TG

TG thyroglobulin

Annotation transcript: NM_003235.5

34468 unique variant annotations were identified in 6102 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
8-133879246-A-G c.1A>G p.M1? Missense 1/48 - 30
8-133879246-AAT-A c.1_2del p.M1? CdsStartDeletion 1/48 - 8
8-133879242-G-GA c.1dup p.M1? CdsStartInsertion 1/48 - 13
8-133879242-GA-G c.1del p.M1? CdsStartDeletion 1/48 - 12
8-133879246-A-C c.1A>C p.M1? Missense 1/48 - 3
8-133879246-A-ACT c.1_2insCT p.M1? CdsStartInsertion 1/48 - 1
8-133879245-A-AAATC c.1_2insATCA p.M1? CdsStartInsertion 1/48 - 1
8-133879245-A-AAC c.1_2insCA p.M1? CdsStartInsertion 1/48 - 2
8-133879245-A-AAG c.1_2insGA p.M1? CdsStartInsertion 1/48 - 1
8-133879246-A-AATTTGGTGTTGCCTGTGGTCTTGGTCTCG c.1_2insATTTGGTGTTGCCTGTGGTCTTGGTCTCG p.M1? CdsStartInsertion 1/48 - 1
8-133879246-A-T c.1A>T p.M1? Missense 1/48 - 9
8-133879246-AATG-A c.1_3del p.M1? CdsStartDeletion 1/48 - 5
8-133879246-A-AAATGT c.1_2insAATGT p.M1? CdsStartInsertion 1/48 - 1
8-133879246-AATGGCCCTG-A c.1_9del p.MAL1_?3 CdsStartDeletion 1/48 - 1
8-133879246-AATGGCCCTGGTCCT-A c.1_14del p.M1_?5 CdsStartDeletion 1/48 - 1
8-133879246-A-AG c.1_2insG p.M1? CdsStartInsertion 1/48 - 2
8-133879247-AT-A c.2del p.M1? CdsStartDeletion 1/48 - 4
8-133879246-A-AT c.2dup p.M1? Frameshift 1/48 - 2
8-133879247-T-A c.2T>A p.M1? Missense 1/48 - 17
8-133879247-T-TA c.2_3insA p.M1? Frameshift 1/48 - 2
8-133879247-T-C c.2T>C p.M1? Missense 1/48 - 23
8-133879247-ATG-A c.2_3del p.M1? Frameshift 1/48 - 2
8-133879247-T-G c.2T>G p.M1? Missense 1/48 - 12
8-133879247-ATGGCCCTGGTCCTGGAGATCTTCACCCTGCTGGCCTCCATCTGCTGGGTGTCGGCCAAT-A c.2_60del p.M1_?20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 1/48 - 1
8-133879247-ATGG-A c.2_4del p.MA1_?2 MultiAAMissense 1/48 - 1
8-133879247-T-TTTTGATGGAGATGCATATAATGGAGTGGGCCAGGGTAGGAAAAATA c.2_3insTTTGATGGAGATGCATATAATGGAGTGGGCCAGGGTAGGAAAAATA p.M1? Frameshift 1/48 - 1
8-133879248-G-C c.3G>C p.M1? Missense 1/48 - 7
8-133879248-G-A c.3G>A p.M1? Missense 1/48 - 29
8-133879248-G-T c.3G>T p.M1? Missense 1/48 - 15
8-133879248-TGGC-T c.3_5del p.MA1_?2 MultiAAMissense 1/48 - 1
8-133879248-G-AATTAT c.3delinsAATTAT p.M1? CdsStartBlockSubstitution 1/48 - 1
8-133879246-ATGGCCCTGG-A c.3_11del p.MALV1_?4 MultiAAMissense 1/48 - 1
8-133879245-A-AATGCTGTCATG c.3_4insCTGTCATGATG p.A2Lfs*3 Frameshift 1/48 - 1
8-133879248-G-GC c.3_4insC p.A2Rfs*34 Frameshift 1/48 - 1
8-133879248-G-GCA c.3_4insCA p.A2Qfs*43 Frameshift 1/48 - 1
8-133879248-G-GACT c.3_4insACT p.M1_A2insT InFrameInsertion 1/48 - 1
8-133879248-G-GT c.3_4insT p.A2Cfs*34 Frameshift 1/48 - 1
8-133879249-G-A c.4G>A p.A2T Missense 1/48 - 20
8-133879247-TG-T c.4del p.A2Pfs*42 Frameshift 1/48 - 7
8-133879249-G-GTATA c.4_5insTATA p.A2Vfs*35 Frameshift 1/48 - 1
8-133879249-G-T c.4G>T p.A2S Missense 1/48 - 10
8-133879248-G-GGA c.4_5insAG p.A2Efs*43 Frameshift 1/48 - 1
8-133879247-T-TGGATTACAAGGATGACGACGATAA c.4_5insATTACAAGGATGACGACGATAAGG p.M1_A2insDYKDDDDK InFrameInsertion 1/48 - 1
8-133879248-G-GGT c.4_5insTG p.A2Vfs*43 Frameshift 1/48 - 1
8-133879247-T-TG c.4dup p.A2Gfs*34 Frameshift 1/48 - 1
8-133879249-G-C c.4G>C p.A2P Missense 1/48 - 4
8-133879249-GCC-TAA c.4_6delinsTAA p.A2* Nonsense 1/48 - 2
8-133879249-GCC-AAG c.4_6delinsAAG p.A2K Missense 1/48 - 1
8-133879249-GC-CT c.4_5delinsCT p.A2L Missense 1/48 - 1
8-133879249-GC-AT c.4_5delinsAT p.A2I Missense 1/48 - 1
8-133879249-GC-AA c.4_5delinsAA p.A2N Missense 1/48 - 1
8-133879249-GC-CG c.4_5delinsCG p.A2R Missense 1/48 - 1
8-133879250-C-CG c.5_6insG p.L3Pfs*33 Frameshift 1/48 - 2
8-133879250-C-T c.5C>T p.A2V Missense 1/48 - 23
8-133879249-G-GCT c.5_6insTC p.L3Pfs*42 Frameshift 1/48 - 1
8-133879250-C-A c.5C>A p.A2D Missense 1/48 - 9
8-133879249-G-GCTGATT c.5_6insTGATTC p.A2_L3insDS InFrameInsertion 1/48 - 1
8-133879250-C-CAAT c.5_6insAAT p.A2_L3insI InFrameInsertion 1/48 - 1
8-133879250-C-G c.5C>G p.A2G Missense 1/48 - 4
8-133879250-CC-AG c.5_6delinsAG p.A2E Missense 1/48 - 2
8-133879250-GCCCTGGTCCTGGAGATCTTCACCC-G c.5_28del p.A2_L10delinsV MultiAAMissense 1/48 - 1
8-133879251-C-A c.6C>A p.A2= Synonymous 1/48 - 25
8-133879251-C-G c.6C>G p.A2= Synonymous 1/48 - 29
8-133879251-C-T c.6C>T p.A2= Synonymous 1/48 - 31
8-133879251-CCCT-C c.6_8del p.L3del InFrameDeletion 1/48 - 1
8-133879249-GCC-G c.6_7del p.L3Gfs*32 Frameshift 1/48 - 1
8-133879251-C-CAAGAGAATGAGAA c.6_7insAAGAGAATGAGAA p.L3Kfs*37 Frameshift 1/48 - 1
8-133879250-CCCTGGTCCTGGAGAT-C c.7_21del p.L3_I7del InFrameDeletion 1/48 - 1
8-133879252-CT-TC c.7_8delinsTC p.L3S Missense 1/48 - 2
8-133879252-CTG-TTT c.7_9delinsTTT p.L3F Missense 1/48 - 4
8-133879252-C-G c.7C>G p.L3V Missense 1/48 - 7
8-133879249-GC-G c.7del p.L3Wfs*41 Frameshift 1/48 - 6
8-133879252-C-A c.7C>A p.L3M Missense 1/48 - 8
8-133879252-CT-AA c.7_8delinsAA p.L3K Missense 1/48 - 1
8-133879252-CTG-ATC c.7_9delinsATC p.L3I Missense 1/48 - 4
8-133879249-G-GC c.7dup p.L3Pfs*33 Frameshift 1/48 - 1
8-133879252-CCT-C c.7_8del p.L3Gfs*32 Frameshift 1/48 - 1
8-133879252-CT-TA c.7_8delinsTA p.L3* Nonsense 1/48 - 1
8-133879252-CT-TG c.7_8delinsTG p.L3W Missense 1/48 - 1
8-133879253-TG-ATGTA c.8_9delinsATGTA p.L3delinsHV MultiAAMissense 1/48 - 1
8-133879250-CCCTGGTCCTGGAGATCTT-C c.7_24del p.L3_F8del InFrameDeletion 1/48 - 1
8-133879252-C-CTTGTTG c.8_9insTGTTGT p.V4_L5insVV InFrameInsertion 1/48 - 1
8-133879253-T-TTG c.8_9insTG p.V4Gfs*41 Frameshift 1/48 - 1
8-133879252-C-CTA c.8_9insAT p.V4Wfs*41 Frameshift 1/48 - 1
8-133879252-C-CT c.8dup p.V4Gfs*32 Frameshift 1/48 - 3
8-133879253-T-G c.8T>G p.L3R Missense 1/48 - 7
8-133879253-T-C c.8T>C p.L3P Missense 1/48 - 9
8-133879251-C-CCTATATT c.8_9insATATTCT p.V4Yfs*34 Frameshift 1/48 - 1
8-133879252-C-CTTAT c.8_9insTATT p.V4Ifs*33 Frameshift 1/48 - 1
8-133879252-C-CTCTATAT c.8_9insCTATATT p.V4Yfs*34 Frameshift 1/48 - 1
8-133879253-CT-C c.8del p.L3Rfs*41 Frameshift 1/48 - 2
8-133879253-T-A c.8T>A p.L3Q Missense 1/48 - 5
8-133879253-TG-AT c.8_9delinsAT p.L3H Missense 1/48 - 2
8-133879253-CTGGTCCTGG-C c.8_16del p.L3_E6delinsQ MultiAAMissense 1/48 - 1
8-133879254-TGG-T c.9_10del p.V4Pfs*31 Frameshift 1/48 - 6
8-133879254-G-C c.9G>C p.L3= Synonymous 1/48 - 17
8-133879254-G-T c.9G>T p.L3= Synonymous 1/48 - 16
8-133879254-G-A c.9G>A p.L3= Synonymous 1/48 - 19
8-133879252-C-T c.7C>T p.L3= Synonymous 1/48 - 24
8-133879253-T-TGATCCAAA c.9_10insATCCAAAG p.V4Ifs*43 Frameshift 1/48 - 1
8-133879254-TGGTCCTGGAGATCTTCACCCTGCTGGCCTCCATCTGCTGGGTGTCGGCCAATATCTTCG-T c.10_67+1del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 - 1
8-133879255-G-A c.10G>A p.V4I Missense 1/48 - 18
8-133879255-GGT-G c.10_11del p.V4Pfs*31 Frameshift 1/48 - 1
8-133879253-TG-T c.10del p.V4Sfs*40 Frameshift 1/48 - 6
8-133879255-G-C c.10G>C p.V4L Missense 1/48 - 4
8-133879255-GT-CG c.10_11delinsCG p.V4R Missense 1/48 - 1
8-133879255-GTC-ATG c.10_12delinsATG p.V4M Missense 1/48 - 2
8-133879255-G-T c.10G>T p.V4F Missense 1/48 - 6
8-133879255-G-GC c.10_11insC p.V4Afs*32 Frameshift 1/48 - 1
8-133879255-GT-AC c.10_11inv p.V4T Missense 1/48 - 1
8-133879255-GTC-TAA c.10_12delinsTAA p.V4* Nonsense 1/48 - 1
8-133879253-T-TG c.10dup p.V4Gfs*32 Frameshift 1/48 - 3
8-133879255-G-ATGA c.10delinsATGA p.V4delinsMI MultiAAMissense 1/48 - 1
8-133879256-T-TG c.11_12insG p.L5Pfs*31 Frameshift 1/48 - 4
8-133879256-T-C c.11T>C p.V4A Missense 1/48 - 14
8-133879256-GTCCTGGAGATCTTCA-G c.11_25del p.V4_T9delinsA MultiAAMissense 1/48 - 1
8-133879256-GT-G c.11del p.V4Afs*40 Frameshift 1/48 - 5
8-133879256-T-TGC c.11_12insGC p.L5Pfs*40 Frameshift 1/48 - 1
8-133879256-T-A c.11T>A p.V4D Missense 1/48 - 4
8-133879256-T-G c.11T>G p.V4G Missense 1/48 - 5
8-133879256-T-TACA c.11_12insACA p.V4_L5insH InFrameInsertion 1/48 - 1
8-133879256-GTCCTGGAGATCTTCACCCTGCTGGCCTCCATCTGCTGGGTGTCGGCCAATATCTTCGGT-G c.11_67+2del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879256-GTCCTGGAGAT-G c.11_20del p.V4Afs*37 Frameshift 1/48 - 1
8-133879256-TC-AG c.11_12delinsAG p.V4E Missense 1/48 - 1
8-133879254-GGTCCT-G c.11_15del p.V4Gfs*30 Frameshift 1/48 - 1
8-133879255-G-GTGGTC c.11_12insGGTCT p.L5Vfs*41 Frameshift 1/48 - 1
8-133879257-C-CTG c.12_13insTG p.L5Cfs*40 Frameshift 1/48 - 1
8-133879256-T-TCACCAC c.12_13insACCACC p.V4_L5insTT InFrameInsertion 1/48 - 1
8-133879257-TCC-T c.12_13del p.L5Gfs*30 Frameshift 1/48 - 2
8-133879255-GTCCTGGAGATCTTCACCCTGCTGGCCTCCATCTGC-G c.12_46del p.L5Gfs*19 Frameshift 1/48 - 1
8-133879257-C-CATG c.12_13insATG p.V4_L5insM InFrameInsertion 1/48 - 1
8-133879257-C-CTT c.12_13insTT p.L5Ffs*40 Frameshift 1/48 - 1
8-133879257-C-G c.12C>G p.V4= Synonymous 1/48 - 15
8-133879257-C-A c.12C>A p.V4= Synonymous 1/48 - 14
8-133879257-C-T c.12C>T p.V4= Synonymous 1/48 - 17
8-133879257-C-CA c.12_13insA p.L5Tfs*31 Frameshift 1/48 - 1
8-133879258-C-CGTG c.13_14insGTG p.L5delinsRV MultiAAMissense 1/48 - 1
8-133879258-C-T c.13C>T p.L5= Synonymous 1/48 - 19
8-133879258-C-CAT c.13_14insAT p.L5Hfs*40 Frameshift 1/48 - 1
8-133879258-CTG-TTT c.13_15delinsTTT p.L5F Missense 1/48 - 4
8-133879258-C-A c.13C>A p.L5M Missense 1/48 - 9
8-133879258-CTG-ATC c.13_15delinsATC p.L5I Missense 1/48 - 4
8-133879258-CCTG-C c.13_15del p.L5del InFrameDeletion 1/48 - 2
8-133879256-TC-T c.13del p.L5Wfs*39 Frameshift 1/48 - 6
8-133879258-C-CA c.13_14insA p.L5Hfs*31 Frameshift 1/48 - 1
8-133879258-C-G c.13C>G p.L5V Missense 1/48 - 6
8-133879256-T-TC c.13dup p.L5Pfs*31 Frameshift 1/48 - 3
8-133879258-CT-TA c.13_14delinsTA p.L5* Nonsense 1/48 - 3
8-133879258-CT-TC c.13_14delinsTC p.L5S Missense 1/48 - 2
8-133879258-CT-GG c.13_14delinsGG p.L5G Missense 1/48 - 1
8-133879258-CT-AC c.13_14delinsAC p.L5T Missense 1/48 - 1
8-133879258-CTG-TGT c.13_15delinsTGT p.L5C Missense 1/48 - 1
8-133879259-T-C c.14T>C p.L5P Missense 1/48 - 9
8-133879259-CTGGAG-C c.14_18del p.L5Hfs*29 Frameshift 1/48 - 1
8-133879259-T-G c.14T>G p.L5R Missense 1/48 - 7
8-133879259-CT-C c.14del p.L5Rfs*39 Frameshift 1/48 - 7
8-133879259-T-A c.14T>A p.L5Q Missense 1/48 - 3
8-133879258-C-CTTGA c.14_15insTGAT p.E6Dfs*31 Frameshift 1/48 - 1
8-133879259-CTG-C c.14_15del p.L5Rfs*30 Frameshift 1/48 - 2
8-133879258-C-CT c.14dup p.E6Gfs*30 Frameshift 1/48 - 1
8-133879260-G-GA c.15_16insA p.E6Rfs*30 Frameshift 1/48 - 1
8-133879260-G-A c.15G>A p.L5= Synonymous 1/48 - 16
8-133879260-G-GT c.15_16insT p.E6* Nonsense 1/48 - 1
8-133879260-G-T c.15G>T p.L5= Synonymous 1/48 - 13
8-133879260-G-C c.15G>C p.L5= Synonymous 1/48 - 11
8-133879258-CTGGAGATCTTCACCCTGCTGGCCTCCATCTGCTGGGTGTCGGCCAATA-C c.15_62del p.E6_I21del InFrameDeletion 1/48 - 1
8-133879259-TG-T c.16del p.E6Rfs*38 Frameshift 1/48 - 11
8-133879260-G-GGGTGGCAGAGCAGAGGGGCGGAGC c.16_17insGTGGCAGAGCAGAGGGGCGGAGCG p.L5_E6insGGRAEGRS InFrameInsertion 1/48 - 1
8-133879261-GGAGATCTTCACC-G c.16_27del p.E6_T9del InFrameDeletion 1/48 - 1
8-133879261-G-A c.16G>A p.E6K Missense 1/48 - 15
8-133879261-G-T c.16G>T p.E6* Nonsense 1/48 - 11
8-133879261-G-C c.16G>C p.E6Q Missense 1/48 - 4
8-133879259-T-TG c.16dup p.E6Gfs*30 Frameshift 1/48 - 1
8-133879259-TGGA-T c.16_18del p.E6del InFrameDeletion 1/48 - 2
8-133879261-G-GTGCTGC c.16_17insTGCTGC p.E6delinsVLQ MultiAAMissense 1/48 - 1
8-133879261-GAG-TTT c.16_18delinsTTT p.E6F Missense 1/48 - 1
8-133879262-A-ATGTTG c.17_18insTGTTG p.E6Dfs*40 Frameshift 1/48 - 1
8-133879262-A-T c.17A>T p.E6V Missense 1/48 - 6
8-133879261-G-GA c.17dup p.I7Dfs*29 Frameshift 1/48 - 1
8-133879262-A-G c.17A>G p.E6G Missense 1/48 - 11
8-133879262-GA-G c.17del p.E6Gfs*38 Frameshift 1/48 - 2
8-133879262-A-ATGTG c.17_18insTGTG p.E6Dfs*31 Frameshift 1/48 - 1
8-133879262-A-C c.17A>C p.E6A Missense 1/48 - 5
8-133879261-G-GAA c.17_18insAA p.I7Rfs*38 Frameshift 1/48 - 1
8-133879262-GAGA-G c.17_19del p.E6_I7delinsV MultiAAMissense 1/48 - 2
8-133879262-A-AAGG c.17_18insAGG p.E6_I7insG InFrameInsertion 1/48 - 1
8-133879259-T-TGGAGGC c.18_19insGCGGAG p.E6_I7insAE InFrameInsertion 1/48 - 1
8-133879263-G-T c.18G>T p.E6D Missense 1/48 - 9
8-133879263-G-C c.18G>C p.E6D Missense 1/48 - 5
8-133879263-G-A c.18G>A p.E6= Synonymous 1/48 - 11
8-133879263-AG-A c.18del p.I7Sfs*37 Frameshift 1/48 - 3
8-133879263-G-GT c.18_19insT p.I7Yfs*29 Frameshift 1/48 - 1
8-133879263-G-GC c.18_19insC p.I7Hfs*29 Frameshift 1/48 - 1
8-133879260-GGA-G c.18_19del p.E6Dfs*29 Frameshift 1/48 - 1
8-133879264-A-AAAC c.19_20insAAC p.I7delinsKL MultiAAMissense 1/48 - 1
8-133879264-A-T c.19A>T p.I7F Missense 1/48 - 4
8-133879264-A-C c.19A>C p.I7L Missense 1/48 - 5
8-133879264-GA-G c.19del p.I7Sfs*37 Frameshift 1/48 - 2
8-133879264-AT-GA c.19_20delinsGA p.I7D Missense 1/48 - 1
8-133879264-AT-GC c.19_20delinsGC p.I7A Missense 1/48 - 1
8-133879264-A-G c.19A>G p.I7V Missense 1/48 - 8
8-133879264-ATC-GTA c.19_21delinsGTA p.I7V Missense 1/48 - 1
8-133879263-G-GA c.19dup p.I7Nfs*29 Frameshift 1/48 - 2
8-133879264-A-AC c.19_20insC p.I7Tfs*29 Frameshift 1/48 - 1
8-133879264-GATCTTCACCCTGCTGGC-G c.19_35del p.I7Lfs*23 Frameshift 1/48 - 1
8-133879264-GATC-G c.19_21del p.I7del InFrameDeletion 1/48 - 2
8-133879264-ATC-TAA c.19_21delinsTAA p.I7* Nonsense 1/48 - 1
8-133879265-T-A c.20T>A p.I7N Missense 1/48 - 7
8-133879265-AT-A c.20del p.I7Tfs*37 Frameshift 1/48 - 4
8-133879264-A-ATTTTTTTTT c.20_21insTTTTTTTTT p.F8_T9insFFF InFrameInsertion 1/48 - 1
8-133879265-T-C c.20T>C p.I7T Missense 1/48 - 14
8-133879264-A-ATATT c.20_21insATTT p.T9Lfs*28 Frameshift 1/48 - 1
8-133879264-A-AT c.20dup p.F8Lfs*28 Frameshift 1/48 - 2
8-133879265-T-G c.20T>G p.I7S Missense 1/48 - 2
8-133879265-T-TTC c.20_21insTC p.F8Pfs*37 Frameshift 1/48 - 1
8-133879265-TC-GG c.20_21delinsGG p.I7R Missense 1/48 - 1
8-133879262-A-AGATGGAACCTACGGAGCCCATGGAACCTACGGAGCCCATGGAACCTACGGAGCC c.20_21insGGAACCTACGGAGCCCATGGAACCTACGGAGCCCATGGAACCTACGGAGCCGAT p.E6_I7insMEPTEPMEPTEPMEPTEP InFrameInsertion 1/48 - 1
8-133879264-A-ATGAGGGAAAGCCAGAGGATGAGGGAAGTACAG c.20_21insGAGGGAAAGCCAGAGGATGAGGGAAGTACAGT p.I7Mfs*48 Frameshift 1/48 - 1
8-133879265-ATCTTCACCCTGCT-A c.20_32del p.I7Rfs*33 Frameshift 1/48 - 1
8-133879264-A-ATGC c.20_21insGCT p.I7delinsML MultiAAMissense 1/48 - 1
8-133879264-A-ATT c.20_21insTT p.F8Sfs*37 Frameshift 1/48 - 1
8-133879266-C-T c.21C>T p.I7= Synonymous 1/48 - 14
8-133879266-C-G c.21C>G p.I7M Missense 1/48 - 6
8-133879264-ATCTTCACCC-A c.21_29del p.I7_L10delinsM MultiAAMissense 1/48 - 1
8-133879266-C-CGCCGCA c.21_22insGCCGCA p.I7_F8insAA InFrameInsertion 1/48 - 1
8-133879266-TC-T c.21del p.F8Sfs*36 Frameshift 1/48 - 3
8-133879266-C-A c.21C>A p.I7= Synonymous 1/48 - 8
8-133879265-T-TC c.21dup p.F8Lfs*28 Frameshift 1/48 - 5
8-133879266-C-CA c.21_22insA p.F8Ifs*28 Frameshift 1/48 - 3
8-133879266-C-CG c.21_22insG p.F8Vfs*28 Frameshift 1/48 - 1
8-133879267-CTTCACCCTGCTGGCCTCCATCTGCTGGGTGTCGGCCAAT-C c.22_60del p.F8_N20del InFrameDeletion 1/48 - 1
8-133879267-CTTCACCCTG-C c.22_30del p.F8_L10del InFrameDeletion 1/48 - 1
8-133879267-T-TCCG c.22_23insCCG p.F8delinsSV MultiAAMissense 1/48 - 1
8-133879267-T-TCGGCGG c.22_23insCGGCGG p.F8delinsSAV MultiAAMissense 1/48 - 1
8-133879267-T-C c.22T>C p.F8L Missense 1/48 - 11
8-133879267-T-A c.22T>A p.F8I Missense 1/48 - 6
8-133879267-T-G c.22T>G p.F8V Missense 1/48 - 5
8-133879264-ATCT-A c.22_24del p.F8del InFrameDeletion 1/48 - 1
8-133879267-T-TC c.22_23insC p.F8Sfs*28 Frameshift 1/48 - 1
8-133879267-TT-GA c.22_23delinsGA p.F8D Missense 1/48 - 1
8-133879267-TT-GG c.22_23delinsGG p.F8G Missense 1/48 - 1
8-133879267-TT-AA c.22_23inv p.F8N Missense 1/48 - 1
8-133879267-TT-CA c.22_23delinsCA p.F8H Missense 1/48 - 1
8-133879267-TT-CC c.22_23delinsCC p.F8P Missense 1/48 - 1
8-133879267-TTC-AAG c.22_24delinsAAG p.F8K Missense 1/48 - 1
8-133879268-T-C c.23T>C p.F8S Missense 1/48 - 14
8-133879268-T-TGCCGCC c.23_24insGCCGCC p.F8delinsLPP MultiAAMissense 1/48 - 1
8-133879266-C-CTTAT c.23_24insATTT p.F8Lfs*29 Frameshift 1/48 - 1
8-133879268-T-G c.23T>G p.F8C Missense 1/48 - 5
8-133879268-TC-GG c.23_24delinsGG p.F8W Missense 1/48 - 1
8-133879268-T-TAAA c.23_24insAAA p.F8delinsLN MultiAAMissense 1/48 - 1
8-133879268-T-TA c.23_24insA p.F8Lfs*28 Frameshift 1/48 - 1
8-133879268-T-A c.23T>A p.F8Y Missense 1/48 - 4
8-133879266-C-CT c.23dup p.T9Hfs*27 Frameshift 1/48 - 2
8-133879268-T-TGACGAC c.23_24insGACGAC p.F8delinsLTT MultiAAMissense 1/48 - 1
8-133879266-CT-C c.23del p.F8Sfs*36 Frameshift 1/48 - 3
8-133879268-TC-AA c.23_24delinsAA p.F8* Nonsense 1/48 - 1
8-133879268-TTCACC-T c.23_27del p.F8Sfs*26 Frameshift 1/48 - 1
8-133879268-TTC-T c.23_24del p.F8Yfs*27 Frameshift 1/48 - 1
8-133879266-C-CTTCTT c.24_25insTTTTC p.T9Ffs*37 Frameshift 1/48 - 1
8-133879269-C-T c.24C>T p.F8= Synonymous 1/48 - 16
8-133879267-T-TTCTCGTCCGTC c.24_25insTCGTCCGTCTC p.T9Sfs*39 Frameshift 1/48 - 1
8-133879269-C-G c.24C>G p.F8L Missense 1/48 - 11
8-133879269-C-A c.24C>A p.F8L Missense 1/48 - 10
8-133879269-TC-T c.24del p.F8Lfs*36 Frameshift 1/48 - 3
8-133879267-TTCACCC-T c.24_29del p.F8_T9del InFrameDeletion 1/48 - 1
8-133879269-C-CCAGACCACAACTCCTG c.24_25insCAGACCACAACTCCTG p.T9Qfs*32 Frameshift 1/48 - 1
8-133879267-TTCACCCTGCTGGCCTCCATCTGC-T c.24_46del p.F8Lfs*20 Frameshift 1/48 - 1
8-133879269-C-CGGCTGTGGCTCCGGCTGTGGG c.24_25insGGCTGTGGCTCCGGCTGTGGG p.F8_T9insGCGSGCG InFrameInsertion 1/48 - 1
8-133879269-C-CG c.24_25insG p.T9Dfs*27 Frameshift 1/48 - 1
8-133879270-A-AT c.25_26insT p.T9Ifs*27 Frameshift 1/48 - 1
8-133879270-A-C c.25A>C p.T9P Missense 1/48 - 9
8-133879270-A-T c.25A>T p.T9S Missense 1/48 - 3
8-133879269-C-CA c.25dup p.T9Nfs*27 Frameshift 1/48 - 3
8-133879270-A-G c.25A>G p.T9A Missense 1/48 - 11
8-133879270-CA-C c.25del p.T9Pfs*35 Frameshift 1/48 - 1
8-133879270-ACC-GCT c.25_27delinsGCT p.T9A Missense 1/48 - 1
8-133879270-A-ATCCGC c.25_26insTCCGC p.T9Ifs*37 Frameshift 1/48 - 1
8-133879267-TTCACCCTGCTGGCC-T c.25_38del p.T9Hfs*22 Frameshift 1/48 - 1
8-133879270-ACC-TAA c.25_27delinsTAA p.T9* Nonsense 1/48 - 1
8-133879270-AC-GT c.25_26inv p.T9V Missense 1/48 - 1
8-133879270-ACC-GAG c.25_27delinsGAG p.T9E Missense 1/48 - 1
8-133879270-AC-CT c.25_26delinsCT p.T9L Missense 1/48 - 1
8-133879271-C-T c.26C>T p.T9I Missense 1/48 - 18
8-133879271-C-CG c.26_27insG p.L10Pfs*26 Frameshift 1/48 - 1
8-133879271-C-A c.26C>A p.T9N Missense 1/48 - 6
8-133879271-CC-AG c.26_27delinsAG p.T9K Missense 1/48 - 3
8-133879271-C-G c.26C>G p.T9S Missense 1/48 - 3
8-133879269-C-CACG c.26_27insGAC p.T9dup InFrameInsertion 1/48 - 1
8-133879271-CC-GG c.26_27inv p.T9R Missense 1/48 - 1
8-133879271-CC-TG c.26_27delinsTG p.T9M Missense 1/48 - 1
8-133879271-ACCCT-A c.26_29del p.T9Sfs*34 Frameshift 1/48 - 1
8-133879271-C-CAAGTCATACATTCACTCACAGGAAGTCAAATATACAATGCTTGATCAAGTTTCAGGTACAAAATATGTACTCG c.26_27insAAGTCATACATTCACTCACAGGAAGTCAAATATACAATGCTTGATCAAGTTTCAGGTACAAAATATGTACTCG p.L10Sfs*50 Frameshift 1/48 - 1
8-133879272-C-CTTTTTTT c.27_28insTTTTTTT p.L10Ffs*28 Frameshift 1/48 - 1
8-133879270-A-ACCT c.27_28insTCC p.T9_L10insS InFrameInsertion 1/48 - 1
8-133879272-CCCTGCTG-C c.27_33del p.L10Pfs*32 Frameshift 1/48 - 1
8-133879272-C-T c.27C>T p.T9= Synonymous 1/48 - 17
8-133879272-C-G c.27C>G p.T9= Synonymous 1/48 - 7
8-133879272-C-A c.27C>A p.T9= Synonymous 1/48 - 8
8-133879272-C-CG c.27_28insG p.L10Afs*26 Frameshift 1/48 - 1
8-133879272-C-CTGAAAG c.27_28insTGAAAG p.T9_L10ins* Nonsense 1/48 - 1
8-133879272-CCCTGCTGGCCTCCATCTGCTGGGTGTCGGCCAATATCTTCGGTAAGTTCTGAGGCCATG-C c.27_67+18del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879271-C-CCTGTGGCTATGGCTCCAGCTATGG c.27_28insTGTGGCTATGGCTCCAGCTATGGC p.T9_L10insCGYGSSYG InFrameInsertion 1/48 - 1
8-133879273-CT-GC c.28_29delinsGC p.L10A Missense 1/48 - 14
8-133879273-CTG-TTT c.28_30delinsTTT p.L10F Missense 1/48 - 9
8-133879273-CT-AA c.28_29delinsAA p.L10K Missense 1/48 - 7
8-133879273-CTG-TGT c.28_30delinsTGT p.L10C Missense 1/48 - 3
8-133879273-C-T c.28C>T p.L10= Synonymous 1/48 - 19
8-133879273-C-G c.28C>G p.L10V Missense 1/48 - 11
8-133879270-A-AC c.28dup p.L10Pfs*26 Frameshift 1/48 - 6
8-133879270-AC-A c.28del p.L10Cfs*34 Frameshift 1/48 - 6
8-133879273-CT-TA c.28_29delinsTA p.L10* Nonsense 1/48 - 4
8-133879273-C-A c.28C>A p.L10M Missense 1/48 - 7
8-133879273-CTG-ATC c.28_30delinsATC p.L10I Missense 1/48 - 5
8-133879273-CT-TC c.28_29delinsTC p.L10S Missense 1/48 - 3
8-133879273-CT-GA c.28_29delinsGA p.L10E Missense 1/48 - 6
8-133879272-C-CCCGCAA c.28_29insCGCAAC p.T9_L10insPQ InFrameInsertion 1/48 - 1
8-133879272-C-CCCCTGTGTCTCTGT c.28_29insCCTGTGTCTCTGTC p.L10Pfs*39 Frameshift 1/48 - 1
8-133879273-C-CA c.28_29insA p.L10Hfs*26 Frameshift 1/48 - 2
8-133879273-CTG-GAC c.28_30delinsGAC p.L10D Missense 1/48 - 1
8-133879273-CCTGCTGGCCTCCATCTGCTGG-C c.28_48del p.L10_W16del InFrameDeletion 1/48 - 1
8-133879274-T-TATGA c.29_30insATGA p.L11* Nonsense 1/48 - 1
8-133879274-CTGCTGGCCTCCATCTGCT-C c.29_46del p.L10_W16delinsR MultiAAMissense 1/48 - 1
8-133879274-T-C c.29T>C p.L10P Missense 1/48 - 26
8-133879274-T-G c.29T>G p.L10R Missense 1/48 - 11
8-133879274-T-A c.29T>A p.L10Q Missense 1/48 - 5
8-133879274-CT-C c.29del p.L10Rfs*34 Frameshift 1/48 - 1
8-133879273-C-CT c.29dup p.L11Afs*25 Frameshift 1/48 - 2
8-133879274-TG-AT c.29_30delinsAT p.L10H Missense 1/48 - 1
8-133879273-C-CTT c.29_30insTT p.L11Cfs*34 Frameshift 1/48 - 1
8-133879273-C-CTGG c.30_31insGTG p.L10_L11insV InFrameInsertion 1/48 - 1
8-133879275-G-C c.30G>C p.L10= Synonymous 1/48 - 9
8-133879274-T-TG c.30dup p.L11Afs*25 Frameshift 1/48 - 4
8-133879275-G-A c.30G>A p.L10= Synonymous 1/48 - 14
8-133879275-G-T c.30G>T p.L10= Synonymous 1/48 - 9
8-133879275-G-GATTCAAACTTCAGTCTTCTCCAGTTGAGTAACTGAT c.30_31insATTCAAACTTCAGTCTTCTCCAGTTGAGTAACTGAT p.L10_L11insIQTSVFSS* Frameshift 1/48 - 1
8-133879274-T-TGA c.30_31insAG p.L11Sfs*34 Frameshift 1/48 - 1
8-133879275-G-GAA c.30_31insAA p.L11Nfs*34 Frameshift 1/48 - 1
8-133879275-TG-T c.30del p.L11Wfs*33 Frameshift 1/48 - 3
8-133879272-CCTG-C c.31_33del p.L11del InFrameDeletion 1/48 - 7
8-133879276-CT-GC c.31_32delinsGC p.L11A Missense 1/48 - 2
8-133879276-GCTGGCCTCCATCTGC-G c.31_45del p.L11_C15del InFrameDeletion 1/48 - 1
8-133879276-GC-G c.31del p.L11Wfs*33 Frameshift 1/48 - 1
8-133879276-C-A c.31C>A p.L11M Missense 1/48 - 11
8-133879275-G-GC c.31dup p.L11Pfs*25 Frameshift 1/48 - 1
8-133879276-C-G c.31C>G p.L11V Missense 1/48 - 9
8-133879276-CT-AA c.31_32delinsAA p.L11K Missense 1/48 - 2
8-133879276-CTG-TAT c.31_33delinsTAT p.L11Y Missense 1/48 - 2
8-133879276-CTG-TTT c.31_33delinsTTT p.L11F Missense 1/48 - 9
8-133879276-CT-TA c.31_32delinsTA p.L11* Nonsense 1/48 - 3
8-133879276-CT-TC c.31_32delinsTC p.L11S Missense 1/48 - 2
8-133879276-CT-TG c.31_32delinsTG p.L11W Missense 1/48 - 1
8-133879276-CTG-ATC c.31_33delinsATC p.L11I Missense 1/48 - 2
8-133879275-G-GCAAATCGGAAGAGCACACGTCTGAA c.31_32insAAATCGGAAGAGCACACGTCTGAAC p.L11Qfs*8 Frameshift 1/48 - 1
8-133879273-C-CTGCAGTACTACCTGAACGCCGCCCCCGGCCCGATGGGCGCGGTGAACCTT c.31_32insAGTACTACCTGAACGCCGCCCCCGGCCCGATGGGCGCGGTGAACCTTTGC p.L11Qfs*50 Frameshift 1/48 - 1
8-133879277-T-C c.32T>C p.L11P Missense 1/48 - 16
8-133879277-T-TA c.32_33insA p.A12Gfs*24 Frameshift 1/48 - 2
8-133879277-CT-C c.32del p.L11Rfs*33 Frameshift 1/48 - 5
8-133879274-TGCTG-T c.32_35del p.L11Pfs*32 Frameshift 1/48 - 1
8-133879277-T-G c.32T>G p.L11R Missense 1/48 - 6
8-133879276-C-CTTAT c.32_33insTATT p.A12Ifs*25 Frameshift 1/48 - 1
8-133879276-C-CTCTATAT c.32_33insCTATATT p.A12Yfs*26 Frameshift 1/48 - 1
8-133879277-T-A c.32T>A p.L11Q Missense 1/48 - 4
8-133879277-T-TACGA c.32_33insACGA p.A12Rfs*25 Frameshift 1/48 - 1
8-133879277-CTGGCCTCCATCTGCT-C c.32_46del p.L11_W16delinsR MultiAAMissense 1/48 - 1
8-133879277-TG-A c.32_33delinsA p.L11Qfs*33 Frameshift 1/48 - 1
8-133879277-TG-AT c.32_33delinsAT p.L11H Missense 1/48 - 2
8-133879278-G-C c.33G>C p.L11= Synonymous 1/48 - 14
8-133879278-G-A c.33G>A p.L11= Synonymous 1/48 - 16
8-133879278-G-T c.33G>T p.L11= Synonymous 1/48 - 14
8-133879276-C-T c.31C>T p.L11= Synonymous 1/48 - 19
8-133879278-G-GCACA c.33_34insCACA p.A12Hfs*25 Frameshift 1/48 - 1
8-133879278-TGG-T c.33_34del p.A12Lfs*23 Frameshift 1/48 - 1
8-133879278-TGGCCTCCA-T c.33_40del p.A12Lfs*21 Frameshift 1/48 - 1
8-133879278-G-GCTGCTC c.33_34insCTGCTC p.L10_L11dup InFrameInsertion 1/48 - 1
8-133879279-GCC-AAG c.34_36delinsAAG p.A12K Missense 1/48 - 4
8-133879279-G-C c.34G>C p.A12P Missense 1/48 - 13
8-133879279-G-A c.34G>A p.A12T Missense 1/48 - 32
8-133879279-GCC-ATG c.34_36delinsATG p.A12M Missense 1/48 - 6
8-133879279-GCC-CAA c.34_36delinsCAA p.A12Q Missense 1/48 - 9
8-133879279-GC-TT c.34_35delinsTT p.A12F Missense 1/48 - 13
8-133879279-GC-CT c.34_35delinsCT p.A12L Missense 1/48 - 5
8-133879279-GC-TA c.34_35delinsTA p.A12Y Missense 1/48 - 2
8-133879279-GCC-TAA c.34_36delinsTAA p.A12* Nonsense 1/48 - 5
8-133879279-GCC-TGG c.34_36delinsTGG p.A12W Missense 1/48 - 9
8-133879279-G-GTCGCCC c.34_35insTCGCCC p.A12delinsVAP MultiAAMissense 1/48 - 1
8-133879277-TG-T c.34del p.A12Pfs*32 Frameshift 1/48 - 7
8-133879279-G-T c.34G>T p.A12S Missense 1/48 - 11
8-133879279-GC-TG c.34_35delinsTG p.A12C Missense 1/48 - 3
8-133879278-G-GGA c.34_35insAG p.A12Efs*33 Frameshift 1/48 - 1
8-133879277-T-TG c.34dup p.A12Gfs*24 Frameshift 1/48 - 6
8-133879279-G-GACCTGCTGCAGGACC c.34_35insACCTGCTGCAGGACC p.A12delinsDLLQDP MultiAAMissense 1/48 - 1
8-133879277-T-TGGAGGAGGA c.34_35insAGGAGGAGG p.L11_A12insEEE InFrameInsertion 1/48 - 1
8-133879279-GC-CA c.34_35delinsCA p.A12H Missense 1/48 - 1
8-133879279-GC-AA c.34_35delinsAA p.A12N Missense 1/48 - 2
8-133879279-GC-AT c.34_35delinsAT p.A12I Missense 1/48 - 1
8-133879280-CC-AG c.35_36delinsAG p.A12E Missense 1/48 - 9
8-133879280-C-G c.35C>G p.A12G Missense 1/48 - 16
8-133879280-C-A c.35C>A p.A12D Missense 1/48 - 15
8-133879280-C-T c.35C>T p.A12V Missense 1/48 - 20
8-133879280-C-CGA c.35_36insGA p.S13Tfs*32 Frameshift 1/48 - 2
8-133879280-C-CA c.35_36insA p.S13Lfs*23 Frameshift 1/48 - 1
8-133879279-G-GCACA c.35_36insACAC p.S13Hfs*24 Frameshift 1/48 - 1
8-133879279-G-GCTGAT c.35_36insTGATC p.S13Dfs*33 Frameshift 1/48 - 1
8-133879280-GCCTCCATCT-G c.35_43del p.A12_C15delinsG MultiAAMissense 1/48 - 1
8-133879280-C-CGGAGGA c.35_36insGGAGGA p.A12_S13insED InFrameInsertion 1/48 - 1
8-133879280-C-CACACAGAGACAGATCATCAATGCACAGGGAGAGGCCCGGCTGCCAG c.35_36insACACAGAGACAGATCATCAATGCACAGGGAGAGGCCCGGCTGCCAG p.S13Hfs*38 Frameshift 1/48 - 1
8-133879280-GCC-G c.35_36del p.A12Vfs*23 Frameshift 1/48 - 1
8-133879281-C-A c.36C>A p.A12= Synonymous 1/48 - 34
8-133879281-C-G c.36C>G p.A12= Synonymous 1/48 - 26
8-133879281-C-T c.36C>T p.A12= Synonymous 1/48 - 36
8-133879280-C-CCGGAGT c.36_37insGGAGTC p.A12_S13insGV InFrameInsertion 1/48 - 1
8-133879279-GC-G c.36del p.S13Pfs*31 Frameshift 1/48 - 5
8-133879279-G-GC c.36dup p.S13Lfs*23 Frameshift 1/48 - 6
8-133879281-C-CCCGTTGCAG c.36_37insCCGTTGCAG p.A12_S13insPLQ InFrameInsertion 1/48 - 1
8-133879277-TGGCCTCCATCTGCTGGGTGTCGGCCAATATCTTCGGTAAGTTCTGAGGCCATGGAGCCA-T c.36_67+27del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879281-CCTCCATCTGCTGGGT-C c.36_50del p.I14_S18del InFrameDeletion 1/48 - 1
8-133879281-C-CG c.36_37insG p.S13Vfs*23 Frameshift 1/48 - 1
8-133879282-T-G c.37T>G p.S13A Missense 1/48 - 129
8-133879282-TC-GA c.37_38inv p.S13D Missense 1/48 - 36
8-133879282-T-A c.37T>A p.S13T Missense 1/48 - 7
8-133879282-TCC-GAG c.37_39delinsGAG p.S13E Missense 1/48 - 26
8-133879279-GCCT-G c.37_39del p.S13del InFrameDeletion 1/48 - 4
8-133879282-TC-CT c.37_38delinsCT p.S13L Missense 1/48 - 7
8-133879282-TC-CA c.37_38delinsCA p.S13H Missense 1/48 - 5
8-133879282-TCC-AAG c.37_39delinsAAG p.S13K Missense 1/48 - 3
8-133879282-TC-GG c.37_38delinsGG p.S13G Missense 1/48 - 10
8-133879280-CCT-C c.37_38del p.S13Hfs*22 Frameshift 1/48 - 1
8-133879282-TC-AT c.37_38delinsAT p.S13I Missense 1/48 - 14
8-133879282-TC-AA c.37_38delinsAA p.S13N Missense 1/48 - 6
8-133879282-T-C c.37T>C p.S13P Missense 1/48 - 9
8-133879282-TC-CG c.37_38delinsCG p.S13R Missense 1/48 - 3
8-133879281-C-CTACGTAG c.37_38insACGTAGT p.S13Yfs*25 Frameshift 1/48 - 1
8-133879282-T-TA c.37_38insA p.S13Yfs*23 Frameshift 1/48 - 1
8-133879282-T-TGCAGCAACAGCAGCAGCAGCA c.37_38insGCAGCAACAGCAGCAGCAGCA p.S13delinsCSNSSSST MultiAAMissense 1/48 - 1
8-133879282-CTCCATCTGCTGG-C c.37_48del p.S13_W16del InFrameDeletion 1/48 - 1
8-133879282-CTCCATCTGCTGGGTGTCG-C c.37_54del p.S13_S18del InFrameDeletion 1/48 - 3
8-133879282-CT-C c.37del p.S13Pfs*31 Frameshift 1/48 - 1
8-133879282-TCC-ATG c.37_39delinsATG p.S13M Missense 1/48 - 2
8-133879282-T-TTCTTCATCCACGGC c.37_38insTCTTCATCCACGGC p.S13Ffs*36 Frameshift 1/48 - 1
8-133879282-TC-GT c.37_38delinsGT p.S13V Missense 1/48 - 1
8-133879281-C-CTA c.37_38insAT p.S13Yfs*32 Frameshift 1/48 - 1
8-133879283-C-G c.38C>G p.S13C Missense 1/48 - 68
8-133879283-C-T c.38C>T p.S13F Missense 1/48 - 32
8-133879283-C-A c.38C>A p.S13Y Missense 1/48 - 8
8-133879283-TCCATCTGCTG-T c.38_47del p.S13Wfs*28 Frameshift 1/48 - 1
8-133879283-CC-AA c.38_39delinsAA p.S13* Nonsense 1/48 - 3
8-133879280-CCTCCATCTG-C c.38_46del p.S13_C15del InFrameDeletion 1/48 - 1
8-133879283-CC-GG c.38_39inv p.S13W Missense 1/48 - 1
8-133879283-C-CGCAAGATATAGA c.38_39insGCAAGATATAGA p.S13_I14insQDID InFrameInsertion 1/48 - 1
8-133879284-C-G c.39C>G p.S13= Synonymous 1/48 - 16
8-133879284-C-T c.39C>T p.S13= Synonymous 1/48 - 23
8-133879284-C-A c.39C>A p.S13= Synonymous 1/48 - 17
8-133879282-TC-T c.39del p.I14Sfs*30 Frameshift 1/48 - 5
8-133879282-T-TC c.39dup p.I14Hfs*22 Frameshift 1/48 - 5
8-133879284-C-CG c.39_40insG p.I14Dfs*22 Frameshift 1/48 - 1
8-133879284-CCATCTGCTGGGTGTCG-C c.39_54del p.I14Pfs*25 Frameshift 1/48 - 1
8-133879284-C-CA c.40dup p.I14Nfs*22 Frameshift 1/48 - 3
8-133879285-A-ACGCCGC c.40_41insCGCCGC p.I14delinsTPL MultiAAMissense 1/48 - 1
8-133879285-A-AAT c.40_41insAT p.I14Nfs*31 Frameshift 1/48 - 1
8-133879285-ATC-TAA c.40_42delinsTAA p.I14* Nonsense 1/48 - 2
8-133879285-A-G c.40A>G p.I14V Missense 1/48 - 11
8-133879285-CA-C c.40del p.I14Sfs*30 Frameshift 1/48 - 3
8-133879285-ATC-CTT c.40_42delinsCTT p.I14L Missense 1/48 - 1
8-133879285-A-T c.40A>T p.I14F Missense 1/48 - 5
8-133879285-A-C c.40A>C p.I14L Missense 1/48 - 4
8-133879285-CATCTGCTGGGTGTCGGCCAATA-C c.40_61del p.I14Sfs*23 Frameshift 1/48 - 1
8-133879285-AT-GA c.40_41delinsGA p.I14D Missense 1/48 - 1
8-133879285-AT-GC c.40_41delinsGC p.I14A Missense 1/48 - 3
8-133879285-AT-TG c.40_41delinsTG p.I14C Missense 1/48 - 1
8-133879283-C-CCAA c.40_41insACA p.S13_I14insN InFrameInsertion 1/48 - 1
8-133879285-A-ATT c.41_42insTT p.C15Sfs*30 Frameshift 1/48 - 1
8-133879286-T-C c.41T>C p.I14T Missense 1/48 - 12
8-133879285-A-AT c.41dup p.C15Lfs*21 Frameshift 1/48 - 3
8-133879286-AT-A c.41del p.I14Tfs*30 Frameshift 1/48 - 2
8-133879286-T-A c.41T>A p.I14N Missense 1/48 - 4
8-133879286-T-G c.41T>G p.I14S Missense 1/48 - 3
8-133879286-TC-AG c.41_42delinsAG p.I14K Missense 1/48 - 1
8-133879286-TC-GG c.41_42delinsGG p.I14R Missense 1/48 - 1
8-133879285-ATC-A c.42_43del p.I14Mfs*21 Frameshift 1/48 - 1
8-133879287-C-A c.42C>A p.I14= Synonymous 1/48 - 15
8-133879287-C-T c.42C>T p.I14= Synonymous 1/48 - 16
8-133879287-C-G c.42C>G p.I14M Missense 1/48 - 8
8-133879287-TCTGCTGGGTGTC-T c.42_53del p.I14_S18delinsM MultiAAMissense 1/48 - 1
8-133879287-C-CGG c.42_43insGG p.C15Gfs*30 Frameshift 1/48 - 1
8-133879286-T-TC c.42dup p.C15Lfs*21 Frameshift 1/48 - 1
8-133879286-T-TCA c.42_43insAC p.C15Tfs*30 Frameshift 1/48 - 1
8-133879287-CTG-TA c.42_44delinsTA p.C15Tfs*29 Frameshift 1/48 - 1
8-133879285-ATCTGC-A c.42_46del p.I14Mfs*20 Frameshift 1/48 - 1
8-133879287-TC-T c.42del p.C15Afs*29 Frameshift 1/48 - 1
8-133879288-TG-AA c.43_44delinsAA p.C15N Missense 1/48 - 3
8-133879288-T-TAA c.43_44insAA p.C15* Nonsense 1/48 - 2
8-133879288-CT-C c.43del p.C15Afs*29 Frameshift 1/48 - 3
8-133879288-TG-AC c.43_44delinsAC p.C15T Missense 1/48 - 4
8-133879288-T-C c.43T>C p.C15R Missense 1/48 - 11
8-133879288-CTG-C c.43_44del p.C15Lfs*20 Frameshift 1/48 - 1
8-133879288-TG-CA c.43_44inv p.C15H Missense 1/48 - 7
8-133879288-TG-GC c.43_44delinsGC p.C15A Missense 1/48 - 7
8-133879288-T-G c.43T>G p.C15G Missense 1/48 - 8
8-133879288-TGC-AAG c.43_45delinsAAG p.C15K Missense 1/48 - 1
8-133879288-T-A c.43T>A p.C15S Missense 1/48 - 9
8-133879289-G-C c.44G>C p.C15S Missense 1/48 - 12
8-133879288-TG-AT c.43_44delinsAT p.C15I Missense 1/48 - 3
8-133879288-TGC-GAG c.43_45delinsGAG p.C15E Missense 1/48 - 3
8-133879288-CTGCTGGGTGT-C c.43_52del p.C15Rfs*26 Frameshift 1/48 - 1
8-133879288-T-TC c.43_44insC p.C15Sfs*21 Frameshift 1/48 - 1
8-133879288-T-TTGGG c.43_44insTGGG p.C15Lfs*22 Frameshift 1/48 - 1
8-133879288-T-TTGCTGCTGC c.43_44insTGCTGCTGC p.C15delinsLLLR MultiAAMissense 1/48 - 1
8-133879288-TGC-ATG c.43_45delinsATG p.C15M Missense 1/48 - 1
8-133879289-G-GGGCGCA c.44_45insGGCGCA p.C15delinsWAH MultiAAMissense 1/48 - 1
8-133879289-G-A c.44G>A p.C15Y Missense 1/48 - 18
8-133879289-G-T c.44G>T p.C15F Missense 1/48 - 10
8-133879289-TG-T c.44del p.C15Sfs*29 Frameshift 1/48 - 3
8-133879288-T-TG c.44dup p.C15Wfs*21 Frameshift 1/48 - 2
8-133879289-G-GAA c.44_45insAA p.C15* Nonsense 1/48 - 1
8-133879289-G-GGCCGATGCT c.44_45insGCCGATGCT p.C15delinsWPML MultiAAMissense 1/48 - 1
8-133879289-G-GTACGGAGCCCATGGAACCTACGGAGCCCCATGGAACC c.44_45insTACGGAGCCCATGGAACCTACGGAGCCCCATGGAACC p.W16Tfs*32 Frameshift 1/48 - 1
8-133879289-G-GTACGGAGCCGATGGAACCTACGGAGCCCCATGGAACC c.44_45insTACGGAGCCGATGGAACCTACGGAGCCCCATGGAACC p.W16Tfs*32 Frameshift 1/48 - 1
8-133879289-G-GTACGGAGCCCATGGAACCTACGGAGCGCCATGGAACC c.44_45insTACGGAGCCCATGGAACCTACGGAGCGCCATGGAACC p.W16Tfs*32 Frameshift 1/48 - 1
8-133879286-T-TCTGA c.44_45insACTG p.C15* Nonsense 1/48 - 1
8-133879289-G-GT c.44_45insT p.W16Lfs*20 Frameshift 1/48 - 1
8-133879290-C-T c.45C>T p.C15= Synonymous 1/48 - 18
8-133879290-C-A c.45C>A p.C15* Nonsense 1/48 - 11
8-133879290-GCTGGGT-G c.45_50del p.C15_V17delinsW MultiAAMissense 1/48 - 1
8-133879290-GC-G c.45del p.W16Gfs*28 Frameshift 1/48 - 4
8-133879290-C-G c.45C>G p.C15W Missense 1/48 - 5
8-133879289-G-GC c.45dup p.W16Lfs*20 Frameshift 1/48 - 3
8-133879288-TGCTG-T c.45_48del p.C15Wfs*28 Frameshift 1/48 - 1
8-133879286-TCTG-T c.45_47del p.C15del InFrameDeletion 1/48 - 1
8-133879289-G-GCACGGAGCCGATGGAACCTACGGAGCCCCATGGAACC c.45_46insACGGAGCCGATGGAACCTACGGAGCCCCATGGAACCC p.W16Tfs*32 Frameshift 1/48 - 1
8-133879291-T-A c.46T>A p.W16R Missense 1/48 - 6
8-133879291-T-C c.46T>C p.W16R Missense 1/48 - 9
8-133879291-CT-C c.46del p.W16Gfs*28 Frameshift 1/48 - 3
8-133879291-T-TCGG c.46_47insCGG p.W16delinsSG MultiAAMissense 1/48 - 1
8-133879291-CTGGGTGT-C c.46_52del p.W16Rfs*26 Frameshift 1/48 - 1
8-133879291-CTG-C c.46_47del p.W16Gfs*19 Frameshift 1/48 - 2
8-133879291-T-G c.46T>G p.W16G Missense 1/48 - 7
8-133879290-C-CT c.46dup p.W16Lfs*20 Frameshift 1/48 - 1
8-133879291-T-TA c.46_47insA p.W16* Nonsense 1/48 - 1
8-133879291-T-TTTGCA c.46_47insTTGCA p.W16Ffs*30 Frameshift 1/48 - 1
8-133879291-T-TACCCTA c.46_47insACCCTA p.W16delinsYPR MultiAAMissense 1/48 - 1
8-133879291-CTGGGTGTCG-C c.46_54del p.W16_S18del InFrameDeletion 1/48 - 1
8-133879291-T-TTGGG c.46_47insTGGG p.W16Lfs*21 Frameshift 1/48 - 1
8-133879291-TG-GC c.46_47delinsGC p.W16A Missense 1/48 - 1
8-133879292-G-A c.47G>A p.W16* Nonsense 1/48 - 18
8-133879292-G-C c.47G>C p.W16S Missense 1/48 - 10
8-133879289-GCTGGGTGTCGGCCAATAT-G c.47_64del p.W16_I21del InFrameDeletion 1/48 - 1
8-133879292-TGGGTGTCGGCCAATATCTTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGG-T c.47_67+38del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879292-G-T c.47G>T p.W16L Missense 1/48 - 5
8-133879292-GG-TT c.47_48delinsTT p.W16F Missense 1/48 - 1
8-133879291-T-TGTGG c.47_48insTGGG p.W16Cfs*21 Frameshift 1/48 - 1
8-133879292-G-GACTGCA c.47_48insACTGCA p.W16delins* Nonsense 1/48 - 1
8-133879293-G-A c.48G>A p.W16* Nonsense 1/48 - 16
8-133879293-GGGTGTCGGCCAA-G c.48_59del p.W16_N20delinsC MultiAAMissense 1/48 - 1
8-133879293-G-T c.48G>T p.W16C Missense 1/48 - 9
8-133879293-G-GCTATATT c.48_49insCTATATT p.V17Lfs*21 Frameshift 1/48 - 1
8-133879293-G-C c.48G>C p.W16C Missense 1/48 - 4
8-133879293-GGGTGTCGGCCAATAT-G c.48_62del p.W16_I21delinsC MultiAAMissense 1/48 - 1
8-133879294-G-A c.49G>A p.V17M Missense 1/48 - 20
8-133879291-T-TG c.49dup p.V17Gfs*19 Frameshift 1/48 - 3
8-133879291-TG-T c.49del p.V17Cfs*27 Frameshift 1/48 - 9
8-133879294-GTG-ATC c.49_51delinsATC p.V17I Missense 1/48 - 18
8-133879294-G-GCGGCGGCGA c.49_50insCGGCGGCGA p.V17delinsAAAM MultiAAMissense 1/48 - 1
8-133879293-G-GGCC c.49_50insCCG p.W16_V17insA InFrameInsertion 1/48 - 1
8-133879294-G-C c.49G>C p.V17L Missense 1/48 - 11
8-133879294-G-T c.49G>T p.V17L Missense 1/48 - 12
8-133879294-GTG-TTT c.49_51delinsTTT p.V17F Missense 1/48 - 2
8-133879294-GT-TA c.49_50delinsTA p.V17* Nonsense 1/48 - 3
8-133879294-G-GTATTATTAC c.50_51insATTATTACT p.V17_S18insLLL InFrameInsertion 1/48 - 1
8-133879295-T-TA c.50_51insA p.S18Vfs*18 Frameshift 1/48 - 2
8-133879294-G-GT c.50dup p.S18Vfs*18 Frameshift 1/48 - 2
8-133879295-T-C c.50T>C p.V17A Missense 1/48 - 11
8-133879295-GT-G c.50del p.V17Gfs*27 Frameshift 1/48 - 3
8-133879295-T-A c.50T>A p.V17E Missense 1/48 - 5
8-133879295-T-G c.50T>G p.V17G Missense 1/48 - 4
8-133879295-T-TC c.50_51insC p.S18Vfs*18 Frameshift 1/48 - 1
8-133879295-T-TTC c.50_51insTC p.S18Rfs*27 Frameshift 1/48 - 1
8-133879295-T-TAA c.50_51insAA p.A19Rfs*26 Frameshift 1/48 - 1
8-133879295-T-TAGTGCCGGCCGCGGGGCCCTGTCTATAAG c.50_51insAGTGCCGGCCGCGGGGCCCTGTCTATAAG p.S18Vfs*9 Frameshift 1/48 - 1
8-133879296-TG-T c.51del p.S18Rfs*26 Frameshift 1/48 - 3
8-133879296-G-C c.51G>C p.V17= Synonymous 1/48 - 8
8-133879296-G-A c.51G>A p.V17= Synonymous 1/48 - 14
8-133879296-G-T c.51G>T p.V17= Synonymous 1/48 - 11
8-133879296-TGTCGGC-T c.51_56del p.S18_A19del InFrameDeletion 1/48 - 1
8-133879294-GTGTCGGCCAATATC-G c.51_64del p.S18Rfs*13 Frameshift 1/48 - 1
8-133879294-GTGTCGGCCAATA-G c.51_62del p.S18_I21del InFrameDeletion 1/48 - 2
8-133879295-T-TGCTGCG c.51_52insCTGCGG p.V17_S18insLR InFrameInsertion 1/48 - 1
8-133879295-T-TGCA c.51_52insCAG p.V17_S18insQ InFrameInsertion 1/48 - 1
8-133879296-G-GCCTGCTCACACA c.51_52insCCTGCTCACACA p.V17_S18insPAHT InFrameInsertion 1/48 - 1
8-133879297-T-G c.52T>G p.S18A Missense 1/48 - 64
8-133879297-TC-GA c.52_53inv p.S18E Missense 1/48 - 7
8-133879296-G-GTTATTACTAT c.52_53insTATTACTATT p.S18Lfs*21 Frameshift 1/48 - 1
8-133879297-T-TTTCTTTC c.52_53insTTCTTTC p.S18Ffs*20 Frameshift 1/48 - 1
8-133879297-TCG-GAC c.52_54delinsGAC p.S18D Missense 1/48 - 14
8-133879295-TGTC-T c.52_54del p.S18del InFrameDeletion 1/48 - 2
8-133879297-T-TGAG c.52_53insGAG p.S18delins* Nonsense 1/48 - 1
8-133879297-TC-GG c.52_53delinsGG p.S18G Missense 1/48 - 11
8-133879297-T-A c.52T>A p.S18T Missense 1/48 - 6
8-133879297-TC-GT c.52_53delinsGT p.S18V Missense 1/48 - 1
8-133879297-TCG-CAT c.52_54delinsCAT p.S18H Missense 1/48 - 1
8-133879297-GT-G c.52del p.S18Rfs*26 Frameshift 1/48 - 5
8-133879297-T-C c.52T>C p.S18P Missense 1/48 - 13
8-133879297-TCG-AAC c.52_54delinsAAC p.S18N Missense 1/48 - 5
8-133879297-T-TATTCTTCA c.52_53insATTCTTCA p.S18Yfs*29 Frameshift 1/48 - 1
8-133879296-G-GTGCCCATGTGGAGTGCCCGCCTGCTCACACA c.52_53insGCCCATGTGGAGTGCCCGCCTGCTCACACAT p.S18Cfs*28 Frameshift 1/48 - 2
8-133879296-G-GT c.52dup p.S18Ffs*18 Frameshift 1/48 - 3
8-133879297-TC-AG c.52_53delinsAG p.S18R Missense 1/48 - 3
8-133879297-TCG-ATC c.52_54delinsATC p.S18I Missense 1/48 - 3
8-133879297-TC-AA c.52_53delinsAA p.S18K Missense 1/48 - 1
8-133879297-GTCGGCCAATATCTTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTC-G c.52_67+43del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879297-GTC-G c.52_53del p.S18Gfs*17 Frameshift 1/48 - 1
8-133879297-T-TACA c.52_53insACA p.S18delinsYT MultiAAMissense 1/48 - 1
8-133879297-TCG-GGTGCA c.52_54delinsGGTGCA p.S18delinsGA MultiAAMissense 1/48 - 1
8-133879297-T-TG c.52_53insG p.S18Cfs*18 Frameshift 1/48 - 1
8-133879298-CG-AT c.53_54delinsAT p.S18Y Missense 1/48 - 5
8-133879297-T-TCTG c.53_54insTGC p.A19dup InFrameInsertion 1/48 - 1
8-133879298-C-CCG c.53_54insCG p.A19Gfs*26 Frameshift 1/48 - 1
8-133879298-CG-GT c.53_54delinsGT p.S18C Missense 1/48 - 22
8-133879298-C-T c.53C>T p.S18L Missense 1/48 - 20
8-133879298-C-CTTTTTTTTTTA c.53_54insTTTTTTTTTTA p.A19Ffs*29 Frameshift 1/48 - 1
8-133879298-TCGGCCA-T c.53_58del p.S18_N20delinsY MultiAAMissense 1/48 - 1
8-133879298-TCG-T c.53_54del p.S18Cfs*17 Frameshift 1/48 - 2
8-133879298-CG-TT c.53_54delinsTT p.S18F Missense 1/48 - 13
8-133879297-T-TCCTC c.53_54insCTCC p.A19Sfs*18 Frameshift 1/48 - 1
8-133879298-C-G c.53C>G p.S18W Missense 1/48 - 6
8-133879298-C-A c.53C>A p.S18* Nonsense 1/48 - 9
8-133879296-G-GTCTGCC c.53_54insTGCCTC p.S18_A19dup InFrameInsertion 1/48 - 1
8-133879298-TC-T c.53del p.S18Wfs*26 Frameshift 1/48 - 3
8-133879296-GTCGGCCAATATC-G c.53_64del p.S18_I21del InFrameDeletion 1/48 - 1
8-133879297-T-TC c.53dup p.A19Gfs*17 Frameshift 1/48 - 1
8-133879299-G-GT c.54_55insT p.A19Cfs*17 Frameshift 1/48 - 2
8-133879299-G-A c.54G>A p.S18= Synonymous 1/48 - 21
8-133879298-C-CGTATTTTGTTTTT c.54_55insTATTTTGTTTTTG p.A19Yfs*21 Frameshift 1/48 - 1
8-133879299-G-GACTGGA c.54_55insACTGGA p.S18_A19insTG InFrameInsertion 1/48 - 1
8-133879299-G-C c.54G>C p.S18= Synonymous 1/48 - 15
8-133879299-G-GTATT c.54_55insTATT p.A19Yfs*18 Frameshift 1/48 - 1
8-133879299-G-T c.54G>T p.S18= Synonymous 1/48 - 16
8-133879297-TCGGC-T c.54_57del p.A19Ifs*24 Frameshift 1/48 - 1
8-133879299-G-GCCA c.54_55insCCA p.S18_A19insP InFrameInsertion 1/48 - 1
8-133879299-CGGCCAATATCTTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTCCA-C c.55_67+46del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879299-CGG-C c.54_55del p.A19Qfs*16 Frameshift 1/48 - 1
8-133879298-C-CGTTGTTGTTG c.54_55insTTGTTGTTGG p.A19Lfs*20 Frameshift 1/48 - 1
8-133879300-GC-TG c.55_56delinsTG p.A19C Missense 1/48 - 3
8-133879299-G-GGTT c.55_56insTTG p.S18_A19insV InFrameInsertion 1/48 - 1
8-133879300-G-A c.55G>A p.A19T Missense 1/48 - 25
8-133879298-CG-C c.55del p.A19Pfs*25 Frameshift 1/48 - 8
8-133879300-GC-TA c.55_56delinsTA p.A19Y Missense 1/48 - 4
8-133879300-GC-TT c.55_56delinsTT p.A19F Missense 1/48 - 7
8-133879300-G-GTGCAGC c.55_56insTGCAGC p.A19delinsVQP MultiAAMissense 1/48 - 1
8-133879298-CGGCCAATATCTTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTCCA-C c.55_67+46del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879300-G-GAGCAGCAGC c.55_56insAGCAGCAGC p.A19delinsEQQP MultiAAMissense 1/48 - 1
8-133879300-GGCCAATA-G c.55_61del p.A19Sfs*23 Frameshift 1/48 - 1
8-133879300-GCC-ATG c.55_57delinsATG p.A19M Missense 1/48 - 5
8-133879300-G-GA c.55_56insA p.A19Dfs*17 Frameshift 1/48 - 1
8-133879300-GC-CA c.55_56delinsCA p.A19H Missense 1/48 - 6
8-133879300-GCC-CAA c.55_57delinsCAA p.A19Q Missense 1/48 - 4
8-133879300-GCC-TGG c.55_57delinsTGG p.A19W Missense 1/48 - 5
8-133879300-GC-CT c.55_56delinsCT p.A19L Missense 1/48 - 5
8-133879300-G-T c.55G>T p.A19S Missense 1/48 - 10
8-133879300-GCC-ACT c.55_57delinsACT p.A19T Missense 1/48 - 1
8-133879300-GCC-AAG c.55_57delinsAAG p.A19K Missense 1/48 - 4
8-133879300-G-C c.55G>C p.A19P Missense 1/48 - 9
8-133879300-GC-AA c.55_56delinsAA p.A19N Missense 1/48 - 5
8-133879298-C-CG c.55dup p.A19Gfs*17 Frameshift 1/48 - 3
8-133879300-GGC-G c.55_56del p.A19Qfs*16 Frameshift 1/48 - 1
8-133879300-G-GAA c.55_56insAA p.A19Efs*26 Frameshift 1/48 - 1
8-133879301-C-G c.56C>G p.A19G Missense 1/48 - 21
8-133879301-C-CTTTTTTT c.56_57insTTTTTTT p.N20Ffs*18 Frameshift 1/48 - 1
8-133879301-C-T c.56C>T p.A19V Missense 1/48 - 18
8-133879301-C-A c.56C>A p.A19D Missense 1/48 - 13
8-133879301-C-CTATGG c.56_57insTATGG p.N20Mfs*26 Frameshift 1/48 - 1
8-133879301-GCC-G c.56_57del p.A19Efs*16 Frameshift 1/48 - 1
8-133879301-CC-AG c.56_57delinsAG p.A19E Missense 1/48 - 4
8-133879301-GCCAATATCTTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTCCAGT-G c.56_67+47del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879301-C-CTG c.56_57insTG p.N20Afs*25 Frameshift 1/48 - 1
8-133879298-C-CGGCT c.56_57insTGGC p.N20Gfs*17 Frameshift 1/48 - 1
8-133879301-GCCAATA-G c.56_61del p.A19_I21delinsV MultiAAMissense 1/48 - 1
8-133879299-G-GGCT c.56_57insTGC p.A19dup InFrameInsertion 1/48 - 1
8-133879300-GC-G c.57del p.N20Ifs*24 Frameshift 1/48 - 9
8-133879302-C-A c.57C>A p.A19= Synonymous 1/48 - 22
8-133879302-C-G c.57C>G p.A19= Synonymous 1/48 - 25
8-133879302-C-T c.57C>T p.A19= Synonymous 1/48 - 25
8-133879302-C-CG c.57_58insG p.N20Efs*16 Frameshift 1/48 - 2
8-133879302-C-CCT c.57_58insCT p.N20Lfs*25 Frameshift 1/48 - 1
8-133879301-C-CCG c.57_58insGC p.N20Afs*25 Frameshift 1/48 - 1
8-133879301-C-CCGCCGCT c.57_58insGCCGCTC p.N20Afs*18 Frameshift 1/48 - 1
8-133879300-G-GC c.57dup p.N20Qfs*16 Frameshift 1/48 - 2
8-133879302-CCAA-C c.57_59del p.N20del InFrameDeletion 1/48 - 1
8-133879303-A-ACGG c.58_59insCGG p.N20delinsTD MultiAAMissense 1/48 - 1
8-133879301-C-CCAGCAGCAGCAG c.58_59insGCAGCAGCAGCA p.A19_N20insSSSS InFrameInsertion 1/48 - 1
8-133879303-A-ATGTACT c.58_59insTGTACT p.N20delinsMYY MultiAAMissense 1/48 - 1
8-133879303-A-C c.58A>C p.N20H Missense 1/48 - 4
8-133879303-A-G c.58A>G p.N20D Missense 1/48 - 14
8-133879303-A-T c.58A>T p.N20Y Missense 1/48 - 4
8-133879302-C-CAG c.58_59insGA p.N20Rfs*25 Frameshift 1/48 - 1
8-133879303-A-ATG c.58_59insTG p.N20Mfs*25 Frameshift 1/48 - 1
8-133879303-AA-GC c.58_59delinsGC p.N20A Missense 1/48 - 1
8-133879303-AAT-CAA c.58_60delinsCAA p.N20Q Missense 1/48 - 1
8-133879303-CAATATCTTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTCCAGTGT-C c.58_67+49del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 2
8-133879303-CAA-C c.58_59del p.N20Yfs*15 Frameshift 1/48 - 1
8-133879303-A-ACGCCGCTGC c.58_59insCGCCGCTGC p.N20delinsTPLH MultiAAMissense 1/48 - 1
8-133879303-A-ACGCCGCTGCTGC c.58_59insCGCCGCTGCTGC p.N20delinsTPLLH MultiAAMissense 1/48 - 1
8-133879302-CA-C c.59del p.N20Ifs*24 Frameshift 1/48 - 5
8-133879304-A-AG c.59_60insG p.N20Kfs*16 Frameshift 1/48 - 1
8-133879304-A-G c.59A>G p.N20S Missense 1/48 - 23
8-133879304-A-C c.59A>C p.N20T Missense 1/48 - 5
8-133879304-A-T c.59A>T p.N20I Missense 1/48 - 7
8-133879302-C-CA c.59dup p.N20Kfs*16 Frameshift 1/48 - 3
8-133879303-A-AACACTTGTCT c.59_60insCACTTGTCTA p.I21Tfs*18 Frameshift 1/48 - 1
8-133879303-A-AACTTCC c.59_60insCTTCCA p.N20_I21insFH InFrameInsertion 1/48 - 1
8-133879302-CAAT-C c.59_61del p.N20del InFrameDeletion 1/48 - 1
8-133879305-T-A c.60T>A p.N20K Missense 1/48 - 10
8-133879305-T-G c.60T>G p.N20K Missense 1/48 - 10
8-133879305-T-C c.60T>C p.N20= Synonymous 1/48 - 11
8-133879303-AATATCTTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTCCAGTGTC-A c.60_67+51del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 2
8-133879305-AT-A c.60del p.N20Kfs*24 Frameshift 1/48 - 1
8-133879305-T-TCCATGCAG c.60_61insCCATGCAG p.I21Pfs*26 Frameshift 1/48 - 1
8-133879305-T-TCCTCTCGGCTAC c.60_61insCCTCTCGGCTAC p.N20_I21insPLGY InFrameInsertion 1/48 - 1
8-133879306-A-G c.61A>G p.I21V Missense 1/48 - 10
8-133879306-A-T c.61A>T p.I21F Missense 1/48 - 5
8-133879306-ATC-TAA c.61_63delinsTAA p.I21* Nonsense 1/48 - 3
8-133879306-A-C c.61A>C p.I21L Missense 1/48 - 8
8-133879306-TA-T c.61del p.I21Sfs*23 Frameshift 1/48 - 3
8-133879302-C-CAATAAATATAAAATTATG c.61_62insAATATAAAATTATGAATA p.N20_I21insKYKIMN InFrameInsertion 1/48 - 1
8-133879305-T-TAA c.61_62insAA p.I21Kfs*24 Frameshift 1/48 - 1
8-133879306-TATC-T c.61_63del p.I21del InFrameDeletion 1/48 - 1
8-133879306-AT-GC c.61_62delinsGC p.I21A Missense 1/48 - 1
8-133879306-AT-GG c.61_62delinsGG p.I21G Missense 1/48 - 1
8-133879305-T-TAACAGCCTG c.61_62insACAGCCTGA p.N20_I21insNSL InFrameInsertion 1/48 - 1
8-133879305-T-TATA c.62_63insAAT p.I21dup InFrameInsertion 1/48 - 1
8-133879307-T-C c.62T>C p.I21T Missense 1/48 - 11
8-133879307-T-G c.62T>G p.I21S Missense 1/48 - 6
8-133879307-T-TATATCACCATCGATAGCAAGGCATTTCAATTGCTGGATTTATCTACGCAGCAATTGAAATGCCTTGC c.62_63insATATCACCATCGATAGCAAGGCATTTCAATTGCTGGATTTATCTACGCAGCAATTGAAATGCCTTGC p.F22Yfs*5 Frameshift 1/48 - 1
8-133879307-TC-GG c.62_63delinsGG p.I21R Missense 1/48 - 1
8-133879307-T-TTAAAGG c.62_63insTAAAGG p.I21_F22insKG InFrameInsertion 1/48 - 1
8-133879307-TC-AG c.62_63delinsAG p.I21K Missense 1/48 - 1
8-133879307-T-A c.62T>A p.I21N Missense 1/48 - 4
8-133879307-T-TA c.62_63insA p.F22Lfs*14 Frameshift 1/48 - 1
8-133879307-ATCTTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTCCAGTGTCAGC-A c.62_67+53del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879307-AT-A c.62del p.I21Tfs*23 Frameshift 1/48 - 2
8-133879306-A-ATT c.62_63insTT p.F22Sfs*23 Frameshift 1/48 - 1
8-133879308-TC-T c.63del p.F22Sfs*22 Frameshift 1/48 - 2
8-133879308-C-T c.63C>T p.I21= Synonymous 1/48 - 18
8-133879308-C-G c.63C>G p.I21M Missense 1/48 - 9
8-133879306-ATC-A c.63_64del p.F22Rfs*13 Frameshift 1/48 - 1
8-133879307-T-TCCCACG c.63_64insCCACGC p.I21_F22insPR InFrameInsertion 1/48 - 1
8-133879308-C-CCT c.63_64insCT p.F22Lfs*23 Frameshift 1/48 - 1
8-133879308-C-A c.63C>A p.I21= Synonymous 1/48 - 7
8-133879307-T-TC c.63dup p.F22Lfs*14 Frameshift 1/48 - 3
8-133879306-A-ATCCAGG c.63_64insCAGGTC p.I21_F22insQV InFrameInsertion 1/48 - 1
8-133879308-C-CCACATACACA c.63_64insCACATACACA p.F22Hfs*17 Frameshift 1/48 - 1
8-133879308-TCTTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTCCAGTGTCAGCC-T c.63_67+54del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879309-TTC-GAG c.64_66delinsGAG p.F22E Missense 1/48 - 5
8-133879307-T-TCTGCTGCTGCTG c.64_65insGCTGCTGCTGCT p.I21_F22insCCCC InFrameInsertion 1/48 - 1
8-133879309-T-C c.64T>C p.F22L Missense 1/48 - 8
8-133879309-CTTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTCCAGTGTCAGCCA-C c.64_67+55del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879306-ATCT-A c.64_66del p.F22del SpliceDonorDeletion 1/48 - 1
8-133879309-T-TCGGCAGCGGCGC c.64_65insCGGCAGCGGCGC p.F22delinsSAAAL MultiAAMissense 1/48 - 1
8-133879309-T-TGA c.64_65insGA p.F22* Nonsense 1/48 - 1
8-133879308-C-CTCGCTGT c.64_65insCGCTGTT p.F22Sfs*16 Frameshift 1/48 - 1
8-133879309-TT-GG c.64_65delinsGG p.F22G Missense 1/48 - 2
8-133879309-T-G c.64T>G p.F22V Missense 1/48 - 4
8-133879309-T-TCC c.64_65insCC p.F22Sfs*23 Frameshift 1/48 - 1
8-133879309-T-A c.64T>A p.F22I Missense 1/48 - 5
8-133879309-TT-GC c.64_65delinsGC p.F22A Missense 1/48 - 1
8-133879309-TT-GA c.64_65delinsGA p.F22D Missense 1/48 - 2
8-133879308-C-CTA c.64_65insAT p.F22Yfs*23 Frameshift 1/48 - 1
8-133879308-C-CT c.65dup p.E23Rfs*13 SpliceDonorInsertion 1/48 - 4
8-133879310-TC-AA c.65_66delinsAA p.F22* Nonsense 1/48 - 2
8-133879310-TTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTCCAGTGTCAGCCAG-T c.65_67+56del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 2
8-133879310-T-A c.65T>A p.F22Y Missense 1/48 - 8
8-133879310-T-C c.65T>C p.F22S Missense 1/48 - 8
8-133879310-T-G c.65T>G p.F22C Missense 1/48 - 6
8-133879308-CT-C c.65del p.F22Sfs*22 Frameshift 1/48 - 6
8-133879310-T-TTAA c.65_66insTAA p.F22_E23insN SpliceDonorInsertion 1/48 - 1
8-133879311-C-CAT c.66_67insAT p.E23Mfs*22 SpliceDonorInsertion 1/48 - 1
8-133879311-C-G c.66C>G p.F22L Missense 1/48 - 6
8-133879311-C-T c.66C>T p.F22= Synonymous 1/48 - 16
8-133879311-C-CTT c.66_67insTT p.E23Lfs*22 SpliceDonorInsertion 1/48 - 1
8-133879311-TC-T c.66del p.F22Lfs*22 Frameshift 1/48 - 3
8-133879311-C-A c.66C>A p.F22L Missense 1/48 - 8
8-133879311-C-CA c.66_67insA p.E23Rfs*13 SpliceDonorInsertion 1/48 - 1
8-133879311-C-CCTGCTG c.66_67insCTGCTG p.F22_E23insLL SpliceDonorInsertion 1/48 - 1
8-133879311-C-CT c.66_67insT p.E23* SpliceDonorInsertion 1/48 - 1
8-133879310-T-TC c.66dup p.E23Rfs*13 SpliceDonorInsertion 1/48 - 3
8-133879310-T-TCC c.66_67insCC p.E23Pfs*22 SpliceDonorInsertion 1/48 - 1
8-133879312-G-A c.67G>A p.E23K Missense 1/48 - 60
8-133879312-G-GA c.67_67+1insA p.Y24Vfs*12 SpliceDonorInsertion - - 1
8-133879312-G-C c.67G>C p.E23Q Missense 1/48 - 6
8-133879312-G-T c.67G>T p.E23* Nonsense 1/48 - 13
8-133879312-G-GAGGA c.67_67+1insAGGA p.Y24Efs*13 SpliceDonorInsertion - - 1
8-133879310-T-TCGC c.67_67+1insCCG p.F22_E23insA SpliceDonorInsertion - - 1
8-133879311-CG-C c.67+1del - Frameshift - 1/47 2
8-133879313-G-A c.67+1G>A - IntronicSNV - 1/47 3
8-133879313-G-C c.67+1G>C - IntronicSNV - 1/47 1
8-133879314-T-C c.67+2T>C - IntronicSNV - 1/47 2
8-133879314-GT-G c.67+2del - IntronicDeletion - 1/47 1
8-133879314-T-A c.67+2T>A - IntronicSNV - 1/47 1
8-133879313-GTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTCCAGTGTCAGCCAGGCTC-G c.67+3_67+61del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion - 1/47 1
8-133879315-A-G c.67+3A>G - IntronicSNV - 1/47 1
8-133879319-T-C c.67+7T>C - IntronicSNV - 1/47 1
8-133879320-C-T c.67+8C>T - IntronicSNV - 1/47 1
8-133879321-T-C c.67+9T>C - IntronicSNV - 1/47 1
8-133879326-C-T c.67+14C>T - IntronicSNV - 1/47 1
8-133879328-A-T c.67+16A>T - IntronicSNV - 1/47 1
8-133879330-GGA-G c.67+20_67+21del - IntronicDeletion - 1/47 2
8-133879332-A-G c.67+20A>G - IntronicSNV - 1/47 1
8-133879333-AGC-A c.67+21_67+22del - IntronicDeletion - 1/47 1
8-133879334-GCCA-G c.67+22_67+24del - IntronicDeletion - 1/47 1
8-133879336-AGGC-A c.67+27_67+29del - IntronicDeletion - 1/47 1
8-133879350-G-A c.67+38G>A - IntronicSNV - 1/47 1
8-133879352-G-A c.67+40G>A - IntronicSNV - 1/47 1
8-133879358-G-A c.67+46G>A - IntronicSNV - 1/47 1
8-133879361-T-C c.67+49T>C - IntronicSNV - 1/47 1
8-133879370-GCTC-G c.67+58_67+60del - IntronicDeletion - 1/47 1
8-133879369-G-GC c.67+58dup - IntronicInsertion - 1/47 1
8-133879375-C-G c.67+63C>G - IntronicSNV - 1/47 1
8-133879379-G-A c.67+67G>A - IntronicSNV - 1/47 1
8-133879396-C-T c.67+84C>T - IntronicSNV - 1/47 2
8-133879403-AAT-A c.67+91_67+92del - IntronicDeletion - 1/47 1
8-133879411-T-A c.67+99T>A - IntronicSNV - 1/47 1
8-133879415-C-T c.67+103C>T - IntronicSNV - 1/47 1
8-133879420-TTCC-T c.67+108_67+110del - IntronicDeletion - 1/47 1
8-133879432-G-A c.67+120G>A - IntronicSNV - 1/47 1
8-133879445-T-G c.67+133T>G - IntronicSNV - 1/47 1
8-133879440-CTT-C c.67+138_67+139del - IntronicDeletion - 1/47 1
8-133879440-CT-C c.67+139del - IntronicDeletion - 1/47 1
8-133879452-C-T c.67+140C>T - IntronicSNV - 1/47 2
8-133879452-TC-T c.67+140del - IntronicDeletion - 1/47 2
8-133879452-CAGATGA-C c.67+144_67+149del - IntronicDeletion - 1/47 1
8-133879462-G-A c.67+150G>A - IntronicSNV - 1/47 1
8-133879466-AGATT-A c.67+154_67+157del - IntronicDeletion - 1/47 1
8-133879470-TAG-T c.67+163_67+164del - IntronicDeletion - 1/47 1
8-133879476-AG-A c.67+164del - IntronicDeletion - 1/47 1
8-133879486-A-G c.67+174A>G - IntronicSNV - 1/47 1
8-133879486-ATTAC-A c.67+177_67+180del - IntronicDeletion - 1/47 1
8-133879515-A-G c.67+203A>G - IntronicSNV - 1/47 1
8-133879527-TG-T c.67+218del - IntronicDeletion - 1/47 1
8-133879599-A-G c.67+287A>G - IntronicSNV - 1/47 1
8-133879604-ACC-A c.67+292_67+293del - IntronicDeletion - 1/47 1
8-133879661-T-G c.67+349T>G - IntronicSNV - 1/47 1
8-133879674-A-G c.67+362A>G - IntronicSNV - 1/47 1
8-133879723-C-T c.67+411C>T - IntronicSNV - 1/47 1
8-133879737-C-G c.67+425C>G - IntronicSNV - 1/47 1
8-133879799-A-T c.67+487A>T - IntronicSNV - 1/47 1
8-133879818-TCA-T c.67+506_67+507del - IntronicDeletion - 1/47 1
8-133879833-A-AT c.67+524dup - IntronicInsertion - 1/47 1
8-133879853-G-A c.68-507G>A - IntronicSNV - 1/47 1
8-133879855-G-A c.68-505G>A - IntronicSNV - 1/47 1
8-133879873-G-C c.68-487G>C - IntronicSNV - 1/47 1
8-133879895-A-G c.68-465A>G - IntronicSNV - 1/47 1
8-133879977-CTT-C c.68-383_68-382del - IntronicDeletion - 1/47 1
8-133879998-CAAAT-C c.68-360_68-357del - IntronicDeletion - 1/47 1
8-133880001-A-C c.68-359A>C - IntronicSNV - 1/47 1
8-133880004-G-GC c.68-354dup - IntronicInsertion - 1/47 1
8-133880105-ACGAC-A c.68-255_68-252del - IntronicDeletion - 1/47 1
8-133880109-T-C c.68-251T>C - IntronicSNV - 1/47 1
8-133880176-T-C c.68-184T>C - IntronicSNV - 1/47 1
8-133880199-G-T c.68-161G>T - IntronicSNV - 1/47 1
8-133880212-G-A c.68-148G>A - IntronicSNV - 1/47 4
8-133880218-G-GT c.68-141dup - IntronicInsertion - 1/47 1
8-133880228-GC-G c.68-130del - IntronicDeletion - 1/47 1
8-133880243-A-G c.68-117A>G - IntronicSNV - 1/47 1
8-133880288-T-C c.68-72T>C - IntronicSNV - 1/47 1
8-133880334-T-A c.68-26T>A - IntronicSNV - 1/47 8
8-133880334-T-C c.68-26T>C - IntronicSNV - 1/47 8
8-133880360-A-AC c.68_69insC p.E23Dfs*13 SpliceAcceptorInsertion 2/48 - 3
8-133880359-G-GA c.68dup p.Y24Vfs*12 SpliceAcceptorInsertion 2/48 - 1
8-133880360-A-T c.68A>T p.E23V Missense 2/48 - 6
8-133880360-A-G c.68A>G p.E23G Missense 2/48 - 14
8-133880360-GA-G c.68del p.E23Gfs*21 Frameshift 2/48 - 3
8-133880357-TAG-T c.68_69del p.E23Vfs*12 SpliceAcceptorDeletion 2/48 - 4
8-133880360-A-C c.68A>C p.E23A Missense 2/48 - 6
8-133880360-A-ATTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTGGTTGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCCCGCG c.68_69insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTGGTTGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCCCGCG p.E23Dfs*16 SpliceAcceptorInsertion 2/48 - 1
8-133880360-A-ATTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTAAGCGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCCCGCG c.68_69insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTAAGCGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCCCGCG p.E23Dfs*13 SpliceAcceptorInsertion 2/48 - 1
8-133880360-A-ATTTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATACAGTGGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCCCGCG c.68_69insTTTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATACAGTGGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCCCGCG p.E23delinsDFFFFKQKTAYEIQWCDWSSDVCSSDLPR SpliceAcceptorInsertion 2/48 - 1
8-133880359-G-GAT c.68_69insTA p.E23Dfs*22 SpliceAcceptorInsertion 2/48 - 1
8-133880360-A-ACT c.68_69insCT p.E23Dfs*22 SpliceAcceptorInsertion 2/48 - 1
8-133880360-A-ATCTC c.68_69insTCTC p.E23Dfs*14 SpliceAcceptorInsertion 2/48 - 1
8-133880360-A-ATCTCTC c.68_69insTCTCTC p.E23delinsDLS SpliceAcceptorInsertion 2/48 - 1
8-133880360-A-ATC c.68_69insTC p.E23Dfs*22 SpliceAcceptorInsertion 2/48 - 1
8-133880360-GAGTACCAGGTGGATGCCCAGCCCCTTCGTCCCTGTGAGCTGCAGAGGGAAACGGCCTTT-G c.68_126del p.E23Afs*37 SpliceAcceptorDeletion 2/48 - 1
8-133880358-A-AGAT c.68_69insTGA p.F22_E23insD SpliceAcceptorInsertion 2/48 - 1
8-133880360-AG-GT c.68_69delinsGT p.E23G SpliceAcceptorBlockSubstitution 2/48 - 1
8-133880359-GAGT-G c.69_71del p.E23_Y24delinsD SpliceAcceptorDeletion 2/48 - 2
8-133880361-G-T c.69G>T p.E23D Missense 2/48 - 7
8-133880361-G-A c.69G>A p.E23= Synonymous 2/48 - 11
8-133880361-G-C c.69G>C p.E23D Missense 2/48 - 10
8-133880361-AG-A c.69del p.E23Dfs*21 Frameshift 2/48 - 3
8-133880361-G-GC c.69_70insC p.Y24Lfs*12 SpliceAcceptorInsertion 2/48 - 1
8-133880361-G-GA c.69_70insA p.Y24Ifs*12 SpliceAcceptorInsertion 2/48 - 3
8-133880360-A-AG c.69dup p.Y24Vfs*12 SpliceAcceptorInsertion 2/48 - 4
8-133880361-AGTAC-A c.69_72del p.E23Dfs*20 SpliceAcceptorDeletion 2/48 - 1
8-133880358-AGAGTACCAGGTG-A c.69_80del p.E23_V26del SpliceAcceptorDeletion 2/48 - 1
8-133880362-GT-G c.70del p.Y24Tfs*20 Frameshift 2/48 - 3
8-133880362-T-TCCTCCG c.70_71insCCTCCG p.Y24delinsSSD MultiAAMissense 2/48 - 1
8-133880362-T-C c.70T>C p.Y24H Missense 2/48 - 13
8-133880362-T-A c.70T>A p.Y24N Missense 2/48 - 9
8-133880362-T-G c.70T>G p.Y24D Missense 2/48 - 6
8-133880362-T-TC c.70_71insC p.Y24Sfs*12 Frameshift 2/48 - 1
8-133880360-A-AGTGCTCGAGCGAGCCC c.70_71insGCTCGAGCGAGCCCGT p.Y24Cfs*17 SpliceAcceptorInsertion 2/48 - 1
8-133880362-GTA-G c.70_71del p.Y24Pfs*11 Frameshift 2/48 - 1
8-133880362-GTAC-G c.70_72del p.Y24del InFrameDeletion 2/48 - 1
8-133880362-T-TCCA c.70_71insCCA p.Y24delinsSN MultiAAMissense 2/48 - 1
8-133880362-TA-GC c.70_71delinsGC p.Y24A Missense 2/48 - 2
8-133880362-TA-GG c.70_71delinsGG p.Y24G Missense 2/48 - 1
8-133880362-T-TA c.71dup p.Y24* Nonsense 2/48 - 3
8-133880363-A-G c.71A>G p.Y24C Missense 2/48 - 11
8-133880363-TACCA-T c.71_74del p.Y24Wfs*19 Frameshift 2/48 - 1
8-133880363-A-T c.71A>T p.Y24F Missense 2/48 - 4
8-133880363-TA-T c.71del p.Y24Sfs*20 Frameshift 2/48 - 3
8-133880363-TACCAGG-T c.71_76del p.Y24_V26delinsL MultiAAMissense 2/48 - 1
8-133880363-A-AGCCCCCACCATGAGCGCTGCT c.71_72insGCCCCCACCATGAGCGCTGCT p.Y24delins* Nonsense 2/48 - 1
8-133880363-A-AGGGTGG c.71_72insGGGTGG p.Y24delins* Nonsense 2/48 - 1
8-133880363-A-C c.71A>C p.Y24S Missense 2/48 - 2
8-133880364-C-T c.72C>T p.Y24= Synonymous 2/48 - 14
8-133880364-C-G c.72C>G p.Y24* Nonsense 2/48 - 4
8-133880362-TACCAGGTGGATGCCC-T c.72_86del p.Y24_Q29delins* MultiAAMissense 2/48 - 1
8-133880364-C-A c.72C>A p.Y24* Nonsense 2/48 - 5
8-133880363-A-ACAGTGG c.72_73insAGTGGC p.Y24_Q25insSG InFrameInsertion 2/48 - 1
8-133880364-CC-TT c.72_73delinsTT p.Q25* Missense 2/48 - 1
8-133880363-AC-A c.73del p.Q25Rfs*19 Frameshift 2/48 - 6
8-133880365-C-T c.73C>T p.Q25* Nonsense 2/48 - 16
8-133880365-CCAGGTG-C c.73_78del p.Q25_V26del InFrameDeletion 2/48 - 1
8-133880364-C-CCCGCCTCCGCCT c.73_74insCGCCTCCGCCTC p.Y24_Q25insPPPP InFrameInsertion 2/48 - 1
8-133880364-C-CCCT c.73_74insCTC p.Y24_Q25insP InFrameInsertion 2/48 - 1
8-133880364-C-CCCG c.73_74insCGC p.Y24_Q25insP InFrameInsertion 2/48 - 1
8-133880365-CCAGGTGGAT-C c.73_81del p.Q25_D27del InFrameDeletion 2/48 - 1
8-133880365-C-A c.73C>A p.Q25K Missense 2/48 - 7
8-133880365-CA-TC c.73_74delinsTC p.Q25S Missense 2/48 - 1
8-133880365-C-G c.73C>G p.Q25E Missense 2/48 - 4
8-133880365-CA-GC c.73_74delinsGC p.Q25A Missense 2/48 - 3
8-133880364-C-CCT c.73_74insTC p.Q25Lfs*20 Frameshift 2/48 - 1
8-133880363-A-AC c.73dup p.Q25Pfs*11 Frameshift 2/48 - 3
8-133880365-C-CTTGGCG c.73_74insTTGGCG p.Q25delinsLGE MultiAAMissense 2/48 - 1
8-133880364-C-CCGACA c.73_74insGACAC p.Q25Rfs*21 Frameshift 2/48 - 1
8-133880365-C-CATAAAAAA c.74_75insTAAAAAAA p.Q25Hfs*22 Frameshift 2/48 - 1
8-133880366-A-ACT c.74_75insCT p.Q25Hfs*20 Frameshift 2/48 - 1
8-133880365-C-CA c.74dup p.V26Gfs*10 Frameshift 2/48 - 1
8-133880366-A-G c.74A>G p.Q25R Missense 2/48 - 9
8-133880366-A-C c.74A>C p.Q25P Missense 2/48 - 6
8-133880365-C-CATAGAGAG c.74_75insTAGAGAGA p.Q25Hfs*22 Frameshift 2/48 - 1
8-133880366-CA-C c.74del p.Q25Rfs*19 Frameshift 2/48 - 3
8-133880366-CAG-C c.74_75del p.Q25Rfs*10 Frameshift 2/48 - 1
8-133880366-CAGG-C c.74_76del p.Q25_V26delinsL MultiAAMissense 2/48 - 1
8-133880366-A-ATG c.74_75insTG p.Q25Hfs*20 Frameshift 2/48 - 1
8-133880366-A-T c.74A>T p.Q25L Missense 2/48 - 2
8-133880363-ACCAGGTGGATG-A c.74_84del p.Q25Pfs*7 Frameshift 2/48 - 1
8-133880367-G-A c.75G>A p.Q25= Synonymous 2/48 - 15
8-133880367-G-GT c.75_76insT p.V26Cfs*10 Frameshift 2/48 - 1
8-133880367-G-GA c.75_76insA p.V26Sfs*10 Frameshift 2/48 - 1
8-133880367-G-GCA c.75_76insCA p.V26Qfs*19 Frameshift 2/48 - 1
8-133880367-G-T c.75G>T p.Q25H Missense 2/48 - 8
8-133880367-G-C c.75G>C p.Q25H Missense 2/48 - 8
8-133880367-G-GCCCACT c.75_76insCCCACT p.Q25_V26insPT InFrameInsertion 2/48 - 1
8-133880367-G-GTGGATGTATT c.75_76insTGGATGTATT p.V26Wfs*13 Frameshift 2/48 - 1
8-133880366-AG-A c.76del p.V26Wfs*18 Frameshift 2/48 - 4
8-133880367-G-GGACGTCGTCGTCGTC c.76_77insACGTCGTCGTCGTCG p.Q25_V26insDVVVV InFrameInsertion 2/48 - 1
8-133880367-G-GGCCGCC c.76_77insCCGCCG p.Q25_V26insAA InFrameInsertion 2/48 - 1
8-133880368-G-C c.76G>C p.V26L Missense 2/48 - 6
8-133880368-G-A c.76G>A p.V26M Missense 2/48 - 17
8-133880368-GTG-ATC c.76_78delinsATC p.V26I Missense 2/48 - 12
8-133880368-G-T c.76G>T p.V26L Missense 2/48 - 7
8-133880368-GTG-TTT c.76_78delinsTTT p.V26F Missense 2/48 - 2
8-133880368-GT-AC c.76_77inv p.V26T Missense 2/48 - 1
8-133880367-G-GGAGAGCGGTAAGTGCAA c.76_77insAGAGCGGTAAGTGCAAG p.V26Efs*24 Frameshift 2/48 - 1
8-133880366-A-AGGGCGG c.76_77insGCGGGG p.Q25_V26insGG InFrameInsertion 2/48 - 1
8-133880368-GT-TA c.76_77delinsTA p.V26* Nonsense 2/48 - 1
8-133880368-GT-AA c.76_77delinsAA p.V26K Missense 2/48 - 1
8-133880366-A-AG c.76dup p.V26Gfs*10 Frameshift 2/48 - 1
8-133880368-G-GTTTC c.77_78insTTCT p.D27Sfs*10 Frameshift 2/48 - 1
8-133880369-GT-G c.77del p.V26Gfs*18 Frameshift 2/48 - 4
8-133880369-GTGGATGCCCAGC-G c.77_88del p.V26_P30delinsA MultiAAMissense 2/48 - 1
8-133880368-G-GTTGGCGGT c.77_78insTGGCGGTT p.D27Gfs*20 Frameshift 2/48 - 1
8-133880369-T-C c.77T>C p.V26A Missense 2/48 - 12
8-133880369-T-G c.77T>G p.V26G Missense 2/48 - 5
8-133880369-T-A c.77T>A p.V26E Missense 2/48 - 3
8-133880369-T-TTGGCGGGGG c.77_78insTGGCGGGGG p.V26_D27insGGG InFrameInsertion 2/48 - 1
8-133880369-T-TAAGCCC c.77_78insAAGCCC p.V26_D27insSP InFrameInsertion 2/48 - 1
8-133880369-T-TTTCTTC c.77_78insTTCTTC p.V26_D27insSS InFrameInsertion 2/48 - 1
8-133880369-T-TTTCCTCTTCCTC c.77_78insTTCCTCTTCCTC p.V26_D27insSSSS InFrameInsertion 2/48 - 1
8-133880369-TG-AC c.77_78delinsAC p.V26D Missense 2/48 - 2
8-133880367-G-GGTCGGT c.77_78insCGGTGT p.V26_D27insGV InFrameInsertion 2/48 - 1
8-133880369-T-TTGGTGG c.77_78insTGGTGG p.V26_D27insGG InFrameInsertion 2/48 - 1
8-133880367-GGT-G c.77_78del p.V26Gfs*9 Frameshift 2/48 - 1
8-133880369-T-TTCC c.77_78insTCC p.V26_D27insP InFrameInsertion 2/48 - 1
8-133880369-T-TAGGAAAGCACCGGGCACGGCTCGCCCCTCCCGCAGCTGCTCCACGGGGGTCCC c.77_78insAGGAAAGCACCGGGCACGGCTCGCCCCTCCCGCAGCTGCTCCACGGGGGTCCC p.D27Gfs*35 Frameshift 2/48 - 1
8-133880368-G-GT c.77dup p.D27Gfs*9 Frameshift 2/48 - 1
8-133880370-G-GT c.78_79insT p.D27* Nonsense 2/48 - 6
8-133880370-G-A c.78G>A p.V26= Synonymous 2/48 - 17
8-133880370-TGGATGC-T c.78_83del p.D27_A28del InFrameDeletion 2/48 - 1
8-133880370-G-C c.78G>C p.V26= Synonymous 2/48 - 10
8-133880370-G-T c.78G>T p.V26= Synonymous 2/48 - 10
8-133880370-TGG-T c.78_79del p.D27Cfs*8 Frameshift 2/48 - 2
8-133880371-G-T c.79G>T p.D27Y Missense 2/48 - 12
8-133880371-G-GGGCCGCGGCGGCGGC c.79_80insGGCCGCGGCGGCGGC p.D27delinsGPRRRH MultiAAMissense 2/48 - 1
8-133880371-G-A c.79G>A p.D27N Missense 2/48 - 23
8-133880371-G-GCGCCGCCGC c.79_80insCGCCGCCGC p.D27delinsAPPH MultiAAMissense 2/48 - 1
8-133880371-G-GCCT c.79_80insCCT p.D27delinsAY MultiAAMissense 2/48 - 1
8-133880371-G-C c.79G>C p.D27H Missense 2/48 - 3
8-133880368-GTGGA-G c.79_82del p.D27Pfs*16 Frameshift 2/48 - 1
8-133880369-TG-T c.79del p.D27Mfs*17 Frameshift 2/48 - 3
8-133880370-G-GGGC c.79_80insGCG p.V26_D27insG InFrameInsertion 2/48 - 1
8-133880371-GA-TG c.79_80delinsTG p.D27C Missense 2/48 - 1
8-133880370-G-GGGCAGC c.79_80insGCAGCG p.V26_D27insGS InFrameInsertion 2/48 - 2
8-133880371-GAT-AAG c.79_81delinsAAG p.D27K Missense 2/48 - 1
8-133880369-T-TG c.79dup p.D27Gfs*9 Frameshift 2/48 - 1
8-133880368-GTGGATGCCCAGCCCCTTCGTCCCTGTGAGC-G c.79_108del p.D27_L36del InFrameDeletion 2/48 - 1
8-133880371-G-GAAA c.80_81insAAA p.D27delinsEN MultiAAMissense 2/48 - 1
8-133880372-A-G c.80A>G p.D27G Missense 2/48 - 10
8-133880372-A-AG c.80_81insG p.D27Efs*9 Frameshift 2/48 - 1
8-133880372-A-ACGGCGGCGGCGG c.80_81insCGGCGGCGGCGG p.D27_A28insGGGG InFrameInsertion 2/48 - 1
8-133880372-A-T c.80A>T p.D27V Missense 2/48 - 7
8-133880372-A-C c.80A>C p.D27A Missense 2/48 - 5
8-133880372-GA-G c.80del p.D27Vfs*17 Frameshift 2/48 - 4
8-133880372-A-ACTGTGGCTATGGCTGTGGCTATGGCTGTGGCTATGGCTGTGGCTGTGGCTATGGCTGTGGCTATGGCTGTGGCTATGG c.80_81insCTGTGGCTATGGCTGTGGCTATGGCTGTGGCTATGGCTGTGGCTGTGGCTATGGCTGTGGCTATGGCTGTGGCTATGG p.D27_A28insCGYGCGYGCGYGCGCGYGCGYGCGYG InFrameInsertion 2/48 - 1
8-133880372-ATGCCCAGCCCCT-GGC c.80_92delinsGGC p.D27Gfs*14 Frameshift 2/48 - 1
8-133880371-G-GA c.80dup p.D27Efs*9 Frameshift 2/48 - 1
8-133880373-T-G c.81T>G p.D27E Missense 2/48 - 12
8-133880373-T-A c.81T>A p.D27E Missense 2/48 - 11
8-133880373-T-C c.81T>C p.D27= Synonymous 2/48 - 15
8-133880372-A-ATCTATAT c.81_82insCTATATT p.A28Lfs*10 Frameshift 2/48 - 1
8-133880373-T-TA c.81_82insA p.A28Sfs*8 Frameshift 2/48 - 1
8-133880373-T-TAGCTCTG c.81_82insAGCTCTG p.A28Sfs*10 Frameshift 2/48 - 1
8-133880373-T-TTGTGTGTG c.81_82insTGTGTGTG p.A28Cfs*19 Frameshift 2/48 - 1
8-133880371-GATGCCCAGCCCCTTCGTCCCTGTGAGCTGCAGAGGGAAACGGCCTTTCTGAAGC-G c.81_134del p.D27_Q45delinsE MultiAAMissense 2/48 - 1
8-133880372-A-AT c.81dup p.A28Cfs*8 Frameshift 2/48 - 1
8-133880373-T-TAG c.81_82insAG p.A28Rfs*17 Frameshift 2/48 - 1
8-133880373-AT-A c.81del p.D27Efs*17 Frameshift 2/48 - 2
8-133880374-GC-CT c.82_83delinsCT p.A28L Missense 2/48 - 7
8-133880374-GCC-CAA c.82_84delinsCAA p.A28Q Missense 2/48 - 3
8-133880374-GCC-AAG c.82_84delinsAAG p.A28K Missense 2/48 - 2
8-133880374-G-A c.82G>A p.A28T Missense 2/48 - 22
8-133880373-T-TG c.82dup p.A28Gfs*8 Frameshift 2/48 - 2
8-133880374-GC-CG c.82_83delinsCG p.A28R Missense 2/48 - 3
8-133880374-G-T c.82G>T p.A28S Missense 2/48 - 18
8-133880374-GCC-TAA c.82_84delinsTAA p.A28* Nonsense 2/48 - 5
8-133880373-T-TGTG c.82_83insTGG p.D27_A28insV InFrameInsertion 2/48 - 1
8-133880374-GC-CA c.82_83delinsCA p.A28H Missense 2/48 - 2
8-133880374-GCC-ATG c.82_84delinsATG p.A28M Missense 2/48 - 3
8-133880374-G-GTA c.82_83insTA p.A28Vfs*17 Frameshift 2/48 - 1
8-133880374-TG-T c.82del p.A28Pfs*16 Frameshift 2/48 - 2
8-133880374-GC-TT c.82_83delinsTT p.A28F Missense 2/48 - 4
8-133880374-G-C c.82G>C p.A28P Missense 2/48 - 5
8-133880374-GC-TG c.82_83delinsTG p.A28C Missense 2/48 - 2
8-133880374-G-GGCAGCAACAGCAGCAGCAGCA c.82_83insGCAGCAACAGCAGCAGCAGCA p.A28delinsGSNSSSST MultiAAMissense 2/48 - 1
8-133880371-G-GATGTGA c.82_83insTGAATG p.D27_A28insVN InFrameInsertion 2/48 - 1
8-133880374-TGCC-T c.82_84del p.A28del InFrameDeletion 2/48 - 1
8-133880374-GCC-TGG c.82_84delinsTGG p.A28W Missense 2/48 - 1
8-133880375-C-T c.83C>T p.A28V Missense 2/48 - 24
8-133880375-C-CTT c.83_84insTT p.Q29Sfs*16 Frameshift 2/48 - 1
8-133880375-CC-AG c.83_84delinsAG p.A28E Missense 2/48 - 8
8-133880375-C-A c.83C>A p.A28D Missense 2/48 - 8
8-133880375-C-G c.83C>G p.A28G Missense 2/48 - 8
8-133880375-C-CGCTGATTGCT c.83_84insGCTGATTGCT p.Q29Lfs*10 Frameshift 2/48 - 1
8-133880374-G-GCACAAAGATA c.83_84insACAAAGATAC p.P30Rfs*9 Frameshift 2/48 - 1
8-133880375-C-CTTTTAAGGATA c.83_84insTTTTAAGGATA p.Q29Ffs*19 Frameshift 2/48 - 1
8-133880376-C-A c.84C>A p.A28= Synonymous 2/48 - 16
8-133880376-C-G c.84C>G p.A28= Synonymous 2/48 - 11
8-133880376-C-T c.84C>T p.A28= Synonymous 2/48 - 16
8-133880375-C-CCGGCGG c.84_85insGGCGGC p.A28_Q29insGG InFrameInsertion 2/48 - 1
8-133880376-C-CA c.84_85insA p.Q29Tfs*7 Frameshift 2/48 - 1
8-133880374-GCC-G c.84_85del p.Q29Afs*6 Frameshift 2/48 - 1
8-133880374-G-GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.85_86insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC p.A28_Q29insPPPPPPPPPPPPPPPP InFrameInsertion 2/48 - 1
8-133880374-G-GC c.85dup p.Q29Pfs*7 Frameshift 2/48 - 5
8-133880377-C-A c.85C>A p.Q29K Missense 2/48 - 10
8-133880374-GC-G c.85del p.Q29Sfs*15 Frameshift 2/48 - 4
8-133880377-C-T c.85C>T p.Q29* Nonsense 2/48 - 25
8-133880377-CAG-GAC c.85_87delinsGAC p.Q29D Missense 2/48 - 1
8-133880377-C-G c.85C>G p.Q29E Missense 2/48 - 9
8-133880377-CAG-ATC c.85_87delinsATC p.Q29I Missense 2/48 - 2
8-133880376-C-CCCG c.85_86insCGC p.A28_Q29insP InFrameInsertion 2/48 - 1
8-133880377-CAGCCCCT-GG c.85_92delinsGG p.Q29_L31delinsG MultiAAMissense 2/48 - 1
8-133880377-C-CCTTAGTG c.85_86insCTTAGTG p.Q29Pfs*2 Frameshift 2/48 - 1
8-133880377-CA-GC c.85_86delinsGC p.Q29A Missense 2/48 - 2
8-133880377-CA-TC c.85_86delinsTC p.Q29S Missense 2/48 - 1
8-133880377-CCA-C c.85_86del p.Q29Afs*6 Frameshift 2/48 - 1
8-133880378-A-ATTCCTTCC c.86_87insTTCCTTCC p.Q29Hfs*18 Frameshift 2/48 - 1
8-133880378-A-ATC c.86_87insTC p.Q29Hfs*16 Frameshift 2/48 - 1
8-133880376-CCAG-C c.86_88del p.Q29del InFrameDeletion 2/48 - 4
8-133880378-A-G c.86A>G p.Q29R Missense 2/48 - 15
8-133880378-A-T c.86A>T p.Q29L Missense 2/48 - 8
8-133880378-A-AC c.86_87insC p.Q29Hfs*7 Frameshift 2/48 - 2
8-133880378-A-C c.86A>C p.Q29P Missense 2/48 - 4
8-133880376-CCAGCCCCTT-C c.86_94del p.Q29_L31del InFrameDeletion 2/48 - 1
8-133880378-CA-C c.86del p.Q29Rfs*15 UnclassifiedDeletion 2/48 - 2
8-133880377-C-CA c.86dup p.P30Afs*6 Frameshift 2/48 - 1
8-133880379-G-GTTTTT c.87_88insTTTTT p.P30Ffs*16 Frameshift 2/48 - 1
8-133880379-G-C c.87G>C p.Q29H Missense 2/48 - 9
8-133880379-G-A c.87G>A p.Q29= Synonymous 2/48 - 14
8-133880379-G-T c.87G>T p.Q29H Missense 2/48 - 12
8-133880379-AG-A c.87del p.Q29Hfs*15 Frameshift 2/48 - 1
8-133880379-AGCC-A c.87_89del p.Q29_P30delinsH MultiAAMissense 2/48 - 2
8-133880378-A-AG c.87dup p.P30Afs*6 Frameshift 2/48 - 1
8-133880379-G-GTC c.87_88insTC p.P30Sfs*15 Frameshift 2/48 - 1
8-133880380-C-G c.88C>G p.P30A Missense 2/48 - 7
8-133880380-C-T c.88C>T p.P30S Missense 2/48 - 22
8-133880380-C-A c.88C>A p.P30T Missense 2/48 - 11
8-133880380-CC-TT c.88_89delinsTT p.P30F Missense 2/48 - 1
8-133880380-C-CT c.88_89insT p.P30Lfs*6 Frameshift 2/48 - 2
8-133880380-CCC-TAA c.88_90delinsTAA p.P30* Nonsense 2/48 - 3
8-133880380-CCC-GAG c.88_90delinsGAG p.P30E Missense 2/48 - 2
8-133880380-CCC-AAG c.88_90delinsAAG p.P30K Missense 2/48 - 1
8-133880380-C-CG c.88_89insG p.P30Rfs*6 Frameshift 2/48 - 1
8-133880380-C-CA c.88_89insA p.P30Hfs*6 Frameshift 2/48 - 1
8-133880381-C-T c.89C>T p.P30L Missense 2/48 - 20
8-133880379-GCCC-G c.89_91del p.P30del InFrameDeletion 2/48 - 2
8-133880378-A-AGCCTCC c.89_90insTCCGCC p.P30_L31insPP InFrameInsertion 2/48 - 1
8-133880381-C-CT c.89_90insT p.L31Pfs*5 Frameshift 2/48 - 1
8-133880381-C-A c.89C>A p.P30H Missense 2/48 - 14
8-133880381-CC-AA c.89_90delinsAA p.P30Q Missense 2/48 - 4
8-133880381-C-CGCCATTTCACACAGAGA c.89_90insGCCATTTCACACAGAGA p.L31Pfs*19 Frameshift 2/48 - 1
8-133880381-C-G c.89C>G p.P30R Missense 2/48 - 6
8-133880381-C-CG c.89_90insG p.L31Pfs*5 Frameshift 2/48 - 1
8-133880381-CC-A c.89_90delinsA p.P30Hfs*14 Frameshift 2/48 - 1
8-133880380-C-CCT c.89_90insTC p.L31Pfs*14 Frameshift 2/48 - 1
8-133880382-C-T c.90C>T p.P30= Synonymous 2/48 - 19
8-133880382-C-G c.90C>G p.P30= Synonymous 2/48 - 11
8-133880382-C-A c.90C>A p.P30= Synonymous 2/48 - 7
8-133880382-C-CGTTCT c.90_91insGTTCT p.L31Vfs*15 Frameshift 2/48 - 1
8-133880382-C-CG c.90_91insG p.L31Afs*5 Frameshift 2/48 - 2
8-133880379-GCC-G c.90_91del p.L31Sfs*4 Frameshift 2/48 - 2
8-133880382-C-CT c.90_91insT p.L31Sfs*5 Frameshift 2/48 - 1
8-133880382-C-CTATCAAACTTA c.90_91insTATCAAACTTA p.L31Yfs*17 Frameshift 2/48 - 1
8-133880383-C-T c.91C>T p.L31F Missense 2/48 - 22
8-133880383-C-CCCTCTCCCCGTTCTCG c.91_92insCCTCTCCCCGTTCTCG p.L31Pfs*10 Frameshift 2/48 - 1
8-133880383-CT-AG c.91_92inv p.L31S Missense 2/48 - 3
8-133880379-G-GC c.91dup p.L31Pfs*5 Frameshift 2/48 - 2
8-133880383-CTT-ATG c.91_93delinsATG p.L31M Missense 2/48 - 3
8-133880379-GC-G c.91del p.L31Ffs*13 Frameshift 2/48 - 12
8-133880383-C-A c.91C>A p.L31I Missense 2/48 - 9
8-133880383-C-CG c.91_92insG p.L31Rfs*5 Frameshift 2/48 - 1
8-133880383-C-G c.91C>G p.L31V Missense 2/48 - 4
8-133880383-CTT-TAA c.91_93delinsTAA p.L31* Nonsense 2/48 - 4
8-133880383-C-CCAA c.91_92insCAA p.L31delinsPI MultiAAMissense 2/48 - 1
8-133880379-GCCCCTTCGT-G c.91_99del p.L31_P33del InFrameDeletion 2/48 - 1
8-133880383-C-CCACGG c.91_92insCACGG p.L31Pfs*15 Frameshift 2/48 - 1
8-133880383-CT-AC c.91_92delinsAC p.L31T Missense 2/48 - 1
8-133880383-CT-GA c.91_92delinsGA p.L31D Missense 2/48 - 1
8-133880383-CTT-AAG c.91_93inv p.L31K Missense 2/48 - 1
8-133880383-CT-GC c.91_92delinsGC p.L31A Missense 2/48 - 1
8-133880383-CT-TG c.91_92delinsTG p.L31C Missense 2/48 - 1
8-133880383-C-CAGAGTGCCGGCCGCGGGGCCCTGTCTATG c.91_92insAGAGTGCCGGCCGCGGGGCCCTGTCTATG p.L31Qfs*23 Frameshift 2/48 - 1
8-133880383-C-CAGT c.91_92insAGT p.L31delinsQF MultiAAMissense 2/48 - 1
8-133880384-T-TATGATGATG c.92_93insATGATGATG p.L31_R32ins* Nonsense 2/48 - 1
8-133880384-T-C c.92T>C p.L31P Missense 2/48 - 14
8-133880384-T-A c.92T>A p.L31H Missense 2/48 - 6
8-133880384-T-TA c.92_93insA p.R32Sfs*4 Frameshift 2/48 - 1
8-133880383-C-CTG c.92_93insGT p.R32Ffs*13 Frameshift 2/48 - 2
8-133880382-CCTT-C c.92_94del p.L31del InFrameDeletion 2/48 - 1
8-133880384-T-G c.92T>G p.L31R Missense 2/48 - 3
8-133880382-C-CCTCACG c.92_93insCACGCT p.L31_R32insTL InFrameInsertion 2/48 - 1
8-133880384-TT-AA c.92_93inv p.L31Q Missense 2/48 - 2
8-133880384-CTT-C c.92_93del p.L31Pfs*4 Frameshift 2/48 - 1
8-133880383-CT-C c.93del p.R32Vfs*12 Frameshift 2/48 - 7
8-133880385-T-C c.93T>C p.L31= Synonymous 2/48 - 21
8-133880385-T-G c.93T>G p.L31= Synonymous 2/48 - 13
8-133880385-T-A c.93T>A p.L31= Synonymous 2/48 - 19
8-133880383-C-CT c.93dup p.R32Sfs*4 Frameshift 2/48 - 5
8-133880385-TTC-T c.93_94del p.R32Sfs*3 Frameshift 2/48 - 1
8-133880383-C-CTTT c.93_94insTTT p.L31_R32insF InFrameInsertion 2/48 - 1
8-133880385-T-TA c.93_94insA p.R32Tfs*4 Frameshift 2/48 - 1
8-133880385-T-TTCTC c.93_94insTCTC p.R32Sfs*5 Frameshift 2/48 - 1
8-133880385-T-TTTTGC c.93_94insTTTGC p.R32Ffs*14 Frameshift 2/48 - 1
8-133880386-C-CA c.94_95insA p.R32Qfs*4 Frameshift 2/48 - 1
8-133880386-C-CCTG c.94_95insCTG p.R32delinsPG MultiAAMissense 2/48 - 1
8-133880386-C-T c.94C>T p.R32C Missense 2/48 - 26
8-133880386-C-CAG c.94_95insAG p.R32Qfs*13 Frameshift 2/48 - 1
8-133880386-CGT-GAG c.94_96delinsGAG p.R32E Missense 2/48 - 3
8-133880386-CG-GC c.94_95delinsGC p.R32A Missense 2/48 - 2
8-133880386-C-A c.94C>A p.R32S Missense 2/48 - 9
8-133880386-CGT-AAG c.94_96delinsAAG p.R32K Missense 2/48 - 5
8-133880386-CGT-TGA c.94_96delinsTGA p.R32* Nonsense 2/48 - 5
8-133880386-C-G c.94C>G p.R32G Missense 2/48 - 7
8-133880385-T-TC c.94dup p.R32Pfs*4 Frameshift 2/48 - 1
8-133880385-T-TCTCAGAC c.94_95insTCAGACC p.R32Lfs*6 Frameshift 2/48 - 1
8-133880386-TCGTCCCTGTG-T c.94_103del p.R32Sfs*9 Frameshift 2/48 - 1
8-133880386-CG-GT c.94_95delinsGT p.R32V Missense 2/48 - 1
8-133880386-CGT-TGG c.94_96delinsTGG p.R32W Missense 2/48 - 5
8-133880386-CGT-ATG c.94_96delinsATG p.R32M Missense 2/48 - 1
8-133880386-C-CT c.94_95insT p.R32Lfs*4 Frameshift 2/48 - 1
8-133880386-CG-TA c.94_95delinsTA p.R32Y Missense 2/48 - 2
8-133880386-CG-TT c.94_95delinsTT p.R32F Missense 2/48 - 1
8-133880386-CG-AT c.94_95delinsAT p.R32I Missense 2/48 - 1
8-133880385-T-TCC c.94_95insCC p.R32Pfs*13 Frameshift 2/48 - 1
8-133880386-TC-T c.94del p.R32Vfs*12 Frameshift 2/48 - 1
8-133880387-G-GCGCCGC c.95_96insCGCCGC p.R32_P33insAA InFrameInsertion 2/48 - 1
8-133880387-G-T c.95G>T p.R32L Missense 2/48 - 7
8-133880387-G-A c.95G>A p.R32H Missense 2/48 - 20
8-133880384-TTCG-T c.95_97del p.R32del InFrameDeletion 2/48 - 1
8-133880387-G-C c.95G>C p.R32P Missense 2/48 - 4
8-133880387-CGT-C c.95_96del p.R32Pfs*3 Frameshift 2/48 - 2
8-133880387-G-GGAAGAGAAGAGAAA c.95_96insGAAGAGAAGAGAAA p.P33Kfs*16 Frameshift 2/48 - 1
8-133880387-GT-AA c.95_96delinsAA p.R32Q Missense 2/48 - 3
8-133880387-CG-C c.95del p.R32Lfs*12 Frameshift 2/48 - 2
8-133880386-C-CGGG c.95_96insGGG p.R32_P33insG InFrameInsertion 2/48 - 1
8-133880387-G-GGCTGCCGCA c.95_96insGCTGCCGCA p.R32_P33insLPH InFrameInsertion 2/48 - 1
8-133880387-G-GGCCAGA c.95_96insGCCAGA p.P33_C34insDP InFrameInsertion 2/48 - 1
8-133880386-C-CG c.95dup p.P33Sfs*3 Frameshift 2/48 - 1
8-133880385-TCGTC-T c.95_98del p.R32Pfs*11 Frameshift 2/48 - 1
8-133880388-GTCCCT-G c.96_100del p.P33* Frameshift 2/48 - 1
8-133880388-T-G c.96T>G p.R32= Synonymous 2/48 - 9
8-133880388-T-A c.96T>A p.R32= Synonymous 2/48 - 9
8-133880388-T-C c.96T>C p.R32= Synonymous 2/48 - 12
8-133880387-G-GT c.96dup p.P33Sfs*3 Frameshift 2/48 - 2
8-133880388-GT-G c.96del p.C34Vfs*10 Frameshift 2/48 - 4
8-133880388-T-TGCGGCG c.96_97insGCGGCG p.R32_P33insAA InFrameInsertion 2/48 - 1
8-133880388-GTC-G c.96_97del p.P33Lfs*2 Frameshift 2/48 - 1
8-133880388-T-TAGGGGTCAGTGATGGGATAATAAGGAG c.96_97insAGGGGTCAGTGATGGGATAATAAGGAG p.R32_P33insRGQ* Frameshift 2/48 - 1
8-133880389-C-CT c.97_98insT p.P33Lfs*3 Frameshift 2/48 - 2
8-133880389-C-CG c.97_98insG p.P33Rfs*3 Frameshift 2/48 - 1
8-133880389-C-T c.97C>T p.P33S Missense 2/48 - 25
8-133880389-C-G c.97C>G p.P33A Missense 2/48 - 7
8-133880389-CCC-TAA c.97_99delinsTAA p.P33* Nonsense 2/48 - 1
8-133880389-C-A c.97C>A p.P33T Missense 2/48 - 6
8-133880389-CC-TT c.97_98delinsTT p.P33F Missense 2/48 - 1
8-133880389-C-CTG c.97_98insTG p.P33Lfs*12 Frameshift 2/48 - 1
8-133880389-TCCC-T c.97_99del p.P33del InFrameDeletion 2/48 - 2
8-133880390-C-A c.98C>A p.P33H Missense 2/48 - 11
8-133880390-C-T c.98C>T p.P33L Missense 2/48 - 30
8-133880388-TCC-T c.98_99del p.P33Lfs*2 Frameshift 2/48 - 1
8-133880390-C-G c.98C>G p.P33R Missense 2/48 - 3
8-133880390-C-CAA c.98_99insAA p.C34Tfs*11 Frameshift 2/48 - 1
8-133880388-T-TCCAGCGCCGGGCCGCG c.98_99insAGCGCCGGGCCGCGCC p.C34Afs*7 Frameshift 2/48 - 1
8-133880390-CC-AA c.98_99delinsAA p.P33Q Missense 2/48 - 1
8-133880391-C-CGTATTTAT c.99_100insGTATTTAT p.C34Vfs*13 Frameshift 2/48 - 1
8-133880391-C-T c.99C>T p.P33= Synonymous 2/48 - 15
8-133880391-C-G c.99C>G p.P33= Synonymous 2/48 - 9
8-133880388-TC-T c.99del p.C34Vfs*10 Frameshift 2/48 - 4
8-133880389-CCCTGTGAGCTG-C c.99_109del p.C34Efs*42 Frameshift 2/48 - 1
8-133880391-C-A c.99C>A p.P33= Synonymous 2/48 - 8
8-133880391-C-CGA c.99_100insGA p.C34Dfs*11 Frameshift 2/48 - 1
8-133880388-T-TC c.99dup p.C34Lfs*2 Frameshift 2/48 - 5
8-133880391-C-CCACCCT c.99_100insCACCCT p.P33_C34insHP InFrameInsertion 2/48 - 1
8-133880391-C-CCATTCA c.99_100insCATTCA p.P33_C34insHS InFrameInsertion 2/48 - 1
8-133880391-C-CCTG c.99_100insCTG p.P33_C34insL InFrameInsertion 2/48 - 1
8-133880392-TG-GC c.100_101delinsGC p.C34A Missense 2/48 - 4
8-133880392-TG-AC c.100_101delinsAC p.C34T Missense 2/48 - 15
8-133880389-C-CCCTCCT c.100_101insCCTCCT p.P33_C34insSS InFrameInsertion 2/48 - 1
8-133880392-T-TACAC c.100_101insACAC p.C34Yfs*3 Frameshift 2/48 - 1
8-133880392-T-C c.100T>C p.C34R Missense 2/48 - 12
8-133880392-T-A c.100T>A p.C34S Missense 2/48 - 9
8-133880393-G-C c.101G>C p.C34S Missense 2/48 - 9
8-133880392-T-G c.100T>G p.C34G Missense 2/48 - 13
8-133880392-TGT-GGC c.100_102delinsGGC p.C34G Missense 2/48 - 1
8-133880392-CTGTG-C c.100_103del p.C34Sfs*9 Frameshift 2/48 - 1
8-133880392-TG-AA c.100_101delinsAA p.C34N Missense 2/48 - 1
8-133880392-CT-C c.100del p.C34Vfs*10 Frameshift 2/48 - 1
8-133880392-TGT-GAG c.100_102delinsGAG p.C34E Missense 2/48 - 1
8-133880393-G-A c.101G>A p.C34Y Missense 2/48 - 15
8-133880393-G-T c.101G>T p.C34F Missense 2/48 - 5
8-133880393-G-GA c.101_102insA p.C34* Nonsense 2/48 - 1
8-133880392-T-TG c.101dup p.C34Wfs*2 Frameshift 2/48 - 4
8-133880393-G-GC c.101_102insC p.E35* Nonsense 2/48 - 1
8-133880394-T-C c.102T>C p.C34= Synonymous 2/48 - 12
8-133880392-TGTGAGCTGCAGAGGGAAACGGCCTTTCTGAA-T c.102_132del p.E35Kfs*61 Frameshift 2/48 - 1
8-133880393-G-GT c.102dup p.E35* Nonsense 2/48 - 6
8-133880393-G-GTTTC c.102_103insTTCT p.E35Ffs*2 Frameshift 2/48 - 1
8-133880394-GTGA-G c.102_104del p.C34_E35delinsW MultiAAMissense 2/48 - 1
8-133880394-T-A c.102T>A p.C34* Nonsense 2/48 - 11
8-133880394-GT-G c.102del p.C34Wfs*10 Frameshift 2/48 - 3
8-133880394-T-G c.102T>G p.C34W Missense 2/48 - 5
8-133880391-CTG-C c.102_103del p.C34* Frameshift 2/48 - 3
8-133880394-GTGAGCTGCAGAGGGAAACGGCCTTTCT-G c.102_128del p.C34_L43delinsW MultiAAMissense 2/48 - 1
8-133880395-TG-T c.103del p.E35Sfs*9 Frameshift 2/48 - 4
8-133880395-G-A c.103G>A p.E35K Missense 2/48 - 22
8-133880395-GA-TC c.103_104inv p.E35S Missense 2/48 - 2
8-133880395-G-GTTGGTGGTGTT c.103_104insTTGGTGGTGTT p.E35Vfs*13 Frameshift 2/48 - 1
8-133880395-G-T c.103G>T p.E35* Nonsense 2/48 - 12
8-133880395-G-C c.103G>C p.E35Q Missense 2/48 - 8
8-133880395-GAG-TTT c.103_105delinsTTT p.E35F Missense 2/48 - 1
8-133880395-GAG-CAT c.103_105delinsCAT p.E35H Missense 2/48 - 1
8-133880395-GA-AT c.103_104delinsAT p.E35M Missense 2/48 - 2
8-133880394-T-TG c.103dup p.E35Gfs*45 Frameshift 2/48 - 1
8-133880396-A-G c.104A>G p.E35G Missense 2/48 - 17
8-133880396-A-T c.104A>T p.E35V Missense 2/48 - 11
8-133880396-A-C c.104A>C p.E35A Missense 2/48 - 8
8-133880396-A-AACCAGAG c.104_105insACCAGAG p.L36Pfs*46 Frameshift 2/48 - 1
8-133880396-GA-G c.104del p.E35Gfs*9 Frameshift 2/48 - 4
8-133880396-A-AATTC c.104_105insATTC p.L36Ffs*45 Frameshift 2/48 - 1
8-133880394-TGA-T c.104_105del p.E35Afs*44 Frameshift 2/48 - 1
8-133880395-G-GA c.104dup p.L36Afs*44 Frameshift 2/48 - 1
8-133880397-G-C c.105G>C p.E35D Missense 2/48 - 13
8-133880397-G-T c.105G>T p.E35D Missense 2/48 - 18
8-133880397-G-A c.105G>A p.E35= Synonymous 2/48 - 12
8-133880396-A-AG c.105dup p.L36Afs*44 Frameshift 2/48 - 2
8-133880397-G-GGCGC c.105_106insGCGC p.L36Afs*45 Frameshift 2/48 - 1
8-133880397-G-GGTGAACTC c.105_106insGTGAACTC p.L36Vfs*11 Frameshift 2/48 - 1
8-133880397-G-GA c.105_106insA p.L36Tfs*44 Frameshift 2/48 - 1
8-133880397-G-GTA c.105_106insTA p.L36Yfs*9 Frameshift 2/48 - 1
8-133880397-AG-A c.105del p.E35Dfs*9 Frameshift 2/48 - 2
8-133880398-CT-GC c.106_107delinsGC p.L36A Missense 2/48 - 10
8-133880398-C-A c.106C>A p.L36M Missense 2/48 - 10
8-133880395-GAGCTGC-G c.106_111del p.L36_Q37del InFrameDeletion 2/48 - 1
8-133880398-GCT-G c.106_107del p.L36Afs*43 Frameshift 2/48 - 1
8-133880398-CTG-ATC c.106_108delinsATC p.L36I Missense 2/48 - 6
8-133880398-C-CA c.106_107insA p.L36Hfs*44 Frameshift 2/48 - 2
8-133880397-G-GC c.106dup p.L36Pfs*44 Frameshift 2/48 - 4
8-133880398-C-T c.106C>T p.L36= Synonymous 2/48 - 18
8-133880398-CT-TC c.106_107delinsTC p.L36S Missense 2/48 - 4
8-133880398-CTG-TTT c.106_108delinsTTT p.L36F Missense 2/48 - 4
8-133880398-CT-AC c.106_107delinsAC p.L36T Missense 2/48 - 1
8-133880398-CT-TA c.106_107delinsTA p.L36* Nonsense 2/48 - 2
8-133880398-C-G c.106C>G p.L36V Missense 2/48 - 6
8-133880398-CTG-GAC c.106_108delinsGAC p.L36D Missense 2/48 - 1
8-133880398-GC-G c.106del p.L36Cfs*8 Frameshift 2/48 - 2
8-133880398-CT-TG c.106_107delinsTG p.L36W Missense 2/48 - 3
8-133880398-C-CCGCTGGCGCTGG c.106_107insCGCTGGCGCTGG p.L36delinsPLALV MultiAAMissense 2/48 - 1
8-133880397-G-GCCCAC c.106_107insCCACC p.L36Pfs*10 Frameshift 2/48 - 1
8-133880397-G-GCGCCCCATACGGTCGGCATCACCACCGTCACCCCATACGGTCGGCATCACCGCCGT c.106_107insGCCCCATACGGTCGGCATCACCACCGTCACCCCATACGGTCGGCATCACCGCCGTC p.L36Rfs*27 Frameshift 2/48 - 1
8-133880399-T-C c.107T>C p.L36P Missense 2/48 - 17
8-133880399-T-TA c.107_108insA p.Q37Afs*43 Frameshift 2/48 - 2
8-133880399-CTGCAGAGGGAAACGGCCTTTCTGAAGCAAGCAGACTACGTGCCCCAGTGTGCAGAGGAT-C c.107_165del p.L36Rfs*24 MultiAAMissense 2/48 - 1
8-133880399-TG-AT c.107_108delinsAT p.L36H Missense 2/48 - 2
8-133880398-C-CT c.107dup p.Q37Afs*43 Frameshift 2/48 - 2
8-133880399-T-G c.107T>G p.L36R Missense 2/48 - 3
8-133880399-CT-C c.107del p.L36Rfs*8 Frameshift 2/48 - 2
8-133880399-T-A c.107T>A p.L36Q Missense 2/48 - 2
8-133880396-AGCT-A c.107_109del p.L36del InFrameDeletion 2/48 - 1
8-133880399-CTGCAGAGGGA-C c.107_116del p.L36Qfs*5 Frameshift 2/48 - 1
8-133880400-G-A c.108G>A p.L36= Synonymous 2/48 - 17
8-133880400-TG-T c.108del p.Q37Rfs*7 Frameshift 2/48 - 4
8-133880400-G-C c.108G>C p.L36= Synonymous 2/48 - 10
8-133880399-T-TGA c.108_109insAG p.Q37Sfs*8 Frameshift 2/48 - 1
8-133880400-G-T c.108G>T p.L36= Synonymous 2/48 - 13
8-133880399-T-TG c.108dup p.Q37Afs*43 Frameshift 2/48 - 2
8-133880400-G-GTCTTCTTCT c.108_109insTCTTCTTCT p.L36_Q37insSSS InFrameInsertion 2/48 - 1
8-133880397-GCTGCAGAGGGAAACGGC-G c.108_124del p.Q37Sfs*37 Frameshift 2/48 - 1
8-133880400-G-GT c.108_109insT p.Q37Sfs*43 Frameshift 2/48 - 1
8-133880398-C-CTGT c.108_109insTTG p.L36dup InFrameInsertion 2/48 - 1
8-133880401-GC-G c.109del p.Q37Rfs*7 Frameshift 2/48 - 3
8-133880401-C-T c.109C>T p.Q37* Nonsense 2/48 - 22
8-133880399-TGCA-T c.109_111del p.Q37del InFrameDeletion 2/48 - 6
8-133880401-C-G c.109C>G p.Q37E Missense 2/48 - 8
8-133880401-C-A c.109C>A p.Q37K Missense 2/48 - 8
8-133880401-CAG-ATC c.109_111delinsATC p.Q37I Missense 2/48 - 1
8-133880401-CAG-AAC c.109_111delinsAAC p.Q37N Missense 2/48 - 1
8-133880400-G-GC c.109dup p.Q37Pfs*43 Frameshift 2/48 - 3
8-133880402-A-G c.110A>G p.Q37R Missense 2/48 - 10
8-133880402-A-ATGC c.110_111insTGC p.Q37delinsHA MultiAAMissense 2/48 - 1
8-133880402-CA-C c.110del p.Q37Rfs*7 Frameshift 2/48 - 6
8-133880402-A-T c.110A>T p.Q37L Missense 2/48 - 4
8-133880401-C-CAAA c.110_111insAAA p.Q37_R38insK InFrameInsertion 2/48 - 1
8-133880402-A-ACTTTCT c.110_111insCTTTCT p.Q37delinsHFL MultiAAMissense 2/48 - 1
8-133880401-C-CA c.110dup p.R38Efs*42 Frameshift 2/48 - 1
8-133880402-A-AAC c.110_111insAC p.E39Gfs*6 Frameshift 2/48 - 1
8-133880402-A-AC c.110_111insC p.Q37Hfs*43 Frameshift 2/48 - 1
8-133880402-A-C c.110A>C p.Q37P Missense 2/48 - 2
8-133880402-CAGAGGGAAACGGCCTTTCTGAAGCAAG-C c.110_136del p.Q37_A46delinsP MultiAAMissense 2/48 - 1
8-133880402-CAGAGGGAAACGGCCTTT-C c.110_126del p.Q37Pfs*37 Frameshift 2/48 - 1
8-133880400-G-GCACCATGGCCCAGGGCCCTGCGGGCCACCCCCC c.110_111insCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCA p.L36_Q37insHHGPGPCGPPP InFrameInsertion 2/48 - 1
8-133880403-G-GCGTTA c.111_112insCGTTA p.E39* Nonsense 2/48 - 1
8-133880403-G-C c.111G>C p.Q37H Missense 2/48 - 12
8-133880402-A-AGGCGGCGGC c.111_112insGCGGCGGCG p.Q37_R38insAAA InFrameInsertion 2/48 - 1
8-133880403-G-A c.111G>A p.Q37= Synonymous 2/48 - 11
8-133880403-G-T c.111G>T p.Q37H Missense 2/48 - 10
8-133880403-G-GT c.111_112insT p.R38* Nonsense 2/48 - 3
8-133880403-G-GCCAC c.111_112insCCAC p.R38Pfs*43 Frameshift 2/48 - 1
8-133880402-A-AG c.111dup p.R38Efs*42 Frameshift 2/48 - 1
8-133880403-G-GGAA c.111_112insGAA p.Q37_R38insE InFrameInsertion 2/48 - 1
8-133880403-G-GCA c.111_112insCA p.R38Qfs*7 Frameshift 2/48 - 1
8-133880403-AG-A c.111del p.R38Gfs*6 Frameshift 2/48 - 1
8-133880404-AG-GC c.112_113delinsGC p.R38A Missense 2/48 - 3
8-133880404-AG-CC c.112_113delinsCC p.R38P Missense 2/48 - 2
8-133880404-A-T c.112A>T p.R38W Missense 2/48 - 11
8-133880404-AGG-CAT c.112_114delinsCAT p.R38H Missense 2/48 - 5
8-133880404-A-G c.112A>G p.R38G Missense 2/48 - 15
8-133880404-A-C c.112A>C p.R38= Synonymous 2/48 - 11
8-133880404-AG-CT c.112_113inv p.R38L Missense 2/48 - 5
8-133880404-AG-CA c.112_113delinsCA p.R38Q Missense 2/48 - 6
8-133880404-AGG-TTT c.112_114delinsTTT p.R38F Missense 2/48 - 1
8-133880404-GA-G c.112del p.R38Gfs*6 Frameshift 2/48 - 3
8-133880404-A-ATG c.112_113insTG p.R38Mfs*7 Frameshift 2/48 - 2
8-133880404-AG-TA c.112_113delinsTA p.R38* Nonsense 2/48 - 4
8-133880404-AGG-TGT c.112_114delinsTGT p.R38C Missense 2/48 - 5
8-133880404-AG-GA c.112_113delinsGA p.R38E Missense 2/48 - 1
8-133880403-G-GA c.112dup p.R38Kfs*42 Frameshift 2/48 - 1
8-133880405-G-T c.113G>T p.R38M Missense 2/48 - 10
8-133880405-G-C c.113G>C p.R38T Missense 2/48 - 7
8-133880403-GAGGGAAACGGCCTTTCTGAAGCAAGCAGACT-G c.113_143del p.R38Tfs*58 Frameshift 2/48 - 1
8-133880405-GG-TC c.113_114delinsTC p.R38I Missense 2/48 - 2
8-133880405-G-GAACA c.113_114insAACA p.E39Tfs*42 Frameshift 2/48 - 1
8-133880405-G-A c.113G>A p.R38K Missense 2/48 - 18
8-133880405-AGGG-A c.113_115del p.R38_E39delinsK MultiAAMissense 2/48 - 1
8-133880406-GGGAAACGGC-G c.114_122del p.R38_A41delinsS MultiAAMissense 2/48 - 1
8-133880406-G-A c.114G>A p.R38= Synonymous 2/48 - 14
8-133880406-G-C c.114G>C p.R38S Missense 2/48 - 7
8-133880406-G-T c.114G>T p.R38S Missense 2/48 - 8
8-133880406-G-GAAA c.114_115insAAA p.R38_E39insK InFrameInsertion 2/48 - 1
8-133880406-G-GA c.114_115insA p.E39Rfs*41 Frameshift 2/48 - 1
8-133880406-G-GT c.114_115insT p.E39* Nonsense 2/48 - 3
8-133880404-AG-A c.115del p.E39Kfs*5 Frameshift 2/48 - 12
8-133880407-G-GC c.115_116insC p.E39Afs*41 Frameshift 2/48 - 1
8-133880407-G-A c.115G>A p.E39K Missense 2/48 - 28
8-133880407-GGAAACGGCCTTTCTGAAGC-G c.115_133del p.E39Kfs*61 Frameshift 2/48 - 1
8-133880405-G-GGGCGGCGGC c.115_116insCGGCGGCGG p.R38_E39insAAA InFrameInsertion 2/48 - 1
8-133880407-G-GCGTCGT c.115_116insCGTCGT p.E39delinsAS* Frameshift 2/48 - 1
8-133880407-G-T c.115G>T p.E39* Nonsense 2/48 - 11
8-133880407-G-C c.115G>C p.E39Q Missense 2/48 - 6
8-133880407-GAA-ATG c.115_117delinsATG p.E39M Missense 2/48 - 1
8-133880407-GA-AG c.115_116delinsAG p.E39R Missense 2/48 - 2
8-133880404-A-AG c.115dup p.E39Gfs*41 Frameshift 2/48 - 4
8-133880404-A-AGGGGC c.115_116insGCGGG p.E39Gfs*7 Frameshift 2/48 - 1
8-133880407-GA-CT c.115_116delinsCT p.E39L Missense 2/48 - 1
8-133880408-A-AC c.116_117insC p.E39Dfs*41 Frameshift 2/48 - 1
8-133880408-A-T c.116A>T p.E39V Missense 2/48 - 4
8-133880408-A-G c.116A>G p.E39G Missense 2/48 - 8
8-133880408-A-C c.116A>C p.E39A Missense 2/48 - 7
8-133880407-G-GACACCAACACCAACACCA c.116_117insCACCAACACCAACACCAA p.E39delinsDTNTNTK MultiAAMissense 2/48 - 1
8-133880408-A-AGT c.116_117insGT p.T40* Nonsense 2/48 - 1
8-133880408-A-AGTGTGT c.116_117insGTGTGT p.E39_T40insCV InFrameInsertion 2/48 - 1
8-133880407-GAA-G c.117_118del p.E39Dfs*40 Frameshift 2/48 - 2
8-133880409-A-AGAC c.117_118insGAC p.E39_T40insD InFrameInsertion 2/48 - 1
8-133880409-AAACGGCCTT-A c.117_125del p.E39_F42delinsD MultiAAMissense 2/48 - 1
8-133880409-A-G c.117A>G p.E39= Synonymous 2/48 - 12
8-133880409-A-C c.117A>C p.E39D Missense 2/48 - 10
8-133880409-AAACGGCCT-A c.117_124del p.E39Dfs*38 Frameshift 2/48 - 1
8-133880409-A-T c.117A>T p.E39D Missense 2/48 - 11
8-133880409-A-AC c.117_118insC p.T40Hfs*40 Frameshift 2/48 - 1
8-133880408-A-AAT c.117_118insTA p.T40* Nonsense 2/48 - 1
8-133880410-A-G c.118A>G p.T40A Missense 2/48 - 16
8-133880407-GA-G c.118del p.T40Rfs*4 Frameshift 2/48 - 4
8-133880410-A-C c.118A>C p.T40P Missense 2/48 - 6
8-133880410-AACGGCCTTTCTGAAGCAAG-A c.118_136del p.T40Qfs*60 Frameshift 2/48 - 1
8-133880410-A-T c.118A>T p.T40S Missense 2/48 - 3
8-133880410-AC-TA c.118_119delinsTA p.T40* Nonsense 2/48 - 2
8-133880410-ACG-TGT c.118_120delinsTGT p.T40C Missense 2/48 - 1
8-133880410-ACG-TTT c.118_120delinsTTT p.T40F Missense 2/48 - 1
8-133880410-AC-CT c.118_119delinsCT p.T40L Missense 2/48 - 1
8-133880410-AC-GT c.118_119inv p.T40V Missense 2/48 - 1
8-133880411-CG-ACCTT c.119_120delinsACCTT p.T40delinsNL MultiAAMissense 2/48 - 1
8-133880410-A-AT c.118_119insT p.T40Ifs*40 Frameshift 2/48 - 1
8-133880407-G-GA c.118dup p.T40Nfs*40 Frameshift 2/48 - 2
8-133880411-CG-TC c.119_120delinsTC p.T40I Missense 2/48 - 13
8-133880411-C-T c.119C>T p.T40M Missense 2/48 - 23
8-133880411-C-A c.119C>A p.T40K Missense 2/48 - 10
8-133880408-A-AAACACAAC c.119_120insACAACAAC p.A41Qfs*6 Frameshift 2/48 - 1
8-133880407-G-GAAACAAAACGGGAGCTA c.119_120insAAAACGGGAGCTAAAAC p.A41Kfs*9 Frameshift 2/48 - 1
8-133880407-G-GAAACAAAACGGGAGCTAAAACGGGAGCTA c.119_120insAAAACGGGAGCTAAAACGGGAGCTAAAAC p.A41Kfs*13 Frameshift 2/48 - 1
8-133880411-AC-A c.119del p.T40Rfs*4 Frameshift 2/48 - 3
8-133880411-C-G c.119C>G p.T40R Missense 2/48 - 5
8-133880410-A-ACCCCAAGCTCAAGCAATTCTCCTGCCTCAGCCTCC c.119_120insCCCAAGCTCAAGCAATTCTCCTGCCTCAGCCTCCC p.A41Pfs*15 Frameshift 2/48 - 1
8-133880411-CG-AC c.119_120delinsAC p.T40N Missense 2/48 - 2
8-133880410-A-ACTGAATT c.119_120insTGAATTC p.A41Efs*41 Frameshift 2/48 - 1
8-133880410-A-ACTAC c.119_120insTACC p.A41Tfs*40 Frameshift 2/48 - 1
8-133880410-A-AC c.119dup p.A41Gfs*39 Frameshift 2/48 - 1
8-133880412-G-GTTATTA c.120_121insTTATTA p.T40_A41insLL InFrameInsertion 2/48 - 1
8-133880412-G-A c.120G>A p.T40= Synonymous 2/48 - 17
8-133880412-CGGCCTTT-C c.120_126del p.A41* Frameshift 2/48 - 1
8-133880412-G-C c.120G>C p.T40= Synonymous 2/48 - 11
8-133880412-G-T c.120G>T p.T40= Synonymous 2/48 - 8
8-133880410-A-ACGCCCTTGC c.120_121insCCCTTGCCG p.T40_A41insPLP InFrameInsertion 2/48 - 1
8-133880412-CGG-C c.120_121del p.A41Lfs*38 Frameshift 2/48 - 1
8-133880412-G-GCCCAAGCCCAAC c.120_121insCCCAAGCCCAAC p.T40_A41insPKPN InFrameInsertion 2/48 - 1
8-133880411-C-CGCCAGAA c.120_121insCCAGAAG p.A41Pfs*41 Frameshift 2/48 - 1
8-133880411-C-CGAGCCGCCT c.120_121insAGCCGCCTG p.T40_A41insSRL InFrameInsertion 2/48 - 1
8-133880412-G-GT c.120_121insT p.A41Cfs*39 Frameshift 2/48 - 1
8-133880413-G-A c.121G>A p.A41T Missense 2/48 - 23
8-133880413-GC-TA c.121_122delinsTA p.A41Y Missense 2/48 - 1
8-133880413-G-GACTCAGCCTTCATGCTTCCTCTGCCC c.121_122insACTCAGCCTTCATGCTTCCTCTGCCC p.A41Dfs*12 Frameshift 2/48 - 1
8-133880413-GGCC-G c.121_123del p.A41del InFrameDeletion 2/48 - 1
8-133880413-G-GGAATT c.121_122insGAATT p.A41Gfs*5 Frameshift 2/48 - 1
8-133880410-A-ACGGGAGC c.121_122insGAGCCGG p.A41Gfs*41 Frameshift 2/48 - 1
8-133880413-G-GATTGGGCT c.121_122insATTGGGCT p.A41Dfs*6 Frameshift 2/48 - 1
8-133880411-C-CGGATTGGGCTCTCA c.121_122insATTGGGCTCTCAGG p.A41Dfs*8 Frameshift 2/48 - 1
8-133880413-G-C c.121G>C p.A41P Missense 2/48 - 6
8-133880413-G-T c.121G>T p.A41S Missense 2/48 - 13
8-133880413-GC-CG c.121_122delinsCG p.A41R Missense 2/48 - 3
8-133880413-GC-AA c.121_122delinsAA p.A41N Missense 2/48 - 3
8-133880413-GCC-CAA c.121_123delinsCAA p.A41Q Missense 2/48 - 1
8-133880413-G-GA c.121_122insA p.A41Dfs*39 Frameshift 2/48 - 1
8-133880413-GC-TT c.121_122delinsTT p.A41F Missense 2/48 - 6
8-133880412-G-GGT c.121_122insTG p.A41Vfs*4 Frameshift 2/48 - 1
8-133880413-G-GTGAACCAGGGCCTGCCATTGCCACTGAACCAGGGCCCGC c.121_122insTGAACCAGGGCCTGCCATTGCCACTGAACCAGGGCCCGC p.A41delinsVNQGLPLPLNQGPP MultiAAMissense 2/48 - 1
8-133880413-GC-TG c.121_122delinsTG p.A41C Missense 2/48 - 3
8-133880411-CG-C c.121del p.A41Pfs*3 Frameshift 2/48 - 7
8-133880413-GCC-AAG c.121_123delinsAAG p.A41K Missense 2/48 - 2
8-133880413-G-GTCAGACCTGCTATTAATGTGGCTATATCCGTTTCAAGAGTGGGTTCTGCATCTCAAATAAAAGACATGAAACAGGTAGTTTGTTAATTAAAATTAGAA c.121_122insTCAGACCTGCTATTAATGTGGCTATATCCGTTTCAAGAGTGGGTTCTGCATCTCAAATAAAAGACATGAAACAGGTAGTTTGTTAATTAAAATTAGAA p.A41Vfs*29 Frameshift 2/48 - 1
8-133880413-GCC-TGG c.121_123delinsTGG p.A41W Missense 2/48 - 1
8-133880413-GCC-TAA c.121_123delinsTAA p.A41* Nonsense 2/48 - 1
8-133880413-GC-AT c.121_122delinsAT p.A41I Missense 2/48 - 2
8-133880413-GC-CT c.121_122delinsCT p.A41L Missense 2/48 - 1
8-133880411-C-CG c.121dup p.A41Gfs*39 Frameshift 2/48 - 2
8-133880414-C-T c.122C>T p.A41V Missense 2/48 - 23
8-133880414-C-G c.122C>G p.A41G Missense 2/48 - 5
8-133880414-C-A c.122C>A p.A41D Missense 2/48 - 11
8-133880414-CC-AG c.122_123delinsAG p.A41E Missense 2/48 - 4
8-133880414-GCCTTTCT-G c.122_128del p.A41Gfs*63 Frameshift 2/48 - 1
8-133880414-C-CACCGT c.122_123insACCGT p.F42Pfs*4 Frameshift 2/48 - 1
8-133880415-C-A c.123C>A p.A41= Synonymous 2/48 - 19
8-133880415-C-G c.123C>G p.A41= Synonymous 2/48 - 21
8-133880415-C-T c.123C>T p.A41= Synonymous 2/48 - 26
8-133880413-GC-G c.123del p.L43* Frameshift 2/48 - 9
8-133880413-G-GCCA c.123_124insACC p.A41_F42insT InFrameInsertion 2/48 - 1
8-133880415-CT-A c.123_124delinsA p.L43* Frameshift 2/48 - 1
8-133880415-C-CATA c.123_124insATA p.A41_F42insI InFrameInsertion 2/48 - 1
8-133880415-C-CACAT c.123_124insACAT p.F42Tfs*39 Frameshift 2/48 - 1
8-133880415-CCTT-C c.123_125del p.F42del InFrameDeletion 2/48 - 1
8-133880414-C-CCA c.123_124insAC p.F42Tfs*3 Frameshift 2/48 - 1
8-133880413-G-GC c.123dup p.F42Lfs*38 Frameshift 2/48 - 2
8-133880415-CCTTTCTGAAGCAAGCA-C c.123_138del p.F42Tfs*59 Frameshift 2/48 - 1
8-133880415-C-CGTGGACCG c.123_124insGTGGACCG p.F42Vfs*5 Frameshift 2/48 - 1
8-133880414-C-CCAGCAGCAG c.123_124insAGCAGCAGC p.A41_F42insSSS InFrameInsertion 2/48 - 1
8-133880416-T-C c.124T>C p.F42L Missense 2/48 - 10
8-133880418-T-A c.126T>A p.F42L Missense 2/48 - 13
8-133880418-T-G c.126T>G p.F42L Missense 2/48 - 9
8-133880416-TT-GC c.124_125delinsGC p.F42A Missense 2/48 - 4
8-133880416-CTTTCTGAAGCAAGCA-C c.124_138del p.F42_A46del InFrameDeletion 2/48 - 1
8-133880414-CCTTTCTGAAGCAAGCAGACTA-C c.124_144del p.F42_Y48del InFrameDeletion 2/48 - 1
8-133880416-TT-AA c.124_125inv p.F42N Missense 2/48 - 1
8-133880416-T-G c.124T>G p.F42V Missense 2/48 - 3
8-133880416-CTTTCTGAAGCAAGCAGACTACGTGCCCCAGTGTGCAGAGGAT-C c.124_165del p.F42_D55del InFrameDeletion 2/48 - 1
8-133880413-G-GCCTGACACCCTCACTCCTCACCCTGGACACCCTCACTCAC c.124_125insGACACCCTCACTCCTCACCCTGGACACCCTCACTCACCCT p.F42* Nonsense 2/48 - 1
8-133880416-CTTTCTGA-C c.124_130del p.F42Sfs*62 Frameshift 2/48 - 1
8-133880416-TT-GA c.124_125delinsGA p.F42D Missense 2/48 - 3
8-133880416-T-A c.124T>A p.F42I Missense 2/48 - 2
8-133880416-TT-CC c.124_125delinsCC p.F42P Missense 2/48 - 1
8-133880414-CCTTTCTGAAGCAAGCAGACTACGTGCCCCAGTGTGCAGAGGATGG-C c.124_168del p.F42_G56del InFrameDeletion 2/48 - 1
8-133880415-C-CTAT c.124_125insATT p.A41_F42insY InFrameInsertion 2/48 - 1
8-133880416-TT-CG c.124_125delinsCG p.F42R Missense 2/48 - 1
8-133880416-CTTTCTGAAG-C c.124_132del p.F42_K44del InFrameDeletion 2/48 - 1
8-133880417-T-C c.125T>C p.F42S Missense 2/48 - 11
8-133880417-T-G c.125T>G p.F42C Missense 2/48 - 3
8-133880417-T-A c.125T>A p.F42Y Missense 2/48 - 3
8-133880417-TT-AA c.125_126inv p.F42* Nonsense 2/48 - 1
8-133880417-T-TGGCCATGGC c.125_126insGGCCATGGC p.F42delinsLAMA MultiAAMissense 2/48 - 1
8-133880415-CT-C c.126del p.L43* Frameshift 2/48 - 5
8-133880415-C-CT c.126dup p.L43Sfs*37 Frameshift 2/48 - 7
8-133880418-TTCTGAAGCAAGC-T c.126_137del p.F42_A46delinsL MultiAAMissense 2/48 - 1
8-133880418-T-C c.126T>C p.F42= Synonymous 2/48 - 17
8-133880417-T-TTGTGATGCTGGAGACTTATAACAGCCTGCTATCATTACAGGAGTTGG c.126_127insGTGATGCTGGAGACTTATAACAGCCTGCTATCATTACAGGAGTTGGT p.L43Vfs*17 Frameshift 2/48 - 1
8-133880418-T-TTCCAGCAGCTGCTCCAGC c.126_127insTCCAGCAGCTGCTCCAGC p.F42_L43insSSSCSS InFrameInsertion 2/48 - 1
8-133880418-TTCTGAAGCAAGCAGA-T c.126_140del p.L43_D47del InFrameDeletion 2/48 - 1
8-133880418-T-TGCTCCTACAA c.126_127insGCTCCTACAA p.L43Afs*40 Frameshift 2/48 - 1
8-133880418-TTCTGAAGC-T c.126_133del p.F42Lfs*35 Frameshift 2/48 - 1
8-133880418-TTCTGAAGCAAGCAGACTACGTGCCCCA-T c.126_152del p.F42_Q51delinsL MultiAAMissense 2/48 - 1
8-133880415-C-CTTTTTAAG c.126_127insTTAAGTTT p.K44Sfs*3 Frameshift 2/48 - 1
8-133880417-T-TTTTAAACA c.126_127insTTAAACAT p.K44Nfs*3 Frameshift 2/48 - 1
8-133880418-T-TA c.126_127insA p.L43Tfs*37 Frameshift 2/48 - 1
8-133880417-T-TTATCAAAAAAGGTGGCTTCTTC c.126_127insATCAAAAAAGGTGGCTTCTTCT p.L43Ifs*44 Frameshift 2/48 - 1
8-133880419-C-T c.127C>T p.L43= Synonymous 2/48 - 24
8-133880418-T-TC c.127dup p.L43Pfs*37 Frameshift 2/48 - 3
8-133880419-C-A c.127C>A p.L43M Missense 2/48 - 5
8-133880419-C-G c.127C>G p.L43V Missense 2/48 - 10
8-133880419-CTG-TTT c.127_129delinsTTT p.L43F Missense 2/48 - 5
8-133880419-CT-AC c.127_128delinsAC p.L43T Missense 2/48 - 1
8-133880419-CTG-ATC c.127_129delinsATC p.L43I Missense 2/48 - 4
8-133880419-TCTG-T c.127_129del p.L43del InFrameDeletion 2/48 - 1
8-133880417-TTC-T c.127_128del p.L43Efs*36 Frameshift 2/48 - 1
8-133880419-TC-T c.127del p.L43* Frameshift 2/48 - 3
8-133880419-CT-TC c.127_128delinsTC p.L43S Missense 2/48 - 3
8-133880419-CT-TA c.127_128delinsTA p.L43* Nonsense 2/48 - 1
8-133880419-C-CATGGGGAT c.127_128insATGGGGAT p.L43Hfs*4 Frameshift 2/48 - 1
8-133880418-T-TCACTGCGAGACGCCAGGCGTGAAGACCCTGTGTAATCTGAGTGAAGACCCTGTGTAATCTGAAG c.127_128insACTGCGAGACGCCAGGCGTGAAGACCCTGTGTAATCTGAGTGAAGACCCTGTGTAATCTGAAGC p.L43Hfs*19 Frameshift 2/48 - 1
8-133880419-CT-GC c.127_128delinsGC p.L43A Missense 2/48 - 1
8-133880419-C-CTT c.128_129insTT p.K44* Nonsense 2/48 - 1
8-133880420-T-C c.128T>C p.L43P Missense 2/48 - 13
8-133880420-T-A c.128T>A p.L43Q Missense 2/48 - 4
8-133880420-CT-C c.128del p.L43Rfs*63 Frameshift 2/48 - 4
8-133880419-C-CT c.128dup p.K44Efs*36 Frameshift 2/48 - 2
8-133880419-C-CTTACAT c.128_129insTACATT p.L43_K44insTL InFrameInsertion 2/48 - 1
8-133880420-T-TA c.128_129insA p.K44Efs*36 Frameshift 2/48 - 1
8-133880420-CTGAAGCAAGCAGACTA-C c.128_143del p.L43Pfs*58 Frameshift 2/48 - 1
8-133880420-T-TTTGA c.128_129insTTGA p.K44* Nonsense 2/48 - 1
8-133880420-T-G c.128T>G p.L43R Missense 2/48 - 3
8-133880420-TG-CC c.128_129delinsCC p.L43P Missense 2/48 - 1
8-133880421-G-GT c.129_130insT p.K44* Nonsense 2/48 - 3
8-133880421-G-A c.129G>A p.L43= Synonymous 2/48 - 18
8-133880421-G-C c.129G>C p.L43= Synonymous 2/48 - 10
8-133880421-TGAAGCAAGCAGA-T c.129_140del p.K44_D47del InFrameDeletion 2/48 - 2
8-133880421-G-T c.129G>T p.L43= Synonymous 2/48 - 11
8-133880421-TG-T c.129del p.K44Sfs*62 Frameshift 2/48 - 3
8-133880420-T-TG c.129dup p.K44Efs*36 Frameshift 2/48 - 2
8-133880421-G-GGGCTGTGGCTCC c.129_130insGGCTGTGGCTCC p.L43_K44insGCGS InFrameInsertion 2/48 - 1
8-133880422-AA-GC c.130_131delinsGC p.K44A Missense 2/48 - 72
8-133880422-A-C c.130A>C p.K44Q Missense 2/48 - 12
8-133880422-A-T c.130A>T p.K44* Nonsense 2/48 - 7
8-133880422-A-G c.130A>G p.K44E Missense 2/48 - 18
8-133880420-TGAA-T c.130_132del p.K44del InFrameDeletion 2/48 - 3
8-133880421-G-GAGCTCTGGGGGCTGCTGT c.130_131insGCTCTGGGGGCTGCTGTA p.L43_K44insSSGGCC InFrameInsertion 2/48 - 1
8-133880422-AA-CC c.130_131delinsCC p.K44P Missense 2/48 - 2
8-133880422-AAG-TTT c.130_132delinsTTT p.K44F Missense 2/48 - 1
8-133880422-AA-CT c.130_131delinsCT p.K44L Missense 2/48 - 1
8-133880422-GAA-G c.130_131del p.K44Afs*35 Frameshift 2/48 - 1
8-133880423-A-G c.131A>G p.K44R Missense 2/48 - 13
8-133880423-A-ATGTGGTT c.131_132insTGTGGTT p.K44Nfs*38 Frameshift 2/48 - 1
8-133880423-A-ACGGCGG c.131_132insCGGCGG p.K44delinsNGG MultiAAMissense 2/48 - 1
8-133880423-A-ACAT c.131_132insCAT p.K44delinsNM MultiAAMissense 2/48 - 1
8-133880422-A-AACCAC c.131_132insCCACA p.K44Nfs*64 Frameshift 2/48 - 1
8-133880423-A-T c.131A>T p.K44M Missense 2/48 - 4
8-133880421-GA-G c.131del p.K44Sfs*62 Frameshift 2/48 - 4
8-133880423-A-C c.131A>C p.K44T Missense 2/48 - 5
8-133880421-G-GA c.131dup p.Q45Afs*35 Frameshift 2/48 - 2
8-133880423-AG-TC c.131_132delinsTC p.K44I Missense 2/48 - 4
8-133880423-AG-GC c.131_132delinsGC p.K44S Missense 2/48 - 1
8-133880423-A-AAAC c.131_132insAAC p.K44_Q45insT InFrameInsertion 2/48 - 1
8-133880424-G-A c.132G>A p.K44= Synonymous 2/48 - 17
8-133880422-A-AAGGAGG c.132_133insGAGGAG p.K44_Q45insEE InFrameInsertion 2/48 - 1
8-133880424-G-C c.132G>C p.K44N Missense 2/48 - 4
8-133880424-G-T c.132G>T p.K44N Missense 2/48 - 9
8-133880424-AG-A c.132del p.K44Nfs*62 Frameshift 2/48 - 4
8-133880424-G-GT c.132_133insT p.Q45Sfs*35 Frameshift 2/48 - 1
8-133880424-AGCAAGCAGACTACGTGCCCCAGTG-A c.132_155del p.K44_C52delinsN MultiAAMissense 2/48 - 1
8-133880423-A-AG c.132dup p.Q45Afs*35 Frameshift 2/48 - 1
8-133880424-G-GA c.132_133insA p.Q45Tfs*35 Frameshift 2/48 - 1
8-133880425-C-CTTTTG c.133_134insTTTTG p.Q45Lfs*63 Frameshift 2/48 - 1
8-133880424-G-GC c.133dup p.Q45Pfs*35 Frameshift 2/48 - 2
8-133880425-C-A c.133C>A p.Q45K Missense 2/48 - 4
8-133880424-G-GCTC c.133_134insTCC p.K44_Q45insL InFrameInsertion 2/48 - 1
8-133880425-C-T c.133C>T p.Q45* Nonsense 2/48 - 19
8-133880425-C-G c.133C>G p.Q45E Missense 2/48 - 4
8-133880425-C-CTTTTTTTTCAAGCAGAAGACGGCATACGAGATTAGCTTGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCCCGCGATGCTCCCAGCCCGGTGAGACCTGCCTGAATGGCGGGAAGTGTGAAGCGGCCAATGGCACGGAGG c.133_134insTTTTTTTTCAAGCAGAAGACGGCATACGAGATTAGCTTGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCCCGCGATGCTCCCAGCCCGGTGAGACCTGCCTGAATGGCGGGAAGTGTGAAGCGGCCAATGGCACGGAGG p.Q45Lfs*12 Frameshift 2/48 - 1
8-133880425-C-CTTTTTTTCAAGCAGAAGACGGCATACGAGATCTTGTACTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTATCAATCATAAGAACAATGATT c.133_134insTTTTTTTCAAGCAGAAGACGGCATACGAGATCTTGTACTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTATCAATCATAAGAACAATGATT p.Q45Lfs*93 Frameshift 2/48 - 1
8-133880422-AAGCAAGCAGACTACGTGCCCC-A c.133_153del p.Q45_Q51del InFrameDeletion 2/48 - 1
8-133880425-GCAAGCAGACTACGTGCCCCAGTGTGCAGAGGATGGCAGCTTCCA-G c.133_176del p.Q45Dfs*20 SpliceDonorDeletion 2/48 - 1
8-133880425-C-CGCTGCCCCGCAG c.133_134insGCTGCCCCGCAG p.Q45delinsRCPAE MultiAAMissense 2/48 - 1
8-133880425-GC-G c.133del p.Q45Kfs*61 Frameshift 2/48 - 1
8-133880422-A-AAGCAGC c.134_135insGCAGCA p.Q45_A46insQQ InFrameInsertion 2/48 - 1
8-133880426-A-AGGC c.134_135insGGC p.A46dup InFrameInsertion 2/48 - 1
8-133880426-A-C c.134A>C p.Q45P Missense 2/48 - 5
8-133880426-A-G c.134A>G p.Q45R Missense 2/48 - 14
8-133880426-A-T c.134A>T p.Q45L Missense 2/48 - 2
8-133880425-C-CATATA c.134_135insTATAA p.Q45Hfs*63 Frameshift 2/48 - 1
8-133880425-C-CAT c.134_135insTA p.Q45Hfs*62 Frameshift 2/48 - 1
8-133880424-GCAAGCAGACTA-G c.134_144del p.Q45Rfs*31 Frameshift 2/48 - 1
8-133880425-C-CA c.135dup p.A46Sfs*34 Frameshift 2/48 - 3
8-133880427-A-AC c.135_136insC p.A46Rfs*34 Frameshift 2/48 - 1
8-133880425-CA-C c.135del p.A46Qfs*60 Frameshift 2/48 - 4
8-133880427-AAGCAGACTACGTGCCCCAGTGTG-A c.135_157del p.Q45Hfs*27 Frameshift 2/48 - 1
8-133880421-GAAGC-G c.135_138del p.A46Tfs*59 Frameshift 2/48 - 1
8-133880427-A-G c.135A>G p.Q45= Synonymous 2/48 - 7
8-133880427-A-C c.135A>C p.Q45H Missense 2/48 - 8
8-133880427-A-T c.135A>T p.Q45H Missense 2/48 - 8
8-133880427-AAG-A c.135_136del p.Q45Hfs*34 Frameshift 2/48 - 2
8-133880424-GCAAGCAGACTACGTGCCC-G c.135_152del p.A46_Q51del InFrameDeletion 2/48 - 1
8-133880426-A-AACCCC c.135_136insCCCCA p.A46Pfs*62 Frameshift 2/48 - 1
8-133880427-A-ACAGCCAAGCTGCTGTGAGACCAAGCTGCTGCCAGACCAGCTTCTGC c.135_136insCAGCCAAGCTGCTGTGAGACCAAGCTGCTGCCAGACCAGCTTCTGC p.A46Qfs*49 Frameshift 2/48 - 1
8-133880428-GC-AG c.136_137delinsAG p.A46R Missense 2/48 - 7
8-133880428-G-T c.136G>T p.A46S Missense 2/48 - 17
8-133880428-G-A c.136G>A p.A46T Missense 2/48 - 22
8-133880428-G-GTC c.136_137insTC p.A46Vfs*61 Frameshift 2/48 - 1
8-133880428-G-GT c.136_137insT p.A46Vfs*34 Frameshift 2/48 - 2
8-133880428-AGCAGACTACGTGCCC-A c.136_150del p.A46_P50del InFrameDeletion 2/48 - 1
8-133880428-G-C c.136G>C p.A46P Missense 2/48 - 6
8-133880428-AG-A c.136del p.A46Qfs*60 Frameshift 2/48 - 2
8-133880428-GCA-ATG c.136_138delinsATG p.A46M Missense 2/48 - 2
8-133880427-A-AG c.136dup p.A46Gfs*34 Frameshift 2/48 - 4
8-133880427-A-AGGTGGCATT c.136_137insGTGGCATTG p.Q45_A46insGGI InFrameInsertion 2/48 - 1
8-133880428-GCA-TGT c.136_138delinsTGT p.A46C Missense 2/48 - 4
8-133880428-GCA-TTT c.136_138delinsTTT p.A46F Missense 2/48 - 3
8-133880428-AGC-A c.136_137del p.A46Rfs*33 Frameshift 2/48 - 1
8-133880428-GC-TA c.136_137delinsTA p.A46* Nonsense 2/48 - 1
8-133880428-GC-AT c.136_137delinsAT p.A46I Missense 2/48 - 2
8-133880428-GCA-CAT c.136_138delinsCAT p.A46H Missense 2/48 - 1
8-133880428-GCA-TAT c.136_138delinsTAT p.A46Y Missense 2/48 - 1
8-133880428-GC-CT c.136_137delinsCT p.A46L Missense 2/48 - 1
8-133880429-C-CTTG c.137_138insTTG p.A46_D47ins* Nonsense 2/48 - 1
8-133880429-C-CTTTG c.137_138insTTTG p.D47Lfs*34 Frameshift 2/48 - 1
8-133880429-C-G c.137C>G p.A46G Missense 2/48 - 5
8-133880429-C-T c.137C>T p.A46V Missense 2/48 - 26
8-133880429-C-CCAG c.137_138insCAG p.A46_D47insR InFrameInsertion 2/48 - 1
8-133880429-C-A c.137C>A p.A46E Missense 2/48 - 12
8-133880429-C-CCTCCGGCTGTGG c.137_138insCTCCGGCTGTGG p.A46_D47insSGCG InFrameInsertion 2/48 - 1
8-133880429-GC-G c.137del p.A46Efs*60 Frameshift 2/48 - 1
8-133880429-CA-AC c.137_138delinsAC p.A46D Missense 2/48 - 6
8-133880429-C-CGGTG c.137_138insGGTG p.D47Vfs*34 Frameshift 2/48 - 1
8-133880428-G-GC c.137dup p.D47Rfs*33 Frameshift 2/48 - 3
8-133880429-C-CTGCAGGTG c.137_138insTGCAGGTG p.D47Afs*62 Frameshift 2/48 - 5
8-133880429-C-CTG c.137_138insTG p.D47Efs*60 Frameshift 2/48 - 3
8-133880429-GCA-G c.137_138del p.A46Gfs*33 Frameshift 2/48 - 1
8-133880426-AAGCAGACTACGTGCCCCAGTGTGCAGAGGATGGCAGCTTCCAGTAAGGCTTATGTCAGC-A c.138_176+20del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 2
8-133880427-A-AGCCATGGCG c.137_138insCATGGCGGC p.A46_D47insMAA InFrameInsertion 2/48 - 1
8-133880426-AAGC-A c.137_139del p.A46del InFrameDeletion 2/48 - 1
8-133880430-A-C c.138A>C p.A46= Synonymous 2/48 - 13
8-133880430-A-G c.138A>G p.A46= Synonymous 2/48 - 18
8-133880430-A-T c.138A>T p.A46= Synonymous 2/48 - 15
8-133880430-A-AT c.138_139insT p.D47* Nonsense 2/48 - 2
8-133880430-A-ACCCTACCCATCATCG c.138_139insCCCTACCCATCATCG p.A46_D47insPYPSS InFrameInsertion 2/48 - 1
8-133880430-CA-C c.138del p.D47Tfs*59 Frameshift 2/48 - 1
8-133880429-C-CA c.138dup p.D47Rfs*33 Frameshift 2/48 - 1
8-133880431-GA-TT c.139_140delinsTT p.D47F Missense 2/48 - 1
8-133880431-G-T c.139G>T p.D47Y Missense 2/48 - 10
8-133880431-G-GGAGACACAGAGACACA c.139_140insGAGACACAGAGACACA p.D47Gfs*38 Frameshift 2/48 - 1
8-133880431-G-A c.139G>A p.D47N Missense 2/48 - 19
8-133880431-AG-A c.139del p.D47Tfs*59 Frameshift 2/48 - 1
8-133880431-G-C c.139G>C p.D47H Missense 2/48 - 5
8-133880429-CAG-C c.139_140del p.D47Lfs*32 Frameshift 2/48 - 2
8-133880430-A-AGTCG c.139_140insTCGG p.D47Vfs*34 Frameshift 2/48 - 1
8-133880431-GA-AC c.139_140delinsAC p.D47T Missense 2/48 - 1
8-133880431-GAC-TAA c.139_141delinsTAA p.D47* Nonsense 2/48 - 1
8-133880430-A-AGTCTGCTGTAGCTCTGGG c.139_140insTCTGCTGTAGCTCTGGGG p.A46_D47insVCCSSG InFrameInsertion 2/48 - 1
8-133880430-A-AGGAT c.139_140insGATG p.D47Gfs*2 Frameshift 2/48 - 1
8-133880430-A-AG c.139dup p.D47Gfs*33 Frameshift 2/48 - 1
8-133880431-AGACTACGTGCCCCAGTGTGCAGAGGATGGCAGCTTCCAGTAAGGCTTATGTCAGCAGCG-A c.139_176+21del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 1
8-133880432-A-AG c.140_141insG p.D47Efs*33 Frameshift 2/48 - 1
8-133880432-A-G c.140A>G p.D47G Missense 2/48 - 14
8-133880432-A-T c.140A>T p.D47V Missense 2/48 - 5
8-133880432-A-C c.140A>C p.D47A Missense 2/48 - 5
8-133880432-GA-G c.140del p.D47Afs*59 Frameshift 2/48 - 3
8-133880432-A-AGGCTT c.140_141insGGCTT p.D47Efs*61 Frameshift 2/48 - 1
8-133880429-CAGACTACGTGCCCCAGTGTGCAG-C c.140_162del p.D47Gfs*25 Frameshift 2/48 - 1
8-133880431-G-GA c.140dup p.D47Efs*33 Frameshift 2/48 - 2
8-133880430-AGACTACGT-A c.140_147del p.D47Afs*30 Frameshift 2/48 - 2
8-133880433-C-T c.141C>T p.D47= Synonymous 2/48 - 13
8-133880433-C-G c.141C>G p.D47E Missense 2/48 - 8
8-133880427-AGCAGACTACGTGCCCCAGTGT-A c.141_161del p.D47_A53del InFrameDeletion 2/48 - 1
8-133880433-C-A c.141C>A p.D47E Missense 2/48 - 9
8-133880433-CT-TG c.141_142delinsTG p.Y48D Missense 2/48 - 1
8-133880433-ACTACGTGCCCCAG-A c.141_153del p.Y48Vfs*54 Frameshift 2/48 - 1
8-133880433-AC-A c.141del p.Y48Tfs*58 Frameshift 2/48 - 3
8-133880433-ACTACGTGCCCCAGTGTGCAGAGG-A c.141_163del p.D47Efs*25 Frameshift 2/48 - 1
8-133880432-A-AC c.141dup p.Y48Lfs*32 Frameshift 2/48 - 1
8-133880434-T-TG c.142_143insG p.Y48* Nonsense 2/48 - 2
8-133880431-GACT-G c.142_144del p.Y48del InFrameDeletion 2/48 - 2
8-133880434-T-TTCC c.142_143insTCC p.Y48delinsFH MultiAAMissense 2/48 - 1
8-133880432-ACTACGTGC-A c.142_149del p.Y48Pfs*29 Frameshift 2/48 - 1
8-133880434-T-C c.142T>C p.Y48H Missense 2/48 - 7
8-133880433-C-CT c.142dup p.Y48Lfs*32 Frameshift 2/48 - 2
8-133880433-C-CTT c.142_143insTT p.Y48Ffs*59 Frameshift 2/48 - 1
8-133880434-T-G c.142T>G p.Y48D Missense 2/48 - 5
8-133880434-T-A c.142T>A p.Y48N Missense 2/48 - 1
8-133880434-CT-C c.142del p.Y48Tfs*58 Frameshift 2/48 - 2
8-133880434-CTACGTG-C c.142_147del p.Y48_V49del InFrameDeletion 2/48 - 1
8-133880430-A-AGACTGCTGTAGCTCTGGG c.142_143insGCTGTAGCTCTGGGGACT p.D47_Y48insCCSSGD InFrameInsertion 2/48 - 1
8-133880434-TA-GG c.142_143delinsGG p.Y48G Missense 2/48 - 1
8-133880435-A-AT c.143_144insT p.V49Rfs*31 Frameshift 2/48 - 1
8-133880435-TA-T c.143del p.Y48Sfs*58 Frameshift 2/48 - 3
8-133880435-A-G c.143A>G p.Y48C Missense 2/48 - 11
8-133880435-A-C c.143A>C p.Y48S Missense 2/48 - 5
8-133880435-A-T c.143A>T p.Y48F Missense 2/48 - 3
8-133880435-TACGTGCC-T c.143_149del p.Y48Sfs*56 Frameshift 2/48 - 1
8-133880435-A-AACACAAGGTGG c.143_144insACACAAGGTGG p.Y48* Nonsense 2/48 - 1
8-133880434-T-TA c.143dup p.Y48* Nonsense 2/48 - 1
8-133880436-C-G c.144C>G p.Y48* Nonsense 2/48 - 5
8-133880436-C-T c.144C>T p.Y48= Synonymous 2/48 - 16
8-133880436-C-A c.144C>A p.Y48* Nonsense 2/48 - 8
8-133880434-T-TACA c.144_145insAAC p.Y48_V49insN InFrameInsertion 2/48 - 1
8-133880435-A-ACTGTAGCTCTGGGGGCTG c.144_145insTGTAGCTCTGGGGGCTGC p.Y48_V49insCSSGGC InFrameInsertion 2/48 - 1
8-133880435-A-ACTGTAGCTCTGGCGGCTG c.144_145insTGTAGCTCTGGCGGCTGC p.Y48_V49insCSSGGC InFrameInsertion 2/48 - 1
8-133880435-A-AC c.144dup p.V49Rfs*31 Frameshift 2/48 - 1
8-133880435-ACGTGCC-A c.145_150del p.V49_P50del InFrameDeletion 2/48 - 2
8-133880437-G-C c.145G>C p.V49L Missense 2/48 - 11
8-133880437-G-T c.145G>T p.V49L Missense 2/48 - 13
8-133880437-G-A c.145G>A p.V49M Missense 2/48 - 27
8-133880437-GTG-ATC c.145_147delinsATC p.V49I Missense 2/48 - 10
8-133880437-GT-AA c.145_146delinsAA p.V49K Missense 2/48 - 1
8-133880437-GT-CA c.145_146delinsCA p.V49Q Missense 2/48 - 1
8-133880437-G-GCATAC c.145_146insCATAC p.V49Afs*59 Frameshift 2/48 - 1
8-133880437-G-GAACA c.145_146insAACA p.V49Efs*32 Frameshift 2/48 - 1
8-133880437-GTG-TTT c.145_147delinsTTT p.V49F Missense 2/48 - 4
8-133880436-C-CG c.145dup p.V49Gfs*31 Frameshift 2/48 - 3
8-133880437-GT-TA c.145_146delinsTA p.V49* Nonsense 2/48 - 1
8-133880437-GT-TG c.145_146delinsTG p.V49W Missense 2/48 - 1
8-133880437-G-GAAGACCCACCATCTTACTTCTTTGGCACAATCCATGAAGC c.145_146insAAGACCCACCATCTTACTTCTTTGGCACAATCCATGAAGC p.V49Efs*44 Frameshift 2/48 - 1
8-133880437-GTG-TGT c.145_147delinsTGT p.V49C Missense 2/48 - 2
8-133880438-T-C c.146T>C p.V49A Missense 2/48 - 19
8-133880438-GT-G c.146del p.V49Gfs*57 Frameshift 2/48 - 2
8-133880438-T-A c.146T>A p.V49E Missense 2/48 - 5
8-133880438-T-TC c.146_147insC p.P50Afs*30 Frameshift 2/48 - 1
8-133880438-T-TTG c.146_147insTG p.P50Gfs*57 Frameshift 2/48 - 3
8-133880438-T-G c.146T>G p.V49G Missense 2/48 - 7
8-133880437-G-GTTGAC c.146_147insTGACT p.P50Dfs*58 Frameshift 2/48 - 1
8-133880438-GTGCC-G c.146_149del p.V49Afs*56 Frameshift 2/48 - 1
8-133880436-C-CGTGTGTGCATATGTGCATGTGTGTGT c.147_148insTGTGCATATGTGCATGTGTGTGTGTG p.P50Cfs*65 Frameshift 2/48 - 1
8-133880439-G-GA c.147_148insA p.P50Tfs*30 Frameshift 2/48 - 1
8-133880439-G-C c.147G>C p.V49= Synonymous 2/48 - 7
8-133880439-G-A c.147G>A p.V49= Synonymous 2/48 - 14
8-133880439-G-T c.147G>T p.V49= Synonymous 2/48 - 7
8-133880439-TG-T c.147del p.Q51Sfs*55 Frameshift 2/48 - 2
8-133880439-G-GGGCGGCGGC c.147_148insGGCGGCGGC p.V49_P50insGGG InFrameInsertion 2/48 - 1
8-133880439-TGC-T c.147_148del p.Q51Vfs*28 Frameshift 2/48 - 2
8-133880438-T-TG c.147dup p.P50Afs*30 Frameshift 2/48 - 1
8-133880440-C-G c.148C>G p.P50A Missense 2/48 - 8
8-133880440-C-A c.148C>A p.P50T Missense 2/48 - 10
8-133880440-C-CTG c.148_149insTG p.P50Lfs*57 Frameshift 2/48 - 1
8-133880440-C-T c.148C>T p.P50S Missense 2/48 - 22
8-133880440-CCC-GAG c.148_150delinsGAG p.P50E Missense 2/48 - 2
8-133880440-CC-AT c.148_149delinsAT p.P50I Missense 2/48 - 1
8-133880439-G-GCA c.148_149insAC p.P50Hfs*57 Frameshift 2/48 - 1
8-133880440-CC-GG c.148_149inv p.P50G Missense 2/48 - 3
8-133880440-C-CTTGGATATGGTTCTGGCTTTCGAGGCTTTGGAGGCTTCGGATATGGCTCTGGCTATGGAGGCT c.148_149insTTGGATATGGTTCTGGCTTTCGAGGCTTTGGAGGCTTCGGATATGGCTCTGGCTATGGAGGCT p.P50delinsLGYGSGFRGFGGFGYGSGYGGS MultiAAMissense 2/48 - 1
8-133880440-GCCCCAGT-G c.148_154del p.P50Vfs*54 Frameshift 2/48 - 1
8-133880440-CC-AA c.148_149delinsAA p.P50N Missense 2/48 - 1
8-133880440-CCC-TAA c.148_150delinsTAA p.P50* Nonsense 2/48 - 1
8-133880440-CC-TG c.148_149delinsTG p.P50C Missense 2/48 - 1
8-133880440-CC-GT c.148_149delinsGT p.P50V Missense 2/48 - 1
8-133880440-C-CT c.148_149insT p.P50Lfs*30 Frameshift 2/48 - 1
8-133880441-C-T c.149C>T p.P50L Missense 2/48 - 21
8-133880441-C-A c.149C>A p.P50H Missense 2/48 - 11
8-133880436-CGTGCCCCAGT-C c.149_158del p.P50Qfs*53 Frameshift 2/48 - 1
8-133880441-C-G c.149C>G p.P50R Missense 2/48 - 6
8-133880441-C-CTGGAGGCTT c.149_150insTGGAGGCTT p.P50_Q51insGGF InFrameInsertion 2/48 - 1
8-133880441-C-CACAGTTGCTTGGTA c.149_150insACAGTTGCTTGGTA p.C52Lfs*59 Frameshift 2/48 - 1
8-133880441-CC-AA c.149_150delinsAA p.P50Q Missense 2/48 - 3
8-133880440-C-CCG c.149_150insGC p.Q51Pfs*56 Frameshift 2/48 - 1
8-133880442-C-G c.150C>G p.P50= Synonymous 2/48 - 13
8-133880442-C-T c.150C>T p.P50= Synonymous 2/48 - 18
8-133880440-CCCCAGTGTG-C c.150_158del p.Q51_A53del InFrameDeletion 2/48 - 2
8-133880440-C-CCCGCCG c.150_151insGCCGCC p.P50_Q51insAA InFrameInsertion 2/48 - 1
8-133880442-C-A c.150C>A p.P50= Synonymous 2/48 - 9
8-133880442-CCCA-C c.150_152del p.Q51del InFrameDeletion 2/48 - 1
8-133880442-C-CTGGAT c.150_151insTGGAT p.Q51Wfs*57 Frameshift 2/48 - 1
8-133880439-GCC-G c.150_151del p.Q51Vfs*28 Frameshift 2/48 - 1
8-133880442-C-CG c.150_151insG p.Q51Afs*29 Frameshift 2/48 - 1
8-133880442-C-CATACGAGCCA c.150_151insATACGAGCCA p.Q51Ifs*32 Frameshift 2/48 - 2
8-133880442-C-CGCTGCAGCG c.150_151insGCTGCAGCG p.P50_Q51insAAA InFrameInsertion 2/48 - 1
8-133880441-C-CCT c.150_151insTC p.Q51Sfs*56 Frameshift 2/48 - 1
8-133880439-G-GC c.151dup p.Q51Pfs*29 Frameshift 2/48 - 5
8-133880439-GC-G c.151del p.Q51Sfs*55 Frameshift 2/48 - 6
8-133880443-C-G c.151C>G p.Q51E Missense 2/48 - 5
8-133880443-C-A c.151C>A p.Q51K Missense 2/48 - 11
8-133880443-C-T c.151C>T p.Q51* Nonsense 2/48 - 15
8-133880443-CA-GT c.151_152delinsGT p.Q51V Missense 2/48 - 1
8-133880443-C-CCTATA c.151_152insCTATA p.Q51Pfs*57 Frameshift 2/48 - 1
8-133880443-C-CTG c.151_152insTG p.Q51Lfs*56 Frameshift 2/48 - 1
8-133880443-CCA-C c.151_152del p.Q51Vfs*28 Frameshift 2/48 - 1
8-133880441-CCCAGTGTG-C c.151_158del p.Q51Rfs*26 Frameshift 2/48 - 1
8-133880443-C-CG c.151_152insG p.Q51Rfs*29 Frameshift 2/48 - 1
8-133880443-C-CA c.152dup p.C52Vfs*28 Frameshift 2/48 - 2
8-133880444-A-T c.152A>T p.Q51L Missense 2/48 - 5
8-133880444-A-G c.152A>G p.Q51R Missense 2/48 - 12
8-133880444-CA-C c.152del p.Q51Rfs*55 Frameshift 2/48 - 5
8-133880440-C-CCCCATCCA c.152_153insTCCACCCA p.Q51Hfs*58 Frameshift 2/48 - 1
8-133880444-CAG-C c.152_153del p.Q51Lfs*28 Frameshift 2/48 - 1
8-133880444-A-C c.152A>C p.Q51P Missense 2/48 - 5
8-133880445-G-C c.153G>C p.Q51H Missense 2/48 - 10
8-133880445-G-GC c.153_154insC p.C52Lfs*28 Frameshift 2/48 - 1
8-133880445-G-T c.153G>T p.Q51H Missense 2/48 - 9
8-133880444-A-AGCCGCC c.153_154insCCGCCG p.Q51_C52insPP InFrameInsertion 2/48 - 1
8-133880445-G-A c.153G>A p.Q51= Synonymous 2/48 - 12
8-133880445-G-GGCAGCCTGCCCCGTAGGCT c.153_154insGCAGCCTGCCCCGTAGGCT p.C52Afs*34 Frameshift 2/48 - 1
8-133880444-A-AG c.153dup p.C52Vfs*28 Frameshift 2/48 - 4
8-133880443-CAGTGTGCAGAGG-C c.153_164del p.Q51_D55delinsH MultiAAMissense 2/48 - 1
8-133880444-A-AGCCCCCACCATGAGCGCTGCT c.153_154insCCCCCACCATGAGCGCTGCTG p.Q51_C52insPPP* Frameshift 2/48 - 1
8-133880445-AG-A c.153del p.Q51Hfs*55 Frameshift 2/48 - 1
8-133880445-G-GGT c.153_154insGT p.C52Vfs*55 Frameshift 2/48 - 1
8-133880445-G-GGCAGCCTGCCCCGTAGGCTGCCCC c.153_154insGCAGCCTGCCCCGTAGGCTGCCCC p.Q51_C52insAACPVGCP InFrameInsertion 2/48 - 1
8-133880444-A-AGATCGGAAGAGCACACGTCTGAACTCCAGTCACGCGAGTAAATCTCGTATGCCGTCTT c.153_154insATCGGAAGAGCACACGTCTGAACTCCAGTCACGCGAGTAAATCTCGTATGCCGTCTTG p.C52Ifs*7 Frameshift 2/48 - 1
8-133880446-TG-AC c.154_155delinsAC p.C52T Missense 2/48 - 1
8-133880446-T-C c.154T>C p.C52R Missense 2/48 - 13
8-133880446-T-G c.154T>G p.C52G Missense 2/48 - 4
8-133880446-T-TC c.154_155insC p.C52Sfs*28 Frameshift 2/48 - 1
8-133880446-T-A c.154T>A p.C52S Missense 2/48 - 3
8-133880443-CAGTGTGCAG-C c.154_162del p.C52_E54del InFrameDeletion 2/48 - 1
8-133880446-TG-GC c.154_155delinsGC p.C52A Missense 2/48 - 3
8-133880446-GTGT-G c.154_156del p.C52del InFrameDeletion 2/48 - 2
8-133880446-GT-G c.154del p.C52Vfs*54 Frameshift 2/48 - 3
8-133880445-G-GT c.154dup p.C52Lfs*28 Frameshift 2/48 - 2
8-133880447-G-GC c.155_156insC p.A53Cfs*27 Frameshift 2/48 - 1
8-133880447-TGTGC-T c.155_158del p.C52* Frameshift 2/48 - 2
8-133880447-G-T c.155G>T p.C52F Missense 2/48 - 9
8-133880446-T-TGCGGCG c.155_156insCGGCGG p.C52_A53insGG InFrameInsertion 2/48 - 1
8-133880446-T-TGG c.155_156insGG p.C52Wfs*55 Frameshift 2/48 - 1
8-133880447-G-A c.155G>A p.C52Y Missense 2/48 - 18
8-133880446-T-TGCAA c.155_156insCAAG p.A53Kfs*28 Frameshift 2/48 - 1
8-133880446-T-TG c.155dup p.C52Wfs*28 Frameshift 2/48 - 2
8-133880447-G-GCAA c.155_156insCAA p.C52_A53insN InFrameInsertion 2/48 - 1
8-133880447-G-GCAACAA c.155_156insCAACAA p.C52_A53insNN InFrameInsertion 2/48 - 1
8-133880447-TGTGCAGAGGA-T c.155_164del p.C52Lfs*51 Frameshift 2/48 - 1
8-133880447-G-C c.155G>C p.C52S Missense 2/48 - 2
8-133880447-TG-T c.155del p.C52Lfs*54 Frameshift 2/48 - 1
8-133880447-G-GTTGTGT c.156_157insTGTGTT p.C52_A53insCV InFrameInsertion 2/48 - 1
8-133880448-T-C c.156T>C p.C52= Synonymous 2/48 - 13
8-133880446-T-TGTTGCG c.156_157insTGCGGT p.C52_A53insCG InFrameInsertion 2/48 - 1
8-133880448-GT-G c.156del p.C52Wfs*54 UnclassifiedDeletion 2/48 - 5
8-133880447-G-GTT c.156_157insTT p.A53Lfs*54 Frameshift 2/48 - 1
8-133880447-G-GTTAT c.156_157insTATT p.A53Yfs*28 Frameshift 2/48 - 1
8-133880448-T-A c.156T>A p.C52* Nonsense 2/48 - 7
8-133880448-T-G c.156T>G p.C52W Missense 2/48 - 5
8-133880448-T-TCGAA c.156_157insCGAA p.A53Rfs*28 Frameshift 2/48 - 1
8-133880444-AGT-A c.156_157del p.A53Rfs*26 Frameshift 2/48 - 2
8-133880447-G-GTCCTCTCTGGTA c.156_157insCCTCTCTGGTAT p.C52_A53insPLWY InFrameInsertion 2/48 - 1
8-133880447-G-GT c.156dup p.A53Cfs*27 Frameshift 2/48 - 2
8-133880446-TGTGCAGAGGATGGCA-T c.156_170del p.A53_S57del InFrameDeletion 2/48 - 1
8-133880448-T-TCGCCCCTCAC c.156_157insCGCCCCTCAC p.A53Rfs*30 Frameshift 2/48 - 1
8-133880449-G-A c.157G>A p.A53T Missense 2/48 - 111
8-133880449-G-T c.157G>T p.A53S Missense 2/48 - 14
8-133880449-GCA-CAT c.157_159delinsCAT p.A53H Missense 2/48 - 1
8-133880448-T-TG c.157dup p.A53Gfs*27 Frameshift 2/48 - 3
8-133880449-TG-T c.157del p.A53Qfs*53 Frameshift 2/48 - 4
8-133880449-G-C c.157G>C p.A53P Missense 2/48 - 6
8-133880447-G-GTGATGATGA c.157_158insATGATGATG p.C52_A53insDDD InFrameInsertion 2/48 - 1
8-133880447-G-GTGATGA c.157_158insATGATG p.C52_A53insDD InFrameInsertion 2/48 - 1
8-133880449-GCA-TGT c.157_159delinsTGT p.A53C Missense 2/48 - 2
8-133880449-TGC-T c.157_158del p.A53Rfs*26 Frameshift 2/48 - 1
8-133880449-GC-AG c.157_158delinsAG p.A53R Missense 2/48 - 1
8-133880449-G-GAGTAAAGTCTACTTTTCTACTCTATTAGTCTTCACTTTGGAAAGTGTCCTTCACTTT c.157_158insAGTAAAGTCTACTTTTCTACTCTATTAGTCTTCACTTTGGAAAGTGTCCTTCACTTT p.A53delinsE* Frameshift 2/48 - 2
8-133880449-GC-AA c.157_158delinsAA p.A53K Missense 2/48 - 2
8-133880449-GC-AT c.157_158delinsAT p.A53I Missense 2/48 - 1
8-133880448-T-TGAGCCTGACTGCGGG c.157_158insAGCCTGACTGCGGGG p.C52_A53insEPDCG InFrameInsertion 2/48 - 1
8-133880447-G-GTGATGATGAGGA c.157_158insATGATGAGGATG p.C52_A53insDDED InFrameInsertion 2/48 - 1
8-133880449-GCA-TTT c.157_159delinsTTT p.A53F Missense 2/48 - 1
8-133880450-C-T c.158C>T p.A53V Missense 2/48 - 26
8-133880450-C-CTGTGGGGGCTGTGGCTCCGGCTGTGG c.158_159insTGTGGGGGCTGTGGCTCCGGCTGTGG p.E54Vfs*61 Frameshift 2/48 - 1
8-133880450-GCAGAGGATGGCAGCTTCCAGTAAGGCTTATGTCAGCAGCGAACTCTCAAGGTCCAAGAT-G c.158_176+40del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 1
8-133880450-C-CCGG c.158_159insCGG p.A53_E54insG InFrameInsertion 2/48 - 1
8-133880448-TGCA-T c.158_160del p.A53del InFrameDeletion 2/48 - 3
8-133880450-CA-AC c.158_159delinsAC p.A53D Missense 2/48 - 3
8-133880450-C-A c.158C>A p.A53E Missense 2/48 - 11
8-133880449-G-GC c.158dup p.E54Rfs*26 Frameshift 2/48 - 2
8-133880450-GC-G c.158del p.A53Efs*53 Frameshift 2/48 - 2
8-133880450-GCA-G c.158_159del p.A53Gfs*26 Frameshift 2/48 - 1
8-133880450-C-G c.158C>G p.A53G Missense 2/48 - 7
8-133880448-TGCAGA-T c.158_162del p.A53Gfs*25 Frameshift 2/48 - 1
8-133880447-G-GTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCTGGCTAGCACGGTGAAACCCCATCTCTACTAAAAATACAACAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCTGAACA c.158_159insCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCTGGCTAGCACGGTGAAACCCCATCTCTACTAAAAATACAACAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCTGAACATGC p.E54Gfs*8 Frameshift 2/48 - 1
8-133880451-A-AATG c.159_160insATG p.A53_E54insM InFrameInsertion 2/48 - 1
8-133880451-A-G c.159A>G p.A53= Synonymous 2/48 - 18
8-133880451-A-AC c.159_160insC p.E54Rfs*26 Frameshift 2/48 - 1
8-133880451-A-C c.159A>C p.A53= Synonymous 2/48 - 12
8-133880451-A-T c.159A>T p.A53= Synonymous 2/48 - 13
8-133880451-A-AT c.159_160insT p.E54* Nonsense 2/48 - 1
8-133880451-CA-C c.159del p.E54Rfs*52 Frameshift 2/48 - 3
8-133880451-A-ATGCTTG c.159_160insTGCTTG p.A53_E54insCL InFrameInsertion 2/48 - 1
8-133880450-C-CA c.159dup p.E54Rfs*26 Frameshift 2/48 - 2
8-133880451-A-ACACC c.159_160insCACC p.E54Hfs*27 Frameshift 2/48 - 1
8-133880452-G-A c.160G>A p.E54K Missense 2/48 - 27
8-133880452-AGAGGATGGCAGCTTCC-A c.160_175del p.E54Rfs*47 SpliceDonorDeletion 2/48 - 1
8-133880452-G-T c.160G>T p.E54* Nonsense 2/48 - 9
8-133880452-AG-A c.160del p.E54Rfs*52 Frameshift 2/48 - 2
8-133880452-GAG-TAT c.160_162delinsTAT p.E54Y Missense 2/48 - 1
8-133880452-G-C c.160G>C p.E54Q Missense 2/48 - 10
8-133880452-AGAGGATGG-A c.160_167del p.E54Qfs*23 Frameshift 2/48 - 1
8-133880452-AGAGGATGGCAGCTTCCAGTAAGGCTTATGTCAGCAGCGAACTCTCAAGGTCCAAGATGC-A c.160_176+42del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 1
8-133880451-A-AG c.160dup p.E54Gfs*26 Frameshift 2/48 - 2
8-133880453-A-AT c.161_162insT p.E54Dfs*26 Frameshift 2/48 - 1
8-133880453-A-G c.161A>G p.E54G Missense 2/48 - 14
8-133880453-A-C c.161A>C p.E54A Missense 2/48 - 5
8-133880453-A-T c.161A>T p.E54V Missense 2/48 - 5
8-133880452-G-GAT c.161_162insTA p.E54Dfs*53 Frameshift 2/48 - 1
8-133880452-G-GA c.161dup p.D55Gfs*25 Frameshift 2/48 - 4
8-133880450-CAG-C c.161_162del p.E54Gfs*25 Frameshift 2/48 - 2
8-133880453-GA-G c.161del p.E54Gfs*52 Frameshift 2/48 - 2
8-133880453-GAGGA-G c.161_164del p.E54Vfs*51 Frameshift 2/48 - 1
8-133880454-G-GTTC c.162_163insTTC p.E54_D55insF InFrameInsertion 2/48 - 1
8-133880454-AGGATGGCAGCT-A c.162_172del p.E54Dfs*22 Frameshift 2/48 - 1
8-133880454-G-C c.162G>C p.E54D Missense 2/48 - 17
8-133880454-G-T c.162G>T p.E54D Missense 2/48 - 14
8-133880454-G-A c.162G>A p.E54= Synonymous 2/48 - 12
8-133880451-AGAG-A c.162_164del p.E54del InFrameDeletion 2/48 - 2
8-133880454-G-GT c.162_163insT p.D55* Nonsense 2/48 - 1
8-133880455-G-GTT c.163_164insTT p.D55Vfs*52 Frameshift 2/48 - 1
8-133880455-GA-TT c.163_164delinsTT p.D55F Missense 2/48 - 1
8-133880455-GGA-G c.163_164del p.D55Wfs*24 Frameshift 2/48 - 1
8-133880453-AG-A c.163del p.D55Mfs*51 Frameshift 2/48 - 8
8-133880455-G-A c.163G>A p.D55N Missense 2/48 - 15
8-133880455-G-T c.163G>T p.D55Y Missense 2/48 - 5
8-133880455-GA-AC c.163_164delinsAC p.D55T Missense 2/48 - 1
8-133880455-GA-TC c.163_164inv p.D55S Missense 2/48 - 1
8-133880455-G-C c.163G>C p.D55H Missense 2/48 - 6
8-133880453-A-AG c.163dup p.D55Gfs*25 Frameshift 2/48 - 2
8-133880455-G-GT c.163_164insT p.D55Vfs*25 Frameshift 2/48 - 1
8-133880456-GA-G c.164del p.D55Vfs*51 Frameshift 2/48 - 3
8-133880456-A-G c.164A>G p.D55G Missense 2/48 - 14
8-133880456-A-T c.164A>T p.D55V Missense 2/48 - 9
8-133880456-A-C c.164A>C p.D55A Missense 2/48 - 5
8-133880455-G-GACAACAAC c.164_165insCAACAACA p.G56Nfs*53 Frameshift 2/48 - 1
8-133880455-G-GA c.164dup p.D55Efs*25 Frameshift 2/48 - 3
8-133880453-AGGAT-A c.164_167del p.D55Afs*50 Frameshift 2/48 - 1
8-133880456-A-AG c.164_165insG p.D55Efs*25 Frameshift 2/48 - 1
8-133880457-T-TAG c.165_166insAG p.G56Rfs*51 Frameshift 2/48 - 1
8-133880457-ATGG-A c.165_167del p.G56del InFrameDeletion 2/48 - 1
8-133880455-GATGGCAGCTTCCAGTAAGGCTTATGTCAGCAGCGAACTCTCAAGGTCCAAGATGCCATA-G c.165_176+47del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 2
8-133880457-T-C c.165T>C p.D55= Synonymous 2/48 - 11
8-133880457-T-A c.165T>A p.D55E Missense 2/48 - 6
8-133880457-T-G c.165T>G p.D55E Missense 2/48 - 9
8-133880457-T-TCTA c.165_166insCTA p.D55_G56insL InFrameInsertion 2/48 - 1
8-133880457-T-TAAC c.165_166insAAC p.D55_G56insN InFrameInsertion 2/48 - 1
8-133880457-AT-A c.165del p.D55Efs*51 Frameshift 2/48 - 1
8-133880457-T-TTAA c.165_166insTAA p.D55_G56ins* Nonsense 2/48 - 1
8-133880456-A-AT c.165dup p.G56Wfs*24 Frameshift 2/48 - 1
8-133880458-G-GT c.166_167insT p.G56Vfs*24 Frameshift 2/48 - 1
8-133880458-G-C c.166G>C p.G56R Missense 2/48 - 15
8-133880458-TGGC-T c.166_168del p.G56del InFrameDeletion 2/48 - 4
8-133880458-G-A c.166G>A p.G56S Missense 2/48 - 22
8-133880458-G-T c.166G>T p.G56C Missense 2/48 - 10
8-133880457-T-TGA c.166_167insAG p.G56Efs*51 Frameshift 2/48 - 1
8-133880458-GGC-TGG c.166_168delinsTGG p.G56W Missense 2/48 - 1
8-133880456-ATGGCAGC-A c.166_172del p.G56Sfs*48 Frameshift 2/48 - 1
8-133880459-G-T c.167G>T p.G56V Missense 2/48 - 8
8-133880457-TG-T c.167del p.G56Afs*50 Frameshift 2/48 - 5
8-133880459-G-GA c.167_168insA p.S57Qfs*23 Frameshift 2/48 - 1
8-133880459-G-A c.167G>A p.G56D Missense 2/48 - 14
8-133880459-GC-AG c.167_168delinsAG p.G56E Missense 2/48 - 3
8-133880459-G-C c.167G>C p.G56A Missense 2/48 - 3
8-133880457-T-TG c.167dup p.S57Qfs*23 Frameshift 2/48 - 1
8-133880460-C-G c.168C>G p.G56= Synonymous 2/48 - 7
8-133880460-C-T c.168C>T p.G56= Synonymous 2/48 - 11
8-133880460-C-CTT c.168_169insTT p.S57Lfs*50 Frameshift 2/48 - 1
8-133880460-C-A c.168C>A p.G56= Synonymous 2/48 - 7
8-133880460-C-CT c.168_169insT p.S57* Nonsense 2/48 - 4
8-133880459-G-GC c.168dup p.S57Qfs*23 Frameshift 2/48 - 3
8-133880459-G-GCT c.168_169insTC p.F58Afs*49 Frameshift 2/48 - 1
8-133880460-GC-G c.168del p.S57Afs*49 Frameshift 2/48 - 2
8-133880460-GCAGCTTCCAGTAAGGCTTATGTCAGCAGCGAACTCTCAAGGTCCAAGATGCCATAAAAA-G c.168_176+50del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 1
8-133880460-GCA-G c.168_169del p.S57Lfs*22 Frameshift 2/48 - 1
8-133880460-CA-AG c.168_169delinsAG p.S57G Missense 2/48 - 1
8-133880461-A-G c.169A>G p.S57G Missense 2/48 - 16
8-133880460-C-CA c.169dup p.S57Kfs*23 Frameshift 2/48 - 1
8-133880461-CA-C c.169del p.S57Afs*49 Frameshift 2/48 - 4
8-133880461-CAGCTTCCAGTAAGGCTTATGTCAGCAGCGAACTCTCAAGGTCCAAGATGCCATAAAAAG-C c.169_176+51del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 1
8-133880461-A-C c.169A>C p.S57R Missense 2/48 - 9
8-133880461-AG-TT c.169_170delinsTT p.S57F Missense 2/48 - 7
8-133880461-AG-GC c.169_170delinsGC p.S57A Missense 2/48 - 6
8-133880461-A-T c.169A>T p.S57C Missense 2/48 - 5
8-133880461-AG-CT c.169_170inv p.S57L Missense 2/48 - 4
8-133880461-AG-TA c.169_170delinsTA p.S57Y Missense 2/48 - 3
8-133880461-AG-CC c.169_170delinsCC p.S57P Missense 2/48 - 3
8-133880461-AG-GA c.169_170delinsGA p.S57D Missense 2/48 - 1
8-133880461-AGC-TGA c.169_171delinsTGA p.S57* Nonsense 2/48 - 1
8-133880461-AGC-GAG c.169_171delinsGAG p.S57E Missense 2/48 - 1
8-133880461-A-ATGTGAGGTG c.169_170insTGTGAGGTG p.S57delinsM* Frameshift 2/48 - 1
8-133880462-G-T c.170G>T p.S57I Missense 2/48 - 4
8-133880462-G-C c.170G>C p.S57T Missense 2/48 - 6
8-133880462-G-A c.170G>A p.S57N Missense 2/48 - 15
8-133880462-GC-AG c.170_171delinsAG p.S57K Missense 2/48 - 1
8-133880462-G-GAAAAAAAA c.170_171insAAAAAAAA p.S57Rfs*52 Frameshift 2/48 - 1
8-133880462-G-GGCAGCA c.170_171insGCAGCA p.S57delinsRQH MultiAAMissense 2/48 - 1
8-133880462-G-GGCAGCAGCAGCAGCAGCA c.170_171insGCAGCAGCAGCAGCAGCA p.S57delinsRQQQQQH MultiAAMissense 2/48 - 1
8-133880462-G-GGCAGCAGCA c.170_171insGCAGCAGCA p.S57delinsRQQH MultiAAMissense 2/48 - 1
8-133880462-G-GGCAGCAGCAGCAGCA c.170_171insGCAGCAGCAGCAGCA p.S57delinsRQQQQH MultiAAMissense 2/48 - 1
8-133880462-G-GATAAAATAAAATAAA c.170_171insATAAAATAAAATAAA p.S57delinsR* Frameshift 2/48 - 1
8-133880461-A-AG c.170dup p.S57Rfs*23 Frameshift 2/48 - 1
8-133880463-C-T c.171C>T p.S57= Synonymous 2/48 - 17
8-133880463-C-G c.171C>G p.S57R Missense 2/48 - 8
8-133880463-C-A c.171C>A p.S57R Missense 2/48 - 10
8-133880462-G-GC c.171dup p.F58Lfs*22 Frameshift 2/48 - 2
8-133880462-G-GCACCACTC c.171_172insACCACTCC p.F58Tfs*51 Frameshift 2/48 - 1
8-133880462-G-GCAATCC c.171_172insAATCCC p.S57_F58insNP InFrameInsertion 2/48 - 1
8-133880463-GCT-G c.171_172del p.F58Pfs*21 Frameshift 2/48 - 1
8-133880463-GCTTCCAGTAAGGCTTATGTCAGCAGCGAACTCTCAAGGTCCAAGATGCCATAAAAAGCA-G c.171_176+53del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 2
8-133880463-GCTTCCA-G c.171_176del p.S57_Q59delinsR SpliceDonorDeletion 2/48 - 1
8-133880463-C-CG c.171_172insG p.F58Vfs*22 Frameshift 2/48 - 1
8-133880462-G-GCACCTTGTCTTCCACCC c.171_172insACCTTGTCTTCCACCCC p.F58Tfs*54 Frameshift 2/48 - 1
8-133880463-GC-G c.171del p.F58Sfs*48 Frameshift 2/48 - 1
8-133880464-CTTCCAGTAAGGCTTATGTCAGCAGCGAACTCTCAAGGTCCAAGATGCCATAAAAAGCAT-C c.172_176+54del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 3
8-133880464-T-C c.172T>C p.F58L Missense 2/48 - 14
8-133880463-C-CTCA c.172_173insCAT p.S57dup InFrameInsertion 2/48 - 1
8-133880464-T-A c.172T>A p.F58I Missense 2/48 - 4
8-133880464-T-G c.172T>G p.F58V Missense 2/48 - 7
8-133880464-T-TC c.172_173insC p.F58Sfs*22 Frameshift 2/48 - 1
8-133880466-C-G c.174C>G p.F58L Missense 2/48 - 10
8-133880464-T-TGACCCCTC c.172_173insGACCCCTC p.F58* Nonsense 2/48 - 1
8-133880464-T-TGAAGACCCCTC c.172_173insGAAGACCCCTC p.F58* Nonsense 2/48 - 2
8-133880464-T-TCCCCTC c.172_173insCCCCTC p.F58delinsSPL MultiAAMissense 2/48 - 1
8-133880463-C-CTCAGAAGAAG c.172_173insCAGAAGAAGT p.F58Sfs*25 Frameshift 2/48 - 1
8-133880464-TT-AA c.172_173inv p.F58N Missense 2/48 - 1
8-133880462-GCTT-G c.172_174del p.F58del InFrameDeletion 2/48 - 1
8-133880464-T-TCAC c.172_173insCAC p.F58delinsSL MultiAAMissense 2/48 - 1
8-133880462-GCTTC-G c.172_175del p.F58Rfs*47 SpliceDonorDeletion 2/48 - 1
8-133880463-C-CTGCTGACAAGTACATGGAG c.172_173insGCTGACAAGTACATGGAGT p.F58Cfs*2 Frameshift 2/48 - 1
8-133880463-CT-C c.173del p.F58Sfs*48 Frameshift 2/48 - 5
8-133880465-T-C c.173T>C p.F58S Missense 2/48 - 10
8-133880465-T-TA c.173_174insA p.F58Lfs*22 Frameshift 2/48 - 1
8-133880463-C-CT c.173dup p.Q59Pfs*21 Frameshift 2/48 - 4
8-133880465-T-TTAGCGGTTGGA c.173_174insTAGCGGTTGGA p.Q59Sfs*51 Frameshift 2/48 - 1
8-133880465-TTC-T c.173_174del p.F58Sfs*21 Frameshift 2/48 - 1
8-133880465-TTCCAGTAAGGCTTATGTCAGCAGCGAACTCTCAAGGTCCAAGATGCCATAAAAAGCATC-T c.174_176+56del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 2
8-133880465-T-A c.173T>A p.F58Y Missense 2/48 - 2
8-133880465-T-G c.173T>G p.F58C Missense 2/48 - 4
8-133880466-C-T c.174C>T p.F58= Synonymous 2/48 - 18
8-133880465-T-TCGA c.174_175insGAC p.F58_Q59insD SpliceDonorInsertion 2/48 - 1
8-133880466-C-CT c.174_175insT p.Q59Sfs*21 SpliceDonorInsertion 2/48 - 2
8-133880466-C-A c.174C>A p.F58L Missense 2/48 - 6
8-133880466-C-CA c.174_175insA p.Q59Tfs*21 SpliceDonorInsertion 2/48 - 2
8-133880466-C-CG c.174_175insG p.Q59Afs*21 SpliceDonorInsertion 2/48 - 2
8-133880465-T-TCAAAAAACAAAAAA c.174_175insAAAAAACAAAAAAC p.Q59Kfs*52 SpliceDonorInsertion 2/48 - 1
8-133880466-C-CACCCCTCAG c.174_175insACCCCTCAG p.F58_Q59insTPQ SpliceDonorInsertion 2/48 - 1
8-133880464-TTCCAGTAAGGCTTATGTCAGCAGCGAACTCTCAAGGTCCAAGATGCCATAAAAAGCATC-T c.174_176+56del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 1
8-133880466-C-CAAGACCCCTCAG c.174_175insAAGACCCCTCAG p.F58_Q59insKTPQ SpliceDonorInsertion 2/48 - 1
8-133880466-C-CGTGG c.174_175insGTGG p.Q59Vfs*22 SpliceDonorInsertion 2/48 - 1
8-133880467-CA-GC c.175_176delinsGC p.Q59A Missense 2/48 - 2
8-133880465-T-TC c.175dup p.Q59Pfs*21 SpliceDonorInsertion 2/48 - 6
8-133880465-T-TCCGCCG c.175_176insGCCGCC p.F58_Q59insRR SpliceDonorInsertion 2/48 - 1
8-133880467-C-G c.175C>G p.Q59E Missense 2/48 - 5
8-133880467-C-T c.175C>T p.Q59* Nonsense 2/48 - 14
8-133880465-TC-T c.175del p.Q59Rfs*47 Frameshift 2/48 - 3
8-133880467-C-A c.175C>A p.Q59K Missense 2/48 - 5
8-133880467-C-CCTCAGAAGAAGACCCCTCAGG c.175_176insCTCAGAAGAAGACCCCTCAGG p.Q59delinsPQKKTPQE SpliceDonorInsertion 2/48 - 1
8-133880467-C-CG c.175_176insG p.Q59Rfs*21 SpliceDonorInsertion 2/48 - 1
8-133880467-C-CATAA c.176_176+1insTAAA p.Q59Hfs*22 SpliceDonorInsertion - - 1
8-133880468-A-T c.176A>T p.Q59L Missense 2/48 - 7
8-133880468-A-C c.176A>C p.Q59P Missense 2/48 - 4
8-133880468-CA-C c.176del p.Q59Rfs*47 Frameshift 2/48 - 4
8-133880468-AGTAAGGCTTATGTCAGCAGCGAACTCTCAAGGTCCAAGATGCCATAAAAAGCATCTTG-TGCT c.176_176+58delinsTGCT - Multi:SpliceDonorBlockSubstitution,SpliceAcceptorBlockSubstitution 2/48 2/47 1
8-133880468-A-G c.176A>G p.Q59R Missense 2/48 - 15
8-133880468-A-AT c.176_176+1insT p.Q59Hfs*21 SpliceDonorInsertion - - 1
8-133880468-A-AACTGCTGG c.176_176+1insACTGCTGG p.T60Lfs*49 SpliceDonorInsertion - - 1
8-133880468-CAGTAAGGCTTATGTCAGCAGCGAACTCTCAAGGTCCAAGATGCCATAAAAAGCATCTTG-C c.176_176+58del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/48 2/47 1
8-133880469-G-A c.176+1G>A - IntronicSNV - 2/47 2
8-133880469-G-T c.176+1G>T - IntronicSNV - 2/47 1
8-133880470-T-A c.176+2T>A - IntronicSNV - 2/47 1
8-133880476-CTT-C c.176+8_176+9del - IntronicDeletion - 2/47 1
8-133880481-T-A c.176+13T>A - IntronicSNV - 2/47 1
8-133880484-G-A c.176+16G>A - IntronicSNV - 2/47 1
8-133880490-A-G c.176+22A>G - IntronicSNV - 2/47 1
8-133880509-G-A c.176+41G>A - IntronicSNV - 2/47 1
8-133880514-A-T c.176+46A>T - IntronicSNV - 2/47 1
8-133880525-T-C c.176+57T>C - IntronicSNV - 2/47 1
8-133880527-T-G c.176+59T>G - IntronicSNV - 2/47 1
8-133880529-C-A c.176+61C>A - IntronicSNV - 2/47 1
8-133880541-T-C c.176+73T>C - IntronicSNV - 2/47 1
8-133880589-CTGTCATTTGGAGG-C c.176+124_176+136del - IntronicDeletion - 2/47 1
8-133880709-C-T c.176+241C>T - IntronicSNV - 2/47 1
8-133881149-A-T c.176+681A>T - IntronicSNV - 2/47 1
8-133881240-A-AC c.177-732dup - IntronicInsertion - 2/47 1
8-133881244-C-T c.177-730C>T - IntronicSNV - 2/47 1
8-133881471-C-T c.177-503C>T - IntronicSNV - 2/47 1
8-133881861-ACGAAC-A c.177-111_177-107del - IntronicDeletion - 2/47 1
8-133881873-CTTG-C c.177-101_177-99del - IntronicDeletion - 2/47 1
8-133881974-G-A c.177G>A p.Q59= Synonymous 3/48 - 18
8-133881974-G-C c.177G>C p.Q59H Missense 3/48 - 7
8-133881974-G-T c.177G>T p.Q59H Missense 3/48 - 15
8-133881974-GGA-G c.177_178del p.Q59Hfs*20 SpliceAcceptorDeletion 3/48 - 2
8-133881974-G-GCT c.177_178insCT p.T60Lfs*47 SpliceAcceptorInsertion 3/48 - 1
8-133881972-AG-A c.177del p.T60Lfs*46 Frameshift 3/48 - 2
8-133881974-G-GC c.177_178insC p.T60Hfs*20 SpliceAcceptorInsertion 3/48 - 5
8-133881974-G-GT c.177_178insT p.T60Yfs*20 SpliceAcceptorInsertion 3/48 - 5
8-133881972-A-AG c.177dup p.T60Dfs*20 SpliceAcceptorInsertion 3/48 - 5
8-133881974-GGACTGTCC-G c.177_184del p.T60Vfs*17 SpliceAcceptorDeletion 3/48 - 1
8-133881975-A-G c.178A>G p.T60A Missense 3/48 - 22
8-133881975-AC-TG c.178_179delinsTG p.T60C Missense 3/48 - 3
8-133881975-AC-TT c.178_179delinsTT p.T60F Missense 3/48 - 1
8-133881975-A-AGCCGCCGTG c.178_179insGCCGCCGTG p.T60delinsSRRA SpliceAcceptorInsertion 3/48 - 1
8-133881975-GACT-G c.178_180del p.T60del SpliceAcceptorDeletion 3/48 - 1
8-133881975-A-AGCTGCTGCT c.178_179insGCTGCTGCT p.T60delinsSCCS SpliceAcceptorInsertion 3/48 - 1
8-133881975-A-ATT c.178_179insTT p.T60Ifs*47 SpliceAcceptorInsertion 3/48 - 1
8-133881975-GA-G c.178del p.T60Lfs*46 Frameshift 3/48 - 4
8-133881975-AC-GT c.178_179inv p.T60V Missense 3/48 - 3
8-133881975-AC-GG c.178_179delinsGG p.T60G Missense 3/48 - 1
8-133881975-A-C c.178A>C p.T60P Missense 3/48 - 3
8-133881975-A-T c.178A>T p.T60S Missense 3/48 - 3
8-133881974-G-GA c.178dup p.T60Nfs*20 SpliceAcceptorInsertion 3/48 - 7
8-133881975-GAC-G c.178_179del p.T60Cfs*19 SpliceAcceptorDeletion 3/48 - 1
8-133881975-A-AATG c.178_179insATG p.T60delinsNA SpliceAcceptorInsertion 3/48 - 1
8-133881975-ACT-TAA c.178_180delinsTAA p.T60* Nonsense 3/48 - 1
8-133881975-ACT-GAG c.178_180delinsGAG p.T60E Missense 3/48 - 2
8-133881975-AC-GA c.178_179delinsGA p.T60D Missense 3/48 - 1
8-133881975-AC-CT c.178_179delinsCT p.T60L Missense 3/48 - 1
8-133881975-A-AT c.178_179insT p.T60Ifs*20 SpliceAcceptorInsertion 3/48 - 1
8-133881974-G-GAT c.178_179insTA p.T60Ifs*47 SpliceAcceptorInsertion 3/48 - 1
8-133881976-CT-TG c.179_180delinsTG p.T60M Missense 3/48 - 6
8-133881976-C-T c.179C>T p.T60I Missense 3/48 - 18
8-133881974-G-GACCA c.179_180insCAAC p.V61Nfs*20 SpliceAcceptorInsertion 3/48 - 1
8-133881976-AC-A c.179del p.T60Mfs*46 Frameshift 3/48 - 5
8-133881976-C-A c.179C>A p.T60N Missense 3/48 - 7
8-133881975-A-AC c.179dup p.V61Cfs*19 SpliceAcceptorInsertion 3/48 - 3
8-133881976-CT-AG c.179_180inv p.T60K Missense 3/48 - 5
8-133881976-C-CACA c.179_180insACA p.T60_V61insH InFrameInsertion 3/48 - 1
8-133881976-C-G c.179C>G p.T60S Missense 3/48 - 3
8-133881976-CT-GG c.179_180delinsGG p.T60R Missense 3/48 - 2
8-133881976-C-CTACTATTAT c.180_181insACTATTATT p.T60_V61insTII InFrameInsertion 3/48 - 1
8-133881977-T-C c.180T>C p.T60= Synonymous 3/48 - 17
8-133881976-C-CTTTGTTG c.180_181insTTGTTGT p.V61Lfs*21 Frameshift 3/48 - 1
8-133881975-ACTGTCCAGTGCCAGAACGACGGCCGCT-A c.180_206del p.V61_S69del InFrameDeletion 3/48 - 1
8-133881976-C-CT c.180dup p.V61Cfs*19 Frameshift 3/48 - 3
8-133881977-CT-C c.180del p.V61Sfs*45 Frameshift 3/48 - 4
8-133881977-T-G c.180T>G p.T60= Synonymous 3/48 - 12
8-133881977-T-A c.180T>A p.T60= Synonymous 3/48 - 10
8-133881977-T-TC c.180_181insC p.V61Rfs*19 Frameshift 3/48 - 1
8-133881977-CTGT-C c.180_182del p.V61del InFrameDeletion 3/48 - 1
8-133881977-T-TATGTTTGCA c.180_181insATGTTTGCA p.T60_V61insMFA InFrameInsertion 3/48 - 1
8-133881978-G-A c.181G>A p.V61I Missense 3/48 - 19
8-133881977-T-TG c.181dup p.V61Gfs*19 Frameshift 3/48 - 2
8-133881978-GT-AA c.181_182delinsAA p.V61N Missense 3/48 - 1
8-133881978-G-C c.181G>C p.V61L Missense 3/48 - 11
8-133881978-G-T c.181G>T p.V61F Missense 3/48 - 8
8-133881978-TG-T c.181del p.V61Sfs*45 Frameshift 3/48 - 2
8-133881978-GTC-ATG c.181_183delinsATG p.V61M Missense 3/48 - 5
8-133881978-G-GCCAATATGGCCCTGGAGGCCAA c.181_182insCCAATATGGCCCTGGAGGCCAA p.V61Afs*26 Frameshift 3/48 - 1
8-133881977-T-TGGCC c.181_182insGCCG p.V61Gfs*20 Frameshift 3/48 - 1
8-133881978-GTC-TAA c.181_183delinsTAA p.V61* Nonsense 3/48 - 1
8-133881978-GT-AG c.181_182delinsAG p.V61S Missense 3/48 - 1
8-133881978-GT-AC c.181_182inv p.V61T Missense 3/48 - 1
8-133881978-GTC-AAG c.181_183delinsAAG p.V61K Missense 3/48 - 1
8-133881978-TGTCCAGTGCC-T c.181_190del p.V61Rfs*42 Frameshift 3/48 - 1
8-133881978-GTC-TGG c.181_183delinsTGG p.V61W Missense 3/48 - 1
8-133881977-T-TGA c.181_182insAG p.V61Efs*46 Frameshift 3/48 - 1
8-133881976-CTG-C c.181_182del p.V61Pfs*18 Frameshift 3/48 - 1
8-133881976-CTGTCCAGTGCCAGAACGACGGCCGCTCCTGCTGGTGTGTGGG-C c.182_223del p.V61_G74del InFrameDeletion 3/48 - 1
8-133881979-T-C c.182T>C p.V61A Missense 3/48 - 11
8-133881979-T-A c.182T>A p.V61D Missense 3/48 - 4
8-133881979-T-TGCA c.182_183insGCA p.V61_Q62insH InFrameInsertion 3/48 - 1
8-133881979-GT-G c.182del p.V61Afs*45 Frameshift 3/48 - 2
8-133881979-T-G c.182T>G p.V61G Missense 3/48 - 8
8-133881979-TC-AG c.182_183delinsAG p.V61E Missense 3/48 - 2
8-133881979-T-TTAGGCTGCGTTGGAAGCAGTCGATC c.182_183insTAGGCTGCGTTGGAAGCAGTCGATC p.Q62Rfs*26 Frameshift 3/48 - 1
8-133881978-G-GT c.182dup p.Q62Pfs*18 Frameshift 3/48 - 1
8-133881980-C-G c.183C>G p.V61= Synonymous 3/48 - 10
8-133881980-C-T c.183C>T p.V61= Synonymous 3/48 - 18
8-133881980-C-A c.183C>A p.V61= Synonymous 3/48 - 12
8-133881980-C-CTCCTTCTG c.183_184insTCCTTCTG p.Q62Sfs*47 Frameshift 3/48 - 1
8-133881980-C-CTGGG c.183_184insTGGG p.Q62Wfs*19 Frameshift 3/48 - 1
8-133881980-C-CTGATATA c.183_184insTGATATA p.Q62* Nonsense 3/48 - 2
8-133881980-TCCAGTGCCAGAACGACGGCCGCTCCTGCTGGTG-T c.183_215del p.Q62_C72del InFrameDeletion 3/48 - 1
8-133881980-TCCAGTGCCAGAACGACGGCCGCTCC-T c.183_207del p.Q62Afs*36 Frameshift 3/48 - 1
8-133881979-TC-T c.184del p.Q62Sfs*44 Frameshift 3/48 - 4
8-133881981-C-T c.184C>T p.Q62* Nonsense 3/48 - 23
8-133881981-C-A c.184C>A p.Q62K Missense 3/48 - 7
8-133881979-T-TC c.184dup p.Q62Pfs*18 Frameshift 3/48 - 7
8-133881981-CA-GC c.184_185delinsGC p.Q62A Missense 3/48 - 3
8-133881982-AG-TTCTT c.185_186delinsTTCTT p.Q62delinsLL MultiAAMissense 3/48 - 1
8-133881979-TCCAGTGC-T c.184_190del p.Q62Rfs*42 Frameshift 3/48 - 1
8-133881981-C-G c.184C>G p.Q62E Missense 3/48 - 2
8-133881981-CA-GT c.184_185delinsGT p.Q62V Missense 3/48 - 1
8-133881981-CA-GG c.184_185delinsGG p.Q62G Missense 3/48 - 2
8-133881980-C-CCT c.184_185insTC p.Q62Lfs*45 Frameshift 3/48 - 1
8-133881982-A-AAT c.185_186insAT p.Q64Afs*43 Frameshift 3/48 - 1
8-133881982-A-G c.185A>G p.Q62R Missense 3/48 - 12
8-133881982-A-ACTC c.185_186insCTC p.Q62delinsHS MultiAAMissense 3/48 - 1
8-133881982-CAGT-C c.185_187del p.Q62_C63delinsR MultiAAMissense 3/48 - 1
8-133881982-CAGTGCCAGAACGACG-C c.185_199del p.Q62_G67delinsR MultiAAMissense 3/48 - 1
8-133881982-A-T c.185A>T p.Q62L Missense 3/48 - 8
8-133881982-A-C c.185A>C p.Q62P Missense 3/48 - 4
8-133881982-CA-C c.185del p.Q62Rfs*44 Frameshift 3/48 - 2
8-133881982-CAG-C c.185_186del p.Q62Lfs*17 Frameshift 3/48 - 1
8-133881982-A-ACTT c.185_186insCTT p.Q62delinsHL MultiAAMissense 3/48 - 1
8-133881981-C-CA c.185dup p.C63Vfs*17 Frameshift 3/48 - 1
8-133881982-A-AGG c.186_187insGG p.C63Gfs*44 Frameshift 3/48 - 1
8-133881983-G-A c.186G>A p.Q62= Synonymous 3/48 - 17
8-133881981-C-CAGA c.186_187insAAG p.Q62_C63insK InFrameInsertion 3/48 - 1
8-133881983-G-C c.186G>C p.Q62H Missense 3/48 - 4
8-133881983-G-T c.186G>T p.Q62H Missense 3/48 - 8
8-133881981-C-CAGATAGGAAGAGCACACGTCTGAACTCCAGTCACGGAGAACAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAGCAGCAGAAGCCTCTACAACCTCAGGGGGAACAAAAGCATCT c.186_187insATAGGAAGAGCACACGTCTGAACTCCAGTCACGGAGAACAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAGCAGCAGAAGCCTCTACAACCTCAGGGGGAACAAAAGCATCTAG p.C63Ifs*7 Frameshift 3/48 - 1
8-133881983-G-GAAA c.186_187insAAA p.Q62_C63insK InFrameInsertion 3/48 - 1
8-133881982-A-AGATAAC c.186_187insATAACG p.Q62_C63insIT InFrameInsertion 3/48 - 1
8-133881983-G-GAAAAACGT c.186_187insAAAAACGT p.C63Kfs*46 Frameshift 3/48 - 1
8-133881983-AG-A c.186del p.Q62Hfs*44 Frameshift 3/48 - 1
8-133881982-A-AG c.186dup p.C63Vfs*17 Frameshift 3/48 - 1
8-133881983-G-GGGCT c.186_187insGGCT p.C63Gfs*18 Frameshift 3/48 - 1
8-133881983-G-GT c.187dup p.C63Lfs*17 Frameshift 3/48 - 3
8-133881984-T-C c.187T>C p.C63R Missense 3/48 - 14
8-133881979-TCCAGTG-T c.187_192del p.C63_Q64del InFrameDeletion 3/48 - 1
8-133881984-T-A c.187T>A p.C63S Missense 3/48 - 4
8-133881984-T-G c.187T>G p.C63G Missense 3/48 - 2
8-133881982-AGTGCCAGAACGACGGCCGCTCCTGCTGGTGTGTGGGTGCCAACGGCAGTGAAGTGCTGG-A c.187_245del p.C63Qfs*28 InFrameDeletion 3/48 - 1
8-133881984-TG-GA c.187_188delinsGA p.C63D Missense 3/48 - 1
8-133881982-AGT-A c.187_188del p.C63Pfs*16 Frameshift 3/48 - 2
8-133881984-GT-G c.187del p.C63Afs*43 Frameshift 3/48 - 1
8-133881984-T-TTCTGTCAC c.187_188insTCTGTCAC p.C63Ffs*46 Frameshift 3/48 - 1
8-133881985-G-T c.188G>T p.C63F Missense 3/48 - 10
8-133881985-G-GGATGATGAT c.188_189insGATGATGAT p.C63delinsWMMI MultiAAMissense 3/48 - 1
8-133881985-G-A c.188G>A p.C63Y Missense 3/48 - 25
8-133881985-TG-T c.188del p.C63Sfs*43 Frameshift 3/48 - 1
8-133881985-G-GTATACGA c.188_189insTATACGA p.Q64Ifs*18 Frameshift 3/48 - 1
8-133881985-GC-CT c.188_189delinsCT p.C63S Missense 3/48 - 1
8-133881985-G-C c.188G>C p.C63S Missense 3/48 - 5
8-133881985-G-GGGACCCAA c.188_189insGGACCCAA p.C63Wfs*46 Frameshift 3/48 - 1
8-133881985-G-GGA c.188_189insGA p.C63Wfs*44 Frameshift 3/48 - 1
8-133881985-G-GT c.188_189insT p.Q64Pfs*16 Frameshift 3/48 - 2
8-133881985-TGC-T c.188_189del p.C63Sfs*16 Frameshift 3/48 - 1
8-133881985-G-GA c.188_189insA p.C63* Nonsense 3/48 - 1
8-133881984-T-TG c.188dup p.C63Wfs*17 Frameshift 3/48 - 1
8-133881986-C-A c.189C>A p.C63* Nonsense 3/48 - 6
8-133881986-C-T c.189C>T p.C63= Synonymous 3/48 - 14
8-133881986-CC-TA c.189_190delinsTA p.Q64K Missense 3/48 - 1
8-133881986-C-G c.189C>G p.C63W Missense 3/48 - 4
8-133881986-C-CG c.189_190insG p.Q64Afs*16 Frameshift 3/48 - 1
8-133881986-GCC-G c.189_190del p.C63* Frameshift 3/48 - 1
8-133881987-C-CG c.190_191insG p.Q64Rfs*16 Frameshift 3/48 - 1
8-133881987-C-T c.190C>T p.Q64* Nonsense 3/48 - 17
8-133881987-C-G c.190C>G p.Q64E Missense 3/48 - 7
8-133881985-G-GC c.190dup p.Q64Pfs*16 Frameshift 3/48 - 3
8-133881987-C-A c.190C>A p.Q64K Missense 3/48 - 7
8-133881987-C-CTGGCAA c.190_191insTGGCAA p.Q64delinsLAK MultiAAMissense 3/48 - 1
8-133881987-CCAG-C c.190_192del p.Q64del InFrameDeletion 3/48 - 2
8-133881985-G-GCCGAGGGGAGCCCCGAGCTCCAGCCGCCAC c.190_191insGAGGGGAGCCCCGAGCTCCAGCCGCCACCC p.C63_Q64insRGEPRAPAAT InFrameInsertion 3/48 - 1
8-133881987-CCA-C c.190_191del p.Q64Efs*15 Frameshift 3/48 - 1
8-133881985-GC-G c.190del p.Q64Rfs*42 Frameshift 3/48 - 3
8-133881988-A-T c.191A>T p.Q64L Missense 3/48 - 16
8-133881987-C-CA c.191dup p.N65Efs*15 Frameshift 3/48 - 7
8-133881988-A-G c.191A>G p.Q64R Missense 3/48 - 13
8-133881988-A-C c.191A>C p.Q64P Missense 3/48 - 6
8-133881988-A-AT c.191_192insT p.Q64Hfs*16 Frameshift 3/48 - 1
8-133881988-CAGAACGACGGCCGCTCCTGCTGGTGTGTGGG-C c.191_221del p.Q64Lfs*32 Frameshift 3/48 - 1
8-133881988-CA-C c.191del p.Q64Rfs*42 Frameshift 3/48 - 2
8-133881988-CAGAACGACGG-C c.191_200del p.Q64Pfs*39 Frameshift 3/48 - 1
8-133881989-G-T c.192G>T p.Q64H Missense 3/48 - 11
8-133881989-G-C c.192G>C p.Q64H Missense 3/48 - 8
8-133881989-G-A c.192G>A p.Q64= Synonymous 3/48 - 8
8-133881989-AG-A c.192del p.N65Tfs*41 Frameshift 3/48 - 2
8-133881989-G-GGA c.192_193insGA p.N65Efs*42 Frameshift 3/48 - 1
8-133881987-CAG-C c.192_193del p.N65Rfs*14 Frameshift 3/48 - 1
8-133881987-CAGAACG-C c.192_197del p.Q64_D66delinsH MultiAAMissense 3/48 - 1
8-133881989-G-GT c.192_193insT p.N65* Nonsense 3/48 - 3
8-133881990-A-AGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCGCC c.193_194insGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCGCC p.N65delinsSLRRRRRRRRRH MultiAAMissense 3/48 - 1
8-133881988-A-AGATCGCATTGCTGCTGATGGGCGCGCT c.193_194insTCGCATTGCTGCTGATGGGCGCGCTGA p.Q64_N65insIALLLMGAL InFrameInsertion 3/48 - 1
8-133881988-AGAACGACG-A c.193_200del p.N65Pfs*12 Frameshift 3/48 - 1
8-133881988-AGAACGACGGCCGCTCCTGCTGGTGTGTGGGT-A c.193_223del p.N65Pfs*31 Frameshift 3/48 - 1
8-133881990-A-G c.193A>G p.N65D Missense 3/48 - 12
8-133881990-A-AGT c.193_194insGT p.N65Sfs*42 Frameshift 3/48 - 1
8-133881990-A-C c.193A>C p.N65H Missense 3/48 - 10
8-133881990-A-T c.193A>T p.N65Y Missense 3/48 - 4
8-133881990-GAAC-G c.193_195del p.N65del InFrameDeletion 3/48 - 1
8-133881989-G-GATTTGTTGAGT c.193_194insTTTGTTGAGTA p.N65Ifs*3 Frameshift 3/48 - 1
8-133881990-GAA-G c.193_194del p.N65Rfs*14 Frameshift 3/48 - 1
8-133881988-AGAACGACGGCCGCTCCTGCTGGTGTGTGGGTGCCAACG-A c.193_230del p.N65Qfs*2 Frameshift 3/48 - 1
8-133881990-A-AC c.193_194insC p.N65Tfs*15 Frameshift 3/48 - 1
8-133881991-A-G c.194A>G p.N65S Missense 3/48 - 8
8-133881989-G-GA c.194dup p.N65Kfs*15 Frameshift 3/48 - 3
8-133881989-GA-G c.194del p.N65Tfs*41 Frameshift 3/48 - 4
8-133881991-AC-GG c.194_195delinsGG p.N65R Missense 3/48 - 1
8-133881991-A-C c.194A>C p.N65T Missense 3/48 - 6
8-133881991-AAC-A c.194_195del p.N65Rfs*14 Frameshift 3/48 - 2
8-133881991-A-T c.194A>T p.N65I Missense 3/48 - 4
8-133881991-A-AATTGTTGGCGGC c.194_195insATTGTTGGCGGC p.N65delinsKLLAA MultiAAMissense 3/48 - 1
8-133881991-A-ATCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCGATCGTCTGACCGTCT c.194_195insTCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCGATCGTCTGACCGTCT p.N65_D66insPRRHSHEDQEFRCRSSDRL InFrameInsertion 3/48 - 1
8-133881991-AC-GT c.194_195inv p.N65S Missense 3/48 - 1
8-133881992-C-CCAT c.195_196insCAT p.N65_D66insH InFrameInsertion 3/48 - 1
8-133881992-C-T c.195C>T p.N65= Synonymous 3/48 - 18
8-133881991-A-ACCCC c.195_196insCCCC p.D66Pfs*15 Frameshift 3/48 - 1
8-133881992-C-G c.195C>G p.N65K Missense 3/48 - 9
8-133881992-C-A c.195C>A p.N65K Missense 3/48 - 11
8-133881992-ACGAC-A c.195_198del p.N65Kfs*40 Frameshift 3/48 - 1
8-133881992-C-CAACATGAACATG c.195_196insAACATGAACATG p.N65_D66insNMNM InFrameInsertion 3/48 - 1
8-133881991-A-AC c.195dup p.D66Rfs*14 Frameshift 3/48 - 2
8-133881991-A-ACCTGACCACCTGCTG c.195_196insCTGACCACCTGCTGC p.N65_D66insLTTCC InFrameInsertion 3/48 - 2
8-133881992-AC-A c.195del p.N65Kfs*41 Frameshift 3/48 - 1
8-133881992-C-CT c.195_196insT p.D66* Nonsense 3/48 - 2
8-133881993-G-C c.196G>C p.D66H Missense 3/48 - 6
8-133881993-G-A c.196G>A p.D66N Missense 3/48 - 27
8-133881993-CG-C c.196del p.D66Tfs*40 Frameshift 3/48 - 3
8-133881993-G-GTC c.196_197insTC p.D66Vfs*41 Frameshift 3/48 - 1
8-133881993-GA-TG c.196_197delinsTG p.D66C Missense 3/48 - 2
8-133881992-C-CGT c.196_197insTG p.D66Vfs*41 Frameshift 3/48 - 1
8-133881993-G-T c.196G>T p.D66Y Missense 3/48 - 7
8-133881993-GAC-TAA c.196_198delinsTAA p.D66* Nonsense 3/48 - 1
8-133881993-GA-AG c.196_197delinsAG p.D66S Missense 3/48 - 1
8-133881993-GA-CT c.196_197delinsCT p.D66L Missense 3/48 - 1
8-133881992-C-CGGT c.196_197insGTG p.N65_D66insG InFrameInsertion 3/48 - 1
8-133881992-C-CG c.196dup p.D66Gfs*14 Frameshift 3/48 - 1
8-133881993-GA-TT c.196_197delinsTT p.D66F Missense 3/48 - 1
8-133881994-A-G c.197A>G p.D66G Missense 3/48 - 13
8-133881990-AACG-A c.197_199del p.D66del InFrameDeletion 3/48 - 3
8-133881994-A-C c.197A>C p.D66A Missense 3/48 - 7
8-133881994-GA-G c.197del p.D66Afs*40 Frameshift 3/48 - 2
8-133881994-A-T c.197A>T p.D66V Missense 3/48 - 10
8-133881992-CGACGGCCGCTCCTGCTG-C c.197_213del p.D66Vfs*8 Frameshift 3/48 - 1
8-133881992-C-CGAGAAAGAGGAGGAG c.197_198insGAAAGAGGAGGAGGA p.N65_D66insEKEEE InFrameInsertion 3/48 - 1
8-133881993-G-GA c.197dup p.D66Efs*14 Frameshift 3/48 - 1
8-133881995-C-G c.198C>G p.D66E Missense 3/48 - 6
8-133881995-C-A c.198C>A p.D66E Missense 3/48 - 11
8-133881995-C-CTTT c.198_199insTTT p.D66_G67insF InFrameInsertion 3/48 - 1
8-133881995-C-T c.198C>T p.D66= Synonymous 3/48 - 19
8-133881995-C-CT c.198_199insT p.G67Wfs*13 Frameshift 3/48 - 1
8-133881995-AC-A c.198del p.D66Efs*40 Frameshift 3/48 - 3
8-133881995-ACGGCCGC-A c.198_204del p.G67Pfs*37 Frameshift 3/48 - 1
8-133881994-A-ACCC c.198_199insCCC p.D66_G67insP InFrameInsertion 3/48 - 1
8-133881994-A-AC c.198dup p.G67Rfs*13 Frameshift 3/48 - 1
8-133881995-C-CAA c.198_199insAA p.G67Kfs*40 Frameshift 3/48 - 1
8-133881996-G-A c.199G>A p.G67S Missense 3/48 - 25
8-133881996-G-T c.199G>T p.G67C Missense 3/48 - 5
8-133881996-G-C c.199G>C p.G67R Missense 3/48 - 6
8-133881996-CGGCCGCTCCTGCTGGTGTG-C c.199_217del p.G67Wfs*33 Frameshift 3/48 - 2
8-133881996-GGC-TGA c.199_201delinsTGA p.G67* Nonsense 3/48 - 2
8-133881995-C-CGACAAAGAAG c.199_200insACAAAGAAGG p.G67Dfs*16 Frameshift 3/48 - 1
8-133881996-GGC-TGG c.199_201delinsTGG p.G67W Missense 3/48 - 2
8-133881996-GG-AT c.199_200delinsAT p.G67I Missense 3/48 - 1
8-133881994-ACGG-A c.199_201del p.G67del InFrameDeletion 3/48 - 1
8-133881997-G-GTCCT c.200_201insTCCT p.R68Pfs*13 Frameshift 3/48 - 1
8-133881995-CGGCCGCTCCTGCTGGTGTGTGGGTGCCAACG-C c.200_230del p.G67Afs*29 Frameshift 3/48 - 1
8-133881997-G-A c.200G>A p.G67D Missense 3/48 - 15
8-133881997-GC-AG c.200_201delinsAG p.G67E Missense 3/48 - 4
8-133881997-G-C c.200G>C p.G67A Missense 3/48 - 8
8-133881995-CG-C c.200del p.G67Afs*39 Frameshift 3/48 - 3
8-133881997-G-T c.200G>T p.G67V Missense 3/48 - 5
8-133881995-C-CG c.200dup p.R68Pfs*12 Frameshift 3/48 - 2
8-133881997-G-GATC c.200_201insATC p.G67_R68insS InFrameInsertion 3/48 - 1
8-133881997-GGCCGCTCCTGCTGGTGTGTGGGTGCCAACGGC-G c.200_231del p.G67Efs*2 Frameshift 3/48 - 2
8-133881996-G-GGAGA c.200_201insAGAG p.R68Efs*13 Frameshift 3/48 - 1
8-133881996-G-GGTGGCTATGGCTATGTCTCCCACT c.200_201insTGGCTATGGCTATGTCTCCCACTG p.G67_R68insGYGYVSHC InFrameInsertion 3/48 - 1
8-133881998-C-CA c.201_202insA p.R68Tfs*12 Frameshift 3/48 - 1
8-133881998-C-T c.201C>T p.G67= Synonymous 3/48 - 18
8-133881998-C-G c.201C>G p.G67= Synonymous 3/48 - 7
8-133881998-CCGCTCCTG-TGTGC c.201_209delinsTGTGC p.R68Vfs*37 Frameshift 3/48 - 1
8-133881998-C-A c.201C>A p.G67= Synonymous 3/48 - 9
8-133881998-CC-AG c.201_202delinsAG p.R68G Missense 3/48 - 1
8-133881998-C-CG c.201_202insG p.R68Afs*12 Frameshift 3/48 - 1
8-133881998-CC-TT c.201_202delinsTT p.R68C Missense 3/48 - 1
8-133881998-GCCGCTCCT-G c.201_208del p.R68Lfs*9 Frameshift 3/48 - 1
8-133881999-CG-AC c.202_203delinsAC p.R68T Missense 3/48 - 5
8-133881999-CG-GC c.202_203delinsGC p.R68A Missense 3/48 - 2
8-133881999-C-G c.202C>G p.R68G Missense 3/48 - 12
8-133881999-CGC-AAG c.202_204delinsAAG p.R68K Missense 3/48 - 8
8-133881999-CCGCTCCTGCTGG-C c.202_213del p.R68_W71del InFrameDeletion 3/48 - 1
8-133881999-C-A c.202C>A p.R68S Missense 3/48 - 13
8-133881999-CG-AT c.202_203delinsAT p.R68I Missense 3/48 - 2
8-133881997-GC-G c.202del p.R68Afs*38 Frameshift 3/48 - 5
8-133881999-C-T c.202C>T p.R68C Missense 3/48 - 17
8-133881997-G-GC c.202dup p.R68Pfs*12 Frameshift 3/48 - 2
8-133881999-CGC-GAG c.202_204delinsGAG p.R68E Missense 3/48 - 1
8-133881999-CGC-TGG c.202_204delinsTGG p.R68W Missense 3/48 - 6
8-133881999-CGC-ATG c.202_204delinsATG p.R68M Missense 3/48 - 2
8-133881999-CGC-TGA c.202_204delinsTGA p.R68* Nonsense 3/48 - 8
8-133881999-C-CTG c.202_203insTG p.R68Lfs*39 Frameshift 3/48 - 1
8-133882000-G-GACAGAA c.203_204insACAGAA p.R68_S69insQN InFrameInsertion 3/48 - 1
8-133882000-G-A c.203G>A p.R68H Missense 3/48 - 16
8-133882000-G-T c.203G>T p.R68L Missense 3/48 - 4
8-133882000-CG-C c.203del p.R68Pfs*38 Frameshift 3/48 - 2
8-133882000-GC-AA c.203_204delinsAA p.R68Q Missense 3/48 - 5
8-133881999-C-CG c.203dup p.S69Lfs*11 Frameshift 3/48 - 2
8-133882000-G-C c.203G>C p.R68P Missense 3/48 - 5
8-133882000-G-GTGA c.203_204insTGA p.R68_S69insD InFrameInsertion 3/48 - 1
8-133881999-C-CGG c.203_204insGG p.S69Afs*38 Frameshift 3/48 - 1
8-133882000-G-GTTCCTC c.203_204insTTCCTC p.S69_C70insSS InFrameInsertion 3/48 - 1
8-133882001-GCTCC-G c.204_207del p.S69Afs*36 Frameshift 3/48 - 1
8-133882001-C-G c.204C>G p.R68= Synonymous 3/48 - 12
8-133882000-G-GCGGTGCCGGTGC c.204_205insGGTGCCGGTGCC p.R68_S69insGAGA InFrameInsertion 3/48 - 1
8-133882001-C-T c.204C>T p.R68= Synonymous 3/48 - 19
8-133882001-C-A c.204C>A p.R68= Synonymous 3/48 - 10
8-133882000-G-GCA c.204_205insAC p.S69Tfs*38 Frameshift 3/48 - 1
8-133881999-C-CGCAGCAACAGCAGCAGCAGCA c.204_205insAGCAACAGCAGCAGCAGCAGC p.S69_C70insNSSSSSS InFrameInsertion 3/48 - 1
8-133882001-GCTCCTGCTGGTGTGTGGGTGCCA-G c.204_226del p.S69Rfs*3 Frameshift 3/48 - 1
8-133882001-GC-G c.204del p.S69Pfs*37 Frameshift 3/48 - 3
8-133882001-C-CA c.204_205insA p.S69Ifs*11 Frameshift 3/48 - 2
8-133882000-G-GC c.204dup p.S69Lfs*11 Frameshift 3/48 - 1
8-133882002-TC-AA c.205_206delinsAA p.S69N Missense 3/48 - 5
8-133882002-T-G c.205T>G p.S69A Missense 3/48 - 5
8-133882002-T-C c.205T>C p.S69P Missense 3/48 - 10
8-133882002-T-TGA c.205_206insGA p.S69* Nonsense 3/48 - 1
8-133882001-C-CT c.205dup p.S69Ffs*11 Frameshift 3/48 - 2
8-133882002-TC-CT c.205_206delinsCT p.S69L Missense 3/48 - 6
8-133882002-TC-GG c.205_206delinsGG p.S69G Missense 3/48 - 4
8-133882002-T-A c.205T>A p.S69T Missense 3/48 - 5
8-133882002-TC-AT c.205_206delinsAT p.S69I Missense 3/48 - 2
8-133882000-GCT-G c.205_206del p.S69Lfs*10 Frameshift 3/48 - 2
8-133881999-CGCTCCTGCTGGTGTGTGGGTGCCAACGGCAGTGAAGTGCTGG-C c.205_246del p.C70_S83del InFrameDeletion 3/48 - 1
8-133882002-T-TTTCATTCATTCATTCA c.205_206insTTCATTCATTCATTCA p.S69Ffs*16 Frameshift 3/48 - 1
8-133882001-C-CTAGAACATCAGGTCTGAGAGACACAGG c.205_206insAGAACATCAGGTCTGAGAGACACAGGT p.R68_S69ins* Nonsense 3/48 - 1
8-133882002-CTCCTGCTGGTGTGTGGGTGCCAACGGCAGTGAAGTGCTGGGCAGCAGGCAGCCAGGACG-C c.205_263del p.S69Afs*22 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/48 - 1
8-133882003-C-G c.206C>G p.S69C Missense 3/48 - 8
8-133882003-CC-AA c.206_207delinsAA p.S69* Nonsense 3/48 - 5
8-133882003-C-T c.206C>T p.S69F Missense 3/48 - 20
8-133882003-C-A c.206C>A p.S69Y Missense 3/48 - 6
8-133882003-C-CGACAGACACA c.206_207insGACAGACACA p.C70Tfs*13 Frameshift 3/48 - 1
8-133882000-GCTC-G c.206_208del p.S69del InFrameDeletion 3/48 - 1
8-133882003-CC-GG c.206_207inv p.S69W Missense 3/48 - 1
8-133882001-CTCCTGCTGGTGTG-C c.206_218del p.S69Wfs*33 Frameshift 3/48 - 1
8-133882003-C-CGGGCTGCTGTAGCTCTGGTGGCTGCTGTAGCTCTGG c.206_207insGGGCTGCTGTAGCTCTGGTGGCTGCTGTAGCTCTGG p.S69_C70insGCCSSGGCCSSG InFrameInsertion 3/48 - 1
8-133882004-C-G c.207C>G p.S69= Synonymous 3/48 - 9
8-133882004-CCTGCTGGTGTGT-C c.207_218del p.C70_V73del InFrameDeletion 3/48 - 2
8-133882004-C-T c.207C>T p.S69= Synonymous 3/48 - 20
8-133882004-C-A c.207C>A p.S69= Synonymous 3/48 - 10
8-133882002-TC-T c.207del p.C70Afs*36 Frameshift 3/48 - 3
8-133882002-T-TC c.207dup p.C70Lfs*10 Frameshift 3/48 - 3
8-133882005-T-C c.208T>C p.C70R Missense 3/48 - 5
8-133882005-TG-GA c.208_209delinsGA p.C70D Missense 3/48 - 1
8-133882005-TG-AC c.208_209delinsAC p.C70T Missense 3/48 - 6
8-133882005-T-TAGA c.208_209insAGA p.C70delins* Nonsense 3/48 - 1
8-133882005-T-A c.208T>A p.C70S Missense 3/48 - 5
8-133882005-CT-C c.208del p.C70Afs*36 Frameshift 3/48 - 2
8-133882004-C-CTATGGCTCTGGCTATGGAGGCTATGTA c.208_209insATGGCTCTGGCTATGGAGGCTATGTAT p.S69_C70insYGSGYGGYV InFrameInsertion 3/48 - 1
8-133882005-T-G c.208T>G p.C70G Missense 3/48 - 5
8-133882005-TG-GC c.208_209delinsGC p.C70A Missense 3/48 - 3
8-133882004-C-CTATCGTCTGACCGTCTTCCTAGAAGGCAT c.208_209insATCGTCTGACCGTCTTCCTAGAAGGCATT p.C70Yfs*46 Frameshift 3/48 - 1
8-133882005-TG-CC c.208_209delinsCC p.C70P Missense 3/48 - 1
8-133882005-T-TGTGTGC c.209_210insTGTGCG p.C70_W71insVR InFrameInsertion 3/48 - 1
8-133882006-G-C c.209G>C p.C70S Missense 3/48 - 9
8-133882006-G-T c.209G>T p.C70F Missense 3/48 - 6
8-133882006-G-A c.209G>A p.C70Y Missense 3/48 - 15
8-133882006-TG-T c.209del p.C70Sfs*36 Frameshift 3/48 - 3
8-133882005-T-TGTA c.209_210insTAG p.C70_W71insS InFrameInsertion 3/48 - 1
8-133882005-T-TG c.209dup p.C70Wfs*10 Frameshift 3/48 - 1
8-133882006-G-GGCA c.209_210insGCA p.C70delinsWH MultiAAMissense 3/48 - 1
8-133882006-G-GTTTTAAGGATA c.209_210insTTTTAAGGATA p.W71Ffs*39 Frameshift 3/48 - 1
8-133882004-C-CTGTCATCTTGTCTCCCAG c.209_210insTCATCTTGTCTCCCAGTG p.C70_W71insHLVSQC InFrameInsertion 3/48 - 1
8-133882007-C-T c.210C>T p.C70= Synonymous 3/48 - 19
8-133882007-C-G c.210C>G p.C70W Missense 3/48 - 10
8-133882007-C-A c.210C>A p.C70* Nonsense 3/48 - 7
8-133882004-CTGCTGG-C c.210_215del p.W71_C72del InFrameDeletion 3/48 - 3
8-133882005-TGCTGGTGTGTGG-T c.210_221del p.W71_G74del InFrameDeletion 3/48 - 1
8-133882007-GC-G c.210del p.W71Gfs*35 Frameshift 3/48 - 2
8-133882007-GCT-G c.210_211del p.C70Wfs*9 Frameshift 3/48 - 2
8-133882007-C-CGA c.210_211insGA p.W71Dfs*36 Frameshift 3/48 - 1
8-133882004-CTGCTGGTG-C c.210_217del p.W71Gfs*6 Frameshift 3/48 - 1
8-133882006-G-GC c.210dup p.W71Lfs*9 Frameshift 3/48 - 4
8-133882003-CCTG-C c.210_212del p.C70del InFrameDeletion 3/48 - 1
8-133882007-C-CGTCACACTATTCCGGT c.210_211insGTCACACTATTCCGGT p.W71Vfs*14 Frameshift 3/48 - 1
8-133882008-T-A c.211T>A p.W71R Missense 3/48 - 7
8-133882008-T-C c.211T>C p.W71R Missense 3/48 - 14
8-133882008-CT-C c.211del p.W71Gfs*35 Frameshift 3/48 - 2
8-133882008-T-G c.211T>G p.W71G Missense 3/48 - 4
8-133882009-G-A c.212G>A p.W71* Nonsense 3/48 - 8
8-133882009-G-C c.212G>C p.W71S Missense 3/48 - 6
8-133882009-G-T c.212G>T p.W71L Missense 3/48 - 8
8-133882009-TGGTGTGTGGGTGCCA-T c.212_226del p.W71_N76delinsY MultiAAMissense 3/48 - 1
8-133882008-TG-T c.213del p.W71Cfs*35 Frameshift 3/48 - 8
8-133882010-G-A c.213G>A p.W71* Nonsense 3/48 - 17
8-133882010-G-C c.213G>C p.W71C Missense 3/48 - 7
8-133882010-G-T c.213G>T p.W71C Missense 3/48 - 11
8-133882009-G-GGAAGGAGAAAGA c.213_214insAAGGAGAAAGAG p.W71_C72insKEKE InFrameInsertion 3/48 - 1
8-133882008-TGGTGTGTGGGTGCCAACGGCAGTGAAGTGCTGGGCA-T c.213_248del p.W71_S83delinsC MultiAAMissense 3/48 - 1
8-133882008-T-TG c.213dup p.C72Vfs*8 Frameshift 3/48 - 2
8-133882011-T-G c.214T>G p.C72G Missense 3/48 - 7
8-133882011-T-C c.214T>C p.C72R Missense 3/48 - 8
8-133882011-GTGTGTGGGT-G c.214_222del p.C72_G74del InFrameDeletion 3/48 - 1
8-133882011-TG-GC c.214_215delinsGC p.C72A Missense 3/48 - 3
8-133882011-TG-AC c.214_215delinsAC p.C72T Missense 3/48 - 1
8-133882011-T-TCTCA c.214_215insCTCA p.C72Sfs*9 Frameshift 3/48 - 1
8-133882011-T-A c.214T>A p.C72S Missense 3/48 - 5
8-133882010-G-GTTCCTAGAAGGCATTCTCATGAGGACCAAGAATTCCGATGCCGATCGTCTGACCGTC c.214_215insTCCTAGAAGGCATTCTCATGAGGACCAAGAATTCCGATGCCGATCGTCTGACCGTCT p.W71_C72insFLEGILMRTKNSDADRLTV InFrameInsertion 3/48 - 1
8-133882011-GT-G c.214del p.C72Vfs*34 Frameshift 3/48 - 2
8-133882011-T-TCCCCC c.214_215insCCCCC p.C72Sfs*36 Frameshift 3/48 - 1
8-133882011-GTGTGTGGGTGCCAACGGCAGT-G c.214_234del p.C72_S78del InFrameDeletion 3/48 - 1
8-133882011-TGT-GAG c.214_216delinsGAG p.C72E Missense 3/48 - 3
8-133882011-TG-CA c.214_215inv p.C72H Missense 3/48 - 1
8-133882011-TGT-GCAACA c.214_216delinsGCAACA p.C72delinsAT MultiAAMissense 3/48 - 1
8-133882011-T-TTCACCTCCAC c.214_215insTCACCTCCAC p.C72Ffs*11 Frameshift 3/48 - 1
8-133882010-G-GT c.214dup p.C72Lfs*8 Frameshift 3/48 - 1
8-133882012-G-GA c.215_216insA p.C72* Nonsense 3/48 - 1
8-133882012-G-A c.215G>A p.C72Y Missense 3/48 - 18
8-133882012-G-T c.215G>T p.C72F Missense 3/48 - 6
8-133882012-G-C c.215G>C p.C72S Missense 3/48 - 7
8-133882011-T-TGGAAG c.215_216insGAAGG p.C72Wfs*36 Frameshift 3/48 - 1
8-133882011-T-TG c.215dup p.C72Wfs*8 Frameshift 3/48 - 1
8-133882011-T-TGGGGAGG c.215_216insGGGAGGG p.C72Wfs*10 Frameshift 3/48 - 1
8-133882013-T-A c.216T>A p.C72* Nonsense 3/48 - 6
8-133882013-T-C c.216T>C p.C72= Synonymous 3/48 - 12
8-133882013-T-G c.216T>G p.C72W Missense 3/48 - 5
8-133882008-TGGTGTGTG-T c.216_223del p.V73Qfs*4 Frameshift 3/48 - 1
8-133882013-GT-G c.216del p.C72Wfs*34 Frameshift 3/48 - 1
8-133882012-G-GT c.216dup p.V73Cfs*7 Frameshift 3/48 - 1
8-133882014-G-A c.217G>A p.V73M Missense 3/48 - 26
8-133882014-G-T c.217G>T p.V73L Missense 3/48 - 9
8-133882014-G-GAC c.217_218insAC p.V73Dfs*34 Frameshift 3/48 - 1
8-133882014-GTG-ATC c.217_219delinsATC p.V73I Missense 3/48 - 10
8-133882014-G-C c.217G>C p.V73L Missense 3/48 - 4
8-133882014-TGTGGGTGC-T c.217_224del p.V73Qfs*4 Frameshift 3/48 - 1
8-133882014-TGTGGGTGCCAACGGCAGTGAAG-T c.217_238del p.V73Cfs*26 Frameshift 3/48 - 1
8-133882014-TG-T c.217del p.V73Wfs*33 Frameshift 3/48 - 4
8-133882013-T-TG c.217dup p.V73Gfs*7 Frameshift 3/48 - 2
8-133882014-G-GC c.217_218insC p.V73Afs*7 Frameshift 3/48 - 1
8-133882014-GTG-TTT c.217_219delinsTTT p.V73F Missense 3/48 - 2
8-133882014-GT-TC c.217_218delinsTC p.V73S Missense 3/48 - 1
8-133882014-GTG-CAT c.217_219delinsCAT p.V73H Missense 3/48 - 1
8-133882014-GTG-AAC c.217_219delinsAAC p.V73N Missense 3/48 - 1
8-133882014-G-GCGT c.217_218insCGT p.V73delinsAL MultiAAMissense 3/48 - 1
8-133882014-G-GGGC c.217_218insGGC p.V73delinsGL MultiAAMissense 3/48 - 1
8-133882015-T-TCGTTGCTCACTC c.218_219insCGTTGCTCACTC p.V73_G74insVAHS InFrameInsertion 3/48 - 1
8-133882014-G-GT c.218dup p.A75Cfs*5 Frameshift 3/48 - 1
8-133882015-T-C c.218T>C p.V73A Missense 3/48 - 14
8-133882015-T-TAA c.218_219insAA p.G74Rfs*33 Frameshift 3/48 - 1
8-133882015-T-G c.218T>G p.V73G Missense 3/48 - 5
8-133882013-TGTGGGTGCCAAC-T c.218_229del p.V73_N76del InFrameDeletion 3/48 - 1
8-133882015-T-A c.218T>A p.V73E Missense 3/48 - 3
8-133882015-TG-AC c.218_219delinsAC p.V73D Missense 3/48 - 1
8-133882013-T-TGTATTTCTCATGGAGATATGTGTACACGTATCTCCATGAGAAATACTAAAATACTTAGATTGTCAAGAAAGAAAATTA c.218_219insATTTCTCATGGAGATATGTGTACACGTATCTCCATGAGAAATACTAAAATACTTAGATTGTCAAGAAAGAAAATTAGT p.V73_G74insFLMEICVHVSP* Frameshift 3/48 - 1
8-133882015-T-TA c.218_219insA p.A75Cfs*5 Frameshift 3/48 - 1
8-133882015-GT-G c.218del p.V73Gfs*33 Frameshift 3/48 - 1
8-133882016-G-A c.219G>A p.V73= Synonymous 3/48 - 17
8-133882016-G-T c.219G>T p.V73= Synonymous 3/48 - 10
8-133882016-G-C c.219G>C p.V73= Synonymous 3/48 - 10
8-133882016-TGGGTGCCAA-T c.219_227del p.A75_G77del InFrameDeletion 3/48 - 1
8-133882016-TGGGTGCCAACGGCAG-T c.219_233del p.G74_S78del InFrameDeletion 3/48 - 1
8-133882016-G-GACCACACACCCCACAA c.219_220insACCACACACCCCACAA p.G74Tfs*11 Frameshift 3/48 - 1
8-133882017-G-A c.220G>A p.G74S Missense 3/48 - 21
8-133882017-G-C c.220G>C p.G74R Missense 3/48 - 9
8-133882017-G-T c.220G>T p.G74C Missense 3/48 - 12
8-133882013-TGTGGGTGCCAACGGCA-T c.220_235del p.G74Kfs*27 Frameshift 3/48 - 1
8-133882014-GTGGGTGCCAACGGCAGTGAAGTGCTGGGCAGCAGGCAGCCAGGACGGCCTGTGGCT-G c.220_274+1del - SpliceDonorDeletion 3/48 3/47 1
8-133882017-GGT-TGG c.220_222delinsTGG p.G74W Missense 3/48 - 2
8-133882015-TGG-T c.220_221del p.G74Cfs*5 Frameshift 3/48 - 1
8-133882018-G-GGGAATTCCGATGCCGATCGTCTGACCGTCTTCCTAGAAGGCATTCTCATGAGGACCA c.221_222insGGAATTCCGATGCCGATCGTCTGACCGTCTTCCTAGAAGGCATTCTCATGAGGACCA p.G74_A75insEFRCRSSDRLPRRHSHEDH InFrameInsertion 3/48 - 3
8-133882018-GGTGCCA-G c.221_226del p.G74_N76delinsD MultiAAMissense 3/48 - 1
8-133882018-G-A c.221G>A p.G74D Missense 3/48 - 15
8-133882015-TG-T c.221del p.G74Vfs*32 Frameshift 3/48 - 4
8-133882018-G-T c.221G>T p.G74V Missense 3/48 - 8
8-133882018-G-C c.221G>C p.G74A Missense 3/48 - 7
8-133882018-GT-AG c.221_222delinsAG p.G74E Missense 3/48 - 3
8-133882015-T-TG c.221dup p.A75Cfs*5 Frameshift 3/48 - 1
8-133882018-G-GA c.221_222insA p.A75Cfs*5 Frameshift 3/48 - 1
8-133882019-T-C c.222T>C p.G74= Synonymous 3/48 - 14
8-133882016-GGGTGCCAAC-G c.222_230del p.A75_G77del InFrameDeletion 3/48 - 1
8-133882019-T-A c.222T>A p.G74= Synonymous 3/48 - 9
8-133882019-GT-G c.222del p.A75Pfs*31 Frameshift 3/48 - 6
8-133882019-T-G c.222T>G p.G74= Synonymous 3/48 - 8
8-133882017-GGT-G c.222_223del p.A75Qfs*4 Frameshift 3/48 - 2
8-133882019-GTGC-G c.222_224del p.A75del InFrameDeletion 3/48 - 1
8-133882018-G-GT c.222dup p.A75Cfs*5 Frameshift 3/48 - 1
8-133882019-T-TAAA c.222_223insAAA p.G74_A75insK InFrameInsertion 3/48 - 1
8-133882020-G-GGTGTGTGT c.223_224insGTGTGTGT p.A75Gfs*34 Frameshift 3/48 - 1
8-133882020-G-GTCCGCCGCCGCCGCCGCCGCCGCCGCCGCC c.223_224insTCCGCCGCCGCCGCCGCCGCCGCCGCCGCC p.A75delinsVRRRRRRRRRP MultiAAMissense 3/48 - 1
8-133882020-TG-T c.223del p.A75Pfs*31 Frameshift 3/48 - 3
8-133882020-GC-TT c.223_224delinsTT p.A75F Missense 3/48 - 5
8-133882020-G-C c.223G>C p.A75P Missense 3/48 - 9
8-133882020-G-T c.223G>T p.A75S Missense 3/48 - 10
8-133882020-G-A c.223G>A p.A75T Missense 3/48 - 19
8-133882020-GCC-TAA c.223_225delinsTAA p.A75* Nonsense 3/48 - 5
8-133882020-GCC-AAG c.223_225delinsAAG p.A75K Missense 3/48 - 2
8-133882020-GC-TG c.223_224delinsTG p.A75C Missense 3/48 - 2
8-133882020-TGC-T c.223_224del p.A75Qfs*4 Frameshift 3/48 - 1
8-133882020-GC-CG c.223_224delinsCG p.A75R Missense 3/48 - 1
8-133882020-TGCC-T c.223_225del p.A75del InFrameDeletion 3/48 - 1
8-133882019-T-TG c.223dup p.A75Gfs*5 Frameshift 3/48 - 1
8-133882020-GC-CA c.223_224delinsCA p.A75H Missense 3/48 - 1
8-133882021-C-CAGA c.224_225insAGA p.A75_N76insD InFrameInsertion 3/48 - 1
8-133882021-C-T c.224C>T p.A75V Missense 3/48 - 15
8-133882021-C-CTAAT c.224_225insTAAT p.G77Qfs*4 Frameshift 3/48 - 1
8-133882020-G-GCTAAT c.224_225insTAATC p.G77Pfs*31 Frameshift 3/48 - 1
8-133882021-C-G c.224C>G p.A75G Missense 3/48 - 8
8-133882021-C-A c.224C>A p.A75D Missense 3/48 - 9
8-133882021-CC-AG c.224_225delinsAG p.A75E Missense 3/48 - 8
8-133882017-G-GGTGCTCA c.224_225insTCAGTGC p.N76Qfs*6 Frameshift 3/48 - 1
8-133882022-C-A c.225C>A p.A75= Synonymous 3/48 - 20
8-133882022-C-G c.225C>G p.A75= Synonymous 3/48 - 22
8-133882022-C-T c.225C>T p.A75= Synonymous 3/48 - 23
8-133882021-C-CCCGCCGCCG c.225_226insCGCCGCCGC p.A75_N76insRRR InFrameInsertion 3/48 - 1
8-133882019-T-TGCCGCCGCC c.225_226insGCCGCCGCC p.A75_N76insAAA InFrameInsertion 3/48 - 1
8-133882019-TGCCAACG-T c.225_231del p.N76Vfs*28 Frameshift 3/48 - 2
8-133882022-C-CT c.225_226insT p.N76* Nonsense 3/48 - 1
8-133882020-GC-G c.225del p.N76Tfs*30 Frameshift 3/48 - 4
8-133882022-CCAACG-C c.225_229del p.N76Qfs*2 Frameshift 3/48 - 2
8-133882022-CCA-C c.225_226del p.N76Rfs*3 Frameshift 3/48 - 3
8-133882017-GGTGCCAACGGCAGTGAA-G c.225_241del p.N76Gfs*29 Frameshift 3/48 - 2
8-133882020-G-GC c.225dup p.N76Qfs*4 Frameshift 3/48 - 2
8-133882023-A-G c.226A>G p.N76D Missense 3/48 - 15
8-133882023-A-ATTTTTTT c.226_227insTTTTTTT p.N76Ifs*6 Frameshift 3/48 - 1
8-133882023-A-T c.226A>T p.N76Y Missense 3/48 - 5
8-133882023-A-C c.226A>C p.N76H Missense 3/48 - 5
8-133882023-AA-GC c.226_227delinsGC p.N76A Missense 3/48 - 1
8-133882023-AAC-GAG c.226_228delinsGAG p.N76E Missense 3/48 - 1
8-133882023-A-AC c.226_227insC p.N76Tfs*4 Frameshift 3/48 - 1
8-133882023-CAACGGCA-C c.226_232del p.N76Vfs*28 Frameshift 3/48 - 1
8-133882021-CCAA-C c.226_228del p.N76del InFrameDeletion 3/48 - 1
8-133882023-AA-CC c.226_227delinsCC p.N76P Missense 3/48 - 1
8-133882023-CAA-C c.226_227del p.N76Rfs*3 Frameshift 3/48 - 1
8-133882021-C-CCAGTACTGATATAGTT c.226_227insGTACTGATATAGTTCA p.N76Sfs*9 Frameshift 3/48 - 1
8-133882023-AA-TG c.226_227delinsTG p.N76C Missense 3/48 - 1
8-133882022-C-CA c.227dup p.N76Kfs*4 Frameshift 3/48 - 5
8-133882023-A-AAGTACT c.227_228insGTACTA p.N76delinsKYY MultiAAMissense 3/48 - 1
8-133882024-A-G c.227A>G p.N76S Missense 3/48 - 16
8-133882022-CA-C c.227del p.N76Tfs*30 Frameshift 3/48 - 4
8-133882024-AACGGCAGTGAAGTGC-A c.227_241del p.N76_L81delinsM MultiAAMissense 3/48 - 1
8-133882024-A-T c.227A>T p.N76I Missense 3/48 - 7
8-133882024-AC-TG c.227_228delinsTG p.N76M Missense 3/48 - 1
8-133882024-A-C c.227A>C p.N76T Missense 3/48 - 5
8-133882024-AACGGCAGTGAAGTG-A c.227_240del p.N76Tfs*30 Frameshift 3/48 - 1
8-133882025-C-G c.228C>G p.N76K Missense 3/48 - 6
8-133882025-C-T c.228C>T p.N76= Synonymous 3/48 - 21
8-133882023-AACGGCAGTG-A c.228_236del p.N76_E79delinsK MultiAAMissense 3/48 - 1
8-133882025-C-A c.228C>A p.N76K Missense 3/48 - 9
8-133882023-AACGGC-A c.228_232del p.N76Kfs*2 Frameshift 3/48 - 2
8-133882025-C-CT c.228_229insT p.G77Wfs*3 Frameshift 3/48 - 1
8-133882024-A-ACT c.228_229insTC p.G77Sfs*30 Frameshift 3/48 - 1
8-133882025-C-CTTACTTG c.228_229insTTACTTG p.G77Lfs*5 Frameshift 3/48 - 1
8-133882025-AC-A c.228del p.N76Kfs*30 Frameshift 3/48 - 1
8-133882025-ACGGCAGTGAAGTGCTGGGCAGCAGGCAGCCAGGACGGCC-A c.228_266del p.G77_P89del InFrameDeletion 3/48 - 1
8-133882025-C-CTA c.228_229insTA p.G77* Nonsense 3/48 - 1
8-133882024-A-AC c.228dup p.G77Rfs*3 Frameshift 3/48 - 1
8-133882025-C-CTCCA c.228_229insTCCA p.G77Sfs*4 Frameshift 3/48 - 1
8-133882023-A-AACC c.228_229insCAC p.N76_G77insH InFrameInsertion 3/48 - 1
8-133882026-G-C c.229G>C p.G77R Missense 3/48 - 6
8-133882024-ACGG-A c.229_231del p.G77del InFrameDeletion 3/48 - 1
8-133882026-G-A c.229G>A p.G77S Missense 3/48 - 27
8-133882026-CGG-C c.229_230del p.G77Qfs*2 Frameshift 3/48 - 1
8-133882025-C-CGTTGGTTTATTGAT c.229_230insTTGGTTTATTGATG p.G77Vfs*34 Frameshift 3/48 - 1
8-133882025-C-CGTTGGTATATTGAT c.229_230insTTGGTATATTGATG p.G77Vfs*34 Frameshift 3/48 - 1
8-133882026-G-GTT c.229_230insTT p.G77Vfs*30 Frameshift 3/48 - 1
8-133882026-GG-TT c.229_230delinsTT p.G77F Missense 3/48 - 2
8-133882026-G-T c.229G>T p.G77C Missense 3/48 - 13
8-133882026-GGC-TGA c.229_231delinsTGA p.G77* Nonsense 3/48 - 5
8-133882026-G-GT c.229_230insT p.G77Vfs*3 Frameshift 3/48 - 2
8-133882026-G-GC c.229_230insC p.G77Afs*3 Frameshift 3/48 - 3
8-133882026-CGGCAGTG-C c.229_235del p.G77Kfs*27 Frameshift 3/48 - 1
8-133882026-GG-AC c.229_230delinsAC p.G77T Missense 3/48 - 1
8-133882026-GG-AT c.229_230delinsAT p.G77I Missense 3/48 - 1
8-133882026-GG-AA c.229_230delinsAA p.G77N Missense 3/48 - 1
8-133882026-GG-CC c.229_230inv p.G77P Missense 3/48 - 2
8-133882024-ACGGCAGTGAAGTGCTGGGCAGCAGGCAGCCAGGACGGCCTGTGG-A c.229_272del p.G77Lfs*19 Frameshift 3/48 - 1
8-133882026-G-GA c.229_230insA p.G77Efs*3 Frameshift 3/48 - 1
8-133882027-G-GGCAGCC c.230_231insGCAGCC p.G77_S78insQP InFrameInsertion 3/48 - 1
8-133882025-CGGCAGT-C c.230_235del p.G77_S78del InFrameDeletion 3/48 - 1
8-133882027-G-A c.230G>A p.G77D Missense 3/48 - 15
8-133882027-G-C c.230G>C p.G77A Missense 3/48 - 6
8-133882027-G-T c.230G>T p.G77V Missense 3/48 - 4
8-133882025-CG-C c.230del p.G77Afs*29 Frameshift 3/48 - 1
8-133882025-C-CG c.230dup p.S78Qfs*2 Frameshift 3/48 - 2
8-133882025-CGGCAGTGAAGT-C c.230_240del p.G77Afs*30 Frameshift 3/48 - 1
8-133882027-GC-AG c.230_231delinsAG p.G77E Missense 3/48 - 2
8-133882027-G-GC c.231dup p.S78Qfs*2 Frameshift 3/48 - 5
8-133882028-C-T c.231C>T p.G77= Synonymous 3/48 - 15
8-133882028-GCAGTGAAGTGCT-G c.231_242del p.S78_L81del InFrameDeletion 3/48 - 1
8-133882028-GC-G c.231del p.S78Vfs*28 Frameshift 3/48 - 8
8-133882028-C-G c.231C>G p.G77= Synonymous 3/48 - 7
8-133882028-C-A c.231C>A p.G77= Synonymous 3/48 - 11
8-133882028-GCAGTGAAGT-G c.231_239del p.S78_V80del InFrameDeletion 3/48 - 1
8-133882028-GCA-G c.231_232del p.S78* Frameshift 3/48 - 3
8-133882026-GGCAGTGAA-G c.231_238del p.S78Afs*30 Frameshift 3/48 - 1
8-133882028-C-CT c.231_232insT p.S78* Nonsense 3/48 - 3
8-133882028-C-CGG c.231_232insGG p.S78Gfs*29 Frameshift 3/48 - 1
8-133882029-AG-GA c.232_233delinsGA p.S78D Missense 3/48 - 3
8-133882029-AG-GC c.232_233delinsGC p.S78A Missense 3/48 - 5
8-133882029-A-G c.232A>G p.S78G Missense 3/48 - 15
8-133882029-AG-CT c.232_233inv p.S78L Missense 3/48 - 8
8-133882028-C-CA c.232dup p.S78Kfs*2 Frameshift 3/48 - 4
8-133882029-AGT-TGA c.232_234delinsTGA p.S78* Nonsense 3/48 - 4
8-133882029-CAGT-C c.232_234del p.S78del InFrameDeletion 3/48 - 1
8-133882029-AG-TT c.232_233delinsTT p.S78F Missense 3/48 - 4
8-133882029-AG-TA c.232_233delinsTA p.S78Y Missense 3/48 - 3
8-133882029-A-T c.232A>T p.S78C Missense 3/48 - 7
8-133882029-AG-CC c.232_233delinsCC p.S78P Missense 3/48 - 4
8-133882029-CA-C c.232del p.S78Vfs*28 Frameshift 3/48 - 3
8-133882028-C-CATCG c.232_233insTCGA p.S78Ifs*3 Frameshift 3/48 - 1
8-133882029-A-C c.232A>C p.S78R Missense 3/48 - 3
8-133882030-G-GA c.233_234insA p.S78Rfs*2 Frameshift 3/48 - 1
8-133882030-G-A c.233G>A p.S78N Missense 3/48 - 9
8-133882030-AG-A c.233del p.S78Mfs*28 Frameshift 3/48 - 2
8-133882030-G-T c.233G>T p.S78I Missense 3/48 - 8
8-133882030-G-C c.233G>C p.S78T Missense 3/48 - 3
8-133882029-A-AGAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAACGTGATATCTCGTATGCCGTCTTCTGCTTGAAAAAACAAAGATG c.233_234insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAACGTGATATCTCGTATGCCGTCTTCTGCTTGAAAAAACAAAGATGG p.S78delinsRDRKSTRLNSSHNVISRMPSSA* Frameshift 3/48 - 1
8-133882030-G-GCA c.233_234insCA p.E79Mfs*28 Frameshift 3/48 - 1
8-133882029-A-AG c.233dup p.S78Rfs*2 Frameshift 3/48 - 3
8-133882030-GT-AG c.233_234delinsAG p.S78K Missense 3/48 - 1
8-133882030-GT-TG c.233_234delinsTG p.S78M Missense 3/48 - 1
8-133882030-AGTGAAGTGCTGGGCAGCAGGCAGC-A c.233_256del p.S78_P86delinsT MultiAAMissense 3/48 - 1
8-133882028-C-CAGCAGGAAGAGAAGATGCATGA c.233_234insCAGGAAGAGAAGATGCATGAAG p.E79Rfs*8 Frameshift 3/48 - 1
8-133882031-T-C c.234T>C p.S78= Synonymous 3/48 - 16
8-133882030-G-GT c.234dup p.E79* Nonsense 3/48 - 4
8-133882031-T-G c.234T>G p.S78R Missense 3/48 - 7
8-133882031-GT-G c.234del p.S78Rfs*28 Frameshift 3/48 - 3
8-133882031-T-A c.234T>A p.S78R Missense 3/48 - 3
8-133882029-AGTGAAGTGCTGG-A c.234_245del p.E79_G82del InFrameDeletion 3/48 - 1
8-133882029-AGTGAAGTGCT-A c.234_243del p.S78Rfs*25 Frameshift 3/48 - 1
8-133882029-AGT-A c.234_235del p.S78Rfs*32 Frameshift 3/48 - 1
8-133882032-TG-T c.235del p.E79Kfs*27 Frameshift 3/48 - 3
8-133882032-G-C c.235G>C p.E79Q Missense 3/48 - 5
8-133882032-G-A c.235G>A p.E79K Missense 3/48 - 17
8-133882032-G-T c.235G>T p.E79* Nonsense 3/48 - 7
8-133882032-G-GCCGCA c.235_236insCCGCA p.E79Afs*29 Frameshift 3/48 - 1
8-133882032-GA-AG c.235_236delinsAG p.E79R Missense 3/48 - 1
8-133882032-TGA-T c.235_236del p.E79Sfs*31 Frameshift 3/48 - 2
8-133882031-T-TGC c.235_236insCG p.E79Afs*28 Frameshift 3/48 - 1
8-133882031-T-TG c.235dup p.E79Gfs*32 Frameshift 3/48 - 3
8-133882031-T-TGG c.235_236insGG p.E79Gfs*28 Frameshift 3/48 - 1
8-133882032-G-TTTT c.235delinsTTTT p.E79delinsF* MultiAAMissense 3/48 - 1
8-133882032-G-GC c.235_236insC p.E79Afs*32 Frameshift 3/48 - 1
8-133882032-GAA-TGT c.235_237delinsTGT p.E79C Missense 3/48 - 1
8-133882032-G-GGTCAGTA c.235_236insGTCAGTA p.E79Gfs*3 Frameshift 3/48 - 1
8-133882033-A-G c.236A>G p.E79G Missense 3/48 - 12
8-133882033-A-C c.236A>C p.E79A Missense 3/48 - 2
8-133882033-A-T c.236A>T p.E79V Missense 3/48 - 4
8-133882031-TGAA-T c.236_238del p.E79del InFrameDeletion 3/48 - 2
8-133882033-GAA-G c.236_237del p.E79Gfs*31 Frameshift 3/48 - 1
8-133882033-A-AT c.236_237insT p.E79Dfs*32 Frameshift 3/48 - 1
8-133882031-TGAAGTGCTG-T c.236_244del p.E79_L81del InFrameDeletion 3/48 - 1
8-133882034-A-C c.237A>C p.E79D Missense 3/48 - 8
8-133882034-A-T c.237A>T p.E79D Missense 3/48 - 9
8-133882034-A-G c.237A>G p.E79= Synonymous 3/48 - 11
8-133882032-GA-G c.237del p.V80Cfs*26 Frameshift 3/48 - 8
8-133882034-AAGT-A c.237_239del p.V80del InFrameDeletion 3/48 - 1
8-133882032-G-GA c.237dup p.V80Sfs*31 Frameshift 3/48 - 2
8-133882034-A-AAC c.237_238insAC p.V80Tfs*27 Frameshift 3/48 - 1
8-133882034-A-AACCCGTCC c.237_238insACCCGTCC p.V80Tfs*29 Frameshift 3/48 - 1
8-133882035-G-C c.238G>C p.V80L Missense 3/48 - 8
8-133882035-G-T c.238G>T p.V80L Missense 3/48 - 10
8-133882035-GTG-ATC c.238_240delinsATC p.V80I Missense 3/48 - 6
8-133882035-G-A c.238G>A p.V80M Missense 3/48 - 19
8-133882035-GTG-TTT c.238_240delinsTTT p.V80F Missense 3/48 - 3
8-133882034-A-AGAT c.238_239insATG p.E79_V80insD InFrameInsertion 3/48 - 1
8-133882034-A-AGGT c.238_239insGTG p.E79_V80insG InFrameInsertion 3/48 - 1
8-133882035-AGTGCTGGGCAGCAGGCAGCC-A c.238_257del p.V80Rfs*24 Frameshift 3/48 - 1
8-133882035-AG-A c.238del p.V80Cfs*26 Frameshift 3/48 - 2
8-133882035-G-GA c.238_239insA p.V80Dfs*31 Frameshift 3/48 - 1
8-133882035-GT-TA c.238_239delinsTA p.V80* Nonsense 3/48 - 1
8-133882035-GT-TC c.238_239delinsTC p.V80S Missense 3/48 - 1
8-133882035-GTG-TGT c.238_240delinsTGT p.V80C Missense 3/48 - 1
8-133882035-GTG-AAC c.238_240delinsAAC p.V80N Missense 3/48 - 1
8-133882034-A-AG c.238dup p.V80Gfs*31 Frameshift 3/48 - 1
8-133882034-AGTGCTG-A c.239_244del p.V80_L81del InFrameDeletion 3/48 - 1
8-133882036-T-TTACA c.239_240insTACA p.L81Tfs*31 Frameshift 3/48 - 1
8-133882035-G-GT c.239dup p.L81Afs*30 Frameshift 3/48 - 1
8-133882034-AGT-A c.239_240del p.V80Afs*30 Frameshift 3/48 - 1
8-133882036-T-A c.239T>A p.V80E Missense 3/48 - 5
8-133882036-TG-AC c.239_240delinsAC p.V80D Missense 3/48 - 2
8-133882036-T-C c.239T>C p.V80A Missense 3/48 - 7
8-133882036-T-G c.239T>G p.V80G Missense 3/48 - 7
8-133882034-AGTGCTGG-A c.239_245del p.V80Afs*24 Frameshift 3/48 - 1
8-133882036-GT-G c.239del p.V80Gfs*26 Frameshift 3/48 - 4
8-133882034-AGTGCT-A c.239_243del p.V80Gfs*29 Frameshift 3/48 - 1
8-133882037-G-GT c.240_241insT p.L81Sfs*30 Frameshift 3/48 - 2
8-133882037-G-T c.240G>T p.V80= Synonymous 3/48 - 11
8-133882037-G-A c.240G>A p.V80= Synonymous 3/48 - 15
8-133882037-G-C c.240G>C p.V80= Synonymous 3/48 - 11
8-133882037-TGCTGGGCAGCAGGCAG-T c.240_255del p.L81Qfs*20 Frameshift 3/48 - 1
8-133882036-T-TG c.240dup p.L81Afs*30 Frameshift 3/48 - 4
8-133882037-G-GTC c.240_241insTC p.L81Sfs*26 Frameshift 3/48 - 1
8-133882037-TG-T c.240del p.L81Wfs*25 Frameshift 3/48 - 1
8-133882037-G-GC c.241dup p.L81Pfs*30 Frameshift 3/48 - 3
8-133882038-C-G c.241C>G p.L81V Missense 3/48 - 9
8-133882038-C-A c.241C>A p.L81M Missense 3/48 - 6
8-133882038-C-CAA c.241_242insAA p.L81Qfs*26 Frameshift 3/48 - 1
8-133882038-CT-TC c.241_242delinsTC p.L81S Missense 3/48 - 7
8-133882038-GC-G c.241del p.L81Wfs*25 Frameshift 3/48 - 2
8-133882038-CT-GC c.241_242delinsGC p.L81A Missense 3/48 - 1
8-133882038-CT-AC c.241_242delinsAC p.L81T Missense 3/48 - 1
8-133882038-CTG-TTT c.241_243delinsTTT p.L81F Missense 3/48 - 4
8-133882038-C-CAGTT c.241_242insAGTT p.L81Qfs*31 Frameshift 3/48 - 1
8-133882038-CTG-ATC c.241_243delinsATC p.L81I Missense 3/48 - 1
8-133882038-GCTGGGCAGCAGGCAGCCAGGAC-G c.241_262del p.L81Gfs*18 Frameshift 3/48 - 1
8-133882036-TGCTGGGCAGCAG-T c.242_253del p.L81_R84del InFrameDeletion 3/48 - 1
8-133882039-T-TCGGCGA c.242_243insCGGCGA p.G82_S83insEG InFrameInsertion 3/48 - 1
8-133882039-T-A c.242T>A p.L81Q Missense 3/48 - 7
8-133882039-T-C c.242T>C p.L81P Missense 3/48 - 15
8-133882038-C-CT c.242dup p.S83Qfs*28 Frameshift 3/48 - 1
8-133882039-CT-C c.242del p.L81Rfs*25 Frameshift 3/48 - 2
8-133882039-T-TTG c.242_243insTG p.S83Afs*24 Frameshift 3/48 - 1
8-133882039-TG-AT c.242_243delinsAT p.L81H Missense 3/48 - 1
8-133882039-T-G c.242T>G p.L81R Missense 3/48 - 2
8-133882040-G-T c.243G>T p.L81= Synonymous 3/48 - 18
8-133882040-G-A c.243G>A p.L81= Synonymous 3/48 - 18
8-133882040-G-C c.243G>C p.L81= Synonymous 3/48 - 14
8-133882038-C-T c.241C>T p.L81= Synonymous 3/48 - 29
8-133882040-GGGCAGCAGGCAGCCAGGACGGCCTGTGGCT-CTGACAAGC c.243_273delinsCTGACAAGC p.G82* SpliceDonorBlockSubstitution 3/48 - 1
8-133882041-G-A c.244G>A p.G82S Missense 3/48 - 25
8-133882041-G-C c.244G>C p.G82R Missense 3/48 - 10
8-133882041-G-T c.244G>T p.G82C Missense 3/48 - 10
8-133882041-GGC-AAG c.244_246delinsAAG p.G82K Missense 3/48 - 3
8-133882039-TGG-T c.244_245del p.G82Qfs*28 Frameshift 3/48 - 1
8-133882040-G-GGCTCCTACAA c.244_245insCTCCTACAAG p.G82Afs*32 Frameshift 3/48 - 1
8-133882041-GGC-TGA c.244_246delinsTGA p.G82* Nonsense 3/48 - 1
8-133882041-GG-AT c.244_245delinsAT p.G82I Missense 3/48 - 1
8-133882041-GG-AA c.244_245delinsAA p.G82N Missense 3/48 - 1
8-133882041-GG-AC c.244_245delinsAC p.G82T Missense 3/48 - 1
8-133882041-G-GAGATCAGATCTGGTGACTGGAGTTCAGACGTGTGCTCTTCCGAT c.244_245insAGATCAGATCTGGTGACTGGAGTTCAGACGTGTGCTCTTCCGAT p.G82Efs*39 Frameshift 3/48 - 1
8-133882041-GGC-TGG c.244_246delinsTGG p.G82W Missense 3/48 - 1
8-133882041-G-GCTCAATCAGC c.244_245insCTCAATCAGC p.G82Afs*32 Frameshift 3/48 - 1
8-133882042-G-A c.245G>A p.G82D Missense 3/48 - 20
8-133882042-GGCAGCAGGC-G c.245_253del p.G82_Q85delinsE MultiAAMissense 3/48 - 1
8-133882042-G-T c.245G>T p.G82V Missense 3/48 - 6
8-133882039-TG-T c.245del p.G82Afs*24 Frameshift 3/48 - 9
8-133882042-GC-AG c.245_246delinsAG p.G82E Missense 3/48 - 7
8-133882039-T-TG c.245dup p.S83Qfs*28 Frameshift 3/48 - 5
8-133882042-GGC-G c.245_246del p.G82Efs*28 Frameshift 3/48 - 1
8-133882042-G-C c.245G>C p.G82A Missense 3/48 - 2
8-133882041-G-GGTCCTGAAGAGTGAAC c.245_246insTCCTGAAGAGTGAACG p.S83Pfs*4 Frameshift 3/48 - 1
8-133882043-C-T c.246C>T p.G82= Synonymous 3/48