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

Canonical transcript: NM_006218

1194 unique variant annotations were identified in 2380 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-178866408-C-T c.-77+17C>T - intron_variant - 1/20 19
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 17
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 10
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
3-178916623-C-T c.10C>T p.Arg4* Nonsense 2/21 - 1
3-178916632-ATCA-A c.19_21del p.Ser7del InFrameDeletion 2/21 - 1
3-178916641-ACTG-A c.28_30del p.Leu10del InFrameDeletion 2/21 - 1
3-178916641-CT-GC c.28_29delinsGC p.Leu10Ala Missense 2/21 - 3
3-178916642-T-C c.29T>C p.Leu10Pro Missense 2/21 - 1
3-178916644-T-A c.31T>A p.Trp11Arg Missense 2/21 - 1
3-178916644-T-C c.31T>C p.Trp11Arg Missense 2/21 - 1
3-178916644-TG-GC c.31_32delinsGC p.Trp11Ala Missense 2/21 - 1
3-178916646-G-T c.33G>T p.Trp11Cys Missense 2/21 - 1
3-178916646-G-C c.33G>C p.Trp11Cys Missense 2/21 - 1
3-178916647-GGC-TGG c.34_36delinsTGG p.Gly12Trp Missense 2/21 - 1
3-178916647-GG-AC c.34_35delinsAC p.Gly12Thr Missense 2/21 - 3
3-178916647-GG-CC c.34_35inv p.Gly12Pro Missense 2/21 - 1
3-178916647-G-T c.34G>T p.Gly12Cys Missense 2/21 - 62
3-178916647-G-A c.34G>A p.Gly12Ser Missense 2/21 - 31
3-178916647-G-C c.34G>C p.Gly12Arg Missense 2/21 - 13
3-178916647-GG-TA c.34_35delinsTA p.Gly12Tyr Missense 2/21 - 1
3-178916647-GG-TT c.34_35delinsTT p.Gly12Phe Missense 2/21 - 2
3-178916648-G-T c.35G>T p.Gly12Val Missense 2/21 - 281
3-178916648-G-C c.35G>C p.Gly12Ala Missense 2/21 - 19
3-178916648-G-A c.35G>A p.Gly12Asp Missense 2/21 - 328
3-178916650-A-C c.37A>C p.Ile13Leu Missense 2/21 - 4
3-178916653-CA-TT c.40_41delinsTT p.His14Phe Missense 2/21 - 1
3-178916657-T-G c.44T>G p.Leu15Trp Missense 2/21 - 1
3-178916662-C-T c.49C>T p.Pro17Ser Missense 2/21 - 3
3-178916662-C-A c.49C>A p.Pro17Thr Missense 2/21 - 1
3-178916662-C-G c.49C>G p.Pro17Ala Missense 2/21 - 1
3-178916663-C-G c.50C>G p.Pro17Arg Missense 2/21 - 1
3-178916664-CCCC-C c.51_53del p.Pro18del InFrameDeletion 2/21 - 1
3-178916665-C-A c.52C>A p.Pro18Thr Missense 2/21 - 2
3-178916665-CCA-AAC c.52_54delinsAAC p.Pro18Asn Missense 2/21 - 1
3-178916666-C-T c.53C>T p.Pro18Leu Missense 2/21 - 1
3-178916667-A-T c.54A>T p.Pro18Pro Synonymous 2/21 - 1
3-178916668-A-T c.55A>T p.Arg19* Nonsense 2/21 - 1
3-178916668-AGA-TGT c.55_57delinsTGT p.Arg19Cys Missense 2/21 - 1
3-178916669-G-A c.56G>A p.Arg19Lys Missense 2/21 - 1
3-178916672-T-G c.59T>G p.Ile20Ser Missense 2/21 - 6
3-178916673-C-G c.60C>G p.Ile20Met Missense 2/21 - 1
3-178916674-CT-GC c.61_62delinsGC p.Leu21Ala Missense 2/21 - 1
3-178916674-CT-GA c.61_62delinsGA p.Leu21Glu Missense 2/21 - 1
3-178916678-T-C c.65T>C p.Val22Ala Missense 2/21 - 1
3-178916680-G-A c.67G>A p.Glu23Lys Missense 2/21 - 1
3-178916680-GA-CT c.67_68delinsCT p.Glu23Leu Missense 2/21 - 1
3-178916682-A-G c.69A>G p.Glu23Glu Synonymous 2/21 - 1
3-178916683-TG-GC c.70_71delinsGC p.Cys24Ala Missense 2/21 - 1
3-178916683-TG-CA c.70_71inv p.Cys24His Missense 2/21 - 1
3-178916683-T-G c.70T>G p.Cys24Gly Missense 2/21 - 1
3-178916686-TT-AA c.73_74inv p.Leu25Lys Missense 2/21 - 1
3-178916687-T-C c.74T>C p.Leu25Ser Missense 2/21 - 1
3-178916692-C-T c.79C>T p.Pro27Ser Missense 2/21 - 1
3-178916692-CC-AT c.79_80delinsAT p.Pro27Ile Missense 2/21 - 1
3-178916692-CC-AA c.79_80delinsAA p.Pro27Lys Missense 2/21 - 2
3-178916692-CC-GA c.79_80delinsGA p.Pro27Glu Missense 2/21 - 1
3-178916693-C-T c.80C>T p.Pro27Leu Missense 2/21 - 1
3-178916698-G-T c.85G>T p.Gly29* Nonsense 2/21 - 1
3-178916701-A-G c.88A>G p.Met30Val Missense 2/21 - 1
3-178916703-G-A c.90G>A p.Met30Ile Missense 2/21 - 1
3-178916703-G-C c.90G>C p.Met30Ile Missense 2/21 - 1
3-178916703-G-T c.90G>T p.Met30Ile Missense 2/21 - 1
3-178916706-A-G c.93A>G p.Ile31Met Missense 2/21 - 2
3-178916710-A-T c.97A>T p.Thr33Ser Missense 2/21 - 2
3-178916711-C-G c.98C>G p.Thr33Ser Missense 2/21 - 2
3-178916713-T-G c.100T>G p.Leu34Val Missense 2/21 - 1
3-178916715-A-C c.102A>C p.Leu34Phe Missense 2/21 - 1
3-178916715-A-T c.102A>T p.Leu34Phe Missense 2/21 - 1
3-178916716-G-A c.103G>A p.Glu35Lys Missense 2/21 - 1
3-178916720-G-C c.107G>C p.Cys36Ser Missense 2/21 - 1
3-178916719-T-A c.106T>A p.Cys36Ser Missense 2/21 - 1
3-178916719-TG-GC c.106_107delinsGC p.Cys36Ala Missense 2/21 - 1
3-178916725-CGT-AAG c.112_114delinsAAG p.Arg38Lys Missense 2/21 - 2
3-178916725-CG-TT c.112_113delinsTT p.Arg38Phe Missense 2/21 - 1
3-178916725-CG-GA c.112_113delinsGA p.Arg38Asp Missense 2/21 - 2
3-178916725-CG-GC c.112_113delinsGC p.Arg38Ala Missense 2/21 - 15
3-178916725-C-T c.112C>T p.Arg38Cys Missense 2/21 - 18
3-178916725-C-G c.112C>G p.Arg38Gly Missense 2/21 - 2
3-178916725-C-A c.112C>A p.Arg38Ser Missense 2/21 - 3
3-178916726-G-A c.113G>A p.Arg38His Missense 2/21 - 25
3-178916728-G-A c.115G>A p.Glu39Lys Missense 2/21 - 3
3-178916732-CT-AG c.119_120inv p.Ala40Glu Missense 2/21 - 2
3-178916732-C-A c.119C>A p.Ala40Asp Missense 2/21 - 2
3-178916734-A-T c.121A>T p.Thr41Ser Missense 2/21 - 1
3-178916734-A-G c.121A>G p.Thr41Ala Missense 2/21 - 2
3-178916735-CA-AC c.122_123delinsAC p.Thr41Asn Missense 2/21 - 1
3-178916735-C-T c.122C>T p.Thr41Ile Missense 2/21 - 1
3-178916737-TT-AG c.124_125delinsAG p.Leu42Arg Missense 2/21 - 1
3-178916740-A-G c.127A>G p.Ile43Val Missense 2/21 - 1
3-178916743-A-G c.130A>G p.Thr44Ala Missense 2/21 - 2
3-178916743-AC-GA c.130_131delinsGA p.Thr44Asp Missense 2/21 - 1
3-178916744-C-A c.131C>A p.Thr44Asn Missense 2/21 - 1
3-178916750-A-G c.137A>G p.Lys46Arg Missense 2/21 - 2
3-178916752-C-T c.139C>T p.His47Tyr Missense 2/21 - 1
3-178916753-A-G c.140A>G p.His47Arg Missense 2/21 - 1
3-178916755-GA-AG c.142_143delinsAG p.Glu48Arg Missense 2/21 - 1
3-178916757-A-G c.144A>G p.Glu48Glu Synonymous 2/21 - 1
3-178916764-AA-GC c.151_152delinsGC p.Lys51Ala Missense 2/21 - 1
3-178916766-A-C c.153A>C p.Lys51Asn Missense 2/21 - 1
3-178916766-A-T c.153A>T p.Lys51Asn Missense 2/21 - 1
3-178916767-G-A c.154G>A p.Glu52Lys Missense 2/21 - 1
3-178916770-GCA-TTT c.157_159delinsTTT p.Ala53Phe Missense 2/21 - 1
3-178916770-G-A c.157G>A p.Ala53Thr Missense 2/21 - 22
3-178916771-CA-AC c.158_159delinsAC p.Ala53Asp Missense 2/21 - 1
3-178916774-G-A c.161G>A p.Arg54Lys Missense 2/21 - 2
3-178916780-A-C c.167A>C p.Tyr56Ser Missense 2/21 - 1
3-178916780-A-T c.167A>T p.Tyr56Phe Missense 2/21 - 1
3-178916782-C-T c.169C>T p.Pro57Ser Missense 2/21 - 1
3-178916785-CT-AG c.172_173inv p.Leu58Ser Missense 2/21 - 2
3-178916785-C-T c.172C>T p.Leu58Phe Missense 2/21 - 1
3-178916789-A-C c.176A>C p.His59Pro Missense 2/21 - 1
3-178916791-C-A c.178C>A p.Gln60Lys Missense 2/21 - 5
3-178916792-A-T c.179A>T p.Gln60Leu Missense 2/21 - 1
3-178916793-A-T c.180A>T p.Gln60His Missense 2/21 - 2
3-178916793-A-C c.180A>C p.Gln60His Missense 2/21 - 2
3-178916794-C-T c.181C>T p.Leu61Phe Missense 2/21 - 1
3-178916796-T-A c.183T>A p.Leu61Leu Synonymous 2/21 - 1
3-178916797-CT-GC c.184_185delinsGC p.Leu62Ala Missense 2/21 - 1
3-178916800-C-G c.187C>G p.Gln63Glu Missense 2/21 - 1
3-178916801-A-T c.188A>T p.Gln63Leu Missense 2/21 - 3
3-178916806-G-A c.193G>A p.Glu65Lys Missense 2/21 - 1
3-178916807-A-C c.194A>C p.Glu65Ala Missense 2/21 - 1
3-178916809-T-G c.196T>G p.Ser66Ala Missense 2/21 - 1
3-178916815-T-G c.202T>G p.Tyr68Asp Missense 2/21 - 1
3-178916818-A-G c.205A>G p.Ile69Val Missense 2/21 - 1
3-178916819-T-A c.206T>A p.Ile69Asn Missense 2/21 - 1
3-178916819-T-C c.206T>C p.Ile69Thr Missense 2/21 - 1
3-178916819-T-G c.206T>G p.Ile69Ser Missense 2/21 - 1
3-178916821-TT-GC c.208_209delinsGC p.Phe70Ala Missense 2/21 - 1
3-178916827-AGT-GAG c.214_216delinsGAG p.Ser72Glu Missense 2/21 - 2
3-178916827-AG-GA c.214_215delinsGA p.Ser72Asp Missense 2/21 - 1
3-178916827-AG-GC c.214_215delinsGC p.Ser72Ala Missense 2/21 - 5
3-178916828-GT-AG c.215_216delinsAG p.Ser72Lys Missense 2/21 - 1
3-178916833-AC-GA c.220_221delinsGA p.Thr74Asp Missense 2/21 - 3
3-178916836-C-G c.223C>G p.Gln75Glu Missense 2/21 - 5
3-178916837-A-T c.224A>T p.Gln75Leu Missense 2/21 - 5
3-178916839-G-A c.226G>A p.Glu76Lys Missense 2/21 - 4
3-178916841-A-C c.228A>C p.Glu76Asp Missense 2/21 - 1
3-178916841-A-T c.228A>T p.Glu76Asp Missense 2/21 - 1
3-178916842-GCA-TGT c.229_231delinsTGT p.Ala77Cys Missense 2/21 - 1
3-178916842-GC-TA c.229_230delinsTA p.Ala77* Nonsense 2/21 - 1
3-178916843-C-A c.230C>A p.Ala77Glu Missense 2/21 - 1
3-178916848-AG-GC c.235_236delinsGC p.Arg79Ala Missense 2/21 - 2
3-178916851-GA-AG c.238_239delinsAG p.Glu80Arg Missense 2/21 - 1
3-178916851-GA-TC c.238_239inv p.Glu80Ser Missense 2/21 - 1
3-178916851-GA-AT c.238_239delinsAT p.Glu80Ile Missense 2/21 - 2
3-178916851-G-A c.238G>A p.Glu80Lys Missense 2/21 - 1
3-178916852-A-C c.239A>C p.Glu80Ala Missense 2/21 - 1
3-178916854-GA-CT c.241_242delinsCT p.Glu81Leu Missense 2/21 - 1
3-178916854-G-A c.241G>A p.Glu81Lys Missense 2/21 - 33
3-178916855-A-G c.242A>G p.Glu81Gly Missense 2/21 - 2
3-178916860-T-C c.247T>C p.Phe83Leu Missense 2/21 - 1
3-178916862-T-A c.249T>A p.Phe83Leu Missense 2/21 - 1
3-178916862-T-G c.249T>G p.Phe83Leu Missense 2/21 - 1
3-178916861-T-C c.248T>C p.Phe83Ser Missense 2/21 - 2
3-178916862-T-C c.249T>C p.Phe83Phe Synonymous 2/21 - 2
3-178916863-G-T c.250G>T p.Asp84Tyr Missense 2/21 - 1
3-178916863-GAT-TAA c.250_252delinsTAA p.Asp84* Nonsense 2/21 - 1
3-178916864-A-G c.251A>G p.Asp84Gly Missense 2/21 - 2
3-178916869-A-G c.256A>G p.Thr86Ala Missense 2/21 - 1
3-178916869-AC-GA c.256_257delinsGA p.Thr86Glu Missense 2/21 - 1
3-178916874-A-C c.261A>C p.Arg87Ser Missense 2/21 - 1
3-178916874-A-T c.261A>T p.Arg87Ser Missense 2/21 - 1
3-178916875-CGA-GAC c.262_264delinsGAC p.Arg88Asp Missense 2/21 - 1
3-178916875-C-G c.262C>G p.Arg88Gly Missense 2/21 - 1
3-178916875-C-T c.262C>T p.Arg88* Nonsense 2/21 - 1
3-178916875-CG-AA c.262_263delinsAA p.Arg88Lys Missense 2/21 - 1
3-178916876-G-T c.263G>T p.Arg88Leu Missense 2/21 - 2
3-178916876-G-A c.263G>A p.Arg88Gln Missense 2/21 - 139
3-178916879-T-G c.266T>G p.Leu89Arg Missense 2/21 - 1
3-178916879-TT-AA c.266_267inv p.Leu89Gln Missense 2/21 - 1
3-178916882-G-A c.269G>A p.Cys90Tyr Missense 2/21 - 1
3-178916890-C-T c.277C>T p.Arg93Trp Missense 2/21 - 18
3-178916891-G-C c.278G>C p.Arg93Pro Missense 2/21 - 1
3-178916891-G-A c.278G>A p.Arg93Gln Missense 2/21 - 18
3-178916893-C-G c.280C>G p.Leu94Val Missense 2/21 - 1
3-178916894-T-C c.281T>C p.Leu94Pro Missense 2/21 - 1
3-178916896-TT-GC c.283_284delinsGC p.Phe95Ala Missense 2/21 - 2
3-178916899-C-T c.286C>T p.Gln96* Nonsense 2/21 - 1
3-178916900-A-T c.287A>T p.Gln96Leu Missense 2/21 - 1
3-178916902-C-T c.289C>T p.Pro97Ser Missense 2/21 - 1
3-178916905-TT-GA c.292_293delinsGA p.Phe98Asp Missense 2/21 - 1
3-178916908-TT-GC c.295_296delinsGC p.Leu99Ala Missense 2/21 - 3
3-178916914-GTA-TGT c.301_303delinsTGT p.Val101Cys Missense 2/21 - 1
3-178916915-T-C c.302T>C p.Val101Ala Missense 2/21 - 1
3-178916917-AATT-A c.304_306del p.Ile102del InFrameDeletion 2/21 - 1
3-178916918-ATTG-A c.305_307del p.Ile102_Glu103delinsLys MultiAAMissense 2/21 - 1
3-178916918-T-C c.305T>C p.Ile102Thr Missense 2/21 - 1
3-178916921-GAACCAGTAG-G c.308_316del p.Glu103_Val105del InFrameDeletion 2/21 - 1
3-178916923-CC-AT c.310_311delinsAT p.Pro104Ile Missense 2/21 - 1
3-178916923-C-A c.310C>A p.Pro104Thr Missense 2/21 - 1
3-178916924-C-T c.311C>T p.Pro104Leu Missense 2/21 - 5
3-178916924-C-A c.311C>A p.Pro104Gln Missense 2/21 - 1
3-178916924-C-G c.311C>G p.Pro104Arg Missense 2/21 - 1
3-178916926-G-A c.313G>A p.Val105Ile Missense 2/21 - 1
3-178916926-GTA-TGT c.313_315delinsTGT p.Val105Cys Missense 2/21 - 4
3-178916927-GTAG-G c.314_316del p.Val105del InFrameDeletion 2/21 - 1
3-178916929-G-C c.316G>C p.Gly106Arg Missense 2/21 - 5
3-178916929-G-T c.316G>T p.Gly106Cys Missense 2/21 - 1
3-178916929-G-A c.316G>A p.Gly106Ser Missense 2/21 - 1
3-178916930-G-A c.317G>A p.Gly106Asp Missense 2/21 - 1
3-178916930-G-C c.317G>C p.Gly106Ala Missense 2/21 - 1
3-178916930-GGCAACCGTG-G c.317_325del p.Gly106_Arg108del InFrameDeletion 2/21 - 1
3-178916930-GC-AG c.317_318delinsAG p.Gly106Glu Missense 2/21 - 1
3-178916930-G-T c.317G>T p.Gly106Val Missense 2/21 - 17
3-178916930-GGCAACCGTGAAG-G c.317_328del p.Gly106_Glu109del InFrameDeletion 2/21 - 2
3-178916931-C-A c.318C>A p.Gly106Gly Synonymous 2/21 - 1
3-178916931-C-T c.318C>T p.Gly106Gly Synonymous 2/21 - 1
3-178916931-C-G c.318C>G p.Gly106Gly Synonymous 2/21 - 1
3-178916932-CAAC-C c.319_321del p.Asn107del InFrameDeletion 2/21 - 1
3-178916932-A-C c.319A>C p.Asn107His Missense 2/21 - 1
3-178916933-A-G c.320A>G p.Asn107Ser Missense 2/21 - 2
3-178916935-CCGT-C c.322_324del p.Arg108del InFrameDeletion 2/21 - 5
3-178916935-CGT-AAG c.322_324delinsAAG p.Arg108Lys Missense 2/21 - 3
3-178916935-C-T c.322C>T p.Arg108Cys Missense 2/21 - 1
3-178916936-G-A c.323G>A p.Arg108His Missense 2/21 - 24
3-178916936-G-T c.323G>T p.Arg108Leu Missense 2/21 - 1
3-178916939-A-G c.326A>G p.Glu109Gly Missense 2/21 - 1
3-178916941-G-A c.328G>A p.Glu110Lys Missense 2/21 - 11
3-178916941-AGAA-A c.328_330del p.Glu110del InFrameDeletion 2/21 - 20
3-178916944-A-G c.331A>G p.Lys111Glu Missense 2/21 - 39
3-178916945-A-C c.332A>C p.Lys111Thr Missense 2/21 - 1
3-178916945-A-G c.332A>G p.Lys111Arg Missense 2/21 - 2
3-178916945-AAGA-A c.332_334del p.Lys111del InFrameDeletion 2/21 - 3
3-178916946-G-T c.333G>T p.Lys111Asn Missense 2/21 - 53
3-178916947-A-G c.334A>G p.Ile112Val Missense 2/21 - 1
3-178916948-T-A c.335T>A p.Ile112Asn Missense 2/21 - 2
3-178916950-CCTC-C c.337_339del p.Leu113del InFrameDeletion 2/21 - 2
3-178916950-C-T c.337C>T p.Leu113Phe Missense 2/21 - 1
3-178916956-C-T c.343C>T p.Arg115* Nonsense 2/21 - 1
3-178916957-G-T c.344G>T p.Arg115Leu Missense 2/21 - 8
3-178916957-G-C c.344G>C p.Arg115Pro Missense 2/21 - 6
3-178916959-G-A c.346G>A p.Glu116Lys Missense 2/21 - 2
3-178916960-A-G c.347A>G p.Glu116Gly Missense 2/21 - 1
3-178916965-G-A c.352G>A p.Gly118Ser Missense 2/21 - 1
3-178917005-A-G c.352+40A>G - IntronicSNV - 2/20 5
3-178917420-AA-A c.353-58del - IntronicDeletion - 2/20 1
3-178917478-G-A c.353G>A p.Gly118Asp Missense 3/21 - 43
3-178917490-G-A c.365G>A p.Gly122Asp Missense 3/21 - 1
3-178917495-C-A c.370C>A p.Pro124Thr Missense 3/21 - 2
3-178917496-C-T c.371C>T p.Pro124Leu Missense 3/21 - 5
3-178917499-T-C c.374T>C p.Val125Ala Missense 3/21 - 6
3-178917501-T-G c.376T>G p.Cys126Gly Missense 3/21 - 1
3-178917510-GAT-AAG c.385_387delinsAAG p.Asp129Lys Missense 3/21 - 2
3-178917511-A-C c.386A>C p.Asp129Ala Missense 3/21 - 1
3-178917513-A-T c.388A>T p.Met130Leu Missense 3/21 - 1
3-178917513-A-C c.388A>C p.Met130Leu Missense 3/21 - 1
3-178917519-A-G c.394A>G p.Lys132Glu Missense 3/21 - 1
3-178917520-A-G c.395A>G p.Lys132Arg Missense 3/21 - 1
3-178917523-A-C c.398A>C p.Asp133Ala Missense 3/21 - 1
3-178917525-C-T c.400C>T p.Pro134Ser Missense 3/21 - 1
3-178917528-G-A c.403G>A p.Glu135Lys Missense 3/21 - 2
3-178917534-C-T c.409C>T p.Gln137* Nonsense 3/21 - 1
3-178917538-A-C c.413A>C p.Asp138Ala Missense 3/21 - 1
3-178917543-CG-GC c.418_419delinsGC p.Arg140Ala Missense 3/21 - 1
3-178917543-C-T c.418C>T p.Arg140* Nonsense 3/21 - 1
3-178917543-CGA-ATG c.418_420delinsATG p.Arg140Met Missense 3/21 - 3
3-178917544-G-A c.419G>A p.Arg140Gln Missense 3/21 - 6
3-178917546-AGA-TGG c.421_423delinsTGG p.Arg141Trp Missense 3/21 - 2
3-178917546-A-G c.421A>G p.Arg141Gly Missense 3/21 - 1
3-178917547-G-A c.422G>A p.Arg141Lys Missense 3/21 - 1
3-178917552-A-G c.427A>G p.Ile143Val Missense 3/21 - 1
3-178917553-T-C c.428T>C p.Ile143Thr Missense 3/21 - 1
3-178917555-CTG-TTT c.430_432delinsTTT p.Leu144Phe Missense 3/21 - 2
3-178917560-C-G c.435C>G p.Asn145Lys Missense 3/21 - 1
3-178917560-C-A c.435C>A p.Asn145Lys Missense 3/21 - 1
3-178917561-G-A c.436G>A p.Val146Ile Missense 3/21 - 2
3-178917564-T-A c.439T>A p.Cys147Ser Missense 3/21 - 1
3-178917565-G-C c.440G>C p.Cys147Ser Missense 3/21 - 1
3-178917564-TG-GC c.439_440delinsGC p.Cys147Ala Missense 3/21 - 1
3-178917567-AA-GC c.442_443delinsGC p.Lys148Ala Missense 3/21 - 1
3-178917568-A-G c.443A>G p.Lys148Arg Missense 3/21 - 2
3-178917571-A-C c.446A>C p.Glu149Ala Missense 3/21 - 1
3-178917579-GA-TG c.454_455delinsTG p.Asp152Cys Missense 3/21 - 1
3-178917582-CT-AG c.457_458inv p.Leu153Ser Missense 3/21 - 1
3-178917585-AG-GC c.460_461delinsGC p.Arg154Ala Missense 3/21 - 1
3-178917594-AA-GC c.469_470delinsGC p.Asn157Ala Missense 3/21 - 2
3-178917597-T-G c.472T>G p.Ser158Ala Missense 3/21 - 1
3-178917605-T-A c.480T>A p.His160Gln Missense 3/21 - 1
3-178917605-T-G c.480T>G p.His160Gln Missense 3/21 - 1
3-178917609-A-T c.484A>T p.Arg162* Nonsense 3/21 - 1
3-178917619-A-G c.494A>G p.Tyr165Cys Missense 3/21 - 2
3-178917628-C-T c.503C>T p.Pro168Leu Missense 3/21 - 1
3-178917642-T-A c.517T>A p.Ser173Thr Missense 3/21 - 1
3-178917642-T-G c.517T>G p.Ser173Ala Missense 3/21 - 1
3-178917648-C-T c.523C>T p.Pro175Ser Missense 3/21 - 1
3-178917648-C-G c.523C>G p.Pro175Ala Missense 3/21 - 2
3-178917657-C-T c.532C>T p.Pro178Ser Missense 3/21 - 1
3-178917657-C-G c.532C>G p.Pro178Ala Missense 3/21 - 2
3-178917660-AAG-GAC c.535_537delinsGAC p.Lys179Asp Missense 3/21 - 4
3-178917660-AA-GC c.535_536delinsGC p.Lys179Ala Missense 3/21 - 36
3-178917661-A-G c.536A>G p.Lys179Arg Missense 3/21 - 1
3-178917661-A-T c.536A>T p.Lys179Met Missense 3/21 - 73
3-178917670-A-C c.545A>C p.Tyr182Ser Missense 3/21 - 1
3-178917670-A-T c.545A>T p.Tyr182Phe Missense 3/21 - 1
3-178917675-AA-CC c.550_551delinsCC p.Lys184Pro Missense 3/21 - 1
3-178917682-A-T c.557A>T p.Asp186Val Missense 3/21 - 1
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.Gly188Asp Missense 4/21 - 1
3-178919088-A-G c.573A>G p.Ile191Met Missense 4/21 - 1
3-178919110-TC-GA c.595_596inv p.Ser199Asp Missense 4/21 - 1
3-178919119-A-G c.604A>G p.Asn202Asp Missense 4/21 - 1
3-178919123-A-C c.608A>C p.Asp203Ala Missense 4/21 - 1
3-178919125-AA-GC c.610_611delinsGC p.Lys204Ala Missense 4/21 - 1
3-178919128-C-G c.613C>G p.Gln205Glu Missense 4/21 - 1
3-178919129-A-T c.614A>T p.Gln205Leu Missense 4/21 - 5
3-178919132-AG-TC c.617_618delinsTC p.Lys206Ile Missense 4/21 - 1
3-178919135-A-T c.620A>T p.Tyr207Phe Missense 4/21 - 1
3-178919136-T-A c.621T>A p.Tyr207* Nonsense 4/21 - 1
3-178919136-T-G c.621T>G p.Tyr207* Nonsense 4/21 - 1
3-178919137-AC-GA c.622_623delinsGA p.Thr208Asp Missense 4/21 - 11
3-178919143-AA-GC c.628_629delinsGC p.Lys210Ala Missense 4/21 - 1
3-178919143-A-G c.628A>G p.Lys210Glu Missense 4/21 - 1
3-178919147-T-G c.632T>G p.Ile211Ser Missense 4/21 - 1
3-178919149-A-G c.634A>G p.Asn212Asp Missense 4/21 - 2
3-178919149-AAC-GAG c.634_636delinsGAG p.Asn212Glu Missense 4/21 - 2
3-178919152-C-T c.637C>T p.His213Tyr Missense 4/21 - 1
3-178919159-G-C c.644G>C p.Cys215Ser Missense 4/21 - 3
3-178919158-T-A c.643T>A p.Cys215Ser Missense 4/21 - 3
3-178919161-GTA-ATG c.646_648delinsATG p.Val216Met Missense 4/21 - 1
3-178919164-CC-AA c.649_650delinsAA p.Pro217Lys Missense 4/21 - 1
3-178919167-G-C c.652G>C p.Glu218Gln Missense 4/21 - 1
3-178919167-G-A c.652G>A p.Glu218Lys Missense 4/21 - 3
3-178919167-GA-AG c.652_653delinsAG p.Glu218Arg Missense 4/21 - 2
3-178919170-C-T c.655C>T p.Gln219* Nonsense 4/21 - 1
3-178919171-A-G c.656A>G p.Gln219Arg Missense 4/21 - 1
3-178919177-T-C c.662T>C p.Ile221Thr Missense 4/21 - 1
3-178919180-C-T c.665C>T p.Ala222Val Missense 4/21 - 1
3-178919185-GC-CT c.670_671delinsCT p.Ala224Leu Missense 4/21 - 2
3-178919186-C-T c.671C>T p.Ala224Val Missense 4/21 - 1
3-178919189-T-A c.674T>A p.Ile225Asn Missense 4/21 - 1
3-178919191-AG-GC c.676_677delinsGC p.Arg226Ala Missense 4/21 - 1
3-178919192-G-A c.677G>A p.Arg226Lys Missense 4/21 - 1
3-178919193-GG-G c.678del p.Thr229Leufs*11 Frameshift 4/21 - 1
3-178919194-A-C c.679A>C p.Lys227Gln Missense 4/21 - 2
3-178919194-A-G c.679A>G p.Lys227Glu Missense 4/21 - 20
3-178919194-AA-GC c.679_680delinsGC p.Lys227Ala Missense 4/21 - 13
3-178919197-A-G c.682A>G p.Lys228Glu Missense 4/21 - 1
3-178919200-A-G c.685A>G p.Thr229Ala Missense 4/21 - 1
3-178919201-C-T c.686C>T p.Thr229Ile Missense 4/21 - 1
3-178919203-C-G c.688C>G p.Arg230Gly Missense 4/21 - 1
3-178919203-CG-GA c.688_689delinsGA p.Arg230Glu Missense 4/21 - 1
3-178919206-AG-GC c.691_692delinsGC p.Ser231Ala Missense 4/21 - 4
3-178919210-T-C c.695T>C p.Met232Thr Missense 4/21 - 2
3-178919210-T-A c.695T>A p.Met232Lys Missense 4/21 - 2
3-178919212-TT-AA c.697_698inv p.Leu233Lys Missense 4/21 - 2
3-178919215-CTA-TTT c.700_702delinsTTT p.Leu234Phe Missense 4/21 - 1
3-178919215-CT-GC c.700_701delinsGC p.Leu234Ala Missense 4/21 - 1
3-178919218-T-G c.703T>G p.Ser235Ala Missense 4/21 - 4
3-178919218-TC-GA c.703_704inv p.Ser235Asp Missense 4/21 - 1
3-178919221-T-G c.706T>G p.Ser236Ala Missense 4/21 - 1
3-178919231-T-C c.716T>C p.Leu239Pro Missense 4/21 - 1
3-178919236-C-G c.721C>G p.Leu241Val Missense 4/21 - 1
3-178919239-TG-AC c.724_725delinsAC p.Cys242Thr Missense 4/21 - 3
3-178919239-T-A c.724T>A p.Cys242Ser Missense 4/21 - 1
3-178919240-G-C c.725G>C p.Cys242Ser Missense 4/21 - 1
3-178919240-G-A c.725G>A p.Cys242Tyr Missense 4/21 - 2
3-178919240-G-T c.725G>T p.Cys242Phe Missense 4/21 - 1
3-178919241-T-C c.726T>C p.Cys242Cys Synonymous 4/21 - 1
3-178919248-G-A c.733G>A p.Glu245Lys Missense 4/21 - 1
3-178919248-G-T c.733G>T p.Glu245* Nonsense 4/21 - 1
3-178919256-G-GA c.741_742insA p.Gly248Argfs*11 Frameshift 4/21 - 1
3-178919258-G-A c.743G>A p.Gly248Asp Missense 4/21 - 1
3-178919258-G-T c.743G>T p.Gly248Val Missense 4/21 - 1
3-178919260-A-G c.745A>G p.Lys249Glu Missense 4/21 - 2
3-178919262-G-T c.747G>T p.Lys249Asn Missense 4/21 - 1
3-178919264-A-C c.749A>C p.Tyr250Ser Missense 4/21 - 3
3-178919264-A-T c.749A>T p.Tyr250Phe Missense 4/21 - 7
3-178919274-A-C c.759A>C p.Lys253Asn Missense 4/21 - 1
3-178919274-A-T c.759A>T p.Lys253Asn Missense 4/21 - 1
3-178919284-T-G c.769T>G p.Cys257Gly Missense 4/21 - 1
3-178919287-G-T c.772G>T p.Asp258Tyr Missense 4/21 - 1
3-178919287-G-C c.772G>C p.Asp258His Missense 4/21 - 1
3-178919288-A-C c.773A>C p.Asp258Ala Missense 4/21 - 2
3-178919290-G-A c.775G>A p.Glu259Lys Missense 4/21 - 1
3-178919293-TA-GC c.778_779delinsGC p.Tyr260Ala Missense 4/21 - 1
3-178919327-A-G c.812A>G p.Lys271Arg Missense 4/21 - 1
3-178921335-A-G c.817A>G p.Ile273Val Missense 5/21 - 2
3-178921337-A-C c.819A>C p.Ile273Ile Synonymous 5/21 - 1
3-178921338-AG-GC c.820_821delinsGC p.Arg274Ala Missense 5/21 - 6
3-178921338-AGA-CAT c.820_822delinsCAT p.Arg274His Missense 5/21 - 4
3-178921339-G-A c.821G>A p.Arg274Lys Missense 5/21 - 1
3-178921357-G-A c.839G>A p.Gly280Glu Missense 5/21 - 1
3-178921357-G-T c.839G>T p.Gly280Val Missense 5/21 - 1
3-178921359-A-T c.841A>T p.Arg281Trp Missense 5/21 - 1
3-178921359-AGG-TGT c.841_843delinsTGT p.Arg281Cys Missense 5/21 - 1
3-178921365-C-T c.847C>T p.Pro283Ser Missense 5/21 - 1
3-178921371-T-A c.853T>A p.Leu285Met Missense 5/21 - 1
3-178921384-C-T c.866C>T p.Ala289Val Missense 5/21 - 1
3-178921387-AA-TG c.869_870delinsTG p.Lys290Met Missense 5/21 - 1
3-178921387-A-G c.869A>G p.Lys290Arg Missense 5/21 - 1
3-178921395-CT-AC c.877_878delinsAC p.Leu293Thr Missense 5/21 - 1
3-178921400-T-C c.882T>C p.Tyr294Tyr Synonymous 5/21 - 2
3-178921401-T-G c.883T>G p.Ser295Ala Missense 5/21 - 2
3-178921404-C-G c.886C>G p.Gln296Glu Missense 5/21 - 1
3-178921407-CT-GC c.889_890delinsGC p.Leu297Ala Missense 5/21 - 1
3-178921407-C-G c.889C>G p.Leu297Val Missense 5/21 - 1
3-178921413-A-G c.895A>G p.Met299Val Missense 5/21 - 1
3-178921418-C-A c.900C>A p.Asp300Glu Missense 5/21 - 9
3-178921418-C-G c.900C>G p.Asp300Glu Missense 5/21 - 9
3-178921422-TTT-AAG c.904_906delinsAAG p.Phe302Lys Missense 5/21 - 1
3-178921422-TT-GC c.904_905delinsGC p.Phe302Ala Missense 5/21 - 1
3-178921434-T-C c.916T>C p.Ser306Pro Missense 5/21 - 1
3-178921440-T-G c.922T>G p.Ser308Ala Missense 5/21 - 3
3-178921446-C-T c.928C>T p.Arg310Cys Missense 5/21 - 1
3-178921452-T-G c.934T>G p.Ser312Ala Missense 5/21 - 1
3-178921453-C-G c.935C>G p.Ser312Cys Missense 5/21 - 1
3-178921458-G-A c.940G>A p.Ala314Thr Missense 5/21 - 1
3-178921459-C-G c.941C>G p.Ala314Gly Missense 5/21 - 1
3-178921461-A-G c.943A>G p.Thr315Ala Missense 5/21 - 2
3-178921461-AC-CT c.943_944delinsCT p.Thr315Leu Missense 5/21 - 1
3-178921462-C-T c.944C>T p.Thr315Ile Missense 5/21 - 143
3-178921468-A-T c.950A>T p.Tyr317Phe Missense 5/21 - 5
3-178921471-T-G c.953T>G p.Met318Arg Missense 5/21 - 1
3-178921475-T-G c.957T>G p.Asn319Lys Missense 5/21 - 1
3-178921475-T-A c.957T>A p.Asn319Lys Missense 5/21 - 1
3-178921477-G-A c.959G>A p.Gly320Glu Missense 5/21 - 1
3-178921485-TC-CT c.967_968delinsCT p.Ser323Leu Missense 5/21 - 1
3-178921488-A-C c.970A>C p.Thr324Pro Missense 5/21 - 1
3-178921488-A-G c.970A>G p.Thr324Ala Missense 5/21 - 1
3-178921489-C-T c.971C>T p.Thr324Ile Missense 5/21 - 3
3-178921494-TCC-GAG c.976_978delinsGAG p.Ser326Glu Missense 5/21 - 1
3-178921494-T-G c.976T>G p.Ser326Ala Missense 5/21 - 1
3-178921494-TC-GA c.976_977inv p.Ser326Asp Missense 5/21 - 1
3-178921495-C-A c.977C>A p.Ser326Tyr Missense 5/21 - 1
3-178921495-C-T c.977C>T p.Ser326Phe Missense 5/21 - 3
3-178921495-C-G c.977C>G p.Ser326Cys Missense 5/21 - 1
3-178921497-C-T c.979C>T p.Leu327Phe Missense 5/21 - 1
3-178921512-AG-GC c.994_995delinsGC p.Ser332Ala Missense 5/21 - 3
3-178921515-GCA-TTT c.997_999delinsTTT p.Ala333Phe Missense 5/21 - 1
3-178921519-TC-AA c.1001_1002delinsAA p.Leu334Gln Missense 5/21 - 1
3-178921523-A-T c.1005A>T p.Arg335Ser Missense 5/21 - 1
3-178921523-A-C c.1005A>C p.Arg335Ser Missense 5/21 - 1
3-178921530-AT-GC c.1012_1013delinsGC p.Ile338Ala Missense 5/21 - 1
3-178921531-T-C c.1013T>C p.Ile338Thr Missense 5/21 - 1
3-178921533-C-A c.1015C>A p.Leu339Ile Missense 5/21 - 1
3-178921533-C-T c.1015C>T p.Leu339Phe Missense 5/21 - 1
3-178921542-AC-GA c.1024_1025delinsGA p.Thr342Asp Missense 5/21 - 2
3-178921542-A-G c.1024A>G p.Thr342Ala Missense 5/21 - 1
3-178921546-A-T c.1028A>T p.Tyr343Phe Missense 5/21 - 6
3-178921546-A-G c.1028A>G p.Tyr343Cys Missense 5/21 - 3
3-178921548-G-A c.1030G>A p.Val344Met Missense 5/21 - 18
3-178921548-GT-AG c.1030_1031delinsAG p.Val344Arg Missense 5/21 - 1
3-178921549-T-G c.1031T>G p.Val344Gly Missense 5/21 - 16
3-178921549-T-C c.1031T>C p.Val344Ala Missense 5/21 - 1
3-178921551-AA-CT c.1033_1034delinsCT p.Asn345Leu Missense 5/21 - 2
3-178921551-A-G c.1033A>G p.Asn345Asp Missense 5/21 - 2
3-178921551-A-C c.1033A>C p.Asn345His Missense 5/21 - 1
3-178921552-A-T c.1034A>T p.Asn345Ile Missense 5/21 - 10
3-178921552-A-G c.1034A>G p.Asn345Ser Missense 5/21 - 1
3-178921552-A-C c.1034A>C p.Asn345Thr Missense 5/21 - 5
3-178921553-T-A c.1035T>A p.Asn345Lys Missense 5/21 - 133
3-178921555-T-A c.1037T>A p.Val346Glu Missense 5/21 - 1
3-178921558-A-C c.1040A>C p.Asn347Thr Missense 5/21 - 1
3-178921563-CG-GC c.1045_1046delinsGC p.Arg349Ala Missense 5/21 - 1
3-178921563-C-T c.1045C>T p.Arg349* Nonsense 5/21 - 1
3-178921566-G-T c.1048G>T p.Asp350Tyr Missense 5/21 - 1
3-178921566-G-C c.1048G>C p.Asp350His Missense 5/21 - 1
3-178921566-G-A c.1048G>A p.Asp350Asn Missense 5/21 - 7
3-178921567-A-G c.1049A>G p.Asp350Gly Missense 5/21 - 13
3-178921639-C-A c.1059+62C>A - IntronicSNV - 5/20 1
3-178922274-C-G c.1060-17C>G - IntronicSNV - 5/20 1
3-178922274-C-A c.1060-17C>A - IntronicSNV - 5/20 1
3-178922295-A-T c.1064A>T p.Tyr355Phe Missense 6/21 - 1
3-178922297-G-A c.1066G>A p.Val356Ile Missense 6/21 - 2
3-178922299-TT-T c.1068del p.Arg357Glufs*15 Frameshift 6/21 - 1
3-178922301-G-A c.1070G>A p.Arg357Gln Missense 6/21 - 1
3-178922301-G-T c.1070G>T p.Arg357Leu Missense 6/21 - 1
3-178922306-G-C c.1075G>C p.Gly359Arg Missense 6/21 - 1
3-178922307-GT-AG c.1076_1077delinsAG p.Gly359Glu Missense 6/21 - 1
3-178922313-A-T c.1082A>T p.Tyr361Phe Missense 6/21 - 1
3-178922315-CCAT-C c.1084_1086del p.His362del InFrameDeletion 6/21 - 1
3-178922318-G-C c.1087G>C p.Gly363Arg Missense 6/21 - 1
3-178922318-G-A c.1087G>A p.Gly363Arg Missense 6/21 - 1
3-178922319-G-C c.1088G>C p.Gly363Ala Missense 6/21 - 5
3-178922321-G-A c.1090G>A p.Gly364Arg Missense 6/21 - 7
3-178922321-GGA-AGC c.1090_1092delinsAGC p.Gly364Ser Missense 6/21 - 2
3-178922324-G-C c.1093G>C p.Glu365Gln Missense 6/21 - 1
3-178922324-G-A c.1093G>A p.Glu365Lys Missense 6/21 - 20
3-178922328-C-G c.1097C>G p.Pro366Arg Missense 6/21 - 1
3-178922340-A-G c.1109A>G p.Asn370Ser Missense 6/21 - 3
3-178922348-AC-TG c.1117_1118delinsTG p.Thr373Cys Missense 6/21 - 1
3-178922354-AGA-CAT c.1123_1125delinsCAT p.Arg375His Missense 6/21 - 1
3-178922354-AG-CA c.1123_1124delinsCA p.Arg375Gln Missense 6/21 - 1
3-178922361-C-G c.1130C>G p.Pro377Arg Missense 6/21 - 1
3-178922361-C-T c.1130C>T p.Pro377Leu Missense 6/21 - 1
3-178922363-T-C c.1132T>C p.Cys378Arg Missense 6/21 - 7
3-178922364-G-A c.1133G>A p.Cys378Tyr Missense 6/21 - 6
3-178922364-G-T c.1133G>T p.Cys378Phe Missense 6/21 - 2
3-178922365-T-G c.1134T>G p.Cys378Trp Missense 6/21 - 1
3-178922366-TC-CG c.1135_1136delinsCG p.Ser379Arg Missense 6/21 - 2
3-178922366-TCC-GAG c.1135_1137delinsGAG p.Ser379Glu Missense 6/21 - 1
3-178922366-T-A c.1135T>A p.Ser379Thr Missense 6/21 - 1
3-178922366-T-G c.1135T>G p.Ser379Ala Missense 6/21 - 1
3-178922370-A-G c.1139A>G p.Asn380Ser Missense 6/21 - 1
3-178922372-C-T c.1141C>T p.Pro381Ser Missense 6/21 - 1
3-178922373-CC-AA c.1142_1143delinsAA p.Pro381Gln Missense 6/21 - 1
3-178922374-C-A c.1143C>A p.Pro381Pro Synonymous 6/21 - 2
3-178922374-C-G c.1143C>G p.Pro381Pro Synonymous 6/21 - 2
3-178922374-C-T c.1143C>T p.Pro381Pro Synonymous 6/21 - 2
3-178922376-G-A c.1145G>A p.Arg382Lys Missense 6/21 - 2
3-178923807-C-T c.1145+1431C>T - IntronicSNV - 6/20 6
3-178923807-C-A c.1145+1431C>A - IntronicSNV - 6/20 6
3-178927345-T-C c.1146-38T>C - IntronicSNV - 6/20 1
3-178927396-C-G c.1159C>G p.Leu387Val Missense 7/21 - 1
3-178927401-T-A c.1164T>A p.Asn388Lys Missense 7/21 - 1
3-178927401-T-G c.1164T>G p.Asn388Lys Missense 7/21 - 1
3-178927408-A-C c.1171A>C p.Ile391Leu Missense 7/21 - 1
3-178927408-A-T c.1171A>T p.Ile391Leu Missense 7/21 - 1
3-178927410-A-G c.1173A>G p.Ile391Met Missense 7/21 - 40
3-178927414-AT-GC c.1177_1178delinsGC p.Ile393Ala Missense 7/21 - 2
3-178927421-A-C c.1184A>C p.Asp395Ala Missense 7/21 - 1
3-178927423-C-CGG c.1186_1187insGG p.Leu396Argfs*33 Frameshift 7/21 - 1
3-178927427-C-T c.1190C>T p.Pro397Leu Missense 7/21 - 1
3-178927427-C-A c.1190C>A p.Pro397His Missense 7/21 - 1
3-178927429-CG-GC c.1192_1193delinsGC p.Arg398Ala Missense 7/21 - 1
3-178927438-CGA-TGT c.1201_1203delinsTGT p.Arg401Cys Missense 7/21 - 1
3-178927439-GA-AT c.1202_1203delinsAT p.Arg401His Missense 7/21 - 1
3-178927439-G-A c.1202G>A p.Arg401Gln Missense 7/21 - 1
3-178927441-CTT-GAG c.1204_1206delinsGAG p.Leu402Glu Missense 7/21 - 1
3-178927444-TG-GC c.1207_1208delinsGC p.Cys403Ala Missense 7/21 - 1
3-178927447-CT-AG c.1210_1211inv p.Leu404Ser Missense 7/21 - 1
3-178927450-T-G c.1213T>G p.Ser405Ala Missense 7/21 - 1
3-178927451-C-T c.1214C>T p.Ser405Phe Missense 7/21 - 1
3-178927452-C-A c.1215C>A p.Ser405Ser Synonymous 7/21 - 4
3-178927452-C-G c.1215C>G p.Ser405Ser Synonymous 7/21 - 4
3-178927452-C-T c.1215C>T p.Ser405Ser Synonymous 7/21 - 4
3-178927458-C-G c.1221C>G p.Cys407Trp Missense 7/21 - 1
3-178927459-TCT-GAG c.1222_1224delinsGAG p.Ser408Glu Missense 7/21 - 1
3-178927459-T-G c.1222T>G p.Ser408Ala Missense 7/21 - 2
3-178927462-G-C c.1225G>C p.Val409Leu Missense 7/21 - 1
3-178927468-G-A c.1231G>A p.Gly411Ser Missense 7/21 - 1
3-178927471-CGA-AGC c.1234_1236delinsAGC p.Arg412Ser Missense 7/21 - 1
3-178927480-G-A c.1243G>A p.Ala415Thr Missense 7/21 - 1
3-178927481-C-G c.1244C>G p.Ala415Gly Missense 7/21 - 2
3-178927483-A-G c.1246A>G p.Lys416Glu Missense 7/21 - 1
3-178927947-A-G c.1252-27A>G - IntronicSNV - 7/20 1
3-178927974-G-A c.1252G>A p.Glu418Lys Missense 8/21 - 16
3-178927975-A-G c.1253A>G p.Glu418Gly Missense 8/21 - 1
3-178927978-CACTGTC-C c.1256_1261del p.His419_Cys420del InFrameDeletion 8/21 - 1
3-178927978-A-G c.1256A>G p.His419Arg Missense 8/21 - 1
3-178927981-G-C c.1259G>C p.Cys420Ser Missense 8/21 - 1
3-178927980-T-C c.1258T>C p.Cys420Arg Missense 8/21 - 145
3-178927980-T-A c.1258T>A p.Cys420Ser Missense 8/21 - 1
3-178927980-TG-CT c.1258_1259delinsCT p.Cys420Leu Missense 8/21 - 1
3-178927980-TGT-AAG c.1258_1260delinsAAG p.Cys420Lys Missense 8/21 - 2
3-178927990-C-T c.1268C>T p.Ala423Val Missense 8/21 - 1
3-178927993-G-A c.1271G>A p.Trp424* Nonsense 8/21 - 1
3-178928001-A-G c.1279A>G p.Ile427Val Missense 8/21 - 2
3-178928002-T-C c.1280T>C p.Ile427Thr Missense 8/21 - 1
3-178928008-T-G c.1286T>G p.Leu429Trp Missense 8/21 - 1
3-178928010-TT-GC c.1288_1289delinsGC p.Phe430Ala Missense 8/21 - 1
3-178928010-T-C c.1288T>C p.Phe430Leu Missense 8/21 - 1
3-178928012-T-G c.1290T>G p.Phe430Leu Missense 8/21 - 1
3-178928012-T-A c.1290T>A p.Phe430Leu Missense 8/21 - 1
3-178928013-GA-AT c.1291_1292delinsAT p.Asp431Ile Missense 8/21 - 1
3-178928022-G-A c.1300G>A p.Asp434Asn Missense 8/21 - 1
3-178928025-A-G c.1303A>G p.Thr435Ala Missense 8/21 - 1
3-178928035-C-T c.1313C>T p.Ser438Phe Missense 8/21 - 1
3-178928055-CTT-ATG c.1333_1335delinsATG p.Leu445Met Missense 8/21 - 1
3-178928057-T-A c.1335T>A p.Leu445Leu Synonymous 8/21 - 1
3-178928062-CCAGTACCTCATGGATTAGAAGATTTGC-C c.1340_1366del p.Pro447_Leu455del InFrameDeletion 8/21 - 1
3-178928065-T-C c.1343T>C p.Val448Ala Missense 8/21 - 1
3-178928067-C-A c.1345C>A p.Pro449Thr Missense 8/21 - 37
3-178928068-C-T c.1346C>T p.Pro449Leu Missense 8/21 - 1
3-178928068-C-G c.1346C>G p.Pro449Arg Missense 8/21 - 1
3-178928070-C-T c.1348C>T p.His450Tyr Missense 8/21 - 1
3-178928071-A-G c.1349A>G p.His450Arg Missense 8/21 - 1
3-178928073-TGGATTAGAAGAT-T c.1351_1362del p.Gly451_Asp454del InFrameDeletion 8/21 - 1
3-178928079-G-A c.1357G>A p.Glu453Lys Missense 8/21 - 46
3-178928079-GAA-AAC c.1357_1359delinsAAC p.Glu453Asn Missense 8/21 - 1
3-178928079-G-C c.1357G>C p.Glu453Gln Missense 8/21 - 8
3-178928080-A-C c.1358A>C p.Glu453Ala Missense 8/21 - 2
3-178928081-AAGA-A c.1359_1361del p.Glu453del InFrameDeletion 8/21 - 10
3-178928084-T-G c.1362T>G p.Asp454Glu Missense 8/21 - 1
3-178928084-T-A c.1362T>A p.Asp454Glu Missense 8/21 - 1
3-178928085-TTTG-T c.1363_1365del p.Leu456del InFrameDeletion 8/21 - 3
3-178928088-GCTG-G c.1366_1368del p.Leu456del InFrameDeletion 8/21 - 1
3-178928088-CT-TC c.1366_1367delinsTC p.Leu456Ser Missense 8/21 - 1
3-178928088-C-G c.1366C>G p.Leu456Val Missense 8/21 - 1
3-178928088-C-A c.1366C>A p.Leu456Met Missense 8/21 - 1
3-178928089-T-A c.1367T>A p.Leu456Gln Missense 8/21 - 1
3-178928094-CCCT-C c.1372_1374del p.Pro458del InFrameDeletion 8/21 - 1
3-178928097-A-G c.1375A>G p.Ile459Val Missense 8/21 - 1
3-178928109-GGA-TGT c.1387_1389delinsTGT p.Gly463Cys Missense 8/21 - 1
3-178928110-G-T c.1388G>T p.Gly463Val Missense 8/21 - 1
3-178928110-G-C c.1388G>C p.Gly463Ala Missense 8/21 - 1
3-178928110-G-A c.1388G>A p.Gly463Glu Missense 8/21 - 1
3-178928136-T-G c.1404+10T>G - IntronicSNV - 8/20 1
3-178928219-G-A c.1405G>A p.Glu469Lys Missense 9/21 - 2
3-178928220-A-G c.1406A>G p.Glu469Gly Missense 9/21 - 2
3-178928222-AC-GA c.1408_1409delinsGA p.Thr470Asp Missense 9/21 - 1
3-178928222-ACT-GAG c.1408_1410delinsGAG p.Thr470Glu Missense 9/21 - 1
3-178928222-A-G c.1408A>G p.Thr470Ala Missense 9/21 - 5
3-178928226-C-T c.1412C>T p.Pro471Leu Missense 9/21 - 7
3-178928229-G-A c.1415G>A p.Cys472Tyr Missense 9/21 - 2
3-178928232-T-TTGAGTT c.1418_1419insTGAGTT p.Cys472_Leu473insPheGlu InFrameInsertion 9/21 - 1
3-178928235-A-C c.1421A>C p.Glu474Ala Missense 9/21 - 1
3-178928240-G-C c.1426G>C p.Glu476Gln Missense 9/21 - 2
3-178928246-G-T c.1432G>T p.Asp478Tyr Missense 9/21 - 2
3-178928271-T-C c.1457T>C p.Phe486Ser Missense 9/21 - 2
3-178928273-C-T c.1459C>T p.Pro487Ser Missense 9/21 - 1
3-178928274-C-T c.1460C>T p.Pro487Leu Missense 9/21 - 1
3-178928276-G-A c.1462G>A p.Asp488Asn Missense 9/21 - 1
3-178928277-A-C c.1463A>C p.Asp488Ala Missense 9/21 - 2
3-178928282-T-A c.1468T>A p.Ser490Thr Missense 9/21 - 1
3-178928291-G-A c.1477G>A p.Glu493Lys Missense 9/21 - 1
3-178928294-G-A c.1480G>A p.Glu494Lys Missense 9/21 - 1
3-178928300-G-T c.1486G>T p.Ala496Ser Missense 9/21 - 1
3-178928304-A-G c.1490A>G p.Asn497Ser Missense 9/21 - 2
3-178928306-T-C c.1492T>C p.Trp498Arg Missense 9/21 - 1
3-178928306-T-A c.1492T>A p.Trp498Arg Missense 9/21 - 1
3-178928309-T-G c.1495T>G p.Ser499Ala Missense 9/21 - 1
3-178928310-C-T c.1496C>T p.Ser499Phe Missense 9/21 - 1
3-178928312-GTA-TGT c.1498_1500delinsTGT p.Val500Cys Missense 9/21 - 1
3-178928315-T-G c.1501T>G p.Ser501Ala Missense 9/21 - 4
3-178928315-TC-GA c.1501_1502inv p.Ser501Asp Missense 9/21 - 1
3-178928319-G-A c.1505G>A p.Arg502Gln Missense 9/21 - 1
3-178928333-AG-GC c.1519_1520delinsGC p.Ser507Ala Missense 9/21 - 1
3-178928337-A-T c.1523A>T p.Tyr508Phe Missense 9/21 - 8
3-178928339-T-G c.1525T>G p.Ser509Ala Missense 9/21 - 1
3-178928342-C-A c.1528C>A p.His510Asn Missense 9/21 - 2
3-178928342-CA-GC c.1528_1529delinsGC p.His510Ala Missense 9/21 - 3
3-178935943-C-T c.1540-55C>T - IntronicSNV - 9/20 1
3-178935998-AG-TT c.1540_1541delinsTT p.Ser514Phe Missense 10/21 - 2
3-178935998-A-G c.1540A>G p.Ser514Gly Missense 10/21 - 1
3-178936002-A-G c.1544A>G p.Asn515Ser Missense 10/21 - 1
3-178936004-A-G c.1546A>G p.Arg516Gly Missense 10/21 - 1
3-178936013-A-G c.1555A>G p.Arg519Gly Missense 10/21 - 1
3-178936020-A-G c.1562A>G p.Asn521Ser Missense 10/21 - 1
3-178936022-G-A c.1564G>A p.Glu522Lys Missense 10/21 - 2
3-178936025-T-A c.1567T>A p.Leu523Ile Missense 10/21 - 1
3-178936026-T-C c.1568T>C p.Leu523Ser Missense 10/21 - 2
3-178936029-G-A c.1571G>A p.Arg524Lys Missense 10/21 - 8
3-178936029-G-T c.1571G>T p.Arg524Met Missense 10/21 - 1
3-178936031-G-A c.1573G>A p.Glu525Lys Missense 10/21 - 13
3-178936032-A-G c.1574A>G p.Glu525Gly Missense 10/21 - 1
3-178936032-A-C c.1574A>C p.Glu525Ala Missense 10/21 - 2
3-178936034-A-G c.1576A>G p.Asn526Asp Missense 10/21 - 1
3-178936037-G-A c.1579G>A p.Asp527Asn Missense 10/21 - 1
3-178936039-C-T c.1581C>T p.Asp527Asp Synonymous 10/21 - 1
3-178936045-A-AT c.1587_1588insT p.Gln530Serfs*13 Frameshift 10/21 - 1
3-178936047-A-G c.1589A>G p.Gln530Arg Missense 10/21 - 1
3-178936050-T-C c.1592T>C p.Leu531Pro Missense 10/21 - 1
3-178936052-AAA-GAC c.1594_1596delinsGAC p.Lys532Asp Missense 10/21 - 2
3-178936053-A-G c.1595A>G p.Lys532Arg Missense 10/21 - 2
3-178936055-G-A c.1597G>A p.Ala533Thr Missense 10/21 - 1
3-178936056-C-T c.1598C>T p.Ala533Val Missense 10/21 - 3
3-178936061-T-G c.1603T>G p.Ser535Ala Missense 10/21 - 3
3-178936064-A-G c.1606A>G p.Thr536Ala Missense 10/21 - 1
3-178936065-C-T c.1607C>T p.Thr536Ile Missense 10/21 - 1
3-178936067-C-T c.1609C>T p.Arg537* Nonsense 10/21 - 1
3-178936068-G-A c.1610G>A p.Arg537Gln Missense 10/21 - 2
3-178936070-G-A c.1612G>A p.Asp538Asn Missense 10/21 - 1
3-178936070-G-T c.1612G>T p.Asp538Tyr Missense 10/21 - 1
3-178936071-A-G c.1613A>G p.Asp538Gly Missense 10/21 - 9
3-178936073-C-T c.1615C>T p.Pro539Ser Missense 10/21 - 4
3-178936074-C-G c.1616C>G p.Pro539Arg Missense 10/21 - 40
3-178936074-C-T c.1616C>T p.Pro539Leu Missense 10/21 - 1
3-178936074-C-A c.1616C>A p.Pro539His Missense 10/21 - 1
3-178936076-C-T c.1618C>T p.Leu540Phe Missense 10/21 - 1
3-178936076-C-G c.1618C>G p.Leu540Val Missense 10/21 - 4
3-178936077-T-C c.1619T>C p.Leu540Pro Missense 10/21 - 1
3-178936079-T-C c.1621T>C p.Ser541Pro Missense 10/21 - 1
3-178936080-C-A c.1622C>A p.Ser541Tyr Missense 10/21 - 1
3-178936080-C-T c.1622C>T p.Ser541Phe Missense 10/21 - 3
3-178936081-T-C c.1623T>C p.Ser541Ser Synonymous 10/21 - 2
3-178936082-G-C c.1624G>C p.Glu542Gln Missense 10/21 - 25
3-178936082-G-A c.1624G>A p.Glu542Lys Missense 10/21 - 1022
3-178936082-G-T c.1624G>T p.Glu542* Nonsense 10/21 - 7
3-178936082-GA-AG c.1624_1625delinsAG p.Glu542Arg Missense 10/21 - 2
3-178936083-A-C c.1625A>C p.Glu542Ala Missense 10/21 - 9
3-178936083-A-T c.1625A>T p.Glu542Val Missense 10/21 - 18
3-178936083-A-G c.1625A>G p.Glu542Gly Missense 10/21 - 14
3-178936084-A-G c.1626A>G p.Glu542Glu Synonymous 10/21 - 4
3-178936084-A-T c.1626A>T p.Glu542Asp Missense 10/21 - 1
3-178936084-A-C c.1626A>C p.Glu542Asp Missense 10/21 - 1
3-178936085-A-G c.1627A>G p.Ile543Val Missense 10/21 - 1
3-178936086-T-C c.1628T>C p.Ile543Thr Missense 10/21 - 11
3-178936086-T-G c.1628T>G p.Ile543Ser Missense 10/21 - 1
3-178936087-C-G c.1629C>G p.Ile543Met Missense 10/21 - 1
3-178936087-C-T c.1629C>T p.Ile543Ile Synonymous 10/21 - 1
3-178936089-C-A c.1631C>A p.Thr544Asn Missense 10/21 - 2
3-178936091-GA-AG c.1633_1634delinsAG p.Glu545Arg Missense 10/21 - 4
3-178936091-GA-AC c.1633_1634delinsAC p.Glu545Thr Missense 10/21 - 1
3-178936091-GA-CT c.1633_1634delinsCT p.Glu545Leu Missense 10/21 - 2
3-178936091-G-A c.1633G>A p.Glu545Lys Missense 10/21 - 1517
3-178936091-G-C c.1633G>C p.Glu545Gln Missense 10/21 - 44
3-178936091-G-T c.1633G>T p.Glu545* Nonsense 10/21 - 14
3-178936091-GAG-ATC c.1633_1635delinsATC p.Glu545Ile Missense 10/21 - 1
3-178936092-A-G c.1634A>G p.Glu545Gly Missense 10/21 - 116
3-178936092-A-C c.1634A>C p.Glu545Ala Missense 10/21 - 127
3-178936092-A-T c.1634A>T p.Glu545Val Missense 10/21 - 7
3-178936093-G-A c.1635G>A p.Glu545Glu Synonymous 10/21 - 5
3-178936093-G-T c.1635G>T p.Glu545Asp Missense 10/21 - 54
3-178936094-C-G c.1636C>G p.Gln546Glu Missense 10/21 - 30
3-178936094-C-A c.1636C>A p.Gln546Lys Missense 10/21 - 128
3-178936094-C-T c.1636C>T p.Gln546* Nonsense 10/21 - 9
3-178936095-A-C c.1637A>C p.Gln546Pro Missense 10/21 - 28
3-178936095-A-G c.1637A>G p.Gln546Arg Missense 10/21 - 65
3-178936095-A-T c.1637A>T p.Gln546Leu Missense 10/21 - 18
3-178936096-G-A c.1638G>A p.Gln546Gln Synonymous 10/21 - 2
3-178936096-G-T c.1638G>T p.Gln546His Missense 10/21 - 17
3-178936097-G-A c.1639G>A p.Glu547Lys Missense 10/21 - 9
3-178936099-G-GT c.1641_1642insT p.Lys548* Nonsense 10/21 - 1
3-178936099-G-A c.1641G>A p.Glu547Glu Synonymous 10/21 - 1
3-178936102-A-G c.1644A>G p.Lys548Lys Synonymous 10/21 - 1
3-178936103-G-T c.1645G>T p.Asp549Tyr Missense 10/21 - 1
3-178936103-G-A c.1645G>A p.Asp549Asn Missense 10/21 - 15
3-178936103-G-C c.1645G>C p.Asp549His Missense 10/21 - 5
3-178936103-GA-TG c.1645_1646delinsTG p.Asp549Cys Missense 10/21 - 2
3-178936104-A-G c.1646A>G p.Asp549Gly Missense 10/21 - 2
3-178936105-T-A c.1647T>A p.Asp549Glu Missense 10/21 - 1
3-178936105-T-G c.1647T>G p.Asp549Glu Missense 10/21 - 1
3-178936109-C-T c.1651C>T p.Leu551Leu Synonymous 10/21 - 1
3-178936112-T-G c.1654T>G p.Trp552Gly Missense 10/21 - 1
3-178936113-G-A c.1655G>A p.Trp552* Nonsense 10/21 - 2
3-178936114-G-A c.1656G>A p.Trp552* Nonsense 10/21 - 3
3-178936116-AG-A c.1658del p.Ser553Ilefs*7 Frameshift 10/21 - 2
3-178936116-G-C c.1658G>C p.Ser553Thr Missense 10/21 - 3
3-178936116-G-A c.1658G>A p.Ser553Asn Missense 10/21 - 2
3-178936121-A-G c.1663A>G p.Arg555Gly Missense 10/21 - 1
3-178936121-AG-GA c.1663_1664delinsGA p.Arg555Glu Missense 10/21 - 1
3-178936122-G-A c.1664G>A p.Arg555Lys Missense 10/21 - 1
3-178936213-C-T c.1664+91C>T - IntronicSNV - 10/20 1
3-178936227-T-G c.1664+105T>G - IntronicSNV - 10/20 3
3-178936983-G-T c.1665-1G>T - IntronicSNV - 10/20 1
3-178936994-TGTA-T c.1675_1677del p.Val559del InFrameDeletion 11/21 - 1
3-178936994-G-A c.1675G>A p.Val559Ile Missense 11/21 - 1
3-178936995-T-G c.1676T>G p.Val559Gly Missense 11/21 - 1
3-178936995-TA-AC c.1676_1677delinsAC p.Val559Asp Missense 11/21 - 1
3-178936995-T-C c.1676T>C p.Val559Ala Missense 11/21 - 2
3-178936997-A-G c.1678A>G p.Thr560Ala Missense 11/21 - 2
3-178936997-AC-GA c.1678_1679delinsGA p.Thr560Asp Missense 11/21 - 1
3-178936997-ACT-GAG c.1678_1680delinsGAG p.Thr560Glu Missense 11/21 - 1
3-178937006-G-A c.1687G>A p.Glu563Lys Missense 11/21 - 1
3-178937007-A-G c.1688A>G p.Glu563Gly Missense 11/21 - 1
3-178937018-A-G c.1699A>G p.Lys567Glu Missense 11/21 - 2
3-178937019-A-G c.1700A>G p.Lys567Arg Missense 11/21 - 2
3-178937028-T-C c.1709T>C p.Leu570Pro Missense 11/21 - 1
3-178937030-TCT-GAG c.1711_1713delinsGAG p.Ser571Glu Missense 11/21 - 1
3-178937030-T-G c.1711T>G p.Ser571Ala Missense 11/21 - 1
3-178937044-T-G c.1725T>G p.Asn575Lys Missense 11/21 - 1
3-178937044-T-A c.1725T>A p.Asn575Lys Missense 11/21 - 1
3-178937045-T-G c.1726T>G p.Ser576Ala Missense 11/21 - 1
3-178937054-G-A c.1735G>A p.Glu579Lys Missense 11/21 - 1
3-178937375-AA-TG c.1763_1764delinsTG p.Lys588Met Missense 12/21 - 1
3-178937381-G-C c.1769G>C p.Trp590Ser Missense 12/21 - 1
3-178937384-C-CC c.1772dup p.Pro592Serfs*5 Frameshift 12/21 - 1
3-178937393-A-G c.1781A>G p.Lys594Arg Missense 12/21 - 1
3-178937398-G-C c.1786G>C p.Glu596Gln Missense 12/21 - 2
3-178937401-CA-GC c.1789_1790delinsGC p.Gln597Ala Missense 12/21 - 1
3-178937405-C-T c.1793C>T p.Ala598Val Missense 12/21 - 1
3-178937410-G-A c.1798G>A p.Glu600Lys Missense 12/21 - 1
3-178937410-GAA-TGG c.1798_1800delinsTGG p.Glu600Trp Missense 12/21 - 3
3-178937411-A-T c.1799A>T p.Glu600Val Missense 12/21 - 5
3-178937412-A-G c.1800A>G p.Glu600Glu Synonymous 12/21 - 1
3-178937413-CTT-GAG c.1801_1803delinsGAG p.Leu601Glu Missense 12/21 - 1
3-178937420-A-G c.1808A>G p.Asp603Gly Missense 12/21 - 1
3-178937422-T-C c.1810T>C p.Cys604Arg Missense 12/21 - 5
3-178937429-A-T c.1817A>T p.Tyr606Phe Missense 12/21 - 1
3-178937435-A-C c.1823A>C p.Asp608Ala Missense 12/21 - 3
3-178937446-C-T c.1834C>T p.Arg612* Nonsense 12/21 - 1
3-178937452-T-A c.1840T>A p.Phe614Ile Missense 12/21 - 1
3-178937456-C-T c.1844C>T p.Ala615Val Missense 12/21 - 1
3-178937471-A-T c.1859A>T p.Glu620Val Missense 12/21 - 1
3-178937474-AA-TG c.1862_1863delinsTG p.Lys621Met Missense 12/21 - 1
3-178937482-ACA-GAC c.1870_1872delinsGAC p.Thr624Asp Missense 12/21 - 1
3-178937482-A-G c.1870A>G p.Thr624Ala Missense 12/21 - 1
3-178937497-T-G c.1885T>G p.Ser629Ala Missense 12/21 - 1
3-178937507-T-G c.1895T>G p.Leu632* Nonsense 12/21 - 1
3-178937516-T-G c.1904T>G p.Leu635Arg Missense 12/21 - 1
3-178937522-A-C c.1910A>C p.Gln637Pro Missense 12/21 - 1
3-178937738-T-C c.1913T>C p.Val638Ala Missense 13/21 - 1
3-178937741-T-C c.1916T>C p.Leu639Pro Missense 13/21 - 1
3-178937743-A-G c.1918A>G p.Lys640Glu Missense 13/21 - 1
3-178937749-G-A c.1924G>A p.Glu642Lys Missense 13/21 - 1
3-178937753-A-G c.1928A>G p.Gln643Arg Missense 13/21 - 1
3-178937755-T-C c.1930T>C p.Tyr644His Missense 13/21 - 4
3-178937764-AAC-CAA c.1939_1941delinsCAA p.Asn647Gln Missense 13/21 - 1
3-178937773-G-A c.1948G>A p.Val650Met Missense 13/21 - 1
3-178937791-A-G c.1966A>G p.Lys656Glu Missense 13/21 - 1
3-178937793-A-C c.1968A>C p.Lys656Asn Missense 13/21 - 2
3-178937793-A-T c.1968A>T p.Lys656Asn Missense 13/21 - 2
3-178937806-C-A c.1981C>A p.Gln661Lys Missense 13/21 - 2
3-178937818-C-G c.1993C>G p.His665Asp Missense 13/21 - 1
3-178937821-T-C c.1996T>C p.Phe666Leu Missense 13/21 - 1
3-178937823-T-A c.1998T>A p.Phe666Leu Missense 13/21 - 1
3-178937823-T-G c.1998T>G p.Phe666Leu Missense 13/21 - 1
3-178937824-T-C c.1999T>C p.Phe667Leu Missense 13/21 - 2
3-178937826-C-G c.2001C>G p.Phe667Leu Missense 13/21 - 2
3-178937826-C-A c.2001C>A p.Phe667Leu Missense 13/21 - 2
3-178938778-G-C c.2020G>C p.Glu674Gln Missense 14/21 - 2
3-178938783-G-A c.2025G>A p.Met675Ile Missense 14/21 - 1
3-178938783-G-C c.2025G>C p.Met675Ile Missense 14/21 - 1
3-178938783-G-T c.2025G>T p.Met675Ile Missense 14/21 - 1
3-178938790-A-G c.2032A>G p.Lys678Glu Missense 14/21 - 2
3-178938791-AA-TG c.2033_2034delinsTG p.Lys678Met Missense 14/21 - 1
3-178938796-G-C c.2038G>C p.Val680Leu Missense 14/21 - 1
3-178938800-G-T c.2042G>T p.Ser681Ile Missense 14/21 - 2
3-178938811-G-A c.2053G>A p.Gly685Ser Missense 14/21 - 1
3-178938817-C-T c.2059C>T p.Leu687Phe Missense 14/21 - 1
3-178938823-G-A c.2065G>A p.Glu689Lys Missense 14/21 - 1
3-178938826-T-G c.2068T>G p.Ser690Ala Missense 14/21 - 1
3-178938836-G-A c.2078G>A p.Arg693His Missense 14/21 - 1
3-178938841-T-C c.2083T>C p.Cys695Arg Missense 14/21 - 1
3-178938847-A-T c.2089A>T p.Met697Leu Missense 14/21 - 1
3-178938856-A-G c.2098A>G p.Lys700Glu Missense 14/21 - 1
3-178938860-A-C c.2102A>C p.His701Pro Missense 14/21 - 14
3-178938863-TG-AT c.2105_2106delinsAT p.Leu702His Missense 14/21 - 16
3-178938877-G-A c.2119G>A p.Glu707Lys Missense 14/21 - 7
3-178938887-A-G c.2129A>G p.Glu710Gly Missense 14/21 - 1
3-178938893-T-C c.2135T>C p.Leu712Pro Missense 14/21 - 1
3-178938913-C-G c.2155C>G p.Leu719Val Missense 14/21 - 1
3-178938916-A-G c.2158A>G p.Lys720Glu Missense 14/21 - 1
3-178938922-G-A c.2164G>A p.Glu722Lys Missense 14/21 - 1
3-178938923-A-C c.2165A>C p.Glu722Ala Missense 14/21 - 1
3-178938924-G-C c.2166G>C p.Glu722Asp Missense 14/21 - 1
3-178938924-G-T c.2166G>T p.Glu722Asp Missense 14/21 - 1
3-178938928-A-G c.2170A>G p.Lys724Glu Missense 14/21 - 1
3-178938930-G-T c.2172G>T p.Lys724Asn Missense 14/21 - 1
3-178938930-G-C c.2172G>C p.Lys724Asn Missense 14/21 - 1
3-178938931-G-A c.2173G>A p.Asp725Asn Missense 14/21 - 1
3-178938932-A-G c.2174A>G p.Asp725Gly Missense 14/21 - 1
3-178938934-G-A c.2176G>A p.Glu726Lys Missense 14/21 - 29
3-178938935-A-G c.2177A>G p.Glu726Gly Missense 14/21 - 1
3-178938935-A-C c.2177A>C p.Glu726Ala Missense 14/21 - 1
3-178941323-A-G c.2188-546A>G - IntronicSNV - 14/20 1
3-178941869-GTA-ATG c.2188_2190delinsATG p.Val730Met Missense 15/21 - 2
3-178941879-A-G c.2198A>G p.Lys733Arg Missense 15/21 - 2
3-178941890-G-C c.2209G>C p.Glu737Gln Missense 15/21 - 1
3-178941894-A-G c.2213A>G p.Gln738Arg Missense 15/21 - 1
3-178941908-G-A c.2227G>A p.Asp743Asn Missense 15/21 - 1
3-178941911-TT-GC c.2230_2231delinsGC p.Phe744Ala Missense 15/21 - 1
3-178941916-TGGATGCTCTACAGGG-T c.2235_2249del p.Met745_Gly750delinsIle MultiAAMissense 15/21 - 3
3-178941917-GGATGCTCTACAGGGC-G c.2236_2250del p.Asp746_Gly750del InFrameDeletion 15/21 - 2
3-178941918-GATGCTCTACAGGGCT-G c.2237_2251del p.Asp746_Phe751delinsVal MultiAAMissense 15/21 - 1
3-178941921-GCTCTACAGGGCTTTC-G c.2240_2254del p.Ala747_Leu752delinsVal MultiAAMissense 15/21 - 1
3-178941924-CTACAGGGCTTTCTGTCTC-C c.2243_2260del p.Leu748_Ser753del InFrameDeletion 15/21 - 2
3-178941930-G-A c.2249G>A p.Gly750Asp Missense 15/21 - 1
3-178941944-CT-TC c.2263_2264delinsTC p.Leu755Ser Missense 15/21 - 1
3-178941945-T-C c.2264T>C p.Leu755Pro Missense 15/21 - 1
3-178941960-A-T c.2279A>T p.Gln760Leu Missense 15/21 - 1
3-178941972-T-C c.2291T>C p.Leu764Pro Missense 15/21 - 1
3-178941994-C-T c.2294+19C>T - IntronicSNV - 15/20 1
3-178942492-G-A c.2299G>A p.Glu767Lys Missense 16/21 - 1
3-178942496-A-C c.2303A>C p.Glu768Ala Missense 16/21 - 1
3-178942501-CG-GC c.2308_2309delinsGC p.Arg770Ala Missense 16/21 - 1
3-178942502-G-A c.2309G>A p.Arg770Gln Missense 16/21 - 2
3-178942504-AT-TA c.2311_2312delinsTA p.Ile771Tyr Missense 16/21 - 1
3-178942504-AT-GC c.2311_2312delinsGC p.Ile771Ala Missense 16/21 - 1
3-178942507-AT-GC c.2314_2315delinsGC p.Met772Ala Missense 16/21 - 1
3-178942509-G-T c.2316G>T p.Met772Ile Missense 16/21 - 1
3-178942509-G-A c.2316G>A p.Met772Ile Missense 16/21 - 1
3-178942509-G-C c.2316G>C p.Met772Ile Missense 16/21 - 1
3-178942510-T-G c.2317T>G p.Ser773Ala Missense 16/21 - 1
3-178942510-TC-GA c.2317_2318inv p.Ser773Asp Missense 16/21 - 1
3-178942513-T-G c.2320T>G p.Ser774Ala Missense 16/21 - 1
3-178942516-G-T c.2323G>T p.Ala775Ser Missense 16/21 - 1
3-178942519-A-G c.2326A>G p.Lys776Glu Missense 16/21 - 2
3-178942519-AA-GC c.2326_2327delinsGC p.Lys776Ala Missense 16/21 - 1
3-178942520-AA-TG c.2327_2328delinsTG p.Lys776Met Missense 16/21 - 1
3-178942522-AG-GC c.2329_2330delinsGC p.Arg777Ala Missense 16/21 - 1
3-178942522-AG-GA c.2329_2330delinsGA p.Arg777Glu Missense 16/21 - 1
3-178942532-G-A c.2339G>A p.Trp780* Nonsense 16/21 - 2
3-178942538-A-T c.2345A>T p.Asn782Ile Missense 16/21 - 1
3-178942548-C-A c.2355C>A p.Asn785Lys Missense 16/21 - 1
3-178942548-C-G c.2355C>G p.Asn785Lys Missense 16/21 - 1
3-178942562-C-T c.2369C>T p.Ser790Leu Missense 16/21 - 1
3-178942562-CA-TT c.2369_2370delinsTT p.Ser790Phe Missense 16/21 - 1
3-178942573-TT-CG c.2380_2381delinsCG p.Phe794Arg Missense 16/21 - 1
3-178942586-A-G c.2393A>G p.Glu798Gly Missense 16/21 - 1
3-178942591-A-C c.2398A>C p.Ile800Leu Missense 16/21 - 11
3-178942593-C-G c.2400C>G p.Ile800Met Missense 16/21 - 3
3-178942598-A-C c.2405A>C p.Lys802Thr Missense 16/21 - 2
3-178942600-AA-GC c.2407_2408delinsGC p.Asn803Ala Missense 16/21 - 1
3-178942606-G-A c.2413G>A p.Asp805Asn Missense 16/21 - 1
3-178943068-A-G c.2416+459A>G - IntronicSNV - 16/20 1
3-178943762-A-C c.2429A>C p.Asp810Ala Missense 17/21 - 1
3-178943765-T-C c.2432T>C p.Met811Thr Missense 17/21 - 1
3-178943773-CT-TG c.2440_2441delinsTG p.Leu814Cys Missense 17/21 - 3
3-178943779-A-G c.2446A>G p.Ile816Val Missense 17/21 - 1
3-178943780-T-C c.2447T>C p.Ile816Thr Missense 17/21 - 1
3-178943791-AT-GC c.2458_2459delinsGC p.Met820Ala Missense 17/21 - 1
3-178943797-A-T c.2464A>T p.Asn822Tyr Missense 17/21 - 1
3-178943798-A-T c.2465A>T p.Asn822Ile Missense 17/21 - 1
3-178943799-T-G c.2466T>G p.Asn822Lys Missense 17/21 - 3
3-178943799-T-A c.2466T>A p.Asn822Lys Missense 17/21 - 3
3-178943805-G-T c.2472G>T p.Trp824Cys Missense 17/21 - 1
3-178943805-G-C c.2472G>C p.Trp824Cys Missense 17/21 - 1
3-178943821-G-T c.2488G>T p.Asp830Tyr Missense 17/21 - 1
3-178947063-G-A c.2499G>A p.Met833Ile Missense 18/21 - 1
3-178947064-TT-AG c.2500_2501delinsAG p.Leu834Arg Missense 18/21 - 1
3-178947068-C-T c.2504C>T p.Pro835Leu Missense 18/21 - 1
3-178947070-TA-GC c.2506_2507delinsGC p.Tyr836Ala Missense 18/21 - 1
3-178947070-TAT-ATG c.2506_2508delinsATG p.Tyr836Met Missense 18/21 - 1
3-178947071-A-T c.2507A>T p.Tyr836Phe Missense 18/21 - 1
3-178947074-G-T c.2510G>T p.Gly837Val Missense 18/21 - 1
3-178947080-T-G c.2516T>G p.Leu839Arg Missense 18/21 - 1
3-178947093-C-G c.2529C>G p.Asp843Glu Missense 18/21 - 1
3-178947093-C-A c.2529C>A p.Asp843Glu Missense 18/21 - 1
3-178947094-TG-AC c.2530_2531delinsAC p.Cys844Thr Missense 18/21 - 2
3-178947096-T-C c.2532T>C p.Cys844Cys Synonymous 18/21 - 1
3-178947101-G-T c.2537G>T p.Gly846Val Missense 18/21 - 1
3-178947106-AT-GG c.2542_2543delinsGG p.Ile848Gly Missense 18/21 - 1
3-178947106-AT-GC c.2542_2543delinsGC p.Ile848Ala Missense 18/21 - 1
3-178947106-A-C c.2542A>C p.Ile848Leu Missense 18/21 - 1
3-178947106-A-G c.2542A>G p.Ile848Val Missense 18/21 - 2
3-178947107-T-G c.2543T>G p.Ile848Ser Missense 18/21 - 1
3-178947110-A-C c.2546A>C p.Glu849Ala Missense 18/21 - 1
3-178947118-CG-GC c.2554_2555delinsGC p.Arg852Ala Missense 18/21 - 1
3-178947121-AA-GC c.2557_2558delinsGC p.Asn853Ala Missense 18/21 - 1
3-178947124-TC-CT c.2560_2561delinsCT p.Ser854Leu Missense 18/21 - 1
3-178947127-CAC-GAG c.2563_2565delinsGAG p.His855Glu Missense 18/21 - 2
3-178947127-CA-GC c.2563_2564delinsGC p.His855Ala Missense 18/21 - 1
3-178947137-T-G c.2573T>G p.Met858Arg Missense 18/21 - 1
3-178947139-CAA-GAC c.2575_2577delinsGAC p.Gln859Asp Missense 18/21 - 3
3-178947139-C-G c.2575C>G p.Gln859Glu Missense 18/21 - 1
3-178947139-CA-GC c.2575_2576delinsGC p.Gln859Ala Missense 18/21 - 1
3-178947146-A-G c.2582A>G p.Gln861Arg Missense 18/21 - 1
3-178947157-G-C c.2593G>C p.Gly865Arg Missense 18/21 - 1
3-178947157-G-A c.2593G>A p.Gly865Ser Missense 18/21 - 1
3-178947162-G-C c.2598G>C p.Leu866Phe Missense 18/21 - 1
3-178947162-G-T c.2598G>T p.Leu866Phe Missense 18/21 - 1
3-178947163-AA-GC c.2599_2600delinsGC p.Lys867Ala Missense 18/21 - 1
3-178947174-G-A c.2610G>A p.Leu870Leu Synonymous 18/21 - 1
3-178947180-C-A c.2616C>A p.Phe872Leu Missense 18/21 - 1
3-178947178-T-C c.2614T>C p.Phe872Leu Missense 18/21 - 1
3-178947180-C-G c.2616C>G p.Phe872Leu Missense 18/21 - 1
3-178947187-C-T c.2623C>T p.His875Tyr Missense 18/21 - 17
3-178947187-CA-AC c.2623_2624delinsAC p.His875Thr Missense 18/21 - 2
3-178947189-C-T c.2625C>T p.His875His Synonymous 18/21 - 2
3-178947196-C-T c.2632C>T p.His878Tyr Missense 18/21 - 2
3-178947199-C-T c.2635C>T p.Gln879* Nonsense 18/21 - 1
3-178947199-C-A c.2635C>A p.Gln879Lys Missense 18/21 - 1
3-178947209-A-G c.2645A>G p.Lys882Arg Missense 18/21 - 1
3-178947230-T-C c.2666T>C p.Ile889Thr Missense 18/21 - 1
3-178947325-A-C c.2666+95A>C - IntronicSNV - 18/20 5
3-178947793-T-C c.2668T>C p.Tyr890His Missense 19/21 - 1
3-178947794-A-G c.2669A>G p.Tyr890Cys Missense 19/21 - 1
3-178947796-G-C c.2671G>C p.Asp891His Missense 19/21 - 2
3-178947797-A-T c.2672A>T p.Asp891Val Missense 19/21 - 2
3-178947809-A-G c.2684A>G p.Asp895Gly Missense 19/21 - 1
3-178947811-C-G c.2686C>G p.Leu896Val Missense 19/21 - 1
3-178947818-C-T c.2693C>T p.Thr898Ile Missense 19/21 - 1
3-178947823-T-G c.2698T>G p.Ser900Ala Missense 19/21 - 1
3-178947826-T-C c.2701T>C p.Cys901Arg Missense 19/21 - 1
3-178947827-G-T c.2702G>T p.Cys901Phe Missense 19/21 - 15
3-178947827-G-A c.2702G>A p.Cys901Tyr Missense 19/21 - 1
3-178947832-G-A c.2707G>A p.Gly903Arg Missense 19/21 - 1
3-178947832-G-C c.2707G>C p.Gly903Arg Missense 19/21 - 1
3-178947836-A-G c.2711A>G p.Tyr904Cys Missense 19/21 - 1
3-178947839-G-C c.2714G>C p.Cys905Ser Missense 19/21 - 1
3-178947838-T-A c.2713T>A p.Cys905Ser Missense 19/21 - 1
3-178947844-G-A c.2719G>A p.Ala907Thr Missense 19/21 - 1
3-178947847-AC-TG c.2722_2723delinsTG p.Thr908Cys Missense 19/21 - 1
3-178947850-T-C c.2725T>C p.Phe909Leu Missense 19/21 - 7
3-178947852-C-A c.2727C>A p.Phe909Leu Missense 19/21 - 7
3-178947852-C-G c.2727C>G p.Phe909Leu Missense 19/21 - 7
3-178947851-T-C c.2726T>C p.Phe909Ser Missense 19/21 - 1
3-178947851-T-G c.2726T>G p.Phe909Cys Missense 19/21 - 1
3-178947859-G-C c.2734G>C p.Gly912Arg Missense 19/21 - 1
3-178947859-G-A c.2734G>A p.Gly912Arg Missense 19/21 - 1
3-178947860-G-A c.2735G>A p.Gly912Glu Missense 19/21 - 1
3-178947860-GA-AC c.2735_2736delinsAC p.Gly912Asp Missense 19/21 - 1
3-178947865-G-A c.2740G>A p.Gly914Arg Missense 19/21 - 14
3-178947868-G-A c.2743G>A p.Asp915Asn Missense 19/21 - 1
3-178947871-C-T c.2746C>T p.Arg916Cys Missense 19/21 - 1
3-178947872-G-C c.2747G>C p.Arg916Pro Missense 19/21 - 3
3-178947874-CA-GC c.2749_2750delinsGC p.His917Ala Missense 19/21 - 1
3-178947874-C-A c.2749C>A p.His917Asn Missense 19/21 - 1
3-178947891-G-A c.2766G>A p.Met922Ile Missense 19/21 - 1
3-178947901-G-A c.2776G>A p.Asp926Asn Missense 19/21 - 1
3-178948013-CT-TC c.2785_2786delinsTC p.Leu929Ser Missense 20/21 - 1
3-178948014-T-G c.2786T>G p.Leu929Arg Missense 20/21 - 2
3-178948017-T-C c.2789T>C p.Phe930Ser Missense 20/21 - 1
3-178948026-A-C c.2798A>C p.Asp933Ala Missense 20/21 - 29
3-178948034-CA-GC c.2806_2807delinsGC p.His936Ala Missense 20/21 - 1
3-178948041-T-A c.2813T>A p.Leu938* Nonsense 20/21 - 1
3-178948044-A-G c.2816A>G p.Asp939Gly Missense 20/21 - 3
3-178948052-A-C c.2824A>C p.Lys942Gln Missense 20/21 - 1
3-178948053-A-T c.2825A>T p.Lys942Met Missense 20/21 - 1
3-178948060-A-T c.2832A>T p.Lys944Asn Missense 20/21 - 1
3-178948073-CGA-GAC c.2845_2847delinsGAC p.Arg949Asp Missense 20/21 - 1
3-178948083-T-G c.2855T>G p.Val952Gly Missense 20/21 - 1
3-178948083-T-C c.2855T>C p.Val952Ala Missense 20/21 - 1
3-178948091-G-A c.2863G>A p.Val955Ile Missense 20/21 - 1
3-178948092-T-G c.2864T>G p.Val955Gly Missense 20/21 - 1
3-178948124-A-G c.2896A>G p.Lys966Glu Missense 20/21 - 1
3-178948131-C-G c.2903C>G p.Ala968Gly Missense 20/21 - 1
3-178948136-G-A c.2908G>A p.Glu970Lys Missense 20/21 - 5
3-178948139-T-C c.2911T>C p.Cys971Arg Missense 20/21 - 5
3-178948152-G-A c.2924G>A p.Arg975Lys Missense 20/21 - 1
3-178948153-A-C c.2925A>C p.Arg975Ser Missense 20/21 - 5
3-178948153-A-T c.2925A>T p.Arg975Ser Missense 20/21 - 5
3-178948155-A-C c.2927A>C p.Glu976Ala Missense 20/21 - 1
3-178950297-C-T c.2937-1585C>T - IntronicSNV - 20/20 13
3-178951889-G-A c.2944G>A p.Glu982Lys Missense 21/21 - 1
3-178951889-G-C c.2944G>C p.Glu982Gln Missense 21/21 - 1
3-178951891-G-T c.2946G>T p.Glu982Asp Missense 21/21 - 1
3-178951891-G-C c.2946G>C p.Glu982Asp Missense 21/21 - 1
3-178951893-T-A c.2948T>A p.Met983Lys Missense 21/21 - 1
3-178951894-G-A c.2949G>A p.Met983Ile Missense 21/21 - 1
3-178951896-G-A c.2951G>A p.Cys984Tyr Missense 21/21 - 1
3-178951898-TA-CT c.2953_2954delinsCT p.Tyr985Leu Missense 21/21 - 2
3-178951899-A-C c.2954A>C p.Tyr985Ser Missense 21/21 - 1
3-178951899-A-T c.2954A>T p.Tyr985Phe Missense 21/21 - 2
3-178951908-A-T c.2963A>T p.Tyr988Phe Missense 21/21 - 2
3-178951919-C-T c.2974C>T p.Arg992* Nonsense 21/21 - 2
3-178951920-G-A c.2975G>A p.Arg992Gln Missense 21/21 - 2
3-178951925-C-T c.2980C>T p.His994Tyr Missense 21/21 - 1
3-178951932-A-G c.2987A>G p.Asn996Ser Missense 21/21 - 1
3-178951938-T-C c.2993T>C p.Phe998Ser Missense 21/21 - 2
3-178951939-C-T c.2994C>T p.Phe998Phe Synonymous 21/21 - 1
3-178951943-A-G c.2998A>G p.Asn1000Asp Missense 21/21 - 2
3-178951946-C-G c.3001C>G p.Leu1001Val Missense 21/21 - 1
3-178951946-C-A c.3001C>A p.Leu1001Ile Missense 21/21 - 1
3-178951952-T-C c.3007T>C p.Ser1003Pro Missense 21/21 - 2
3-178951955-ATG-TTT c.3010_3012delinsTTT p.Met1004Phe Missense 21/21 - 1
3-178951955-AT-GC c.3010_3011delinsGC p.Met1004Ala Missense 21/21 - 1
3-178951955-A-G c.3010A>G p.Met1004Val Missense 21/21 - 3
3-178951957-G-T c.3012G>T p.Met1004Ile Missense 21/21 - 5
3-178951961-C-T c.3016C>T p.Leu1006Phe Missense 21/21 - 2
3-178951962-T-C c.3017T>C p.Leu1006Pro Missense 21/21 - 2
3-178951964-G-C c.3019G>C p.Gly1007Arg Missense 21/21 - 7
3-178951964-G-A c.3019G>A p.Gly1007Ser Missense 21/21 - 1
3-178951967-T-A c.3022T>A p.Ser1008Thr Missense 21/21 - 1
3-178951967-T-G c.3022T>G p.Ser1008Ala Missense 21/21 - 1
3-178951967-T-C c.3022T>C p.Ser1008Pro Missense 21/21 - 2
3-178951972-A-T c.3027A>T p.Gly1009Gly Synonymous 21/21 - 1
3-178951972-A-C c.3027A>C p.Gly1009Gly Synonymous 21/21 - 1
3-178951972-A-G c.3027A>G p.Gly1009Gly Synonymous 21/21 - 1
3-178951976-C-T c.3031C>T p.Pro1011Ser Missense 21/21 - 1
3-178951977-C-T c.3032C>T p.Pro1011Leu Missense 21/21 - 1
3-178951979-G-A c.3034G>A p.Glu1012Lys Missense 21/21 - 4
3-178951979-G-C c.3034G>C p.Glu1012Gln Missense 21/21 - 1
3-178951980-A-G c.3035A>G p.Glu1012Gly Missense 21/21 - 1
3-178951986-A-G c.3041A>G p.Gln1014Arg Missense 21/21 - 2
3-178951987-A-T c.3042A>T p.Gln1014His Missense 21/21 - 1
3-178951987-A-C c.3042A>C p.Gln1014His Missense 21/21 - 1
3-178951989-C-T c.3044C>T p.Ser1015Phe Missense 21/21 - 3
3-178951994-G-C c.3049G>C p.Asp1017His Missense 21/21 - 3
3-178951995-A-G c.3050A>G p.Asp1017Gly Missense 21/21 - 2
3-178951995-A-T c.3050A>T p.Asp1017Val Missense 21/21 - 2
3-178951997-G-A c.3052G>A p.Asp1018Asn Missense 21/21 - 2
3-178952003-G-A c.3058G>A p.Ala1020Thr Missense 21/21 - 3
3-178952004-C-T c.3059C>T p.Ala1020Val Missense 21/21 - 2
3-178952006-T-A c.3061T>A p.Tyr1021Asn Missense 21/21 - 2
3-178952006-T-C c.3061T>C p.Tyr1021His Missense 21/21 - 5
3-178952007-A-G c.3062A>G p.Tyr1021Cys Missense 21/21 - 30
3-178952007-A-T c.3062A>T p.Tyr1021Phe Missense 21/21 - 5
3-178952009-A-G c.3064A>G p.Ile1022Val Missense 21/21 - 1
3-178952012-C-T c.3067C>T p.Arg1023* Nonsense 21/21 - 2
3-178952013-G-A c.3068G>A p.Arg1023Gln Missense 21/21 - 12
3-178952018-A-G c.3073A>G p.Thr1025Ala Missense 21/21 - 31
3-178952018-ACC-TAA c.3073_3075delinsTAA p.Thr1025* Nonsense 21/21 - 1
3-178952018-A-C c.3073A>C p.Thr1025Pro Missense 21/21 - 1
3-178952018-A-T c.3073A>T p.Thr1025Ser Missense 21/21 - 9
3-178952019-C-T c.3074C>T p.Thr1025Ile Missense 21/21 - 2
3-178952019-C-A c.3074C>A p.Thr1025Asn Missense 21/21 - 3
3-178952020-C-A c.3075C>A p.Thr1025Thr Synonymous 21/21 - 7
3-178952020-C-G c.3075C>G p.Thr1025Thr Synonymous 21/21 - 7
3-178952020-C-T c.3075C>T p.Thr1025Thr Synonymous 21/21 - 15
3-178952024-GC-CA c.3079_3080delinsCA p.Ala1027His Missense 21/21 - 1
3-178952024-G-A c.3079G>A p.Ala1027Thr Missense 21/21 - 2
3-178952025-C-A c.3080C>A p.Ala1027Asp Missense 21/21 - 1
3-178952029-A-G c.3084A>G p.Leu1028Leu Synonymous 21/21 - 1
3-178952027-T-C c.3082T>C p.Leu1028Leu Synonymous 21/21 - 1
3-178952028-T-C c.3083T>C p.Leu1028Ser Missense 21/21 - 1
3-178952030-G-A c.3085G>A p.Asp1029Asn Missense 21/21 - 2
3-178952030-G-C c.3085G>C p.Asp1029His Missense 21/21 - 4
3-178952030-G-T c.3085G>T p.Asp1029Tyr Missense 21/21 - 2
3-178952034-A-G c.3089A>G p.Lys1030Arg Missense 21/21 - 1
3-178952036-A-G c.3091A>G p.Thr1031Ala Missense 21/21 - 1
3-178952037-C-T c.3092C>T p.Thr1031Ile Missense 21/21 - 1
3-178952042-C-A c.3097C>A p.Gln1033Lys Missense 21/21 - 1
3-178952043-A-T c.3098A>T p.Gln1033Leu Missense 21/21 - 1
3-178952045-G-C c.3100G>C p.Glu1034Gln Missense 21/21 - 1
3-178952046-A-G c.3101A>G p.Glu1034Gly Missense 21/21 - 1
3-178952048-G-A c.3103G>A p.Ala1035Thr Missense 21/21 - 3
3-178952049-C-T c.3104C>T p.Ala1035Val Missense 21/21 - 7
3-178952054-G-C c.3109G>C p.Glu1037Gln Missense 21/21 - 1
3-178952054-G-A c.3109G>A p.Glu1037Lys Missense 21/21 - 2
3-178952055-A-G c.3110A>G p.Glu1037Gly Missense 21/21 - 1
3-178952062-C-T c.3117C>T p.Phe1039Phe Synonymous 21/21 - 1
3-178952063-A-C c.3118A>C p.Met1040Leu Missense 21/21 - 1
3-178952063-A-T c.3118A>T p.Met1040Leu Missense 21/21 - 1
3-178952065-G-A c.3120G>A p.Met1040Ile Missense 21/21 - 5
3-178952066-A-G c.3121A>G p.Lys1041Glu Missense 21/21 - 1
3-178952072-A-T c.3127A>T p.Met1043Leu Missense 21/21 - 6
3-178952072-A-G c.3127A>G p.Met1043Val Missense 21/21 - 47
3-178952072-A-C c.3127A>C p.Met1043Leu Missense 21/21 - 6
3-178952073-T-C c.3128T>C p.Met1043Thr Missense 21/21 - 4
3-178952074-G-A c.3129G>A p.Met1043Ile Missense 21/21 - 75
3-178952074-G-C c.3129G>C p.Met1043Ile Missense 21/21 - 72
3-178952074-G-T c.3129G>T p.Met1043Ile Missense 21/21 - 77
3-178952075-A-C c.3130A>C p.Asn1044His Missense 21/21 - 1
3-178952075-A-T c.3130A>T p.Asn1044Tyr Missense 21/21 - 2
3-178952075-AA-CT c.3130_3131delinsCT p.Asn1044Leu Missense 21/21 - 1
3-178952075-AAT-ATCTAT c.3130_3131insTCT p.Asn1044delinsIleTyr MultiAAMissense 21/21 - 1
3-178952076-A-G c.3131A>G p.Asn1044Ser Missense 21/21 - 4
3-178952077-T-A c.3132T>A p.Asn1044Lys Missense 21/21 - 19
3-178952078-GAT-AAG c.3133_3135delinsAAG p.Asp1045Lys Missense 21/21 - 1
3-178952078-G-T c.3133G>T p.Asp1045Tyr Missense 21/21 - 1
3-178952078-G-A c.3133G>A p.Asp1045Asn Missense 21/21 - 5
3-178952081-G-A c.3136G>A p.Ala1046Thr Missense 21/21 - 7
3-178952082-C-T c.3137C>T p.Ala1046Val Missense 21/21 - 6
3-178952083-A-T c.3138A>T p.Ala1046Ala Synonymous 21/21 - 1
3-178952083-A-C c.3138A>C p.Ala1046Ala Synonymous 21/21 - 1
3-178952083-A-G c.3138A>G p.Ala1046Ala Synonymous 21/21 - 1
3-178952084-CA-TG c.3139_3140inv p.His1047Cys Missense 21/21 - 1
3-178952084-C-T c.3139C>T p.His1047Tyr Missense 21/21 - 106
3-178952084-C-A c.3139C>A p.His1047Asn Missense 21/21 - 1
3-178952084-CAT-TAA c.3139_3141delinsTAA p.His1047* Nonsense 21/21 - 14
3-178952084-CA-GC c.3139_3140delinsGC p.His1047Ala Missense 21/21 - 5
3-178952084-CA-AC c.3139_3140delinsAC p.His1047Thr Missense 21/21 - 2
3-178952084-CAT-GAG c.3139_3141delinsGAG p.His1047Glu Missense 21/21 - 1
3-178952084-CAT-AAG c.3139_3141delinsAAG p.His1047Lys Missense 21/21 - 4
3-178952085-A-T c.3140A>T p.His1047Leu Missense 21/21 - 323
3-178952085-A-G c.3140A>G p.His1047Arg Missense 21/21 - 1755
3-178952085-A-C c.3140A>C p.His1047Pro Missense 21/21 - 1
3-178952086-T-G c.3141T>G p.His1047Gln Missense 21/21 - 6
3-178952086-T-A c.3141T>A p.His1047Gln Missense 21/21 - 6
3-178952086-T-C c.3141T>C p.His1047His Synonymous 21/21 - 5
3-178952087-CA-AC c.3142_3143delinsAC p.His1048Thr Missense 21/21 - 1
3-178952087-C-T c.3142C>T p.His1048Tyr Missense 21/21 - 2
3-178952087-C-G c.3142C>G p.His1048Asp Missense 21/21 - 1
3-178952087-CAT-TAA c.3142_3144delinsTAA p.His1048* Nonsense 21/21 - 1
3-178952088-A-G c.3143A>G p.His1048Arg Missense 21/21 - 7
3-178952088-A-T c.3143A>T p.His1048Leu Missense 21/21 - 1
3-178952089-T-C c.3144T>C p.His1048His Synonymous 21/21 - 1
3-178952090-GG-AA c.3145_3146delinsAA p.Gly1049Asn Missense 21/21 - 2
3-178952090-G-C c.3145G>C p.Gly1049Arg Missense 21/21 - 78
3-178952090-G-A c.3145G>A p.Gly1049Ser Missense 21/21 - 18
3-178952090-G-T c.3145G>T p.Gly1049Cys Missense 21/21 - 1
3-178952090-GGT-TGA c.3145_3147delinsTGA p.Gly1049* Nonsense 21/21 - 3
3-178952091-G-C c.3146G>C p.Gly1049Ala Missense 21/21 - 1
3-178952091-G-A c.3146G>A p.Gly1049Asp Missense 21/21 - 5
3-178952092-T-C c.3147T>C p.Gly1049Gly Synonymous 21/21 - 1
3-178952093-G-A c.3148G>A p.Gly1050Ser Missense 21/21 - 5
3-178952094-G-A c.3149G>A p.Gly1050Asp Missense 21/21 - 2
3-178952097-G-A c.3152G>A p.Trp1051* Nonsense 21/21 - 2
3-178952098-G-A c.3153G>A p.Trp1051* Nonsense 21/21 - 2
3-178952099-A-G c.3154A>G p.Thr1052Ala Missense 21/21 - 2
3-178952100-C-A c.3155C>A p.Thr1052Lys Missense 21/21 - 3
3-178952100-C-T c.3155C>T p.Thr1052Ile Missense 21/21 - 5
3-178952101-A-C c.3156A>C p.Thr1052Thr Synonymous 21/21 - 1
3-178952101-A-G c.3156A>G p.Thr1052Thr Synonymous 21/21 - 1
3-178952101-A-T c.3156A>T p.Thr1052Thr Synonymous 21/21 - 1
3-178952103-C-A c.3158C>A p.Thr1053Lys Missense 21/21 - 1
3-178952103-C-T c.3158C>T p.Thr1053Ile Missense 21/21 - 1
3-178952106-AAAATG-A c.3161_3165del p.Lys1054Argfs*8 Frameshift 21/21 - 1
3-178952108-A-C c.3163A>C p.Met1055Leu Missense 21/21 - 1
3-178952111-G-A c.3166G>A p.Asp1056Asn Missense 21/21 - 2
3-178952114-T-A c.3169T>A p.Trp1057Arg Missense 21/21 - 1
3-178952114-T-C c.3169T>C p.Trp1057Arg Missense 21/21 - 1
3-178952115-G-A c.3170G>A p.Trp1057* Nonsense 21/21 - 3
3-178952117-A-T c.3172A>T p.Ile1058Phe Missense 21/21 - 1
3-178952122-C-G c.3177C>G p.Phe1059Leu Missense 21/21 - 1
3-178952122-C-A c.3177C>A p.Phe1059Leu Missense 21/21 - 1
3-178952120-T-C c.3175T>C p.Phe1059Leu Missense 21/21 - 1
3-178952123-C-T c.3178C>T p.His1060Tyr Missense 21/21 - 1
3-178952130-T-C c.3185T>C p.Ile1062Thr Missense 21/21 - 1
3-178952133-A-G c.3188A>G p.Lys1063Arg Missense 21/21 - 1
3-178952136-A-G c.3191A>G p.Gln1064Arg Missense 21/21 - 1
3-178952138-C-T c.3193C>T p.His1065Tyr Missense 21/21 - 1
3-178952139-A-T c.3194A>T p.His1065Leu Missense 21/21 - 1
3-178952139-CATGCA-C c.3194_3198del p.His1065Leufs*6 Frameshift 21/21 - 1
3-178952141-G-A c.3196G>A p.Ala1066Thr Missense 21/21 - 4
3-178952142-C-T c.3197C>T p.Ala1066Val Missense 21/21 - 9
3-178952144-T-C c.3199T>C p.Leu1067Leu Synonymous 21/21 - 1
3-178952146-G-A c.3201G>A p.Leu1067Leu Synonymous 21/21 - 1
3-178952146-G-T c.3201G>T p.Leu1067Phe Missense 21/21 - 1
3-178952146-G-C c.3201G>C p.Leu1067Phe Missense 21/21 - 1
3-178952148-A-AA c.3203dup p.Asn1068Lysfs*5 Frameshift 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 - 4
3-178952507-G-T c.*355G>T - IntergenicSNV 21/21 - 2
3-178955783-T-C c.*3631T>C - IntergenicSNV 21/21 - 1