746-T-G c.1921T>G p.Y641D Missense 13/21 - 1
3-178937747-A-T c.1922A>T p.Y641F Missense 13/21 - 10
3-178937747-A-G c.1922A>G p.Y641C Missense 13/21 - 3
3-178937747-A-C c.1922A>C p.Y641S Missense 13/21 - 4
3-178937748-T-A c.1923T>A p.Y641* Nonsense 13/21 - 1
3-178937748-T-G c.1923T>G p.Y641* Nonsense 13/21 - 1
3-178937749-G-A c.1924G>A p.E642K Missense 13/21 - 1
3-178937753-A-G c.1928A>G p.Q643R Missense 13/21 - 1
3-178937754-A-C c.1929A>C p.Q643H Missense 13/21 - 1
3-178937754-A-T c.1929A>T p.Q643H Missense 13/21 - 1
3-178937755-T-C c.1930T>C p.Y644H Missense 13/21 - 5
3-178937760-G-A c.1935G>A p.L645= Synonymous 13/21 - 1
3-178937758-T-C c.1933T>C p.L645= Synonymous 13/21 - 1
3-178937759-T-C c.1934T>C p.L645S Missense 13/21 - 1
3-178937764-AAC-CAA c.1939_1941delinsCAA p.N647Q Missense 13/21 - 1
3-178937766-C-CT c.1943dup p.L648Ffs*13 Frameshift 13/21 - 1
3-178937770-C-T c.1945C>T p.L649F Missense 13/21 - 1
3-178937770-C-A c.1945C>A p.L649I Missense 13/21 - 1
3-178937773-G-A c.1948G>A p.V650M Missense 13/21 - 2
3-178937776-AGA-TGT c.1951_1953delinsTGT p.R651C Missense 13/21 - 1
3-178937779-TT-GC c.1954_1955delinsGC p.F652A Missense 13/21 - 1
3-178937778-A-AT c.1958dup p.L653Ffs*8 Frameshift 13/21 - 1
3-178937785-C-T c.1960C>T p.L654= Synonymous 13/21 - 1
3-178937788-A-G c.1963A>G p.K655E Missense 13/21 - 1
3-178937790-G-T c.1965G>T p.K655N Missense 13/21 - 1
3-178937791-A-G c.1966A>G p.K656E Missense 13/21 - 1
3-178937792-AA-TG c.1967_1968delinsTG p.K656M Missense 13/21 - 2
3-178937793-A-C c.1968A>C p.K656N Missense 13/21 - 2
3-178937793-A-T c.1968A>T p.K656N Missense 13/21 - 2
3-178937794-G-GTGGA c.1969_1970insTGGA p.A657Vfs*5 Frameshift 13/21 - 1
3-178937797-T-C c.1972T>C p.L658= Synonymous 13/21 - 1
3-178937799-G-A c.1974G>A p.L658= Synonymous 13/21 - 1
3-178937798-T-C c.1973T>C p.L658S Missense 13/21 - 1
3-178937802-TA-T c.1979del p.N660Ifs*12 Frameshift 13/21 - 1
3-178937806-C-A c.1981C>A p.Q661K Missense 13/21 - 2
3-178937811-G-C c.1986G>C p.R662S Missense 13/21 - 1
3-178937818-C-G c.1993C>G p.H665D Missense 13/21 - 1
3-178937821-T-C c.1996T>C p.F666L Missense 13/21 - 2
3-178937823-T-A c.1998T>A p.F666L Missense 13/21 - 2
3-178937823-T-G c.1998T>G p.F666L Missense 13/21 - 2
3-178937822-T-C c.1997T>C p.F666S Missense 13/21 - 1
3-178937824-T-C c.1999T>C p.F667L Missense 13/21 - 2
3-178937826-C-A c.2001C>A p.F667L Missense 13/21 - 2
3-178937825-T-G c.2000T>G p.F667C Missense 13/21 - 1
3-178937826-C-G c.2001C>G p.F667L Missense 13/21 - 3
3-178937838-A-G c.2013A>G p.L671= Synonymous 13/21 - 1
3-178937836-T-C c.2011T>C p.L671= Synonymous 13/21 - 1
3-178937839-AA-GC c.2014_2015delinsGC p.K672A Missense 13/21 - 1
3-178938775-T-A c.2017T>A p.S673T Missense 14/21 - 1
3-178938778-G-C c.2020G>C p.E674Q Missense 14/21 - 3
3-178938779-A-G c.2021A>G p.E674G Missense 14/21 - 1
3-178938783-G-C c.2025G>C p.M675I Missense 14/21 - 1
3-178938783-G-A c.2025G>A p.M675I Missense 14/21 - 1
3-178938783-G-T c.2025G>T p.M675I Missense 14/21 - 1
3-178938790-A-G c.2032A>G p.K678E Missense 14/21 - 1
3-178938791-AA-TG c.2033_2034delinsTG p.K678M Missense 14/21 - 2
3-178938793-A-G c.2035A>G p.T679A Missense 14/21 - 1
3-178938796-G-C c.2038G>C p.V680L Missense 14/21 - 1
3-178938800-G-A c.2042G>A p.S681N Missense 14/21 - 1
3-178938800-G-T c.2042G>T p.S681I Missense 14/21 - 2
3-178938811-G-A c.2053G>A p.G685S Missense 14/21 - 1
3-178938812-G-A c.2054G>A p.G685D Missense 14/21 - 1
3-178938817-C-T c.2059C>T p.L687F Missense 14/21 - 1
3-178938822-G-T c.2064G>T p.L688F Missense 14/21 - 1
3-178938822-G-C c.2064G>C p.L688F Missense 14/21 - 1
3-178938823-G-A c.2065G>A p.E689K Missense 14/21 - 1
3-178938826-T-G c.2068T>G p.S690A Missense 14/21 - 1
3-178938833-TG-T c.2075del p.C692Ffs*8 Frameshift 14/21 - 1
3-178938833-G-T c.2075G>T p.C692F Missense 14/21 - 1
3-178938835-C-T c.2077C>T p.R693C Missense 14/21 - 1
3-178938836-G-A c.2078G>A p.R693H Missense 14/21 - 3
3-178938838-G-A c.2080G>A p.A694T Missense 14/21 - 1
3-178938838-G-T c.2080G>T p.A694S Missense 14/21 - 1
3-178938839-C-T c.2081C>T p.A694V Missense 14/21 - 1
3-178938841-T-C c.2083T>C p.C695R Missense 14/21 - 1
3-178938842-G-A c.2084G>A p.C695Y Missense 14/21 - 1
3-178938844-G-A c.2086G>A p.G696R Missense 14/21 - 2
3-178938847-A-T c.2089A>T p.M697L Missense 14/21 - 1
3-178938849-G-A c.2091G>A p.M697I Missense 14/21 - 1
3-178938856-A-G c.2098A>G p.K700E Missense 14/21 - 5
3-178938860-A-C c.2102A>C p.H701P Missense 14/21 - 19
3-178938862-C-T c.2104C>T p.L702= Synonymous 14/21 - 1
3-178938863-TG-AT c.2105_2106delinsAT p.L702H Missense 14/21 - 34
3-178938866-A-G c.2108A>G p.N703S Missense 14/21 - 1
3-178938864-GA-G c.2108del p.N703Ifs*13 Frameshift 14/21 - 1
3-178938868-A-T c.2110A>T p.R704W Missense 14/21 - 1
3-178938868-AGG-TGT c.2110_2112delinsTGT p.R704C Missense 14/21 - 1
3-178938871-C-A c.2113C>A p.Q705K Missense 14/21 - 3
3-178938873-A-C c.2115A>C p.Q705H Missense 14/21 - 1
3-178938873-A-G c.2115A>G p.Q705= Synonymous 14/21 - 1
3-178938873-A-T c.2115A>T p.Q705H Missense 14/21 - 1
3-178938877-G-A c.2119G>A p.E707K Missense 14/21 - 15
3-178938880-G-C c.2122G>C p.A708P Missense 14/21 - 1
3-178938883-A-G c.2125A>G p.M709V Missense 14/21 - 1
3-178938883-A-T c.2125A>T p.M709L Missense 14/21 - 1
3-178938884-T-C c.2126T>C p.M709T Missense 14/21 - 1
3-178938886-G-A c.2128G>A p.E710K Missense 14/21 - 1
3-178938887-A-G c.2129A>G p.E710G Missense 14/21 - 1
3-178938890-A-G c.2132A>G p.K711R Missense 14/21 - 1
3-178938890-A-T c.2132A>T p.K711M Missense 14/21 - 1
3-178938896-T-C c.2138T>C p.I713T Missense 14/21 - 1
3-178938905-CT-TG c.2147_2148delinsTG p.T716M Missense 14/21 - 1
3-178938905-C-T c.2147C>T p.T716I Missense 14/21 - 2
3-178938906-T-C c.2148T>C p.T716= Synonymous 14/21 - 1
3-178938908-A-G c.2150A>G p.D717G Missense 14/21 - 1
3-178938910-A-T c.2152A>T p.I718F Missense 14/21 - 1
3-178938913-C-G c.2155C>G p.L719V Missense 14/21 - 3
3-178938913-C-T c.2155C>T p.L719F Missense 14/21 - 1
3-178938916-A-G c.2158A>G p.K720E Missense 14/21 - 2
3-178938917-A-G c.2159A>G p.K720R Missense 14/21 - 1
3-178938918-A-G c.2160A>G p.K720= Synonymous 14/21 - 1
3-178938914-TCAAACAGGAGAAGAAGGATGAAACA-T c.2161_2185del p.Q721Rfs*4 Frameshift 14/21 - 1
3-178938919-C-A c.2161C>A p.Q721K Missense 14/21 - 1
3-178938920-A-T c.2162A>T p.Q721L Missense 14/21 - 1
3-178938922-G-A c.2164G>A p.E722K Missense 14/21 - 4
3-178938919-CAGG-C c.2164_2166del p.E722del InFrameDeletion 14/21 - 1
3-178938923-A-C c.2165A>C p.E722A Missense 14/21 - 1
3-178938924-G-C c.2166G>C p.E722D Missense 14/21 - 1
3-178938924-G-T c.2166G>T p.E722D Missense 14/21 - 1
3-178938926-A-T c.2168A>T p.K723M Missense 14/21 - 1
3-178938928-A-G c.2170A>G p.K724E Missense 14/21 - 1
3-178938930-G-C c.2172G>C p.K724N Missense 14/21 - 1
3-178938930-G-T c.2172G>T p.K724N Missense 14/21 - 1
3-178938931-G-A c.2173G>A p.D725N Missense 14/21 - 3
3-178938932-A-G c.2174A>G p.D725G Missense 14/21 - 2
3-178938934-G-A c.2176G>A p.E726K Missense 14/21 - 98
3-178938935-A-C c.2177A>C p.E726A Missense 14/21 - 1
3-178938935-A-G c.2177A>G p.E726G Missense 14/21 - 2
3-178938937-A-G c.2179A>G p.T727A Missense 14/21 - 1
3-178938938-C-T c.2180C>T p.T727I Missense 14/21 - 2
3-178938938-C-A c.2180C>A p.T727K Missense 14/21 - 2
3-178941323-A-G c.2188-546A>G - IntronicSNV - 14/20 1
3-178941869-GTA-ATG c.2188_2190delinsATG p.V730M Missense 15/21 - 3
3-178941870-T-C c.2189T>C p.V730A Missense 15/21 - 1
3-178941875-A-G c.2194A>G p.M732V Missense 15/21 - 1
3-178941879-A-G c.2198A>G p.K733R Missense 15/21 - 6
3-178941890-GA-TC c.2209_2210inv p.E737S Missense 15/21 - 1
3-178941890-G-C c.2209G>C p.E737Q Missense 15/21 - 1
3-178941890-G-A c.2209G>A p.E737K Missense 15/21 - 1
3-178941894-A-G c.2213A>G p.Q738R Missense 15/21 - 1
3-178941898-G-T c.2217G>T p.M739I Missense 15/21 - 1
3-178941903-GA-AT c.2222_2223delinsAT p.R741H Missense 15/21 - 1
3-178941908-G-T c.2227G>T p.D743Y Missense 15/21 - 1
3-178941908-G-C c.2227G>C p.D743H Missense 15/21 - 1
3-178941908-G-A c.2227G>A p.D743N Missense 15/21 - 1
3-178941909-A-C c.2228A>C p.D743A Missense 15/21 - 1
3-178941911-TT-GC c.2230_2231delinsGC p.F744A Missense 15/21 - 1
3-178941911-T-A c.2230T>A p.F744I Missense 15/21 - 1
3-178941913-C-A c.2232C>A p.F744L Missense 15/21 - 1
3-178941916-TGGATGCTCTACAGGG-T c.2235_2249del p.M745_G750delinsI MultiAAMissense 15/21 - 3
3-178941917-GGATGCTCTACAGGGC-G c.2236_2250del p.D746_G750del InFrameDeletion 15/21 - 2
3-178941918-GATGCTCTACAGGGCT-G c.2237_2251del p.D746_F751delinsV MultiAAMissense 15/21 - 1
3-178941921-GCTCTACAGGGCTTTC-G c.2240_2254del p.A747_L752delinsV MultiAAMissense 15/21 - 1
3-178941920-GCTCTACAGGGCTTTCTGT-G c.2243_2260del p.L748_S753del InFrameDeletion 15/21 - 2
3-178941926-C-T c.2245C>T p.Q749* Nonsense 15/21 - 1
3-178941930-G-A c.2249G>A p.G750D Missense 15/21 - 1
3-178941938-T-C c.2257T>C p.S753P Missense 15/21 - 1
3-178941944-CT-TC c.2263_2264delinsTC p.L755S Missense 15/21 - 6
3-178941944-CTA-TGT c.2263_2265delinsTGT p.L755C Missense 15/21 - 1
3-178941944-C-G c.2263C>G p.L755V Missense 15/21 - 1
3-178941945-T-C c.2264T>C p.L755P Missense 15/21 - 6
3-178941947-A-G c.2266A>G p.N756D Missense 15/21 - 1
3-178941950-C-A c.2269C>A p.P757T Missense 15/21 - 1
3-178941954-C-T c.2273C>T p.A758V Missense 15/21 - 1
3-178941956-C-A c.2275C>A p.H759N Missense 15/21 - 1
3-178941958-T-A c.2277T>A p.H759Q Missense 15/21 - 1
3-178941959-C-T c.2278C>T p.Q760* Nonsense 15/21 - 1
3-178941960-A-T c.2279A>T p.Q760L Missense 15/21 - 1
3-178941962-C-A c.2281C>A p.L761I Missense 15/21 - 1
3-178941971-C-G c.2290C>G p.L764V Missense 15/21 - 1
3-178941972-T-C c.2291T>C p.L764P Missense 15/21 - 1
3-178941994-C-T c.2294+19C>T - IntronicSNV - 15/20 1
3-178942488-G-C c.2295G>C p.R765S Missense 16/21 - 1
3-178942488-G-T c.2295G>T p.R765S Missense 16/21 - 1
3-178942492-G-A c.2299G>A p.E767K Missense 16/21 - 1
3-178942495-G-T c.2302G>T p.E768* Nonsense 16/21 - 1
3-178942496-A-C c.2303A>C p.E768A Missense 16/21 - 1
3-178942500-T-G c.2307T>G p.C769W Missense 16/21 - 1
3-178942501-CG-GC c.2308_2309delinsGC p.R770A Missense 16/21 - 1
3-178942502-G-A c.2309G>A p.R770Q Missense 16/21 - 6
3-178942504-AT-TA c.2311_2312delinsTA p.I771Y Missense 16/21 - 1
3-178942504-AT-GC c.2311_2312delinsGC p.I771A Missense 16/21 - 1
3-178942504-A-C c.2311A>C p.I771L Missense 16/21 - 1
3-178942507-AT-GC c.2314_2315delinsGC p.M772A Missense 16/21 - 1
3-178942509-G-C c.2316G>C p.M772I Missense 16/21 - 1
3-178942509-G-A c.2316G>A p.M772I Missense 16/21 - 1
3-178942509-G-T c.2316G>T p.M772I Missense 16/21 - 1
3-178942510-T-G c.2317T>G p.S773A Missense 16/21 - 2
3-178942510-TC-GA c.2317_2318inv p.S773D Missense 16/21 - 1
3-178942513-T-G c.2320T>G p.S774A Missense 16/21 - 1
3-178942516-G-T c.2323G>T p.A775S Missense 16/21 - 1
3-178942517-C-T c.2324C>T p.A775V Missense 16/21 - 1
3-178942519-AA-GC c.2326_2327delinsGC p.K776A Missense 16/21 - 1
3-178942519-A-G c.2326A>G p.K776E Missense 16/21 - 2
3-178942520-AA-TG c.2327_2328delinsTG p.K776M Missense 16/21 - 1
3-178942522-AG-GC c.2329_2330delinsGC p.R777A Missense 16/21 - 1
3-178942522-AG-GA c.2329_2330delinsGA p.R777E Missense 16/21 - 1
3-178942523-G-A c.2330G>A p.R777K Missense 16/21 - 1
3-178942532-G-A c.2339G>A p.W780* Nonsense 16/21 - 2
3-178942538-A-T c.2345A>T p.N782I Missense 16/21 - 1
3-178942541-G-T c.2348G>T p.W783L Missense 16/21 - 1
3-178942548-C-G c.2355C>G p.N785K Missense 16/21 - 1
3-178942548-C-A c.2355C>A p.N785K Missense 16/21 - 1
3-178942562-C-T c.2369C>T p.S790L Missense 16/21 - 2
3-178942562-CA-TT c.2369_2370delinsTT p.S790F Missense 16/21 - 1
3-178942563-A-AT c.2370_2371insT p.E791* Nonsense 16/21 - 1
3-178942567-TTA-CAT c.2374_2376delinsCAT p.L792H Missense 16/21 - 1
3-178942567-T-C c.2374T>C p.L792= Synonymous 16/21 - 1
3-178942569-A-G c.2376A>G p.L792= Synonymous 16/21 - 1
3-178942569-A-T c.2376A>T p.L792F Missense 16/21 - 1
3-178942569-A-C c.2376A>C p.L792F Missense 16/21 - 1
3-178942573-TT-CG c.2380_2381delinsCG p.F794R Missense 16/21 - 1
3-178942583-A-T c.2390A>T p.N797I Missense 16/21 - 1
3-178942585-GAG-AAC c.2392_2394delinsAAC p.E798N Missense 16/21 - 2
3-178942585-G-C c.2392G>C p.E798Q Missense 16/21 - 3
3-178942586-A-G c.2393A>G p.E798G Missense 16/21 - 1
3-178942591-A-C c.2398A>C p.I800L Missense 16/21 - 17
3-178942593-C-G c.2400C>G p.I800M Missense 16/21 - 3
3-178942598-A-C c.2405A>C p.K802T Missense 16/21 - 3
3-178942600-AA-GC c.2407_2408delinsGC p.N803A Missense 16/21 - 1
3-178942602-AT-A c.2409del p.N803Kfs*10 Frameshift 16/21 - 1
3-178942606-G-A c.2413G>A p.D805N Missense 16/21 - 1
3-178942615-G-A c.2416+6G>A - IntronicSNV - 16/20 1
3-178943068-A-G c.2416+459A>G - IntronicSNV - 16/20 1
3-178943754-A-T c.2421A>T p.L807F Missense 17/21 - 1
3-178943755-C-T c.2422C>T p.R808W Missense 17/21 - 1
3-178943756-G-A c.2423G>A p.R808Q Missense 17/21 - 3
3-178943762-A-C c.2429A>C p.D810A Missense 17/21 - 1
3-178943765-T-C c.2432T>C p.M811T Missense 17/21 - 1
3-178943773-CT-TG c.2440_2441delinsTG p.L814C Missense 17/21 - 3
3-178943779-A-G c.2446A>G p.I816V Missense 17/21 - 1
3-178943780-T-C c.2447T>C p.I816T Missense 17/21 - 1
3-178943783-T-A c.2450T>A p.I817N Missense 17/21 - 1
3-178943785-C-T c.2452C>T p.R818C Missense 17/21 - 1
3-178943786-G-A c.2453G>A p.R818H Missense 17/21 - 2
3-178943791-AT-GC c.2458_2459delinsGC p.M820A Missense 17/21 - 1
3-178943797-A-T c.2464A>T p.N822Y Missense 17/21 - 1
3-178943798-A-T c.2465A>T p.N822I Missense 17/21 - 1
3-178943799-T-G c.2466T>G p.N822K Missense 17/21 - 3
3-178943799-T-A c.2466T>A p.N822K Missense 17/21 - 3
3-178943805-G-T c.2472G>T p.W824C Missense 17/21 - 1
3-178943805-G-C c.2472G>C p.W824C Missense 17/21 - 1
3-178943815-G-T c.2482G>T p.G828C Missense 17/21 - 1
3-178943818-C-A c.2485C>A p.L829I Missense 17/21 - 1
3-178943821-G-T c.2488G>T p.D830Y Missense 17/21 - 1
3-178943824-C-G c.2491C>G p.L831V Missense 17/21 - 1
3-178943828-G-T c.2495G>T p.R832L Missense 17/21 - 1
3-178943828-G-A c.2495G>A p.R832Q Missense 17/21 - 2
3-178947063-G-A c.2499G>A p.M833I Missense 18/21 - 1
3-178947064-TT-AG c.2500_2501delinsAG p.L834R Missense 18/21 - 8
3-178947068-C-T c.2504C>T p.P835L Missense 18/21 - 1
3-178947070-TA-GC c.2506_2507delinsGC p.Y836A Missense 18/21 - 1
3-178947070-TAT-ATG c.2506_2508delinsATG p.Y836M Missense 18/21 - 1
3-178947071-A-T c.2507A>T p.Y836F Missense 18/21 - 1
3-178947073-G-T c.2509G>T p.G837C Missense 18/21 - 1
3-178947074-G-T c.2510G>T p.G837V Missense 18/21 - 1
3-178947078-T-G c.2514T>G p.C838W Missense 18/21 - 1
3-178947079-TC-T c.2515del p.L839Cfs*28 Frameshift 18/21 - 1
3-178947080-T-G c.2516T>G p.L839R Missense 18/21 - 1
3-178947081-G-A c.2517G>A p.L839= Synonymous 18/21 - 1
3-178947082-T-G c.2518T>G p.S840A Missense 18/21 - 1
3-178947085-A-G c.2521A>G p.I841V Missense 18/21 - 1
3-178947088-G-A c.2524G>A p.G842S Missense 18/21 - 2
3-178947091-G-T c.2527G>T p.D843Y Missense 18/21 - 1
3-178947093-C-G c.2529C>G p.D843E Missense 18/21 - 1
3-178947093-C-A c.2529C>A p.D843E Missense 18/21 - 1
3-178947094-TG-AC c.2530_2531delinsAC p.C844T Missense 18/21 - 2
3-178947095-G-A c.2531G>A p.C844Y Missense 18/21 - 2
3-178947096-T-C c.2532T>C p.C844= Synonymous 18/21 - 1
3-178947101-G-T c.2537G>T p.G846V Missense 18/21 - 1
3-178947106-A-G c.2542A>G p.I848V Missense 18/21 - 2
3-178947106-AT-GG c.2542_2543delinsGG p.I848G Missense 18/21 - 1
3-178947106-A-C c.2542A>C p.I848L Missense 18/21 - 1
3-178947106-AT-GC c.2542_2543delinsGC p.I848A Missense 18/21 - 1
3-178947107-T-G c.2543T>G p.I848S Missense 18/21 - 1
3-178947110-A-C c.2546A>C p.E849A Missense 18/21 - 2
3-178947110-A-G c.2546A>G p.E849G Missense 18/21 - 1
3-178947115-G-A c.2551G>A p.V851M Missense 18/21 - 1
3-178947118-CG-GC c.2554_2555delinsGC p.R852A Missense 18/21 - 1
3-178947119-G-A c.2555G>A p.R852Q Missense 18/21 - 1
3-178947121-AA-GC c.2557_2558delinsGC p.N853A Missense 18/21 - 1
3-178947124-TC-CT c.2560_2561delinsCT p.S854L Missense 18/21 - 1
3-178947127-CAC-GAG c.2563_2565delinsGAG p.H855E Missense 18/21 - 2
3-178947127-CA-GC c.2563_2564delinsGC p.H855A Missense 18/21 - 1
3-178947131-C-T c.2567C>T p.T856I Missense 18/21 - 1
3-178947137-T-G c.2573T>G p.M858R Missense 18/21 - 1
3-178947139-CAA-GAC c.2575_2577delinsGAC p.Q859D Missense 18/21 - 3
3-178947139-CA-GC c.2575_2576delinsGC p.Q859A Missense 18/21 - 1
3-178947139-C-G c.2575C>G p.Q859E Missense 18/21 - 1
3-178947146-A-G c.2582A>G p.Q861R Missense 18/21 - 1
3-178947148-TG-AC c.2584_2585delinsAC p.C862T Missense 18/21 - 1
3-178947148-TG-GC c.2584_2585delinsGC p.C862A Missense 18/21 - 1
3-178947148-T-A c.2584T>A p.C862S Missense 18/21 - 1
3-178947149-G-C c.2585G>C p.C862S Missense 18/21 - 1
3-178947157-G-A c.2593G>A p.G865S Missense 18/21 - 1
3-178947158-G-A c.2594G>A p.G865D Missense 18/21 - 1
3-178947161-T-G c.2597T>G p.L866W Missense 18/21 - 1
3-178947162-G-T c.2598G>T p.L866F Missense 18/21 - 1
3-178947162-G-C c.2598G>C p.L866F Missense 18/21 - 2
3-178947163-AA-GC c.2599_2600delinsGC p.K867A Missense 18/21 - 1
3-178947174-G-A c.2610G>A p.L870= Synonymous 18/21 - 1
3-178947178-T-C c.2614T>C p.F872L Missense 18/21 - 1
3-178947180-C-A c.2616C>A p.F872L Missense 18/21 - 1
3-178947180-C-G c.2616C>G p.F872L Missense 18/21 - 1
3-178947185-G-A c.2621G>A p.S874N Missense 18/21 - 1
3-178947187-C-T c.2623C>T p.H875Y Missense 18/21 - 30
3-178947187-CA-AC c.2623_2624delinsAC p.H875T Missense 18/21 - 2
3-178947187-CAC-TGG c.2623_2625delinsTGG p.H875W Missense 18/21 - 1
3-178947189-C-T c.2625C>T p.H875= Synonymous 18/21 - 2
3-178947196-CA-GC c.2632_2633delinsGC p.H878A Missense 18/21 - 1
3-178947196-C-T c.2632C>T p.H878Y Missense 18/21 - 2
3-178947199-C-T c.2635C>T p.Q879* Nonsense 18/21 - 1
3-178947199-C-A c.2635C>A p.Q879K Missense 18/21 - 1
3-178947209-A-G c.2645A>G p.K882R Missense 18/21 - 1
3-178947219-C-G c.2655C>G p.N885K Missense 18/21 - 1
3-178947226-G-T c.2662G>T p.E888* Nonsense 18/21 - 1
3-178947230-T-C c.2666T>C p.I889T Missense 18/21 - 1
3-178947325-A-C c.2666+95A>C - IntronicSNV - 18/20 5
3-178947793-T-C c.2668T>C p.Y890H Missense 19/21 - 1
3-178947794-A-G c.2669A>G p.Y890C Missense 19/21 - 1
3-178947795-T-A c.2670T>A p.Y890* Nonsense 19/21 - 1
3-178947795-T-G c.2670T>G p.Y890* Nonsense 19/21 - 1
3-178947796-G-C c.2671G>C p.D891H Missense 19/21 - 2
3-178947796-G-A c.2671G>A p.D891N Missense 19/21 - 1
3-178947797-A-T c.2672A>T p.D891V Missense 19/21 - 2
3-178947801-A-G c.2676A>G p.A892= Synonymous 19/21 - 1
3-178947809-A-G c.2684A>G p.D895G Missense 19/21 - 1
3-178947811-C-G c.2686C>G p.L896V Missense 19/21 - 1
3-178947814-T-C c.2689T>C p.F897L Missense 19/21 - 1
3-178947814-T-G c.2689T>G p.F897V Missense 19/21 - 1
3-178947818-C-T c.2693C>T p.T898I Missense 19/21 - 1
3-178947820-C-T c.2695C>T p.R899C Missense 19/21 - 2
3-178947823-T-G c.2698T>G p.S900A Missense 19/21 - 1
3-178947826-T-C c.2701T>C p.C901R Missense 19/21 - 1
3-178947827-G-A c.2702G>A p.C901Y Missense 19/21 - 1
3-178947827-G-T c.2702G>T p.C901F Missense 19/21 - 25
3-178947832-G-A c.2707G>A p.G903R Missense 19/21 - 2
3-178947832-G-C c.2707G>C p.G903R Missense 19/21 - 2
3-178947836-A-G c.2711A>G p.Y904C Missense 19/21 - 1
3-178947838-T-A c.2713T>A p.C905S Missense 19/21 - 2
3-178947839-G-C c.2714G>C p.C905S Missense 19/21 - 2
3-178947840-T-C c.2715T>C p.C905= Synonymous 19/21 - 1
3-178947844-G-A c.2719G>A p.A907T Missense 19/21 - 1
3-178947847-A-G c.2722A>G p.T908A Missense 19/21 - 1
3-178947852-C-A c.2727C>A p.F909L Missense 19/21 - 7
3-178947852-C-G c.2727C>G p.F909L Missense 19/21 - 7
3-178947850-T-C c.2725T>C p.F909L Missense 19/21 - 7
3-178947851-T-G c.2726T>G p.F909C Missense 19/21 - 2
3-178947851-T-C c.2726T>C p.F909S Missense 19/21 - 1
3-178947852-C-T c.2727C>T p.F909= Synonymous 19/21 - 1
3-178947858-G-T c.2733G>T p.L911F Missense 19/21 - 2
3-178947858-G-C c.2733G>C p.L911F Missense 19/21 - 1
3-178947859-G-A c.2734G>A p.G912R Missense 19/21 - 1
3-178947859-G-C c.2734G>C p.G912R Missense 19/21 - 1
3-178947860-GA-AC c.2735_2736delinsAC p.G912D Missense 19/21 - 1
3-178947860-G-A c.2735G>A p.G912E Missense 19/21 - 1
3-178947863-T-G c.2738T>G p.I913S Missense 19/21 - 1
3-178947864-T-G c.2739T>G p.I913M Missense 19/21 - 1
3-178947865-G-A c.2740G>A p.G914R Missense 19/21 - 29
3-178947865-G-C c.2740G>C p.G914R Missense 19/21 - 11
3-178947868-G-A c.2743G>A p.D915N Missense 19/21 - 1
3-178947871-C-T c.2746C>T p.R916C Missense 19/21 - 1
3-178947872-G-C c.2747G>C p.R916P Missense 19/21 - 2
3-178947872-G-A c.2747G>A p.R916H Missense 19/21 - 1
3-178947874-C-A c.2749C>A p.H917N Missense 19/21 - 1
3-178947874-CA-GC c.2749_2750delinsGC p.H917A Missense 19/21 - 1
3-178947877-A-G c.2752A>G p.N918D Missense 19/21 - 1
3-178947891-G-A c.2766G>A p.M922I Missense 19/21 - 1
3-178947901-G-A c.2776G>A p.D926N Missense 19/21 - 2
3-178947904-G-A c.2779G>A p.G927R Missense 19/21 - 1
3-178947904-G-C c.2779G>C p.G927R Missense 19/21 - 1
3-178947967-G-A c.2785-46G>A - IntronicSNV - 19/20 1
3-178947967-G-C c.2785-46G>C - IntronicSNV - 19/20 1
3-178948013-CT-TC c.2785_2786delinsTC p.L929S Missense 20/21 - 1
3-178948014-T-G c.2786T>G p.L929R Missense 20/21 - 2
3-178948017-T-C c.2789T>C p.F930S Missense 20/21 - 2
3-178948019-C-T c.2791C>T p.H931Y Missense 20/21 - 1
3-178948020-A-G c.2792A>G p.H931R Missense 20/21 - 1
3-178948026-A-C c.2798A>C p.D933A Missense 20/21 - 33
3-178948029-T-C c.2801T>C p.F934S Missense 20/21 - 1
3-178948031-G-A c.2803G>A p.G935R Missense 20/21 - 1
3-178948031-G-C c.2803G>C p.G935R Missense 20/21 - 1
3-178948034-CA-GC c.2806_2807delinsGC p.H936A Missense 20/21 - 1
3-178948036-CT-C c.2813del p.L938Wfs*19 Frameshift 20/21 - 1
3-178948041-T-A c.2813T>A p.L938* Nonsense 20/21 - 1
3-178948043-G-A c.2815G>A p.D939N Missense 20/21 - 1
3-178948044-A-G c.2816A>G p.D939G Missense 20/21 - 11
3-178948052-A-C c.2824A>C p.K942Q Missense 20/21 - 1
3-178948053-A-T c.2825A>T p.K942M Missense 20/21 - 1
3-178948059-A-C c.2831A>C p.K944T Missense 20/21 - 1
3-178948060-A-C c.2832A>C p.K944N Missense 20/21 - 1
3-178948060-A-T c.2832A>T p.K944N Missense 20/21 - 2
3-178948065-G-A c.2837G>A p.G946D Missense 20/21 - 1
3-178948069-T-TATA c.2842_2843insTAA p.Y947_K948insI InFrameInsertion 20/21 - 1
3-178948073-CGA-TGT c.2845_2847delinsTGT p.R949C Missense 20/21 - 1
3-178948073-CGA-GAC c.2845_2847delinsGAC p.R949D Missense 20/21 - 1
3-178948076-G-A c.2848G>A p.E950K Missense 20/21 - 1
3-178948083-T-G c.2855T>G p.V952G Missense 20/21 - 1
3-178948083-T-C c.2855T>C p.V952A Missense 20/21 - 1
3-178948086-C-T c.2858C>T p.P953L Missense 20/21 - 1
3-178948091-G-A c.2863G>A p.V955I Missense 20/21 - 2
3-178948092-T-G c.2864T>G p.V955G Missense 20/21 - 2
3-178948094-TT-CC c.2866_2867delinsCC p.L956P Missense 20/21 - 1
3-178948096-G-T c.2868G>T p.L956F Missense 20/21 - 1
3-178948096-G-C c.2868G>C p.L956F Missense 20/21 - 1
3-178948097-A-C c.2869A>C p.T957P Missense 20/21 - 1
3-178948100-C-A c.2872C>A p.Q958K Missense 20/21 - 2
3-178948100-C-T c.2872C>T p.Q958* Nonsense 20/21 - 1
3-178948101-A-G c.2873A>G p.Q958R Missense 20/21 - 1
3-178948102-G-T c.2874G>T p.Q958H Missense 20/21 - 1
3-178948102-G-C c.2874G>C p.Q958H Missense 20/21 - 1
3-178948103-G-A c.2875G>A p.D959N Missense 20/21 - 1
3-178948103-G-T c.2875G>T p.D959Y Missense 20/21 - 1
3-178948114-A-G c.2886A>G p.I962M Missense 20/21 - 1
3-178948117-G-A c.2889G>A p.V963= Synonymous 20/21 - 1
3-178948117-G-C c.2889G>C p.V963= Synonymous 20/21 - 1
3-178948117-G-T c.2889G>T p.V963= Synonymous 20/21 - 1
3-178948124-A-G c.2896A>G p.K966E Missense 20/21 - 2
3-178948124-AA-GC c.2896_2897delinsGC p.K966A Missense 20/21 - 1
3-178948131-C-G c.2903C>G p.A968G Missense 20/21 - 1
3-178948133-C-A c.2905C>A p.Q969K Missense 20/21 - 1
3-178948134-A-G c.2906A>G p.Q969R Missense 20/21 - 1
3-178948136-G-A c.2908G>A p.E970K Missense 20/21 - 16
3-178948137-A-T c.2909A>T p.E970V Missense 20/21 - 1
3-178948139-T-C c.2911T>C p.C971R Missense 20/21 - 6
3-178948140-G-C c.2912G>C p.C971S Missense 20/21 - 1
3-178948138-ATGCACAAAGACAAGAGAATTTGAGAGG-A c.2913_2936+3del - SpliceDonorDeletion 20/21 20/20 1
3-178948142-A-G c.2914A>G p.T972A Missense 20/21 - 1
3-178948152-G-A c.2924G>A p.R975K Missense 20/21 - 1
3-178948153-A-C c.2925A>C p.R975S Missense 20/21 - 6
3-178948153-A-T c.2925A>T p.R975S Missense 20/21 - 6
3-178948154-G-T c.2926G>T p.E976* Nonsense 20/21 - 1
3-178948154-G-A c.2926G>A p.E976K Missense 20/21 - 1
3-178948155-A-C c.2927A>C p.E976A Missense 20/21 - 1
3-178948156-A-T c.2928A>T p.E976D Missense 20/21 - 1
3-178948160-G-A c.2932G>A p.E978K Missense 20/21 - 2
3-178950297-C-T c.2937-1585C>T - IntronicSNV - 20/20 14
3-178951889-G-A c.2944G>A p.E982K Missense 21/21 - 1
3-178951889-G-C c.2944G>C p.E982Q Missense 21/21 - 1
3-178951891-G-C c.2946G>C p.E982D Missense 21/21 - 1
3-178951891-G-T c.2946G>T p.E982D Missense 21/21 - 1
3-178951893-T-A c.2948T>A p.M983K Missense 21/21 - 1
3-178951894-G-C c.2949G>C p.M983I Missense 21/21 - 1
3-178951894-G-A c.2949G>A p.M983I Missense 21/21 - 2
3-178951894-G-T c.2949G>T p.M983I Missense 21/21 - 1
3-178951896-G-A c.2951G>A p.C984Y Missense 21/21 - 1
3-178951898-TA-CT c.2953_2954delinsCT p.Y985L Missense 21/21 - 2
3-178951899-A-T c.2954A>T p.Y985F Missense 21/21 - 2
3-178951899-A-C c.2954A>C p.Y985S Missense 21/21 - 1
3-178951901-AA-CC c.2956_2957delinsCC p.K986P Missense 21/21 - 1
3-178951904-G-T c.2959G>T p.A987S Missense 21/21 - 1
3-178951908-A-T c.2963A>T p.Y988F Missense 21/21 - 1
3-178951910-C-G c.2965C>G p.L989V Missense 21/21 - 2
3-178951911-T-C c.2966T>C p.L989P Missense 21/21 - 1
3-178951914-C-T c.2969C>T p.A990V Missense 21/21 - 1
3-178951919-C-T c.2974C>T p.R992* Nonsense 21/21 - 5
3-178951919-CG-AT c.2974_2975delinsAT p.R992I Missense 21/21 - 1
3-178951920-G-C c.2975G>C p.R992P Missense 21/21 - 2
3-178951920-G-T c.2975G>T p.R992L Missense 21/21 - 1
3-178951920-G-A c.2975G>A p.R992Q Missense 21/21 - 2
3-178951925-C-T c.2980C>T p.H994Y Missense 21/21 - 2
3-178951929-C-A c.2984C>A p.A995D Missense 21/21 - 1
3-178951932-A-G c.2987A>G p.N996S Missense 21/21 - 1
3-178951933-T-C c.2988T>C p.N996= Synonymous 21/21 - 1
3-178951936-C-T c.2991C>T p.L997= Synonymous 21/21 - 1
3-178951938-T-C c.2993T>C p.F998S Missense 21/21 - 3
3-178951939-C-T c.2994C>T p.F998= Synonymous 21/21 - 1
3-178951943-A-G c.2998A>G p.N1000D Missense 21/21 - 2
3-178951943-A-T c.2998A>T p.N1000Y Missense 21/21 - 1
3-178951946-C-G c.3001C>G p.L1001V Missense 21/21 - 1
3-178951946-C-A c.3001C>A p.L1001I Missense 21/21 - 1
3-178951949-T-C c.3004T>C p.F1002L Missense 21/21 - 1
3-178951952-T-C c.3007T>C p.S1003P Missense 21/21 - 3
3-178951952-TC-AT c.3007_3008delinsAT p.S1003I Missense 21/21 - 1
3-178951953-C-T c.3008C>T p.S1003L Missense 21/21 - 1
3-178951955-A-G c.3010A>G p.M1004V Missense 21/21 - 5
3-178951955-ATG-TTT c.3010_3012delinsTTT p.M1004F Missense 21/21 - 1
3-178951955-AT-GC c.3010_3011delinsGC p.M1004A Missense 21/21 - 1
3-178951957-G-C c.3012G>C p.M1004I Missense 21/21 - 8
3-178951957-G-A c.3012G>A p.M1004I Missense 21/21 - 13
3-178951957-G-T c.3012G>T p.M1004I Missense 21/21 - 15
3-178951958-A-G c.3013A>G p.M1005V Missense 21/21 - 2
3-178951961-C-T c.3016C>T p.L1006F Missense 21/21 - 2
3-178951962-T-C c.3017T>C p.L1006P Missense 21/21 - 2
3-178951962-T-G c.3017T>G p.L1006R Missense 21/21 - 1
3-178951964-G-C c.3019G>C p.G1007R Missense 21/21 - 19
3-178951964-G-A c.3019G>A p.G1007S Missense 21/21 - 1
3-178951965-G-T c.3020G>T p.G1007V Missense 21/21 - 1
3-178951966-C-T c.3021C>T p.G1007= Synonymous 21/21 - 1
3-178951966-C-A c.3021C>A p.G1007= Synonymous 21/21 - 1
3-178951966-C-G c.3021C>G p.G1007= Synonymous 21/21 - 1
3-178951967-T-A c.3022T>A p.S1008T Missense 21/21 - 1
3-178951967-T-C c.3022T>C p.S1008P Missense 21/21 - 3
3-178951967-T-G c.3022T>G p.S1008A Missense 21/21 - 1
3-178951970-G-C c.3025G>C p.G1009R Missense 21/21 - 1
3-178951971-G-A c.3026G>A p.G1009E Missense 21/21 - 1
3-178951971-GA-AC c.3026_3027delinsAC p.G1009D Missense 21/21 - 1
3-178951972-A-T c.3027A>T p.G1009= Synonymous 21/21 - 1
3-178951972-A-G c.3027A>G p.G1009= Synonymous 21/21 - 1
3-178951972-A-C c.3027A>C p.G1009= Synonymous 21/21 - 1
3-178951976-C-T c.3031C>T p.P1011S Missense 21/21 - 3
3-178951977-C-T c.3032C>T p.P1011L Missense 21/21 - 1
3-178951979-G-C c.3034G>C p.E1012Q Missense 21/21 - 3
3-178951979-G-A c.3034G>A p.E1012K Missense 21/21 - 6
3-178951979-G-T c.3034G>T p.E1012* Nonsense 21/21 - 1
3-178951980-A-G c.3035A>G p.E1012G Missense 21/21 - 1
3-178951982-C-A c.3037C>A p.L1013I Missense 21/21 - 1
3-178951985-C-T c.3040C>T p.Q1014* Nonsense 21/21 - 2
3-178951986-A-G c.3041A>G p.Q1014R Missense 21/21 - 2
3-178951987-A-T c.3042A>T p.Q1014H Missense 21/21 - 1
3-178951987-A-C c.3042A>C p.Q1014H Missense 21/21 - 1
3-178951989-C-T c.3044C>T p.S1015F Missense 21/21 - 3
3-178951990-T-C c.3045T>C p.S1015= Synonymous 21/21 - 2
3-178951990-T-G c.3045T>G p.S1015= Synonymous 21/21 - 1
3-178951990-T-A c.3045T>A p.S1015= Synonymous 21/21 - 1
3-178951991-T-C c.3046T>C p.F1016L Missense 21/21 - 1
3-178951993-T-A c.3048T>A p.F1016L Missense 21/21 - 1
3-178951993-T-G c.3048T>G p.F1016L Missense 21/21 - 1
3-178951994-G-A c.3049G>A p.D1017N Missense 21/21 - 3
3-178951994-G-C c.3049G>C p.D1017H Missense 21/21 - 10
3-178951995-A-T c.3050A>T p.D1017V Missense 21/21 - 4
3-178951995-A-G c.3050A>G p.D1017G Missense 21/21 - 2
3-178951997-G-A c.3052G>A p.D1018N Missense 21/21 - 2
3-178952003-G-A c.3058G>A p.A1020T Missense 21/21 - 3
3-178952004-C-T c.3059C>T p.A1020V Missense 21/21 - 2
3-178952006-T-C c.3061T>C p.Y1021H Missense 21/21 - 19
3-178952006-T-A c.3061T>A p.Y1021N Missense 21/21 - 3
3-178952007-A-G c.3062A>G p.Y1021C Missense 21/21 - 52
3-178952007-A-T c.3062A>T p.Y1021F Missense 21/21 - 6
3-178952008-C-A c.3063C>A p.Y1021* Nonsense 21/21 - 1
3-178952008-C-G c.3063C>G p.Y1021* Nonsense 21/21 - 1
3-178952009-A-G c.3064A>G p.I1022V Missense 21/21 - 2
3-178952011-T-C c.3066T>C p.I1022= Synonymous 21/21 - 1
3-178952011-T-A c.3066T>A p.I1022= Synonymous 21/21 - 1
3-178952011-T-G c.3066T>G p.I1022M Missense 21/21 - 1
3-178952012-C-T c.3067C>T p.R1023* Nonsense 21/21 - 3
3-178952013-G-A c.3068G>A p.R1023Q Missense 21/21 - 19
3-178952013-CG-C c.3068del p.R1023Qfs*4 Frameshift 21/21 - 1
3-178952013-G-C c.3068G>C p.R1023P Missense 21/21 - 1
3-178952016-A-G c.3071A>G p.K1024R Missense 21/21 - 1
3-178952017-G-C c.3072G>C p.K1024N Missense 21/21 - 1
3-178952018-A-T c.3073A>T p.T1025S Missense 21/21 - 15
3-178952018-A-G c.3073A>G p.T1025A Missense 21/21 - 51
3-178952018-ACC-TAA c.3073_3075delinsTAA p.T1025* Nonsense 21/21 - 1
3-178952018-A-C c.3073A>C p.T1025P Missense 21/21 - 1
3-178952019-C-A c.3074C>A p.T1025N Missense 21/21 - 3
3-178952019-C-T c.3074C>T p.T1025I Missense 21/21 - 4
3-178952019-C-G c.3074C>G p.T1025S Missense 21/21 - 7
3-178952020-C-T c.3075C>T p.T1025= Synonymous 21/21 - 26
3-178952020-C-A c.3075C>A p.T1025= Synonymous 21/21 - 11
3-178952020-C-G c.3075C>G p.T1025= Synonymous 21/21 - 11
3-178952021-C-A c.3076C>A p.L1026I Missense 21/21 - 1
3-178952024-G-A c.3079G>A p.A1027T Missense 21/21 - 2
3-178952024-GC-CA c.3079_3080delinsCA p.A1027H Missense 21/21 - 1
3-178952025-C-A c.3080C>A p.A1027D Missense 21/21 - 1
3-178952027-T-C c.3082T>C p.L1028= Synonymous 21/21 - 1
3-178952029-A-G c.3084A>G p.L1028= Synonymous 21/21 - 1
3-178952028-T-C c.3083T>C p.L1028S Missense 21/21 - 1
3-178952030-G-A c.3085G>A p.D1029N Missense 21/21 - 5
3-178952030-G-T c.3085G>T p.D1029Y Missense 21/21 - 3
3-178952030-G-C c.3085G>C p.D1029H Missense 21/21 - 6
3-178952034-AA-TG c.3089_3090delinsTG p.K1030M Missense 21/21 - 1
3-178952034-A-G c.3089A>G p.K1030R Missense 21/21 - 1
3-178952036-A-G c.3091A>G p.T1031A Missense 21/21 - 1
3-178952037-C-T c.3092C>T p.T1031I Missense 21/21 - 2
3-178952037-C-A c.3092C>A p.T1031N Missense 21/21 - 1
3-178952039-G-C c.3094G>C p.E1032Q Missense 21/21 - 1
3-178952040-GA-G c.3095del p.E1032Gfs*9 Frameshift 21/21 - 1
3-178952042-C-A c.3097C>A p.Q1033K Missense 21/21 - 1
3-178952043-A-G c.3098A>G p.Q1033R Missense 21/21 - 3
3-178952043-A-T c.3098A>T p.Q1033L Missense 21/21 - 1
3-178952044-A-G c.3099A>G p.Q1033= Synonymous 21/21 - 1
3-178952045-G-C c.3100G>C p.E1034Q Missense 21/21 - 2
3-178952046-A-G c.3101A>G p.E1034G Missense 21/21 - 2
3-178952047-G-A c.3102G>A p.E1034= Synonymous 21/21 - 1
3-178952048-G-A c.3103G>A p.A1035T Missense 21/21 - 9
3-178952049-C-T c.3104C>T p.A1035V Missense 21/21 - 10
3-178952053-G-T c.3108G>T p.L1036F Missense 21/21 - 1
3-178952053-G-C c.3108G>C p.L1036F Missense 21/21 - 1
3-178952054-G-A c.3109G>A p.E1037K Missense 21/21 - 8
3-178952054-G-C c.3109G>C p.E1037Q Missense 21/21 - 1
3-178952054-G-T c.3109G>T p.E1037* Nonsense 21/21 - 1
3-178952055-A-G c.3110A>G p.E1037G Missense 21/21 - 1
3-178952055-A-T c.3110A>T p.E1037V Missense 21/21 - 1
3-178952057-T-C c.3112T>C p.Y1038H Missense 21/21 - 1
3-178952058-A-C c.3113A>C p.Y1038S Missense 21/21 - 1
3-178952058-A-G c.3113A>G p.Y1038C Missense 21/21 - 1
3-178952060-T-C c.3115T>C p.F1039L Missense 21/21 - 1
3-178952062-C-A c.3117C>A p.F1039L Missense 21/21 - 1
3-178952062-C-G c.3117C>G p.F1039L Missense 21/21 - 1
3-178952062-C-T c.3117C>T p.F1039= Synonymous 21/21 - 2
3-178952063-A-G c.3118A>G p.M1040V Missense 21/21 - 1
3-178952063-A-C c.3118A>C p.M1040L Missense 21/21 - 1
3-178952063-A-T c.3118A>T p.M1040L Missense 21/21 - 1
3-178952064-T-C c.3119T>C p.M1040T Missense 21/21 - 1
3-178952065-G-C c.3120G>C p.M1040I Missense 21/21 - 5
3-178952065-G-A c.3120G>A p.M1040I Missense 21/21 - 10
3-178952065-G-T c.3120G>T p.M1040I Missense 21/21 - 5
3-178952066-A-G c.3121A>G p.K1041E Missense 21/21 - 1
3-178952072-A-C c.3127A>C p.M1043L Missense 21/21 - 11
3-178952072-A-T c.3127A>T p.M1043L Missense 21/21 - 13
3-178952072-A-G c.3127A>G p.M1043V Missense 21/21 - 76
3-178952069-C-CA c.3127dup p.M1043Nfs*3 Frameshift 21/21 - 1
3-178952073-T-C c.3128T>C p.M1043T Missense 21/21 - 6
3-178952074-G-C c.3129G>C p.M1043I Missense 21/21 - 108
3-178952074-G-A c.3129G>A p.M1043I Missense 21/21 - 129
3-178952074-G-T c.3129G>T p.M1043I Missense 21/21 - 117
3-178952075-A-G c.3130A>G p.N1044D Missense 21/21 - 1
3-178952075-A-C c.3130A>C p.N1044H Missense 21/21 - 3
3-178952075-A-T c.3130A>T p.N1044Y Missense 21/21 - 5
3-178952075-A-ATCT c.3130_3131insTCT p.N1044delinsIY MultiAAMissense 21/21 - 1
3-178952075-AA-CT c.3130_3131delinsCT p.N1044L Missense 21/21 - 1
3-178952076-A-G c.3131A>G p.N1044S Missense 21/21 - 9
3-178952076-A-C c.3131A>C p.N1044T Missense 21/21 - 1
3-178952077-T-G c.3132T>G p.N1044K Missense 21/21 - 22
3-178952077-T-A c.3132T>A p.N1044K Missense 21/21 - 43
3-178952078-G-A c.3133G>A p.D1045N Missense 21/21 - 9
3-178952078-G-T c.3133G>T p.D1045Y Missense 21/21 - 1
3-178952078-G-C c.3133G>C p.D1045H Missense 21/21 - 1
3-178952078-GAT-AAG c.3133_3135delinsAAG p.D1045K Missense 21/21 - 1
3-178952079-A-C c.3134A>C p.D1045A Missense 21/21 - 1
3-178952079-A-T c.3134A>T p.D1045V Missense 21/21 - 1
3-178952080-T-C c.3135T>C p.D1045= Synonymous 21/21 - 1
3-178952081-G-A c.3136G>A p.A1046T Missense 21/21 - 8
3-178952081-G-T c.3136G>T p.A1046S Missense 21/21 - 2
3-178952082-C-A c.3137C>A p.A1046E Missense 21/21 - 3
3-178952082-C-T c.3137C>T p.A1046V Missense 21/21 - 10
3-178952083-A-C c.3138A>C p.A1046= Synonymous 21/21 - 1
3-178952083-A-G c.3138A>G p.A1046= Synonymous 21/21 - 1
3-178952083-A-T c.3138A>T p.A1046= Synonymous 21/21 - 1
3-178952084-CAT-TAA c.3139_3141delinsTAA p.H1047* Nonsense 21/21 - 21
3-178952084-CA-GC c.3139_3140delinsGC p.H1047A Missense 21/21 - 5
3-178952084-C-T c.3139C>T p.H1047Y Missense 21/21 - 170
3-178952084-CAT-AAG c.3139_3141delinsAAG p.H1047K Missense 21/21 - 6
3-178952084-C-G c.3139C>G p.H1047D Missense 21/21 - 1
3-178952084-C-A c.3139C>A p.H1047N Missense 21/21 - 2
3-178952084-CA-AG c.3139_3140delinsAG p.H1047S Missense 21/21 - 1
3-178952084-CA-TG c.3139_3140inv p.H1047C Missense 21/21 - 1
3-178952084-CA-AC c.3139_3140delinsAC p.H1047T Missense 21/21 - 2
3-178952084-CAT-GAG c.3139_3141delinsGAG p.H1047E Missense 21/21 - 1
3-178952084-CA-AT c.3139_3140delinsAT p.H1047I Missense 21/21 - 1
3-178952085-A-G c.3140A>G p.H1047R Missense 21/21 - 2547
3-178952085-A-T c.3140A>T p.H1047L Missense 21/21 - 542
3-178952085-A-C c.3140A>C p.H1047P Missense 21/21 - 5
3-178952086-T-A c.3141T>A p.H1047Q Missense 21/21 - 18
3-178952086-T-G c.3141T>G p.H1047Q Missense 21/21 - 11
3-178952086-T-C c.3141T>C p.H1047= Synonymous 21/21 - 7
3-178952087-CAT-TAA c.3142_3144delinsTAA p.H1048* Nonsense 21/21 - 2
3-178952087-CA-AG c.3142_3143delinsAG p.H1048S Missense 21/21 - 1
3-178952087-C-T c.3142C>T p.H1048Y Missense 21/21 - 4
3-178952087-CA-AC c.3142_3143delinsAC p.H1048T Missense 21/21 - 1
3-178952087-C-G c.3142C>G p.H1048D Missense 21/21 - 1
3-178952088-A-G c.3143A>G p.H1048R Missense 21/21 - 24
3-178952088-A-T c.3143A>T p.H1048L Missense 21/21 - 3
3-178952089-T-A c.3144T>A p.H1048Q Missense 21/21 - 1
3-178952089-T-G c.3144T>G p.H1048Q Missense 21/21 - 1
3-178952089-T-C c.3144T>C p.H1048= Synonymous 21/21 - 1
3-178952090-G-C c.3145G>C p.G1049R Missense 21/21 - 130
3-178952090-G-A c.3145G>A p.G1049S Missense 21/21 - 27
3-178952090-GG-AA c.3145_3146delinsAA p.G1049N Missense 21/21 - 3
3-178952090-GGT-TGA c.3145_3147delinsTGA p.G1049* Nonsense 21/21 - 5
3-178952090-G-T c.3145G>T p.G1049C Missense 21/21 - 3
3-178952091-G-A c.3146G>A p.G1049D Missense 21/21 - 7
3-178952091-G-C c.3146G>C p.G1049A Missense 21/21 - 3
3-178952091-G-T c.3146G>T p.G1049V Missense 21/21 - 1
3-178952092-T-C c.3147T>C p.G1049= Synonymous 21/21 - 1
3-178952093-G-A c.3148G>A p.G1050S Missense 21/21 - 8
3-178952093-G-T c.3148G>T p.G1050C Missense 21/21 - 1
3-178952094-G-A c.3149G>A p.G1050D Missense 21/21 - 4
3-178952095-C-T c.3150C>T p.G1050= Synonymous 21/21 - 2
3-178952097-G-A c.3152G>A p.W1051* Nonsense 21/21 - 3
3-178952098-G-T c.3153G>T p.W1051C Missense 21/21 - 1
3-178952098-G-C c.3153G>C p.W1051C Missense 21/21 - 1
3-178952098-G-A c.3153G>A p.W1051* Nonsense 21/21 - 3
3-178952099-A-T c.3154A>T p.T1052S Missense 21/21 - 1
3-178952099-A-G c.3154A>G p.T1052A Missense 21/21 - 3
3-178952100-C-T c.3155C>T p.T1052I Missense 21/21 - 5
3-178952100-C-A c.3155C>A p.T1052K Missense 21/21 - 9
3-178952101-A-G c.3156A>G p.T1052= Synonymous 21/21 - 1
3-178952101-A-T c.3156A>T p.T1052= Synonymous 21/21 - 1
3-178952101-A-C c.3156A>C p.T1052= Synonymous 21/21 - 1
3-178952103-C-T c.3158C>T p.T1053I Missense 21/21 - 3
3-178952103-C-A c.3158C>A p.T1053K Missense 21/21 - 1
3-178952106-AAAATG-A c.3161_3165del p.K1054Rfs*8 Frameshift 21/21 - 1
3-178952108-A-C c.3163A>C p.M1055L Missense 21/21 - 1
3-178952110-G-T c.3165G>T p.M1055I Missense 21/21 - 1
3-178952110-G-C c.3165G>C p.M1055I Missense 21/21 - 1
3-178952110-G-A c.3165G>A p.M1055I Missense 21/21 - 2
3-178952109-T-TG c.3166dup p.D1056Gfs*8 Frameshift 21/21 - 1
3-178952111-G-A c.3166G>A p.D1056N Missense 21/21 - 2
3-178952112-A-G c.3167A>G p.D1056G Missense 21/21 - 1
3-178952114-T-A c.3169T>A p.W1057R Missense 21/21 - 1
3-178952114-T-C c.3169T>C p.W1057R Missense 21/21 - 1
3-178952116-G-A c.3171G>A p.W1057* Nonsense 21/21 - 3
3-178952115-G-A c.3170G>A p.W1057* Nonsense 21/21 - 4
3-178952117-A-T c.3172A>T p.I1058F Missense 21/21 - 6
3-178952117-A-C c.3172A>C p.I1058L Missense 21/21 - 1
3-178952120-T-C c.3175T>C p.F1059L Missense 21/21 - 2
3-178952122-C-A c.3177C>A p.F1059L Missense 21/21 - 1
3-178952122-C-G c.3177C>G p.F1059L Missense 21/21 - 1
3-178952123-C-T c.3178C>T p.H1060Y Missense 21/21 - 1
3-178952126-A-G c.3181A>G p.T1061A Missense 21/21 - 1
3-178952129-A-G c.3184A>G p.I1062V Missense 21/21 - 1
3-178952130-T-C c.3185T>C p.I1062T Missense 21/21 - 2
3-178952133-A-G c.3188A>G p.K1063R Missense 21/21 - 1
3-178952135-C-T c.3190C>T p.Q1064* Nonsense 21/21 - 1
3-178952136-A-G c.3191A>G p.Q1064R Missense 21/21 - 1
3-178952138-C-T c.3193C>T p.H1065Y Missense 21/21 - 5
3-178952139-A-T c.3194A>T p.H1065L Missense 21/21 - 6
3-178952139-A-G c.3194A>G p.H1065R Missense 21/21 - 1
3-178952139-CATGCA-C c.3194_3198del p.H1065Lfs*6 Frameshift 21/21 - 1
3-178952139-A-AT c.3195dup p.A1066Cfs*7 Frameshift 21/21 - 1
3-178952138-CATGCATTG-C c.3195_3202del p.H1065Qfs*5 Frameshift 21/21 - 1
3-178952141-G-A c.3196G>A p.A1066T Missense 21/21 - 6
3-178952142-C-T c.3197C>T p.A1066V Missense 21/21 - 14
3-178952146-G-A c.3201G>A p.L1067= Synonymous 21/21 - 2
3-178952144-T-C c.3199T>C p.L1067= Synonymous 21/21 - 2
3-178952146-G-C c.3201G>C p.L1067F Missense 21/21 - 3
3-178952146-G-T c.3201G>T p.L1067F Missense 21/21 - 2
3-178952146-G-GA c.3203dup p.N1068Kfs*5 Frameshift 21/21 - 3
3-178952149-C-G c.3204C>G p.N1068K Missense 21/21 - 1
3-178952150-T-TG c.3206dup p.*1069Wfs*4 CdsStopInsertion 21/21 - 1
3-178952151-G-A c.3206G>A p.*1069= Synonymous 21/21 - 1
3-178952181-T-C c.*29T>C - 3-UTRSNV 21/21 - 6
3-178952507-G-T c.*355G>T - IntergenicSNV 21/21 - 4
3-178955783-T-C c.*3631T>C - IntergenicSNV 21/21 - 1
3-178957783-C-T c.*5631C>T - IntergenicSNV 21/21 - 1