CTNNB1

CTNNB1 catenin beta 1

Annotation transcript: NM_001904.4

3307 unique variant annotations were identified in 2917 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-41241017-C-T c.-193C>T - 5_prime_UTR_variant 1/15 - 1
3-41241154-C-G c.-56C>G - 5_prime_UTR_variant 1/15 - 1
3-41241993-A-G c.-49+832A>G - intron_variant - 1/14 1
3-41242338-C-A c.-49+1177C>A - intron_variant - 1/14 7
3-41242338-C-T c.-49+1177C>T - intron_variant - 1/14 7
3-41242863-A-G c.-49+1702A>G - intron_variant - 1/14 2
3-41242863-A-T c.-49+1702A>T - intron_variant - 1/14 2
3-41243742-T-G c.-49+2581T>G - intron_variant - 1/14 8
3-41244376-T-G c.-49+3215T>G - intron_variant - 1/14 1
3-41245731-A-C c.-49+4570A>C - intron_variant - 1/14 1
3-41245731-A-G c.-49+4570A>G - intron_variant - 1/14 1
3-41245804-T-C c.-49+4643T>C - intron_variant - 1/14 1
3-41250129-G-T c.-49+8968G>T - intron_variant - 1/14 3
3-41250481-G-A c.-49+9320G>A - intron_variant - 1/14 1
3-41254646-G-T c.-48-10866G>T - IntronicSNV - 1/14 2
3-41255358-T-G c.-48-10154T>G - IntronicSNV - 1/14 2
3-41258048-A-G c.-48-7464A>G - IntronicSNV - 1/14 2
3-41258048-A-T c.-48-7464A>T - IntronicSNV - 1/14 2
3-41259511-G-A c.-48-6001G>A - IntronicSNV - 1/14 1
3-41260017-G-A c.-48-5495G>A - IntronicSNV - 1/14 3
3-41261979-A-G c.-48-3533A>G - IntronicSNV - 1/14 7
3-41262444-T-C c.-48-3068T>C - IntronicSNV - 1/14 10
3-41263238-T-C c.-48-2274T>C - IntronicSNV - 1/14 1
3-41263670-G-A c.-48-1842G>A - IntronicSNV - 1/14 1
3-41265551-G-C c.-9G>C - 5-UTRSNV 2/15 - 1
3-41265560-A-G c.1A>G p.M1? Missense 2/15 - 1
3-41265562-G-T c.3G>T p.M1? Missense 2/15 - 1
3-41265563-G-A c.4G>A p.A2T Missense 2/15 - 1
3-41265563-GCT-AAG c.4_6delinsAAG p.A2K Missense 2/15 - 1
3-41265566-A-G c.7A>G p.T3A Missense 2/15 - 2
3-41265566-A-T c.7A>T p.T3S Missense 2/15 - 1
3-41265567-C-A c.8C>A p.T3N Missense 2/15 - 1
3-41265567-C-T c.8C>T p.T3I Missense 2/15 - 1
3-41265567-C-CT c.9dup p.Q4Sfs*3 Frameshift 2/15 - 1
3-41265568-T-A c.9T>A p.T3= Synonymous 2/15 - 2
3-41265568-T-C c.9T>C p.T3= Synonymous 2/15 - 2
3-41265568-T-G c.9T>G p.T3= Synonymous 2/15 - 2
3-41265569-C-G c.10C>G p.Q4E Missense 2/15 - 1
3-41265569-C-T c.10C>T p.Q4* Nonsense 2/15 - 3
3-41265570-A-T c.11A>T p.Q4L Missense 2/15 - 1
3-41265571-A-T c.12A>T p.Q4H Missense 2/15 - 1
3-41265575-TTTGTGTCATTAAATCTTTAGTTACTGAATTGGGGCTCTGCTTCGTTGCCATTAAGCCAG-T c.13+4_13+62del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion - 2/14 1
3-41265581-C-G c.13+9C>G - IntronicSNV - 2/14 1
3-41265639-C-T c.13+67C>T - IntronicSNV - 2/14 1
3-41265670-T-C c.13+98T>C - IntronicSNV - 2/14 1
3-41265701-C-T c.13+129C>T - IntronicSNV - 2/14 1
3-41265703-G-T c.13+131G>T - IntronicSNV - 2/14 1
3-41266013-A-G c.14-4A>G - IntronicSNV - 2/14 2
3-41266017-C-G c.14C>G p.A5G Missense 3/15 - 1
3-41266017-C-T c.14C>T p.A5V Missense 3/15 - 4
3-41266017-GCTGATTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCAC-G c.14_72del p.A5Vfs*25 Unclassified 3/15 - 4
3-41266018-T-A c.15T>A p.A5= Synonymous 3/15 - 1
3-41266018-T-C c.15T>C p.A5= Synonymous 3/15 - 1
3-41266018-T-G c.15T>G p.A5= Synonymous 3/15 - 1
3-41266019-G-A c.16G>A p.D6N Missense 3/15 - 1
3-41266019-G-C c.16G>C p.D6H Missense 3/15 - 1
3-41266019-TGATTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTG-T c.17_75del p.D6Afs*24 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/15 - 7
3-41266020-A-G c.17A>G p.D6G Missense 3/15 - 2
3-41266020-A-T c.17A>T p.D6V Missense 3/15 - 1
3-41266021-T-A c.18T>A p.D6E Missense 3/15 - 1
3-41266022-T-C c.19T>C p.L7= Synonymous 3/15 - 3
3-41266022-TTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCA-T c.19_77del p.L7Afs*23 InFrameDeletion 3/15 - 5
3-41266024-G-A c.21G>A p.L7= Synonymous 3/15 - 3
3-41266024-G-C c.21G>C p.L7F Missense 3/15 - 2
3-41266024-TGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGC-T c.21_79del p.M8Tfs*22 SpliceDonorDeletion 3/15 - 1
3-41266025-A-G c.22A>G p.M8V Missense 3/15 - 2
3-41266025-GATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCA-G c.23_81del p.M8Tfs*22 InFrameDeletion 3/15 - 5
3-41266024-GATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCA-G c.23_81del p.M8Tfs*22 InFrameDeletion 3/15 - 6
3-41266026-T-C c.23T>C p.M8T Missense 3/15 - 2
3-41266027-G-A c.24G>A p.M8I Missense 3/15 - 1
3-41266028-G-A c.25G>A p.E9K Missense 3/15 - 2
3-41266028-GGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACA-G c.26_84del p.E9Vfs*21 InFrameDeletion 3/15 - 5
3-41266027-GGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACA-G c.26_84del p.E9Vfs*21 InFrameDeletion 3/15 - 4
3-41266029-A-T c.26A>T p.E9V Missense 3/15 - 1
3-41266031-TT-CA c.28_29delinsCA p.L10Q Missense 3/15 - 1
3-41266031-TT-GC c.28_29delinsGC p.L10A Missense 3/15 - 1
3-41266030-GTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTC-G c.30_88del p.D11Pfs*19 InFrameDeletion 3/15 - 7
3-41266033-G-T c.30G>T p.L10F Missense 3/15 - 1
3-41266034-G-A c.31G>A p.D11N Missense 3/15 - 2
3-41266034-GA-CC c.31_32delinsCC p.D11P Missense 3/15 - 2
3-41266034-GGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTA-G c.31_89del p.D11Pfs*19 InFrameDeletion 3/15 - 1
3-41266034-G-T c.31G>T p.D11Y Missense 3/15 - 1
3-41266035-A-C c.32A>C p.D11A Missense 3/15 - 1
3-41266035-A-G c.32A>G p.D11G Missense 3/15 - 5
3-41266036-C-T c.33C>T p.D11= Synonymous 3/15 - 1
3-41266037-A-C c.34A>C p.M12L Missense 3/15 - 2
3-41266037-A-G c.34A>G p.M12V Missense 3/15 - 3
3-41266037-A-T c.34A>T p.M12L Missense 3/15 - 1
3-41266037-AT-GG c.34_35delinsGG p.M12G Missense 3/15 - 1
3-41266037-ATG-GAC c.34_36delinsGAC p.M12D Missense 3/15 - 1
3-41266037-ATG-TTT c.34_36delinsTTT p.M12F Missense 3/15 - 1
3-41266039-G-A c.36G>A p.M12I Missense 3/15 - 2
3-41266039-G-C c.36G>C p.M12I Missense 3/15 - 1
3-41266039-G-T c.36G>T p.M12I Missense 3/15 - 2
3-41266040-G-A c.37G>A p.A13T Missense 3/15 - 16
3-41266040-GC-AT c.37_38delinsAT p.A13I Missense 3/15 - 2
3-41266040-GCC-CAA c.37_39delinsCAA p.A13Q Missense 3/15 - 1
3-41266040-GC-CT c.37_38delinsCT p.A13L Missense 3/15 - 4
3-41266040-GCC-TGG c.37_39delinsTGG p.A13W Missense 3/15 - 3
3-41266040-GC-TG c.37_38delinsTG p.A13C Missense 3/15 - 3
3-41266040-GC-TT c.37_38delinsTT p.A13F Missense 3/15 - 1
3-41266040-G-T c.37G>T p.A13S Missense 3/15 - 2
3-41266041-C-A c.38C>A p.A13D Missense 3/15 - 1
3-41266041-CC-AG c.38_39delinsAG p.A13E Missense 3/15 - 3
3-41266041-C-T c.38C>T p.A13V Missense 3/15 - 3
3-41266041-GCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGAC-G c.38_96del p.A13Vfs*17 SpliceDonorDeletion 3/15 - 1
3-41266042-C-A c.39C>A p.A13= Synonymous 3/15 - 1
3-41266042-CCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACT-C c.40_98del p.M14Wfs*16 InFrameDeletion 3/15 - 6
3-41266042-C-G c.39C>G p.A13= Synonymous 3/15 - 1
3-41266042-C-T c.39C>T p.A13= Synonymous 3/15 - 1
3-41266041-CCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACT-C c.40_98del p.M14Wfs*16 InFrameDeletion 3/15 - 5
3-41266043-A-C c.40A>C p.M14L Missense 3/15 - 1
3-41266043-A-G c.40A>G p.M14V Missense 3/15 - 1
3-41266043-A-T c.40A>T p.M14L Missense 3/15 - 1
3-41266043-AT-CC c.40_41delinsCC p.M14P Missense 3/15 - 1
3-41266043-ATG-GAC c.40_42delinsGAC p.M14D Missense 3/15 - 1
3-41266044-T-A c.41T>A p.M14K Missense 3/15 - 1
3-41266044-T-G c.41T>G p.M14R Missense 3/15 - 1
3-41266045-G-A c.42G>A p.M14I Missense 3/15 - 1
3-41266045-G-C c.42G>C p.M14I Missense 3/15 - 2
3-41266045-G-T c.42G>T p.M14I Missense 3/15 - 2
3-41266044-TGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTG-T c.43_101del p.E15Nfs*15 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/15 - 1
3-41266046-G-A c.43G>A p.E15K Missense 3/15 - 9
3-41266046-GAA-CAT c.43_45delinsCAT p.E15H Missense 3/15 - 1
3-41266046-GAA-TGT c.43_45delinsTGT p.E15C Missense 3/15 - 1
3-41266046-G-T c.43G>T p.E15* Nonsense 3/15 - 4
3-41266047-A-G c.44A>G p.E15G Missense 3/15 - 4
3-41266046-GAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGA-G c.45_103del p.E15Dfs*15 InFrameDeletion 3/15 - 1
3-41266048-A-C c.45A>C p.E15D Missense 3/15 - 1
3-41266048-A-G c.45A>G p.E15= Synonymous 3/15 - 1
3-41266049-ACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAAT-A c.49_107del p.D17Ffs*13 InFrameDeletion 3/15 - 1
3-41266049-C-A c.46C>A p.P16T Missense 3/15 - 1
3-41266049-CCA-TTT c.46_48delinsTTT p.P16F Missense 3/15 - 1
3-41266049-CC-TA c.46_47delinsTA p.P16* Nonsense 3/15 - 1
3-41266049-C-G c.46C>G p.P16A Missense 3/15 - 1
3-41266049-C-T c.46C>T p.P16S Missense 3/15 - 4
3-41266050-C-T c.47C>T p.P16L Missense 3/15 - 7
3-41266051-A-C c.48A>C p.P16= Synonymous 3/15 - 1
3-41266051-A-G c.48A>G p.P16= Synonymous 3/15 - 1
3-41266051-A-T c.48A>T p.P16= Synonymous 3/15 - 1
3-41266048-ACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAAT-A c.49_107del p.D17Ffs*13 InFrameDeletion 3/15 - 6
3-41266052-G-A c.49G>A p.D17N Missense 3/15 - 2
3-41266052-GA-TT c.49_50delinsTT p.D17F Missense 3/15 - 1
3-41266052-G-C c.49G>C p.D17H Missense 3/15 - 1
3-41266052-G-T c.49G>T p.D17Y Missense 3/15 - 1
3-41266053-A-C c.50A>C p.D17A Missense 3/15 - 1
3-41266053-A-G c.50A>G p.D17G Missense 3/15 - 1
3-41266054-ACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATT-A c.52_110del p.R18Wfs*12 InFrameDeletion 3/15 - 5
3-41266054-C-T c.51C>T p.D17= Synonymous 3/15 - 2
3-41266055-A-G c.52A>G p.R18G Missense 3/15 - 1
3-41266055-AGA-TGG c.52_54delinsTGG p.R18W Missense 3/15 - 1
3-41266056-AGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCT-A c.54_112del p.K19Cfs*11 SpliceDonorDeletion 3/15 - 1
3-41266056-G-A c.53G>A p.R18K Missense 3/15 - 1
3-41266057-A-C c.54A>C p.R18S Missense 3/15 - 8
3-41266057-A-T c.54A>T p.R18S Missense 3/15 - 7
3-41266058-AAA-GAC c.55_57delinsGAC p.K19D Missense 3/15 - 1
3-41266058-A-G c.55A>G p.K19E Missense 3/15 - 2
3-41266059-A-G c.56A>G p.K19R Missense 3/15 - 3
3-41266059-A-T c.56A>T p.K19I Missense 3/15 - 1
3-41266060-A-C c.57A>C p.K19N Missense 3/15 - 1
3-41266060-A-G c.57A>G p.K19= Synonymous 3/15 - 3
3-41266060-A-T c.57A>T p.K19N Missense 3/15 - 1
3-41266061-AGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATC-A c.58_105del p.A20_I35del InFrameDeletion 3/15 - 5
3-41266061-AGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGC-A c.58_116del p.A20Hfs*10 InFrameDeletion 3/15 - 6
3-41266061-G-A c.58G>A p.A20T Missense 3/15 - 2
3-41266061-GC-CA c.58_59delinsCA p.A20Q Missense 3/15 - 1
3-41266061-GCG-AAC c.58_60delinsAAC p.A20N Missense 3/15 - 1
3-41266061-GCG-CAT c.58_60delinsCAT p.A20H Missense 3/15 - 1
3-41266061-GCG-TGT c.58_60delinsTGT p.A20C Missense 3/15 - 4
3-41266061-GCG-TTT c.58_60delinsTTT p.A20F Missense 3/15 - 4
3-41266061-GC-TG c.58_59delinsTG p.A20W Missense 3/15 - 5
3-41266061-G-T c.58G>T p.A20S Missense 3/15 - 2
3-41266062-C-A c.59C>A p.A20E Missense 3/15 - 1
3-41266062-CG-AC c.59_60delinsAC p.A20D Missense 3/15 - 6
3-41266062-C-T c.59C>T p.A20V Missense 3/15 - 10
3-41266062-GCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCC-G c.59_117del p.A20Dfs*10 InFrameDeletion 3/15 - 6
3-41266063-CGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCA-C c.60_118del p.A21Yfs*9 InFrameDeletion 3/15 - 6
3-41266063-G-A c.60G>A p.A20= Synonymous 3/15 - 2
3-41266063-G-C c.60G>C p.A20= Synonymous 3/15 - 2
3-41266063-G-T c.60G>T p.A20= Synonymous 3/15 - 2
3-41266064-G-A c.61G>A p.A21T Missense 3/15 - 21
3-41266064-GCT-CAA c.61_63delinsCAA p.A21Q Missense 3/15 - 3
3-41266064-GC-TT c.61_62delinsTT p.A21F Missense 3/15 - 1
3-41266064-GGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCAC-G c.61_119del p.A21Yfs*9 InFrameDeletion 3/15 - 1
3-41266063-GGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCT-G c.62_100del p.A21_S33del InFrameDeletion 3/15 - 1
3-41266065-C-T c.62C>T p.A21V Missense 3/15 - 4
3-41266065-GCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACT-G c.62_120del p.A21Dfs*9 InFrameDeletion 3/15 - 6
3-41266066-T-A c.63T>A p.A21= Synonymous 3/15 - 9
3-41266066-T-C c.63T>C p.A21= Synonymous 3/15 - 10
3-41266066-T-G c.63T>G p.A21= Synonymous 3/15 - 9
3-41266067-G-A c.64G>A p.V22I Missense 3/15 - 9
3-41266067-GTT-ATG c.64_66delinsATG p.V22M Missense 3/15 - 1
3-41266067-TGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTAC-T c.64_122del p.V22Hfs*8 InFrameDeletion 3/15 - 6
3-41266067-TGTTAGTCACTGG-T c.64_75del p.V22_W25del InFrameDeletion 3/15 - 1
3-41266064-GCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATT-G c.65_112del p.V22_S37del InFrameDeletion 3/15 - 1
3-41266064-GCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACT-G c.65_100del p.V22_S33del InFrameDeletion 3/15 - 6
3-41266065-CTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGG-C c.65_115del p.V22_G38del InFrameDeletion 3/15 - 17
3-41266068-GTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACC-G c.65_123del p.V22Dfs*8 InFrameDeletion 3/15 - 8
3-41266068-T-A c.65T>A p.V22D Missense 3/15 - 3
3-41266068-T-C c.65T>C p.V22A Missense 3/15 - 22
3-41266068-T-G c.65T>G p.V22G Missense 3/15 - 5
3-41266069-T-A c.66T>A p.V22= Synonymous 3/15 - 1
3-41266069-T-C c.66T>C p.V22= Synonymous 3/15 - 1
3-41266069-T-G c.66T>G p.V22= Synonymous 3/15 - 1
3-41266069-TTAGTCACTGGCAGCAACAGTCTTACCTGGA-T c.66_95del p.H24_S33del InFrameDeletion 3/15 - 1
3-41266068-TTAGTCACTGGCAGCAACAGTCTTACCTGGACTC-T c.67_99del p.S23_S33del InFrameDeletion 3/15 - 7
3-41266069-T-TA c.67dup p.S23Kfs*27 Frameshift 3/15 - 1
3-41266070-A-G c.67A>G p.S23G Missense 3/15 - 10
3-41266070-AG-CC c.67_68delinsCC p.S23P Missense 3/15 - 1
3-41266070-AG-GC c.67_68delinsGC p.S23A Missense 3/15 - 1
3-41266070-A-T c.67A>T p.S23C Missense 3/15 - 1
3-41266070-TAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCAC-T c.69_127del p.H24Sfs*6 InFrameDeletion 3/15 - 1
3-41266070-TAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATC-T c.67_105del p.S23_I35del InFrameDeletion 3/15 - 6
3-41266069-TAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCAC-T c.69_127del p.H24Sfs*6 InFrameDeletion 3/15 - 5
3-41266069-TAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCC-T c.68_118del p.S23_A39del InFrameDeletion 3/15 - 5
3-41266071-AGTCACTGGCAGCAACAGTCTTACCTGGACT-A c.68_97del p.S23_S33delinsT MultiAAMissense 3/15 - 1
3-41266071-G-A c.68G>A p.S23N Missense 3/15 - 4
3-41266071-G-C c.68G>C p.S23T Missense 3/15 - 1
3-41266070-A-C c.67A>C p.S23R Missense 3/15 - 11
3-41266072-T-A c.69T>A p.S23R Missense 3/15 - 8
3-41266072-T-C c.69T>C p.S23= Synonymous 3/15 - 1
3-41266072-T-G c.69T>G p.S23R Missense 3/15 - 8
3-41266070-AGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTG-A c.70_114del p.H24_G38del InFrameDeletion 3/15 - 5
3-41266073-C-T c.70C>T p.H24Y Missense 3/15 - 5
3-41266073-TCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGC-T c.70_128del p.H24Sfs*6 InFrameDeletion 3/15 - 4
3-41266073-TCACTGGCAGCAACAGTCTTACCTG-T c.70_93del p.H24_L31del InFrameDeletion 3/15 - 2
3-41266074-A-C c.71A>C p.H24P Missense 3/15 - 1
3-41266074-A-G c.71A>G p.H24R Missense 3/15 - 5
3-41266074-A-T c.71A>T p.H24L Missense 3/15 - 1
3-41266074-CACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCT-C c.71_129del p.H24Pfs*6 InFrameDeletion 3/15 - 6
3-41266072-TCACTGGCAGCAA-T c.72_83del p.H24_Q27del InFrameDeletion 3/15 - 1
3-41266075-ACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTC-A c.74_132del p.W25Ffs*5 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/15 - 2
3-41266075-C-A c.72C>A p.H24Q Missense 3/15 - 1
3-41266075-C-G c.72C>G p.H24Q Missense 3/15 - 1
3-41266075-C-T c.72C>T p.H24= Synonymous 3/15 - 2
3-41266074-ACTGGCAGCAACAGTCTTACCTGGACTCTGGAAT-A c.73_105del p.W25_I35del InFrameDeletion 3/15 - 5
3-41266074-ACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTC-A c.74_132del p.W25Ffs*5 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/15 - 11
3-41266076-CTGGCAGCAACAGTCTTACCTGGACTCT-C c.73_99del p.W25_S33del InFrameDeletion 3/15 - 5
3-41266076-T-A c.73T>A p.W25R Missense 3/15 - 2
3-41266076-T-C c.73T>C p.W25R Missense 3/15 - 2
3-41266073-CACTGGCAGCAACAGTCTTACCTGG-C c.74_97del p.W25_D32del InFrameDeletion 3/15 - 18
3-41266075-CTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCAT-C c.74_109del p.W25_H36del InFrameDeletion 3/15 - 5
3-41266077-G-A c.74G>A p.W25* Nonsense 3/15 - 14
3-41266077-G-T c.74G>T p.W25L Missense 3/15 - 6
3-41266077-TGGCAGCAACAGTCTTACCTGG-T c.74_94del p.W25_D32delinsY MultiAAMissense 3/15 - 1
3-41266078-G-A c.75G>A p.W25* Nonsense 3/15 - 8
3-41266078-GGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTT-G c.75_133del p.W25Cfs*5 SpliceDonorDeletion 3/15 - 1
3-41266077-GGCAGCAACA-G c.76_84del p.Q26_Q28del InFrameDeletion 3/15 - 1
3-41266077-GGCAGCAACAGTCTTACCT-G c.76_93del p.Q26_L31del InFrameDeletion 3/15 - 1
3-41266079-C-T c.76C>T p.Q26* Nonsense 3/15 - 2
3-41266080-A-G c.77A>G p.Q26R Missense 3/15 - 9
3-41266081-G-A c.78G>A p.Q26= Synonymous 3/15 - 1
3-41266081-G-T c.78G>T p.Q26H Missense 3/15 - 1
3-41266082-C-T c.79C>T p.Q27* Nonsense 3/15 - 5
3-41266083-A-AGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGC c.80_81insGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGC p.Q27_Q28insINYQDDAELATRA InFrameInsertion 3/15 - 1
3-41266083-A-G c.80A>G p.Q27R Missense 3/15 - 1
3-41266084-A-G c.81A>G p.Q27= Synonymous 3/15 - 2
3-41266084-A-T c.81A>T p.Q27H Missense 3/15 - 1
3-41266083-AACAGTCTTACCTGGACTCTGG-A c.82_102del p.Q28_G34del InFrameDeletion 3/15 - 2
3-41266085-ACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAG-A c.82_140del p.Q28Wfs*2 InFrameDeletion 3/15 - 9
3-41266085-CAG-GAC c.82_84delinsGAC p.Q28D Missense 3/15 - 2
3-41266085-C-T c.82C>T p.Q28* Nonsense 3/15 - 2
3-41266084-ACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCT-A c.83_130del p.Q28_A43del InFrameDeletion 3/15 - 5
3-41266086-A-G c.83A>G p.Q28R Missense 3/15 - 3
3-41266086-A-T c.83A>T p.Q28L Missense 3/15 - 1
3-41266085-CAGTCTTACCTGG-C c.84_95del p.Q28_D32delinsH MultiAAMissense 3/15 - 1
3-41266087-G-A c.84G>A p.Q28= Synonymous 3/15 - 1
3-41266087-G-C c.84G>C p.Q28H Missense 3/15 - 3
3-41266087-G-T c.84G>T p.Q28H Missense 3/15 - 2
3-41266088-GTCTTACCTGGACTCTGGA-G c.85_102del p.S29_G34del InFrameDeletion 3/15 - 1
3-41266088-T-A c.85T>A p.S29T Missense 3/15 - 3
3-41266088-T-C c.85T>C p.S29P Missense 3/15 - 5
3-41266088-TCT-CAA c.85_87delinsCAA p.S29Q Missense 3/15 - 1
3-41266088-T-G c.85T>G p.S29A Missense 3/15 - 4
3-41266089-C-A c.86C>A p.S29Y Missense 3/15 - 2
3-41266089-C-G c.86C>G p.S29C Missense 3/15 - 1
3-41266089-C-T c.86C>T p.S29F Missense 3/15 - 12
3-41266090-CTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTA-C c.87_145del p.Y30Rfs*4 SpliceDonorDeletion 3/15 - 1
3-41266090-T-A c.87T>A p.S29= Synonymous 3/15 - 2
3-41266090-T-C c.87T>C p.S29= Synonymous 3/15 - 2
3-41266090-T-G c.87T>G p.S29= Synonymous 3/15 - 3
3-41266087-GTCTTACCTGGAC-G c.88_99del p.Y30_S33del InFrameDeletion 3/15 - 13
3-41266087-GTCTTACCTGGACTCTGGAATCCAT-G c.88_111del p.Y30_S37del InFrameDeletion 3/15 - 5
3-41266088-TCTTACCTGGACTCTGGAATCCATTCTGGTGCCA-T c.88_120del p.Y30_T40del InFrameDeletion 3/15 - 5
3-41266091-TAC-GAG c.88_90delinsGAG p.Y30E Missense 3/15 - 1
3-41266091-TA-GG c.88_89delinsGG p.Y30G Missense 3/15 - 1
3-41266091-T-C c.88T>C p.Y30H Missense 3/15 - 2
3-41266091-T-G c.88T>G p.Y30D Missense 3/15 - 1
3-41266091-TTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAA-T c.88_146del p.Y30Rfs*4 InFrameDeletion 3/15 - 6
3-41266092-A-C c.89A>C p.Y30S Missense 3/15 - 3
3-41266092-A-G c.89A>G p.Y30C Missense 3/15 - 5
3-41266092-A-T c.89A>T p.Y30F Missense 3/15 - 1
3-41266091-TACCTGGACTCTGGAATCC-T c.90_107del p.L31_H36del InFrameDeletion 3/15 - 1
3-41266093-C-A c.90C>A p.Y30* Nonsense 3/15 - 11
3-41266093-C-G c.90C>G p.Y30* Nonsense 3/15 - 10
3-41266093-C-T c.90C>T p.Y30= Synonymous 3/15 - 2
3-41266091-TACCTGG-T c.91_96del p.L31_D32del InFrameDeletion 3/15 - 1
3-41266094-C-A c.91C>A p.L31M Missense 3/15 - 7
3-41266094-C-G c.91C>G p.L31V Missense 3/15 - 2
3-41266094-C-T c.91C>T p.L31= Synonymous 3/15 - 10
3-41266094-CT-TG c.91_92delinsTG p.L31W Missense 3/15 - 1
3-41266092-ACCTGGACTCTGGAAT-A c.92_106del p.L31_I35del InFrameDeletion 3/15 - 5
3-41266095-T-A c.92T>A p.L31Q Missense 3/15 - 2
3-41266095-T-C c.92T>C p.L31P Missense 3/15 - 4
3-41266095-T-G c.92T>G p.L31R Missense 3/15 - 1
3-41266095-TG-AT c.92_93delinsAT p.L31H Missense 3/15 - 1
3-41266094-CTGGACTCTGGAA-C c.93_104del p.D32_I35del InFrameDeletion 3/15 - 2
3-41266096-G-A c.93G>A p.L31= Synonymous 3/15 - 2
3-41266096-G-C c.93G>C p.L31= Synonymous 3/15 - 2
3-41266096-G-T c.93G>T p.L31= Synonymous 3/15 - 3
3-41266096-TGGACTCTGGAATCCATTCTGG-T c.93_113del p.D32_G38del InFrameDeletion 3/15 - 1
3-41266096-TGGACTCTGGAATCCATTCTGGTGC-T c.93_116del p.D32_A39del InFrameDeletion 3/15 - 1
3-41266097-G-A c.94G>A p.D32N Missense 3/15 - 167
3-41266097-GAC-CAA c.94_96delinsCAA p.D32Q Missense 3/15 - 1
3-41266097-GA-TT c.94_95delinsTT p.D32F Missense 3/15 - 2
3-41266097-G-C c.94G>C p.D32H Missense 3/15 - 96
3-41266097-GGAC-G c.94_96del p.D32del InFrameDeletion 3/15 - 8
3-41266097-GGACTCTGGAATCCAT-G c.94_108del p.D32_H36del InFrameDeletion 3/15 - 5
3-41266097-G-T c.94G>T p.D32Y Missense 3/15 - 152
3-41266096-GGACTCT-G c.95_100del p.D32_S33del InFrameDeletion 3/15 - 1
3-41266096-GGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGT-G c.95_142del p.D32_S47del InFrameDeletion 3/15 - 5
3-41266098-A-C c.95A>C p.D32A Missense 3/15 - 80
3-41266098-A-G c.95A>G p.D32G Missense 3/15 - 140
3-41266098-A-T c.95A>T p.D32V Missense 3/15 - 119
3-41266097-GACTCTGGAATCC-G c.96_107del p.I35_G38del InFrameDeletion 3/15 - 2
3-41266098-A-ACAG c.96_97insAGC p.S33dup InFrameInsertion 3/15 - 5
3-41266099-ACTCTGGAATCCATTCTGG-A c.96_113del p.S33_G38del InFrameDeletion 3/15 - 2
3-41266099-ACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATC-A c.98_156del p.S33* InFrameDeletion 3/15 - 1
3-41266099-C-A c.96C>A p.D32E Missense 3/15 - 14
3-41266099-C-G c.96C>G p.D32E Missense 3/15 - 10
3-41266099-C-T c.96C>T p.D32= Synonymous 3/15 - 3
3-41266098-ACTCTGGAAT-A c.97_105del p.S33_I35del InFrameDeletion 3/15 - 1
3-41266100-CTCT-C c.97_99del p.S33del InFrameDeletion 3/15 - 5
3-41266100-CTCTGGAATCCATTCT-C c.97_111del p.S33_S37del InFrameDeletion 3/15 - 4
3-41266100-CTCTGGAATCCATTCTGGT-C c.97_114del p.S33_G38del InFrameDeletion 3/15 - 1
3-41266100-CTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGT-C c.97_144del p.S33_G48del InFrameDeletion 3/15 - 1
3-41266100-CTCTGGA-C c.97_102del p.S33_G34del InFrameDeletion 3/15 - 3
3-41266100-T-A c.97T>A p.S33T Missense 3/15 - 17
3-41266100-T-C c.97T>C p.S33P Missense 3/15 - 95
3-41266100-TC-AA c.97_98delinsAA p.S33N Missense 3/15 - 14
3-41266100-TC-CT c.97_98delinsCT p.S33L Missense 3/15 - 14
3-41266100-TC-GA c.97_98inv p.S33D Missense 3/15 - 1
3-41266100-TCT-GAG c.97_99delinsGAG p.S33E Missense 3/15 - 1
3-41266100-T-G c.97T>G p.S33A Missense 3/15 - 101
3-41266101-C-A c.98C>A p.S33Y Missense 3/15 - 260
3-41266101-C-G c.98C>G p.S33C Missense 3/15 - 223
3-41266101-C-T c.98C>T p.S33F Missense 3/15 - 185
3-41266102-CT-C c.99del p.G34Efs*13 Frameshift 3/15 - 1
3-41266102-CTG-C c.99_100del p.G34Nfs*15 Frameshift 3/15 - 1
3-41266102-T-A c.99T>A p.S33= Synonymous 3/15 - 6
3-41266102-T-C c.99T>C p.S33= Synonymous 3/15 - 11
3-41266102-T-G c.99T>G p.S33= Synonymous 3/15 - 6
3-41266102-T-TAGC c.99_100insAGC p.S33dup InFrameInsertion 3/15 - 3
3-41266103-G-A c.100G>A p.G34R Missense 3/15 - 150
3-41266103-G-C c.100G>C p.G34R Missense 3/15 - 129
3-41266103-GGA-AGC c.100_102delinsAGC p.G34S Missense 3/15 - 1
3-41266103-GG-AT c.100_101delinsAT p.G34I Missense 3/15 - 4
3-41266103-GGA-TAT c.100_102delinsTAT p.G34Y Missense 3/15 - 1
3-41266103-GGA-TGG c.100_102delinsTGG p.G34W Missense 3/15 - 2
3-41266103-GGA-TGT c.100_102delinsTGT p.G34C Missense 3/15 - 2
3-41266103-GG-CT c.100_101delinsCT p.G34L Missense 3/15 - 4
3-41266103-GG-TT c.100_101delinsTT p.G34L Missense 3/15 - 1
3-41266103-G-T c.100G>T p.G34* Nonsense 3/15 - 4
3-41266103-TGGAATCCATTCTGGTGCCACTACC-T c.100_123del p.G34_T41del InFrameDeletion 3/15 - 1
3-41266103-TGGAATC-T c.100_105del p.G34_I35del InFrameDeletion 3/15 - 1
3-41266101-CTGGAATCCATTCTGG-C c.101_115del p.G34_G38del InFrameDeletion 3/15 - 1
3-41266102-TG-T c.101del p.G34Efs*13 Frameshift 3/15 - 1
3-41266102-T-TGGTACAAGC c.101_102insTACAAGCGG p.G34_I35insTSG InFrameInsertion 3/15 - 4
3-41266102-T-TGGTATC c.101_102insTATCGG p.G34_I35dup InFrameInsertion 3/15 - 4
3-41266104-G-A c.101G>A p.G34E Missense 3/15 - 165
3-41266104-GA-AC c.101_102delinsAC p.G34D Missense 3/15 - 1
3-41266104-G-C c.101G>C p.G34A Missense 3/15 - 18
3-41266104-GGAA-G c.101_103del p.G34_I35delinsV MultiAAMissense 3/15 - 1
3-41266104-G-GGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGC c.101_102insGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGC p.I35_H36insNYQDDAELATRAI InFrameInsertion 3/15 - 1
3-41266104-G-T c.101G>T p.G34V Missense 3/15 - 163
3-41266099-CTCTGGAATCCAT-C c.102_113del p.I35_G38del InFrameDeletion 3/15 - 5
3-41266105-A-C c.102A>C p.G34= Synonymous 3/15 - 3
3-41266105-A-G c.102A>G p.G34= Synonymous 3/15 - 3
3-41266105-A-T c.102A>T p.G34= Synonymous 3/15 - 3
3-41266102-TGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGA-T c.104_162del p.I35Rfs*11 InFrameDeletion 3/15 - 5
3-41266106-AATC-A c.103_105del p.I35del InFrameDeletion 3/15 - 1
3-41266106-AATCCATTCTGGT-A c.103_114del p.I35_G38del InFrameDeletion 3/15 - 5
3-41266106-A-G c.103A>G p.I35V Missense 3/15 - 5
3-41266106-AT-GG c.103_104delinsGG p.I35G Missense 3/15 - 1
3-41266105-AATCCATTCTGGTGCCACTACC-A c.104_124del p.I35_T41del InFrameDeletion 3/15 - 4
3-41266107-T-A c.104T>A p.I35N Missense 3/15 - 8
3-41266107-T-C c.104T>C p.I35T Missense 3/15 - 24
3-41266107-TC-AG c.104_105delinsAG p.I35K Missense 3/15 - 7
3-41266107-T-G c.104T>G p.I35S Missense 3/15 - 59
3-41266104-G-GAATCAACTATCAAGACGACGCAGAGCTTGCAACAAGGGC c.105_106insAACTATCAAGACGACGCAGAGCTTGCAACAAGGGCAATC p.I35_H36insNYQDDAELATRAI InFrameInsertion 3/15 - 1
3-41266108-C-A c.105C>A p.I35= Synonymous 3/15 - 5
3-41266108-C-G c.105C>G p.I35M Missense 3/15 - 4
3-41266108-C-T c.105C>T p.I35= Synonymous 3/15 - 9
3-41266109-C-A c.106C>A p.H36N Missense 3/15 - 1
3-41266109-CA-AG c.106_107delinsAG p.H36S Missense 3/15 - 1
3-41266109-CA-GG c.106_107delinsGG p.H36G Missense 3/15 - 1
3-41266109-CATTCTGGTGCCACTA-GTAC c.106_121delinsGTAC p.H36_T41delinsVP MultiAAMissense 3/15 - 1
3-41266109-CCAT-C c.106_108del p.H36del InFrameDeletion 3/15 - 7
3-41266109-C-G c.106C>G p.H36D Missense 3/15 - 1
3-41266109-C-T c.106C>T p.H36Y Missense 3/15 - 26
3-41266108-CCATTCTGGTGCCACTACCACAGCTCCTTCT-C c.107_136del p.H36_S45del InFrameDeletion 3/15 - 1
3-41266110-A-C c.107A>C p.H36P Missense 3/15 - 70
3-41266110-A-G c.107A>G p.H36R Missense 3/15 - 14
3-41266110-A-T c.107A>T p.H36L Missense 3/15 - 1
3-41266110-CATTCTGGTGCCA-C c.107_118del p.H36_T40delinsP MultiAAMissense 3/15 - 1
3-41266111-T-A c.108T>A p.H36Q Missense 3/15 - 2
3-41266111-T-C c.108T>C p.H36= Synonymous 3/15 - 1
3-41266111-T-G c.108T>G p.H36Q Missense 3/15 - 2
3-41266110-ATTC-A c.109_111del p.S37del InFrameDeletion 3/15 - 4
3-41266112-T-A c.109T>A p.S37T Missense 3/15 - 9
3-41266112-T-C c.109T>C p.S37P Missense 3/15 - 75
3-41266112-TC-CT c.109_110delinsCT p.S37L Missense 3/15 - 1
3-41266112-T-G c.109T>G p.S37A Missense 3/15 - 160
3-41266113-C-A c.110C>A p.S37Y Missense 3/15 - 109
3-41266113-C-G c.110C>G p.S37C Missense 3/15 - 238
3-41266113-C-T c.110C>T p.S37F Missense 3/15 - 269
3-41266113-CTG-TTT c.110_112delinsTTT p.S37_G38delinsFC MultiAAMissense 3/15 - 1
3-41266113-CT-TA c.110_111delinsTA p.S37L Missense 3/15 - 1
3-41266113-TCTG-T c.110_112del p.S37_G38delinsC MultiAAMissense 3/15 - 1
3-41266114-T-A c.111T>A p.S37= Synonymous 3/15 - 3
3-41266114-T-C c.111T>C p.S37= Synonymous 3/15 - 5
3-41266114-T-G c.111T>G p.S37= Synonymous 3/15 - 2
3-41266110-ATTCTGGTGCCACTACCACAGCTCC-A c.112_135del p.G38_S45del InFrameDeletion 3/15 - 3
3-41266115-G-A c.112G>A p.G38S Missense 3/15 - 3
3-41266115-G-C c.112G>C p.G38R Missense 3/15 - 1
3-41266115-GG-AA c.112_113delinsAA p.G38N Missense 3/15 - 1
3-41266115-GG-CC c.112_113inv p.G38P Missense 3/15 - 5
3-41266115-G-T c.112G>T p.G38C Missense 3/15 - 1
3-41266113-CTGG-C c.113_115del p.G38del InFrameDeletion 3/15 - 7
3-41266116-G-A c.113G>A p.G38D Missense 3/15 - 7
3-41266116-G-C c.113G>C p.G38A Missense 3/15 - 3
3-41266116-G-T c.113G>T p.G38V Missense 3/15 - 4
3-41266117-T-A c.114T>A p.G38= Synonymous 3/15 - 1
3-41266117-T-C c.114T>C p.G38= Synonymous 3/15 - 3
3-41266117-T-G c.114T>G p.G38= Synonymous 3/15 - 1
3-41266116-GTGCCAC-G c.115_120del p.A39_T40del InFrameDeletion 3/15 - 1
3-41266116-GTGCCACTACCACAGCTCCTTC-G c.115_135del p.A39_S45del InFrameDeletion 3/15 - 1
3-41266118-G-A c.115G>A p.A39T Missense 3/15 - 7
3-41266118-GCC-TAA c.115_117delinsTAA p.A39* Nonsense 3/15 - 1
3-41266118-GCC-TGG c.115_117delinsTGG p.A39W Missense 3/15 - 1
3-41266118-GC-TA c.115_116delinsTA p.A39Y Missense 3/15 - 1
3-41266118-G-T c.115G>T p.A39S Missense 3/15 - 2
3-41266118-TGCC-T c.115_117del p.A39del InFrameDeletion 3/15 - 1
3-41266116-GTGCCACTACCACAGCTCCTTCTC-G c.116_138del p.A39Efs*3 Frameshift 3/15 - 1
3-41266117-TGCCACTACCACAGCTCCTTCTCTGAGTGGTAAA-T c.116_148del p.A39_K49del InFrameDeletion 3/15 - 1
3-41266119-CC-AG c.116_117delinsAG p.A39E Missense 3/15 - 1
3-41266119-C-G c.116C>G p.A39G Missense 3/15 - 4
3-41266119-C-T c.116C>T p.A39V Missense 3/15 - 12
3-41266117-TGCCACTACCACA-T c.117_128del p.T40_A43del InFrameDeletion 3/15 - 3
3-41266120-C-A c.117C>A p.A39= Synonymous 3/15 - 4
3-41266120-C-G c.117C>G p.A39= Synonymous 3/15 - 4
3-41266120-C-T c.117C>T p.A39= Synonymous 3/15 - 4
3-41266121-A-C c.118A>C p.T40P Missense 3/15 - 2
3-41266121-A-G c.118A>G p.T40A Missense 3/15 - 7
3-41266120-CACTACCACAGCTCCTTCTCTG-C c.119_139del p.T40_L46del InFrameDeletion 3/15 - 3
3-41266121-A-T c.118A>T p.T40S Missense 3/15 - 4
3-41266122-C-G c.119C>G p.T40S Missense 3/15 - 4
3-41266122-C-T c.119C>T p.T40I Missense 3/15 - 16
3-41266120-CACT-C c.120_122del p.T42del InFrameDeletion 3/15 - 1
3-41266123-T-A c.120T>A p.T40= Synonymous 3/15 - 2
3-41266123-T-C c.120T>C p.T40= Synonymous 3/15 - 4
3-41266123-T-G c.120T>G p.T40= Synonymous 3/15 - 2
3-41266124-A-C c.121A>C p.T41P Missense 3/15 - 40
3-41266124-AC-TT c.121_122delinsTT p.T41F Missense 3/15 - 1
3-41266124-A-G c.121A>G p.T41A Missense 3/15 - 393
3-41266124-A-T c.121A>T p.T41S Missense 3/15 - 35
3-41266125-C-A c.122C>A p.T41N Missense 3/15 - 38
3-41266125-C-G c.122C>G p.T41S Missense 3/15 - 24
3-41266125-C-T c.122C>T p.T41I Missense 3/15 - 166
3-41266123-TACC-T c.123_125del p.T42del InFrameDeletion 3/15 - 1
3-41266126-C-A c.123C>A p.T41= Synonymous 3/15 - 6
3-41266126-C-G c.123C>G p.T41= Synonymous 3/15 - 6
3-41266126-C-T c.123C>T p.T41= Synonymous 3/15 - 10
3-41266122-CTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGA-C c.124_177del p.T42_T59del InFrameDeletion 3/15 - 1
3-41266127-A-G c.124A>G p.T42A Missense 3/15 - 7
3-41266127-A-T c.124A>T p.T42S Missense 3/15 - 1
3-41266127-CACAGCTCCTTCTCTGAGTGGTAAA-C c.124_147del p.T42_K49del InFrameDeletion 3/15 - 2
3-41266125-CCA-C c.125_126del p.T42Sfs*7 Frameshift 3/15 - 3
3-41266126-CACAGCTCCTTCTCTGAGTGGT-C c.125_145del p.T42_G48del InFrameDeletion 3/15 - 2
3-41266128-AC-A c.125del p.T42Kfs*5 Frameshift 3/15 - 2
3-41266128-CA-TG c.125_126inv p.T42M Missense 3/15 - 1
3-41266128-C-G c.125C>G p.T42R Missense 3/15 - 10
3-41266128-C-T c.125C>T p.T42I Missense 3/15 - 9
3-41266129-A-AAGCAGC c.126_127insAGCAGC p.T42_A43insSS InFrameInsertion 3/15 - 1
3-41266129-A-C c.126A>C p.T42= Synonymous 3/15 - 1
3-41266129-A-G c.126A>G p.T42= Synonymous 3/15 - 6
3-41266129-A-T c.126A>T p.T42= Synonymous 3/15 - 1
3-41266130-G-A c.127G>A p.A43T Missense 3/15 - 7
3-41266130-G-C c.127G>C p.A43P Missense 3/15 - 3
3-41266130-GC-AA c.127_128delinsAA p.A43N Missense 3/15 - 1
3-41266130-GC-AT c.127_128delinsAT p.A43I Missense 3/15 - 2
3-41266130-GC-CA c.127_128delinsCA p.A43H Missense 3/15 - 1
3-41266130-GC-CG c.127_128delinsCG p.A43R Missense 3/15 - 1
3-41266130-GCT-ATG c.127_129delinsATG p.A43M Missense 3/15 - 1
3-41266130-GC-TG c.127_128delinsTG p.A43C Missense 3/15 - 1
3-41266128-CAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGA-C c.128_163del p.A43_E54del InFrameDeletion 3/15 - 2
3-41266129-AGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAG-A c.128_160del p.A43_E53del InFrameDeletion 3/15 - 2
3-41266131-C-A c.128C>A p.A43D Missense 3/15 - 3
3-41266131-C-G c.128C>G p.A43G Missense 3/15 - 1
3-41266131-C-T c.128C>T p.A43V Missense 3/15 - 11
3-41266131-CT-AG c.128_129inv p.A43E Missense 3/15 - 1
3-41266132-CTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGAT-C c.129_168del p.P44Wfs*23 Frameshift 3/15 - 1
3-41266132-T-A c.129T>A p.A43= Synonymous 3/15 - 2
3-41266132-T-C c.129T>C p.A43= Synonymous 3/15 - 3
3-41266132-T-G c.129T>G p.A43= Synonymous 3/15 - 2
3-41266130-GCTC-G c.130_132del p.P44del InFrameDeletion 3/15 - 2
3-41266133-C-G c.130C>G p.P44A Missense 3/15 - 22
3-41266133-C-T c.130C>T p.P44S Missense 3/15 - 9
3-41266130-GCTCCTT-G c.131_136del p.P44_S45del InFrameDeletion 3/15 - 2
3-41266132-TCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCC-T c.131_181del p.P44_S60del InFrameDeletion 3/15 - 1
3-41266134-C-A c.131C>A p.P44H Missense 3/15 - 2
3-41266134-C-G c.131C>G p.P44R Missense 3/15 - 2
3-41266134-C-T c.131C>T p.P44L Missense 3/15 - 14
3-41266132-T-TCCTGGTGCAACAACAACAGCA c.132_133insGGTGCAACAACAACAGCACCT p.G38_P44dup InFrameInsertion 3/15 - 2
3-41266135-CTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGA-C c.132_164del p.S45_E55del InFrameDeletion 3/15 - 1
3-41266135-T-A c.132T>A p.P44= Synonymous 3/15 - 1
3-41266135-T-C c.132T>C p.P44= Synonymous 3/15 - 2
3-41266135-T-G c.132T>G p.P44= Synonymous 3/15 - 1
3-41266131-CTCCTTCTCTGAGTGGTAAAGGCAA-C c.133_156del p.S45_P52del InFrameDeletion 3/15 - 3
3-41266133-CCTT-C c.133_135del p.S45del InFrameDeletion 3/15 - 96
3-41266134-CTTCTCTGAG-C c.133_141del p.S45_S47del InFrameDeletion 3/15 - 3
3-41266134-CTTCTCTGAGTGG-C c.133_144del p.S45_G48del InFrameDeletion 3/15 - 3
3-41266134-CTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGA-C c.133_174del p.S45_D58del InFrameDeletion 3/15 - 2
3-41266136-T-A c.133T>A p.S45T Missense 3/15 - 14
3-41266136-T-C c.133T>C p.S45P Missense 3/15 - 298
3-41266136-TC-AA c.133_134delinsAA p.S45N Missense 3/15 - 2
3-41266136-TC-CT c.133_134delinsCT p.S45L Missense 3/15 - 4
3-41266136-TC-GA c.133_134inv p.S45D Missense 3/15 - 4
3-41266136-TC-GT c.133_134delinsGT p.S45V Missense 3/15 - 1
3-41266136-TCT-GAG c.133_135delinsGAG p.S45E Missense 3/15 - 4
3-41266136-T-G c.133T>G p.S45A Missense 3/15 - 79
3-41266136-TTCTCTGAGTGGTAAAGGCAATCCTGAGGAA-T c.133_162del p.S45_E54del InFrameDeletion 3/15 - 2
3-41266136-TTCTCTG-T c.133_138del p.L46_S47del InFrameDeletion 3/15 - 3
3-41266137-C-A c.134C>A p.S45Y Missense 3/15 - 113
3-41266137-C-G c.134C>G p.S45C Missense 3/15 - 89
3-41266137-C-T c.134C>T p.S45F Missense 3/15 - 404
3-41266137-CT-AA c.134_135delinsAA p.S45* Nonsense 3/15 - 3
3-41266137-TCTC-T c.134_136del p.S45del InFrameDeletion 3/15 - 5
3-41266137-TCTCTGA-T c.134_139del p.S45_S47delinsC MultiAAMissense 3/15 - 2
3-41266138-T-A c.135T>A p.S45= Synonymous 3/15 - 6
3-41266138-T-C c.135T>C p.S45= Synonymous 3/15 - 9
3-41266138-T-G c.135T>G p.S45= Synonymous 3/15 - 6
3-41266137-CTCTGAG-C c.136_141del p.L46_S47del InFrameDeletion 3/15 - 1
3-41266139-C-A c.136C>A p.L46M Missense 3/15 - 2
3-41266139-C-G c.136C>G p.L46V Missense 3/15 - 5
3-41266139-CTG-ATC c.136_138delinsATC p.L46I Missense 3/15 - 1
3-41266139-CT-GC c.136_137delinsGC p.L46A Missense 3/15 - 1
3-41266139-C-CT c.137dup p.S47Efs*3 Frameshift 3/15 - 2
3-41266140-T-C c.137T>C p.L46P Missense 3/15 - 7
3-41266140-T-G c.137T>G p.L46R Missense 3/15 - 2
3-41266139-C-T c.136C>T p.L46= Synonymous 3/15 - 9
3-41266141-G-A c.138G>A p.L46= Synonymous 3/15 - 10
3-41266141-G-C c.138G>C p.L46= Synonymous 3/15 - 7
3-41266141-G-GT c.138_139insT p.S47* Nonsense 3/15 - 1
3-41266141-G-T c.138G>T p.L46= Synonymous 3/15 - 7
3-41266142-A-G c.139A>G p.S47G Missense 3/15 - 5
3-41266142-AG-CT c.139_140inv p.S47L Missense 3/15 - 1
3-41266142-AG-GC c.139_140delinsGC p.S47A Missense 3/15 - 2
3-41266142-AG-TA c.139_140delinsTA p.S47Y Missense 3/15 - 1
3-41266142-AGT-GAG c.139_141delinsGAG p.S47E Missense 3/15 - 1
3-41266142-A-T c.139A>T p.S47C Missense 3/15 - 1
3-41266142-GAGT-G c.139_141del p.S47del InFrameDeletion 3/15 - 2
3-41266143-G-A c.140G>A p.S47N Missense 3/15 - 9
3-41266143-G-C c.140G>C p.S47T Missense 3/15 - 3
3-41266143-G-T c.140G>T p.S47I Missense 3/15 - 1
3-41266142-A-C c.139A>C p.S47R Missense 3/15 - 2
3-41266144-T-A c.141T>A p.S47R Missense 3/15 - 3
3-41266144-T-C c.141T>C p.S47= Synonymous 3/15 - 1
3-41266144-T-G c.141T>G p.S47R Missense 3/15 - 2
3-41266142-AGTG-A c.142_144del p.G48del InFrameDeletion 3/15 - 2
3-41266145-G-A c.142G>A p.G48S Missense 3/15 - 2
3-41266145-G-T c.142G>T p.G48C Missense 3/15 - 2
3-41266146-G-A c.143G>A p.G48D Missense 3/15 - 8
3-41266146-G-T c.143G>T p.G48V Missense 3/15 - 3
3-41266147-T-A c.144T>A p.G48= Synonymous 3/15 - 1
3-41266147-T-C c.144T>C p.G48= Synonymous 3/15 - 1
3-41266147-T-G c.144T>G p.G48= Synonymous 3/15 - 1
3-41266148-AA-CT c.145_146delinsCT p.K49L Missense 3/15 - 3
3-41266148-AA-GG c.145_146delinsGG p.K49G Missense 3/15 - 1
3-41266148-A-C c.145A>C p.K49Q Missense 3/15 - 1
3-41266148-A-G c.145A>G p.K49E Missense 3/15 - 5
3-41266148-TAAA-T c.145_147del p.K49del InFrameDeletion 3/15 - 1
3-41266149-A-G c.146A>G p.K49R Missense 3/15 - 10
3-41266150-A-G c.147A>G p.K49= Synonymous 3/15 - 2
3-41266151-G-A c.148G>A p.G50S Missense 3/15 - 5
3-41266152-G-A c.149G>A p.G50D Missense 3/15 - 6
3-41266152-G-T c.149G>T p.G50V Missense 3/15 - 1
3-41266153-C-A c.150C>A p.G50= Synonymous 3/15 - 1
3-41266153-C-G c.150C>G p.G50= Synonymous 3/15 - 1
3-41266153-C-T c.150C>T p.G50= Synonymous 3/15 - 1
3-41266154-AAT-CAA c.151_153delinsCAA p.N51Q Missense 3/15 - 1
3-41266154-A-C c.151A>C p.N51H Missense 3/15 - 1
3-41266154-A-G c.151A>G p.N51D Missense 3/15 - 2
3-41266155-A-G c.152A>G p.N51S Missense 3/15 - 5
3-41266156-T-G c.153T>G p.N51K Missense 3/15 - 1
3-41266155-ATCC-A c.154_156del p.P52del InFrameDeletion 3/15 - 2
3-41266157-C-G c.154C>G p.P52A Missense 3/15 - 1
3-41266158-C-A c.155C>A p.P52H Missense 3/15 - 2
3-41266158-C-T c.155C>T p.P52L Missense 3/15 - 3
3-41266159-T-A c.156T>A p.P52= Synonymous 3/15 - 1
3-41266159-T-C c.156T>C p.P52= Synonymous 3/15 - 1
3-41266159-T-G c.156T>G p.P52= Synonymous 3/15 - 1
3-41266160-G-A c.157G>A p.E53K Missense 3/15 - 11
3-41266160-G-C c.157G>C p.E53Q Missense 3/15 - 1
3-41266161-A-C c.158A>C p.E53A Missense 3/15 - 2
3-41266161-A-G c.158A>G p.E53G Missense 3/15 - 2
3-41266161-A-T c.158A>T p.E53V Missense 3/15 - 3
3-41266159-TGAG-T c.159_161del p.E55del InFrameDeletion 3/15 - 1
3-41266162-G-C c.159G>C p.E53D Missense 3/15 - 1
3-41266162-G-T c.159G>T p.E53D Missense 3/15 - 1
3-41266163-G-A c.160G>A p.E54K Missense 3/15 - 6
3-41266163-GAA-TGT c.160_162delinsTGT p.E54C Missense 3/15 - 1
3-41266163-G-T c.160G>T p.E54* Nonsense 3/15 - 1
3-41266164-A-G c.161A>G p.E54G Missense 3/15 - 1
3-41266162-GGAA-G c.162_164del p.E55del InFrameDeletion 3/15 - 1
3-41266165-A-C c.162A>C p.E54D Missense 3/15 - 5
3-41266165-A-T c.162A>T p.E54D Missense 3/15 - 4
3-41266166-G-A c.163G>A p.E55K Missense 3/15 - 9
3-41266166-G-C c.163G>C p.E55Q Missense 3/15 - 3
3-41266166-G-T c.163G>T p.E55* Nonsense 3/15 - 3
3-41266167-A-C c.164A>C p.E55A Missense 3/15 - 1
3-41266167-A-G c.164A>G p.E55G Missense 3/15 - 2
3-41266167-A-T c.164A>T p.E55V Missense 3/15 - 1
3-41266165-AGAG-A c.165_167del p.E55del InFrameDeletion 3/15 - 1
3-41266168-G-C c.165G>C p.E55D Missense 3/15 - 1
3-41266168-G-T c.165G>T p.E55D Missense 3/15 - 1
3-41266169-G-A c.166G>A p.D56N Missense 3/15 - 6
3-41266170-A-C c.167A>C p.D56A Missense 3/15 - 1
3-41266170-A-G c.167A>G p.D56G Missense 3/15 - 2
3-41266171-T-C c.168T>C p.D56= Synonymous 3/15 - 1
3-41266172-G-A c.169G>A p.V57M Missense 3/15 - 2
3-41266172-G-T c.169G>T p.V57L Missense 3/15 - 1
3-41266171-TGTG-T c.170_172del p.V57del InFrameDeletion 3/15 - 1
3-41266173-T-C c.170T>C p.V57A Missense 3/15 - 2
3-41266173-TG-AC c.170_171delinsAC p.V57D Missense 3/15 - 1
3-41266175-G-A c.172G>A p.D58N Missense 3/15 - 3
3-41266175-G-T c.172G>T p.D58Y Missense 3/15 - 2
3-41266176-A-C c.173A>C p.D58A Missense 3/15 - 1
3-41266176-A-T c.173A>T p.D58V Missense 3/15 - 1
3-41266177-T-A c.174T>A p.D58E Missense 3/15 - 1
3-41266177-T-G c.174T>G p.D58E Missense 3/15 - 1
3-41266178-A-G c.175A>G p.T59A Missense 3/15 - 4
3-41266178-TACC-T c.175_177del p.T59del InFrameDeletion 3/15 - 1
3-41266179-C-A c.176C>A p.T59N Missense 3/15 - 1
3-41266179-C-T c.176C>T p.T59I Missense 3/15 - 2
3-41266178-ACCT-A c.178_180del p.S60del InFrameDeletion 3/15 - 1
3-41266181-T-A c.178T>A p.S60T Missense 3/15 - 1
3-41266181-T-C c.178T>C p.S60P Missense 3/15 - 3
3-41266181-TC-GA c.178_179inv p.S60D Missense 3/15 - 2
3-41266181-T-G c.178T>G p.S60A Missense 3/15 - 2
3-41266182-CC-AA c.179_180delinsAA p.S60* Nonsense 3/15 - 1
3-41266182-C-G c.179C>G p.S60C Missense 3/15 - 2
3-41266182-C-T c.179C>T p.S60F Missense 3/15 - 4
3-41266183-C-T c.180C>T p.S60= Synonymous 3/15 - 2
3-41266184-C-A c.181C>A p.Q61K Missense 3/15 - 25
3-41266184-C-G c.181C>G p.Q61E Missense 3/15 - 1
3-41266184-C-T c.181C>T p.Q61* Nonsense 3/15 - 1
3-41266185-A-C c.182A>C p.Q61P Missense 3/15 - 2
3-41266185-A-G c.182A>G p.Q61R Missense 3/15 - 28
3-41266185-A-T c.182A>T p.Q61L Missense 3/15 - 30
3-41266184-CA-C c.183del p.V62Sfs*18 Frameshift 3/15 - 1
3-41266186-A-C c.183A>C p.Q61H Missense 3/15 - 17
3-41266186-A-T c.183A>T p.Q61H Missense 3/15 - 15
3-41266187-G-T c.184G>T p.V62F Missense 3/15 - 1
3-41266188-T-A c.185T>A p.V62D Missense 3/15 - 1
3-41266188-T-G c.185T>G p.V62G Missense 3/15 - 2
3-41266189-C-A c.186C>A p.V62= Synonymous 3/15 - 2
3-41266189-C-G c.186C>G p.V62= Synonymous 3/15 - 2
3-41266189-C-T c.186C>T p.V62= Synonymous 3/15 - 2
3-41266190-C-A c.187C>A p.L63M Missense 3/15 - 1
3-41266190-C-T c.187C>T p.L63= Synonymous 3/15 - 1
3-41266191-T-A c.188T>A p.L63Q Missense 3/15 - 1
3-41266191-T-C c.188T>C p.L63P Missense 3/15 - 1
3-41266191-T-G c.188T>G p.L63R Missense 3/15 - 2
3-41266193-GTAT-G c.190_192del p.Y64del InFrameDeletion 3/15 - 1
3-41266193-TA-AT c.190_191delinsAT p.Y64I Missense 3/15 - 1
3-41266193-TA-CC c.190_191delinsCC p.Y64P Missense 3/15 - 1
3-41266193-TA-GC c.190_191delinsGC p.Y64A Missense 3/15 - 1
3-41266193-TAT-GAG c.190_192delinsGAG p.Y64E Missense 3/15 - 1
3-41266194-A-C c.191A>C p.Y64S Missense 3/15 - 1
3-41266194-A-T c.191A>T p.Y64F Missense 3/15 - 2
3-41266196-G-A c.193G>A p.E65K Missense 3/15 - 1
3-41266197-A-G c.194A>G p.E65G Missense 3/15 - 2
3-41266199-T-G c.196T>G p.W66G Missense 3/15 - 1
3-41266200-G-A c.197G>A p.W66* Nonsense 3/15 - 2
3-41266200-G-T c.197G>T p.W66L Missense 3/15 - 3
3-41266201-G-A c.198G>A p.W66* Nonsense 3/15 - 5
3-41266202-G-A c.199G>A p.E67K Missense 3/15 - 6
3-41266202-G-C c.199G>C p.E67Q Missense 3/15 - 1
3-41266203-A-G c.200A>G p.E67G Missense 3/15 - 2
3-41266204-A-T c.201A>T p.E67D Missense 3/15 - 2
3-41266205-C-T c.202C>T p.Q68* Nonsense 3/15 - 1
3-41266206-A-C c.203A>C p.Q68P Missense 3/15 - 1
3-41266207-G-A c.204G>A p.Q68= Synonymous 3/15 - 1
3-41266209-G-A c.206G>A p.G69E Missense 3/15 - 1
3-41266209-G-C c.206G>C p.G69A Missense 3/15 - 1
3-41266209-G-T c.206G>T p.G69V Missense 3/15 - 1
3-41266211-T-A c.208T>A p.F70I Missense 3/15 - 1
3-41266211-T-C c.208T>C p.F70L Missense 3/15 - 2
3-41266211-T-G c.208T>G p.F70V Missense 3/15 - 1
3-41266213-T-A c.210T>A p.F70L Missense 3/15 - 2
3-41266213-T-G c.210T>G p.F70L Missense 3/15 - 2
3-41266212-T-G c.209T>G p.F70C Missense 3/15 - 1
3-41266213-T-C c.210T>C p.F70= Synonymous 3/15 - 1
3-41266214-T-A c.211T>A p.S71T Missense 3/15 - 1
3-41266214-TC-AA c.211_212delinsAA p.S71N Missense 3/15 - 1
3-41266214-TC-CT c.211_212delinsCT p.S71L Missense 3/15 - 1
3-41266217-C-G c.214C>G p.Q72E Missense 3/15 - 2
3-41266217-C-T c.214C>T p.Q72* Nonsense 3/15 - 2
3-41266217-TCA-T c.214_215del p.Q72Vfs*9 Frameshift 3/15 - 1
3-41266218-A-G c.215A>G p.Q72R Missense 3/15 - 3
3-41266218-A-T c.215A>T p.Q72L Missense 3/15 - 2
3-41266219-G-C c.216G>C p.Q72H Missense 3/15 - 3
3-41266219-G-T c.216G>T p.Q72H Missense 3/15 - 2
3-41266220-TC-CG c.217_218delinsCG p.S73R Missense 3/15 - 2
3-41266220-T-G c.217T>G p.S73A Missense 3/15 - 1
3-41266221-C-T c.218C>T p.S73F Missense 3/15 - 1
3-41266223-T-C c.220T>C p.F74L Missense 3/15 - 2
3-41266223-TT-GC c.220_221delinsGC p.F74A Missense 3/15 - 2
3-41266223-TT-GG c.220_221delinsGG p.F74G Missense 3/15 - 1
3-41266225-C-A c.222C>A p.F74L Missense 3/15 - 1
3-41266225-C-G c.222C>G p.F74L Missense 3/15 - 1
3-41266224-T-G c.221T>G p.F74C Missense 3/15 - 1
3-41266226-A-G c.223A>G p.T75A Missense 3/15 - 6
3-41266226-A-T c.223A>T p.T75S Missense 3/15 - 1
3-41266227-AC-A c.224del p.T75Ifs*5 Frameshift 3/15 - 1
3-41266227-C-T c.224C>T p.T75I Missense 3/15 - 5
3-41266227-CT-TG c.224_225delinsTG p.T75M Missense 3/15 - 1
3-41266228-T-A c.225T>A p.T75= Synonymous 3/15 - 2
3-41266228-T-C c.225T>C p.T75= Synonymous 3/15 - 2
3-41266228-T-G c.225T>G p.T75= Synonymous 3/15 - 2
3-41266229-C-G c.226C>G p.Q76E Missense 3/15 - 4
3-41266229-C-T c.226C>T p.Q76* Nonsense 3/15 - 4
3-41266230-A-C c.227A>C p.Q76P Missense 3/15 - 1
3-41266230-A-G c.227A>G p.Q76R Missense 3/15 - 1
3-41266232-G-A c.229G>A p.E77K Missense 3/15 - 3
3-41266232-G-T c.229G>T p.E77* Nonsense 3/15 - 3
3-41266234-A-C c.231A>C p.E77D Missense 3/15 - 1
3-41266234-A-T c.231A>T p.E77D Missense 3/15 - 1
3-41266235-C-T c.232C>T p.Q78* Nonsense 3/15 - 1
3-41266236-A-G c.233A>G p.Q78R Missense 3/15 - 1
3-41266238-G-A c.235G>A p.V79I Missense 3/15 - 2
3-41266238-G-T c.235G>T p.V79L Missense 3/15 - 1
3-41266238-GTA-TTT c.235_237delinsTTT p.V79F Missense 3/15 - 1
3-41266240-TAGC-T c.237_239del p.A80del InFrameDeletion 3/15 - 1
3-41266241-G-A c.238G>A p.A80T Missense 3/15 - 2
3-41266241-G-C c.238G>C p.A80P Missense 3/15 - 3
3-41266241-GCT-CAA c.238_240delinsCAA p.A80Q Missense 3/15 - 1
3-41266241-GC-TT c.238_239delinsTT p.A80F Missense 3/15 - 1
3-41266241-G-T c.238G>T p.A80S Missense 3/15 - 2
3-41266240-AGCT-A c.239_241del p.A80del InFrameDeletion 3/15 - 1
3-41266242-C-G c.239C>G p.A80G Missense 3/15 - 1
3-41266242-GCT-G c.239_240del p.A80Gfs*3 SpliceDonorDeletion 3/15 - 1
3-41266242-C-CT c.240dup p.D81* SpliceDonorInsertion 3/15 - 1
3-41266243-T-TA c.240_241insA p.D81Rfs*3 SpliceDonorInsertion 3/15 - 1
3-41266243-T-TC c.240_241insC p.D81Rfs*3 SpliceDonorInsertion 3/15 - 1
3-41266244-G-A c.241G>A p.D81N Missense 3/15 - 1
3-41266245-G-A c.241+1G>A - IntronicSNV - 3/14 1
3-41266249-G-C c.241+5G>C - IntronicSNV - 3/14 1
3-41266446-AT-A c.243del p.D81Efs*8 Frameshift 4/15 - 1
3-41266446-T-C c.243T>C p.D81= Synonymous 4/15 - 1
3-41266447-A-C c.244A>C p.I82L Missense 4/15 - 1
3-41266447-A-G c.244A>G p.I82V Missense 4/15 - 5
3-41266448-T-A c.245T>A p.I82N Missense 4/15 - 1
3-41266450-G-A c.247G>A p.D83N Missense 4/15 - 3
3-41266450-G-C c.247G>C p.D83H Missense 4/15 - 2
3-41266452-T-C c.249T>C p.D83= Synonymous 4/15 - 1
3-41266453-G-A c.250G>A p.G84R Missense 4/15 - 6
3-41266453-G-C c.250G>C p.G84R Missense 4/15 - 6
3-41266453-GGA-AGC c.250_252delinsAGC p.G84S Missense 4/15 - 2
3-41266454-G-A c.251G>A p.G84E Missense 4/15 - 1
3-41266455-A-C c.252A>C p.G84= Synonymous 4/15 - 2
3-41266455-A-G c.252A>G p.G84= Synonymous 4/15 - 1
3-41266455-A-T c.252A>T p.G84= Synonymous 4/15 - 1
3-41266456-C-T c.253C>T p.Q85* Nonsense 4/15 - 2
3-41266457-A-C c.254A>C p.Q85P Missense 4/15 - 1
3-41266457-A-T c.254A>T p.Q85L Missense 4/15 - 1
3-41266458-G-A c.255G>A p.Q85= Synonymous 4/15 - 1
3-41266458-G-C c.255G>C p.Q85H Missense 4/15 - 1
3-41266458-G-T c.255G>T p.Q85H Missense 4/15 - 1
3-41266459-TA-CC c.256_257delinsCC p.Y86P Missense 4/15 - 1
3-41266459-TA-GC c.256_257delinsGC p.Y86A Missense 4/15 - 1
3-41266459-TAT-GAG c.256_258delinsGAG p.Y86E Missense 4/15 - 1
3-41266459-T-C c.256T>C p.Y86H Missense 4/15 - 1
3-41266460-A-T c.257A>T p.Y86F Missense 4/15 - 5
3-41266462-GC-AA c.259_260delinsAA p.A87K Missense 4/15 - 1
3-41266462-GCA-CAT c.259_261delinsCAT p.A87H Missense 4/15 - 4
3-41266462-GCA-TGT c.259_261delinsTGT p.A87C Missense 4/15 - 1
3-41266463-C-A c.260C>A p.A87E Missense 4/15 - 1
3-41266463-CA-AC c.260_261delinsAC p.A87D Missense 4/15 - 2
3-41266464-A-C c.261A>C p.A87= Synonymous 4/15 - 1
3-41266464-A-G c.261A>G p.A87= Synonymous 4/15 - 1
3-41266464-A-T c.261A>T p.A87= Synonymous 4/15 - 1
3-41266465-A-G c.262A>G p.M88V Missense 4/15 - 1
3-41266466-T-A c.263T>A p.M88K Missense 4/15 - 1
3-41266465-ATGACTCGAGC-A c.264_273del p.M88Ifs*13 Frameshift 4/15 - 1
3-41266468-AC-GG c.265_266delinsGG p.T89G Missense 4/15 - 1
3-41266468-ACT-GAG c.265_267delinsGAG p.T89E Missense 4/15 - 1
3-41266469-C-T c.266C>T p.T89I Missense 4/15 - 1
3-41266471-CGA-ATG c.268_270delinsATG p.R90M Missense 4/15 - 1
3-41266471-C-T c.268C>T p.R90* Nonsense 4/15 - 6
3-41266472-G-A c.269G>A p.R90Q Missense 4/15 - 9
3-41266472-G-T c.269G>T p.R90L Missense 4/15 - 3
3-41266474-G-A c.271G>A p.A91T Missense 4/15 - 3
3-41266474-GC-AA c.271_272delinsAA p.A91N Missense 4/15 - 1
3-41266474-GC-TA c.271_272delinsTA p.A91Y Missense 4/15 - 1
3-41266474-GCT-AAG c.271_273delinsAAG p.A91K Missense 4/15 - 3
3-41266474-GCT-CAA c.271_273delinsCAA p.A91Q Missense 4/15 - 2
3-41266474-GC-TT c.271_272delinsTT p.A91F Missense 4/15 - 2
3-41266474-GCT-TAA c.271_273delinsTAA p.A91* Nonsense 4/15 - 1
3-41266474-GCT-TGG c.271_273delinsTGG p.A91W Missense 4/15 - 2
3-41266474-G-T c.271G>T p.A91S Missense 4/15 - 1
3-41266475-C-A c.272C>A p.A91D Missense 4/15 - 1
3-41266475-C-T c.272C>T p.A91V Missense 4/15 - 3
3-41266476-T-A c.273T>A p.A91= Synonymous 4/15 - 1
3-41266476-T-C c.273T>C p.A91= Synonymous 4/15 - 1
3-41266476-T-G c.273T>G p.A91= Synonymous 4/15 - 1
3-41266477-C-G c.274C>G p.Q92E Missense 4/15 - 1
3-41266477-C-T c.274C>T p.Q92* Nonsense 4/15 - 6
3-41266479-G-A c.276G>A p.Q92= Synonymous 4/15 - 3
3-41266480-AG-CA c.277_278delinsCA p.R93Q Missense 4/15 - 2
3-41266480-AGG-CAT c.277_279delinsCAT p.R93H Missense 4/15 - 1
3-41266480-A-T c.277A>T p.R93W Missense 4/15 - 2
3-41266481-G-A c.278G>A p.R93K Missense 4/15 - 1
3-41266481-G-T c.278G>T p.R93M Missense 4/15 - 2
3-41266480-A-C c.277A>C p.R93= Synonymous 4/15 - 1
3-41266482-G-A c.279G>A p.R93= Synonymous 4/15 - 1
3-41266482-G-C c.279G>C p.R93S Missense 4/15 - 2
3-41266482-G-T c.279G>T p.R93S Missense 4/15 - 2
3-41266483-G-A c.280G>A p.V94I Missense 4/15 - 4
3-41266483-G-C c.280G>C p.V94L Missense 4/15 - 1
3-41266484-T-A c.281T>A p.V94E Missense 4/15 - 3
3-41266484-TA-AC c.281_282delinsAC p.V94D Missense 4/15 - 1
3-41266484-T-C c.281T>C p.V94A Missense 4/15 - 1
3-41266486-C-A c.283C>A p.R95= Synonymous 4/15 - 3
3-41266486-CGA-TGT c.283_285delinsTGT p.R95C Missense 4/15 - 1
3-41266486-C-T c.283C>T p.R95* Nonsense 4/15 - 20
3-41266488-A-C c.285A>C p.R95= Synonymous 4/15 - 5
3-41266488-A-G c.285A>G p.R95= Synonymous 4/15 - 3
3-41266488-A-T c.285A>T p.R95= Synonymous 4/15 - 4
3-41266487-G-A c.284G>A p.R95Q Missense 4/15 - 2
3-41266486-CGAGCTGCTAT-C c.285_294del p.A96Sfs*5 Frameshift 4/15 - 2
3-41266489-G-A c.286G>A p.A96T Missense 4/15 - 1
3-41266489-G-C c.286G>C p.A96P Missense 4/15 - 1
3-41266490-C-G c.287C>G p.A96G Missense 4/15 - 2
3-41266490-C-T c.287C>T p.A96V Missense 4/15 - 1
3-41266491-T-A c.288T>A p.A96= Synonymous 4/15 - 1
3-41266491-T-C c.288T>C p.A96= Synonymous 4/15 - 1
3-41266491-T-G c.288T>G p.A96= Synonymous 4/15 - 1
3-41266492-G-A c.289G>A p.A97T Missense 4/15 - 1
3-41266492-G-C c.289G>C p.A97P Missense 4/15 - 2
3-41266492-GC-AT c.289_290delinsAT p.A97I Missense 4/15 - 2
3-41266492-GC-CA c.289_290delinsCA p.A97H Missense 4/15 - 2
3-41266492-GCT-AAG c.289_291delinsAAG p.A97K Missense 4/15 - 2
3-41266492-GCT-CAA c.289_291delinsCAA p.A97Q Missense 4/15 - 2
3-41266492-GC-TG c.289_290delinsTG p.A97C Missense 4/15 - 1
3-41266492-GC-TT c.289_290delinsTT p.A97F Missense 4/15 - 1
3-41266493-C-A c.290C>A p.A97D Missense 4/15 - 1
3-41266493-C-G c.290C>G p.A97G Missense 4/15 - 1
3-41266493-C-T c.290C>T p.A97V Missense 4/15 - 3
3-41266495-A-C c.292A>C p.M98L Missense 4/15 - 1
3-41266495-A-G c.292A>G p.M98V Missense 4/15 - 6
3-41266496-T-C c.293T>C p.M98T Missense 4/15 - 2
3-41266496-T-G c.293T>G p.M98R Missense 4/15 - 1
3-41266497-G-A c.294G>A p.M98I Missense 4/15 - 1
3-41266497-G-C c.294G>C p.M98I Missense 4/15 - 1
3-41266497-G-T c.294G>T p.M98I Missense 4/15 - 1
3-41266498-T-C c.295T>C p.F99L Missense 4/15 - 1
3-41266498-TT-GA c.295_296delinsGA p.F99D Missense 4/15 - 1
3-41266500-C-A c.297C>A p.F99L Missense 4/15 - 2
3-41266500-C-G c.297C>G p.F99L Missense 4/15 - 1
3-41266500-C-T c.297C>T p.F99= Synonymous 4/15 - 1
3-41266501-CCT-TAA c.298_300delinsTAA p.P100* Nonsense 4/15 - 1
3-41266502-C-A c.299C>A p.P100H Missense 4/15 - 2
3-41266502-CCT-C c.299_300del p.P100Rfs*5 Frameshift 4/15 - 1
3-41266502-C-T c.299C>T p.P100L Missense 4/15 - 4
3-41266505-A-C c.302A>C p.E101A Missense 4/15 - 2
3-41266506-G-C c.303G>C p.E101D Missense 4/15 - 1
3-41266506-G-T c.303G>T p.E101D Missense 4/15 - 1
3-41266507-ACA-TGT c.304_306inv p.T102C Missense 4/15 - 1
3-41266507-A-G c.304A>G p.T102A Missense 4/15 - 1
3-41266507-GA-G c.304del p.T102Hfs*2 Frameshift 4/15 - 1
3-41266508-C-T c.305C>T p.T102I Missense 4/15 - 2
3-41266510-TT-GC c.307_308delinsGC p.L103A Missense 4/15 - 1
3-41266513-G-A c.310G>A p.D104N Missense 4/15 - 3
3-41266515-T-A c.312T>A p.D104E Missense 4/15 - 1
3-41266515-T-G c.312T>G p.D104E Missense 4/15 - 1
3-41266516-G-A c.313G>A p.E105K Missense 4/15 - 3
3-41266516-G-T c.313G>T p.E105* Nonsense 4/15 - 2
3-41266518-G-C c.315G>C p.E105D Missense 4/15 - 1
3-41266518-G-T c.315G>T p.E105D Missense 4/15 - 1
3-41266519-G-A c.316G>A p.G106S Missense 4/15 - 2
3-41266519-G-C c.316G>C p.G106R Missense 4/15 - 1
3-41266519-G-T c.316G>T p.G106C Missense 4/15 - 2
3-41266520-G-A c.317G>A p.G106D Missense 4/15 - 2
3-41266520-GC-AG c.317_318delinsAG p.G106E Missense 4/15 - 2
3-41266520-G-T c.317G>T p.G106V Missense 4/15 - 1
3-41266522-A-G c.319A>G p.M107V Missense 4/15 - 1
3-41266523-T-C c.320T>C p.M107T Missense 4/15 - 2
3-41266524-G-A c.321G>A p.M107I Missense 4/15 - 1
3-41266524-G-C c.321G>C p.M107I Missense 4/15 - 1
3-41266524-G-T c.321G>T p.M107I Missense 4/15 - 1
3-41266527-G-A c.324G>A p.Q108= Synonymous 4/15 - 2
3-41266527-G-C c.324G>C p.Q108H Missense 4/15 - 1
3-41266527-G-T c.324G>T p.Q108H Missense 4/15 - 2
3-41266531-CCA-TGT c.328_330delinsTGT p.P110C Missense 4/15 - 1
3-41266531-CC-TA c.328_329delinsTA p.P110* Nonsense 4/15 - 2
3-41266531-C-G c.328C>G p.P110A Missense 4/15 - 12
3-41266531-C-T c.328C>T p.P110S Missense 4/15 - 1
3-41266533-A-T c.330A>T p.P110= Synonymous 4/15 - 1
3-41266534-T-C c.331T>C p.S111P Missense 4/15 - 1
3-41266537-A-C c.334A>C p.T112P Missense 4/15 - 1
3-41266537-AC-CA c.334_335delinsCA p.T112Q Missense 4/15 - 1
3-41266538-CA-AC c.335_336delinsAC p.T112N Missense 4/15 - 1
3-41266538-C-G c.335C>G p.T112R Missense 4/15 - 2
3-41266540-ACAGT-A c.337_340del p.Q113Lfs*19 Frameshift 4/15 - 1
3-41266540-C-T c.337C>T p.Q113* Nonsense 4/15 - 4
3-41266541-A-C c.338A>C p.Q113P Missense 4/15 - 1
3-41266542-G-T c.339G>T p.Q113H Missense 4/15 - 1
3-41266543-T-C c.340T>C p.F114L Missense 4/15 - 1
3-41266545-T-C c.342T>C p.F114= Synonymous 4/15 - 2
3-41266546-G-C c.343G>C p.D115H Missense 4/15 - 1
3-41266546-G-T c.343G>T p.D115Y Missense 4/15 - 1
3-41266549-G-A c.346G>A p.A116T Missense 4/15 - 1
3-41266550-C-T c.347C>T p.A116V Missense 4/15 - 2
3-41266551-T-A c.348T>A p.A116= Synonymous 4/15 - 1
3-41266551-T-C c.348T>C p.A116= Synonymous 4/15 - 1
3-41266551-T-G c.348T>G p.A116= Synonymous 4/15 - 1
3-41266552-G-A c.349G>A p.A117T Missense 4/15 - 3
3-41266553-C-A c.350C>A p.A117D Missense 4/15 - 1
3-41266553-C-T c.350C>T p.A117V Missense 4/15 - 1
3-41266554-T-A c.351T>A p.A117= Synonymous 4/15 - 1
3-41266554-T-C c.351T>C p.A117= Synonymous 4/15 - 1
3-41266554-T-G c.351T>G p.A117= Synonymous 4/15 - 1
3-41266555-C-G c.352C>G p.H118D Missense 4/15 - 1
3-41266555-C-T c.352C>T p.H118Y Missense 4/15 - 5
3-41266556-A-T c.353A>T p.H118L Missense 4/15 - 1
3-41266557-T-C c.354T>C p.H118= Synonymous 4/15 - 3
3-41266558-C-G c.355C>G p.P119A Missense 4/15 - 1
3-41266559-C-T c.356C>T p.P119L Missense 4/15 - 1
3-41266557-T-TC c.357dup p.T120Hfs*2 Frameshift 4/15 - 1
3-41266560-C-A c.357C>A p.P119= Synonymous 4/15 - 2
3-41266560-C-G c.357C>G p.P119= Synonymous 4/15 - 2
3-41266560-C-T c.357C>T p.P119= Synonymous 4/15 - 4
3-41266561-A-C c.358A>C p.T120P Missense 4/15 - 1
3-41266561-A-G c.358A>G p.T120A Missense 4/15 - 1
3-41266560-CACTA-C c.359_362del p.T120Mfs*12 Frameshift 4/15 - 1
3-41266562-C-T c.359C>T p.T120I Missense 4/15 - 1
3-41266565-A-G c.362A>G p.N121S Missense 4/15 - 1
3-41266565-A-T c.362A>T p.N121I Missense 4/15 - 1
3-41266566-T-A c.363T>A p.N121K Missense 4/15 - 1
3-41266569-C-A c.366C>A p.V122= Synonymous 4/15 - 1
3-41266569-C-G c.366C>G p.V122= Synonymous 4/15 - 1
3-41266569-C-T c.366C>T p.V122= Synonymous 4/15 - 1
3-41266570-CA-GC c.367_368delinsGC p.Q123A Missense 4/15 - 1
3-41266570-C-T c.367C>T p.Q123* Nonsense 4/15 - 3
3-41266571-A-T c.368A>T p.Q123L Missense 4/15 - 1
3-41266572-G-A c.369G>A p.Q123= Synonymous 4/15 - 2
3-41266572-G-C c.369G>C p.Q123H Missense 4/15 - 6
3-41266572-G-T c.369G>T p.Q123H Missense 4/15 - 6
3-41266573-C-T c.370C>T p.R124C Missense 4/15 - 6
3-41266574-G-A c.371G>A p.R124H Missense 4/15 - 4
3-41266574-G-C c.371G>C p.R124P Missense 4/15 - 1
3-41266574-G-T c.371G>T p.R124L Missense 4/15 - 1
3-41266576-T-G c.373T>G p.L125V Missense 4/15 - 2
3-41266576-TT-CC c.373_374delinsCC p.L125P Missense 4/15 - 2
3-41266577-T-C c.374T>C p.L125S Missense 4/15 - 1
3-41266578-G-A c.375G>A p.L125= Synonymous 4/15 - 2
3-41266579-G-A c.376G>A p.A126T Missense 4/15 - 2
3-41266579-G-T c.376G>T p.A126S Missense 4/15 - 1
3-41266581-T-A c.378T>A p.A126= Synonymous 4/15 - 1
3-41266581-T-C c.378T>C p.A126= Synonymous 4/15 - 1
3-41266581-T-G c.378T>G p.A126= Synonymous 4/15 - 1
3-41266582-G-A c.379G>A p.E127K Missense 4/15 - 4
3-41266583-A-G c.380A>G p.E127G Missense 4/15 - 1
3-41266584-A-T c.381A>T p.E127D Missense 4/15 - 1
3-41266585-C-A c.382C>A p.P128T Missense 4/15 - 2
3-41266586-C-T c.383C>T p.P128L Missense 4/15 - 1
3-41266589-C-A c.386C>A p.S129* Nonsense 4/15 - 1
3-41266589-C-G c.386C>G p.S129* Nonsense 4/15 - 1
3-41266589-C-T c.386C>T p.S129L Missense 4/15 - 1
3-41266590-A-C c.387A>C p.S129= Synonymous 4/15 - 2
3-41266590-A-G c.387A>G p.S129= Synonymous 4/15 - 2
3-41266590-A-T c.387A>T p.S129= Synonymous 4/15 - 2
3-41266591-C-G c.388C>G p.Q130E Missense 4/15 - 2
3-41266592-A-G c.389A>G p.Q130R Missense 4/15 - 1
3-41266593-G-A c.390G>A p.Q130= Synonymous 4/15 - 8
3-41266597-C-A c.394C>A p.L132M Missense 4/15 - 1
3-41266597-CTG-ATC c.394_396delinsATC p.L132I Missense 4/15 - 1
3-41266597-CT-GC c.394_395delinsGC p.L132A Missense 4/15 - 1
3-41266597-C-T c.394C>T p.L132= Synonymous 4/15 - 6
3-41266599-G-A c.396G>A p.L132= Synonymous 4/15 - 5
3-41266599-G-C c.396G>C p.L132= Synonymous 4/15 - 3
3-41266599-G-T c.396G>T p.L132= Synonymous 4/15 - 3
3-41266600-AA-GC c.397_398delinsGC p.K133A Missense 4/15 - 1
3-41266600-A-T c.397A>T p.K133* Nonsense 4/15 - 1
3-41266601-A-G c.398A>G p.K133R Missense 4/15 - 1
3-41266602-A-C c.399A>C p.K133N Missense 4/15 - 1
3-41266602-A-G c.399A>G p.K133= Synonymous 4/15 - 1
3-41266602-A-T c.399A>T p.K133N Missense 4/15 - 1
3-41266604-A-G c.401A>G p.H134R Missense 4/15 - 1
3-41266605-AT-A c.402del p.H134Qfs*4 Frameshift 4/15 - 1
3-41266606-G-A c.403G>A p.A135T Missense 4/15 - 1
3-41266607-C-A c.404C>A p.A135E Missense 4/15 - 1
3-41266607-C-T c.404C>T p.A135V Missense 4/15 - 7
3-41266609-G-A c.406G>A p.V136I Missense 4/15 - 1
3-41266610-T-C c.407T>C p.V136A Missense 4/15 - 4
3-41266609-GT-G c.408del p.V137* Frameshift 4/15 - 1
3-41266615-A-C c.412A>C p.N138H Missense 4/15 - 1
3-41266615-A-G c.412A>G p.N138D Missense 4/15 - 1
3-41266616-A-C c.413A>C p.N138T Missense 4/15 - 1
3-41266616-A-G c.413A>G p.N138S Missense 4/15 - 1
3-41266617-CTTGA-C c.417_420del p.I140Tfs*16 Frameshift 4/15 - 1
3-41266620-G-C c.417G>C p.L139F Missense 4/15 - 3
3-41266620-G-T c.417G>T p.L139F Missense 4/15 - 2
3-41266620-GATTA-G c.419_422del p.I140Tfs*16 Frameshift 4/15 - 1
3-41266622-T-A c.419T>A p.I140N Missense 4/15 - 2
3-41266622-T-C c.419T>C p.I140T Missense 4/15 - 4
3-41266623-T-A c.420T>A p.I140= Synonymous 4/15 - 1
3-41266623-T-C c.420T>C p.I140= Synonymous 4/15 - 1
3-41266623-T-G c.420T>G p.I140M Missense 4/15 - 1
3-41266625-A-G c.422A>G p.N141S Missense 4/15 - 1
3-41266626-C-A c.423C>A p.N141K Missense 4/15 - 1
3-41266626-C-CG c.423_424insG p.Y142Vfs*4 Frameshift 4/15 - 1
3-41266627-CTAT-C c.424_426del p.Y142del InFrameDeletion 4/15 - 1
3-41266627-TA-CC c.424_425delinsCC p.Y142P Missense 4/15 - 1
3-41266627-TA-GC c.424_425delinsGC p.Y142A Missense 4/15 - 3
3-41266627-TAT-GAG c.424_426delinsGAG p.Y142E Missense 4/15 - 7
3-41266627-T-C c.424T>C p.Y142H Missense 4/15 - 1
3-41266628-A-T c.425A>T p.Y142F Missense 4/15 - 6
3-41266629-T-C c.426T>C p.Y142= Synonymous 4/15 - 2
3-41266630-C-G c.427C>G p.Q143E Missense 4/15 - 1
3-41266630-C-T c.427C>T p.Q143* Nonsense 4/15 - 1
3-41266630-CA-C c.429del p.D144Mfs*13 Frameshift 4/15 - 3
3-41266632-A-C c.429A>C p.Q143H Missense 4/15 - 2
3-41266632-A-T c.429A>T p.Q143H Missense 4/15 - 2
3-41266633-G-A c.430G>A p.D144N Missense 4/15 - 1
3-41266634-A-C c.431A>C p.D144A Missense 4/15 - 1
3-41266635-T-A c.432T>A p.D144E Missense 4/15 - 1
3-41266635-T-G c.432T>G p.D144E Missense 4/15 - 2
3-41266636-G-A c.433G>A p.D145N Missense 4/15 - 1
3-41266637-A-C c.434A>C p.D145A Missense 4/15 - 1
3-41266638-T-A c.435T>A p.D145E Missense 4/15 - 1
3-41266638-T-G c.435T>G p.D145E Missense 4/15 - 1
3-41266639-G-A c.436G>A p.A146T Missense 4/15 - 8
3-41266640-C-T c.437C>T p.A146V Missense 4/15 - 1
3-41266640-GCAGAACTT-G c.437_444del p.A146Gfs*7 Frameshift 4/15 - 1
3-41266642-G-A c.439G>A p.E147K Missense 4/15 - 2
3-41266643-A-G c.440A>G p.E147G Missense 4/15 - 1
3-41266643-A-T c.440A>T p.E147V Missense 4/15 - 1
3-41266646-CTTGCCACA-C c.443_450del p.L148Pfs*5 Frameshift 4/15 - 1
3-41266646-T-A c.443T>A p.L148H Missense 4/15 - 1
3-41266646-T-C c.443T>C p.L148P Missense 4/15 - 1
3-41266647-T-A c.444T>A p.L148= Synonymous 4/15 - 1
3-41266647-T-C c.444T>C p.L148= Synonymous 4/15 - 1
3-41266647-T-G c.444T>G p.L148= Synonymous 4/15 - 1
3-41266648-G-A c.445G>A p.A149T Missense 4/15 - 2
3-41266648-G-C c.445G>C p.A149P Missense 4/15 - 1
3-41266649-C-A c.446C>A p.A149D Missense 4/15 - 2
3-41266649-C-T c.446C>T p.A149V Missense 4/15 - 1
3-41266651-A-C c.448A>C p.T150P Missense 4/15 - 1
3-41266651-A-G c.448A>G p.T150A Missense 4/15 - 2
3-41266652-C-A c.449C>A p.T150K Missense 4/15 - 1
3-41266654-C-CAA c.451_452insAA p.R151Qfs*7 Frameshift 4/15 - 1
3-41266654-C-G c.451C>G p.R151G Missense 4/15 - 2
3-41266654-C-T c.451C>T p.R151C Missense 4/15 - 9
3-41266655-G-A c.452G>A p.R151H Missense 4/15 - 8
3-41266657-G-A c.454G>A p.A152T Missense 4/15 - 3
3-41266657-G-C c.454G>C p.A152P Missense 4/15 - 1
3-41266657-G-T c.454G>T p.A152S Missense 4/15 - 1
3-41266658-C-A c.455C>A p.A152E Missense 4/15 - 1
3-41266658-C-G c.455C>G p.A152G Missense 4/15 - 4
3-41266660-A-G c.457A>G p.I153V Missense 4/15 - 1
3-41266661-T-C c.458T>C p.I153T Missense 4/15 - 1
3-41266661-T-G c.458T>G p.I153S Missense 4/15 - 1
3-41266663-C-G c.460C>G p.P154A Missense 4/15 - 2
3-41266663-C-T c.460C>T p.P154S Missense 4/15 - 1
3-41266664-C-G c.461C>G p.P154R Missense 4/15 - 1
3-41266664-C-T c.461C>T p.P154L Missense 4/15 - 3
3-41266666-G-A c.463G>A p.E155K Missense 4/15 - 3
3-41266666-G-T c.463G>T p.E155* Nonsense 4/15 - 1
3-41266667-A-C c.464A>C p.E155A Missense 4/15 - 1
3-41266667-A-T c.464A>T p.E155V Missense 4/15 - 2
3-41266669-CT-GC c.466_467delinsGC p.L156A Missense 4/15 - 2
3-41266669-CT-TC c.466_467delinsTC p.L156S Missense 4/15 - 1
3-41266670-T-A c.467T>A p.L156Q Missense 4/15 - 1
3-41266670-T-C c.467T>C p.L156P Missense 4/15 - 3
3-41266669-C-T c.466C>T p.L156= Synonymous 4/15 - 2
3-41266670-T-TG c.468dup p.T157Dfs*6 Frameshift 4/15 - 1
3-41266671-G-A c.468G>A p.L156= Synonymous 4/15 - 2
3-41266671-G-C c.468G>C p.L156= Synonymous 4/15 - 5
3-41266671-G-T c.468G>T p.L156= Synonymous 4/15 - 2
3-41266672-A-G c.469A>G p.T157A Missense 4/15 - 1
3-41266673-CA-TG c.470_471inv p.T157M Missense 4/15 - 1
3-41266673-C-T c.470C>T p.T157I Missense 4/15 - 1
3-41266675-A-G c.472A>G p.K158E Missense 4/15 - 1
3-41266676-A-G c.473A>G p.K158R Missense 4/15 - 1
3-41266677-A-C c.474A>C p.K158N Missense 4/15 - 1
3-41266677-A-G c.474A>G p.K158= Synonymous 4/15 - 1
3-41266677-A-T c.474A>T p.K158N Missense 4/15 - 1
3-41266678-C-T c.475C>T p.L159= Synonymous 4/15 - 3
3-41266679-T-C c.476T>C p.L159P Missense 4/15 - 4
3-41266679-T-TGATGATGCAAAACCTTCCTCATGTACAAAGCCTTAACTAAAA c.477_478insATGATGCAAAACCTTCCTCATGTACAAAGCCTTAACTAAAAG p.L159_L160insMMQNLPHVQSLN* InFrameInsertion 4/15 - 1
3-41266680-G-A c.477G>A p.L159= Synonymous 4/15 - 1
3-41266680-G-C c.477G>C p.L159= Synonymous 4/15 - 1
3-41266680-G-T c.477G>T p.L159= Synonymous 4/15 - 1
3-41266681-C-A c.478C>A p.L160I Missense 4/15 - 2
3-41266682-T-C c.479T>C p.L160P Missense 4/15 - 1
3-41266683-A-G c.480A>G p.L160= Synonymous 4/15 - 1
3-41266684-A-C c.481A>C p.N161H Missense 4/15 - 1
3-41266684-A-G c.481A>G p.N161D Missense 4/15 - 1
3-41266685-A-T c.482A>T p.N161I Missense 4/15 - 1
3-41266686-T-C c.483T>C p.N161= Synonymous 4/15 - 1
3-41266687-G-A c.484G>A p.D162N Missense 4/15 - 1
3-41266688-A-C c.485A>C p.D162A Missense 4/15 - 1
3-41266688-A-G c.485A>G p.D162G Missense 4/15 - 2
3-41266688-A-T c.485A>T p.D162V Missense 4/15 - 1
3-41266689-C-A c.486C>A p.D162E Missense 4/15 - 5
3-41266689-C-G c.486C>G p.D162E Missense 4/15 - 3
3-41266689-C-T c.486C>T p.D162= Synonymous 4/15 - 5
3-41266690-G-A c.487G>A p.E163K Missense 4/15 - 1
3-41266691-A-T c.488A>T p.E163V Missense 4/15 - 1
3-41266692-G-C c.489G>C p.E163D Missense 4/15 - 1
3-41266692-G-T c.489G>T p.E163D Missense 4/15 - 1
3-41266693-G-A c.490G>A p.D164N Missense 4/15 - 4
3-41266693-G-T c.490G>T p.D164Y Missense 4/15 - 1
3-41266694-A-C c.491A>C p.D164A Missense 4/15 - 10
3-41266696-CCAG-C c.493_495del p.Q165del InFrameDeletion 4/15 - 1
3-41266696-C-T c.493C>T p.Q165* Nonsense 4/15 - 2
3-41266697-A-G c.494A>G p.Q165R Missense 4/15 - 1
3-41266698-G-C c.495G>C p.Q165H Missense 4/15 - 5
3-41266698-G-T c.495G>T p.Q165H Missense 4/15 - 6
3-41266699-G-C c.495+1G>C - IntronicSNV - 4/14 1
3-41266750-G-A c.495+52G>A - IntronicSNV - 4/14 1
3-41266825-G-A c.496G>A p.V166M Missense 5/15 - 4
3-41266825-G-C c.496G>C p.V166L Missense 5/15 - 1
3-41266825-G-T c.496G>T p.V166L Missense 5/15 - 1
3-41266825-GTG-ATC c.496_498delinsATC p.V166I Missense 5/15 - 1
3-41266826-T-G c.497T>G p.V166G Missense 5/15 - 5
3-41266828-G-A c.499G>A p.V167M Missense 5/15 - 1
3-41266828-GTG-TTT c.499_501delinsTTT p.V167F Missense 5/15 - 1
3-41266829-T-C c.500T>C p.V167A Missense 5/15 - 1
3-41266831-G-A c.502G>A p.V168I Missense 5/15 - 1
3-41266832-T-C c.503T>C p.V168A Missense 5/15 - 1
3-41266833-T-C c.504T>C p.V168= Synonymous 5/15 - 1
3-41266835-A-G c.506A>G p.N169S Missense 5/15 - 1
3-41266837-A-T c.508A>T p.K170* Nonsense 5/15 - 1
3-41266838-A-T c.509A>T p.K170M Missense 5/15 - 9
3-41266839-G-A c.510G>A p.K170= Synonymous 5/15 - 2
3-41266839-G-C c.510G>C p.K170N Missense 5/15 - 1
3-41266839-G-T c.510G>T p.K170N Missense 5/15 - 1
3-41266840-G-A c.511G>A p.A171T Missense 5/15 - 2
3-41266842-CT-C c.513del p.A172Qfs*37 Frameshift 5/15 - 1
3-41266843-G-A c.514G>A p.A172T Missense 5/15 - 1
3-41266843-GC-AG c.514_515delinsAG p.A172R Missense 5/15 - 1
3-41266844-C-G c.515C>G p.A172G Missense 5/15 - 1
3-41266845-A-T c.516A>T p.A172= Synonymous 5/15 - 1
3-41266846-G-T c.517G>T p.V173F Missense 5/15 - 1
3-41266846-GTT-ATG c.517_519delinsATG p.V173M Missense 5/15 - 1
3-41266847-T-G c.518T>G p.V173G Missense 5/15 - 1
3-41266849-A-G c.520A>G p.M174V Missense 5/15 - 3
3-41266850-AT-A c.521del p.M174Rfs*35 Frameshift 5/15 - 1
3-41266850-T-C c.521T>C p.M174T Missense 5/15 - 2
3-41266852-G-A c.523G>A p.V175I Missense 5/15 - 2
3-41266852-G-T c.523G>T p.V175F Missense 5/15 - 3
3-41266853-T-A c.524T>A p.V175D Missense 5/15 - 1
3-41266855-C-T c.526C>T p.H176Y Missense 5/15 - 2
3-41266857-T-C c.528T>C p.H176= Synonymous 5/15 - 1
3-41266858-C-G c.529C>G p.Q177E Missense 5/15 - 1
3-41266858-C-T c.529C>T p.Q177* Nonsense 5/15 - 1
3-41266859-A-C c.530A>C p.Q177P Missense 5/15 - 6
3-41266859-A-G c.530A>G p.Q177R Missense 5/15 - 4
3-41266860-G-A c.531G>A p.Q177= Synonymous 5/15 - 2
3-41266860-G-C c.531G>C p.Q177H Missense 5/15 - 1
3-41266860-G-T c.531G>T p.Q177H Missense 5/15 - 2
3-41266862-T-A c.533T>A p.L178H Missense 5/15 - 1
3-41266864-TC-CT c.535_536delinsCT p.S179L Missense 5/15 - 1
3-41266866-T-A c.537T>A p.S179= Synonymous 5/15 - 2
3-41266866-T-C c.537T>C p.S179= Synonymous 5/15 - 2
3-41266866-T-G c.537T>G p.S179= Synonymous 5/15 - 1
3-41266867-A-G c.538A>G p.K180E Missense 5/15 - 2
3-41266868-AA-G c.539_540delinsG p.K180Rfs*29 Frameshift 5/15 - 1
3-41266869-A-AT c.540_541insT p.K181* Nonsense 5/15 - 1
3-41266869-A-G c.540A>G p.K180= Synonymous 5/15 - 1
3-41266866-TA-T c.542del p.K181Rfs*28 Frameshift 5/15 - 3
3-41266872-G-GT c.543_544insT p.E182* Nonsense 5/15 - 1
3-41266873-G-A c.544G>A p.E182K Missense 5/15 - 1
3-41266873-G-T c.544G>T p.E182* Nonsense 5/15 - 1
3-41266876-G-A c.547G>A p.A183T Missense 5/15 - 2
3-41266876-GC-TA c.547_548delinsTA p.A183Y Missense 5/15 - 1
3-41266876-G-T c.547G>T p.A183S Missense 5/15 - 2
3-41266877-C-G c.548C>G p.A183G Missense 5/15 - 1
3-41266877-C-T c.548C>T p.A183V Missense 5/15 - 1
3-41266879-TC-AT c.550_551delinsAT p.S184I Missense 5/15 - 1
3-41266880-C-T c.551C>T p.S184F Missense 5/15 - 1
3-41266881-C-A c.552C>A p.S184= Synonymous 5/15 - 1
3-41266881-C-G c.552C>G p.S184= Synonymous 5/15 - 1
3-41266881-C-T c.552C>T p.S184= Synonymous 5/15 - 1
3-41266882-A-G c.553A>G p.R185G Missense 5/15 - 5
3-41266882-AG-CA c.553_554delinsCA p.R185Q Missense 5/15 - 2
3-41266883-G-A c.554G>A p.R185K Missense 5/15 - 1
3-41266882-A-C c.553A>C p.R185= Synonymous 5/15 - 4
3-41266884-A-C c.555A>C p.R185S Missense 5/15 - 2
3-41266884-A-G c.555A>G p.R185= Synonymous 5/15 - 4
3-41266885-CA-GC c.556_557delinsGC p.H186A Missense 5/15 - 1
3-41266886-A-T c.557A>T p.H186L Missense 5/15 - 2
3-41266887-C-T c.558C>T p.H186= Synonymous 5/15 - 3
3-41266888-G-A c.559G>A p.A187T Missense 5/15 - 5
3-41266888-G-T c.559G>T p.A187S Missense 5/15 - 1
3-41266889-C-T c.560C>T p.A187V Missense 5/15 - 1
3-41266891-A-G c.562A>G p.I188V Missense 5/15 - 3
3-41266893-C-A c.564C>A p.I188= Synonymous 5/15 - 1
3-41266893-C-G c.564C>G p.I188M Missense 5/15 - 1
3-41266893-C-T c.564C>T p.I188= Synonymous 5/15 - 5
3-41266894-A-C c.565A>C p.M189L Missense 5/15 - 1
3-41266894-A-G c.565A>G p.M189V Missense 5/15 - 1
3-41266894-A-T c.565A>T p.M189L Missense 5/15 - 1
3-41266895-T-C c.566T>C p.M189T Missense 5/15 - 1
3-41266897-CGT-AAG c.568_570delinsAAG p.R190K Missense 5/15 - 1
3-41266897-CGT-TGA c.568_570delinsTGA p.R190* Nonsense 5/15 - 1
3-41266897-C-T c.568C>T p.R190C Missense 5/15 - 7
3-41266898-G-A c.569G>A p.R190H Missense 5/15 - 11
3-41266900-T-C c.571T>C p.S191P Missense 5/15 - 1
3-41266900-TC-AA c.571_572delinsAA p.S191N Missense 5/15 - 1
3-41266900-TC-GA c.571_572inv p.S191D Missense 5/15 - 1
3-41266900-T-G c.571T>G p.S191A Missense 5/15 - 4
3-41266901-C-T c.572C>T p.S191F Missense 5/15 - 4
3-41266902-T-A c.573T>A p.S191= Synonymous 5/15 - 1
3-41266902-T-C c.573T>C p.S191= Synonymous 5/15 - 2
3-41266902-T-G c.573T>G p.S191= Synonymous 5/15 - 1
3-41266903-C-A c.574C>A p.P192T Missense 5/15 - 1
3-41266903-C-T c.574C>T p.P192S Missense 5/15 - 4
3-41266904-C-T c.575C>T p.P192L Missense 5/15 - 1
3-41266906-C-T c.577C>T p.Q193* Nonsense 5/15 - 2
3-41266909-A-C c.580A>C p.M194L Missense 5/15 - 1
3-41266909-A-G c.580A>G p.M194V Missense 5/15 - 1
3-41266909-A-T c.580A>T p.M194L Missense 5/15 - 1
3-41266910-T-A c.581T>A p.M194K Missense 5/15 - 2
3-41266912-G-C c.583G>C p.V195L Missense 5/15 - 2
3-41266912-GTG-TTT c.583_585delinsTTT p.V195F Missense 5/15 - 1
3-41266914-G-A c.585G>A p.V195= Synonymous 5/15 - 2
3-41266915-T-A c.586T>A p.S196T Missense 5/15 - 1
3-41266915-T-G c.586T>G p.S196A Missense 5/15 - 2
3-41266916-C-A c.587C>A p.S196Y Missense 5/15 - 1
3-41266916-C-T c.587C>T p.S196F Missense 5/15 - 1
3-41266917-T-A c.588T>A p.S196= Synonymous 5/15 - 1
3-41266917-T-C c.588T>C p.S196= Synonymous 5/15 - 1
3-41266917-T-G c.588T>G p.S196= Synonymous 5/15 - 1
3-41266918-G-T c.589G>T p.A197S Missense 5/15 - 6
3-41266919-C-A c.590C>A p.A197D Missense 5/15 - 2
3-41266919-C-T c.590C>T p.A197V Missense 5/15 - 2
3-41266921-A-C c.592A>C p.I198L Missense 5/15 - 3
3-41266921-A-G c.592A>G p.I198V Missense 5/15 - 1
3-41266921-A-T c.592A>T p.I198F Missense 5/15 - 1
3-41266922-T-C c.593T>C p.I198T Missense 5/15 - 5
3-41266923-T-G c.594T>G p.I198M Missense 5/15 - 1
3-41266923-T-TG c.595dup p.V199Gfs*9 Frameshift 5/15 - 1
3-41266924-G-A c.595G>A p.V199I Missense 5/15 - 7
3-41266924-G-C c.595G>C p.V199L Missense 5/15 - 1
3-41266924-G-T c.595G>T p.V199L Missense 5/15 - 1
3-41266927-C-G c.598C>G p.R200G Missense 5/15 - 1
3-41266927-CGT-TGG c.598_600delinsTGG p.R200W Missense 5/15 - 3
3-41266927-C-T c.598C>T p.R200C Missense 5/15 - 5
3-41266928-G-A c.599G>A p.R200H Missense 5/15 - 5
3-41266930-A-G c.601A>G p.T201A Missense 5/15 - 1
3-41266933-A-G c.604A>G p.M202V Missense 5/15 - 3
3-41266934-T-C c.605T>C p.M202T Missense 5/15 - 1
3-41266936-C-T c.607C>T p.Q203* Nonsense 5/15 - 7
3-41266938-G-A c.609G>A p.Q203= Synonymous 5/15 - 1
3-41266938-G-C c.609G>C p.Q203H Missense 5/15 - 2
3-41266938-G-T c.609G>T p.Q203H Missense 5/15 - 2
3-41266940-A-G c.611A>G p.N204S Missense 5/15 - 1
3-41266940-A-T c.611A>T p.N204I Missense 5/15 - 1
3-41266943-C-G c.614C>G p.T205R Missense 5/15 - 1
3-41266943-C-T c.614C>T p.T205I Missense 5/15 - 1
3-41266945-A-T c.616A>T p.N206Y Missense 5/15 - 1
3-41266946-A-G c.617A>G p.N206S Missense 5/15 - 1
3-41266949-A-G c.620A>G p.D207G Missense 5/15 - 5
3-41266951-G-A c.622G>A p.V208I Missense 5/15 - 2
3-41266951-G-C c.622G>C p.V208L Missense 5/15 - 1
3-41266951-G-T c.622G>T p.V208L Missense 5/15 - 1
3-41266952-T-A c.623T>A p.V208E Missense 5/15 - 2
3-41266954-G-A c.625G>A p.E209K Missense 5/15 - 1
3-41266954-G-C c.625G>C p.E209Q Missense 5/15 - 1
3-41266954-G-T c.625G>T p.E209* Nonsense 5/15 - 3
3-41266955-A-G c.626A>G p.E209G Missense 5/15 - 2
3-41266957-A-C c.628A>C p.T210P Missense 5/15 - 1
3-41266957-ACA-GAC c.628_630delinsGAC p.T210D Missense 5/15 - 2
3-41266959-A-C c.630A>C p.T210= Synonymous 5/15 - 1
3-41266959-A-G c.630A>G p.T210= Synonymous 5/15 - 1
3-41266959-A-T c.630A>T p.T210= Synonymous 5/15 - 1
3-41266959-CA-C c.630del p.A211Lfs*31 Frameshift 5/15 - 1
3-41266962-T-C c.633T>C p.A211= Synonymous 5/15 - 1
3-41266963-CGT-AAG c.634_636delinsAAG p.R212K Missense 5/15 - 1
3-41266963-CGT-TGG c.634_636delinsTGG p.R212W Missense 5/15 - 1
3-41266963-C-T c.634C>T p.R212C Missense 5/15 - 5
3-41266964-G-A c.635G>A p.R212H Missense 5/15 - 5
3-41266964-G-C c.635G>C p.R212P Missense 5/15 - 1
3-41266966-T-A c.637T>A p.C213S Missense 5/15 - 2
3-41266967-G-C c.638G>C p.C213S Missense 5/15 - 1
3-41266967-G-T c.638G>T p.C213F Missense 5/15 - 8
3-41266968-T-G c.639T>G p.C213W Missense 5/15 - 1
3-41266969-A-C c.640A>C p.T214P Missense 5/15 - 1
3-41266969-AC-GG c.640_641delinsGG p.T214G Missense 5/15 - 1
3-41266969-A-G c.640A>G p.T214A Missense 5/15 - 2
3-41266969-A-T c.640A>T p.T214S Missense 5/15 - 1
3-41266969-AC-A c.642del p.A215Lfs*27 Frameshift 5/15 - 1
3-41266971-C-G c.642C>G p.T214= Synonymous 5/15 - 1
3-41266971-C-T c.642C>T p.T214= Synonymous 5/15 - 2
3-41266972-G-A c.643G>A p.A215T Missense 5/15 - 13
3-41266973-C-T c.644C>T p.A215V Missense 5/15 - 1
3-41266974-T-A c.645T>A p.A215= Synonymous 5/15 - 2
3-41266974-T-C c.645T>C p.A215= Synonymous 5/15 - 2
3-41266974-T-G c.645T>G p.A215= Synonymous 5/15 - 2
3-41266972-GCTGGGAC-G c.646_652del p.G216Cfs*24 Frameshift 5/15 - 1
3-41266973-CTGGGACCTTGCATAACCTTTCCCATCATCG-C c.647_676del p.G216_R225del InFrameDeletion 5/15 - 1
3-41266976-G-A c.647G>A p.G216E Missense 5/15 - 1
3-41266974-TG-T c.648del p.T217Pfs*25 Frameshift 5/15 - 1
3-41266978-A-T c.649A>T p.T217S Missense 5/15 - 1
3-41266979-C-G c.650C>G p.T217S Missense 5/15 - 1
3-41266980-C-A c.651C>A p.T217= Synonymous 5/15 - 3
3-41266980-C-G c.651C>G p.T217= Synonymous 5/15 - 3
3-41266980-C-T c.651C>T p.T217= Synonymous 5/15 - 4
3-41266981-T-G c.652T>G p.L218V Missense 5/15 - 1
3-41266983-G-C c.654G>C p.L218F Missense 5/15 - 1
3-41266983-G-T c.654G>T p.L218F Missense 5/15 - 1
3-41266984-C-G c.655C>G p.H219D Missense 5/15 - 1
3-41266984-C-T c.655C>T p.H219Y Missense 5/15 - 1
3-41266987-A-G c.658A>G p.N220D Missense 5/15 - 1
3-41266988-A-G c.659A>G p.N220S Missense 5/15 - 1
3-41266990-C-G c.661C>G p.L221V Missense 5/15 - 1
3-41266990-C-T c.661C>T p.L221F Missense 5/15 - 2
3-41266990-CT-C c.664del p.S222Pfs*20 Frameshift 5/15 - 1
3-41266994-C-T c.665C>T p.S222F Missense 5/15 - 2
3-41266995-C-A c.666C>A p.S222= Synonymous 5/15 - 1
3-41266995-C-G c.666C>G p.S222= Synonymous 5/15 - 1
3-41266995-C-T c.666C>T p.S222= Synonymous 5/15 - 1
3-41266993-TC-T c.667del p.H223Ifs*19 Frameshift 5/15 - 3
3-41266996-CA-TT c.667_668delinsTT p.H223F Missense 5/15 - 1
3-41266996-C-T c.667C>T p.H223Y Missense 5/15 - 1
3-41266998-T-A c.669T>A p.H223Q Missense 5/15 - 1
3-41266998-T-C c.669T>C p.H223= Synonymous 5/15 - 1
3-41266998-T-G c.669T>G p.H223Q Missense 5/15 - 1
3-41266999-CAT-AAG c.670_672delinsAAG p.H224K Missense 5/15 - 1
3-41267002-CGT-TGA c.673_675delinsTGA p.R225* Nonsense 5/15 - 1
3-41267002-CGT-TGG c.673_675delinsTGG p.R225W Missense 5/15 - 3
3-41267002-C-T c.673C>T p.R225C Missense 5/15 - 9
3-41267003-G-A c.674G>A p.R225H Missense 5/15 - 8
3-41267003-G-C c.674G>C p.R225P Missense 5/15 - 1
3-41267003-GT-AA c.674_675delinsAA p.R225Q Missense 5/15 - 1
3-41267004-T-C c.675T>C p.R225= Synonymous 5/15 - 1
3-41267006-A-G c.677A>G p.E226G Missense 5/15 - 1
3-41267008-G-A c.679G>A p.G227S Missense 5/15 - 1
3-41267009-G-A c.680G>A p.G227D Missense 5/15 - 2
3-41267012-T-G c.683T>G p.L228* Nonsense 5/15 - 1
3-41267017-G-A c.688G>A p.A230T Missense 5/15 - 1
3-41267017-G-T c.688G>T p.A230S Missense 5/15 - 1
3-41267018-C-A c.689C>A p.A230D Missense 5/15 - 1
3-41267019-C-CGGCCCT c.690_691insGGCCCT p.A230_I231insGP InFrameInsertion 5/15 - 1
3-41267020-A-C c.691A>C p.I231L Missense 5/15 - 1
3-41267023-T-C c.694T>C p.F232L Missense 5/15 - 1
3-41267027-A-C c.698A>C p.K233T Missense 5/15 - 1
3-41267027-A-T c.698A>T p.K233M Missense 5/15 - 1
3-41267028-AG-A c.699del p.K233Nfs*9 Frameshift 5/15 - 1
3-41267028-G-A c.699G>A p.K233= Synonymous 5/15 - 1
3-41267028-G-C c.699G>C p.K233N Missense 5/15 - 1
3-41267028-G-T c.699G>T p.K233N Missense 5/15 - 1
3-41267029-T-C c.700T>C p.S234P Missense 5/15 - 1
3-41267029-TC-AA c.700_701delinsAA p.S234N Missense 5/15 - 1
3-41267030-C-A c.701C>A p.S234Y Missense 5/15 - 1
3-41267030-C-T c.701C>T p.S234F Missense 5/15 - 4
3-41267032-GGA-TGT c.703_705delinsTGT p.G235C Missense 5/15 - 1
3-41267032-G-T c.703G>T p.G235* Nonsense 5/15 - 4
3-41267033-GA-AC c.704_705delinsAC p.G235D Missense 5/15 - 1
3-41267033-G-GA c.705dup p.G236Rfs*35 Frameshift 5/15 - 3
3-41267035-G-A c.706G>A p.G236S Missense 5/15 - 1
3-41267034-A-AG c.707dup p.I237Hfs*34 Frameshift 5/15 - 1
3-41267036-G-C c.707G>C p.G236A Missense 5/15 - 1
3-41267039-T-G c.710T>G p.I237S Missense 5/15 - 1
3-41267041-C-G c.712C>G p.P238A Missense 5/15 - 1
3-41267042-C-A c.713C>A p.P238H Missense 5/15 - 1
3-41267044-G-A c.715G>A p.A239T Missense 5/15 - 1
3-41267045-C-T c.716C>T p.A239V Missense 5/15 - 1
3-41267047-C-T c.718C>T p.L240= Synonymous 5/15 - 2
3-41267047-CTG-TTT c.718_720delinsTTT p.L240F Missense 5/15 - 1
3-41267050-G-A c.721G>A p.V241M Missense 5/15 - 1
3-41267050-G-C c.721G>C p.V241L Missense 5/15 - 1
3-41267050-G-T c.721G>T p.V241L Missense 5/15 - 2
3-41267053-A-G c.724A>G p.K242E Missense 5/15 - 2
3-41267054-A-T c.725A>T p.K242I Missense 5/15 - 1
3-41267052-G-GA c.727dup p.M243Nfs*28 Frameshift 5/15 - 3
3-41267056-A-G c.727A>G p.M243V Missense 5/15 - 1
3-41267059-C-A c.730C>A p.L244I Missense 5/15 - 1
3-41267059-C-G c.730C>G p.L244V Missense 5/15 - 1
3-41267059-C-T c.730C>T p.L244F Missense 5/15 - 3
3-41267060-T-C c.731T>C p.L244P Missense 5/15 - 1
3-41267059-C-CT c.732dup p.G245Wfs*26 SpliceDonorInsertion 5/15 - 1
3-41267061-T-TA c.732_733insA p.G245Rfs*26 SpliceDonorInsertion 5/15 - 1
3-41267061-T-TC c.732_733insC p.G245Rfs*26 SpliceDonorInsertion 5/15 - 1
3-41267062-G-A c.733G>A p.G245S Missense 5/15 - 9
3-41267062-G-C c.733G>C p.G245R Missense 5/15 - 3
3-41267062-G-T c.733G>T p.G245C Missense 5/15 - 3
3-41267063-G-A c.734G>A p.G245D Missense 5/15 - 3
3-41267063-G-C c.734G>C p.G245A Missense 5/15 - 12
3-41267063-G-T c.734G>T p.G245V Missense 5/15 - 4
3-41267064-G-A c.734+1G>A - IntronicSNV - 5/14 4
3-41267064-G-T c.734+1G>T - IntronicSNV - 5/14 1
3-41267065-T-C c.734+2T>C - IntronicSNV - 5/14 1
3-41267150-GT-G c.736del p.S246Hfs*30 Frameshift 6/15 - 1
3-41267152-T-C c.736T>C p.S246P Missense 6/15 - 1
3-41267152-T-G c.736T>G p.S246A Missense 6/15 - 1
3-41267153-C-T c.737C>T p.S246L Missense 6/15 - 1
3-41267155-C-G c.739C>G p.P247A Missense 6/15 - 1
3-41267157-A-C c.741A>C p.P247= Synonymous 6/15 - 1
3-41267157-A-G c.741A>G p.P247= Synonymous 6/15 - 1
3-41267157-A-T c.741A>T p.P247= Synonymous 6/15 - 1
3-41267158-G-A c.742G>A p.V248M Missense 6/15 - 1
3-41267160-G-A c.744G>A p.V248= Synonymous 6/15 - 1
3-41267160-G-C c.744G>C p.V248= Synonymous 6/15 - 1
3-41267160-G-T c.744G>T p.V248= Synonymous 6/15 - 1
3-41267161-G-A c.745G>A p.D249N Missense 6/15 - 3
3-41267161-G-T c.745G>T p.D249Y Missense 6/15 - 1
3-41267164-TC-GA c.748_749inv p.S250D Missense 6/15 - 1
3-41267165-C-T c.749C>T p.S250F Missense 6/15 - 3
3-41267165-CT-GG c.749_750delinsGG p.S250W Missense 6/15 - 1
3-41267167-GTG-ATC c.751_753delinsATC p.V251I Missense 6/15 - 1
3-41267169-G-T c.753G>T p.V251= Synonymous 6/15 - 1
3-41267170-TT-AG c.754_755delinsAG p.L252R Missense 6/15 - 1
3-41267170-TT-CC c.754_755delinsCC p.L252P Missense 6/15 - 1
3-41267170-TTG-T c.756_757del p.L252Ffs*18 Frameshift 6/15 - 1
3-41267172-G-C c.756G>C p.L252F Missense 6/15 - 1
3-41267173-T-C c.757T>C p.F253L Missense 6/15 - 1
3-41267173-TT-GA c.757_758delinsGA p.F253D Missense 6/15 - 1
3-41267173-TT-GC c.757_758delinsGC p.F253A Missense 6/15 - 1
3-41267175-T-A c.759T>A p.F253L Missense 6/15 - 1
3-41267175-T-G c.759T>G p.F253L Missense 6/15 - 1
3-41267177-A-G c.761A>G p.Y254C Missense 6/15 - 1
3-41267180-C-A c.764C>A p.A255D Missense 6/15 - 1
3-41267180-C-G c.764C>G p.A255G Missense 6/15 - 1
3-41267180-C-T c.764C>T p.A255V Missense 6/15 - 2
3-41267181-C-A c.765C>A p.A255= Synonymous 6/15 - 1
3-41267181-C-G c.765C>G p.A255= Synonymous 6/15 - 1
3-41267181-C-T c.765C>T p.A255= Synonymous 6/15 - 1
3-41267183-T-C c.767T>C p.I256T Missense 6/15 - 5
3-41267182-AT-A c.768del p.T257Qfs*19 Frameshift 6/15 - 1
3-41267184-T-G c.768T>G p.I256M Missense 6/15 - 5
3-41267184-T-TA c.769dup p.T257Nfs*14 Frameshift 6/15 - 1
3-41267185-A-T c.769A>T p.T257S Missense 6/15 - 1
3-41267186-AC-A c.770del p.T257Kfs*19 Frameshift 6/15 - 1
3-41267186-C-T c.770C>T p.T257I Missense 6/15 - 19
3-41267187-A-G c.771A>G p.T257= Synonymous 6/15 - 1
3-41267186-CA-C c.772del p.T258Lfs*18 Frameshift 6/15 - 1
3-41267189-C-T c.773C>T p.T258I Missense 6/15 - 2
3-41267191-C-T c.775C>T p.L259F Missense 6/15 - 3
3-41267188-ACT-A c.776_777del p.L259Pfs*11 Frameshift 6/15 - 4
3-41267192-T-A c.776T>A p.L259H Missense 6/15 - 4
3-41267193-C-A c.777C>A p.L259= Synonymous 6/15 - 3
3-41267193-C-G c.777C>G p.L259= Synonymous 6/15 - 1
3-41267193-C-T c.777C>T p.L259= Synonymous 6/15 - 3
3-41267194-CA-GC c.778_779delinsGC p.H260A Missense 6/15 - 2
3-41267194-C-G c.778C>G p.H260D Missense 6/15 - 1
3-41267194-C-T c.778C>T p.H260Y Missense 6/15 - 2
3-41267195-A-G c.779A>G p.H260R Missense 6/15 - 3
3-41267196-C-A c.780C>A p.H260Q Missense 6/15 - 2
3-41267196-C-G c.780C>G p.H260Q Missense 6/15 - 2
3-41267196-C-T c.780C>T p.H260= Synonymous 6/15 - 3
3-41267197-AA-GC c.781_782delinsGC p.N261A Missense 6/15 - 1
3-41267197-CAACCTTTTAT-C c.781_790del p.N261Yfs*12 Frameshift 6/15 - 2
3-41267198-A-C c.782A>C p.N261T Missense 6/15 - 1
3-41267198-A-G c.782A>G p.N261S Missense 6/15 - 1
3-41267199-C-A c.783C>A p.N261K Missense 6/15 - 1
3-41267200-C-A c.784C>A p.L262I Missense 6/15 - 1
3-41267201-T-G c.785T>G p.L262R Missense 6/15 - 1
3-41267203-T-C c.787T>C p.L263= Synonymous 6/15 - 1
3-41267200-CT-C c.788del p.L263Yfs*13 Frameshift 6/15 - 1
3-41267204-T-A c.788T>A p.L263* Nonsense 6/15 - 1
3-41267204-T-G c.788T>G p.L263* Nonsense 6/15 - 2
3-41267205-AT-A c.791del p.L264Yfs*12 Frameshift 6/15 - 3
3-41267207-T-C c.791T>C p.L264S Missense 6/15 - 2
3-41267207-T-G c.791T>G p.L264* Nonsense 6/15 - 1
3-41267209-C-T c.793C>T p.H265Y Missense 6/15 - 1
3-41267211-T-C c.795T>C p.H265= Synonymous 6/15 - 1
3-41267212-C-G c.796C>G p.Q266E Missense 6/15 - 1
3-41267212-C-T c.796C>T p.Q266* Nonsense 6/15 - 7
3-41267212-C-CA c.798dup p.E267Rfs*4 Frameshift 6/15 - 1
3-41267214-A-G c.798A>G p.Q266= Synonymous 6/15 - 1
3-41267214-A-T c.798A>T p.Q266H Missense 6/15 - 3
3-41267212-CAAGAAGGAGCT-C c.799_809del p.E267Nfs*22 Frameshift 6/15 - 1
3-41267215-G-A c.799G>A p.E267K Missense 6/15 - 2
3-41267215-G-T c.799G>T p.E267* Nonsense 6/15 - 3
3-41267212-CAAG-C c.800_802del p.E267del InFrameDeletion 6/15 - 2
3-41267216-A-T c.800A>T p.E267V Missense 6/15 - 1
3-41267215-GA-G c.801del p.G268Efs*8 Frameshift 6/15 - 2
3-41267215-GAAGGAGCTAA-G c.802_811del p.G268Wfs*5 Frameshift 6/15 - 4
3-41267218-G-A c.802G>A p.G268R Missense 6/15 - 1
3-41267218-G-C c.802G>C p.G268R Missense 6/15 - 1
3-41267218-GGA-AGC c.802_804delinsAGC p.G268S Missense 6/15 - 1
3-41267217-A-AG c.803dup p.A269Sfs*2 Frameshift 6/15 - 1
3-41267219-G-C c.803G>C p.G268A Missense 6/15 - 1
3-41267220-A-C c.804A>C p.G268= Synonymous 6/15 - 1
3-41267220-A-G c.804A>G p.G268= Synonymous 6/15 - 1
3-41267220-A-T c.804A>T p.G268= Synonymous 6/15 - 1
3-41267221-G-A c.805G>A p.A269T Missense 6/15 - 1
3-41267224-A-C c.808A>C p.K270Q Missense 6/15 - 1
3-41267224-A-G c.808A>G p.K270E Missense 6/15 - 1
3-41267225-A-C c.809A>C p.K270T Missense 6/15 - 2
3-41267223-TA-T c.811del p.M271Wfs*5 Frameshift 6/15 - 2
3-41267228-T-A c.812T>A p.M271K Missense 6/15 - 1
3-41267228-T-C c.812T>C p.M271T Missense 6/15 - 1
3-41267230-G-T c.814G>T p.A272S Missense 6/15 - 1
3-41267231-C-G c.815C>G p.A272G Missense 6/15 - 1
3-41267231-C-T c.815C>T p.A272V Missense 6/15 - 1
3-41267233-AGTG-A c.817_819del p.V273del InFrameDeletion 6/15 - 1
3-41267233-G-A c.817G>A p.V273M Missense 6/15 - 1
3-41267236-CGT-TGA c.820_822delinsTGA p.R274* Nonsense 6/15 - 1
3-41267236-C-T c.820C>T p.R274C Missense 6/15 - 3
3-41267237-G-A c.821G>A p.R274H Missense 6/15 - 8
3-41267239-T-G c.823T>G p.L275V Missense 6/15 - 1
3-41267241-A-C c.825A>C p.L275F Missense 6/15 - 2
3-41267241-A-T c.825A>T p.L275F Missense 6/15 - 3
3-41267243-C-G c.827C>G p.A276G Missense 6/15 - 1
3-41267243-C-T c.827C>T p.A276V Missense 6/15 - 1
3-41267245-G-A c.829G>A p.G277S Missense 6/15 - 1
3-41267246-G-A c.830G>A p.G277D Missense 6/15 - 3
3-41267246-G-C c.830G>C p.G277A Missense 6/15 - 1
3-41267246-GT-AG c.830_831delinsAG p.G277E Missense 6/15 - 1
3-41267248-GGG-AGC c.832_834delinsAGC p.G278S Missense 6/15 - 1
3-41267249-G-A c.833G>A p.G278E Missense 6/15 - 1
3-41267249-G-T c.833G>T p.G278V Missense 6/15 - 1
3-41267251-C-T c.835C>T p.L279= Synonymous 6/15 - 1
3-41267251-CT-GC c.835_836delinsGC p.L279A Missense 6/15 - 1
3-41267251-CTG-TTT c.835_837delinsTTT p.L279F Missense 6/15 - 1
3-41267251-GC-G c.835del p.L279Cfs*26 Frameshift 6/15 - 2
3-41267252-T-C c.836T>C p.L279P Missense 6/15 - 1
3-41267254-C-T c.838C>T p.Q280* Nonsense 6/15 - 3
3-41267255-A-G c.839A>G p.Q280R Missense 6/15 - 1
3-41267256-G-C c.840G>C p.Q280H Missense 6/15 - 1
3-41267256-G-T c.840G>T p.Q280H Missense 6/15 - 1
3-41267257-A-G c.841A>G p.K281E Missense 6/15 - 1
3-41267257-A-T c.841A>T p.K281* Nonsense 6/15 - 2
3-41267258-A-T c.842A>T p.K281I Missense 6/15 - 1
3-41267259-A-C c.843A>C p.K281N Missense 6/15 - 1
3-41267259-A-G c.843A>G p.K281= Synonymous 6/15 - 1
3-41267259-A-T c.843A>T p.K281N Missense 6/15 - 1
3-41267260-AT-GC c.844_845delinsGC p.M282A Missense 6/15 - 1
3-41267263-G-A c.847G>A p.V283I Missense 6/15 - 1
3-41267265-T-A c.849T>A p.V283= Synonymous 6/15 - 2
3-41267265-T-C c.849T>C p.V283= Synonymous 6/15 - 2
3-41267265-T-G c.849T>G p.V283= Synonymous 6/15 - 2
3-41267266-G-A c.850G>A p.A284T Missense 6/15 - 1
3-41267267-C-A c.851C>A p.A284D Missense 6/15 - 1
3-41267268-C-A c.852C>A p.A284= Synonymous 6/15 - 2
3-41267268-C-G c.852C>G p.A284= Synonymous 6/15 - 2
3-41267268-C-T c.852C>T p.A284= Synonymous 6/15 - 3
3-41267269-T-C c.853T>C p.L285= Synonymous 6/15 - 2
3-41267269-T-G c.853T>G p.L285V Missense 6/15 - 1
3-41267271-G-A c.855G>A p.L285= Synonymous 6/15 - 2
3-41267272-C-G c.856C>G p.L286V Missense 6/15 - 2
3-41267272-C-T c.856C>T p.L286F Missense 6/15 - 1
3-41267272-GC-G c.856del p.L286Sfs*19 Frameshift 6/15 - 1
3-41267275-A-C c.859A>C p.N287H Missense 6/15 - 1
3-41267275-A-G c.859A>G p.N287D Missense 6/15 - 2
3-41267276-A-C c.860A>C p.N287T Missense 6/15 - 1
3-41267276-A-G c.860A>G p.N287S Missense 6/15 - 31
3-41267277-C-A c.861C>A p.N287K Missense 6/15 - 2
3-41267277-C-G c.861C>G p.N287K Missense 6/15 - 1
3-41267277-C-T c.861C>T p.N287= Synonymous 6/15 - 1
3-41267279-A-AG c.863_864insG p.T289Nfs*4 Frameshift 6/15 - 1
3-41267280-A-C c.864A>C p.K288N Missense 6/15 - 2
3-41267280-A-T c.864A>T p.K288N Missense 6/15 - 1
3-41267274-CAACAA-C c.865_869del p.T289Cfs*2 Frameshift 6/15 - 1
3-41267281-AC-GG c.865_866delinsGG p.T289G Missense 6/15 - 1
3-41267282-C-T c.866C>T p.T289I Missense 6/15 - 1
3-41267284-AAAT-A c.868_870del p.N290del InFrameDeletion 6/15 - 1
3-41267287-G-A c.871G>A p.V291I Missense 6/15 - 1
3-41267287-G-GT c.873dup p.K292* Nonsense 6/15 - 1
3-41267290-AA-GC c.874_875delinsGC p.K292A Missense 6/15 - 1
3-41267290-A-G c.874A>G p.K292E Missense 6/15 - 12
3-41267291-A-C c.875A>C p.K292T Missense 6/15 - 7
3-41267292-A-C c.876A>C p.K292N Missense 6/15 - 2
3-41267292-A-T c.876A>T p.K292N Missense 6/15 - 4
3-41267293-T-A c.877T>A p.F293I Missense 6/15 - 2
3-41267293-TT-GA c.877_878delinsGA p.F293D Missense 6/15 - 1
3-41267295-C-A c.879C>A p.F293L Missense 6/15 - 1
3-41267295-C-T c.879C>T p.F293= Synonymous 6/15 - 1
3-41267296-CTTGGCTATTACGACAGACTGCCTTCAA-C c.880_906del p.L294_Q302del InFrameDeletion 6/15 - 1
3-41267296-T-G c.880T>G p.L294V Missense 6/15 - 2
3-41267295-CT-C c.881del p.L294Wfs*11 Frameshift 6/15 - 1
3-41267298-G-C c.882G>C p.L294F Missense 6/15 - 3
3-41267298-G-T c.882G>T p.L294F Missense 6/15 - 2
3-41267299-G-A c.883G>A p.A295T Missense 6/15 - 2
3-41267299-GCT-TGG c.883_885delinsTGG p.A295W Missense 6/15 - 2
3-41267300-C-A c.884C>A p.A295D Missense 6/15 - 2
3-41267300-C-G c.884C>G p.A295G Missense 6/15 - 2
3-41267300-C-T c.884C>T p.A295V Missense 6/15 - 1
3-41267302-A-G c.886A>G p.I296V Missense 6/15 - 2
3-41267302-ATT-TGG c.886_888delinsTGG p.I296W Missense 6/15 - 1
3-41267303-T-A c.887T>A p.I296N Missense 6/15 - 2
3-41267305-AC-GG c.889_890delinsGG p.T297G Missense 6/15 - 1
3-41267306-C-T c.890C>T p.T297M Missense 6/15 - 2
3-41267304-TACG-T c.891_893del p.T298del InFrameDeletion 6/15 - 1
3-41267308-AC-GA c.892_893delinsGA p.T298E Missense 6/15 - 1
3-41267308-A-G c.892A>G p.T298A Missense 6/15 - 2
3-41267309-CA-TG c.893_894inv p.T298M Missense 6/15 - 1
3-41267311-G-A c.895G>A p.D299N Missense 6/15 - 3
3-41267311-G-C c.895G>C p.D299H Missense 6/15 - 1
3-41267311-G-T c.895G>T p.D299Y Missense 6/15 - 1
3-41267312-A-G c.896A>G p.D299G Missense 6/15 - 1
3-41267315-G-T c.899G>T p.C300F Missense 6/15 - 1
3-41267316-C-T c.900C>T p.C300= Synonymous 6/15 - 1
3-41267317-C-T c.901C>T p.L301F Missense 6/15 - 1
3-41267318-CTTCAA-C c.902_906del p.L301Hfs*16 Frameshift 6/15 - 3
3-41267320-C-T c.904C>T p.Q302* Nonsense 6/15 - 1
3-41267322-A-C c.906A>C p.Q302H Missense 6/15 - 5
3-41267322-A-T c.906A>T p.Q302H Missense 6/15 - 3
3-41267324-T-A c.908T>A p.I303N Missense 6/15 - 1
3-41267325-T-G c.909T>G p.I303M Missense 6/15 - 7
3-41267329-G-A c.913G>A p.A305T Missense 6/15 - 1
3-41267330-C-G c.914C>G p.A305G Missense 6/15 - 5
3-41267330-C-T c.914C>T p.A305V Missense 6/15 - 1
3-41267332-TA-GC c.916_917delinsGC p.Y306A Missense 6/15 - 2
3-41267332-T-G c.916T>G p.Y306D Missense 6/15 - 1
3-41267333-A-C c.917A>C p.Y306S Missense 6/15 - 2
3-41267333-TA-T c.917del p.Y306Lfs*19 Frameshift 6/15 - 1
3-41267334-T-A c.918T>A p.Y306* Nonsense 6/15 - 1
3-41267334-T-G c.918T>G p.Y306* Nonsense 6/15 - 1
3-41267336-G-A c.920G>A p.G307D Missense 6/15 - 1
3-41267341-C-G c.925C>G p.Q309E Missense 6/15 - 1
3-41267341-C-T c.925C>T p.Q309* Nonsense 6/15 - 5
3-41267343-A-C c.927A>C p.Q309H Missense 6/15 - 1
3-41267343-A-T c.927A>T p.Q309H Missense 6/15 - 1
3-41267344-G-A c.928G>A p.E310K Missense 6/15 - 5
3-41267346-A-G c.930A>G p.E310= Synonymous 6/15 - 1
3-41267344-GA-G c.931del p.S311Afs*14 Frameshift 6/15 - 1
3-41267347-A-G c.931A>G p.S311G Missense 6/15 - 2
3-41267347-AG-GA c.931_932delinsGA p.S311D Missense 6/15 - 1
3-41267347-AG-GC c.931_932delinsGC p.S311A Missense 6/15 - 2
3-41267346-AAGC-A c.932_934del p.S311del InFrameDeletion 6/15 - 1
3-41267348-G-A c.932G>A p.S311N Missense 6/15 - 1
3-41267347-A-C c.931A>C p.S311R Missense 6/15 - 1
3-41267349-C-A c.933C>A p.S311R Missense 6/15 - 1
3-41267349-C-CT c.933_934insT p.K312* Nonsense 6/15 - 1
3-41267349-C-G c.933C>G p.S311R Missense 6/15 - 1
3-41267350-AA-GC c.934_935delinsGC p.K312A Missense 6/15 - 1
3-41267350-A-G c.934A>G p.K312E Missense 6/15 - 2
3-41267351-A-G c.935A>G p.K312R Missense 6/15 - 1
3-41267352-G-A c.936G>A p.K312= Synonymous 6/15 - 2
3-41267352-G-C c.936G>C p.K312N Missense 6/15 - 1
3-41267352-G-T c.936G>T p.K312N Missense 6/15 - 1
3-41267354-T-G c.936+2T>G - IntronicSNV - 6/14 1
3-41267399-TC-T c.936+49del - IntronicDeletion - 6/14 1
3-41267401-C-A c.936+49C>A - IntronicSNV - 6/14 1
3-41267525-A-G c.936+173A>G - IntronicSNV - 6/14 1
3-41267752-C-T c.936+400C>T - IntronicSNV - 6/14 2
3-41268354-T-G c.937-345T>G - IntronicSNV - 6/14 4
3-41268699-C-A c.937C>A p.L313I Missense 7/15 - 1
3-41268699-C-T c.937C>T p.L313F Missense 7/15 - 1
3-41268699-C-CT c.938dup p.I314Hfs*5 SpliceAcceptorInsertion 7/15 - 1
3-41268703-T-C c.941T>C p.I314T Missense 7/15 - 1
3-41268703-TC-AG c.941_942delinsAG p.I314K Missense 7/15 - 1
3-41268704-C-A c.942C>A p.I314= Synonymous 7/15 - 1
3-41268704-C-T c.942C>T p.I314= Synonymous 7/15 - 1
3-41268705-A-G c.943A>G p.I315V Missense 7/15 - 1
3-41268705-CATA-C c.943_945del p.I315del InFrameDeletion 7/15 - 1
3-41268706-T-C c.944T>C p.I315T Missense 7/15 - 1
3-41268708-C-A c.946C>A p.L316M Missense 7/15 - 1
3-41268709-T-C c.947T>C p.L316P Missense 7/15 - 1
3-41268710-G-A c.948G>A p.L316= Synonymous 7/15 - 1
3-41268712-C-T c.950C>T p.A317V Missense 7/15 - 2
3-41268712-GC-G c.950del p.A317Vfs*8 Frameshift 7/15 - 1
3-41268713-T-TA c.952dup p.S318Kfs*35 Frameshift 7/15 - 1
3-41268713-T-TAA c.952_953insAA p.S318Kfs*8 Frameshift 7/15 - 1
3-41268713-T-TAAA c.952_953insAAA p.A317_S318insK InFrameInsertion 7/15 - 1
3-41268714-AG-GA c.952_953delinsGA p.S318D Missense 7/15 - 1
3-41268714-AG-GC c.952_953delinsGC p.S318A Missense 7/15 - 2
3-41268714-AG-TT c.952_953delinsTT p.S318F Missense 7/15 - 1
3-41268715-G-A c.953G>A p.S318N Missense 7/15 - 3
3-41268717-G-A c.955G>A p.G319S Missense 7/15 - 2
3-41268717-G-T c.955G>T p.G319C Missense 7/15 - 3
3-41268718-G-T c.956G>T p.G319V Missense 7/15 - 1
3-41268718-GT-AG c.956_957delinsAG p.G319E Missense 7/15 - 2
3-41268714-AGTG-A c.957_959del p.G320del InFrameDeletion 7/15 - 1
3-41268720-G-A c.958G>A p.G320R Missense 7/15 - 1
3-41268720-GGA-TGT c.958_960delinsTGT p.G320C Missense 7/15 - 1
3-41268719-T-TG c.959dup p.P321Tfs*32 Frameshift 7/15 - 3
3-41268721-G-A c.959G>A p.G320E Missense 7/15 - 1
3-41268721-G-C c.959G>C p.G320A Missense 7/15 - 1
3-41268723-C-T c.961C>T p.P321S Missense 7/15 - 1
3-41268726-C-A c.964C>A p.Q322K Missense 7/15 - 1
3-41268726-C-T c.964C>T p.Q322* Nonsense 7/15 - 3
3-41268727-A-G c.965A>G p.Q322R Missense 7/15 - 1
3-41268729-G-C c.967G>C p.A323P Missense 7/15 - 5
3-41268730-C-T c.968C>T p.A323V Missense 7/15 - 2
3-41268735-G-A c.973G>A p.V325I Missense 7/15 - 2
3-41268735-G-C c.973G>C p.V325L Missense 7/15 - 1
3-41268736-T-C c.974T>C p.V325A Missense 7/15 - 1
3-41268738-A-C c.976A>C p.N326H Missense 7/15 - 1
3-41268736-T-TA c.977dup p.N326Kfs*27 Frameshift 7/15 - 2
3-41268739-A-G c.977A>G p.N326S Missense 7/15 - 1
3-41268739-A-T c.977A>T p.N326I Missense 7/15 - 1
3-41268741-A-G c.979A>G p.I327V Missense 7/15 - 1
3-41268741-A-T c.979A>T p.I327L Missense 7/15 - 1
3-41268742-T-C c.980T>C p.I327T Missense 7/15 - 2
3-41268745-T-C c.983T>C p.M328T Missense 7/15 - 1
3-41268745-T-G c.983T>G p.M328R Missense 7/15 - 1
3-41268746-G-A c.984G>A p.M328I Missense 7/15 - 4
3-41268746-G-C c.984G>C p.M328I Missense 7/15 - 5
3-41268746-G-T c.984G>T p.M328I Missense 7/15 - 6
3-41268747-AGG-TGT c.985_987delinsTGT p.R329C Missense 7/15 - 1
3-41268747-A-T c.985A>T p.R329W Missense 7/15 - 2
3-41268748-G-T c.986G>T p.R329M Missense 7/15 - 1
3-41268747-A-AG c.987dup p.T330Dfs*23 Frameshift 7/15 - 1
3-41268750-A-G c.988A>G p.T330A Missense 7/15 - 1
3-41268750-A-T c.988A>T p.T330S Missense 7/15 - 1
3-41268751-CC-TG c.989_990delinsTG p.T330M Missense 7/15 - 1
3-41268751-C-G c.989C>G p.T330S Missense 7/15 - 1
3-41268751-C-T c.989C>T p.T330I Missense 7/15 - 2
3-41268752-C-A c.990C>A p.T330= Synonymous 7/15 - 1
3-41268753-T-C c.991T>C p.Y331H Missense 7/15 - 1
3-41268754-A-G c.992A>G p.Y331C Missense 7/15 - 1
3-41268754-A-T c.992A>T p.Y331F Missense 7/15 - 1
3-41268755-T-A c.993T>A p.Y331* Nonsense 7/15 - 1
3-41268755-T-G c.993T>G p.Y331* Nonsense 7/15 - 1
3-41268757-C-A c.995C>A p.T332N Missense 7/15 - 1
3-41268757-C-T c.995C>T p.T332I Missense 7/15 - 1
3-41268757-CT-C c.997del p.Y333Tfs*12 Frameshift 7/15 - 1
3-41268759-TA-CC c.997_998delinsCC p.Y333P Missense 7/15 - 1
3-41268759-T-TA c.998dup p.Y333* Nonsense 7/15 - 12
3-41268760-A-T c.998A>T p.Y333F Missense 7/15 - 15
3-41268761-AC-A c.999del p.Y333* Frameshift 7/15 - 2
3-41268761-C-A c.999C>A p.Y333* Nonsense 7/15 - 7
3-41268761-C-CT c.999_1000insT p.E334* Nonsense 7/15 - 1
3-41268761-C-G c.999C>G p.Y333* Nonsense 7/15 - 11
3-41268761-C-T c.999C>T p.Y333= Synonymous 7/15 - 1
3-41268762-G-A c.1000G>A p.E334K Missense 7/15 - 17
3-41268763-A-C c.1001A>C p.E334A Missense 7/15 - 7
3-41268763-A-G c.1001A>G p.E334G Missense 7/15 - 1
3-41268764-A-AT c.1002_1003insT p.K335* Nonsense 7/15 - 3
3-41268764-A-C c.1002A>C p.E334D Missense 7/15 - 2
3-41268764-A-T c.1002A>T p.E334D Missense 7/15 - 2
3-41268765-A-C c.1003A>C p.K335Q Missense 7/15 - 1
3-41268766-A-C c.1004A>C p.K335T Missense 7/15 - 31
3-41268766-A-T c.1004A>T p.K335I Missense 7/15 - 55
3-41268762-GA-G c.1005del p.K335Nfs*10 Frameshift 7/15 - 1
3-41268762-G-GA c.1005dup p.L336Tfs*17 Frameshift 7/15 - 1
3-41268767-A-C c.1005A>C p.K335N Missense 7/15 - 1
3-41268769-T-C c.1007T>C p.L336P Missense 7/15 - 2
3-41268770-A-C c.1008A>C p.L336= Synonymous 7/15 - 1
3-41268772-T-C c.1010T>C p.L337P Missense 7/15 - 1
3-41268775-G-A c.1013G>A p.W338* Nonsense 7/15 - 1
3-41268775-G-C c.1013G>C p.W338S Missense 7/15 - 1
3-41268775-G-T c.1013G>T p.W338L Missense 7/15 - 2
3-41268776-G-A c.1014G>A p.W338* Nonsense 7/15 - 2
3-41268778-C-A c.1016C>A p.T339N Missense 7/15 - 7
3-41268778-CCACAAGCAG-T c.1016_1025delinsT p.T339_R342delinsI MultiAAMissense 7/15 - 2
3-41268778-CC-TG c.1016_1017delinsTG p.T339M Missense 7/15 - 1
3-41268778-C-T c.1016C>T p.T339I Missense 7/15 - 2
3-41268780-A-C c.1018A>C p.T340P Missense 7/15 - 2
3-41268781-C-T c.1019C>T p.T340I Missense 7/15 - 1
3-41268780-ACAAG-A c.1021_1024del p.S341Efs*3 Frameshift 7/15 - 2
3-41268783-AG-CT c.1021_1022inv p.S341L Missense 7/15 - 1
3-41268784-AGC-A c.1022_1023del p.S341Kfs*11 Frameshift 7/15 - 1
3-41268784-G-A c.1022G>A p.S341N Missense 7/15 - 2
3-41268784-G-C c.1022G>C p.S341T Missense 7/15 - 1
3-41268785-C-CT c.1023_1024insT p.R342* Nonsense 7/15 - 1
3-41268785-C-T c.1023C>T p.S341= Synonymous 7/15 - 1
3-41268786-AG-CA c.1024_1025delinsCA p.R342Q Missense 7/15 - 1
3-41268786-AG-CC c.1024_1025delinsCC p.R342P Missense 7/15 - 2
3-41268786-A-T c.1024A>T p.R342* Nonsense 7/15 - 2
3-41268786-CA-C c.1024del p.R342Efs*3 Frameshift 7/15 - 1
3-41268787-G-A c.1025G>A p.R342K Missense 7/15 - 9
3-41268787-G-C c.1025G>C p.R342T Missense 7/15 - 1
3-41268787-G-T c.1025G>T p.R342I Missense 7/15 - 3
3-41268788-A-G c.1026A>G p.R342= Synonymous 7/15 - 2
3-41268789-GTG-ATC c.1027_1029delinsATC p.V343I Missense 7/15 - 1
3-41268790-T-TG c.1029dup p.L344Afs*9 Frameshift 7/15 - 1
3-41268792-C-A c.1030C>A p.L344M Missense 7/15 - 1
3-41268792-CTG-TTT c.1030_1032delinsTTT p.L344F Missense 7/15 - 2
3-41268792-C-T c.1030C>T p.L344= Synonymous 7/15 - 2
3-41268794-G-A c.1032G>A p.L344= Synonymous 7/15 - 1
3-41268794-G-C c.1032G>C p.L344= Synonymous 7/15 - 1
3-41268794-G-T c.1032G>T p.L344= Synonymous 7/15 - 1
3-41268795-AA-GC c.1033_1034delinsGC p.K345A Missense 7/15 - 4
3-41268795-A-C c.1033A>C p.K345Q Missense 7/15 - 1
3-41268794-GA-G c.1034del p.K345Rfs*14 Frameshift 7/15 - 1
3-41268796-A-G c.1034A>G p.K345R Missense 7/15 - 2
3-41268797-G-A c.1035G>A p.K345= Synonymous 7/15 - 1
3-41268797-G-C c.1035G>C p.K345N Missense 7/15 - 2
3-41268797-G-T c.1035G>T p.K345N Missense 7/15 - 1
3-41268798-G-C c.1036G>C p.V346L Missense 7/15 - 1
3-41268798-G-T c.1036G>T p.V346L Missense 7/15 - 1
3-41268799-T-TTGC c.1037_1038insTGC p.V346_L347insA InFrameInsertion 7/15 - 1
3-41268798-GTGCTATC-G c.1039_1045del p.L347Sfs*10 Frameshift 7/15 - 1
3-41268802-T-C c.1040T>C p.L347P Missense 7/15 - 3
3-41268800-GCTAT-G c.1041_1044del p.V349Afs*9 Frameshift 7/15 - 8
3-41268801-C-CTAGAAAGATATATATA c.1041_1042insGAAAGATATATATATA p.S348Efs*10 Frameshift 7/15 - 1
3-41268804-T-A c.1042T>A p.S348T Missense 7/15 - 2
3-41268803-ATC-A c.1043_1044del p.S348Cfs*4 Frameshift 7/15 - 3
3-41268805-C-A c.1043C>A p.S348Y Missense 7/15 - 3
3-41268805-C-T c.1043C>T p.S348F Missense 7/15 - 1
3-41268805-C-CT c.1044dup p.V349Cfs*4 Frameshift 7/15 - 1
3-41268806-T-A c.1044T>A p.S348= Synonymous 7/15 - 7
3-41268806-T-C c.1044T>C p.S348= Synonymous 7/15 - 6
3-41268806-T-G c.1044T>G p.S348= Synonymous 7/15 - 6
3-41268803-ATCTG-A c.1046_1049del p.V349Afs*9 Frameshift 7/15 - 1
3-41268809-C-A c.1047C>A p.V349= Synonymous 7/15 - 5
3-41268809-C-G c.1047C>G p.V349= Synonymous 7/15 - 4
3-41268809-C-T c.1047C>T p.V349= Synonymous 7/15 - 4
3-41268810-T-A c.1048T>A p.C350S Missense 7/15 - 1
3-41268810-TG-AC c.1048_1049delinsAC p.C350T Missense 7/15 - 1
3-41268811-G-C c.1049G>C p.C350S Missense 7/15 - 1
3-41268811-G-GC c.1050dup p.S351Lfs*2 Frameshift 7/15 - 1
3-41268814-C-G c.1052C>G p.S351C Missense 7/15 - 1
3-41268814-C-T c.1052C>T p.S351F Missense 7/15 - 2
3-41268815-T-A c.1053T>A p.S351= Synonymous 7/15 - 1
3-41268816-AG-GC c.1054_1055delinsGC p.S352A Missense 7/15 - 1
3-41268816-A-T c.1054A>T p.S352C Missense 7/15 - 1
3-41268817-G-A c.1055G>A p.S352N Missense 7/15 - 6
3-41268817-G-C c.1055G>C p.S352T Missense 7/15 - 1
3-41268816-A-C c.1054A>C p.S352R Missense 7/15 - 1
3-41268818-T-A c.1056T>A p.S352R Missense 7/15 - 1
3-41268818-T-G c.1056T>G p.S352R Missense 7/15 - 1
3-41268819-A-G c.1057A>G p.N353D Missense 7/15 - 1
3-41268822-A-C c.1060A>C p.K354Q Missense 7/15 - 4
3-41268823-A-C c.1061A>C p.K354T Missense 7/15 - 11
3-41268823-A-G c.1061A>G p.K354R Missense 7/15 - 2
3-41268824-G-C c.1062G>C p.K354N Missense 7/15 - 2
3-41268824-G-T c.1062G>T p.K354N Missense 7/15 - 2
3-41268824-GC-G c.1064del p.P355Rfs*4 Frameshift 7/15 - 1
3-41268826-C-T c.1064C>T p.P355L Missense 7/15 - 7
3-41268827-G-A c.1065G>A p.P355= Synonymous 7/15 - 2
3-41268827-G-C c.1065G>C p.P355= Synonymous 7/15 - 2
3-41268827-G-T c.1065G>T p.P355= Synonymous 7/15 - 2
3-41268829-C-G c.1067C>G p.A356G Missense 7/15 - 1
3-41268829-C-T c.1067C>T p.A356V Missense 7/15 - 1
3-41268831-A-C c.1069A>C p.I357L Missense 7/15 - 1
3-41268831-A-G c.1069A>G p.I357V Missense 7/15 - 1
3-41268835-T-A c.1073T>A p.V358E Missense 7/15 - 1
3-41268835-T-C c.1073T>C p.V358A Missense 7/15 - 1
3-41268836-A-C c.1074A>C p.V358= Synonymous 7/15 - 1
3-41268837-G-A c.1075G>A p.E359K Missense 7/15 - 3
3-41268840-G-A c.1078G>A p.A360T Missense 7/15 - 1
3-41268841-C-T c.1079C>T p.A360V Missense 7/15 - 1
3-41268842-T-A c.1080T>A p.A360= Synonymous 7/15 - 2
3-41268842-T-C c.1080T>C p.A360= Synonymous 7/15 - 3
3-41268842-T-G c.1080T>G p.A360= Synonymous 7/15 - 1
3-41268843-G-A c.1081G>A p.G361S Missense 7/15 - 3
3-41268844-G-C c.1081+1G>C - IntronicSNV - 7/14 1
3-41268844-G-T c.1081+1G>T - IntronicSNV - 7/14 3
3-41268845-T-C c.1081+2T>C - IntronicSNV - 7/14 1
3-41268880-C-G c.1081+37C>G - IntronicSNV - 7/14 1
3-41269152-A-G c.1081+309A>G - IntronicSNV - 7/14 1
3-41269152-A-T c.1081+309A>T - IntronicSNV - 7/14 1
3-41272081-C-A c.1082-2751C>A - IntronicSNV - 7/14 13
3-41274072-C-G c.1082-760C>G - IntronicSNV - 7/14 3
3-41274270-A-T c.1082-562A>T - IntronicSNV - 7/14 3
3-41274477-A-G c.1082-355A>G - IntronicSNV - 7/14 1
3-41274764-C-A c.1082-68C>A - IntronicSNV - 7/14 7
3-41274764-C-G c.1082-68C>G - IntronicSNV - 7/14 7
3-41274764-C-T c.1082-68C>T - IntronicSNV - 7/14 7
3-41274815-C-G c.1082-17C>G - IntronicSNV - 7/14 6
3-41274830-AG-A c.1082del p.G361Vfs*6 Frameshift 8/15 - 1
3-41274832-G-A c.1082G>A p.G361D Missense 8/15 - 3
3-41274832-G-T c.1082G>T p.G361V Missense 8/15 - 1
3-41274834-G-A c.1084G>A p.G362R Missense 8/15 - 1
3-41274837-A-G c.1087A>G p.M363V Missense 8/15 - 1
3-41274840-C-T c.1090C>T p.Q364* Nonsense 8/15 - 1
3-41274843-G-A c.1093G>A p.A365T Missense 8/15 - 1
3-41274843-GC-CG c.1093_1094delinsCG p.A365R Missense 8/15 - 1
3-41274843-GC-TG c.1093_1094delinsTG p.A365C Missense 8/15 - 1
3-41274844-C-A c.1094C>A p.A365D Missense 8/15 - 1
3-41274845-T-A c.1095T>A p.A365= Synonymous 8/15 - 1
3-41274845-T-C c.1095T>C p.A365= Synonymous 8/15 - 1
3-41274845-T-G c.1095T>G p.A365= Synonymous 8/15 - 1
3-41274846-T-A c.1096T>A p.L366I Missense 8/15 - 1
3-41274846-T-C c.1096T>C p.L366= Synonymous 8/15 - 1
3-41274848-A-G c.1098A>G p.L366= Synonymous 8/15 - 1
3-41274847-T-G c.1097T>G p.L366* Nonsense 8/15 - 1
3-41274849-G-A c.1099G>A p.G367R Missense 8/15 - 2
3-41274849-G-C c.1099G>C p.G367R Missense 8/15 - 2
3-41274850-G-T c.1100G>T p.G367V Missense 8/15 - 8
3-41274852-C-T c.1102C>T p.L368F Missense 8/15 - 1
3-41274853-T-A c.1103T>A p.L368H Missense 8/15 - 5
3-41274854-T-C c.1104T>C p.L368= Synonymous 8/15 - 1
3-41274855-C-T c.1105C>T p.H369Y Missense 8/15 - 4
3-41274855-TC-T c.1105del p.H369Tfs*2 Frameshift 8/15 - 1
3-41274856-A-G c.1106A>G p.H369R Missense 8/15 - 1
3-41274857-C-T c.1107C>T p.H369= Synonymous 8/15 - 1
3-41274858-C-A c.1108C>A p.L370M Missense 8/15 - 2
3-41274859-T-A c.1109T>A p.L370Q Missense 8/15 - 1
3-41274860-G-T c.1110G>T p.L370= Synonymous 8/15 - 1
3-41274861-ACA-TGT c.1111_1113inv p.T371C Missense 8/15 - 1
3-41274861-A-G c.1111A>G p.T371A Missense 8/15 - 1
3-41274862-CA-TG c.1112_1113inv p.T371M Missense 8/15 - 1
3-41274862-C-T c.1112C>T p.T371I Missense 8/15 - 1
3-41274863-A-AT c.1113_1114insT p.D372* Nonsense 8/15 - 1
3-41274863-A-AG c.1114dup p.D372Gfs*23 Frameshift 8/15 - 1
3-41274864-G-A c.1114G>A p.D372N Missense 8/15 - 1
3-41274867-C-A c.1117C>A p.P373T Missense 8/15 - 2
3-41274867-C-G c.1117C>G p.P373A Missense 8/15 - 3
3-41274867-C-T c.1117C>T p.P373S Missense 8/15 - 9
3-41274868-C-G c.1118C>G p.P373R Missense 8/15 - 1
3-41274870-AG-GC c.1120_1121delinsGC p.S374A Missense 8/15 - 2
3-41274871-G-A c.1121G>A p.S374N Missense 8/15 - 1
3-41274872-T-C c.1122T>C p.S374= Synonymous 8/15 - 1
3-41274873-C-CCCTGAACAAG c.1123_1124insCCTGAACAAG p.Q375Pfs*2 Frameshift 8/15 - 2
3-41274873-C-T c.1123C>T p.Q375* Nonsense 8/15 - 1
3-41274874-A-G c.1124A>G p.Q375R Missense 8/15 - 2
3-41274875-A-C c.1125A>C p.Q375H Missense 8/15 - 1
3-41274875-A-G c.1125A>G p.Q375= Synonymous 8/15 - 1
3-41274875-A-T c.1125A>T p.Q375H Missense 8/15 - 1
3-41274876-CG-AT c.1126_1127delinsAT p.R376I Missense 8/15 - 1
3-41274876-C-T c.1126C>T p.R376C Missense 8/15 - 4
3-41274877-G-A c.1127G>A p.R376H Missense 8/15 - 18
3-41274877-G-T c.1127G>T p.R376L Missense 8/15 - 1
3-41274878-T-C c.1128T>C p.R376= Synonymous 8/15 - 1
3-41274879-C-A c.1129C>A p.L377I Missense 8/15 - 2
3-41274881-T-A c.1131T>A p.L377= Synonymous 8/15 - 1
3-41274881-T-C c.1131T>C p.L377= Synonymous 8/15 - 1
3-41274881-T-G c.1131T>G p.L377= Synonymous 8/15 - 1
3-41274882-G-A c.1132G>A p.V378I Missense 8/15 - 1
3-41274883-T-C c.1133T>C p.V378A Missense 8/15 - 1
3-41274884-T-A c.1134T>A p.V378= Synonymous 8/15 - 1
3-41274884-T-C c.1134T>C p.V378= Synonymous 8/15 - 1
3-41274884-T-G c.1134T>G p.V378= Synonymous 8/15 - 1
3-41274885-C-A c.1135C>A p.Q379K Missense 8/15 - 2
3-41274885-C-G c.1135C>G p.Q379E Missense 8/15 - 1
3-41274885-C-T c.1135C>T p.Q379* Nonsense 8/15 - 2
3-41274886-A-G c.1136A>G p.Q379R Missense 8/15 - 1
3-41274889-A-G c.1139A>G p.N380S Missense 8/15 - 5
3-41274889-A-T c.1139A>T p.N380I Missense 8/15 - 2
3-41274890-C-A c.1140C>A p.N380K Missense 8/15 - 6
3-41274890-C-G c.1140C>G p.N380K Missense 8/15 - 6
3-41274891-T-A c.1141T>A p.C381S Missense 8/15 - 1
3-41274891-T-C c.1141T>C p.C381R Missense 8/15 - 4
3-41274892-G-C c.1142G>C p.C381S Missense 8/15 - 2
3-41274892-G-T c.1142G>T p.C381F Missense 8/15 - 1
3-41274894-C-T c.1144C>T p.L382F Missense 8/15 - 2
3-41274895-T-C c.1145T>C p.L382P Missense 8/15 - 4
3-41274897-T-A c.1147T>A p.W383R Missense 8/15 - 14
3-41274897-T-C c.1147T>C p.W383R Missense 8/15 - 23
3-41274897-T-G c.1147T>G p.W383G Missense 8/15 - 25
3-41274897-TG-GC c.1147_1148delinsGC p.W383A Missense 8/15 - 5
3-41274898-G-A c.1148G>A p.W383* Nonsense 8/15 - 2
3-41274898-G-C c.1148G>C p.W383S Missense 8/15 - 7
3-41274898-G-T c.1148G>T p.W383L Missense 8/15 - 1
3-41274899-G-A c.1149G>A p.W383* Nonsense 8/15 - 1
3-41274899-G-C c.1149G>C p.W383C Missense 8/15 - 9
3-41274899-G-T c.1149G>T p.W383C Missense 8/15 - 13
3-41274902-T-A c.1152T>A p.T384= Synonymous 8/15 - 1
3-41274902-T-C c.1152T>C p.T384= Synonymous 8/15 - 1
3-41274902-T-G c.1152T>G p.T384= Synonymous 8/15 - 1
3-41274903-C-A c.1153C>A p.L385I Missense 8/15 - 1
3-41274903-C-T c.1153C>T p.L385F Missense 8/15 - 2
3-41274903-C-CT c.1154dup p.R386Qfs*9 Frameshift 8/15 - 1
3-41274905-C-A c.1155C>A p.L385= Synonymous 8/15 - 4
3-41274905-C-G c.1155C>G p.L385= Synonymous 8/15 - 4
3-41274905-C-T c.1155C>T p.L385= Synonymous 8/15 - 6
3-41274906-A-G c.1156A>G p.R386G Missense 8/15 - 2
3-41274906-AG-CT c.1156_1157inv p.R386L Missense 8/15 - 1
3-41274906-AG-TA c.1156_1157delinsTA p.R386* Nonsense 8/15 - 1
3-41274906-A-T c.1156A>T p.R386W Missense 8/15 - 1
3-41274907-G-A c.1157G>A p.R386K Missense 8/15 - 1
3-41274907-G-T c.1157G>T p.R386M Missense 8/15 - 2
3-41274906-AG-A c.1158del p.N387Ifs*28 Frameshift 8/15 - 1
3-41274909-A-T c.1159A>T p.N387Y Missense 8/15 - 5
3-41274910-A-G c.1160A>G p.N387S Missense 8/15 - 4
3-41274910-A-T c.1160A>T p.N387I Missense 8/15 - 11
3-41274911-T-A c.1161T>A p.N387K Missense 8/15 - 54
3-41274911-T-G c.1161T>G p.N387K Missense 8/15 - 42
3-41274913-T-C c.1163T>C p.L388P Missense 8/15 - 5
3-41274912-CTT-C c.1164_1165del p.S389Rfs*5 Frameshift 8/15 - 1
3-41274912-CT-C c.1165del p.S389Qfs*26 Frameshift 8/15 - 1
3-41274915-T-C c.1165T>C p.S389P Missense 8/15 - 1
3-41274915-T-G c.1165T>G p.S389A Missense 8/15 - 1
3-41274916-C-T c.1166C>T p.S389L Missense 8/15 - 3
3-41274918-G-A c.1168G>A p.D390N Missense 8/15 - 1
3-41274918-G-C c.1168G>C p.D390H Missense 8/15 - 1
3-41274918-G-T c.1168G>T p.D390Y Missense 8/15 - 2
3-41274920-T-A c.1170T>A p.D390E Missense 8/15 - 4
3-41274920-T-G c.1170T>G p.D390E Missense 8/15 - 8
3-41274921-G-T c.1171G>T p.A391S Missense 8/15 - 4
3-41274922-C-T c.1172C>T p.A391V Missense 8/15 - 1
3-41274922-CT-AG c.1172_1173inv p.A391E Missense 8/15 - 1
3-41274924-G-A c.1174G>A p.A392T Missense 8/15 - 2
3-41274924-G-T c.1174G>T p.A392S Missense 8/15 - 1
3-41274925-C-G c.1175C>G p.A392G Missense 8/15 - 1
3-41274925-C-T c.1175C>T p.A392V Missense 8/15 - 2
3-41274925-C-CA c.1177dup p.T393Nfs*2 Frameshift 8/15 - 1
3-41274927-A-C c.1177A>C p.T393P Missense 8/15 - 1
3-41274927-AC-GA c.1177_1178delinsGA p.T393D Missense 8/15 - 1
3-41274927-A-G c.1177A>G p.T393A Missense 8/15 - 5
3-41274926-AACTAAACAGGTAAATTCTG-A c.1178_1185+11del - SpliceDonorDeletion 8/15 8/14 2
3-41274928-C-A c.1178C>A p.T393N Missense 8/15 - 1
3-41274930-A-G c.1180A>G p.K394E Missense 8/15 - 2
3-41274931-A-G c.1181A>G p.K394R Missense 8/15 - 1
3-41274932-A-C c.1182A>C p.K394N Missense 8/15 - 2
3-41274932-A-G c.1182A>G p.K394= Synonymous 8/15 - 1
3-41274932-A-T c.1182A>T p.K394N Missense 8/15 - 2
3-41274932-A-AC c.1183dup p.Q395Pfs*19 SpliceDonorInsertion 8/15 - 1
3-41274933-C-T c.1183C>T p.Q395* Nonsense 8/15 - 3
3-41274934-CAG-C c.1184_1185del p.Q395Rfs*18 SpliceDonorDeletion 8/15 - 1
3-41274935-G-A c.1185G>A p.Q395= Synonymous 8/15 - 1
3-41274939-A-G c.1185+4A>G - IntronicSNV - 8/14 1
3-41275020-G-A c.1186G>A p.E396K Missense 9/15 - 1
3-41275021-A-T c.1187A>T p.E396V Missense 9/15 - 1
3-41275022-A-C c.1188A>C p.E396D Missense 9/15 - 5
3-41275022-A-G c.1188A>G p.E396= Synonymous 9/15 - 1
3-41275022-A-T c.1188A>T p.E396D Missense 9/15 - 4
3-41275023-GGG-TGT c.1189_1191delinsTGT p.G397C Missense 9/15 - 1
3-41275024-G-A c.1190G>A p.G397E Missense 9/15 - 1
3-41275024-G-T c.1190G>T p.G397V Missense 9/15 - 2
3-41275025-G-C c.1191G>C p.G397= Synonymous 9/15 - 2
3-41275026-GAT-G c.1192_1193del p.M398Gfs*15 Frameshift 9/15 - 1
3-41275027-T-C c.1193T>C p.M398T Missense 9/15 - 1
3-41275028-G-A c.1194G>A p.M398I Missense 9/15 - 2
3-41275028-G-C c.1194G>C p.M398I Missense 9/15 - 1
3-41275028-G-T c.1194G>T p.M398I Missense 9/15 - 1
3-41275029-G-A c.1195G>A p.E399K Missense 9/15 - 2
3-41275030-A-C c.1196A>C p.E399A Missense 9/15 - 4
3-41275032-G-A c.1198G>A p.G400S Missense 9/15 - 1
3-41275033-G-A c.1199G>A p.G400D Missense 9/15 - 1
3-41275033-G-C c.1199G>C p.G400A Missense 9/15 - 1
3-41275033-G-T c.1199G>T p.G400V Missense 9/15 - 3
3-41275034-T-C c.1200T>C p.G400= Synonymous 9/15 - 1
3-41275035-C-G c.1201C>G p.L401V Missense 9/15 - 1
3-41275035-C-T c.1201C>T p.L401F Missense 9/15 - 1
3-41275036-T-A c.1202T>A p.L401H Missense 9/15 - 1
3-41275037-C-A c.1203C>A p.L401= Synonymous 9/15 - 1
3-41275037-C-G c.1203C>G p.L401= Synonymous 9/15 - 1
3-41275037-C-T c.1203C>T p.L401= Synonymous 9/15 - 4
3-41275038-C-T c.1204C>T p.L402F Missense 9/15 - 7
3-41275038-CT-GC c.1204_1205delinsGC p.L402A Missense 9/15 - 1
3-41275038-CT-C c.1206del p.T404Lfs*11 Frameshift 9/15 - 1
3-41275040-T-A c.1206T>A p.L402= Synonymous 9/15 - 1
3-41275040-T-C c.1206T>C p.L402= Synonymous 9/15 - 1
3-41275040-T-G c.1206T>G p.L402= Synonymous 9/15 - 1
3-41275041-G-A c.1207G>A p.G403R Missense 9/15 - 1
3-41275041-G-C c.1207G>C p.G403R Missense 9/15 - 1
3-41275041-GGG-TGT c.1207_1209delinsTGT p.G403C Missense 9/15 - 1
3-41275042-G-A c.1208G>A p.G403E Missense 9/15 - 2
3-41275042-G-C c.1208G>C p.G403A Missense 9/15 - 1
3-41275042-GG-AC c.1208_1209delinsAC p.G403D Missense 9/15 - 1
3-41275042-G-T c.1208G>T p.G403V Missense 9/15 - 1
3-41275044-AC-GT c.1210_1211inv p.T404V Missense 9/15 - 1
3-41275044-A-G c.1210A>G p.T404A Missense 9/15 - 2
3-41275045-C-G c.1211C>G p.T404S Missense 9/15 - 1
3-41275045-C-T c.1211C>T p.T404I Missense 9/15 - 2
3-41275046-T-A c.1212T>A p.T404= Synonymous 9/15 - 1
3-41275046-T-C c.1212T>C p.T404= Synonymous 9/15 - 1
3-41275046-T-G c.1212T>G p.T404= Synonymous 9/15 - 1
3-41275044-ACT-A c.1213_1214del p.L405Cfs*8 Frameshift 9/15 - 3
3-41275047-C-T c.1213C>T p.L405F Missense 9/15 - 9
3-41275048-T-C c.1214T>C p.L405P Missense 9/15 - 2
3-41275049-T-A c.1215T>A p.L405= Synonymous 9/15 - 1
3-41275050-G-A c.1216G>A p.V406I Missense 9/15 - 3
3-41275052-T-G c.1218T>G p.V406= Synonymous 9/15 - 1
3-41275053-C-T c.1219C>T p.Q407* Nonsense 9/15 - 4
3-41275054-A-G c.1220A>G p.Q407R Missense 9/15 - 1
3-41275055-G-A c.1221G>A p.Q407= Synonymous 9/15 - 1
3-41275056-C-G c.1222C>G p.L408V Missense 9/15 - 1
3-41275056-C-T c.1222C>T p.L408F Missense 9/15 - 2
3-41275057-T-C c.1223T>C p.L408P Missense 9/15 - 1
3-41275059-CTG-ATC c.1225_1227delinsATC p.L409I Missense 9/15 - 1
3-41275062-G-A c.1228G>A p.G410S Missense 9/15 - 1
3-41275062-G-T c.1228G>T p.G410C Missense 9/15 - 2
3-41275060-T-TG c.1229dup p.S411Ffs*3 Frameshift 9/15 - 1
3-41275063-G-A c.1229G>A p.G410D Missense 9/15 - 2
3-41275066-C-T c.1232C>T p.S411L Missense 9/15 - 1
3-41275068-G-C c.1234G>C p.D412H Missense 9/15 - 4
3-41275069-A-C c.1235A>C p.D412A Missense 9/15 - 1
3-41275069-A-G c.1235A>G p.D412G Missense 9/15 - 2
3-41275069-A-T c.1235A>T p.D412V Missense 9/15 - 1
3-41275071-G-A c.1237G>A p.D413N Missense 9/15 - 2
3-41275074-A-G c.1240A>G p.I414V Missense 9/15 - 1
3-41275074-AT-GG c.1240_1241delinsGG p.I414G Missense 9/15 - 1
3-41275077-A-C c.1243A>C p.N415H Missense 9/15 - 3
3-41275078-AATG-A c.1244_1246del p.N415_V416delinsM MultiAAMissense 9/15 - 1
3-41275080-G-A c.1246G>A p.V416M Missense 9/15 - 1
3-41275081-GTGGT-G c.1247_1250del p.V416Afs*20 Frameshift 9/15 - 1
3-41275081-T-TG c.1249dup p.V417Gfs*10 Frameshift 9/15 - 2
3-41275083-G-A c.1249G>A p.V417I Missense 9/15 - 1
3-41275084-T-A c.1250T>A p.V417D Missense 9/15 - 1
3-41275085-C-A c.1251C>A p.V417= Synonymous 9/15 - 1
3-41275085-C-G c.1251C>G p.V417= Synonymous 9/15 - 2
3-41275085-C-T c.1251C>T p.V417= Synonymous 9/15 - 1
3-41275085-TCACC-T c.1251_1254del p.T418Vfs*18 Frameshift 9/15 - 1
3-41275086-A-G c.1252A>G p.T418A Missense 9/15 - 1
3-41275087-C-T c.1253C>T p.T418I Missense 9/15 - 1
3-41275088-C-A c.1254C>A p.T418= Synonymous 9/15 - 4
3-41275088-C-G c.1254C>G p.T418= Synonymous 9/15 - 3
3-41275088-C-T c.1254C>T p.T418= Synonymous 9/15 - 3
3-41275087-CCTGTG-C c.1255_1259del p.C419Sfs*6 Frameshift 9/15 - 1
3-41275089-CT-C c.1255del p.C419Vfs*18 Frameshift 9/15 - 1
3-41275089-T-C c.1255T>C p.C419R Missense 9/15 - 3
3-41275089-TG-GC c.1255_1256delinsGC p.C419A Missense 9/15 - 1
3-41275090-G-A c.1256G>A p.C419Y Missense 9/15 - 1
3-41275087-CCTGTGCAG-C c.1257_1264del p.C419Wfs*5 Frameshift 9/15 - 1
3-41275091-T-A c.1257T>A p.C419* Nonsense 9/15 - 1
3-41275093-C-T c.1259C>T p.A420V Missense 9/15 - 2
3-41275096-C-G c.1262C>G p.A421G Missense 9/15 - 1
3-41275096-C-T c.1262C>T p.A421V Missense 9/15 - 5
3-41275098-GGA-AGC c.1264_1266delinsAGC p.G422S Missense 9/15 - 1
3-41275098-G-T c.1264G>T p.G422* Nonsense 9/15 - 1
3-41275099-G-A c.1265G>A p.G422E Missense 9/15 - 2
3-41275099-GA-AC c.1265_1266delinsAC p.G422D Missense 9/15 - 1
3-41275099-G-C c.1265G>C p.G422A Missense 9/15 - 1
3-41275099-G-T c.1265G>T p.G422V Missense 9/15 - 1
3-41275101-A-T c.1267A>T p.I423F Missense 9/15 - 1
3-41275103-T-C c.1269T>C p.I423= Synonymous 9/15 - 1
3-41275103-T-G c.1269T>G p.I423M Missense 9/15 - 1
3-41275103-T-TTACCTGTTTAGTTG c.1269_1270insTACCTGTTTAGTTG p.L424Yfs*18 Frameshift 9/15 - 1
3-41275104-C-G c.1270C>G p.L424V Missense 9/15 - 1
3-41275104-C-T c.1270C>T p.L424F Missense 9/15 - 1
3-41275105-T-G c.1271T>G p.L424R Missense 9/15 - 3
3-41275101-ATTCT-A c.1272_1275del p.S425Tfs*11 Frameshift 9/15 - 8
3-41275106-T-C c.1272T>C p.L424= Synonymous 9/15 - 1
3-41275104-C-CT c.1273dup p.S425Ffs*2 Frameshift 9/15 - 1
3-41275107-T-A c.1273T>A p.S425T Missense 9/15 - 2
3-41275107-T-G c.1273T>G p.S425A Missense 9/15 - 1
3-41275108-C-G c.1274C>G p.S425C Missense 9/15 - 3
3-41275108-C-T c.1274C>T p.S425F Missense 9/15 - 1
3-41275108-TCTA-T c.1274_1276del p.S425_N426delinsY MultiAAMissense 9/15 - 1
3-41275110-AA-GC c.1276_1277delinsGC p.N426A Missense 9/15 - 1
3-41275110-A-G c.1276A>G p.N426D Missense 9/15 - 9
3-41275110-TAAC-T c.1276_1278del p.N426del InFrameDeletion 9/15 - 1
3-41275109-TA-T c.1277del p.N426Tfs*11 Frameshift 9/15 - 1
3-41275112-C-T c.1278C>T p.N426= Synonymous 9/15 - 1
3-41275113-C-T c.1279C>T p.L427F Missense 9/15 - 2
3-41275114-T-C c.1280T>C p.L427P Missense 9/15 - 1
3-41275116-A-G c.1282A>G p.T428A Missense 9/15 - 1
3-41275116-A-T c.1282A>T p.T428S Missense 9/15 - 1
3-41275119-T-A c.1285T>A p.C429S Missense 9/15 - 2
3-41275119-T-G c.1285T>G p.C429G Missense 9/15 - 11
3-41275120-G-C c.1286G>C p.C429S Missense 9/15 - 2
3-41275120-G-A c.1286G>A p.C429Y Missense 9/15 - 4
3-41275121-C-A c.1287C>A p.C429* Nonsense 9/15 - 1
3-41275124-T-C c.1290T>C p.N430= Synonymous 9/15 - 1
3-41275128-TATA-T c.1296_1298del p.Y432_K433delins* MultiAAMissense 9/15 - 1
3-41275130-T-A c.1296T>A p.Y432* Nonsense 9/15 - 1
3-41275130-T-G c.1296T>G p.Y432* Nonsense 9/15 - 1
3-41275131-A-G c.1297A>G p.K433E Missense 9/15 - 1
3-41275131-A-T c.1297A>T p.K433* Nonsense 9/15 - 1
3-41275132-A-G c.1298A>G p.K433R Missense 9/15 - 1
3-41275133-G-A c.1299G>A p.K433= Synonymous 9/15 - 1
3-41275134-A-G c.1300A>G p.N434D Missense 9/15 - 1
3-41275135-A-G c.1301A>G p.N434S Missense 9/15 - 1
3-41275136-C-A c.1302C>A p.N434K Missense 9/15 - 2
3-41275136-C-G c.1302C>G p.N434K Missense 9/15 - 1
3-41275137-AA-GC c.1303_1304delinsGC p.K435A Missense 9/15 - 2
3-41275137-A-G c.1303A>G p.K435E Missense 9/15 - 4
3-41275137-A-T c.1303A>T p.K435* Nonsense 9/15 - 3
3-41275139-G-C c.1305G>C p.K435N Missense 9/15 - 2
3-41275139-G-T c.1305G>T p.K435N Missense 9/15 - 1
3-41275141-T-A c.1307T>A p.M436K Missense 9/15 - 1
3-41275142-G-A c.1308G>A p.M436I Missense 9/15 - 1
3-41275145-G-A c.1311G>A p.M437I Missense 9/15 - 1
3-41275146-G-A c.1312G>A p.V438I Missense 9/15 - 1
3-41275146-G-C c.1312G>C p.V438L Missense 9/15 - 1
3-41275146-G-T c.1312G>T p.V438F Missense 9/15 - 1
3-41275147-T-C c.1313T>C p.V438A Missense 9/15 - 1
3-41275147-T-G c.1313T>G p.V438G Missense 9/15 - 1
3-41275149-T-A c.1315T>A p.C439S Missense 9/15 - 1
3-41275149-TG-GC c.1315_1316delinsGC p.C439A Missense 9/15 - 1
3-41275150-G-C c.1316G>C p.C439S Missense 9/15 - 1
3-41275149-T-TG c.1316dup p.C439Wfs*18 Frameshift 9/15 - 1
3-41275150-G-A c.1316G>A p.C439Y Missense 9/15 - 4
3-41275151-C-A c.1317C>A p.C439* Nonsense 9/15 - 1
3-41275151-C-T c.1317C>T p.C439= Synonymous 9/15 - 4
3-41275152-C-T c.1318C>T p.Q440* Nonsense 9/15 - 2
3-41275153-A-C c.1319A>C p.Q440P Missense 9/15 - 1
3-41275154-A-T c.1320A>T p.Q440H Missense 9/15 - 1
3-41275158-G-A c.1324G>A p.G442S Missense 9/15 - 2
3-41275159-G-A c.1325G>A p.G442D Missense 9/15 - 1
3-41275160-T-A c.1326T>A p.G442= Synonymous 9/15 - 1
3-41275160-T-C c.1326T>C p.G442= Synonymous 9/15 - 1
3-41275160-T-G c.1326T>G p.G442= Synonymous 9/15 - 1
3-41275161-G-A c.1327G>A p.G443S Missense 9/15 - 1
3-41275161-G-T c.1327G>T p.G443C Missense 9/15 - 1
3-41275162-G-A c.1328G>A p.G443D Missense 9/15 - 2
3-41275162-G-T c.1328G>T p.G443V Missense 9/15 - 1
3-41275167-AG-A c.1333del p.E445Rfs*27 Frameshift 9/15 - 1
3-41275167-G-A c.1333G>A p.E445K Missense 9/15 - 1
3-41275167-G-T c.1333G>T p.E445* Nonsense 9/15 - 1
3-41275170-G-A c.1336G>A p.A446T Missense 9/15 - 1
3-41275171-C-T c.1337C>T p.A446V Missense 9/15 - 2
3-41275172-T-A c.1338T>A p.A446= Synonymous 9/15 - 1
3-41275172-T-C c.1338T>C p.A446= Synonymous 9/15 - 1
3-41275172-T-G c.1338T>G p.A446= Synonymous 9/15 - 1
3-41275173-C-T c.1339C>T p.L447F Missense 9/15 - 2
3-41275177-T-TGG c.1344_1345insGG p.R449Gfs*24 Frameshift 9/15 - 1
3-41275178-G-A c.1344G>A p.V448= Synonymous 9/15 - 3
3-41275178-G-C c.1344G>C p.V448= Synonymous 9/15 - 2
3-41275178-G-T c.1344G>T p.V448= Synonymous 9/15 - 2
3-41275179-C-A c.1345C>A p.R449S Missense 9/15 - 1
3-41275179-CGT-GAG c.1345_1347delinsGAG p.R449E Missense 9/15 - 1
3-41275179-CGT-TGA c.1345_1347delinsTGA p.R449* Nonsense 9/15 - 1
3-41275179-C-T c.1345C>T p.R449C Missense 9/15 - 3
3-41275179-GCGT-G c.1345_1347del p.R449del InFrameDeletion 9/15 - 1
3-41275180-G-A c.1346G>A p.R449H Missense 9/15 - 15
3-41275180-G-T c.1346G>T p.R449L Missense 9/15 - 1
3-41275180-GTAC-G c.1348_1350del p.T450del InFrameDeletion 9/15 - 1
3-41275182-A-G c.1348A>G p.T450A Missense 9/15 - 2
3-41275182-TAC-T c.1348_1349del p.T450Cfs*6 Frameshift 9/15 - 1
3-41275182-A-T c.1348A>T p.T450S Missense 9/15 - 2
3-41275183-C-G c.1349C>G p.T450S Missense 9/15 - 1
3-41275183-C-T c.1349C>T p.T450I Missense 9/15 - 1
3-41275184-T-A c.1350T>A p.T450= Synonymous 9/15 - 1
3-41275184-T-C c.1350T>C p.T450= Synonymous 9/15 - 2
3-41275184-T-G c.1350T>G p.T450= Synonymous 9/15 - 1
3-41275185-G-A c.1351G>A p.V451I Missense 9/15 - 3
3-41275185-GTC-ATG c.1351_1353delinsATG p.V451M Missense 9/15 - 1
3-41275186-TC-T c.1354del p.L452Ffs*20 Frameshift 9/15 - 4
3-41275186-T-TC c.1354dup p.L452Pfs*5 Frameshift 9/15 - 1
3-41275188-C-A c.1354C>A p.L452I Missense 9/15 - 1
3-41275188-C-T c.1354C>T p.L452F Missense 9/15 - 1
3-41275189-T-C c.1355T>C p.L452P Missense 9/15 - 1
3-41275189-T-G c.1355T>G p.L452R Missense 9/15 - 1
3-41275191-CGG-TGT c.1357_1359delinsTGT p.R453C Missense 9/15 - 1
3-41275191-C-T c.1357C>T p.R453W Missense 9/15 - 3
3-41275192-G-A c.1358G>A p.R453Q Missense 9/15 - 9
3-41275192-G-T c.1358G>T p.R453L Missense 9/15 - 1
3-41275194-G-A c.1360G>A p.A454T Missense 9/15 - 2
3-41275195-C-G c.1361C>G p.A454G Missense 9/15 - 1
3-41275195-C-T c.1361C>T p.A454V Missense 9/15 - 2
3-41275197-G-A c.1363G>A p.G455S Missense 9/15 - 1
3-41275197-G-C c.1363G>C p.G455R Missense 9/15 - 1
3-41275197-GGTGACAGGGAAGACA-TTT c.1363_1378delinsTTT p.G455Ffs*13 Frameshift 9/15 - 1
3-41275197-GGTGACAGGGAAGACA-TTTCTC c.1363_1378delinsTTTCTC p.G455Ffs*14 Frameshift 9/15 - 1
3-41275199-T-A c.1365T>A p.G455= Synonymous 9/15 - 1
3-41275199-T-C c.1365T>C p.G455= Synonymous 9/15 - 1
3-41275199-T-G c.1365T>G p.G455= Synonymous 9/15 - 1
3-41275200-G-C c.1366G>C p.D456H Missense 9/15 - 1
3-41275202-C-CT c.1368_1369insT p.R457* Nonsense 9/15 - 1
3-41275203-AGG-TGT c.1369_1371delinsTGT p.R457C Missense 9/15 - 1
3-41275203-AG-TA c.1369_1370delinsTA p.R457* Nonsense 9/15 - 1
3-41275203-A-T c.1369A>T p.R457W Missense 9/15 - 1
3-41275203-CAG-C c.1369_1370del p.R457Gfs*5 Frameshift 9/15 - 3
3-41275204-G-A c.1370G>A p.R457K Missense 9/15 - 3
3-41275204-G-T c.1370G>T p.R457M Missense 9/15 - 1
3-41275206-G-A c.1372G>A p.E458K Missense 9/15 - 2
3-41275206-G-C c.1372G>C p.E458Q Missense 9/15 - 3
3-41275207-A-G c.1373A>G p.E458G Missense 9/15 - 1
3-41275209-GAC-G c.1377_1378del p.I460Hfs*2 Frameshift 9/15 - 1
3-41275211-C-T c.1377C>T p.D459= Synonymous 9/15 - 1
3-41275213-T-C c.1379T>C p.I460T Missense 9/15 - 6
3-41275215-A-C c.1381A>C p.T461P Missense 9/15 - 1
3-41275215-A-G c.1381A>G p.T461A Missense 9/15 - 1
3-41275220-GC-G c.1388del p.P463Lfs*9 Frameshift 9/15 - 1
3-41275222-C-T c.1388C>T p.P463L Missense 9/15 - 1
3-41275225-C-T c.1391C>T p.A464V Missense 9/15 - 4
3-41275226-C-A c.1392C>A p.A464= Synonymous 9/15 - 1
3-41275226-C-G c.1392C>G p.A464= Synonymous 9/15 - 1
3-41275226-C-T c.1392C>T p.A464= Synonymous 9/15 - 1
3-41275227-A-G c.1393A>G p.I465V Missense 9/15 - 4
3-41275228-T-A c.1394T>A p.I465N Missense 9/15 - 1
3-41275229-C-G c.1395C>G p.I465M Missense 9/15 - 3
3-41275230-T-A c.1396T>A p.C466S Missense 9/15 - 1
3-41275230-TG-GC c.1396_1397delinsGC p.C466A Missense 9/15 - 1
3-41275231-G-C c.1397G>C p.C466S Missense 9/15 - 1
3-41275231-G-A c.1397G>A p.C466Y Missense 9/15 - 1
3-41275231-G-T c.1397G>T p.C466F Missense 9/15 - 1
3-41275229-CTG-C c.1398_1399del p.A467Sfs*29 Frameshift 9/15 - 1
3-41275232-T-G c.1398T>G p.C466W Missense 9/15 - 1
3-41275233-G-A c.1399G>A p.A467T Missense 9/15 - 6
3-41275233-G-T c.1399G>T p.A467S Missense 9/15 - 1
3-41275234-C-G c.1400C>G p.A467G Missense 9/15 - 1
3-41275234-C-T c.1400C>T p.A467V Missense 9/15 - 1
3-41275236-C-G c.1402C>G p.L468V Missense 9/15 - 2
3-41275236-CTT-ATG c.1402_1404delinsATG p.L468M Missense 9/15 - 1
3-41275239-CGT-TGG c.1405_1407delinsTGG p.R469W Missense 9/15 - 1
3-41275239-C-T c.1405C>T p.R469C Missense 9/15 - 5
3-41275240-G-A c.1406G>A p.R469H Missense 9/15 - 7
3-41275242-C-A c.1408C>A p.H470N Missense 9/15 - 1
3-41275242-CA-GC c.1408_1409delinsGC p.H470A Missense 9/15 - 1
3-41275242-C-T c.1408C>T p.H470Y Missense 9/15 - 1
3-41275243-A-G c.1409A>G p.H470R Missense 9/15 - 4
3-41275246-T-A c.1412T>A p.L471Q Missense 9/15 - 3
3-41275245-C-T c.1411C>T p.L471= Synonymous 9/15 - 1
3-41275247-G-A c.1413G>A p.L471= Synonymous 9/15 - 1
3-41275247-G-C c.1413G>C p.L471= Synonymous 9/15 - 1
3-41275247-G-T c.1413G>T p.L471= Synonymous 9/15 - 1
3-41275248-A-T c.1414A>T p.T472S Missense 9/15 - 1
3-41275249-C-G c.1415C>G p.T472S Missense 9/15 - 1
3-41275251-AG-GC c.1417_1418delinsGC p.S473A Missense 9/15 - 3
3-41275252-G-A c.1418G>A p.S473N Missense 9/15 - 2
3-41275254-CG-AA c.1420_1421delinsAA p.R474K Missense 9/15 - 1
3-41275254-CGA-ATG c.1420_1422delinsATG p.R474M Missense 9/15 - 1
3-41275254-CG-GC c.1420_1421delinsGC p.R474A Missense 9/15 - 3
3-41275254-C-T c.1420C>T p.R474* Nonsense 9/15 - 21
3-41275255-G-A c.1421G>A p.R474Q Missense 9/15 - 9
3-41275259-C-A c.1425C>A p.H475Q Missense 9/15 - 2
3-41275259-C-G c.1425C>G p.H475Q Missense 9/15 - 1
3-41275260-C-G c.1426C>G p.Q476E Missense 9/15 - 1
3-41275260-C-T c.1426C>T p.Q476* Nonsense 9/15 - 1
3-41275262-A-C c.1428A>C p.Q476H Missense 9/15 - 1
3-41275262-A-T c.1428A>T p.Q476H Missense 9/15 - 1
3-41275263-G-A c.1429G>A p.E477K Missense 9/15 - 2
3-41275263-G-T c.1429G>T p.E477* Nonsense 9/15 - 1
3-41275264-A-G c.1430A>G p.E477G Missense 9/15 - 1
3-41275264-A-T c.1430A>T p.E477V Missense 9/15 - 1
3-41275266-G-T c.1432G>T p.A478S Missense 9/15 - 1
3-41275267-C-T c.1433C>T p.A478V Missense 9/15 - 4
3-41275267-C-CA c.1434dup p.E479Rfs*18 Frameshift 9/15 - 1
3-41275268-A-AC c.1434_1435insC p.E479Rfs*18 Frameshift 9/15 - 3
3-41275269-G-A c.1435G>A p.E479K Missense 9/15 - 3
3-41275269-G-C c.1435G>C p.E479Q Missense 9/15 - 1
3-41275270-A-G c.1436A>G p.E479G Missense 9/15 - 1
3-41275271-G-A c.1437G>A p.E479= Synonymous 9/15 - 1
3-41275271-G-C c.1437G>C p.E479D Missense 9/15 - 1
3-41275271-G-T c.1437G>T p.E479D Missense 9/15 - 1
3-41275272-A-G c.1438A>G p.M480V Missense 9/15 - 1
3-41275276-C-A c.1442C>A p.A481D Missense 9/15 - 1
3-41275276-C-T c.1442C>T p.A481V Missense 9/15 - 1
3-41275278-C-A c.1444C>A p.Q482K Missense 9/15 - 2
3-41275278-C-G c.1444C>G p.Q482E Missense 9/15 - 1
3-41275278-C-T c.1444C>T p.Q482* Nonsense 9/15 - 1
3-41275280-G-A c.1446G>A p.Q482= Synonymous 9/15 - 1
3-41275280-G-C c.1446G>C p.Q482H Missense 9/15 - 1
3-41275280-G-T c.1446G>T p.Q482H Missense 9/15 - 1
3-41275284-G-A c.1450G>A p.A484T Missense 9/15 - 1
3-41275285-C-T c.1451C>T p.A484V Missense 9/15 - 1
3-41275286-A-C c.1452A>C p.A484= Synonymous 9/15 - 1
3-41275287-G-C c.1453G>C p.V485L Missense 9/15 - 1
3-41275288-T-G c.1454T>G p.V485G Missense 9/15 - 1
3-41275290-C-G c.1456C>G p.R486G Missense 9/15 - 1
3-41275290-C-T c.1456C>T p.R486C Missense 9/15 - 11
3-41275291-G-A c.1457G>A p.R486H Missense 9/15 - 10
3-41275291-G-T c.1457G>T p.R486L Missense 9/15 - 1
3-41275293-C-T c.1459C>T p.L487F Missense 9/15 - 1
3-41275295-T-A c.1461T>A p.L487= Synonymous 9/15 - 1
3-41275295-T-C c.1461T>C p.L487= Synonymous 9/15 - 1
3-41275295-T-G c.1461T>G p.L487= Synonymous 9/15 - 1
3-41275296-TC-T c.1462del p.H488Tfs*19 Frameshift 9/15 - 1
3-41275298-C-G c.1464C>G p.H488Q Missense 9/15 - 1
3-41275299-T-C c.1465T>C p.Y489H Missense 9/15 - 1
3-41275300-A-G c.1466A>G p.Y489C Missense 9/15 - 2
3-41275301-T-C c.1467T>C p.Y489= Synonymous 9/15 - 1
3-41275305-C-T c.1471C>T p.L491= Synonymous 9/15 - 1
3-41275305-CTA-TTT c.1471_1473delinsTTT p.L491F Missense 9/15 - 1
3-41275306-T-A c.1472T>A p.L491Q Missense 9/15 - 1
3-41275308-C-T c.1474C>T p.P492S Missense 9/15 - 1
3-41275310-A-T c.1476A>T p.P492= Synonymous 9/15 - 1
3-41275311-GTT-ATG c.1477_1479delinsATG p.V493M Missense 9/15 - 1
3-41275315-T-A c.1481T>A p.V494E Missense 9/15 - 1
3-41275315-T-C c.1481T>C p.V494A Missense 9/15 - 1
3-41275316-G-A c.1482G>A p.V494= Synonymous 9/15 - 1
3-41275316-G-C c.1482G>C p.V494= Synonymous 9/15 - 1
3-41275316-G-T c.1482G>T p.V494= Synonymous 9/15 - 1
3-41275318-T-G c.1484T>G p.V495G Missense 9/15 - 1
3-41275320-A-T c.1486A>T p.K496* Nonsense 9/15 - 1
3-41275321-A-C c.1487A>C p.K496T Missense 9/15 - 1
3-41275320-AAGCTCTT-A c.1488_1494del p.K496Nfs*9 Frameshift 9/15 - 1
3-41275322-G-C c.1488G>C p.K496N Missense 9/15 - 1
3-41275326-T-G c.1492T>G p.L498V Missense 9/15 - 1
3-41275327-T-TA c.1494dup p.H499Tfs*31 Frameshift 9/15 - 3
3-41275328-A-C c.1494A>C p.L498F Missense 9/15 - 1
3-41275328-A-T c.1494A>T p.L498F Missense 9/15 - 1
3-41275329-C-A c.1495C>A p.H499N Missense 9/15 - 1
3-41275329-C-T c.1495C>T p.H499Y Missense 9/15 - 2
3-41275330-A-C c.1496A>C p.H499P Missense 9/15 - 2
3-41275332-C-G c.1498C>G p.P500A Missense 9/15 - 1
3-41275333-C-A c.1499C>A p.P500Q Missense 9/15 - 1
3-41275333-C-T c.1499C>T p.P500L Missense 9/15 - 1
3-41275334-CA-C c.1500del p.P501Hfs*6 Frameshift 9/15 - 1
3-41275335-C-T c.1501C>T p.P501S Missense 9/15 - 3
3-41275338-T-A c.1504T>A p.S502T Missense 9/15 - 1
3-41275338-T-C c.1504T>C p.S502P Missense 9/15 - 1
3-41275338-T-G c.1504T>G p.S502A Missense 9/15 - 1
3-41275339-C-T c.1505C>T p.S502F Missense 9/15 - 2
3-41275340-C-T c.1506C>T p.S502= Synonymous 9/15 - 1
3-41275342-A-G c.1508A>G p.H503R Missense 9/15 - 1
3-41275344-TG-GC c.1510_1511delinsGC p.W504A Missense 9/15 - 2
3-41275345-G-A c.1511G>A p.W504* Nonsense 9/15 - 7
3-41275346-G-A c.1512G>A p.W504* Nonsense 9/15 - 12
3-41275347-C-A c.1513C>A p.P505T Missense 9/15 - 1
3-41275347-C-G c.1513C>G p.P505A Missense 9/15 - 1
3-41275347-C-T c.1513C>T p.P505S Missense 9/15 - 2
3-41275348-C-G c.1514C>G p.P505R Missense 9/15 - 2
3-41275350-C-T c.1516C>T p.L506= Synonymous 9/15 - 4
3-41275351-T-C c.1517T>C p.L506P Missense 9/15 - 2
3-41275352-G-A c.1518G>A p.L506= Synonymous 9/15 - 1
3-41275352-G-C c.1518G>C p.L506= Synonymous 9/15 - 1
3-41275352-G-T c.1518G>T p.L506= Synonymous 9/15 - 1
3-41275353-AT-GC c.1519_1520delinsGC p.I507A Missense 9/15 - 1
3-41275354-T-C c.1520T>C p.I507T Missense 9/15 - 1
3-41275355-A-AT c.1521_1522insT p.K508* Nonsense 9/15 - 1
3-41275355-A-G c.1521A>G p.I507M Missense 9/15 - 1
3-41275356-AA-GC c.1522_1523delinsGC p.K508A Missense 9/15 - 1
3-41275356-A-C c.1522A>C p.K508Q Missense 9/15 - 1
3-41275354-TA-T c.1523del p.K508Rfs*6 Frameshift 9/15 - 1
3-41275357-A-G c.1523A>G p.K508R Missense 9/15 - 1
3-41275358-G-A c.1524G>A p.K508= Synonymous 9/15 - 1
3-41275360-T-A c.1524+2T>A - IntronicSNV - 9/14 2
3-41275360-T-C c.1524+2T>C - IntronicSNV - 9/14 1
3-41275361-A-G c.1524+3A>G - IntronicSNV - 9/14 1
3-41275364-T-C c.1524+6T>C - IntronicSNV - 9/14 1
3-41275393-G-A c.1524+35G>A - IntronicSNV - 9/14 2
3-41275421-T-C c.1524+63T>C - IntronicSNV - 9/14 1
3-41275492-G-A c.1524+134G>A - IntronicSNV - 9/14 1
3-41275596-G-C c.1525-34G>C - IntronicSNV - 9/14 1
3-41275630-G-A c.1525G>A p.A509T Missense 10/15 - 1
3-41275630-G-C c.1525G>C p.A509P Missense 10/15 - 1
3-41275631-C-A c.1526C>A p.A509D Missense 10/15 - 1
3-41275631-C-T c.1526C>T p.A509V Missense 10/15 - 1
3-41275633-A-C c.1528A>C p.T510P Missense 10/15 - 1
3-41275634-C-A c.1529C>A p.T510N Missense 10/15 - 1
3-41275634-C-CT c.1530dup p.V511Cfs*19 Frameshift 10/15 - 2
3-41275636-G-A c.1531G>A p.V511I Missense 10/15 - 1
3-41275636-G-T c.1531G>T p.V511F Missense 10/15 - 1
3-41275636-GT-TG c.1531_1532delinsTG p.V511C Missense 10/15 - 1
3-41275636-GTT-TAA c.1531_1533delinsTAA p.V511* Nonsense 10/15 - 1
3-41275637-T-C c.1532T>C p.V511A Missense 10/15 - 1
3-41275638-T-A c.1533T>A p.V511= Synonymous 10/15 - 1
3-41275638-T-C c.1533T>C p.V511= Synonymous 10/15 - 1
3-41275638-T-G c.1533T>G p.V511= Synonymous 10/15 - 1
3-41275639-GGA-AGC c.1534_1536delinsAGC p.G512S Missense 10/15 - 1
3-41275639-G-T c.1534G>T p.G512* Nonsense 10/15 - 1
3-41275640-G-A c.1535G>A p.G512E Missense 10/15 - 2
3-41275640-G-T c.1535G>T p.G512V Missense 10/15 - 2
3-41275641-A-C c.1536A>C p.G512= Synonymous 10/15 - 1
3-41275641-A-G c.1536A>G p.G512= Synonymous 10/15 - 1
3-41275641-A-T c.1536A>T p.G512= Synonymous 10/15 - 1
3-41275642-T-G c.1537T>G p.L513V Missense 10/15 - 1
3-41275642-TTG-ATC c.1537_1539delinsATC p.L513I Missense 10/15 - 1
3-41275641-AT-A c.1538del p.L513* Frameshift 10/15 - 1
3-41275644-G-C c.1539G>C p.L513F Missense 10/15 - 2
3-41275644-G-T c.1539G>T p.L513F Missense 10/15 - 2
3-41275646-T-C c.1541T>C p.I514T Missense 10/15 - 1
3-41275648-CGA-TGG c.1543_1545delinsTGG p.R515W Missense 10/15 - 1
3-41275648-C-T c.1543C>T p.R515* Nonsense 10/15 - 18
3-41275649-G-A c.1544G>A p.R515Q Missense 10/15 - 14
3-41275654-C-A c.1549C>A p.L517I Missense 10/15 - 1
3-41275654-C-T c.1549C>T p.L517F Missense 10/15 - 8
3-41275649-GAAATCTTGCCCTTTGTCCCGC-G c.1550_1570del p.L517_N523del InFrameDeletion 10/15 - 1
3-41275658-C-T c.1553C>T p.A518V Missense 10/15 - 1
3-41275657-GCC-G c.1554_1555del p.C520Sfs*9 Frameshift 10/15 - 1
3-41275659-C-T c.1554C>T p.A518= Synonymous 10/15 - 1
3-41275657-G-GC c.1555dup p.L519Pfs*11 Frameshift 10/15 - 1
3-41275660-C-A c.1555C>A p.L519I Missense 10/15 - 2
3-41275660-C-G c.1555C>G p.L519V Missense 10/15 - 1
3-41275660-C-T c.1555C>T p.L519F Missense 10/15 - 1
3-41275663-T-A c.1558T>A p.C520S Missense 10/15 - 1
3-41275663-T-C c.1558T>C p.C520R Missense 10/15 - 1
3-41275664-G-C c.1559G>C p.C520S Missense 10/15 - 1
3-41275664-G-A c.1559G>A p.C520Y Missense 10/15 - 1
3-41275666-C-T c.1561C>T p.P521S Missense 10/15 - 3
3-41275667-C-T c.1562C>T p.P521L Missense 10/15 - 1
3-41275669-G-A c.1564G>A p.A522T Missense 10/15 - 12
3-41275670-C-G c.1565C>G p.A522G Missense 10/15 - 1
3-41275670-C-CA c.1568dup p.N523Kfs*7 Frameshift 10/15 - 2
3-41275673-A-G c.1568A>G p.N523S Missense 10/15 - 1
3-41275675-C-A c.1570C>A p.H524N Missense 10/15 - 1
3-41275679-C-T c.1574C>T p.A525V Missense 10/15 - 3
3-41275678-GCA-G c.1575_1576del p.P526Ffs*3 Frameshift 10/15 - 1
3-41275680-A-C c.1575A>C p.A525= Synonymous 10/15 - 1
3-41275680-A-G c.1575A>G p.A525= Synonymous 10/15 - 1
3-41275680-A-T c.1575A>T p.A525= Synonymous 10/15 - 1
3-41275681-C-T c.1576C>T p.P526S Missense 10/15 - 1
3-41275682-C-T c.1577C>T p.P526L Missense 10/15 - 1
3-41275683-T-A c.1578T>A p.P526= Synonymous 10/15 - 2
3-41275683-T-C c.1578T>C p.P526= Synonymous 10/15 - 3
3-41275683-T-G c.1578T>G p.P526= Synonymous 10/15 - 2
3-41275685-T-A c.1580T>A p.L527* Nonsense 10/15 - 3
3-41275686-G-T c.1581G>T p.L527F Missense 10/15 - 1
3-41275687-C-G c.1582C>G p.R528G Missense 10/15 - 1
3-41275687-CGT-TGA c.1582_1584delinsTGA p.R528* Nonsense 10/15 - 2
3-41275687-C-T c.1582C>T p.R528C Missense 10/15 - 11
3-41275688-G-A c.1583G>A p.R528H Missense 10/15 - 9
3-41275688-GT-AA c.1583_1584delinsAA p.R528Q Missense 10/15 - 2
3-41275690-G-A c.1585G>A p.E529K Missense 10/15 - 1
3-41275690-G-T c.1585G>T p.E529* Nonsense 10/15 - 1
3-41275692-G-A c.1587G>A p.E529= Synonymous 10/15 - 1
3-41275693-C-A c.1588C>A p.Q530K Missense 10/15 - 1
3-41275693-C-T c.1588C>T p.Q530* Nonsense 10/15 - 2
3-41275696-G-C c.1591G>C p.G531R Missense 10/15 - 1
3-41275697-G-A c.1592G>A p.G531D Missense 10/15 - 1
3-41275698-T-A c.1593T>A p.G531= Synonymous 10/15 - 1
3-41275698-T-C c.1593T>C p.G531= Synonymous 10/15 - 1
3-41275698-T-G c.1593T>G p.G531= Synonymous 10/15 - 1
3-41275699-TG-T c.1594del p.A532Pfs*5 Frameshift 10/15 - 1
3-41275700-C-T c.1595C>T p.A532V Missense 10/15 - 5
3-41275701-C-A c.1596C>A p.A532= Synonymous 10/15 - 1
3-41275701-C-G c.1596C>G p.A532= Synonymous 10/15 - 1
3-41275701-C-T c.1596C>T p.A532= Synonymous 10/15 - 1
3-41275702-A-T c.1597A>T p.I533F Missense 10/15 - 1
3-41275705-C-T c.1600C>T p.P534S Missense 10/15 - 1
3-41275706-C-G c.1601C>G p.P534R Missense 10/15 - 1
3-41275706-C-T c.1601C>T p.P534L Missense 10/15 - 3
3-41275707-CA-C c.1602del p.R535Dfs*2 Frameshift 10/15 - 1
3-41275708-CGA-TGT c.1603_1605delinsTGT p.R535C Missense 10/15 - 1
3-41275708-C-T c.1603C>T p.R535* Nonsense 10/15 - 24
3-41275709-G-A c.1604G>A p.R535Q Missense 10/15 - 12
3-41275709-G-C c.1604G>C p.R535P Missense 10/15 - 1
3-41275712-T-C c.1607T>C p.L536P Missense 10/15 - 1
3-41275712-T-G c.1607T>G p.L536R Missense 10/15 - 1
3-41275711-C-T c.1606C>T p.L536= Synonymous 10/15 - 3
3-41275713-A-C c.1608A>C p.L536= Synonymous 10/15 - 3
3-41275713-A-G c.1608A>G p.L536= Synonymous 10/15 - 3
3-41275713-A-T c.1608A>T p.L536= Synonymous 10/15 - 4
3-41275714-G-A c.1609G>A p.V537I Missense 10/15 - 1
3-41275716-T-A c.1611T>A p.V537= Synonymous 10/15 - 1
3-41275716-T-C c.1611T>C p.V537= Synonymous 10/15 - 1
3-41275716-T-G c.1611T>G p.V537= Synonymous 10/15 - 1
3-41275717-C-A c.1612C>A p.Q538K Missense 10/15 - 2
3-41275717-C-T c.1612C>T p.Q538* Nonsense 10/15 - 8
3-41275720-T-C c.1615T>C p.L539= Synonymous 10/15 - 1
3-41275722-G-A c.1617G>A p.L539= Synonymous 10/15 - 1
3-41275723-C-G c.1618C>G p.L540V Missense 10/15 - 1
3-41275726-G-A c.1621G>A p.V541I Missense 10/15 - 2
3-41275727-T-C c.1622T>C p.V541A Missense 10/15 - 1
3-41275729-C-T c.1624C>T p.R542C Missense 10/15 - 9
3-41275730-G-A c.1625G>A p.R542H Missense 10/15 - 9
3-41275732-G-GC c.1628dup p.H544Tfs*28 Frameshift 10/15 - 1
3-41275733-C-A c.1628C>A p.A543E Missense 10/15 - 1
3-41275733-C-T c.1628C>T p.A543V Missense 10/15 - 2
3-41275736-A-G c.1631A>G p.H544R Missense 10/15 - 1
3-41275738-C-T c.1633C>T p.Q545* Nonsense 10/15 - 8
3-41275740-G-A c.1635G>A p.Q545= Synonymous 10/15 - 1
3-41275740-G-T c.1635G>T p.Q545H Missense 10/15 - 1
3-41275741-G-A c.1636G>A p.D546N Missense 10/15 - 1
3-41275742-A-G c.1637A>G p.D546G Missense 10/15 - 2
3-41275742-A-T c.1637A>T p.D546V Missense 10/15 - 1
3-41275743-T-A c.1638T>A p.D546E Missense 10/15 - 1
3-41275743-T-G c.1638T>G p.D546E Missense 10/15 - 2
3-41275745-C-T c.1640C>T p.T547I Missense 10/15 - 1
3-41275746-CCCA-C c.1641_1643del p.Q548del InFrameDeletion 10/15 - 1
3-41275747-C-T c.1642C>T p.Q548* Nonsense 10/15 - 1
3-41275749-G-A c.1644G>A p.Q548= Synonymous 10/15 - 1
3-41275750-CG-AC c.1645_1646delinsAC p.R549T Missense 10/15 - 1
3-41275750-CGC-TGA c.1645_1647delinsTGA p.R549* Nonsense 10/15 - 1
3-41275750-CGC-TGG c.1645_1647delinsTGG p.R549W Missense 10/15 - 1
3-41275750-C-T c.1645C>T p.R549C Missense 10/15 - 4
3-41275751-G-A c.1646G>A p.R549H Missense 10/15 - 3
3-41275753-CGT-TGG c.1648_1650delinsTGG p.R550W Missense 10/15 - 1
3-41275753-C-T c.1648C>T p.R550C Missense 10/15 - 2
3-41275754-G-A c.1649G>A p.R550H Missense 10/15 - 2
3-41275754-G-T c.1649G>T p.R550L Missense 10/15 - 2
3-41275756-AC-TA c.1651_1652delinsTA p.T551* Nonsense 10/15 - 1
3-41275757-C-A c.1652C>A p.T551K Missense 10/15 - 2
3-41275757-C-T c.1652C>T p.T551M Missense 10/15 - 14
3-41275758-G-A c.1653G>A p.T551= Synonymous 10/15 - 1
3-41275758-G-C c.1653G>C p.T551= Synonymous 10/15 - 1
3-41275758-G-T c.1653G>T p.T551= Synonymous 10/15 - 1
3-41275759-TC-CG c.1654_1655delinsCG p.S552R Missense 10/15 - 1
3-41275759-TC-GA c.1654_1655inv p.S552D Missense 10/15 - 3
3-41275759-T-G c.1654T>G p.S552A Missense 10/15 - 7
3-41275760-CC-AA c.1655_1656delinsAA p.S552* Nonsense 10/15 - 1
3-41275760-C-T c.1655C>T p.S552F Missense 10/15 - 2
3-41275761-C-A c.1656C>A p.S552= Synonymous 10/15 - 1
3-41275761-C-G c.1656C>G p.S552= Synonymous 10/15 - 1
3-41275761-C-T c.1656C>T p.S552= Synonymous 10/15 - 1
3-41275762-A-G c.1657A>G p.M553V Missense 10/15 - 11
3-41275763-T-A c.1658T>A p.M553K Missense 10/15 - 1
3-41275764-G-A c.1659G>A p.M553I Missense 10/15 - 1
3-41275769-G-A c.1664G>A p.G555E Missense 10/15 - 1
3-41275769-G-C c.1664G>C p.G555A Missense 10/15 - 7
3-41275767-TG-T c.1665del p.T556Hfs*14 Frameshift 10/15 - 2
3-41275767-T-TG c.1665dup p.T556Dfs*16 Frameshift 10/15 - 2
3-41275771-A-C c.1666A>C p.T556P Missense 10/15 - 2
3-41275774-AC-A c.1669del p.Q557Sfs*13 Frameshift 10/15 - 1
3-41275774-C-G c.1669C>G p.Q557E Missense 10/15 - 1
3-41275774-C-T c.1669C>T p.Q557* Nonsense 10/15 - 1
3-41275775-A-G c.1670A>G p.Q557R Missense 10/15 - 1
3-41275777-C-T c.1672C>T p.Q558* Nonsense 10/15 - 5
3-41275779-G-C c.1674G>C p.Q558H Missense 10/15 - 1
3-41275779-G-T c.1674G>T p.Q558H Missense 10/15 - 1
3-41275780-C-T c.1675C>T p.Q559* Nonsense 10/15 - 2
3-41275781-A-G c.1676A>G p.Q559R Missense 10/15 - 1
3-41275780-CA-C c.1677del p.Q559Hfs*11 Frameshift 10/15 - 1
3-41275783-T-A c.1678T>A p.F560I Missense 10/15 - 1
3-41275783-T-C c.1678T>C p.F560L Missense 10/15 - 1
3-41275783-TT-AA c.1678_1679inv p.F560N Missense 10/15 - 1
3-41275785-T-A c.1680T>A p.F560L Missense 10/15 - 1
3-41275785-T-G c.1680T>G p.F560L Missense 10/15 - 1
3-41275785-T-C c.1680T>C p.F560= Synonymous 10/15 - 1
3-41275785-T-TG c.1681dup p.V561Gfs*11 SpliceDonorInsertion 10/15 - 1
3-41275786-G-T c.1681G>T p.V561L Missense 10/15 - 1
3-41275787-T-C c.1682T>C p.V561A Missense 10/15 - 1
3-41275787-TG-AC c.1682_1683delinsAC p.V561D Missense 10/15 - 1
3-41275788-G-C c.1683G>C p.V561= Synonymous 10/15 - 1
3-41275790-T-C c.1683+2T>C - IntronicSNV - 10/14 1
3-41275791-A-G c.1683+3A>G - IntronicSNV - 10/14 1
3-41275805-A-G c.1683+17A>G - IntronicSNV - 10/14 4
3-41275823-A-G c.1683+35A>G - IntronicSNV - 10/14 1
3-41275876-T-TC c.1683+94dup - IntronicInsertion - 10/14 1
3-41276166-A-T c.1683+378A>T - IntronicSNV - 10/14 2
3-41276407-A-G c.1683+619A>G - IntronicSNV - 10/14 1
3-41277040-C-T c.1684-175C>T - IntronicSNV - 10/14 9
3-41277213-A-AG c.1684dup p.E562Gfs*10 SpliceAcceptorInsertion 11/15 - 3
3-41277215-G-A c.1684G>A p.E562K Missense 11/15 - 1
3-41277216-A-G c.1685A>G p.E562G Missense 11/15 - 2
3-41277218-G-A c.1687G>A p.G563R Missense 11/15 - 1
3-41277218-G-C c.1687G>C p.G563R Missense 11/15 - 1
3-41277219-G-A c.1688G>A p.G563E Missense 11/15 - 1
3-41277216-A-AG c.1690dup p.V564Gfs*8 Frameshift 11/15 - 1
3-41277216-AG-A c.1690del p.V564Sfs*6 Frameshift 11/15 - 5
3-41277222-T-G c.1691T>G p.V564G Missense 11/15 - 1
3-41277224-C-G c.1693C>G p.R565G Missense 11/15 - 3
3-41277224-CGC-TGG c.1693_1695delinsTGG p.R565W Missense 11/15 - 1
3-41277224-C-T c.1693C>T p.R565C Missense 11/15 - 8
3-41277225-G-A c.1694G>A p.R565H Missense 11/15 - 7
3-41277225-G-T c.1694G>T p.R565L Missense 11/15 - 1
3-41277227-A-AT c.1697dup p.M566Ifs*6 Frameshift 11/15 - 1
3-41277228-T-C c.1697T>C p.M566T Missense 11/15 - 2
3-41277229-TGGA-T c.1698_1700del p.M566_E567delinsI MultiAAMissense 11/15 - 1
3-41277230-G-A c.1699G>A p.E567K Missense 11/15 - 2
3-41277230-G-T c.1699G>T p.E567* Nonsense 11/15 - 2
3-41277233-G-A c.1702G>A p.E568K Missense 11/15 - 8
3-41277233-G-T c.1702G>T p.E568* Nonsense 11/15 - 1
3-41277234-A-G c.1703A>G p.E568G Missense 11/15 - 1
3-41277235-AAT-A c.1706_1707del p.I569Sfs*2 Frameshift 11/15 - 1
3-41277237-T-A c.1706T>A p.I569K Missense 11/15 - 1
3-41277237-T-C c.1706T>C p.I569T Missense 11/15 - 1
3-41277237-T-G c.1706T>G p.I569R Missense 11/15 - 1
3-41277238-A-G c.1707A>G p.I569M Missense 11/15 - 1
3-41277238-TAGTTGAAGGTTGTACCGGAGCCCTTCACATCCTAGCTCGGGATGTTCACAACCGAATTG-T c.1707_1765del p.V570Yfs*19 InFrameDeletion 11/15 - 1
3-41277238-TA-T c.1707del p.I569Mfs*12 Frameshift 11/15 - 1
3-41277239-G-A c.1708G>A p.V570I Missense 11/15 - 1
3-41277240-T-G c.1709T>G p.V570G Missense 11/15 - 1
3-41277242-G-T c.1711G>T p.E571* Nonsense 11/15 - 2
3-41277244-A-G c.1713A>G p.E571= Synonymous 11/15 - 2
3-41277245-G-T c.1714G>T p.G572C Missense 11/15 - 2
3-41277246-G-T c.1715G>T p.G572V Missense 11/15 - 1
3-41277248-T-C c.1717T>C p.C573R Missense 11/15 - 1
3-41277249-G-C c.1718G>C p.C573S Missense 11/15 - 1
3-41277249-G-T c.1718G>T p.C573F Missense 11/15 - 1
3-41277250-T-C c.1719T>C p.C573= Synonymous 11/15 - 1
3-41277251-A-G c.1720A>G p.T574A Missense 11/15 - 1
3-41277251-TACC-T c.1720_1722del p.T574del InFrameDeletion 11/15 - 1
3-41277253-C-A c.1722C>A p.T574= Synonymous 11/15 - 4
3-41277253-C-G c.1722C>G p.T574= Synonymous 11/15 - 1
3-41277253-C-T c.1722C>T p.T574= Synonymous 11/15 - 3
3-41277254-G-A c.1723G>A p.G575R Missense 11/15 - 16
3-41277254-G-C c.1723G>C p.G575R Missense 11/15 - 7
3-41277254-GGA-AGC c.1723_1725delinsAGC p.G575S Missense 11/15 - 1
3-41277254-G-T c.1723G>T p.G575* Nonsense 11/15 - 1
3-41277255-G-C c.1724G>C p.G575A Missense 11/15 - 1
3-41277256-A-C c.1725A>C p.G575= Synonymous 11/15 - 1
3-41277256-A-G c.1725A>G p.G575= Synonymous 11/15 - 1
3-41277256-A-T c.1725A>T p.G575= Synonymous 11/15 - 1
3-41277257-G-A c.1726G>A p.A576T Missense 11/15 - 1
3-41277258-C-T c.1727C>T p.A576V Missense 11/15 - 1
3-41277259-C-A c.1728C>A p.A576= Synonymous 11/15 - 1
3-41277259-C-G c.1728C>G p.A576= Synonymous 11/15 - 1
3-41277259-C-T c.1728C>T p.A576= Synonymous 11/15 - 1
3-41277260-C-A c.1729C>A p.L577I Missense 11/15 - 1
3-41277260-C-G c.1729C>G p.L577V Missense 11/15 - 2
3-41277260-C-T c.1729C>T p.L577F Missense 11/15 - 1
3-41277259-CCTT-C c.1730_1732del p.L577del InFrameDeletion 11/15 - 1
3-41277261-T-A c.1730T>A p.L577H Missense 11/15 - 1
3-41277262-T-TA c.1731_1732insA p.H578Tfs*31 Frameshift 11/15 - 1
3-41277263-C-T c.1732C>T p.H578Y Missense 11/15 - 1
3-41277264-A-G c.1733A>G p.H578R Missense 11/15 - 4
3-41277264-A-T c.1733A>T p.H578L Missense 11/15 - 1
3-41277267-T-C c.1736T>C p.I579T Missense 11/15 - 1
3-41277268-C-A c.1737C>A p.I579= Synonymous 11/15 - 1
3-41277268-C-T c.1737C>T p.I579= Synonymous 11/15 - 3
3-41277269-C-A c.1738C>A p.L580I Missense 11/15 - 2
3-41277269-C-T c.1738C>T p.L580= Synonymous 11/15 - 1
3-41277268-CCTAG-C c.1740_1743del p.A581Gfs*12 Frameshift 11/15 - 1
3-41277272-G-A c.1741G>A p.A581T Missense 11/15 - 2
3-41277275-C-T c.1744C>T p.R582W Missense 11/15 - 17
3-41277276-G-A c.1745G>A p.R582Q Missense 11/15 - 16
3-41277276-GG-AT c.1745_1746delinsAT p.R582H Missense 11/15 - 1
3-41277276-G-T c.1745G>T p.R582L Missense 11/15 - 4
3-41277278-G-A c.1747G>A p.D583N Missense 11/15 - 2
3-41277279-A-T c.1748A>T p.D583V Missense 11/15 - 1
3-41277281-G-A c.1750G>A p.V584I Missense 11/15 - 1
3-41277281-G-T c.1750G>T p.V584F Missense 11/15 - 1
3-41277283-T-A c.1752T>A p.V584= Synonymous 11/15 - 2
3-41277283-T-C c.1752T>C p.V584= Synonymous 11/15 - 1
3-41277283-T-G c.1752T>G p.V584= Synonymous 11/15 - 1
3-41277284-C-T c.1753C>T p.H585Y Missense 11/15 - 2
3-41277287-A-G c.1756A>G p.N586D Missense 11/15 - 1
3-41277290-C-A c.1759C>A p.R587= Synonymous 11/15 - 1
3-41277290-CGA-ATG c.1759_1761delinsATG p.R587M Missense 11/15 - 1
3-41277290-CGA-TGT c.1759_1761delinsTGT p.R587C Missense 11/15 - 2
3-41277290-C-T c.1759C>T p.R587* Nonsense 11/15 - 9
3-41277292-A-C c.1761A>C p.R587= Synonymous 11/15 - 1
3-41277292-A-G c.1761A>G p.R587= Synonymous 11/15 - 1
3-41277292-A-T c.1761A>T p.R587= Synonymous 11/15 - 1
3-41277291-CGA-C c.1760_1761del p.R587Hfs*21 Frameshift 11/15 - 1
3-41277291-G-A c.1760G>A p.R587Q Missense 11/15 - 26
3-41277291-G-C c.1760G>C p.R587P Missense 11/15 - 2
3-41277291-GA-G c.1762del p.I588Lfs*6 Frameshift 11/15 - 1
3-41277296-G-A c.1765G>A p.V589I Missense 11/15 - 1
3-41277298-T-TA c.1768dup p.I590Nfs*19 Frameshift 11/15 - 1
3-41277300-T-A c.1769T>A p.I590N Missense 11/15 - 1
3-41277301-C-A c.1770C>A p.I590= Synonymous 11/15 - 1
3-41277301-C-T c.1770C>T p.I590= Synonymous 11/15 - 1
3-41277302-A-G c.1771A>G p.R591G Missense 11/15 - 1
3-41277303-G-A c.1772G>A p.R591K Missense 11/15 - 2
3-41277305-G-A c.1774G>A p.G592R Missense 11/15 - 1
3-41277305-G-T c.1774G>T p.G592* Nonsense 11/15 - 2
3-41277310-A-G c.1779A>G p.L593= Synonymous 11/15 - 1
3-41277315-C-T c.1784C>T p.T595I Missense 11/15 - 6
3-41277320-C-T c.1789C>T p.P597S Missense 11/15 - 5
3-41277321-C-A c.1790C>A p.P597Q Missense 11/15 - 4
3-41277321-C-T c.1790C>T p.P597L Missense 11/15 - 1
3-41277323-T-G c.1792T>G p.L598V Missense 11/15 - 1
3-41277326-T-C c.1795T>C p.F599L Missense 11/15 - 1
3-41277327-T-G c.1796T>G p.F599C Missense 11/15 - 1
3-41277329-G-A c.1798G>A p.V600M Missense 11/15 - 1
3-41277329-G-C c.1798G>C p.V600L Missense 11/15 - 1
3-41277329-G-T c.1798G>T p.V600L Missense 11/15 - 4
3-41277329-GT-AA c.1798_1799delinsAA p.V600K Missense 11/15 - 6
3-41277329-GT-AG c.1798_1799delinsAG p.V600R Missense 11/15 - 3
3-41277330-T-A c.1799T>A p.V600E Missense 11/15 - 89
3-41277330-T-C c.1799T>C p.V600A Missense 11/15 - 1
3-41277330-T-G c.1799T>G p.V600G Missense 11/15 - 7
3-41277330-TG-AC c.1799_1800delinsAC p.V600D Missense 11/15 - 1
3-41277331-G-A c.1800G>A p.V600= Synonymous 11/15 - 1
3-41277331-G-C c.1800G>C p.V600= Synonymous 11/15 - 1
3-41277331-G-T c.1800G>T p.V600= Synonymous 11/15 - 2
3-41277332-C-T c.1801C>T p.Q601* Nonsense 11/15 - 8
3-41277335-G-A c.1803+1G>A - IntronicSNV - 11/14 1
3-41277335-G-C c.1803+1G>C - IntronicSNV - 11/14 1
3-41277342-T-C c.1803+8T>C - IntronicSNV - 11/14 1
3-41277354-T-C c.1803+20T>C - IntronicSNV - 11/14 1
3-41277840-C-T c.1804C>T p.L602= Synonymous 12/15 - 1
3-41277843-CTT-TGG c.1807_1809delinsTGG p.L603W Missense 12/15 - 1
3-41277844-T-G c.1808T>G p.L603R Missense 12/15 - 1
3-41277846-TAT-GAG c.1810_1812delinsGAG p.Y604E Missense 12/15 - 1
3-41277847-A-T c.1811A>T p.Y604F Missense 12/15 - 1
3-41277849-T-C c.1813T>C p.S605P Missense 12/15 - 1
3-41277849-TC-GA c.1813_1814inv p.S605D Missense 12/15 - 1
3-41277849-T-G c.1813T>G p.S605A Missense 12/15 - 2
3-41277850-C-T c.1814C>T p.S605F Missense 12/15 - 3
3-41277852-C-G c.1816C>G p.P606A Missense 12/15 - 2
3-41277853-C-T c.1817C>T p.P606L Missense 12/15 - 10
3-41277855-A-G c.1819A>G p.I607V Missense 12/15 - 1
3-41277855-AT-A c.1821del p.I607Mfs*7 Frameshift 12/15 - 1
3-41277858-G-T c.1822G>T p.E608* Nonsense 12/15 - 2
3-41277859-A-G c.1823A>G p.E608G Missense 12/15 - 1
3-41277861-A-G c.1825A>G p.N609D Missense 12/15 - 1
3-41277863-C-T c.1827C>T p.N609= Synonymous 12/15 - 1
3-41277864-A-G c.1828A>G p.I610V Missense 12/15 - 1
3-41277864-A-T c.1828A>T p.I610F Missense 12/15 - 1
3-41277866-C-A c.1830C>A p.I610= Synonymous 12/15 - 1
3-41277866-C-G c.1830C>G p.I610M Missense 12/15 - 1
3-41277866-C-T c.1830C>T p.I610= Synonymous 12/15 - 2
3-41277871-G-A c.1835G>A p.R612K Missense 12/15 - 1
3-41277871-G-C c.1835G>C p.R612T Missense 12/15 - 3
3-41277870-A-C c.1834A>C p.R612= Synonymous 12/15 - 1
3-41277872-A-G c.1836A>G p.R612= Synonymous 12/15 - 1
3-41277873-G-A c.1837G>A p.V613I Missense 12/15 - 2
3-41277873-G-C c.1837G>C p.V613L Missense 12/15 - 1
3-41277873-G-T c.1837G>T p.V613L Missense 12/15 - 1
3-41277873-GTA-ATG c.1837_1839delinsATG p.V613M Missense 12/15 - 1
3-41277874-T-C c.1838T>C p.V613A Missense 12/15 - 1
3-41277876-G-A c.1840G>A p.A614T Missense 12/15 - 2
3-41277877-C-A c.1841C>A p.A614D Missense 12/15 - 1
3-41277877-C-T c.1841C>T p.A614V Missense 12/15 - 1
3-41277878-T-TG c.1843dup p.A615Gfs*6 Frameshift 12/15 - 1
3-41277880-C-A c.1844C>A p.A615E Missense 12/15 - 1
3-41277880-C-T c.1844C>T p.A615V Missense 12/15 - 2
3-41277881-A-C c.1845A>C p.A615= Synonymous 12/15 - 1
3-41277881-A-G c.1845A>G p.A615= Synonymous 12/15 - 1
3-41277881-A-T c.1845A>T p.A615= Synonymous 12/15 - 1
3-41277882-G-T c.1846G>T p.G616W Missense 12/15 - 1
3-41277883-G-A c.1847G>A p.G616E Missense 12/15 - 2
3-41277885-G-A c.1849G>A p.V617I Missense 12/15 - 2
3-41277885-G-T c.1849G>T p.V617F Missense 12/15 - 8
3-41277885-GTC-ATG c.1849_1851delinsATG p.V617M Missense 12/15 - 1
3-41277888-C-G c.1852C>G p.L618V Missense 12/15 - 1
3-41277888-C-T c.1852C>T p.L618F Missense 12/15 - 2
3-41277888-CTC-TGG c.1852_1854delinsTGG p.L618W Missense 12/15 - 1
3-41277888-C-CT c.1853dup p.C619Lfs*2 Frameshift 12/15 - 1
3-41277890-C-T c.1854C>T p.L618= Synonymous 12/15 - 2
3-41277891-T-C c.1855T>C p.C619R Missense 12/15 - 3
3-41277892-G-A c.1856G>A p.C619Y Missense 12/15 - 13
3-41277892-G-T c.1856G>T p.C619F Missense 12/15 - 1
3-41277890-CTG-C c.1857_1858del p.C619* Frameshift 12/15 - 1
3-41277893-T-C c.1857T>C p.C619= Synonymous 12/15 - 1
3-41277894-G-A c.1858G>A p.E620K Missense 12/15 - 1
3-41277894-G-T c.1858G>T p.E620* Nonsense 12/15 - 1
3-41277897-C-A c.1861C>A p.L621I Missense 12/15 - 1
3-41277898-T-C c.1862T>C p.L621P Missense 12/15 - 1
3-41277898-T-G c.1862T>G p.L621R Missense 12/15 - 1
3-41277900-G-A c.1864G>A p.A622T Missense 12/15 - 1
3-41277900-G-C c.1864G>C p.A622P Missense 12/15 - 4
3-41277900-G-T c.1864G>T p.A622S Missense 12/15 - 5
3-41277901-C-T c.1865C>T p.A622V Missense 12/15 - 1
3-41277903-C-G c.1867C>G p.Q623E Missense 12/15 - 9
3-41277903-C-T c.1867C>T p.Q623* Nonsense 12/15 - 5
3-41277904-A-G c.1868A>G p.Q623R Missense 12/15 - 1
3-41277906-G-C c.1870G>C p.D624H Missense 12/15 - 1
3-41277907-A-G c.1871A>G p.D624G Missense 12/15 - 1
3-41277908-C-A c.1872C>A p.D624E Missense 12/15 - 1
3-41277908-C-G c.1872C>G p.D624E Missense 12/15 - 1
3-41277912-G-T c.1876G>T p.E626* Nonsense 12/15 - 2
3-41277915-G-T c.1879G>T p.A627S Missense 12/15 - 2
3-41277920-A-C c.1884A>C p.A628= Synonymous 12/15 - 1
3-41277920-A-G c.1884A>G p.A628= Synonymous 12/15 - 2
3-41277920-A-T c.1884A>T p.A628= Synonymous 12/15 - 1
3-41277924-G-A c.1888G>A p.A630T Missense 12/15 - 1
3-41277925-C-T c.1889C>T p.A630V Missense 12/15 - 1
3-41277927-A-G c.1891A>G p.I631V Missense 12/15 - 1
3-41277933-G-C c.1897G>C p.A633P Missense 12/15 - 1
3-41277934-C-T c.1898C>T p.A633V Missense 12/15 - 1
3-41277935-T-A c.1899T>A p.A633= Synonymous 12/15 - 2
3-41277935-T-C c.1899T>C p.A633= Synonymous 12/15 - 2
3-41277935-T-G c.1899T>G p.A633= Synonymous 12/15 - 2
3-41277936-G-A c.1900G>A p.E634K Missense 12/15 - 1
3-41277936-G-T c.1900G>T p.E634* Nonsense 12/15 - 1
3-41277934-CTGAGGGAGCCACAGCTCCTCTGACAGAGTTACTTCACTCTAGGAATGAAGG-C c.1901_1951del p.E634_G650del InFrameDeletion 12/15 - 1
3-41277938-G-C c.1902G>C p.E634D Missense 12/15 - 2
3-41277938-G-T c.1902G>T p.E634D Missense 12/15 - 3
3-41277940-G-A c.1904G>A p.G635E Missense 12/15 - 1
3-41277939-GGA-G c.1905_1906del p.A636Hfs*11 Frameshift 12/15 - 1
3-41277942-G-A c.1906G>A p.A636T Missense 12/15 - 2
3-41277942-G-C c.1906G>C p.A636P Missense 12/15 - 1
3-41277943-C-A c.1907C>A p.A636D Missense 12/15 - 1
3-41277943-C-T c.1907C>T p.A636V Missense 12/15 - 1
3-41277945-A-T c.1909A>T p.T637S Missense 12/15 - 1
3-41277945-CA-C c.1909del p.T637Qfs*4 Frameshift 12/15 - 1
3-41277946-CA-AC c.1910_1911delinsAC p.T637N Missense 12/15 - 1
3-41277946-CA-TG c.1910_1911inv p.T637M Missense 12/15 - 1
3-41277948-G-A c.1912G>A p.A638T Missense 12/15 - 1
3-41277948-GC-TG c.1912_1913delinsTG p.A638C Missense 12/15 - 1
3-41277948-G-T c.1912G>T p.A638S Missense 12/15 - 1
3-41277951-C-G c.1915C>G p.P639A Missense 12/15 - 1
3-41277951-C-T c.1915C>T p.P639S Missense 12/15 - 2
3-41277952-C-T c.1916C>T p.P639L Missense 12/15 - 1
3-41277953-T-TA c.1917_1918insA p.L640Tfs*8 Frameshift 12/15 - 1
3-41277955-CT-C c.1919del p.L640Rfs*39 Frameshift 12/15 - 1
3-41277955-T-A c.1919T>A p.L640Q Missense 12/15 - 3
3-41277955-T-G c.1919T>G p.L640R Missense 12/15 - 2
3-41277954-C-T c.1918C>T p.L640= Synonymous 12/15 - 2
3-41277955-T-TG c.1920dup p.T641Dfs*7 Frameshift 12/15 - 1
3-41277956-G-A c.1920G>A p.L640= Synonymous 12/15 - 2
3-41277956-G-C c.1920G>C p.L640= Synonymous 12/15 - 2
3-41277956-G-T c.1920G>T p.L640= Synonymous 12/15 - 2
3-41277956-TG-T c.1920del p.T641Qfs*38 Frameshift 12/15 - 1
3-41277957-ACA-TGT c.1921_1923inv p.T641C Missense 12/15 - 1
3-41277957-A-G c.1921A>G p.T641A Missense 12/15 - 1
3-41277955-TGACA-T c.1922_1925del p.T641Sfs*37 Frameshift 12/15 - 1
3-41277958-C-CA c.1923dup p.E642Rfs*6 Frameshift 12/15 - 2
3-41277959-A-AT c.1923_1924insT p.E642* Nonsense 12/15 - 3
3-41277959-A-C c.1923A>C p.T641= Synonymous 12/15 - 1
3-41277959-A-G c.1923A>G p.T641= Synonymous 12/15 - 1
3-41277959-A-T c.1923A>T p.T641= Synonymous 12/15 - 1
3-41277958-CAG-C c.1925_1926del p.E642Vfs*5 Frameshift 12/15 - 5
3-41277963-TTA-CAT c.1927_1929delinsCAT p.L643H Missense 12/15 - 1
3-41277966-AC-A c.1930del p.L644Ffs*35 Frameshift 12/15 - 2
3-41277967-T-A c.1931T>A p.L644H Missense 12/15 - 1
3-41277967-T-C c.1931T>C p.L644P Missense 12/15 - 1
3-41277966-CT-C c.1932del p.H645Tfs*34 Frameshift 12/15 - 1
3-41277969-C-G c.1933C>G p.H645D Missense 12/15 - 1
3-41277969-C-T c.1933C>T p.H645Y Missense 12/15 - 2
3-41277970-A-AG c.1934_1935insG p.H645Qfs*3 Frameshift 12/15 - 1
3-41277970-A-C c.1934A>C p.H645P Missense 12/15 - 1
3-41277971-C-G c.1935C>G p.H645Q Missense 12/15 - 1
3-41277973-C-G c.1937C>G p.S646C Missense 12/15 - 6
3-41277973-C-T c.1937C>T p.S646F Missense 12/15 - 8
3-41277973-C-CT c.1938dup p.R647* Nonsense 12/15 - 1
3-41277975-A-G c.1939A>G p.R647G Missense 12/15 - 1
3-41277975-AG-CT c.1939_1940inv p.R647L Missense 12/15 - 1
3-41277975-AG-TA c.1939_1940delinsTA p.R647* Nonsense 12/15 - 1
3-41277976-G-A c.1940G>A p.R647K Missense 12/15 - 1
3-41277976-G-C c.1940G>C p.R647T Missense 12/15 - 1
3-41277976-G-T c.1940G>T p.R647M Missense 12/15 - 1
3-41277978-A-G c.1942A>G p.N648D Missense 12/15 - 1
3-41277979-A-G c.1943A>G p.N648S Missense 12/15 - 3
3-41277981-G-A c.1945G>A p.E649K Missense 12/15 - 2
3-41277981-G-C c.1945G>C p.E649Q Missense 12/15 - 5
3-41277981-G-T c.1945G>T p.E649* Nonsense 12/15 - 3
3-41277982-A-G c.1946A>G p.E649G Missense 12/15 - 1
3-41277984-G-T c.1948G>T p.G650C Missense 12/15 - 1
3-41277985-G-T c.1949G>T p.G650V Missense 12/15 - 1
3-41277987-G-A c.1951G>A p.V651M Missense 12/15 - 2
3-41277988-GT-G c.1952del p.V651Gfs*28 Frameshift 12/15 - 1
3-41277989-G-A c.1953G>A p.V651= Synonymous 12/15 - 2
3-41277989-G-GA c.1953_1954insA p.A652Sfs*13 SpliceDonorInsertion 12/15 - 2
3-41277989-G-GC c.1953_1954insC p.A652Rfs*13 SpliceDonorInsertion 12/15 - 2
3-41277989-G-GT c.1953_1954insT p.A652Cfs*13 SpliceDonorInsertion 12/15 - 2
3-41277990-G-C c.1954G>C p.A652P Missense 12/15 - 1
3-41277991-G-A c.1954+1G>A - IntronicSNV - 12/14 1
3-41277991-G-T c.1954+1G>T - IntronicSNV - 12/14 1
3-41277992-T-A c.1954+2T>A - IntronicSNV - 12/14 1
3-41277992-T-C c.1954+2T>C - IntronicSNV - 12/14 1
3-41278019-GC-G c.1954+29del - IntronicDeletion - 12/14 1
3-41278032-T-C c.1954+42T>C - IntronicSNV - 12/14 1
3-41278079-C-T c.1955C>T p.A652V Missense 13/15 - 8
3-41278080-G-A c.1956G>A p.A652= Synonymous 13/15 - 9
3-41278080-G-C c.1956G>C p.A652= Synonymous 13/15 - 4
3-41278080-G-T c.1956G>T p.A652= Synonymous 13/15 - 4
3-41278081-A-G c.1957A>G p.T653A Missense 13/15 - 1
3-41278082-C-A c.1958C>A p.T653K Missense 13/15 - 6
3-41278082-CA-TG c.1958_1959inv p.T653M Missense 13/15 - 1
3-41278082-C-G c.1958C>G p.T653R Missense 13/15 - 2
3-41278083-A-C c.1959A>C p.T653= Synonymous 13/15 - 2
3-41278083-A-G c.1959A>G p.T653= Synonymous 13/15 - 2
3-41278083-A-T c.1959A>T p.T653= Synonymous 13/15 - 1
3-41278084-TAT-GAG c.1960_1962delinsGAG p.Y654E Missense 13/15 - 12
3-41278084-T-G c.1960T>G p.Y654D Missense 13/15 - 1
3-41278085-A-G c.1961A>G p.Y654C Missense 13/15 - 1
3-41278085-A-T c.1961A>T p.Y654F Missense 13/15 - 16
3-41278086-T-A c.1962T>A p.Y654* Nonsense 13/15 - 2
3-41278086-T-G c.1962T>G p.Y654* Nonsense 13/15 - 4
3-41278088-C-A c.1964C>A p.A655E Missense 13/15 - 2
3-41278090-G-A c.1966G>A p.A656T Missense 13/15 - 1
3-41278091-C-T c.1967C>T p.A656V Missense 13/15 - 2
3-41278092-T-A c.1968T>A p.A656= Synonymous 13/15 - 1
3-41278092-T-C c.1968T>C p.A656= Synonymous 13/15 - 1
3-41278092-T-G c.1968T>G p.A656= Synonymous 13/15 - 1
3-41278093-G-A c.1969G>A p.A657T Missense 13/15 - 3
3-41278093-G-C c.1969G>C p.A657P Missense 13/15 - 1
3-41278094-C-T c.1970C>T p.A657V Missense 13/15 - 1
3-41278096-G-A c.1972G>A p.V658I Missense 13/15 - 1
3-41278096-G-T c.1972G>T p.V658F Missense 13/15 - 2
3-41278097-T-C c.1973T>C p.V658A Missense 13/15 - 1
3-41278099-T-C c.1975T>C p.L659= Synonymous 13/15 - 1
3-41278101-G-A c.1977G>A p.L659= Synonymous 13/15 - 1
3-41278100-T-C c.1976T>C p.L659S Missense 13/15 - 1
3-41278102-TT-GC c.1978_1979delinsGC p.F660A Missense 13/15 - 2
3-41278103-T-C c.1979T>C p.F660S Missense 13/15 - 3
3-41278105-C-A c.1981C>A p.R661= Synonymous 13/15 - 3
3-41278105-C-G c.1981C>G p.R661G Missense 13/15 - 3
3-41278105-CGA-TGG c.1981_1983delinsTGG p.R661W Missense 13/15 - 1
3-41278105-CGA-TGT c.1981_1983delinsTGT p.R661C Missense 13/15 - 1
3-41278105-CG-GC c.1981_1982delinsGC p.R661A Missense 13/15 - 2
3-41278105-C-T c.1981C>T p.R661* Nonsense 13/15 - 12
3-41278106-G-A c.1982G>A p.R661Q Missense 13/15 - 17
3-41278106-GA-AT c.1982_1983delinsAT p.R661H Missense 13/15 - 2
3-41278106-G-C c.1982G>C p.R661P Missense 13/15 - 1
3-41278106-G-T c.1982G>T p.R661L Missense 13/15 - 5
3-41278106-G-GA c.1984dup p.M662Nfs*3 Frameshift 13/15 - 1
3-41278108-A-G c.1984A>G p.M662V Missense 13/15 - 1
3-41278110-G-A c.1986G>A p.M662I Missense 13/15 - 2
3-41278110-G-C c.1986G>C p.M662I Missense 13/15 - 2
3-41278110-G-T c.1986G>T p.M662I Missense 13/15 - 2
3-41278112-CT-AA c.1988_1989delinsAA p.S663* Nonsense 13/15 - 1
3-41278114-G-A c.1990G>A p.E664K Missense 13/15 - 4
3-41278114-G-C c.1990G>C p.E664Q Missense 13/15 - 1
3-41278115-A-G c.1991A>G p.E664G Missense 13/15 - 2
3-41278116-G-C c.1992G>C p.E664D Missense 13/15 - 1
3-41278116-G-T c.1992G>T p.E664D Missense 13/15 - 1
3-41278117-G-A c.1993G>A p.D665N Missense 13/15 - 1
3-41278117-GAC-TAA c.1993_1995delinsTAA p.D665* Nonsense 13/15 - 1
3-41278119-C-A c.1995C>A p.D665E Missense 13/15 - 5
3-41278119-C-G c.1995C>G p.D665E Missense 13/15 - 2
3-41278119-C-T c.1995C>T p.D665= Synonymous 13/15 - 1
3-41278120-A-G c.1996A>G p.K666E Missense 13/15 - 2
3-41278119-CA-C c.1997del p.K666Sfs*13 Frameshift 13/15 - 1
3-41278121-A-G c.1997A>G p.K666R Missense 13/15 - 4
3-41278122-G-A c.1998G>A p.K666= Synonymous 13/15 - 1
3-41278125-CA-C c.2001del p.Q668Kfs*11 Frameshift 13/15 - 1
3-41278127-A-G c.2003A>G p.Q668R Missense 13/15 - 1
3-41278129-G-A c.2005G>A p.D669N Missense 13/15 - 1
3-41278129-G-T c.2005G>T p.D669Y Missense 13/15 - 1
3-41278130-A-T c.2006A>T p.D669V Missense 13/15 - 1
3-41278132-TA-CC c.2008_2009delinsCC p.Y670P Missense 13/15 - 1
3-41278132-TAC-GAG c.2008_2010delinsGAG p.Y670E Missense 13/15 - 1
3-41278133-A-T c.2009A>T p.Y670F Missense 13/15 - 1
3-41278134-AC-A c.2010del p.Y670* Frameshift 13/15 - 1
3-41278134-C-A c.2010C>A p.Y670* Nonsense 13/15 - 4
3-41278134-C-G c.2010C>G p.Y670* Nonsense 13/15 - 3
3-41278136-A-G c.2012A>G p.K671R Missense 13/15 - 1
3-41278137-G-A c.2013G>A p.K671= Synonymous 13/15 - 2
3-41278137-G-T c.2013G>T p.K671N Missense 13/15 - 1
3-41278141-CGG-TGT c.2017_2019delinsTGT p.R673C Missense 13/15 - 1
3-41278141-CG-TA c.2017_2018delinsTA p.R673* Nonsense 13/15 - 1
3-41278141-C-T c.2017C>T p.R673W Missense 13/15 - 4
3-41278142-G-A c.2018G>A p.R673Q Missense 13/15 - 3
3-41278142-G-T c.2018G>T p.R673L Missense 13/15 - 1
3-41278143-GGC-G c.2019_2020del p.L674Ffs*3 Frameshift 13/15 - 1
3-41278144-C-A c.2020C>A p.L674I Missense 13/15 - 1
3-41278147-TCA-GAC c.2023_2025delinsGAC p.S675D Missense 13/15 - 3
3-41278147-T-G c.2023T>G p.S675A Missense 13/15 - 9
3-41278148-C-A c.2024C>A p.S675* Nonsense 13/15 - 1
3-41278148-C-G c.2024C>G p.S675* Nonsense 13/15 - 1
3-41278148-C-T c.2024C>T p.S675L Missense 13/15 - 1
3-41278149-A-C c.2025A>C p.S675= Synonymous 13/15 - 1
3-41278149-A-G c.2025A>G p.S675= Synonymous 13/15 - 1
3-41278149-A-T c.2025A>T p.S675= Synonymous 13/15 - 1
3-41278150-G-C c.2026G>C p.V676L Missense 13/15 - 1
3-41278155-G-C c.2031G>C p.E677D Missense 13/15 - 1
3-41278155-G-T c.2031G>T p.E677D Missense 13/15 - 1
3-41278156-C-T c.2032C>T p.L678= Synonymous 13/15 - 1
3-41278159-A-T c.2035A>T p.T679S Missense 13/15 - 1
3-41278160-C-T c.2036C>T p.T679I Missense 13/15 - 2
3-41278161-C-CT c.2037_2038insT p.S680* Nonsense 13/15 - 1
3-41278161-C-T c.2037C>T p.T679= Synonymous 13/15 - 1
3-41278162-AGC-TGA c.2038_2040delinsTGA p.S680* Nonsense 13/15 - 1
3-41278163-G-A c.2039G>A p.S680N Missense 13/15 - 1
3-41278165-TC-CT c.2041_2042delinsCT p.S681L Missense 13/15 - 1
3-41278165-TC-GG c.2041_2042delinsGG p.S681G Missense 13/15 - 1
3-41278166-C-T c.2042C>T p.S681F Missense 13/15 - 8
3-41278166-CT-AA c.2042_2043delinsAA p.S681* Nonsense 13/15 - 1
3-41278168-C-G c.2044C>G p.L682V Missense 13/15 - 1
3-41278163-GCT-G c.2046_2047del p.F683Qfs*9 Frameshift 13/15 - 1
3-41278170-C-A c.2046C>A p.L682= Synonymous 13/15 - 1
3-41278170-C-G c.2046C>G p.L682= Synonymous 13/15 - 1
3-41278170-C-T c.2046C>T p.L682= Synonymous 13/15 - 1
3-41278171-CTT-C c.2047_2048del p.F683Qfs*9 Frameshift 13/15 - 1
3-41278171-T-C c.2047T>C p.F683L Missense 13/15 - 2
3-41278173-C-A c.2049C>A p.F683L Missense 13/15 - 2
3-41278173-C-G c.2049C>G p.F683L Missense 13/15 - 2
3-41278172-T-A c.2048T>A p.F683Y Missense 13/15 - 6
3-41278174-AGA-TGT c.2050_2052delinsTGT p.R684C Missense 13/15 - 1
3-41278174-AG-CA c.2050_2051delinsCA p.R684Q Missense 13/15 - 1
3-41278175-G-A c.2051G>A p.R684K Missense 13/15 - 2
3-41278175-G-C c.2051G>C p.R684T Missense 13/15 - 4
3-41278175-G-T c.2051G>T p.R684I Missense 13/15 - 1
3-41278176-A-C c.2052A>C p.R684S Missense 13/15 - 1
3-41278176-A-T c.2052A>T p.R684S Missense 13/15 - 1
3-41278177-A-G c.2053A>G p.T685A Missense 13/15 - 1
3-41278178-C-A c.2054C>A p.T685K Missense 13/15 - 1
3-41278180-G-A c.2056G>A p.E686K Missense 13/15 - 1
3-41278180-G-C c.2056G>C p.E686Q Missense 13/15 - 1
3-41278183-C-T c.2059C>T p.P687S Missense 13/15 - 5
3-41278184-C-T c.2060C>T p.P687L Missense 13/15 - 9
3-41278186-A-G c.2062A>G p.M688V Missense 13/15 - 4
3-41278187-T-C c.2063T>C p.M688T Missense 13/15 - 6
3-41278189-G-A c.2065G>A p.A689T Missense 13/15 - 3
3-41278189-GC-TG c.2065_2066delinsTG p.A689C Missense 13/15 - 1
3-41278189-G-T c.2065G>T p.A689S Missense 13/15 - 1
3-41278192-T-C c.2068T>C p.W690R Missense 13/15 - 1
3-41278194-G-T c.2070G>T p.W690C Missense 13/15 - 1
3-41278195-A-G c.2071A>G p.N691D Missense 13/15 - 1
3-41278195-A-T c.2071A>T p.N691Y Missense 13/15 - 1
3-41278196-A-C c.2072A>C p.N691T Missense 13/15 - 1
3-41278197-T-TCC c.2073_2074insCC p.E692Pfs*44 Frameshift 13/15 - 1
3-41278198-G-C c.2074G>C p.E692Q Missense 13/15 - 1
3-41278199-A-G c.2075A>G p.E692G Missense 13/15 - 1
3-41278200-G-C c.2076G>C p.E692D Missense 13/15 - 1
3-41278202-T-C c.2076+2T>C - IntronicSNV - 13/14 4
3-41278364-A-G c.2076+164A>G - IntronicSNV - 13/14 1
3-41279440-A-G c.2077-67A>G - IntronicSNV - 13/14 37
3-41279507-AC-GA c.2077_2078delinsGA p.T693D Missense 14/15 - 1
3-41279507-AC-GG c.2077_2078delinsGG p.T693G Missense 14/15 - 1
3-41279507-A-G c.2077A>G p.T693A Missense 14/15 - 1
3-41279510-G-A c.2080G>A p.A694T Missense 14/15 - 2
3-41279510-G-C c.2080G>C p.A694P Missense 14/15 - 1
3-41279511-C-T c.2081C>T p.A694V Missense 14/15 - 2
3-41279513-G-T c.2083G>T p.D695Y Missense 14/15 - 1
3-41279516-CTT-TAA c.2086_2088delinsTAA p.L696* Nonsense 14/15 - 1
3-41279517-T-C c.2087T>C p.L696P Missense 14/15 - 1
3-41279519-G-A c.2089G>A p.G697R Missense 14/15 - 2
3-41279519-G-C c.2089G>C p.G697R Missense 14/15 - 2
3-41279519-GGA-AGC c.2089_2091delinsAGC p.G697S Missense 14/15 - 1
3-41279520-G-A c.2090G>A p.G697E Missense 14/15 - 1
3-41279521-A-G c.2091A>G p.G697= Synonymous 14/15 - 1
3-41279523-T-A c.2093T>A p.L698H Missense 14/15 - 1
3-41279523-T-G c.2093T>G p.L698R Missense 14/15 - 1
3-41279524-T-TCC c.2094_2095insCC p.D699Pfs*37 Frameshift 14/15 - 3
3-41279525-G-A c.2095G>A p.D699N Missense 14/15 - 3
3-41279525-G-C c.2095G>C p.D699H Missense 14/15 - 6
3-41279526-A-T c.2096A>T p.D699V Missense 14/15 - 1
3-41279527-T-TA c.2098dup p.I700Nfs*14 Frameshift 14/15 - 1
3-41279532-G-A c.2102G>A p.G701D Missense 14/15 - 1
3-41279533-T-C c.2103T>C p.G701= Synonymous 14/15 - 1
3-41279535-C-T c.2105C>T p.A702V Missense 14/15 - 2
3-41279537-C-T c.2107C>T p.Q703* Nonsense 14/15 - 1
3-41279538-A-C c.2108A>C p.Q703P Missense 14/15 - 1
3-41279538-A-G c.2108A>G p.Q703R Missense 14/15 - 2
3-41279539-G-C c.2109G>C p.Q703H Missense 14/15 - 1
3-41279539-G-T c.2109G>T p.Q703H Missense 14/15 - 1
3-41279540-G-A c.2110G>A p.G704R Missense 14/15 - 2
3-41279540-G-C c.2110G>C p.G704R Missense 14/15 - 2
3-41279540-GGA-AGC c.2110_2112delinsAGC p.G704S Missense 14/15 - 1
3-41279543-G-A c.2113G>A p.E705K Missense 14/15 - 3
3-41279545-A-C c.2115A>C p.E705D Missense 14/15 - 2
3-41279545-A-T c.2115A>T p.E705D Missense 14/15 - 1
3-41279546-CCC-AAG c.2116_2118delinsAAG p.P706K Missense 14/15 - 1
3-41279546-C-G c.2116C>G p.P706A Missense 14/15 - 1
3-41279545-ACCC-A c.2117_2119del p.P706del InFrameDeletion 14/15 - 1
3-41279547-C-T c.2117C>T p.P706L Missense 14/15 - 3
3-41279545-AC-A c.2119del p.G708Dfs*27 Frameshift 14/15 - 1
3-41279549-C-T c.2119C>T p.L707F Missense 14/15 - 2
3-41279552-G-A c.2122G>A p.G708R Missense 14/15 - 1
3-41279552-GG-AA c.2122_2123delinsAA p.G708K Missense 14/15 - 1
3-41279553-G-A c.2123G>A p.G708E Missense 14/15 - 1
3-41279553-G-T c.2123G>T p.G708V Missense 14/15 - 3
3-41279555-TAT-GAG c.2125_2127delinsGAG p.Y709E Missense 14/15 - 1
3-41279556-A-G c.2126A>G p.Y709C Missense 14/15 - 1
3-41279558-CGC-TGG c.2128_2130delinsTGG p.R710W Missense 14/15 - 1
3-41279558-C-T c.2128C>T p.R710C Missense 14/15 - 7
3-41279559-G-A c.2129G>A p.R710H Missense 14/15 - 16
3-41279559-GC-AA c.2129_2130delinsAA p.R710Q Missense 14/15 - 2
3-41279559-G-T c.2129G>T p.R710L Missense 14/15 - 1
3-41279564-G-A c.2134G>A p.D712N Missense 14/15 - 8
3-41279564-G-T c.2134G>T p.D712Y Missense 14/15 - 1
3-41279567-G-A c.2137G>A p.D713N Missense 14/15 - 1
3-41279567-G-T c.2137G>T p.D713Y Missense 14/15 - 1
3-41279568-G-T c.2137+1G>T - IntronicSNV - 14/14 1
3-41279569-T-C c.2137+2T>C - IntronicSNV - 14/14 1
3-41279572-G-T c.2137+5G>T - IntronicSNV - 14/14 1
3-41279642-G-A c.2137+75G>A - IntronicSNV - 14/14 1
3-41279699-T-A c.2137+132T>A - IntronicSNV - 14/14 1
3-41279700-T-A c.2137+133T>A - IntronicSNV - 14/14 1
3-41279782-C-G c.2137+215C>G - IntronicSNV - 14/14 1
3-41280033-A-G c.2137+466A>G - IntronicSNV - 14/14 6
3-41280625-A-G c.2138A>G p.D713G Missense 15/15 - 1
3-41280627-C-T c.2140C>T p.P714S Missense 15/15 - 3
3-41280628-C-G c.2141C>G p.P714R Missense 15/15 - 6
3-41280628-C-T c.2141C>T p.P714L Missense 15/15 - 9
3-41280629-T-A c.2142T>A p.P714= Synonymous 15/15 - 1
3-41280629-T-C c.2142T>C p.P714= Synonymous 15/15 - 1
3-41280629-T-G c.2142T>G p.P714= Synonymous 15/15 - 1
3-41280630-AG-GA c.2143_2144delinsGA p.S715D Missense 15/15 - 1
3-41280630-AG-GC c.2143_2144delinsGC p.S715A Missense 15/15 - 3
3-41280631-G-T c.2144G>T p.S715I Missense 15/15 - 1
3-41280630-A-C c.2143A>C p.S715R Missense 15/15 - 1
3-41280632-C-A c.2145C>A p.S715R Missense 15/15 - 2
3-41280632-C-G c.2145C>G p.S715R Missense 15/15 - 1
3-41280632-C-T c.2145C>T p.S715= Synonymous 15/15 - 1
3-41280634-A-G c.2147A>G p.Y716C Missense 15/15 - 7
3-41280636-C-G c.2149C>G p.R717G Missense 15/15 - 1
3-41280636-C-T c.2149C>T p.R717C Missense 15/15 - 8
3-41280637-G-A c.2150G>A p.R717H Missense 15/15 - 5
3-41280637-G-T c.2150G>T p.R717L Missense 15/15 - 1
3-41280637-GT-AA c.2150_2151delinsAA p.R717Q Missense 15/15 - 1
3-41280637-GT-TA c.2150_2151delinsTA p.R717L Missense 15/15 - 1
3-41280638-T-G c.2151T>G p.R717= Synonymous 15/15 - 2
3-41280639-T-G c.2152T>G p.S718A Missense 15/15 - 1
3-41280644-T-G c.2157T>G p.F719L Missense 15/15 - 2
3-41280645-CAC-TAA c.2158_2160delinsTAA p.H720* Nonsense 15/15 - 2
3-41280646-A-C c.2159A>C p.H720P Missense 15/15 - 3
3-41280648-T-C c.2161T>C p.S721P Missense 15/15 - 1
3-41280649-C-A c.2162C>A p.S721Y Missense 15/15 - 1
3-41280649-C-T c.2162C>T p.S721F Missense 15/15 - 2
3-41280651-G-A c.2164G>A p.G722S Missense 15/15 - 2
3-41280654-GGA-AGC c.2167_2169delinsAGC p.G723S Missense 15/15 - 1
3-41280654-GGA-TGG c.2167_2169delinsTGG p.G723W Missense 15/15 - 1
3-41280655-GA-AC c.2168_2169delinsAC p.G723D Missense 15/15 - 1
3-41280657-T-C c.2170T>C p.Y724H Missense 15/15 - 3
3-41280658-A-C c.2171A>C p.Y724S Missense 15/15 - 2
3-41280658-A-G c.2171A>G p.Y724C Missense 15/15 - 2
3-41280659-T-A c.2172T>A p.Y724* Nonsense 15/15 - 2
3-41280659-T-G c.2172T>G p.Y724* Nonsense 15/15 - 4
3-41280660-GG-AC c.2173_2174delinsAC p.G725T Missense 15/15 - 1
3-41280661-G-A c.2174G>A p.G725D Missense 15/15 - 1
3-41280661-G-C c.2174G>C p.G725A Missense 15/15 - 1
3-41280661-G-T c.2174G>T p.G725V Missense 15/15 - 1
3-41280662-C-T c.2175C>T p.G725= Synonymous 15/15 - 1
3-41280665-G-T c.2178G>T p.Q726H Missense 15/15 - 1
3-41280666-G-C c.2179G>C p.D727H Missense 15/15 - 2
3-41280668-T-A c.2181T>A p.D727E Missense 15/15 - 1
3-41280668-T-G c.2181T>G p.D727E Missense 15/15 - 1
3-41280669-G-A c.2182G>A p.A728T Missense 15/15 - 2
3-41280669-G-C c.2182G>C p.A728P Missense 15/15 - 1
3-41280671-C-A c.2184C>A p.A728= Synonymous 15/15 - 1
3-41280671-C-G c.2184C>G p.A728= Synonymous 15/15 - 1
3-41280671-C-T c.2184C>T p.A728= Synonymous 15/15 - 3
3-41280673-T-C c.2186T>C p.L729S Missense 15/15 - 1
3-41280674-G-C c.2187G>C p.L729F Missense 15/15 - 2
3-41280674-G-T c.2187G>T p.L729F Missense 15/15 - 1
3-41280675-G-A c.2188G>A p.G730S Missense 15/15 - 7
3-41280676-G-A c.2189G>A p.G730D Missense 15/15 - 2
3-41280678-A-G c.2191A>G p.M731V Missense 15/15 - 1
3-41280680-G-T c.2193G>T p.M731I Missense 15/15 - 2
3-41280681-G-C c.2194G>C p.D732H Missense 15/15 - 1
3-41280683-C-A c.2196C>A p.D732E Missense 15/15 - 1
3-41280683-C-G c.2196C>G p.D732E Missense 15/15 - 1
3-41280683-C-T c.2196C>T p.D732= Synonymous 15/15 - 1
3-41280685-C-A c.2198C>A p.P733H Missense 15/15 - 1
3-41280685-C-G c.2198C>G p.P733R Missense 15/15 - 2
3-41280685-C-T c.2198C>T p.P733L Missense 15/15 - 1
3-41280689-G-A c.2202G>A p.M734I Missense 15/15 - 1
3-41280690-A-C c.2203A>C p.M735L Missense 15/15 - 2
3-41280690-A-T c.2203A>T p.M735L Missense 15/15 - 2
3-41280691-T-A c.2204T>A p.M735K Missense 15/15 - 1
3-41280691-T-C c.2204T>C p.M735T Missense 15/15 - 1
3-41280692-G-C c.2205G>C p.M735I Missense 15/15 - 1
3-41280693-G-A c.2206G>A p.E736K Missense 15/15 - 5
3-41280695-A-G c.2208A>G p.E736= Synonymous 15/15 - 4
3-41280697-A-G c.2210A>G p.H737R Missense 15/15 - 2
3-41280698-T-A c.2211T>A p.H737Q Missense 15/15 - 1
3-41280698-T-G c.2211T>G p.H737Q Missense 15/15 - 1
3-41280699-G-A c.2212G>A p.E738K Missense 15/15 - 16
3-41280699-G-C c.2212G>C p.E738Q Missense 15/15 - 1
3-41280701-AG-A c.2214del p.M739Wfs*49 Frameshift 15/15 - 1
3-41280701-G-T c.2214G>T p.E738D Missense 15/15 - 1
3-41280702-A-G c.2215A>G p.M739V Missense 15/15 - 1
3-41280704-G-A c.2217G>A p.M739I Missense 15/15 - 11
3-41280704-G-C c.2217G>C p.M739I Missense 15/15 - 5
3-41280704-G-T c.2217G>T p.M739I Missense 15/15 - 5
3-41280703-TG-T c.2219del p.G740Vfs*48 Frameshift 15/15 - 1
3-41280707-T-A c.2220T>A p.G740= Synonymous 15/15 - 1
3-41280707-T-C c.2220T>C p.G740= Synonymous 15/15 - 1
3-41280707-T-G c.2220T>G p.G740= Synonymous 15/15 - 1
3-41280710-C-A c.2223C>A p.G741= Synonymous 15/15 - 2
3-41280710-C-T c.2223C>T p.G741= Synonymous 15/15 - 1
3-41280711-C-T c.2224C>T p.H742Y Missense 15/15 - 3
3-41280713-C-T c.2226C>T p.H742= Synonymous 15/15 - 2
3-41280712-AC-A c.2227del p.H743Tfs*45 Frameshift 15/15 - 1
3-41280714-C-T c.2227C>T p.H743Y Missense 15/15 - 1
3-41280717-C-A c.2230C>A p.P744T Missense 15/15 - 7
3-41280717-C-T c.2230C>T p.P744S Missense 15/15 - 3
3-41280718-C-T c.2231C>T p.P744L Missense 15/15 - 1
3-41280720-G-A c.2233G>A p.G745S Missense 15/15 - 1
3-41280721-G-A c.2234G>A p.G745D Missense 15/15 - 1
3-41280721-GT-AG c.2234_2235delinsAG p.G745E Missense 15/15 - 1
3-41280723-G-A c.2236G>A p.A746T Missense 15/15 - 1
3-41280721-GTGC-G c.2237_2239del p.A746del InFrameDeletion 15/15 - 1
3-41280721-GTGCTGACTATCCAGT-G c.2237_2251del p.A746_V750del InFrameDeletion 15/15 - 3
3-41280724-C-T c.2237C>T p.A746V Missense 15/15 - 2
3-41280725-CT-C c.2238del p.D747Tfs*41 Frameshift 15/15 - 1
3-41280735-G-A c.2248G>A p.V750I Missense 15/15 - 1
3-41280736-T-C c.2249T>C p.V750A Missense 15/15 - 2
3-41280738-G-A c.2251G>A p.D751N Missense 15/15 - 3
3-41280741-GGG-TGT c.2254_2256delinsTGT p.G752C Missense 15/15 - 1
3-41280742-G-A c.2255G>A p.G752E Missense 15/15 - 2
3-41280742-G-C c.2255G>C p.G752A Missense 15/15 - 1
3-41280742-G-T c.2255G>T p.G752V Missense 15/15 - 1
3-41280743-G-A c.2256G>A p.G752= Synonymous 15/15 - 1
3-41280744-CTG-TTT c.2257_2259delinsTTT p.L753F Missense 15/15 - 1
3-41280745-T-TG c.2259dup p.P754Afs*17 Frameshift 15/15 - 1
3-41280747-C-T c.2260C>T p.P754S Missense 15/15 - 1
3-41280737-TGATGGGCTGCCAGATCTGGGGCATGCCCAGGACCTCATG-T c.2262_2300del p.D755_P767del InFrameDeletion 15/15 - 1
3-41280749-A-C c.2262A>C p.P754= Synonymous 15/15 - 1
3-41280749-A-G c.2262A>G p.P754= Synonymous 15/15 - 1
3-41280749-A-T c.2262A>T p.P754= Synonymous 15/15 - 3
3-41280750-G-C c.2263G>C p.D755H Missense 15/15 - 1
3-41280750-G-T c.2263G>T p.D755Y Missense 15/15 - 1
3-41280751-A-C c.2264A>C p.D755A Missense 15/15 - 1
3-41280751-A-T c.2264A>T p.D755V Missense 15/15 - 2
3-41280752-T-A c.2265T>A p.D755E Missense 15/15 - 1
3-41280752-T-C c.2265T>C p.D755= Synonymous 15/15 - 2
3-41280753-C-T c.2266C>T p.L756= Synonymous 15/15 - 1
3-41280754-T-C c.2267T>C p.L756P Missense 15/15 - 2
3-41280755-G-A c.2268G>A p.L756= Synonymous 15/15 - 1
3-41280757-G-A c.2270G>A p.G757E Missense 15/15 - 2
3-41280757-G-C c.2270G>C p.G757A Missense 15/15 - 2
3-41280758-G-A c.2271G>A p.G757= Synonymous 15/15 - 3
3-41280758-G-C c.2271G>C p.G757= Synonymous 15/15 - 1
3-41280758-G-T c.2271G>T p.G757= Synonymous 15/15 - 1
3-41280759-C-T c.2272C>T p.H758Y Missense 15/15 - 1
3-41280760-A-C c.2273A>C p.H758P Missense 15/15 - 1
3-41280760-CA-C c.2273del p.H758Lfs*30 Frameshift 15/15 - 2
3-41280761-T-C c.2274T>C p.H758= Synonymous 15/15 - 3
3-41280762-G-A c.2275G>A p.A759T Missense 15/15 - 3
3-41280763-C-T c.2276C>T p.A759V Missense 15/15 - 1
3-41280768-G-C c.2281G>C p.D761H Missense 15/15 - 3
3-41280768-G-T c.2281G>T p.D761Y Missense 15/15 - 2
3-41280769-A-C c.2282A>C p.D761A Missense 15/15 - 1
3-41280769-A-G c.2282A>G p.D761G Missense 15/15 - 1
3-41280771-C-T c.2284C>T p.L762F Missense 15/15 - 1
3-41280772-T-C c.2285T>C p.L762P Missense 15/15 - 10
3-41280776-G-A c.2289G>A p.M763I Missense 15/15 - 1
3-41280776-G-C c.2289G>C p.M763I Missense 15/15 - 2
3-41280776-G-T c.2289G>T p.M763I Missense 15/15 - 1
3-41280778-A-C c.2291A>C p.D764A Missense 15/15 - 1
3-41280779-T-C c.2292T>C p.D764= Synonymous 15/15 - 1
3-41280781-G-T c.2294G>T p.G765V Missense 15/15 - 1
3-41280783-C-A c.2296C>A p.L766M Missense 15/15 - 1
3-41280783-C-T c.2296C>T p.L766= Synonymous 15/15 - 1
3-41280786-C-G c.2299C>G p.P767A Missense 15/15 - 1
3-41280787-C-T c.2300C>T p.P767L Missense 15/15 - 1
3-41280788-T-C c.2301T>C p.P767= Synonymous 15/15 - 1
3-41280789-C-A c.2302C>A p.P768T Missense 15/15 - 1
3-41280790-C-A c.2303C>A p.P768Q Missense 15/15 - 1
3-41280790-C-T c.2303C>T p.P768L Missense 15/15 - 1
3-41280792-G-A c.2305G>A p.G769S Missense 15/15 - 1
3-41280793-G-A c.2306G>A p.G769D Missense 15/15 - 1
3-41280794-T-A c.2307T>A p.G769= Synonymous 15/15 - 1
3-41280796-A-C c.2309A>C p.D770A Missense 15/15 - 1
3-41280797-C-T c.2310C>T p.D770= Synonymous 15/15 - 2
3-41280799-G-A c.2312G>A p.S771N Missense 15/15 - 1
3-41280799-G-T c.2312G>T p.S771I Missense 15/15 - 1
3-41280798-A-C c.2311A>C p.S771R Missense 15/15 - 1
3-41280800-C-A c.2313C>A p.S771R Missense 15/15 - 1
3-41280800-C-G c.2313C>G p.S771R Missense 15/15 - 1
3-41280800-C-T c.2313C>T p.S771= Synonymous 15/15 - 1
3-41280801-A-G c.2314A>G p.N772D Missense 15/15 - 1
3-41280799-GCAAT-G c.2315_2318del p.N772Sfs*15 Frameshift 15/15 - 1
3-41280800-CA-C c.2315del p.N772Ifs*16 Frameshift 15/15 - 1
3-41280802-A-G c.2315A>G p.N772S Missense 15/15 - 6
3-41280803-T-A c.2316T>A p.N772K Missense 15/15 - 7
3-41280803-T-G c.2316T>G p.N772K Missense 15/15 - 5
3-41280803-T-TTACAACCCC c.2316_2317insTACAACCCC p.N772_Q773insYNP InFrameInsertion 15/15 - 1
3-41280804-C-A c.2317C>A p.Q773K Missense 15/15 - 1
3-41280804-C-T c.2317C>T p.Q773* Nonsense 15/15 - 6
3-41280805-A-G c.2318A>G p.Q773R Missense 15/15 - 1
3-41280806-G-C c.2319G>C p.Q773H Missense 15/15 - 1
3-41280806-G-T c.2319G>T p.Q773H Missense 15/15 - 2
3-41280807-C-A c.2320C>A p.L774M Missense 15/15 - 1
3-41280807-C-T c.2320C>T p.L774= Synonymous 15/15 - 7
3-41280810-G-A c.2323G>A p.A775T Missense 15/15 - 1
3-41280811-C-A c.2324C>A p.A775D Missense 15/15 - 1
3-41280811-C-T c.2324C>T p.A775V Missense 15/15 - 1
3-41280813-TG-GC c.2326_2327delinsGC p.W776A Missense 15/15 - 1
3-41280814-G-A c.2327G>A p.W776* Nonsense 15/15 - 2
3-41280815-G-A c.2328G>A p.W776* Nonsense 15/15 - 3
3-41280817-T-C c.2330T>C p.F777S Missense 15/15 - 9
3-41280819-G-A c.2332G>A p.D778N Missense 15/15 - 3
3-41280819-G-C c.2332G>C p.D778H Missense 15/15 - 1
3-41280820-A-C c.2333A>C p.D778A Missense 15/15 - 1
3-41280821-T-A c.2334T>A p.D778E Missense 15/15 - 1
3-41280821-T-G c.2334T>G p.D778E Missense 15/15 - 1
3-41280822-A-C c.2335A>C p.T779P Missense 15/15 - 1
3-41280822-A-G c.2335A>G p.T779A Missense 15/15 - 1
3-41280823-AC-A c.2336del p.T779Mfs*9 Frameshift 15/15 - 1
3-41280824-T-A c.2337T>A p.T779= Synonymous 15/15 - 1
3-41280824-T-C c.2337T>C p.T779= Synonymous 15/15 - 3
3-41280824-T-G c.2337T>G p.T779= Synonymous 15/15 - 1
3-41280825-G-A c.2338G>A p.D780N Missense 15/15 - 1
3-41280826-A-C c.2339A>C p.D780A Missense 15/15 - 1
3-41280827-C-T c.2340C>T p.D780= Synonymous 15/15 - 21
3-41281388-T-G c.*555T>G - 3-UTRSNV 15/15 - 18
3-41281413-T-A c.*580T>A - 3-UTRSNV 15/15 - 2
3-41281431-T-TA c.*600dup - 3-UTRInsertion 15/15 - 1
3-41281477-C-T c.*644C>T - 3-UTRSNV 15/15 - 1
3-41281600-C-CTAAT c.*769_*772dup - 3-UTRInsertion 15/15 - 3