PTEN

PTEN phosphatase and tensin homolog

Annotation transcript: NM_000314.8

5179 unique variant annotations were identified in 5280 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
10-87863635-C-T c.-835C>T - 5-UTRSNV 1/9 - 2
10-87863648-G-C c.-822G>C - 5-UTRSNV 1/9 - 1
10-87863648-G-T c.-822G>T - 5-UTRSNV 1/9 - 1
10-87863705-G-A c.-765G>A - 5-UTRSNV 1/9 - 1
10-87863728-G-A c.-742G>A - 5-UTRSNV 1/9 - 1
10-87863804-G-A c.-666G>A - 5-UTRSNV 1/9 - 1
10-87863861-C-T c.-609C>T - 5-UTRSNV 1/9 - 1
10-87863874-T-C c.-596T>C - 5-UTRSNV 1/9 - 1
10-87863915-C-T c.-555C>T - 5-UTRSNV 1/9 - 1
10-87863957-G-A c.-513G>A - 5-UTRSNV 1/9 - 1
10-87863957-G-C c.-513G>C - 5-UTRSNV 1/9 - 1
10-87863957-G-T c.-513G>T - 5-UTRSNV 1/9 - 1
10-87863959-G-A c.-511G>A - 5-UTRSNV 1/9 - 17
10-87863959-G-C c.-511G>C - 5-UTRSNV 1/9 - 17
10-87864003-A-C c.-467A>C - 5-UTRSNV 1/9 - 1
10-87864061-G-C c.-409G>C - 5-UTRSNV 1/9 - 1
10-87864104-T-C c.-366T>C - 5-UTRSNV 1/9 - 1
10-87864104-T-G c.-366T>G - 5-UTRSNV 1/9 - 1
10-87864112-C-T c.-358C>T - 5-UTRSNV 1/9 - 1
10-87864140-C-G c.-330C>G - 5-UTRSNV 1/9 - 1
10-87864144-G-C c.-326G>C - 5-UTRSNV 1/9 - 15
10-87864144-G-GC c.-325dup - 5-UTRInsertion 1/9 - 1
10-87864314-C-G c.-156C>G - 5-UTRSNV 1/9 - 1
10-87864359-G-A c.-111G>A - 5-UTRSNV 1/9 - 1
10-87864359-G-T c.-111G>T - 5-UTRSNV 1/9 - 1
10-87864461-C-G c.-9C>G - 5-UTRSNV 1/9 - 18
10-87864470-A-G c.1A>G p.M1? Missense 1/9 - 1
10-87864470-A-T c.1A>T p.M1? Missense 1/9 - 1
10-87864470-CA-C c.1del p.M1? CdsStartDeletion 1/9 - 1
10-87864470-CAT-C c.1_2del p.M1? CdsStartDeletion 1/9 - 1
10-87864470-CATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGG-C c.3_61del p.M1_?21 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 1/9 - 3
10-87864471-T-A c.2T>A p.M1? Missense 1/9 - 2
10-87864471-T-C c.2T>C p.M1? Missense 1/9 - 5
10-87864471-T-G c.2T>G p.M1? Missense 1/9 - 2
10-87864469-CATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGG-C c.3_61del p.M1_?21 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion,CdsStopDeletion 1/9 - 3
10-87864472-G-A c.3G>A p.M1? Missense 1/9 - 7
10-87864472-G-C c.3G>C p.M1? Missense 1/9 - 5
10-87864472-G-T c.3G>T p.M1? Missense 1/9 - 7
10-87864473-A-G c.4A>G p.T2A Missense 1/9 - 3
10-87864474-AC-A c.5del p.T2Kfs*22 Frameshift 1/9 - 1
10-87864474-C-T c.5C>T p.T2I Missense 1/9 - 1
10-87864475-A-C c.6A>C p.T2= Synonymous 1/9 - 5
10-87864475-A-G c.6A>G p.T2= Synonymous 1/9 - 7
10-87864475-A-T c.6A>T p.T2= Synonymous 1/9 - 5
10-87864476-AGCCATCAT-A c.7_14del p.A3Qfs*5 Frameshift 1/9 - 1
10-87864476-G-A c.7G>A p.A3T Missense 1/9 - 2
10-87864476-GCC-TAA c.7_9delinsTAA p.A3* Nonsense 1/9 - 1
10-87864476-GC-TT c.7_8delinsTT p.A3F Missense 1/9 - 1
10-87864476-G-T c.7G>T p.A3S Missense 1/9 - 1
10-87864477-C-A c.8C>A p.A3D Missense 1/9 - 1
10-87864477-CCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGA-AGTAATGTTAGCGGTTAG c.8_53delinsAGTAATGTTAGCGGTTAG p.A3Efs*2 Frameshift 1/9 - 1
10-87864477-C-T c.8C>T p.A3V Missense 1/9 - 7
10-87864478-C-A c.9C>A p.A3= Synonymous 1/9 - 1
10-87864478-C-G c.9C>G p.A3= Synonymous 1/9 - 2
10-87864478-C-T c.9C>T p.A3= Synonymous 1/9 - 1
10-87864479-A-G c.10A>G p.I4V Missense 1/9 - 2
10-87864480-ATCAT-A c.11_14del p.I4Tfs*19 Frameshift 1/9 - 1
10-87864481-C-A c.12C>A p.I4= Synonymous 1/9 - 1
10-87864481-C-T c.12C>T p.I4= Synonymous 1/9 - 2
10-87864482-A-G c.13A>G p.I5V Missense 1/9 - 3
10-87864482-CA-C c.13del p.I5Sfs*19 Frameshift 1/9 - 1
10-87864483-T-C c.14T>C p.I5T Missense 1/9 - 1
10-87864483-T-G c.14T>G p.I5S Missense 1/9 - 1
10-87864484-C-CG c.15_16insG p.K6Efs*5 Frameshift 1/9 - 1
10-87864484-C-CT c.15_16insT p.K6* Nonsense 1/9 - 3
10-87864484-C-G c.15C>G p.I5M Missense 1/9 - 1
10-87864484-TC-T c.15del p.E7Rfs*17 Frameshift 1/9 - 1
10-87864481-CATCAAAGAG-C c.16_24del p.K6_I8del InFrameDeletion 1/9 - 1
10-87864485-A-G c.16A>G p.K6E Missense 1/9 - 11
10-87864485-A-T c.16A>T p.K6* Nonsense 1/9 - 2
10-87864484-CAAAGAG-C c.17_22del p.K6_E7del InFrameDeletion 1/9 - 1
10-87864484-CAAAG-C c.17_20del p.K6Rfs*17 Frameshift 1/9 - 1
10-87864484-CAA-C c.17_18del p.K6Rfs*4 Frameshift 1/9 - 37
10-87864486-A-AGCG c.17_18insGCG p.K6_E7insR InFrameInsertion 1/9 - 1
10-87864486-A-C c.17A>C p.K6T Missense 1/9 - 4
10-87864486-A-G c.17A>G p.K6R Missense 1/9 - 6
10-87864486-A-T c.17A>T p.K6I Missense 1/9 - 9
10-87864487-A-AT c.18_19insT p.E7* Nonsense 1/9 - 1
10-87864487-A-C c.18A>C p.K6N Missense 1/9 - 3
10-87864487-A-G c.18A>G p.K6= Synonymous 1/9 - 5
10-87864487-A-T c.18A>T p.K6N Missense 1/9 - 4
10-87864487-A-AGCG c.19_20insCGG p.K6_E7insA InFrameInsertion 1/9 - 1
10-87864487-A-AGCGGCG c.19_20insCGGCGG p.K6_E7insAA InFrameInsertion 1/9 - 1
10-87864488-AG-A c.19del p.E7Rfs*17 Frameshift 1/9 - 2
10-87864488-AGAG-A c.19_21del p.E7del InFrameDeletion 1/9 - 2
10-87864488-G-T c.19G>T p.E7* Nonsense 1/9 - 29
10-87864489-A-G c.20A>G p.E7G Missense 1/9 - 3
10-87864489-A-T c.20A>T p.E7V Missense 1/9 - 1
10-87864489-GA-G c.20del p.E7Gfs*17 Frameshift 1/9 - 1
10-87864486-AAG-A c.21_22del p.E7Dfs*3 Frameshift 1/9 - 2
10-87864488-GAGATCGTTAGCAGAAAC-G c.21_37del p.I8Kfs*30 Frameshift 1/9 - 1
10-87864489-A-AG c.21dup p.I8Dfs*3 Frameshift 1/9 - 3
10-87864491-A-G c.22A>G p.I8V Missense 1/9 - 4
10-87864491-GATC-G c.22_24del p.I8del InFrameDeletion 1/9 - 1
10-87864492-AT-A c.23del p.I8Tfs*16 Frameshift 1/9 - 1
10-87864492-T-C c.23T>C p.I8T Missense 1/9 - 6
10-87864492-T-TGGC c.23_24insGGC p.I8delinsMA MultiAAMissense 1/9 - 1
10-87864491-ATCGT-A c.24_27del p.V9Afs*14 Frameshift 1/9 - 1
10-87864493-C-A c.24C>A p.I8= Synonymous 1/9 - 2
10-87864493-C-G c.24C>G p.I8M Missense 1/9 - 1
10-87864493-C-T c.24C>T p.I8= Synonymous 1/9 - 2
10-87864493-TC-T c.24del p.I8Mfs*16 Frameshift 1/9 - 1
10-87864490-GATCGTTAGCAGAAACAAAAGGAGAT-G c.25_49del p.V9Kfs*7 Frameshift 1/9 - 1
10-87864494-CGTT-C c.25_27del p.V9del InFrameDeletion 1/9 - 1
10-87864494-G-A c.25G>A p.V9I Missense 1/9 - 3
10-87864494-G-C c.25G>C p.V9L Missense 1/9 - 2
10-87864494-G-T c.25G>T p.V9F Missense 1/9 - 1
10-87864494-GTT-ATG c.25_27delinsATG p.V9M Missense 1/9 - 1
10-87864495-T-A c.26T>A p.V9D Missense 1/9 - 4
10-87864494-GT-G c.27del p.S10Afs*14 Frameshift 1/9 - 3
10-87864497-A-G c.28A>G p.S10G Missense 1/9 - 10
10-87864497-AG-CA c.28_29delinsCA p.S10H Missense 1/9 - 6
10-87864497-AG-CC c.28_29delinsCC p.S10P Missense 1/9 - 4
10-87864497-AGC-GAG c.28_30delinsGAG p.S10E Missense 1/9 - 39
10-87864497-AG-CT c.28_29inv p.S10L Missense 1/9 - 2
10-87864497-AG-GA c.28_29delinsGA p.S10D Missense 1/9 - 60
10-87864497-AG-GC c.28_29delinsGC p.S10A Missense 1/9 - 197
10-87864497-AG-TT c.28_29delinsTT p.S10F Missense 1/9 - 20
10-87864497-A-T c.28A>T p.S10C Missense 1/9 - 101
10-87864496-TAGCAGA-T c.29_34del p.S10_R11del InFrameDeletion 1/9 - 2
10-87864498-G-A c.29G>A p.S10N Missense 1/9 - 26
10-87864498-G-C c.29G>C p.S10T Missense 1/9 - 1
10-87864498-GC-AG c.29_30delinsAG p.S10K Missense 1/9 - 3
10-87864498-GC-TG c.29_30delinsTG p.S10M Missense 1/9 - 2
10-87864498-G-T c.29G>T p.S10I Missense 1/9 - 14
10-87864496-TAGCAGAAACAAA-T c.30_41del p.S10_K13del InFrameDeletion 1/9 - 2
10-87864496-TAGC-T c.30_32del p.S10del InFrameDeletion 1/9 - 6
10-87864497-A-C c.28A>C p.S10R Missense 1/9 - 18
10-87864499-C-A c.30C>A p.S10R Missense 1/9 - 17
10-87864499-C-CT c.30_31insT p.R11* Nonsense 1/9 - 2
10-87864499-C-G c.30C>G p.S10R Missense 1/9 - 20
10-87864500-A-G c.31A>G p.R11G Missense 1/9 - 1
10-87864500-AGA-CAT c.31_33delinsCAT p.R11H Missense 1/9 - 1
10-87864500-AG-CA c.31_32delinsCA p.R11Q Missense 1/9 - 1
10-87864500-AG-GA c.31_32delinsGA p.R11E Missense 1/9 - 1
10-87864500-AG-GC c.31_32delinsGC p.R11A Missense 1/9 - 5
10-87864500-A-T c.31A>T p.R11* Nonsense 1/9 - 5
10-87864499-CAGA-C c.32_34del p.R11del InFrameDeletion 1/9 - 1
10-87864501-G-A c.32G>A p.R11K Missense 1/9 - 8
10-87864501-G-T c.32G>T p.R11I Missense 1/9 - 4
10-87864500-A-C c.31A>C p.R11= Synonymous 1/9 - 1
10-87864502-A-AT c.33_34insT p.N12* Nonsense 1/9 - 2
10-87864502-A-C c.33A>C p.R11S Missense 1/9 - 1
10-87864502-A-G c.33A>G p.R11= Synonymous 1/9 - 1
10-87864502-A-T c.33A>T p.R11S Missense 1/9 - 1
10-87864499-CAGAAACAAAAGGAGATATCA-C c.34_53del p.N12Gfs*25 Frameshift 1/9 - 1
10-87864503-AA-TG c.34_35delinsTG p.N12C Missense 1/9 - 1
10-87864503-A-C c.34A>C p.N12H Missense 1/9 - 2
10-87864503-A-G c.34A>G p.N12D Missense 1/9 - 3
10-87864501-GA-G c.35del p.N12Tfs*12 Frameshift 1/9 - 2
10-87864504-A-C c.35A>C p.N12T Missense 1/9 - 8
10-87864504-A-T c.35A>T p.N12I Missense 1/9 - 1
10-87864502-AAAC-A c.36_38del p.N12del InFrameDeletion 1/9 - 1
10-87864505-C-G c.36C>G p.N12K Missense 1/9 - 2
10-87864504-ACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCTGTAT-A c.37_79+5del - SpliceDonorDeletion 1/9 1/8 1
10-87864506-AAA-TAT c.37_39delinsTAT p.K13Y Missense 1/9 - 1
10-87864506-AAA-TTT c.37_39inv p.K13F Missense 1/9 - 1
10-87864506-AA-CC c.37_38delinsCC p.K13P Missense 1/9 - 1
10-87864506-AA-GC c.37_38delinsGC p.K13A Missense 1/9 - 13
10-87864506-A-C c.37A>C p.K13Q Missense 1/9 - 3
10-87864506-A-G c.37A>G p.K13E Missense 1/9 - 39
10-87864506-A-T c.37A>T p.K13* Nonsense 1/9 - 7
10-87864505-CAAA-C c.38_40del p.K13del InFrameDeletion 1/9 - 1
10-87864507-A-C c.38A>C p.K13T Missense 1/9 - 6
10-87864507-A-G c.38A>G p.K13R Missense 1/9 - 16
10-87864504-ACAAAAGGAGATAT-A c.39_51del p.R15Mfs*5 Frameshift 1/9 - 2
10-87864505-CAA-C c.39_40del p.R14Efs*29 Frameshift 1/9 - 3
10-87864506-AAAAGG-A c.39_43del p.R14Ifs*28 Frameshift 1/9 - 1
10-87864508-AAAG-A c.39_41del p.R15del InFrameDeletion 1/9 - 2
10-87864508-A-AT c.39_40insT p.R14* Nonsense 1/9 - 2
10-87864508-A-C c.39A>C p.K13N Missense 1/9 - 3
10-87864508-A-G c.39A>G p.K13= Synonymous 1/9 - 1
10-87864508-A-T c.39A>T p.K13N Missense 1/9 - 2
10-87864505-CA-C c.40del p.R14Gfs*10 Frameshift 1/9 - 2
10-87864505-C-CA c.40dup p.R14Kfs*30 Frameshift 1/9 - 8
10-87864508-A-AAAAG c.40_41insAAGA p.R14Kfs*31 Frameshift 1/9 - 1
10-87864509-A-G c.40A>G p.R14G Missense 1/9 - 20
10-87864509-AG-CT c.40_41inv p.R14L Missense 1/9 - 1
10-87864509-AG-GC c.40_41delinsGC p.R14A Missense 1/9 - 11
10-87864509-AGG-TTT c.40_42delinsTTT p.R14F Missense 1/9 - 1
10-87864509-A-T c.40A>T p.R14W Missense 1/9 - 2
10-87864510-G-T c.41G>T p.R14M Missense 1/9 - 8
10-87864508-AAGG-A c.42_44del p.R15del InFrameDeletion 1/9 - 4
10-87864509-A-C c.40A>C p.R14= Synonymous 1/9 - 1
10-87864511-G-A c.42G>A p.R14= Synonymous 1/9 - 1
10-87864511-G-C c.42G>C p.R14S Missense 1/9 - 9
10-87864511-G-GT c.42_43insT p.R15* Nonsense 1/9 - 2
10-87864511-G-T c.42G>T p.R14S Missense 1/9 - 9
10-87864512-A-G c.43A>G p.R15G Missense 1/9 - 6
10-87864512-AG-CA c.43_44delinsCA p.R15Q Missense 1/9 - 2
10-87864512-AG-GA c.43_44delinsGA p.R15E Missense 1/9 - 1
10-87864512-AG-GC c.43_44delinsGC p.R15A Missense 1/9 - 11
10-87864512-A-T c.43A>T p.R15* Nonsense 1/9 - 15
10-87864512-GA-G c.43del p.R15Dfs*9 Frameshift 1/9 - 3
10-87864512-GAGA-G c.43_45del p.R15del InFrameDeletion 1/9 - 7
10-87864511-GAGAT-G c.44_47del p.R15Ifs*8 Frameshift 1/9 - 1
10-87864512-A-AG c.44dup p.Y16Ifs*28 Frameshift 1/9 - 1
10-87864513-G-A c.44G>A p.R15K Missense 1/9 - 26
10-87864513-G-C c.44G>C p.R15T Missense 1/9 - 10
10-87864513-G-T c.44G>T p.R15I Missense 1/9 - 20
10-87864514-A-C c.45A>C p.R15S Missense 1/9 - 28
10-87864514-A-G c.45A>G p.R15= Synonymous 1/9 - 2
10-87864514-A-T c.45A>T p.R15S Missense 1/9 - 33
10-87864514-AT-TC c.45_46delinsTC p.R15_Y16delinsSH MultiAAMissense 1/9 - 1
10-87864514-GATAT-G c.45_48del p.R15Sfs*8 Frameshift 1/9 - 1
10-87864514-A-AT c.46dup p.Y16Lfs*28 Frameshift 1/9 - 20
10-87864515-T-A c.46T>A p.Y16N Missense 1/9 - 1
10-87864515-TA-GC c.46_47delinsGC p.Y16A Missense 1/9 - 3
10-87864515-TA-GG c.46_47delinsGG p.Y16G Missense 1/9 - 1
10-87864515-T-C c.46T>C p.Y16H Missense 1/9 - 7
10-87864515-T-G c.46T>G p.Y16D Missense 1/9 - 4
10-87864513-GAT-G c.47_48del p.Y16Sfs*27 Frameshift 1/9 - 1
10-87864515-T-TA c.47dup p.Y16* Nonsense 1/9 - 6
10-87864516-A-C c.47A>C p.Y16S Missense 1/9 - 2
10-87864516-A-G c.47A>G p.Y16C Missense 1/9 - 10
10-87864516-A-T c.47A>T p.Y16F Missense 1/9 - 3
10-87864515-TATC-T c.48_50del p.Y16_Q17delins* MultiAAMissense 1/9 - 2
10-87864516-A-ATT c.48_49insTT p.Q17Ffs*8 Frameshift 1/9 - 1
10-87864517-AT-A c.48del p.Q17Kfs*7 Frameshift 1/9 - 1
10-87864517-ATC-A c.48_49del p.Y16* Frameshift 1/9 - 1
10-87864517-T-A c.48T>A p.Y16* Nonsense 1/9 - 33
10-87864517-T-C c.48T>C p.Y16= Synonymous 1/9 - 5
10-87864517-T-G c.48T>G p.Y16* Nonsense 1/9 - 37
10-87864517-T-TA c.48_49insA p.Q17Tfs*27 Frameshift 1/9 - 1
10-87864518-CA-GC c.49_50delinsGC p.Q17A Missense 1/9 - 2
10-87864518-C-G c.49C>G p.Q17E Missense 1/9 - 8
10-87864518-C-T c.49C>T p.Q17* Nonsense 1/9 - 50
10-87864518-TCAA-T c.49_51del p.Q17del InFrameDeletion 1/9 - 2
10-87864518-TC-T c.49del p.Q17Kfs*7 Frameshift 1/9 - 2
10-87864519-A-C c.50A>C p.Q17P Missense 1/9 - 2
10-87864519-A-G c.50A>G p.Q17R Missense 1/9 - 4
10-87864519-A-T c.50A>T p.Q17L Missense 1/9 - 1
10-87864519-CAA-C c.50_51del p.Q17Rfs*26 Frameshift 1/9 - 4
10-87864518-CA-C c.51del p.E18Rfs*6 Frameshift 1/9 - 1
10-87864518-C-CA c.51dup p.E18Rfs*26 Frameshift 1/9 - 1
10-87864520-A-AT c.51_52insT p.E18* Nonsense 1/9 - 1
10-87864520-A-C c.51A>C p.Q17H Missense 1/9 - 1
10-87864520-A-T c.51A>T p.Q17H Missense 1/9 - 1
10-87864521-G-A c.52G>A p.E18K Missense 1/9 - 4
10-87864521-GAG-AAC c.52_54delinsAAC p.E18N Missense 1/9 - 1
10-87864521-GAG-TGT c.52_54delinsTGT p.E18C Missense 1/9 - 2
10-87864521-GAG-TTT c.52_54delinsTTT p.E18F Missense 1/9 - 1
10-87864521-G-C c.52G>C p.E18Q Missense 1/9 - 1
10-87864521-G-T c.52G>T p.E18* Nonsense 1/9 - 5
10-87864522-A-AAT c.53_54insAT p.D19Wfs*6 Frameshift 1/9 - 1
10-87864522-A-G c.53A>G p.E18G Missense 1/9 - 5
10-87864522-GA-G c.53del p.E18Gfs*6 Frameshift 1/9 - 1
10-87864520-AGAG-A c.54_56del p.E18del InFrameDeletion 1/9 - 1
10-87864523-AGG-A c.54_55del p.D19Wfs*24 Frameshift 1/9 - 4
10-87864523-G-C c.54G>C p.E18D Missense 1/9 - 2
10-87864523-G-GT c.54_55insT p.D19* Nonsense 1/9 - 1
10-87864523-G-T c.54G>T p.E18D Missense 1/9 - 2
10-87864522-A-AG c.55dup p.D19Gfs*25 Frameshift 1/9 - 6
10-87864522-AG-A c.55del p.D19Mfs*5 Frameshift 1/9 - 1
10-87864524-G-A c.55G>A p.D19N Missense 1/9 - 8
10-87864524-G-T c.55G>T p.D19Y Missense 1/9 - 2
10-87864524-G-GA c.56dup p.D19Efs*25 Frameshift 1/9 - 1
10-87864525-A-G c.56A>G p.D19G Missense 1/9 - 3
10-87864525-A-T c.56A>T p.D19V Missense 1/9 - 3
10-87864526-ATGG-A c.57_59del p.D19_G20delinsE MultiAAMissense 1/9 - 1
10-87864526-T-A c.57T>A p.D19E Missense 1/9 - 2
10-87864526-T-C c.57T>C p.D19= Synonymous 1/9 - 1
10-87864526-T-G c.57T>G p.D19E Missense 1/9 - 3
10-87864522-AGGAT-A c.58_61del p.G20Sfs*3 Frameshift 1/9 - 1
10-87864527-G-A c.58G>A p.G20R Missense 1/9 - 5
10-87864527-G-C c.58G>C p.G20R Missense 1/9 - 3
10-87864527-GGA-TGG c.58_60delinsTGG p.G20W Missense 1/9 - 1
10-87864527-G-T c.58G>T p.G20* Nonsense 1/9 - 10
10-87864529-ATTCGAC-TCCTTAT c.60_66delinsTCCTTAT p.F21_D22delinsPY MultiAAMissense 1/9 - 1
10-87864526-TG-T c.59del p.G20Dfs*4 Frameshift 1/9 - 3
10-87864528-G-A c.59G>A p.G20E Missense 1/9 - 20
10-87864528-G-C c.59G>C p.G20A Missense 1/9 - 1
10-87864528-G-T c.59G>T p.G20V Missense 1/9 - 6
10-87864528-G-GA c.60dup p.F21Ifs*23 Frameshift 1/9 - 2
10-87864529-A-C c.60A>C p.G20= Synonymous 1/9 - 1
10-87864529-A-G c.60A>G p.G20= Synonymous 1/9 - 3
10-87864529-A-T c.60A>T p.G20= Synonymous 1/9 - 4
10-87864530-T-C c.61T>C p.F21L Missense 1/9 - 4
10-87864530-TT-GC c.61_62delinsGC p.F21A Missense 1/9 - 8
10-87864532-C-A c.63C>A p.F21L Missense 1/9 - 5
10-87864532-C-G c.63C>G p.F21L Missense 1/9 - 3
10-87864529-AT-A c.62del p.F21Sfs*3 Frameshift 1/9 - 1
10-87864531-T-C c.62T>C p.F21S Missense 1/9 - 2
10-87864532-C-CA c.63_64insA p.D22Rfs*22 Frameshift 1/9 - 1
10-87864532-C-T c.63C>T p.F21= Synonymous 1/9 - 1
10-87864531-TCGA-T c.64_66del p.D22del InFrameDeletion 1/9 - 1
10-87864533-CGACTT-C c.64_68del p.D22Rfs*20 Frameshift 1/9 - 1
10-87864533-CG-C c.64del p.D22Tfs*2 Frameshift 1/9 - 1
10-87864533-G-A c.64G>A p.D22N Missense 1/9 - 2
10-87864533-GAC-TAA c.64_66delinsTAA p.D22* Nonsense 1/9 - 1
10-87864533-GA-TG c.64_65delinsTG p.D22C Missense 1/9 - 1
10-87864533-G-C c.64G>C p.D22H Missense 1/9 - 5
10-87864533-G-T c.64G>T p.D22Y Missense 1/9 - 4
10-87864534-A-C c.65A>C p.D22A Missense 1/9 - 2
10-87864534-A-G c.65A>G p.D22G Missense 1/9 - 5
10-87864535-C-A c.66C>A p.D22E Missense 1/9 - 4
10-87864535-C-G c.66C>G p.D22E Missense 1/9 - 8
10-87864535-C-T c.66C>T p.D22= Synonymous 1/9 - 2
10-87864532-CGACTTAGACTT-C c.67_77del p.D24Yfs*16 Frameshift 1/9 - 1
10-87864536-T-C c.67T>C p.L23= Synonymous 1/9 - 1
10-87864536-T-G c.67T>G p.L23V Missense 1/9 - 6
10-87864536-T-TAA c.67_68insAA p.L23* Nonsense 1/9 - 1
10-87864536-TT-CA c.67_68delinsCA p.L23Q Missense 1/9 - 1
10-87864536-TT-CC c.67_68delinsCC p.L23P Missense 1/9 - 3
10-87864536-T-TCGGGAGC c.67_68insCGGGAGC p.L23Sfs*23 Frameshift 1/9 - 1
10-87864536-TT-GC c.67_68delinsGC p.L23A Missense 1/9 - 7
10-87864535-CT-C c.68del p.L23* Frameshift 1/9 - 2
10-87864537-T-A c.68T>A p.L23* Nonsense 1/9 - 5
10-87864537-T-C c.68T>C p.L23S Missense 1/9 - 1
10-87864537-T-G c.68T>G p.L23* Nonsense 1/9 - 11
10-87864537-TTAGA-T c.68_71del p.L23Sfs*2 Frameshift 1/9 - 1
10-87864537-T-TG c.68_69insG p.D24Rfs*20 Frameshift 1/9 - 2
10-87864532-CGACTTA-C c.69_74del p.D24_L25del InFrameDeletion 1/9 - 1
10-87864537-T-TA c.69dup p.D24Rfs*20 Frameshift 1/9 - 5
10-87864538-A-AAG c.69_70insAG p.D24Rfs*3 Frameshift 1/9 - 2
10-87864538-A-AT c.69_70insT p.D24* Nonsense 1/9 - 2
10-87864538-A-C c.69A>C p.L23F Missense 1/9 - 15
10-87864538-A-T c.69A>T p.L23F Missense 1/9 - 10
10-87864539-G-A c.70G>A p.D24N Missense 1/9 - 22
10-87864539-G-C c.70G>C p.D24H Missense 1/9 - 36
10-87864539-G-T c.70G>T p.D24Y Missense 1/9 - 28
10-87864540-A-C c.71A>C p.D24A Missense 1/9 - 3
10-87864540-A-G c.71A>G p.D24G Missense 1/9 - 47
10-87864540-A-T c.71A>T p.D24V Missense 1/9 - 15
10-87864540-GACT-G c.71_73del p.D24_L25delinsV MultiAAMissense 1/9 - 1
10-87864541-C-A c.72C>A p.D24E Missense 1/9 - 8
10-87864541-C-CAGA c.72_73insAGA p.D24_L25insR InFrameInsertion 1/9 - 2
10-87864541-C-G c.72C>G p.D24E Missense 1/9 - 10
10-87864541-C-T c.72C>T p.D24= Synonymous 1/9 - 3
10-87864538-AGACTT-A c.73_77del p.T26Yfs*16 Frameshift 1/9 - 1
10-87864542-CTT-C c.73_74del p.L25Dfs*18 Frameshift 1/9 - 3
10-87864542-CTTG-C c.73_75del p.L25del InFrameDeletion 1/9 - 1
10-87864542-T-G c.73T>G p.L25V Missense 1/9 - 9
10-87864542-TT-GC c.73_74delinsGC p.L25A Missense 1/9 - 3
10-87864540-ACTTGAC-A c.74_79del p.L25_T26del SpliceDonorDeletion 1/9 - 1
10-87864541-C-CT c.74dup p.L25Ffs*19 Frameshift 1/9 - 2
10-87864541-CT-C c.74del p.L25* Frameshift 1/9 - 1
10-87864543-T-A c.74T>A p.L25* Nonsense 1/9 - 3
10-87864543-T-C c.74T>C p.L25S Missense 1/9 - 8
10-87864543-T-G c.74T>G p.L25W Missense 1/9 - 2
10-87864544-G-A c.75G>A p.L25= Synonymous 1/9 - 2
10-87864544-G-C c.75G>C p.L25F Missense 1/9 - 22
10-87864544-G-T c.75G>T p.L25F Missense 1/9 - 18
10-87864542-TTGACC-T c.76_79+1del - SpliceDonorDeletion 1/9 1/8 1
10-87864545-A-C c.76A>C p.T26P Missense 1/9 - 12
10-87864545-A-G c.76A>G p.T26A Missense 1/9 - 6
10-87864545-GACCTGTATCCAT-G c.76_79+8del - SpliceDonorDeletion 1/9 1/8 1
10-87864546-CC-GG c.77_78inv p.T26R Missense 1/9 - 1
10-87864546-CC-TG c.77_78delinsTG p.T26M Missense 1/9 - 1
10-87864546-C-G c.77C>G p.T26S Missense 1/9 - 1
10-87864546-C-T c.77C>T p.T26I Missense 1/9 - 9
10-87864547-C-A c.78C>A p.T26= Synonymous 1/9 - 4
10-87864547-C-G c.78C>G p.T26= Synonymous 1/9 - 3
10-87864547-C-T c.78C>T p.T26= Synonymous 1/9 - 8
10-87864548-T-A c.79T>A p.Y27N Missense 1/9 - 19
10-87864548-T-C c.79T>C p.Y27H Missense 1/9 - 5
10-87864548-T-G c.79T>G p.Y27D Missense 1/9 - 20
10-87864549-G-A c.79+1G>A - IntronicSNV - 1/8 1
10-87864549-G-C c.79+1G>C - IntronicSNV - 1/8 1
10-87864550-T-C c.79+2T>C - IntronicSNV - 1/8 2
10-87864551-A-G c.79+3A>G - IntronicSNV - 1/8 1
10-87864553-C-T c.79+5C>T - IntronicSNV - 1/8 1
10-87864554-C-T c.79+6C>T - IntronicSNV - 1/8 1
10-87864555-A-G c.79+7A>G - IntronicSNV - 1/8 4
10-87864555-A-T c.79+7A>T - IntronicSNV - 1/8 1
10-87864563-G-T c.79+15G>T - IntronicSNV - 1/8 1
10-87864568-C-T c.79+20C>T - IntronicSNV - 1/8 1
10-87864571-C-G c.79+23C>G - IntronicSNV - 1/8 1
10-87864574-T-C c.79+26T>C - IntronicSNV - 1/8 1
10-87864577-A-G c.79+29A>G - IntronicSNV - 1/8 1
10-87864583-C-G c.79+35C>G - IntronicSNV - 1/8 1
10-87864583-C-T c.79+35C>T - IntronicSNV - 1/8 4
10-87864584-T-C c.79+36T>C - IntronicSNV - 1/8 1
10-87864588-A-G c.79+40A>G - IntronicSNV - 1/8 1
10-87864588-ACT-A c.79+45_79+46del - IntronicDeletion - 1/8 1
10-87864619-G-GA c.79+75dup - IntronicInsertion - 1/8 1
10-87864649-A-G c.79+101A>G - IntronicSNV - 1/8 1
10-87864665-G-A c.79+117G>A - IntronicSNV - 1/8 1
10-87864815-T-G c.79+267T>G - IntronicSNV - 1/8 1
10-87864998-A-C c.79+450A>C - IntronicSNV - 1/8 1
10-87865032-A-G c.79+484A>G - IntronicSNV - 1/8 1
10-87873474-C-T c.79+8926C>T - IntronicSNV - 1/8 1
10-87876390-GT-G c.79+11852del - IntronicDeletion - 1/8 1
10-87879313-T-C c.80-14712T>C - IntronicSNV - 1/8 1
10-87880205-G-A c.80-13820G>A - IntronicSNV - 1/8 3
10-87880205-G-T c.80-13820G>T - IntronicSNV - 1/8 3
10-87882852-A-G c.80-11173A>G - IntronicSNV - 1/8 2
10-87885716-A-G c.80-8309A>G - IntronicSNV - 1/8 5
10-87887397-G-A c.80-6628G>A - IntronicSNV - 1/8 1
10-87889820-A-G c.80-4205A>G - IntronicSNV - 1/8 5
10-87890081-G-A c.80-3944G>A - IntronicSNV - 1/8 1
10-87890791-C-T c.80-3234C>T - IntronicSNV - 1/8 1
10-87891002-C-T c.80-3023C>T - IntronicSNV - 1/8 2
10-87893929-A-G c.80-96A>G - IntronicSNV - 1/8 23
10-87893962-A-G c.80-63A>G - IntronicSNV - 1/8 1
10-87893962-A-T c.80-63A>T - IntronicSNV - 1/8 1
10-87894014-A-G c.80-11A>G - IntronicSNV - 1/8 1
10-87894024-G-GA c.80dup p.Y27* SpliceAcceptorInsertion 2/9 - 3
10-87894025-A-C c.80A>C p.Y27S Missense 2/9 - 15
10-87894025-A-G c.80A>G p.Y27C Missense 2/9 - 38
10-87894025-GATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATAC-G c.81_139del p.Y27* Unclassified 2/9 - 4
10-87894025-A-AT c.81dup p.I28Yfs*16 SpliceAcceptorInsertion 2/9 - 2
10-87894025-A-ATC c.81_82insCT p.I28Lfs*27 SpliceAcceptorInsertion 2/9 - 3
10-87894026-AT-A c.81del p.Y27* Frameshift 2/9 - 3
10-87894026-T-A c.81T>A p.Y27* Nonsense 2/9 - 6
10-87894026-T-C c.81T>C p.Y27= Synonymous 2/9 - 1
10-87894026-T-G c.81T>G p.Y27* Nonsense 2/9 - 8
10-87894024-GATATTTATCCAAACATT-G c.82_98del p.I28Cfs*10 Frameshift 2/9 - 1
10-87894024-GATATTT-G c.82_87del p.I28_Y29del InFrameDeletion 2/9 - 1
10-87894027-A-T c.82A>T p.I28F Missense 2/9 - 2
10-87894027-TATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAG-T c.82_140del p.I28Efs*4 Multi:SpliceAcceptorDeletion,CdsStopDeletion 2/9 - 1
10-87894028-T-A c.83T>A p.I28N Missense 2/9 - 9
10-87894028-T-C c.83T>C p.I28T Missense 2/9 - 10
10-87894028-T-G c.83T>G p.I28S Missense 2/9 - 7
10-87894025-ATATT-A c.84_87del p.Y29Qfs*24 Frameshift 2/9 - 1
10-87894029-T-A c.84T>A p.I28= Synonymous 2/9 - 1
10-87894029-T-C c.84T>C p.I28= Synonymous 2/9 - 1
10-87894029-T-G c.84T>G p.I28M Missense 2/9 - 2
10-87894029-T-TA c.84_85insA p.Y29Ifs*15 Frameshift 2/9 - 1
10-87894027-AT-A c.85del p.Y29Ifs*25 Frameshift 2/9 - 1
10-87894030-T-A c.85T>A p.Y29N Missense 2/9 - 1
10-87894030-TA-GC c.85_86delinsGC p.Y29A Missense 2/9 - 3
10-87894030-T-C c.85T>C p.Y29H Missense 2/9 - 2
10-87894031-A-C c.86A>C p.Y29S Missense 2/9 - 9
10-87894031-A-G c.86A>G p.Y29C Missense 2/9 - 2
10-87894031-A-T c.86A>T p.Y29F Missense 2/9 - 2
10-87894032-T-A c.87T>A p.Y29* Nonsense 2/9 - 4
10-87894032-T-G c.87T>G p.Y29* Nonsense 2/9 - 3
10-87894029-TTATCCAAACATTATTGC-T c.88_104del p.P30Gfs*8 Frameshift 2/9 - 1
10-87894033-C-A c.88C>A p.P30T Missense 2/9 - 2
10-87894033-CCA-TGT c.88_90delinsTGT p.P30C Missense 2/9 - 1
10-87894033-CCA-TTT c.88_90delinsTTT p.P30F Missense 2/9 - 1
10-87894033-C-T c.88C>T p.P30S Missense 2/9 - 5
10-87894034-C-A c.89C>A p.P30Q Missense 2/9 - 4
10-87894034-C-G c.89C>G p.P30R Missense 2/9 - 1
10-87894034-C-T c.89C>T p.P30L Missense 2/9 - 3
10-87894036-A-C c.91A>C p.N31H Missense 2/9 - 3
10-87894036-A-T c.91A>T p.N31Y Missense 2/9 - 3
10-87894034-CA-C c.92del p.N31Tfs*23 Frameshift 2/9 - 1
10-87894037-A-G c.92A>G p.N31S Missense 2/9 - 2
10-87894037-A-T c.92A>T p.N31I Missense 2/9 - 1
10-87894038-AC-A c.93del p.N31Kfs*23 Frameshift 2/9 - 1
10-87894038-ACATT-A c.93_96del p.N31Kfs*22 Frameshift 2/9 - 2
10-87894038-C-A c.93C>A p.N31K Missense 2/9 - 4
10-87894038-C-G c.93C>G p.N31K Missense 2/9 - 6
10-87894038-C-T c.93C>T p.N31= Synonymous 2/9 - 2
10-87894040-T-A c.95T>A p.I32N Missense 2/9 - 3
10-87894040-T-C c.95T>C p.I32T Missense 2/9 - 2
10-87894040-T-G c.95T>G p.I32S Missense 2/9 - 2
10-87894040-T-TATCC c.95_96insATCC p.I33Sfs*12 Frameshift 2/9 - 1
10-87894039-AT-A c.96del p.I33Lfs*21 Frameshift 2/9 - 1
10-87894041-T-G c.96T>G p.I32M Missense 2/9 - 1
10-87894038-CATT-C c.97_99del p.I33del InFrameDeletion 2/9 - 30
10-87894042-A-T c.97A>T p.I33F Missense 2/9 - 1
10-87894042-ATT-TAA c.97_99delinsTAA p.I33* Nonsense 2/9 - 1
10-87894042-TA-T c.97del p.I33Lfs*21 Frameshift 2/9 - 1
10-87894043-T-C c.98T>C p.I33T Missense 2/9 - 8
10-87894043-T-G c.98T>G p.I33S Missense 2/9 - 10
10-87894044-T-A c.99T>A p.I33= Synonymous 2/9 - 3
10-87894044-T-C c.99T>C p.I33= Synonymous 2/9 - 4
10-87894044-T-G c.99T>G p.I33M Missense 2/9 - 1
10-87894044-TTG-T c.99_100del p.A34Yfs*9 Frameshift 2/9 - 1
10-87894045-G-A c.100G>A p.A34T Missense 2/9 - 5
10-87894045-G-C c.100G>C p.A34P Missense 2/9 - 2
10-87894045-GCT-CAA c.100_102delinsCAA p.A34Q Missense 2/9 - 1
10-87894045-GC-TG c.100_101delinsTG p.A34C Missense 2/9 - 2
10-87894045-GC-TT c.100_101delinsTT p.A34F Missense 2/9 - 2
10-87894045-GCT-TAA c.100_102delinsTAA p.A34* Nonsense 2/9 - 1
10-87894045-G-T c.100G>T p.A34S Missense 2/9 - 3
10-87894046-C-A c.101C>A p.A34D Missense 2/9 - 12
10-87894046-C-G c.101C>G p.A34G Missense 2/9 - 1
10-87894046-C-T c.101C>T p.A34V Missense 2/9 - 9
10-87894046-CT-AG c.101_102inv p.A34E Missense 2/9 - 1
10-87894046-GCTATGGGATTTCC-G c.101_113del p.A34Vfs*16 Frameshift 2/9 - 1
10-87894047-CT-C c.102del p.M35Wfs*19 Frameshift 2/9 - 1
10-87894047-T-A c.102T>A p.A34= Synonymous 2/9 - 2
10-87894047-T-C c.102T>C p.A34= Synonymous 2/9 - 2
10-87894047-T-G c.102T>G p.A34= Synonymous 2/9 - 2
10-87894047-T-TA c.103dup p.M35Nfs*9 Frameshift 2/9 - 1
10-87894048-A-C c.103A>C p.M35L Missense 2/9 - 2
10-87894048-A-G c.103A>G p.M35V Missense 2/9 - 31
10-87894048-A-T c.103A>T p.M35L Missense 2/9 - 2
10-87894048-AT-GC c.103_104delinsGC p.M35A Missense 2/9 - 3
10-87894049-T-A c.104T>A p.M35K Missense 2/9 - 3
10-87894049-T-C c.104T>C p.M35T Missense 2/9 - 11
10-87894049-T-G c.104T>G p.M35R Missense 2/9 - 10
10-87894050-G-A c.105G>A p.M35I Missense 2/9 - 20
10-87894050-G-C c.105G>C p.M35I Missense 2/9 - 10
10-87894050-GG-AC c.105_106delinsAC p.M35_G36delinsIR MultiAAMissense 2/9 - 2
10-87894050-G-T c.105G>T p.M35I Missense 2/9 - 14
10-87894051-G-A c.106G>A p.G36R Missense 2/9 - 40
10-87894051-G-C c.106G>C p.G36R Missense 2/9 - 38
10-87894051-GG-CT c.106_107delinsCT p.G36L Missense 2/9 - 1
10-87894051-G-T c.106G>T p.G36* Nonsense 2/9 - 18
10-87894052-G-A c.107G>A p.G36E Missense 2/9 - 19
10-87894052-G-GGGCCC c.107_108insGGCCC p.F37Afs*19 Frameshift 2/9 - 1
10-87894052-G-T c.107G>T p.G36V Missense 2/9 - 5
10-87894053-A-ATG c.109_110insGT p.F37Cfs*18 Frameshift 2/9 - 1
10-87894054-T-C c.109T>C p.F37L Missense 2/9 - 2
10-87894056-T-A c.111T>A p.F37L Missense 2/9 - 1
10-87894056-T-G c.111T>G p.F37L Missense 2/9 - 1
10-87894053-ATT-A c.110_111del p.F37Sfs*6 Frameshift 2/9 - 1
10-87894054-T-TTGTAGG c.110_111insGTAGGT p.F37delinsL* Frameshift 2/9 - 1
10-87894055-T-C c.110T>C p.F37S Missense 2/9 - 2
10-87894055-T-G c.110T>G p.F37C Missense 2/9 - 1
10-87894056-T-C c.111T>C p.F37= Synonymous 2/9 - 1
10-87894057-C-A c.112C>A p.P38T Missense 2/9 - 8
10-87894057-CC-AT c.112_113delinsAT p.P38I Missense 2/9 - 10
10-87894057-CC-GA c.112_113delinsGA p.P38D Missense 2/9 - 4
10-87894057-CC-GG c.112_113inv p.P38G Missense 2/9 - 2
10-87894057-CCT-AAG c.112_114delinsAAG p.P38K Missense 2/9 - 3
10-87894057-CC-TT c.112_113delinsTT p.P38F Missense 2/9 - 3
10-87894057-CCT-TAA c.112_114delinsTAA p.P38* Nonsense 2/9 - 1
10-87894057-C-G c.112C>G p.P38A Missense 2/9 - 30
10-87894057-C-T c.112C>T p.P38S Missense 2/9 - 52
10-87894056-TC-T c.113del p.P38Lfs*16 Frameshift 2/9 - 1
10-87894058-C-A c.113C>A p.P38H Missense 2/9 - 11
10-87894058-C-G c.113C>G p.P38R Missense 2/9 - 8
10-87894058-C-T c.113C>T p.P38L Missense 2/9 - 16
10-87894059-T-C c.114T>C p.P38= Synonymous 2/9 - 1
10-87894059-T-G c.114T>G p.P38= Synonymous 2/9 - 1
10-87894060-G-A c.115G>A p.A39T Missense 2/9 - 5
10-87894060-G-C c.115G>C p.A39P Missense 2/9 - 7
10-87894060-GC-AG c.115_116delinsAG p.A39R Missense 2/9 - 2
10-87894060-GCA-TGG c.115_117delinsTGG p.A39W Missense 2/9 - 1
10-87894061-C-A c.116C>A p.A39E Missense 2/9 - 1
10-87894061-CA-AC c.116_117delinsAC p.A39D Missense 2/9 - 2
10-87894061-C-T c.116C>T p.A39V Missense 2/9 - 12
10-87894062-A-AT c.117_118insT p.E40* Nonsense 2/9 - 2
10-87894062-A-C c.117A>C p.A39= Synonymous 2/9 - 1
10-87894062-A-G c.117A>G p.A39= Synonymous 2/9 - 3
10-87894062-A-T c.117A>T p.A39= Synonymous 2/9 - 1
10-87894061-CAG-C c.118_119del p.E40Kfs*3 Frameshift 2/9 - 1
10-87894063-G-A c.118G>A p.E40K Missense 2/9 - 14
10-87894063-GAA-TTT c.118_120delinsTTT p.E40F Missense 2/9 - 1
10-87894063-G-T c.118G>T p.E40* Nonsense 2/9 - 15
10-87894061-CAGAA-C c.120_123del p.E40Dfs*13 Frameshift 2/9 - 3
10-87894065-A-AT c.120_121insT p.R41* Nonsense 2/9 - 1
10-87894065-A-T c.120A>T p.E40D Missense 2/9 - 1
10-87894063-GA-G c.121del p.R41Dfs*13 Frameshift 2/9 - 1
10-87894063-G-GA c.121dup p.R41Kfs*3 Frameshift 2/9 - 1
10-87894064-AAAG-A c.121_123del p.R41del InFrameDeletion 2/9 - 1
10-87894066-A-G c.121A>G p.R41G Missense 2/9 - 5
10-87894066-AGA-CAT c.121_123delinsCAT p.R41H Missense 2/9 - 2
10-87894066-AGA-GAC c.121_123delinsGAC p.R41D Missense 2/9 - 2
10-87894066-AGA-TGG c.121_123delinsTGG p.R41W Missense 2/9 - 1
10-87894066-A-T c.121A>T p.R41* Nonsense 2/9 - 1
10-87894067-G-A c.122G>A p.R41K Missense 2/9 - 1
10-87894067-G-T c.122G>T p.R41I Missense 2/9 - 2
10-87894064-AAAGACTTG-A c.123_130del p.L42Rfs*7 Frameshift 2/9 - 1
10-87894069-C-G c.124C>G p.L42V Missense 2/9 - 8
10-87894069-C-T c.124C>T p.L42F Missense 2/9 - 2
10-87894069-CT-GC c.124_125delinsGC p.L42A Missense 2/9 - 1
10-87894070-T-C c.125T>C p.L42P Missense 2/9 - 4
10-87894070-T-G c.125T>G p.L42R Missense 2/9 - 24
10-87894069-C-CT c.126dup p.E43* Nonsense 2/9 - 1
10-87894071-T-G c.126T>G p.L42= Synonymous 2/9 - 1
10-87894071-T-TTC c.126_127insTC p.E43Sfs*12 Frameshift 2/9 - 1
10-87894070-TTGAAGGCGTATACAGGAACAATA-T c.127_149del p.E43* Frameshift 2/9 - 1
10-87894072-G-A c.127G>A p.E43K Missense 2/9 - 11
10-87894072-G-C c.127G>C p.E43Q Missense 2/9 - 1
10-87894072-G-T c.127G>T p.E43* Nonsense 2/9 - 15
10-87894072-TGA-T c.127_128del p.E43Rfs*8 Frameshift 2/9 - 1
10-87894073-A-C c.128A>C p.E43A Missense 2/9 - 2
10-87894073-A-T c.128A>T p.E43V Missense 2/9 - 2
10-87894073-GAA-G c.128_129del p.E43Gfs*8 Frameshift 2/9 - 1
10-87894072-GAAGGCGTAT-G c.129_137del p.E43_Y46delinsD MultiAAMissense 2/9 - 1
10-87894075-G-T c.130G>T p.G44C Missense 2/9 - 1
10-87894074-AG-A c.131del p.G44Afs*10 Frameshift 2/9 - 2
10-87894076-G-A c.131G>A p.G44D Missense 2/9 - 32
10-87894076-G-T c.131G>T p.G44V Missense 2/9 - 2
10-87894073-AAGGCGTATAC-A c.132_141del p.V45Tfs*6 Frameshift 2/9 - 1
10-87894077-C-A c.132C>A p.G44= Synonymous 2/9 - 7
10-87894077-C-CA c.132_133insA p.V45Sfs*7 Frameshift 2/9 - 1
10-87894077-C-G c.132C>G p.G44= Synonymous 2/9 - 1
10-87894077-C-T c.132C>T p.G44= Synonymous 2/9 - 17
10-87894077-GC-G c.132del p.V45Yfs*9 Frameshift 2/9 - 3
10-87894077-C-CG c.133dup p.V45Gfs*7 Frameshift 2/9 - 1
10-87894078-CG-C c.133del p.V45Yfs*9 Frameshift 2/9 - 5
10-87894078-G-A c.133G>A p.V45I Missense 2/9 - 11
10-87894078-G-C c.133G>C p.V45L Missense 2/9 - 1
10-87894078-G-T c.133G>T p.V45L Missense 2/9 - 2
10-87894078-GTA-ATG c.133_135delinsATG p.V45M Missense 2/9 - 2
10-87894078-GTA-TTT c.133_135delinsTTT p.V45F Missense 2/9 - 1
10-87894078-GT-CA c.133_134delinsCA p.V45Q Missense 2/9 - 1
10-87894079-T-A c.134T>A p.V45E Missense 2/9 - 3
10-87894079-T-C c.134T>C p.V45A Missense 2/9 - 3
10-87894080-A-AATAC c.135_136insATAC p.Y46Ifs*7 Frameshift 2/9 - 1
10-87894078-GTA-G c.136_137del p.Y46Qfs*5 Frameshift 2/9 - 1
10-87894081-T-A c.136T>A p.Y46N Missense 2/9 - 2
10-87894081-TAC-CAA c.136_138delinsCAA p.Y46Q Missense 2/9 - 1
10-87894081-TA-GC c.136_137delinsGC p.Y46A Missense 2/9 - 1
10-87894081-T-C c.136T>C p.Y46H Missense 2/9 - 11
10-87894081-T-G c.136T>G p.Y46D Missense 2/9 - 2
10-87894078-GTATACAGGAACAA-G c.137_149del p.Y46Lfs*4 Frameshift 2/9 - 1
10-87894082-A-C c.137A>C p.Y46S Missense 2/9 - 1
10-87894082-A-G c.137A>G p.Y46C Missense 2/9 - 10
10-87894082-A-T c.137A>T p.Y46F Missense 2/9 - 1
10-87894083-AC-A c.138del p.Y46* Frameshift 2/9 - 4
10-87894083-C-A c.138C>A p.Y46* Nonsense 2/9 - 18
10-87894083-C-CT c.138_139insT p.R47* Nonsense 2/9 - 3
10-87894083-C-G c.138C>G p.Y46* Nonsense 2/9 - 15
10-87894083-C-T c.138C>T p.Y46= Synonymous 2/9 - 1
10-87894084-A-G c.139A>G p.R47G Missense 2/9 - 21
10-87894084-AG-CT c.139_140inv p.R47L Missense 2/9 - 2
10-87894084-AG-GC c.139_140delinsGC p.R47A Missense 2/9 - 4
10-87894084-AGG-CAT c.139_141delinsCAT p.R47H Missense 2/9 - 5
10-87894084-AGG-GAC c.139_141delinsGAC p.R47D Missense 2/9 - 1
10-87894084-AG-TA c.139_140delinsTA p.R47* Nonsense 2/9 - 1
10-87894084-A-T c.139A>T p.R47W Missense 2/9 - 5
10-87894085-G-A c.140G>A p.R47K Missense 2/9 - 23
10-87894085-G-C c.140G>C p.R47T Missense 2/9 - 1
10-87894085-G-T c.140G>T p.R47M Missense 2/9 - 7
10-87894084-AG-A c.141del p.N48Tfs*6 Frameshift 2/9 - 5
10-87894086-G-C c.141G>C p.R47S Missense 2/9 - 8
10-87894086-G-GT c.141_142insT p.N48* Nonsense 2/9 - 3
10-87894086-G-T c.141G>T p.R47S Missense 2/9 - 8
10-87894087-AAC-TAA c.142_144delinsTAA p.N48* Nonsense 2/9 - 1
10-87894087-A-G c.142A>G p.N48D Missense 2/9 - 4
10-87894087-A-T c.142A>T p.N48Y Missense 2/9 - 1
10-87894086-GAACA-G c.143_146del p.N48Ifs*5 Frameshift 2/9 - 1
10-87894086-GA-G c.143del p.N48Tfs*6 Frameshift 2/9 - 6
10-87894088-A-C c.143A>C p.N48T Missense 2/9 - 1
10-87894088-AC-GG c.143_144delinsGG p.N48R Missense 2/9 - 1
10-87894088-A-G c.143A>G p.N48S Missense 2/9 - 4
10-87894088-A-T c.143A>T p.N48I Missense 2/9 - 15
10-87894086-GAAC-G c.144_146del p.N49del InFrameDeletion 2/9 - 1
10-87894089-AC-A c.144del p.N48Kfs*6 Frameshift 2/9 - 1
10-87894089-C-A c.144C>A p.N48K Missense 2/9 - 31
10-87894089-C-CT c.144_145insT p.N49* Nonsense 2/9 - 1
10-87894089-C-G c.144C>G p.N48K Missense 2/9 - 29
10-87894089-C-T c.144C>T p.N48= Synonymous 2/9 - 2
10-87894089-C-CA c.146dup p.N49Kfs*3 Frameshift 2/9 - 2
10-87894091-A-ACTGAAGTTCATGTACTTTGAGTTCCCTCAGCCCTGGGTT c.146_147insCTGAAGTTCATGTACTTTGAGTTCCCTCAGCCCTGGGTT p.N49_I50ins* Nonsense 2/9 - 1
10-87894091-AATATTGAT-A c.146_153del p.N49Rfs*11 Frameshift 2/9 - 1
10-87894091-A-C c.146A>C p.N49T Missense 2/9 - 4
10-87894091-A-G c.146A>G p.N49S Missense 2/9 - 3
10-87894091-A-T c.146A>T p.N49I Missense 2/9 - 1
10-87894091-A-AT c.147dup p.I50Yfs*2 Frameshift 2/9 - 1
10-87894092-T-A c.147T>A p.N49K Missense 2/9 - 1
10-87894091-ATAT-A c.148_150del p.I50del InFrameDeletion 2/9 - 1
10-87894093-A-G c.148A>G p.I50V Missense 2/9 - 2
10-87894093-AT-GC c.148_149delinsGC p.I50A Missense 2/9 - 2
10-87894094-T-A c.149T>A p.I50N Missense 2/9 - 2
10-87894094-T-C c.149T>C p.I50T Missense 2/9 - 7
10-87894093-AT-A c.150del p.I50Mfs*4 Frameshift 2/9 - 2
10-87894096-G-T c.151G>T p.D51Y Missense 2/9 - 1
10-87894096-TG-T c.151del p.D51Mfs*3 Frameshift 2/9 - 1
10-87894097-A-C c.152A>C p.D51A Missense 2/9 - 2
10-87894097-A-G c.152A>G p.D51G Missense 2/9 - 1
10-87894097-A-AT c.153dup p.D52* Nonsense 2/9 - 3
10-87894098-T-A c.153T>A p.D51E Missense 2/9 - 2
10-87894098-T-G c.153T>G p.D51E Missense 2/9 - 2
10-87894098-T-TTG c.153_154insTG p.D52Wfs*3 Frameshift 2/9 - 1
10-87894098-T-TGG c.154_155insGG p.D52Gfs*3 Frameshift 2/9 - 2
10-87894099-G-A c.154G>A p.D52N Missense 2/9 - 5
10-87894094-TTGA-T c.155_157del p.D52del InFrameDeletion 2/9 - 10
10-87894099-G-GA c.155dup p.D52Efs*11 Frameshift 2/9 - 1
10-87894100-A-C c.155A>C p.D52A Missense 2/9 - 2
10-87894100-A-G c.155A>G p.D52G Missense 2/9 - 4
10-87894100-GA-G c.155del p.D52Vfs*2 Frameshift 2/9 - 1
10-87894101-ATGT-A c.156_158del p.D52_V53delinsE MultiAAMissense 2/9 - 1
10-87894101-T-A c.156T>A p.D52E Missense 2/9 - 2
10-87894101-T-C c.156T>C p.D52= Synonymous 2/9 - 2
10-87894101-T-G c.156T>G p.D52E Missense 2/9 - 2
10-87894101-T-TC c.156_157insC p.V53Rfs*10 Frameshift 2/9 - 3
10-87894102-G-A c.157G>A p.V53I Missense 2/9 - 4
10-87894102-G-GC c.157_158insC p.V53Afs*10 Frameshift 2/9 - 1
10-87894102-G-T c.157G>T p.V53L Missense 2/9 - 1
10-87894103-T-A c.158T>A p.V53E Missense 2/9 - 3
10-87894103-T-C c.158T>C p.V53A Missense 2/9 - 7
10-87894103-T-G c.158T>G p.V53G Missense 2/9 - 1
10-87894103-T-TATAC c.159_160insTACA p.V54Yfs*10 Frameshift 2/9 - 1
10-87894101-TGTA-T c.160_162del p.V54del InFrameDeletion 2/9 - 4
10-87894104-A-AG c.160dup p.V54Gfs*9 Frameshift 2/9 - 1
10-87894105-G-A c.160G>A p.V54I Missense 2/9 - 3
10-87894105-G-C c.160G>C p.V54L Missense 2/9 - 1
10-87894105-G-T c.160G>T p.V54L Missense 2/9 - 1
10-87894105-GTA-ATG c.160_162delinsATG p.V54M Missense 2/9 - 3
10-87894106-T-A c.161T>A p.V54E Missense 2/9 - 2
10-87894106-T-C c.161T>C p.V54A Missense 2/9 - 5
10-87894107-A-AC c.162_163insC p.R55Qfs*8 SpliceDonorInsertion 2/9 - 1
10-87894107-A-AG c.162_163insG p.R55Efs*8 SpliceDonorInsertion 2/9 - 1
10-87894107-A-AT c.162_163insT p.R55* SpliceDonorInsertion 2/9 - 10
10-87894107-A-C c.162A>C p.V54= Synonymous 2/9 - 1
10-87894107-A-G c.162A>G p.V54= Synonymous 2/9 - 1
10-87894107-A-T c.162A>T p.V54= Synonymous 2/9 - 1
10-87894106-T-TA c.163dup p.R55Kfs*8 SpliceDonorInsertion 2/9 - 1
10-87894108-A-G c.163A>G p.R55G Missense 2/9 - 6
10-87894108-AG-CT c.163_164inv p.R55L Missense 2/9 - 1
10-87894108-A-T c.163A>T p.R55W Missense 2/9 - 2
10-87894109-G-A c.164G>A p.R55K Missense 2/9 - 2
10-87894109-G-C c.164G>C p.R55T Missense 2/9 - 1
10-87894109-G-T c.164G>T p.R55M Missense 2/9 - 2
10-87894104-AGTAAG-A c.164+1_164+5del - SpliceDonorDeletion - 2/8 2
10-87894108-AG-A c.164+1del - IntronicDeletion - 2/8 1
10-87894110-G-A c.164+1G>A - IntronicSNV - 2/8 7
10-87894110-G-C c.164+1G>C - IntronicSNV - 2/8 2
10-87894110-G-T c.164+1G>T - IntronicSNV - 2/8 6
10-87894111-T-A c.164+2T>A - IntronicSNV - 2/8 1
10-87894111-T-C c.164+2T>C - IntronicSNV - 2/8 1
10-87894135-C-G c.164+26C>G - IntronicSNV - 2/8 1
10-87894332-T-C c.164+223T>C - IntronicSNV - 2/8 1
10-87895144-TA-T c.164+1044del - IntronicDeletion - 2/8 1
10-87895479-A-G c.164+1370A>G - IntronicSNV - 2/8 1
10-87895485-C-CAA c.164+1381_164+1382dup - IntronicInsertion - 2/8 1
10-87895485-C-CA c.164+1382dup - IntronicInsertion - 2/8 1
10-87896321-A-T c.164+2212A>T - IntronicSNV - 2/8 1
10-87896320-TA-T c.164+2220del - IntronicDeletion - 2/8 1
10-87896399-A-C c.164+2290A>C - IntronicSNV - 2/8 1
10-87896535-G-T c.164+2426G>T - IntronicSNV - 2/8 1
10-87897393-C-A c.164+3284C>A - IntronicSNV - 2/8 20
10-87897393-C-T c.164+3284C>T - IntronicSNV - 2/8 20
10-87897408-G-C c.164+3299G>C - IntronicSNV - 2/8 1
10-87905433-A-C c.164+11324A>C - IntronicSNV - 2/8 1
10-87905433-A-T c.164+11324A>T - IntronicSNV - 2/8 1
10-87905755-G-A c.164+11646G>A - IntronicSNV - 2/8 1
10-87905845-AT-A c.164+11743del - IntronicDeletion - 2/8 1
10-87908417-G-C c.164+14308G>C - IntronicSNV - 2/8 1
10-87908470-G-A c.164+14361G>A - IntronicSNV - 2/8 1
10-87913812-C-T c.165-11701C>T - IntronicSNV - 2/8 2
10-87914400-T-G c.165-11113T>G - IntronicSNV - 2/8 10
10-87915539-A-G c.165-9974A>G - IntronicSNV - 2/8 7
10-87915833-G-C c.165-9680G>C - IntronicSNV - 2/8 2
10-87917350-A-G c.165-8163A>G - IntronicSNV - 2/8 2
10-87917350-A-T c.165-8163A>T - IntronicSNV - 2/8 2
10-87917630-T-C c.165-7883T>C - IntronicSNV - 2/8 1
10-87918539-A-G c.165-6974A>G - IntronicSNV - 2/8 1
10-87920874-T-C c.165-4639T>C - IntronicSNV - 2/8 1
10-87921416-G-A c.165-4097G>A - IntronicSNV - 2/8 1
10-87921416-G-C c.165-4097G>C - IntronicSNV - 2/8 1
10-87921416-G-T c.165-4097G>T - IntronicSNV - 2/8 1
10-87923076-G-A c.165-2437G>A - IntronicSNV - 2/8 1
10-87923076-G-C c.165-2437G>C - IntronicSNV - 2/8 1
10-87923076-G-T c.165-2437G>T - IntronicSNV - 2/8 1
10-87924457-C-A c.165-1056C>A - IntronicSNV - 2/8 2
10-87925511-A-G c.165-2A>G - IntronicSNV - 2/8 1
10-87925511-A-T c.165-2A>T - IntronicSNV - 2/8 1
10-87894108-A-C c.163A>C p.R55= Synonymous 2/9 - 1
10-87925511-A-AG c.165dup p.F56Vfs*7 SpliceAcceptorInsertion 3/9 - 5
10-87925511-AG-A c.165del p.R55Sfs*44 Frameshift 3/9 - 1
10-87925513-G-A c.165G>A p.R55= Synonymous 3/9 - 1
10-87925513-G-C c.165G>C p.R55S Missense 3/9 - 2
10-87925513-G-GA c.165_166insA p.F56Ifs*7 SpliceAcceptorInsertion 3/9 - 3
10-87925513-G-GC c.165_166insC p.F56Lfs*7 SpliceAcceptorInsertion 3/9 - 3
10-87925513-GGTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCTGTAAGTATGTTTTC-G c.165_209+14del - Multi:SpliceAcceptorDeletion,CdsStopDeletion 3/9 3/8 4
10-87925513-G-T c.165G>T p.R55S Missense 3/9 - 4
10-87925514-T-A c.166T>A p.F56I Missense 3/9 - 2
10-87925514-T-C c.166T>C p.F56L Missense 3/9 - 1
10-87925514-T-G c.166T>G p.F56V Missense 3/9 - 15
10-87925514-TT-GC c.166_167delinsGC p.F56A Missense 3/9 - 2
10-87925516-T-A c.168T>A p.F56L Missense 3/9 - 1
10-87925516-T-G c.168T>G p.F56L Missense 3/9 - 1
10-87925512-GGTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCT-G c.167_209+2del - Unclassified 3/9 3/8 1
10-87925513-GTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCTGTAAGTATGTTTTCT-G c.167_209+16del - Unclassified 3/9 3/8 1
10-87925515-T-C c.167T>C p.F56S Missense 3/9 - 1
10-87925515-T-G c.167T>G p.F56C Missense 3/9 - 3
10-87925515-TT-AA c.167_168inv p.F56* Nonsense 3/9 - 1
10-87925517-T-G c.169T>G p.L57V Missense 3/9 - 3
10-87925517-T-TA c.169_170insA p.L57Yfs*6 Frameshift 3/9 - 1
10-87925517-TT-CA c.169_170delinsCA p.L57Q Missense 3/9 - 4
10-87925517-TTG-AAC c.169_171delinsAAC p.L57N Missense 3/9 - 1
10-87925517-TTG-CAACAA c.169_171delinsCAACAA p.L57delinsQQ MultiAAMissense 3/9 - 1
10-87925517-TTTG-T c.169_171del p.L57del InFrameDeletion 3/9 - 2
10-87925513-G-GT c.170dup p.L57Ffs*6 Frameshift 3/9 - 9
10-87925513-GT-G c.170del p.L57Wfs*42 Frameshift 3/9 - 9
10-87925518-T-A c.170T>A p.L57* Nonsense 3/9 - 8
10-87925518-T-C c.170T>C p.L57S Missense 3/9 - 7
10-87925518-T-G c.170T>G p.L57W Missense 3/9 - 13
10-87925518-TTGG-T c.170_172del p.L57_D58delinsY MultiAAMissense 3/9 - 1
10-87925519-G-C c.171G>C p.L57F Missense 3/9 - 1
10-87925519-G-T c.171G>T p.L57F Missense 3/9 - 1
10-87925520-G-A c.172G>A p.D58N Missense 3/9 - 1
10-87925520-GA-TG c.172_173delinsTG p.D58C Missense 3/9 - 1
10-87925520-GGAT-G c.172_174del p.D58del InFrameDeletion 3/9 - 1
10-87925520-G-T c.172G>T p.D58Y Missense 3/9 - 3
10-87925521-A-C c.173A>C p.D58A Missense 3/9 - 1
10-87925521-A-G c.173A>G p.D58G Missense 3/9 - 2
10-87925521-A-T c.173A>T p.D58V Missense 3/9 - 1
10-87925522-ATT-A c.174_175del p.S59Kfs*3 Frameshift 3/9 - 1
10-87925523-T-C c.175T>C p.S59P Missense 3/9 - 3
10-87925523-TC-GA c.175_176inv p.S59E Missense 3/9 - 1
10-87925523-T-G c.175T>G p.S59A Missense 3/9 - 1
10-87925524-C-A c.176C>A p.S59* Nonsense 3/9 - 29
10-87925524-C-G c.176C>G p.S59* Nonsense 3/9 - 35
10-87925524-C-T c.176C>T p.S59L Missense 3/9 - 2
10-87925525-A-AT c.177_178insT p.K60* Nonsense 3/9 - 1
10-87925525-A-G c.177A>G p.S59= Synonymous 3/9 - 1
10-87925523-TCAAAGCATAAAAAC-T c.178_191del p.K60Lfs*9 Frameshift 3/9 - 1
10-87925526-AA-GC c.178_179delinsGC p.K60A Missense 3/9 - 1
10-87925526-A-G c.178A>G p.K60E Missense 3/9 - 1
10-87925526-A-T c.178A>T p.K60* Nonsense 3/9 - 1
10-87925524-CA-C c.179del p.K60Sfs*39 Frameshift 3/9 - 3
10-87925527-A-C c.179A>C p.K60T Missense 3/9 - 2
10-87925527-A-G c.179A>G p.K60R Missense 3/9 - 3
10-87925528-G-C c.180G>C p.K60N Missense 3/9 - 1
10-87925528-G-T c.180G>T p.K60N Missense 3/9 - 2
10-87925529-C-A c.181C>A p.H61N Missense 3/9 - 5
10-87925529-CA-GC c.181_182delinsGC p.H61A Missense 3/9 - 2
10-87925529-C-G c.181C>G p.H61D Missense 3/9 - 13
10-87925529-C-T c.181C>T p.H61Y Missense 3/9 - 7
10-87925529-GCATAAAA-G c.181_187del p.H61Tfs*36 Frameshift 3/9 - 1
10-87925529-GC-G c.181del p.H61Ifs*38 Frameshift 3/9 - 1
10-87925530-A-C c.182A>C p.H61P Missense 3/9 - 7
10-87925530-A-G c.182A>G p.H61R Missense 3/9 - 52
10-87925530-A-T c.182A>T p.H61L Missense 3/9 - 18
10-87925530-A-AT c.183dup p.K62* Nonsense 3/9 - 3
10-87925531-ATAAAAACCATT-A c.183_193del p.H61Qfs*9 Frameshift 3/9 - 1
10-87925531-T-A c.183T>A p.H61Q Missense 3/9 - 4
10-87925531-T-G c.183T>G p.H61Q Missense 3/9 - 4
10-87925532-AA-GC c.184_185delinsGC p.K62A Missense 3/9 - 1
10-87925532-A-C c.184A>C p.K62Q Missense 3/9 - 2
10-87925532-A-G c.184A>G p.K62E Missense 3/9 - 1
10-87925532-A-T c.184A>T p.K62* Nonsense 3/9 - 6
10-87925529-CATAAAAACCATTACAAG-C c.185_201del p.K62Ifs*6 Frameshift 3/9 - 1
10-87925533-A-C c.185A>C p.K62T Missense 3/9 - 2
10-87925533-A-G c.185A>G p.K62R Missense 3/9 - 13
10-87925533-A-T c.185A>T p.K62I Missense 3/9 - 1
10-87925531-TAAA-T c.186_188del p.K62del InFrameDeletion 3/9 - 1
10-87925532-AAAAACCATTACAAGATAT-A c.186_203del p.K62_Y68delinsN MultiAAMissense 3/9 - 1
10-87925534-A-AT c.186_187insT p.N63* Nonsense 3/9 - 3
10-87925534-A-C c.186A>C p.K62N Missense 3/9 - 2
10-87925534-A-G c.186A>G p.K62= Synonymous 3/9 - 1
10-87925534-A-T c.186A>T p.K62N Missense 3/9 - 2
10-87925531-TAA-T c.187_188del p.N63Pfs*10 Frameshift 3/9 - 2
10-87925535-AA-GC c.187_188delinsGC p.N63A Missense 3/9 - 1
10-87925535-A-T c.187A>T p.N63Y Missense 3/9 - 1
10-87925531-TA-T c.188del p.N63Tfs*36 Frameshift 3/9 - 11
10-87925531-T-TA c.188dup p.N63Kfs*11 Frameshift 3/9 - 1
10-87925536-A-AACCATTAC c.188_189insACCATTAC p.N63Kfs*39 Frameshift 3/9 - 1
10-87925536-A-C c.188A>C p.N63T Missense 3/9 - 1
10-87925536-A-G c.188A>G p.N63S Missense 3/9 - 1
10-87925537-C-A c.189C>A p.N63K Missense 3/9 - 2
10-87925535-AACCATT-A c.190_195del p.H64_Y65del InFrameDeletion 3/9 - 5
10-87925536-AC-A c.190del p.H64Ifs*35 Frameshift 3/9 - 1
10-87925538-CA-GC c.190_191delinsGC p.H64A Missense 3/9 - 1
10-87925538-C-G c.190C>G p.H64D Missense 3/9 - 2
10-87925538-C-T c.190C>T p.H64Y Missense 3/9 - 5
10-87925539-A-C c.191A>C p.H64P Missense 3/9 - 1
10-87925539-A-T c.191A>T p.H64L Missense 3/9 - 2
10-87925540-T-A c.192T>A p.H64Q Missense 3/9 - 1
10-87925540-T-G c.192T>G p.H64Q Missense 3/9 - 1
10-87925540-TTA-ATC c.192_194delinsATC p.H64_Y65delinsQS MultiAAMissense 3/9 - 1
10-87925539-AT-A c.193del p.Y65Tfs*34 Frameshift 3/9 - 1
10-87925541-T-A c.193T>A p.Y65N Missense 3/9 - 2
10-87925541-TA-CAAAG c.193_194delinsCAAAG p.Y65delinsQS MultiAAMissense 3/9 - 1
10-87925541-TAC-CAA c.193_195delinsCAA p.Y65Q Missense 3/9 - 1
10-87925541-T-C c.193T>C p.Y65H Missense 3/9 - 2
10-87925541-T-G c.193T>G p.Y65D Missense 3/9 - 11
10-87925541-TTA-T c.193_194del p.Y65Qfs*8 Frameshift 3/9 - 1
10-87925542-A-C c.194A>C p.Y65S Missense 3/9 - 2
10-87925542-A-G c.194A>G p.Y65C Missense 3/9 - 13
10-87925543-C-A c.195C>A p.Y65* Nonsense 3/9 - 20
10-87925543-C-CT c.195_196insT p.K66* Nonsense 3/9 - 3
10-87925543-C-G c.195C>G p.Y65* Nonsense 3/9 - 20
10-87925544-A-C c.196A>C p.K66Q Missense 3/9 - 2
10-87925544-A-G c.196A>G p.K66E Missense 3/9 - 7
10-87925544-A-T c.196A>T p.K66* Nonsense 3/9 - 1
10-87925545-A-C c.197A>C p.K66T Missense 3/9 - 1
10-87925545-A-G c.197A>G p.K66R Missense 3/9 - 5
10-87925545-A-T c.197A>T p.K66M Missense 3/9 - 1
10-87925546-G-A c.198G>A p.K66= Synonymous 3/9 - 4
10-87925546-G-C c.198G>C p.K66N Missense 3/9 - 12
10-87925546-G-T c.198G>T p.K66N Missense 3/9 - 15
10-87925547-A-C c.199A>C p.I67L Missense 3/9 - 1
10-87925547-A-T c.199A>T p.I67L Missense 3/9 - 1
10-87925547-GATATACAATCTGTAAGTATGT-G c.199_209+10del - SpliceDonorDeletion 3/9 3/8 1
10-87925548-T-A c.200T>A p.I67K Missense 3/9 - 10
10-87925548-T-C c.200T>C p.I67T Missense 3/9 - 8
10-87925548-T-G c.200T>G p.I67R Missense 3/9 - 6
10-87925548-T-TA c.201dup p.Y68Ifs*6 Frameshift 3/9 - 2
10-87925549-A-C c.201A>C p.I67= Synonymous 3/9 - 3
10-87925549-A-G c.201A>G p.I67M Missense 3/9 - 3
10-87925549-A-T c.201A>T p.I67= Synonymous 3/9 - 3
10-87925549-TA-T c.201del p.Y68Tfs*31 Frameshift 3/9 - 1
10-87925546-GAT-G c.202_203del p.Y68Qfs*5 Frameshift 3/9 - 1
10-87925550-AT-A c.202del p.Y68Tfs*31 Frameshift 3/9 - 1
10-87925550-T-A c.202T>A p.Y68N Missense 3/9 - 19
10-87925550-TA-CG c.202_203delinsCG p.Y68R Missense 3/9 - 1
10-87925550-T-C c.202T>C p.Y68H Missense 3/9 - 81
10-87925550-T-G c.202T>G p.Y68D Missense 3/9 - 15
10-87925551-A-C c.203A>C p.Y68S Missense 3/9 - 5
10-87925551-A-G c.203A>G p.Y68C Missense 3/9 - 30
10-87925551-A-T c.203A>T p.Y68F Missense 3/9 - 2
10-87925551-TA-T c.203del p.Y68Sfs*31 Frameshift 3/9 - 1
10-87925550-TACA-T c.204_206del p.N69del InFrameDeletion 3/9 - 1
10-87925552-AC-A c.204del p.Y68* Frameshift 3/9 - 1
10-87925552-C-A c.204C>A p.Y68* Nonsense 3/9 - 14
10-87925552-C-G c.204C>G p.Y68* Nonsense 3/9 - 13
10-87925553-AA-GC c.205_206delinsGC p.N69A Missense 3/9 - 1
10-87925553-A-G c.205A>G p.N69D Missense 3/9 - 4
10-87925552-CA-C c.206del p.N69Ifs*30 Frameshift 3/9 - 2
10-87925552-C-CA c.206dup p.N69Kfs*5 Frameshift 3/9 - 1
10-87925554-A-C c.206A>C p.N69T Missense 3/9 - 1
10-87925554-A-G c.206A>G p.N69S Missense 3/9 - 4
10-87925554-A-T c.206A>T p.N69I Missense 3/9 - 1
10-87925554-A-AT c.207dup p.L70Sfs*4 SpliceDonorInsertion 3/9 - 3
10-87925554-A-ATG c.207_208insGT p.L70Vfs*30 SpliceDonorInsertion 3/9 - 1
10-87925555-T-TA c.207_208insA p.L70Tfs*4 SpliceDonorInsertion 3/9 - 3
10-87925555-T-TAC c.207_208insAC p.L70Tfs*30 SpliceDonorInsertion 3/9 - 1
10-87925555-T-TG c.207_208insG p.L70Afs*4 SpliceDonorInsertion 3/9 - 3
10-87925554-ATC-A c.208_209del p.A72* SpliceDonorDeletion 3/9 - 1
10-87925554-ATCTGTAAGTATGTTTTCTTATTTGTATGCTTGCAAATATCTTCTAAAACAACTATTAAG-A c.208_209+57del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/9 3/8 1
10-87925555-T-TC c.208dup p.L70Pfs*4 SpliceDonorInsertion 3/9 - 3
10-87925556-C-A c.208C>A p.L70I Missense 3/9 - 2
10-87925556-C-G c.208C>G p.L70V Missense 3/9 - 10
10-87925556-C-T c.208C>T p.L70F Missense 3/9 - 3
10-87925556-CT-GC c.208_209delinsGC p.L70A Missense 3/9 - 1
10-87925556-TCTG-T c.208_209+1del - SpliceDonorDeletion 3/9 3/8 1
10-87925556-C-CT c.209dup p.C71Lfs*3 SpliceDonorInsertion - - 1
10-87925557-CT-C c.209del p.C71Vfs*28 Frameshift 3/9 - 1
10-87925557-T-A c.209T>A p.L70H Missense 3/9 - 7
10-87925557-T-C c.209T>C p.L70P Missense 3/9 - 20
10-87925557-T-G c.209T>G p.L70R Missense 3/9 - 6
10-87925556-CTG-C c.209+1_209+2del - SpliceDonorDeletion - 3/8 10
10-87925558-G-A c.209+1G>A - IntronicSNV - 3/8 4
10-87925558-G-C c.209+1G>C - IntronicSNV - 3/8 3
10-87925558-G-T c.209+1G>T - IntronicSNV - 3/8 12
10-87925558-TG-T c.209+1del - IntronicDeletion - 3/8 3
10-87925558-G-GT c.209+2dup - IntronicInsertion - 3/8 1
10-87925559-GT-G c.209+2del - IntronicDeletion - 3/8 2
10-87925559-T-A c.209+2T>A - IntronicSNV - 3/8 2
10-87925559-T-C c.209+2T>C - IntronicSNV - 3/8 5
10-87925560-A-C c.209+3A>C - IntronicSNV - 3/8 1
10-87925560-A-T c.209+3A>T - IntronicSNV - 3/8 3
10-87925560-TAAG-T c.209+3_209+5del - IntronicDeletion - 3/8 1
10-87925557-TGTAA-T c.209+4_209+7del - SpliceDonorDeletion - 3/8 14
10-87925561-A-G c.209+4A>G - IntronicSNV - 3/8 1
10-87925562-G-A c.209+5G>A - IntronicSNV - 3/8 12
10-87925562-G-C c.209+5G>C - IntronicSNV - 3/8 1
10-87925562-G-T c.209+5G>T - IntronicSNV - 3/8 1
10-87925563-T-C c.209+6T>C - IntronicSNV - 3/8 1
10-87925571-C-G c.209+14C>G - IntronicSNV - 3/8 1
10-87925571-C-T c.209+14C>T - IntronicSNV - 3/8 1
10-87925602-A-G c.209+45A>G - IntronicSNV - 3/8 1
10-87925886-T-C c.209+329T>C - IntronicSNV - 3/8 6
10-87926752-G-T c.209+1195G>T - IntronicSNV - 3/8 3
10-87929564-G-A c.210-1482G>A - IntronicSNV - 3/8 6
10-87931007-A-G c.210-39A>G - IntronicSNV - 3/8 1
10-87931044-A-G c.210-2A>G - IntronicSNV - 3/8 1
10-87931043-TAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAG-T c.210_253del p.A72Tfs*5 Unclassified 4/9 - 1
10-87931046-GTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTA-G c.210_253+15del - Unclassified 4/9 4/8 1
10-87931046-T-TA c.210_211insA p.C71Mfs*3 SpliceAcceptorInsertion 4/9 - 2
10-87931046-T-TC c.210_211insC p.C71Lfs*3 SpliceAcceptorInsertion 4/9 - 2
10-87931046-T-TG c.210_211insG p.C71Vfs*3 SpliceAcceptorInsertion 4/9 - 2
10-87931045-G-GT c.211dup p.C71Lfs*3 SpliceAcceptorInsertion 4/9 - 2
10-87931045-GT-G c.211del p.C71Vfs*28 Frameshift 4/9 - 2
10-87931047-T-A c.211T>A p.C71S Missense 4/9 - 6
10-87931047-T-G c.211T>G p.C71G Missense 4/9 - 1
10-87931047-TG-AC c.211_212delinsAC p.C71T Missense 4/9 - 1
10-87931047-TG-GC c.211_212delinsGC p.C71A Missense 4/9 - 3
10-87931047-T-TA c.211_212insA p.C71* SpliceAcceptorInsertion 4/9 - 1
10-87931048-G-C c.212G>C p.C71S Missense 4/9 - 6
10-87931048-G-A c.212G>A p.C71Y Missense 4/9 - 35
10-87931048-G-T c.212G>T p.C71F Missense 4/9 - 8
10-87931046-TTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTAC-T c.214_253+19del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 4/9 4/8 1
10-87931049-GT-G c.213del p.C71Wfs*28 Frameshift 4/9 - 2
10-87931049-T-A c.213T>A p.C71* Nonsense 4/9 - 7
10-87931049-T-G c.213T>G p.C71W Missense 4/9 - 1
10-87931049-T-TAC c.213_214insAC p.A72Tfs*28 Frameshift 4/9 - 1
10-87931050-G-A c.214G>A p.A72T Missense 4/9 - 2
10-87931050-G-C c.214G>C p.A72P Missense 4/9 - 1
10-87931050-GC-TG c.214_215delinsTG p.A72C Missense 4/9 - 4
10-87931050-GCT-TAA c.214_216delinsTAA p.A72* Nonsense 4/9 - 2
10-87931050-GCT-TGG c.214_216delinsTGG p.A72W Missense 4/9 - 2
10-87931050-G-T c.214G>T p.A72S Missense 4/9 - 2
10-87931050-TGC-T c.214_215del p.A72* Frameshift 4/9 - 1
10-87931051-C-A c.215C>A p.A72D Missense 4/9 - 3
10-87931051-C-G c.215C>G p.A72G Missense 4/9 - 2
10-87931051-C-T c.215C>T p.A72V Missense 4/9 - 4
10-87931051-CT-AG c.215_216inv p.A72E Missense 4/9 - 2
10-87931051-GCT-G c.215_216del p.A72Gfs*5 Frameshift 4/9 - 1
10-87931051-C-CT c.216dup p.E73* Nonsense 4/9 - 7
10-87931052-CTGAA-C c.216_219del p.E73Dfs*25 Frameshift 4/9 - 1
10-87931052-T-A c.216T>A p.A72= Synonymous 4/9 - 2
10-87931052-T-C c.216T>C p.A72= Synonymous 4/9 - 3
10-87931052-T-G c.216T>G p.A72= Synonymous 4/9 - 2
10-87931053-G-A c.217G>A p.E73K Missense 4/9 - 7
10-87931053-GA-AG c.217_218delinsAG p.E73R Missense 4/9 - 1
10-87931053-GA-AT c.217_218delinsAT p.E73I Missense 4/9 - 1
10-87931053-GA-CT c.217_218delinsCT p.E73L Missense 4/9 - 1
10-87931053-G-C c.217G>C p.E73Q Missense 4/9 - 4
10-87931053-G-GGAAA c.217_218insGAAA p.E73Gfs*6 Frameshift 4/9 - 1
10-87931053-G-T c.217G>T p.E73* Nonsense 4/9 - 9
10-87931053-TGA-T c.217_218del p.E73Kfs*4 Frameshift 4/9 - 2
10-87931053-TG-T c.217del p.E73Kfs*26 Frameshift 4/9 - 1
10-87931054-A-C c.218A>C p.E73A Missense 4/9 - 2
10-87931054-A-G c.218A>G p.E73G Missense 4/9 - 1
10-87931054-A-T c.218A>T p.E73V Missense 4/9 - 3
10-87931052-TGAAA-T c.219_222del p.E73Dfs*25 Frameshift 4/9 - 9
10-87931053-GAA-G c.219_220del p.R74Tfs*3 Frameshift 4/9 - 6
10-87931055-A-AT c.219_220insT p.R74* Nonsense 4/9 - 1
10-87931055-A-C c.219A>C p.E73D Missense 4/9 - 4
10-87931055-A-G c.219A>G p.E73= Synonymous 4/9 - 2
10-87931055-A-T c.219A>T p.E73D Missense 4/9 - 5
10-87931053-GA-G c.220del p.R74Dfs*25 Frameshift 4/9 - 3
10-87931053-G-GA c.220dup p.R74Kfs*4 Frameshift 4/9 - 1
10-87931056-AGA-GAC c.220_222delinsGAC p.R74D Missense 4/9 - 2
10-87931056-AGA-TGG c.220_222delinsTGG p.R74W Missense 4/9 - 1
10-87931056-AGA-TGT c.220_222delinsTGT p.R74C Missense 4/9 - 1
10-87931056-AG-CA c.220_221delinsCA p.R74Q Missense 4/9 - 1
10-87931056-AG-CC c.220_221delinsCC p.R74P Missense 4/9 - 1
10-87931056-AG-GA c.220_221delinsGA p.R74E Missense 4/9 - 2
10-87931056-AG-GC c.220_221delinsGC p.R74A Missense 4/9 - 1
10-87931056-A-T c.220A>T p.R74* Nonsense 4/9 - 3
10-87931055-AAG-A c.221_222del p.R74Tfs*3 Frameshift 4/9 - 2
10-87931055-AAGACATT-A c.221_227del p.R74Mfs*23 Frameshift 4/9 - 1
10-87931057-G-C c.221G>C p.R74T Missense 4/9 - 10
10-87931057-G-T c.221G>T p.R74I Missense 4/9 - 6
10-87931056-A-C c.220A>C p.R74= Synonymous 4/9 - 1
10-87931058-A-G c.222A>G p.R74= Synonymous 4/9 - 2
10-87931058-A-T c.222A>T p.R74S Missense 4/9 - 2
10-87931057-GAC-G c.223_224del p.H75Lfs*2 Frameshift 4/9 - 1
10-87931059-C-A c.223C>A p.H75N Missense 4/9 - 4
10-87931059-C-CA c.224dup p.H75Qfs*3 Frameshift 4/9 - 1
10-87931060-A-C c.224A>C p.H75P Missense 4/9 - 1
10-87931060-A-G c.224A>G p.H75R Missense 4/9 - 1
10-87931060-CATTAT-C c.224_228del p.H75Rfs*6 Frameshift 4/9 - 1
10-87931056-AGACATTAT-A c.225_232del p.Y76Rfs*4 Frameshift 4/9 - 1
10-87931061-T-A c.225T>A p.H75Q Missense 4/9 - 1
10-87931061-T-G c.225T>G p.H75Q Missense 4/9 - 1
10-87931059-CATT-C c.226_228del p.Y76del InFrameDeletion 4/9 - 4
10-87931060-AT-A c.226del p.Y76Mfs*23 Frameshift 4/9 - 2
10-87931062-T-C c.226T>C p.Y76H Missense 4/9 - 3
10-87931061-TTA-T c.227_228del p.Y76* Frameshift 4/9 - 9
10-87931062-T-TA c.227dup p.Y76* Nonsense 4/9 - 3
10-87931063-A-G c.227A>G p.Y76C Missense 4/9 - 4
10-87931063-A-T c.227A>T p.Y76F Missense 4/9 - 1
10-87931063-ATG-TTA c.227_229delinsTTA p.Y76_D77delinsFN MultiAAMissense 4/9 - 1
10-87931063-TA-T c.227del p.Y76Lfs*23 Frameshift 4/9 - 1
10-87931063-A-AT c.228dup p.D77* Nonsense 4/9 - 2
10-87931064-T-A c.228T>A p.Y76* Nonsense 4/9 - 12
10-87931064-T-C c.228T>C p.Y76= Synonymous 4/9 - 2
10-87931064-T-G c.228T>G p.Y76* Nonsense 4/9 - 12
10-87931065-G-A c.229G>A p.D77N Missense 4/9 - 2
10-87931065-G-C c.229G>C p.D77H Missense 4/9 - 1
10-87931065-G-T c.229G>T p.D77Y Missense 4/9 - 1
10-87931066-A-C c.230A>C p.D77A Missense 4/9 - 2
10-87931066-A-G c.230A>G p.D77G Missense 4/9 - 2
10-87931066-A-T c.230A>T p.D77V Missense 4/9 - 4
10-87931067-C-T c.231C>T p.D77= Synonymous 4/9 - 3
10-87931068-A-G c.232A>G p.T78A Missense 4/9 - 8
10-87931069-C-A c.233C>A p.T78N Missense 4/9 - 1
10-87931069-CC-ATT c.233_234delinsATT p.T78Nfs*5 Frameshift 4/9 - 1
10-87931069-CC-GG c.233_234inv p.T78R Missense 4/9 - 1
10-87931069-C-G c.233C>G p.T78S Missense 4/9 - 1
10-87931069-C-T c.233C>T p.T78I Missense 4/9 - 3
10-87931070-C-A c.234C>A p.T78= Synonymous 4/9 - 4
10-87931070-C-G c.234C>G p.T78= Synonymous 4/9 - 1
10-87931070-C-T c.234C>T p.T78= Synonymous 4/9 - 10
10-87931070-C-CG c.235dup p.A79Gfs*4 Frameshift 4/9 - 1
10-87931071-G-A c.235G>A p.A79T Missense 4/9 - 50
10-87931071-G-T c.235G>T p.A79S Missense 4/9 - 7
10-87931072-C-A c.236C>A p.A79D Missense 4/9 - 2
10-87931072-CC-AG c.236_237delinsAG p.A79E Missense 4/9 - 1
10-87931072-C-T c.236C>T p.A79V Missense 4/9 - 2
10-87931073-C-A c.237C>A p.A79= Synonymous 4/9 - 2
10-87931073-C-CT c.237_238insT p.K80* Nonsense 4/9 - 1
10-87931073-C-G c.237C>G p.A79= Synonymous 4/9 - 2
10-87931073-C-T c.237C>T p.A79= Synonymous 4/9 - 2
10-87931074-AA-GC c.238_239delinsGC p.K80A Missense 4/9 - 1
10-87931074-A-C c.238A>C p.K80Q Missense 4/9 - 3
10-87931074-A-G c.238A>G p.K80E Missense 4/9 - 4
10-87931074-A-T c.238A>T p.K80* Nonsense 4/9 - 7
10-87931072-CCAAATTTAATTG-C c.239_250del p.K80_C83del InFrameDeletion 4/9 - 1
10-87931075-A-C c.239A>C p.K80T Missense 4/9 - 2
10-87931075-A-G c.239A>G p.K80R Missense 4/9 - 4
10-87931073-C-CA c.240dup p.F81Ifs*2 Frameshift 4/9 - 1
10-87931076-AAT-A c.240_241del p.K80Nfs*2 Frameshift 4/9 - 4
10-87931076-A-C c.240A>C p.K80N Missense 4/9 - 3
10-87931076-A-G c.240A>G p.K80= Synonymous 4/9 - 2
10-87931076-A-T c.240A>T p.K80N Missense 4/9 - 3
10-87931077-T-C c.241T>C p.F81L Missense 4/9 - 5
10-87931077-TT-GC c.241_242delinsGC p.F81A Missense 4/9 - 1
10-87931079-T-G c.243T>G p.F81L Missense 4/9 - 5
10-87931078-T-A c.242T>A p.F81Y Missense 4/9 - 1
10-87931078-T-C c.242T>C p.F81S Missense 4/9 - 4
10-87931078-T-G c.242T>G p.F81C Missense 4/9 - 13
10-87931076-A-AT c.243dup p.N82* Nonsense 4/9 - 1
10-87931076-AT-A c.243del p.F81Lfs*18 Frameshift 4/9 - 1
10-87931079-T-A c.243T>A p.F81L Missense 4/9 - 6
10-87931079-T-C c.243T>C p.F81= Synonymous 4/9 - 1
10-87931080-A-G c.244A>G p.N82D Missense 4/9 - 2
10-87931079-TA-T c.245del p.N82Ifs*17 Frameshift 4/9 - 1
10-87931079-T-TA c.245dup p.N82Kfs*10 Frameshift 4/9 - 1
10-87931081-A-C c.245A>C p.N82T Missense 4/9 - 4
10-87931081-AT-GG c.245_246delinsGG p.N82R Missense 4/9 - 1
10-87931077-TTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAAC-T c.246_253+38del - SpliceDonorDeletion 4/9 4/8 1
10-87931081-A-AT c.247dup p.C83Lfs*9 Frameshift 4/9 - 1
10-87931081-AT-A c.247del p.C83Afs*16 Frameshift 4/9 - 1
10-87931083-T-A c.247T>A p.C83S Missense 4/9 - 10
10-87931083-T-C c.247T>C p.C83R Missense 4/9 - 4
10-87931083-T-G c.247T>G p.C83G Missense 4/9 - 1
10-87931083-TG-AC c.247_248delinsAC p.C83T Missense 4/9 - 1
10-87931083-TG-GA c.247_248delinsGA p.C83D Missense 4/9 - 1
10-87931083-TG-GC c.247_248delinsGC p.C83A Missense 4/9 - 3
10-87931084-G-C c.248G>C p.C83S Missense 4/9 - 8
10-87931083-T-TG c.248dup p.C83Wfs*9 Frameshift 4/9 - 1
10-87931084-G-A c.248G>A p.C83Y Missense 4/9 - 6
10-87931084-G-T c.248G>T p.C83F Missense 4/9 - 5
10-87931085-C-A c.249C>A p.C83* Nonsense 4/9 - 6
10-87931084-GCAGAGGTAGGTATGAATGTACTGTA-G c.250_253+21del - SpliceDonorDeletion 4/9 4/8 1
10-87931086-A-G c.250A>G p.R84G Missense 4/9 - 2
10-87931086-AG-CA c.250_251delinsCA p.R84Q Missense 4/9 - 1
10-87931086-A-T c.250A>T p.R84* Nonsense 4/9 - 3
10-87931086-CAGA-C c.250_252del p.R84del InFrameDeletion 4/9 - 1
10-87931087-G-A c.251G>A p.R84K Missense 4/9 - 2
10-87931088-A-G c.252A>G p.R84= Synonymous 4/9 - 1
10-87931089-G-A c.253G>A p.V85I Missense 4/9 - 1
10-87931089-G-C c.253G>C p.V85L Missense 4/9 - 2
10-87931089-G-T c.253G>T p.V85F Missense 4/9 - 15
10-87931088-A-AG c.253+1dup - SpliceDonorInsertion 4/9 - 2
10-87931090-G-A c.253+1G>A - IntronicSNV - 4/8 17
10-87931090-G-C c.253+1G>C - IntronicSNV - 4/8 5
10-87931090-G-T c.253+1G>T - IntronicSNV - 4/8 17
10-87931090-G-GT c.253+2dup - IntronicInsertion - 4/8 1
10-87931091-T-A c.253+2T>A - IntronicSNV - 4/8 4
10-87931091-T-C c.253+2T>C - IntronicSNV - 4/8 1
10-87931091-T-G c.253+2T>G - IntronicSNV - 4/8 1
10-87931087-GAGGT-G c.253+4_253+7del - IntronicDeletion - 4/8 1
10-87931093-G-A c.253+4G>A - IntronicSNV - 4/8 1
10-87931094-G-A c.253+5G>A - IntronicSNV - 4/8 3
10-87931094-G-T c.253+5G>T - IntronicSNV - 4/8 5
10-87931132-G-A c.253+43G>A - IntronicSNV - 4/8 1
10-87931136-G-A c.253+47G>A - IntronicSNV - 4/8 1
10-87931164-G-A c.253+75G>A - IntronicSNV - 4/8 1
10-87931195-T-C c.253+106T>C - IntronicSNV - 4/8 1
10-87931195-T-TTTATC c.253+109_253+110insTCTTA - IntronicInsertion - 4/8 9
10-87931198-A-ATCTT c.253+109_253+110insTCTT - IntronicInsertion - 4/8 2
10-87931199-A-T c.253+110A>T - IntronicSNV - 4/8 1
10-87931264-T-A c.253+175T>A - IntronicSNV - 4/8 1
10-87931292-A-G c.253+203A>G - IntronicSNV - 4/8 1
10-87931408-C-T c.253+319C>T - IntronicSNV - 4/8 1
10-87931416-C-T c.253+327C>T - IntronicSNV - 4/8 1
10-87931426-C-A c.253+337C>A - IntronicSNV - 4/8 1
10-87931555-C-T c.253+466C>T - IntronicSNV - 4/8 1
10-87931569-C-A c.253+480C>A - IntronicSNV - 4/8 1
10-87931569-CT-C c.253+484del - IntronicDeletion - 4/8 1
10-87931662-G-A c.253+573G>A - IntronicSNV - 4/8 1
10-87931676-A-G c.253+587A>G - IntronicSNV - 4/8 1
10-87931674-G-GA c.253+588dup - IntronicInsertion - 4/8 1
10-87931680-G-A c.253+591G>A - IntronicSNV - 4/8 1
10-87931692-C-T c.253+603C>T - IntronicSNV - 4/8 1
10-87931722-C-T c.253+633C>T - IntronicSNV - 4/8 1
10-87931726-A-G c.253+637A>G - IntronicSNV - 4/8 1
10-87931778-T-C c.253+689T>C - IntronicSNV - 4/8 1
10-87931791-G-A c.253+702G>A - IntronicSNV - 4/8 1
10-87931815-T-C c.253+726T>C - IntronicSNV - 4/8 1
10-87931812-GT-G c.253+731del - IntronicDeletion - 4/8 1
10-87931827-G-T c.253+738G>T - IntronicSNV - 4/8 1
10-87931847-TG-T c.253+758del - IntronicDeletion - 4/8 1
10-87931855-C-G c.253+766C>G - IntronicSNV - 4/8 1
10-87931863-A-C c.253+774A>C - IntronicSNV - 4/8 1
10-87931880-G-A c.253+791G>A - IntronicSNV - 4/8 1
10-87931887-T-C c.253+798T>C - IntronicSNV - 4/8 1
10-87931908-C-T c.253+819C>T - IntronicSNV - 4/8 1
10-87931918-T-C c.253+829T>C - IntronicSNV - 4/8 1
10-87931933-AC-A c.253+846del - IntronicDeletion - 4/8 1
10-87931937-C-T c.253+848C>T - IntronicSNV - 4/8 1
10-87932021-C-T c.253+932C>T - IntronicSNV - 4/8 1
10-87932030-C-T c.253+941C>T - IntronicSNV - 4/8 1
10-87932974-G-A c.254-39G>A - IntronicSNV - 4/8 1
10-87932974-G-T c.254-39G>T - IntronicSNV - 4/8 1
10-87933012-G-A c.254-1G>A - IntronicSNV - 4/8 1
10-87933013-GTT-G c.254_255del p.V85Gfs*6 SpliceAcceptorDeletion 5/9 - 1
10-87933013-T-C c.254T>C p.V85A Missense 5/9 - 3
10-87933013-T-G c.254T>G p.V85G Missense 5/9 - 2
10-87933012-G-GT c.255dup p.A86Cfs*6 SpliceAcceptorInsertion 5/9 - 1
10-87933014-T-TA c.255_256insA p.A86Sfs*6 SpliceAcceptorInsertion 5/9 - 1
10-87933014-T-TAA c.255_256insAA p.A86Kfs*14 SpliceAcceptorInsertion 5/9 - 1
10-87933014-T-TC c.255_256insC p.A86Rfs*6 SpliceAcceptorInsertion 5/9 - 1
10-87933014-T-TG c.256dup p.A86Gfs*6 Frameshift 5/9 - 2
10-87933015-G-A c.256G>A p.A86T Missense 5/9 - 4
10-87933015-G-C c.256G>C p.A86P Missense 5/9 - 3
10-87933015-GC-TA c.256_257delinsTA p.A86* Nonsense 5/9 - 1
10-87933015-G-T c.256G>T p.A86S Missense 5/9 - 5
10-87933016-C-A c.257C>A p.A86E Missense 5/9 - 4
10-87933016-C-G c.257C>G p.A86G Missense 5/9 - 1
10-87933016-C-T c.257C>T p.A86V Missense 5/9 - 8
10-87933016-GC-G c.257del p.A86Dfs*13 Frameshift 5/9 - 2
10-87933017-A-C c.258A>C p.A86= Synonymous 5/9 - 1
10-87933017-A-G c.258A>G p.A86= Synonymous 5/9 - 3
10-87933017-A-T c.258A>T p.A86= Synonymous 5/9 - 1
10-87933017-CA-C c.258del p.Q87Nfs*12 Frameshift 5/9 - 1
10-87933018-C-G c.259C>G p.Q87E Missense 5/9 - 1
10-87933018-C-T c.259C>T p.Q87* Nonsense 5/9 - 27
10-87933019-A-C c.260A>C p.Q87P Missense 5/9 - 9
10-87933019-A-G c.260A>G p.Q87R Missense 5/9 - 3
10-87933015-GCACAATATCCTTTTGAAGACCATAACCCAC-G c.261_290del p.Y88_Q97del InFrameDeletion 5/9 - 3
10-87933020-A-G c.261A>G p.Q87= Synonymous 5/9 - 2
10-87933019-AATATCCTTTTGAAGACCATAACCCACC-A c.262_288del p.Y88_P96del InFrameDeletion 5/9 - 1
10-87933021-T-A c.262T>A p.Y88N Missense 5/9 - 7
10-87933021-T-C c.262T>C p.Y88H Missense 5/9 - 16
10-87933021-T-G c.262T>G p.Y88D Missense 5/9 - 2
10-87933019-AAT-A c.263_264del p.Y88Sfs*3 Frameshift 5/9 - 1
10-87933022-A-C c.263A>C p.Y88S Missense 5/9 - 4
10-87933022-A-G c.263A>G p.Y88C Missense 5/9 - 24
10-87933022-A-T c.263A>T p.Y88F Missense 5/9 - 1
10-87933021-TATCCTTTTGA-T c.264_273del p.Y88* Frameshift 5/9 - 1
10-87933023-ATCCTTTT-A c.264_270del p.Y88* Frameshift 5/9 - 1
10-87933023-T-A c.264T>A p.Y88* Nonsense 5/9 - 22
10-87933023-T-G c.264T>G p.Y88* Nonsense 5/9 - 17
10-87933024-C-A c.265C>A p.P89T Missense 5/9 - 2
10-87933024-CC-TT c.265_266delinsTT p.P89F Missense 5/9 - 1
10-87933024-C-G c.265C>G p.P89A Missense 5/9 - 4
10-87933024-C-T c.265C>T p.P89S Missense 5/9 - 5
10-87933025-C-A c.266C>A p.P89H Missense 5/9 - 2
10-87933025-C-G c.266C>G p.P89R Missense 5/9 - 1
10-87933025-C-T c.266C>T p.P89L Missense 5/9 - 12
10-87933027-T-C c.268T>C p.F90L Missense 5/9 - 7
10-87933027-T-G c.268T>G p.F90V Missense 5/9 - 1
10-87933027-TT-GC c.268_269delinsGC p.F90A Missense 5/9 - 1
10-87933027-TTT-GAG c.268_270delinsGAG p.F90E Missense 5/9 - 1
10-87933029-T-A c.270T>A p.F90L Missense 5/9 - 6
10-87933029-T-G c.270T>G p.F90L Missense 5/9 - 6
10-87933028-T-C c.269T>C p.F90S Missense 5/9 - 20
10-87933028-T-G c.269T>G p.F90C Missense 5/9 - 5
10-87933028-T-TAAAA c.269_270insAAAA p.F90Lfs*3 Frameshift 5/9 - 1
10-87933025-CT-C c.270del p.F90Lfs*9 Frameshift 5/9 - 9
10-87933030-G-A c.271G>A p.E91K Missense 5/9 - 2
10-87933030-GA-AG c.271_272delinsAG p.E91R Missense 5/9 - 1
10-87933030-G-C c.271G>C p.E91Q Missense 5/9 - 4
10-87933030-G-T c.271G>T p.E91* Nonsense 5/9 - 9
10-87933031-A-C c.272A>C p.E91A Missense 5/9 - 2
10-87933031-A-G c.272A>G p.E91G Missense 5/9 - 3
10-87933031-A-T c.272A>T p.E91V Missense 5/9 - 1
10-87933030-GA-G c.273del p.D92Tfs*7 Frameshift 5/9 - 1
10-87933032-A-G c.273A>G p.E91= Synonymous 5/9 - 1
10-87933031-A-AAGG c.274_275insGAG p.E91_D92insG InFrameInsertion 5/9 - 1
10-87933033-AG-A c.274del p.D92Tfs*7 Frameshift 5/9 - 1
10-87933033-AGAC-A c.274_276del p.D92del InFrameDeletion 5/9 - 1
10-87933033-G-A c.274G>A p.D92N Missense 5/9 - 23
10-87933033-GA-TG c.274_275delinsTG p.D92C Missense 5/9 - 1
10-87933033-GA-TT c.274_275delinsTT p.D92F Missense 5/9 - 1
10-87933033-G-C c.274G>C p.D92H Missense 5/9 - 38
10-87933033-G-T c.274G>T p.D92Y Missense 5/9 - 26
10-87933034-A-C c.275A>C p.D92A Missense 5/9 - 22
10-87933034-A-G c.275A>G p.D92G Missense 5/9 - 32
10-87933034-A-T c.275A>T p.D92V Missense 5/9 - 25
10-87933035-C-A c.276C>A p.D92E Missense 5/9 - 50
10-87933035-C-CTAA c.276_277insTAA p.D92_H93ins* InFrameInsertion 5/9 - 1
10-87933035-C-G c.276C>G p.D92E Missense 5/9 - 45
10-87933034-ACCATAACCCACCACAG-A c.277_292del p.H93* Frameshift 5/9 - 2
10-87933036-C-A c.277C>A p.H93N Missense 5/9 - 9
10-87933036-CA-GC c.277_278delinsGC p.H93A Missense 5/9 - 5
10-87933036-C-G c.277C>G p.H93D Missense 5/9 - 15
10-87933036-C-T c.277C>T p.H93Y Missense 5/9 - 36
10-87933037-A-C c.278A>C p.H93P Missense 5/9 - 8
10-87933037-A-G c.278A>G p.H93R Missense 5/9 - 88
10-87933037-A-T c.278A>T p.H93L Missense 5/9 - 8
10-87933037-CATAA-C c.278_281del p.H93Pfs*5 Frameshift 5/9 - 1
10-87933037-A-AT c.279dup p.N94* Nonsense 5/9 - 1
10-87933038-T-A c.279T>A p.H93Q Missense 5/9 - 15
10-87933038-T-C c.279T>C p.H93= Synonymous 5/9 - 3
10-87933038-T-G c.279T>G p.H93Q Missense 5/9 - 10
10-87933039-AA-GC c.280_281delinsGC p.N94A Missense 5/9 - 1
10-87933039-A-G c.280A>G p.N94D Missense 5/9 - 1
10-87933039-A-T c.280A>T p.N94Y Missense 5/9 - 1
10-87933038-T-TA c.281dup p.N94Kfs*13 Frameshift 5/9 - 1
10-87933040-A-G c.281A>G p.N94S Missense 5/9 - 3
10-87933040-A-T c.281A>T p.N94I Missense 5/9 - 6
10-87933041-C-G c.282C>G p.N94K Missense 5/9 - 2
10-87933042-C-A c.283C>A p.P95T Missense 5/9 - 4
10-87933042-CC-AA c.283_284delinsAA p.P95K Missense 5/9 - 1
10-87933042-CCA-AAC c.283_285delinsAAC p.P95N Missense 5/9 - 1
10-87933042-CCA-ATG c.283_285delinsATG p.P95M Missense 5/9 - 1
10-87933042-CCA-GAC c.283_285delinsGAC p.P95D Missense 5/9 - 1
10-87933042-CC-AT c.283_284delinsAT p.P95I Missense 5/9 - 1
10-87933042-CCA-TAT c.283_285delinsTAT p.P95Y Missense 5/9 - 1
10-87933042-CCA-TGG c.283_285inv p.P95W Missense 5/9 - 1
10-87933042-CCA-TGT c.283_285delinsTGT p.P95C Missense 5/9 - 1
10-87933042-CCA-TTT c.283_285delinsTTT p.P95F Missense 5/9 - 1
10-87933042-CC-GA c.283_284delinsGA p.P95E Missense 5/9 - 1
10-87933042-CC-GG c.283_284inv p.P95G Missense 5/9 - 1
10-87933042-CC-GT c.283_284delinsGT p.P95V Missense 5/9 - 1
10-87933042-C-G c.283C>G p.P95A Missense 5/9 - 2
10-87933042-C-T c.283C>T p.P95S Missense 5/9 - 20
10-87933040-AC-A c.284del p.P95Hfs*4 Frameshift 5/9 - 2
10-87933043-C-A c.284C>A p.P95Q Missense 5/9 - 3
10-87933043-CA-AT c.284_285delinsAT p.P95H Missense 5/9 - 1
10-87933043-CCACCACAGCTAGAACTTATCAAACCCTTTTGTGAAGATCT-C c.284_323del p.P95Lfs*5 Frameshift 5/9 - 1
10-87933043-C-G c.284C>G p.P95R Missense 5/9 - 8
10-87933043-C-T c.284C>T p.P95L Missense 5/9 - 35
10-87933038-TAACCCACCACAGCTAGAACTTATCA-T c.285_309del p.P96Ffs*9 Frameshift 5/9 - 1
10-87933043-C-CAA c.285_286insAA p.P96Nfs*4 Frameshift 5/9 - 1
10-87933045-C-A c.286C>A p.P96T Missense 5/9 - 9
10-87933045-CC-AA c.286_287delinsAA p.P96K Missense 5/9 - 1
10-87933045-CCA-AAC c.286_288delinsAAC p.P96N Missense 5/9 - 1
10-87933045-CCA-ATG c.286_288delinsATG p.P96M Missense 5/9 - 1
10-87933045-CCA-GAC c.286_288delinsGAC p.P96D Missense 5/9 - 1
10-87933045-CC-AT c.286_287delinsAT p.P96I Missense 5/9 - 1
10-87933045-CCA-TAT c.286_288delinsTAT p.P96Y Missense 5/9 - 1
10-87933045-CCA-TGG c.286_288inv p.P96W Missense 5/9 - 1
10-87933045-CCA-TGT c.286_288delinsTGT p.P96C Missense 5/9 - 1
10-87933045-CCA-TTT c.286_288delinsTTT p.P96F Missense 5/9 - 1
10-87933045-CC-GA c.286_287delinsGA p.P96E Missense 5/9 - 2
10-87933045-CC-GG c.286_287inv p.P96G Missense 5/9 - 1
10-87933045-CC-GT c.286_287delinsGT p.P96V Missense 5/9 - 1
10-87933045-C-G c.286C>G p.P96A Missense 5/9 - 14
10-87933045-C-T c.286C>T p.P96S Missense 5/9 - 24
10-87933041-CCCA-C c.287_289del p.P96del InFrameDeletion 5/9 - 1
10-87933046-C-A c.287C>A p.P96Q Missense 5/9 - 11
10-87933046-CA-AT c.287_288delinsAT p.P96H Missense 5/9 - 1
10-87933046-C-G c.287C>G p.P96R Missense 5/9 - 9
10-87933046-C-T c.287C>T p.P96L Missense 5/9 - 15
10-87933047-A-G c.288A>G p.P96= Synonymous 5/9 - 1
10-87933048-C-A c.289C>A p.Q97K Missense 5/9 - 1
10-87933048-CA-AC c.289_290delinsAC p.Q97T Missense 5/9 - 1
10-87933048-CA-AT c.289_290delinsAT p.Q97M Missense 5/9 - 1
10-87933048-CAG-AAC c.289_291delinsAAC p.Q97N Missense 5/9 - 1
10-87933048-CAG-ATC c.289_291delinsATC p.Q97I Missense 5/9 - 1
10-87933048-CA-GC c.289_290delinsGC p.Q97A Missense 5/9 - 1
10-87933048-CA-GG c.289_290delinsGG p.Q97G Missense 5/9 - 1
10-87933048-CAG-GAC c.289_291delinsGAC p.Q97D Missense 5/9 - 1
10-87933048-CA-GT c.289_290delinsGT p.Q97V Missense 5/9 - 1
10-87933048-CAG-TAT c.289_291delinsTAT p.Q97Y Missense 5/9 - 1
10-87933048-CAG-TGT c.289_291delinsTGT p.Q97C Missense 5/9 - 1
10-87933048-CAG-TTT c.289_291delinsTTT p.Q97F Missense 5/9 - 1
10-87933048-CA-TC c.289_290delinsTC p.Q97S Missense 5/9 - 1
10-87933048-CA-TG c.289_290inv p.Q97W Missense 5/9 - 1
10-87933048-C-G c.289C>G p.Q97E Missense 5/9 - 1
10-87933048-C-T c.289C>T p.Q97* Nonsense 5/9 - 17
10-87933049-A-C c.290A>C p.Q97P Missense 5/9 - 2
10-87933049-A-G c.290A>G p.Q97R Missense 5/9 - 2
10-87933049-A-T c.290A>T p.Q97L Missense 5/9 - 2
10-87933049-CAGCTA-C c.290_294del p.Q97Rfs*8 Frameshift 5/9 - 1
10-87933050-G-C c.291G>C p.Q97H Missense 5/9 - 3
10-87933050-G-T c.291G>T p.Q97H Missense 5/9 - 3
10-87933051-C-A c.292C>A p.L98I Missense 5/9 - 1
10-87933051-C-G c.292C>G p.L98V Missense 5/9 - 2
10-87933051-C-T c.292C>T p.L98= Synonymous 5/9 - 3
10-87933051-CT-AA c.292_293delinsAA p.L98K Missense 5/9 - 1
10-87933051-CTA-AAC c.292_294delinsAAC p.L98N Missense 5/9 - 1
10-87933051-CTA-ATG c.292_294delinsATG p.L98M Missense 5/9 - 1
10-87933051-CT-AC c.292_293delinsAC p.L98T Missense 5/9 - 1
10-87933051-CTA-GAC c.292_294delinsGAC p.L98D Missense 5/9 - 1
10-87933051-CTA-TAT c.292_294delinsTAT p.L98Y Missense 5/9 - 1
10-87933051-CTA-TGG c.292_294delinsTGG p.L98W Missense 5/9 - 1
10-87933051-CTA-TGT c.292_294delinsTGT p.L98C Missense 5/9 - 1
10-87933051-CTA-TTT c.292_294delinsTTT p.L98F Missense 5/9 - 2
10-87933051-CT-GA c.292_293delinsGA p.L98E Missense 5/9 - 1
10-87933051-CT-GC c.292_293delinsGC p.L98A Missense 5/9 - 1
10-87933051-CT-GG c.292_293delinsGG p.L98G Missense 5/9 - 1
10-87933051-CT-TC c.292_293delinsTC p.L98S Missense 5/9 - 1
10-87933052-T-A c.293T>A p.L98Q Missense 5/9 - 1
10-87933052-TA-AT c.293_294delinsAT p.L98H Missense 5/9 - 1
10-87933052-T-C c.293T>C p.L98P Missense 5/9 - 2
10-87933052-T-G c.293T>G p.L98R Missense 5/9 - 3
10-87933052-T-TA c.294dup p.E99Rfs*8 Frameshift 5/9 - 1
10-87933053-A-AT c.294_295insT p.E99* Nonsense 5/9 - 1
10-87933053-TA-T c.294del p.E99Nfs*14 Frameshift 5/9 - 1
10-87933054-G-A c.295G>A p.E99K Missense 5/9 - 10
10-87933054-GAA-AAC c.295_297delinsAAC p.E99N Missense 5/9 - 1
10-87933054-GAA-ATG c.295_297delinsATG p.E99M Missense 5/9 - 1
10-87933054-GA-AC c.295_296delinsAC p.E99T Missense 5/9 - 1
10-87933054-GAA-CAT c.295_297delinsCAT p.E99H Missense 5/9 - 1
10-87933054-GA-AG c.295_296delinsAG p.E99R Missense 5/9 - 1
10-87933054-GA-AT c.295_296delinsAT p.E99I Missense 5/9 - 1
10-87933054-GAA-TAT c.295_297delinsTAT p.E99Y Missense 5/9 - 1
10-87933054-GAA-TGG c.295_297delinsTGG p.E99W Missense 5/9 - 1
10-87933054-GAA-TGT c.295_297delinsTGT p.E99C Missense 5/9 - 1
10-87933054-GAA-TTT c.295_297delinsTTT p.E99F Missense 5/9 - 1
10-87933054-GA-CC c.295_296delinsCC p.E99P Missense 5/9 - 1
10-87933054-GA-CT c.295_296delinsCT p.E99L Missense 5/9 - 1
10-87933054-GA-TC c.295_296inv p.E99S Missense 5/9 - 1
10-87933054-G-C c.295G>C p.E99Q Missense 5/9 - 1
10-87933054-G-GT c.295_296insT p.E99Vfs*8 Frameshift 5/9 - 1
10-87933054-G-T c.295G>T p.E99* Nonsense 5/9 - 14
10-87933055-A-C c.296A>C p.E99A Missense 5/9 - 1
10-87933055-A-G c.296A>G p.E99G Missense 5/9 - 1
10-87933055-A-T c.296A>T p.E99V Missense 5/9 - 1
10-87933054-GAACTTATCAA-G c.297_306del p.E99Dfs*11 Frameshift 5/9 - 1
10-87933054-GA-G c.297del p.E99Dfs*14 Frameshift 5/9 - 3
10-87933054-G-GA c.297dup p.L100Tfs*7 Frameshift 5/9 - 1
10-87933056-A-C c.297A>C p.E99D Missense 5/9 - 3
10-87933056-A-G c.297A>G p.E99= Synonymous 5/9 - 2
10-87933056-A-T c.297A>T p.E99D Missense 5/9 - 3
10-87933057-C-A c.298C>A p.L100I Missense 5/9 - 1
10-87933057-C-G c.298C>G p.L100V Missense 5/9 - 1
10-87933057-C-T c.298C>T p.L100F Missense 5/9 - 2
10-87933057-CT-AA c.298_299delinsAA p.L100N Missense 5/9 - 1
10-87933057-CT-AC c.298_299delinsAC p.L100T Missense 5/9 - 1
10-87933057-CT-AG c.298_299inv p.L100S Missense 5/9 - 1
10-87933057-CT-GA c.298_299delinsGA p.L100D Missense 5/9 - 1
10-87933057-CT-GC c.298_299delinsGC p.L100A Missense 5/9 - 2
10-87933057-CT-GG c.298_299delinsGG p.L100G Missense 5/9 - 1
10-87933057-CT-TA c.298_299delinsTA p.L100Y Missense 5/9 - 1
10-87933057-CTT-AAG c.298_300inv p.L100K Missense 5/9 - 1
10-87933057-CTT-ATG c.298_300delinsATG p.L100M Missense 5/9 - 1
10-87933057-CT-TG c.298_299delinsTG p.L100C Missense 5/9 - 1
10-87933057-CTT-GAG c.298_300delinsGAG p.L100E Missense 5/9 - 1
10-87933057-CTT-TGG c.298_300delinsTGG p.L100W Missense 5/9 - 1
10-87933058-T-A c.299T>A p.L100H Missense 5/9 - 1
10-87933058-T-C c.299T>C p.L100P Missense 5/9 - 7
10-87933058-T-G c.299T>G p.L100R Missense 5/9 - 3
10-87933058-TT-AA c.299_300inv p.L100Q Missense 5/9 - 2
10-87933059-T-A c.300T>A p.L100= Synonymous 5/9 - 1
10-87933059-T-C c.300T>C p.L100= Synonymous 5/9 - 1
10-87933059-T-G c.300T>G p.L100= Synonymous 5/9 - 1
10-87933059-T-TA c.301dup p.I101Nfs*6 Frameshift 5/9 - 5
10-87933060-A-C c.301A>C p.I101L Missense 5/9 - 1
10-87933060-A-G c.301A>G p.I101V Missense 5/9 - 1
10-87933060-A-GT c.301delinsGT p.I101Vfs*6 Frameshift 5/9 - 1
10-87933060-A-T c.301A>T p.I101F Missense 5/9 - 7
10-87933060-AT-CA c.301_302delinsCA p.I101H Missense 5/9 - 1
10-87933060-AT-CC c.301_302delinsCC p.I101P Missense 5/9 - 1
10-87933060-ATC-CAA c.301_303delinsCAA p.I101Q Missense 5/9 - 1
10-87933060-ATC-GAG c.301_303delinsGAG p.I101E Missense 5/9 - 1
10-87933060-ATC-TGG c.301_303delinsTGG p.I101W Missense 5/9 - 1
10-87933060-AT-GA c.301_302delinsGA p.I101D Missense 5/9 - 1
10-87933060-AT-GC c.301_302delinsGC p.I101A Missense 5/9 - 2
10-87933060-AT-GG c.301_302delinsGG p.I101G Missense 5/9 - 1
10-87933060-AT-TA c.301_302delinsTA p.I101Y Missense 5/9 - 1
10-87933060-AT-TG c.301_302delinsTG p.I101C Missense 5/9 - 1
10-87933060-TA-T c.301del p.I101Sfs*12 Frameshift 5/9 - 1
10-87933059-TATC-T c.302_304del p.I101del InFrameDeletion 5/9 - 1
10-87933061-AT-A c.302del p.I101Tfs*12 Frameshift 5/9 - 3
10-87933061-T-A c.302T>A p.I101N Missense 5/9 - 15
10-87933061-T-C c.302T>C p.I101T Missense 5/9 - 48
10-87933061-TCAA-ACC c.302_305delinsACC p.I101Nfs*12 Frameshift 5/9 - 1
10-87933061-TC-AG c.302_303delinsAG p.I101K Missense 5/9 - 2
10-87933061-TC-GG c.302_303delinsGG p.I101R Missense 5/9 - 1
10-87933061-T-G c.302T>G p.I101S Missense 5/9 - 3
10-87933062-C-A c.303C>A p.I101= Synonymous 5/9 - 1
10-87933062-C-G c.303C>G p.I101M Missense 5/9 - 6
10-87933062-C-T c.303C>T p.I101= Synonymous 5/9 - 1
10-87933063-AAA-CAT c.304_306delinsCAT p.K102H Missense 5/9 - 1
10-87933063-AAA-GAC c.304_306delinsGAC p.K102D Missense 5/9 - 1
10-87933063-AAA-TAT c.304_306delinsTAT p.K102Y Missense 5/9 - 1
10-87933063-AAA-TGG c.304_306delinsTGG p.K102W Missense 5/9 - 1
10-87933063-AAA-TGT c.304_306delinsTGT p.K102C Missense 5/9 - 1
10-87933063-AAA-TTT c.304_306inv p.K102F Missense 5/9 - 1
10-87933063-AA-CC c.304_305delinsCC p.K102P Missense 5/9 - 1
10-87933063-AA-CT c.304_305delinsCT p.K102L Missense 5/9 - 1
10-87933063-AA-GC c.304_305delinsGC p.K102A Missense 5/9 - 2
10-87933063-AA-GG c.304_305delinsGG p.K102G Missense 5/9 - 1
10-87933063-AA-GT c.304_305delinsGT p.K102V Missense 5/9 - 1
10-87933063-A-C c.304A>C p.K102Q Missense 5/9 - 4
10-87933063-A-G c.304A>G p.K102E Missense 5/9 - 2
10-87933063-A-T c.304A>T p.K102* Nonsense 5/9 - 3
10-87933064-AA-GC c.305_306delinsGC p.K102S Missense 5/9 - 1
10-87933064-AA-TG c.305_306delinsTG p.K102M Missense 5/9 - 1
10-87933064-A-C c.305A>C p.K102T Missense 5/9 - 1
10-87933064-A-G c.305A>G p.K102R Missense 5/9 - 3
10-87933064-A-T c.305A>T p.K102I Missense 5/9 - 1
10-87933062-CA-C c.306del p.K102Nfs*11 Frameshift 5/9 - 4
10-87933062-C-CA c.306dup p.P103Tfs*4 Frameshift 5/9 - 1
10-87933065-A-AAAG c.306_307insAAG p.K102dup InFrameInsertion 5/9 - 2
10-87933065-A-C c.306A>C p.K102N Missense 5/9 - 1
10-87933065-A-G c.306A>G p.K102= Synonymous 5/9 - 2
10-87933065-A-T c.306A>T p.K102N Missense 5/9 - 1
10-87933066-C-A c.307C>A p.P103T Missense 5/9 - 2
10-87933066-CC-AA c.307_308delinsAA p.P103N Missense 5/9 - 1
10-87933066-CC-AT c.307_308delinsAT p.P103I Missense 5/9 - 1
10-87933066-CCC-AAG c.307_309delinsAAG p.P103K Missense 5/9 - 1
10-87933066-CCC-ATG c.307_309delinsATG p.P103M Missense 5/9 - 1
10-87933066-CCC-GAG c.307_309delinsGAG p.P103E Missense 5/9 - 1
10-87933066-CCC-TGG c.307_309delinsTGG p.P103W Missense 5/9 - 1
10-87933066-CC-GA c.307_308delinsGA p.P103D Missense 5/9 - 1
10-87933066-CC-GG c.307_308inv p.P103G Missense 5/9 - 1
10-87933066-CC-GT c.307_308delinsGT p.P103V Missense 5/9 - 1
10-87933066-CC-TA c.307_308delinsTA p.P103Y Missense 5/9 - 1
10-87933066-CC-TG c.307_308delinsTG p.P103C Missense 5/9 - 1
10-87933066-CC-TT c.307_308delinsTT p.P103F Missense 5/9 - 1
10-87933066-C-G c.307C>G p.P103A Missense 5/9 - 1
10-87933066-C-T c.307C>T p.P103S Missense 5/9 - 6
10-87933067-C-A c.308C>A p.P103H Missense 5/9 - 2
10-87933067-CC-AA c.308_309delinsAA p.P103Q Missense 5/9 - 1
10-87933067-C-G c.308C>G p.P103R Missense 5/9 - 2
10-87933067-C-T c.308C>T p.P103L Missense 5/9 - 3
10-87933065-AC-A c.309del p.C105Vfs*8 Frameshift 5/9 - 2
10-87933068-C-A c.309C>A p.P103= Synonymous 5/9 - 1
10-87933068-C-G c.309C>G p.P103= Synonymous 5/9 - 2
10-87933068-C-T c.309C>T p.P103= Synonymous 5/9 - 1
10-87933069-T-A c.310T>A p.F104I Missense 5/9 - 1
10-87933069-T-C c.310T>C p.F104L Missense 5/9 - 7
10-87933069-T-G c.310T>G p.F104V Missense 5/9 - 3
10-87933069-TT-AA c.310_311inv p.F104N Missense 5/9 - 1
10-87933069-TT-AC c.310_311delinsAC p.F104T Missense 5/9 - 1
10-87933069-TT-CA c.310_311delinsCA p.F104H Missense 5/9 - 1
10-87933069-TT-CC c.310_311delinsCC p.F104P Missense 5/9 - 1
10-87933069-TT-CG c.310_311delinsCG p.F104R Missense 5/9 - 1
10-87933069-TT-GA c.310_311delinsGA p.F104D Missense 5/9 - 1
10-87933069-TT-GC c.310_311delinsGC p.F104A Missense 5/9 - 1
10-87933069-TT-GG c.310_311delinsGG p.F104G Missense 5/9 - 1
10-87933069-TTT-AAG c.310_312delinsAAG p.F104K Missense 5/9 - 1
10-87933069-TTT-ATG c.310_312delinsATG p.F104M Missense 5/9 - 1
10-87933069-TTT-CAA c.310_312delinsCAA p.F104Q Missense 5/9 - 1
10-87933069-TTT-GAG c.310_312delinsGAG p.F104E Missense 5/9 - 1
10-87933071-T-A c.312T>A p.F104L Missense 5/9 - 6
10-87933071-T-G c.312T>G p.F104L Missense 5/9 - 6
10-87933070-T-A c.311T>A p.F104Y Missense 5/9 - 3
10-87933070-T-C c.311T>C p.F104S Missense 5/9 - 3
10-87933070-T-G c.311T>G p.F104C Missense 5/9 - 2
10-87933070-TT-AA c.311_312inv p.F104* Nonsense 5/9 - 1
10-87933070-TT-GG c.311_312delinsGG p.F104W Missense 5/9 - 1
10-87933070-TTTTGTGA-T c.311_317del p.F104* Frameshift 5/9 - 1
10-87933071-T-C c.312T>C p.F104= Synonymous 5/9 - 3
10-87933068-C-CT c.313dup p.C105Lfs*2 Frameshift 5/9 - 2
10-87933068-CT-C c.313del p.C105Vfs*8 Frameshift 5/9 - 8
10-87933072-T-A c.313T>A p.C105S Missense 5/9 - 5
10-87933072-T-C c.313T>C p.C105R Missense 5/9 - 16
10-87933072-T-G c.313T>G p.C105G Missense 5/9 - 17
10-87933072-TG-AA c.313_314delinsAA p.C105N Missense 5/9 - 1
10-87933072-TG-AC c.313_314delinsAC p.C105T Missense 5/9 - 2
10-87933072-TG-AT c.313_314delinsAT p.C105I Missense 5/9 - 1
10-87933072-TG-CA c.313_314inv p.C105H Missense 5/9 - 1
10-87933072-TG-CC c.313_314delinsCC p.C105P Missense 5/9 - 1
10-87933072-TG-CT c.313_314delinsCT p.C105L Missense 5/9 - 1
10-87933072-TG-GA c.313_314delinsGA p.C105D Missense 5/9 - 1
10-87933072-TG-GC c.313_314delinsGC p.C105A Missense 5/9 - 3
10-87933072-TG-GT c.313_314delinsGT p.C105V Missense 5/9 - 1
10-87933072-TGT-AAG c.313_315delinsAAG p.C105K Missense 5/9 - 1
10-87933072-TGT-ATG c.313_315delinsATG p.C105M Missense 5/9 - 1
10-87933072-TGT-CAA c.313_315delinsCAA p.C105Q Missense 5/9 - 1
10-87933072-TGT-GAG c.313_315delinsGAG p.C105E Missense 5/9 - 1
10-87933073-G-A c.314G>A p.C105Y Missense 5/9 - 40
10-87933073-G-C c.314G>C p.C105S Missense 5/9 - 7
10-87933073-G-T c.314G>T p.C105F Missense 5/9 - 21
10-87933073-TG-T c.314del p.C105Lfs*8 Frameshift 5/9 - 1
10-87933074-T-C c.315T>C p.C105= Synonymous 5/9 - 1
10-87933074-T-G c.315T>G p.C105W Missense 5/9 - 12
10-87933075-G-A c.316G>A p.E106K Missense 5/9 - 3
10-87933075-GAA-AAC c.316_318delinsAAC p.E106N Missense 5/9 - 1
10-87933075-GAA-ATG c.316_318delinsATG p.E106M Missense 5/9 - 1
10-87933075-GA-AC c.316_317delinsAC p.E106T Missense 5/9 - 1
10-87933075-GAA-CAT c.316_318delinsCAT p.E106H Missense 5/9 - 1
10-87933075-GA-AG c.316_317delinsAG p.E106R Missense 5/9 - 1
10-87933075-GA-AT c.316_317delinsAT p.E106I Missense 5/9 - 1
10-87933075-GAA-TAT c.316_318delinsTAT p.E106Y Missense 5/9 - 1
10-87933075-GAA-TGG c.316_318delinsTGG p.E106W Missense 5/9 - 1
10-87933075-GAA-TGT c.316_318delinsTGT p.E106C Missense 5/9 - 1
10-87933075-GAA-TTT c.316_318delinsTTT p.E106F Missense 5/9 - 1
10-87933075-GA-CC c.316_317delinsCC p.E106P Missense 5/9 - 1
10-87933075-GA-CT c.316_317delinsCT p.E106L Missense 5/9 - 1
10-87933075-GA-TC c.316_317inv p.E106S Missense 5/9 - 1
10-87933075-G-C c.316G>C p.E106Q Missense 5/9 - 2
10-87933075-G-T c.316G>T p.E106* Nonsense 5/9 - 9
10-87933076-A-C c.317A>C p.E106A Missense 5/9 - 2
10-87933076-A-G c.317A>G p.E106G Missense 5/9 - 3
10-87933076-A-T c.317A>T p.E106V Missense 5/9 - 1
10-87933075-GA-G c.318del p.D107Ifs*6 Frameshift 5/9 - 2
10-87933077-A-C c.318A>C p.E106D Missense 5/9 - 1
10-87933077-A-G c.318A>G p.E106= Synonymous 5/9 - 1
10-87933077-A-T c.318A>T p.E106D Missense 5/9 - 1
10-87933078-G-A c.319G>A p.D107N Missense 5/9 - 11
10-87933078-GA-AC c.319_320delinsAC p.D107T Missense 5/9 - 1
10-87933078-GA-AG c.319_320delinsAG p.D107S Missense 5/9 - 1
10-87933078-GA-AT c.319_320delinsAT p.D107I Missense 5/9 - 1
10-87933078-GA-CC c.319_320delinsCC p.D107P Missense 5/9 - 1
10-87933078-GA-CG c.319_320delinsCG p.D107R Missense 5/9 - 1
10-87933078-GA-CT c.319_320delinsCT p.D107L Missense 5/9 - 1
10-87933078-GAT-AAG c.319_321delinsAAG p.D107K Missense 5/9 - 1
10-87933078-GAT-ATG c.319_321delinsATG p.D107M Missense 5/9 - 1
10-87933078-GAT-CAA c.319_321delinsCAA p.D107Q Missense 5/9 - 1
10-87933078-GA-TG c.319_320delinsTG p.D107C Missense 5/9 - 1
10-87933078-GA-TT c.319_320delinsTT p.D107F Missense 5/9 - 1
10-87933078-GAT-TGG c.319_321delinsTGG p.D107W Missense 5/9 - 1
10-87933078-G-C c.319G>C p.D107H Missense 5/9 - 9
10-87933078-G-T c.319G>T p.D107Y Missense 5/9 - 35
10-87933079-A-C c.320A>C p.D107A Missense 5/9 - 4
10-87933079-A-G c.320A>G p.D107G Missense 5/9 - 12
10-87933079-A-T c.320A>T p.D107V Missense 5/9 - 14
10-87933077-AGATCTT-A c.321_326del p.L108_D109del InFrameDeletion 5/9 - 2
10-87933080-AT-A c.321del p.D109Tfs*4 Frameshift 5/9 - 1
10-87933080-T-A c.321T>A p.D107E Missense 5/9 - 1
10-87933080-T-C c.321T>C p.D107= Synonymous 5/9 - 4
10-87933080-T-G c.321T>G p.D107E Missense 5/9 - 3
10-87933072-TGTGAAGATCTTGACCAATGGCTAA-T c.322_345del p.L108_D115del InFrameDeletion 5/9 - 1
10-87933081-C-A c.322C>A p.L108I Missense 5/9 - 1
10-87933081-C-G c.322C>G p.L108V Missense 5/9 - 4
10-87933081-C-T c.322C>T p.L108F Missense 5/9 - 13
10-87933081-CT-AA c.322_323delinsAA p.L108N Missense 5/9 - 1
10-87933081-CT-AC c.322_323delinsAC p.L108T Missense 5/9 - 1
10-87933081-CT-AG c.322_323inv p.L108S Missense 5/9 - 1
10-87933081-CT-GA c.322_323delinsGA p.L108D Missense 5/9 - 1
10-87933081-CT-GC c.322_323delinsGC p.L108A Missense 5/9 - 1
10-87933081-CT-GG c.322_323delinsGG p.L108G Missense 5/9 - 1
10-87933081-CT-TA c.322_323delinsTA p.L108Y Missense 5/9 - 1
10-87933081-CTT-AAG c.322_324inv p.L108K Missense 5/9 - 1
10-87933081-CTT-ATG c.322_324delinsATG p.L108M Missense 5/9 - 1
10-87933081-CT-TG c.322_323delinsTG p.L108C Missense 5/9 - 1
10-87933081-CTT-GAG c.322_324delinsGAG p.L108E Missense 5/9 - 1
10-87933081-CTT-TAA c.322_324delinsTAA p.L108* Nonsense 5/9 - 1
10-87933081-CTT-TGG c.322_324delinsTGG p.L108W Missense 5/9 - 1
10-87933080-TCTTGAC-T c.323_328del p.L108_D109del InFrameDeletion 5/9 - 1
10-87933082-T-A c.323T>A p.L108H Missense 5/9 - 6
10-87933082-T-C c.323T>C p.L108P Missense 5/9 - 32
10-87933082-T-G c.323T>G p.L108R Missense 5/9 - 31
10-87933082-TT-AA c.323_324inv p.L108Q Missense 5/9 - 1
10-87933081-CT-C c.324del p.D109Tfs*4 Frameshift 5/9 - 2
10-87933082-T-TTA c.324_325insAT p.D109Mfs*5 Frameshift 5/9 - 1
10-87933083-T-A c.324T>A p.L108= Synonymous 5/9 - 2
10-87933083-T-C c.324T>C p.L108= Synonymous 5/9 - 5
10-87933083-T-G c.324T>G p.L108= Synonymous 5/9 - 3
10-87933083-T-TG c.325dup p.D109Gfs*6 Frameshift 5/9 - 1
10-87933084-G-A c.325G>A p.D109N Missense 5/9 - 9
10-87933084-GA-AC c.325_326delinsAC p.D109T Missense 5/9 - 1
10-87933084-GA-AG c.325_326delinsAG p.D109S Missense 5/9 - 1
10-87933084-GA-AT c.325_326delinsAT p.D109I Missense 5/9 - 1
10-87933084-GAC-AAG c.325_327delinsAAG p.D109K Missense 5/9 - 1
10-87933084-GAC-ATG c.325_327delinsATG p.D109M Missense 5/9 - 1
10-87933084-GA-CC c.325_326delinsCC p.D109P Missense 5/9 - 1
10-87933084-GAC-CAA c.325_327delinsCAA p.D109Q Missense 5/9 - 1
10-87933084-GA-CG c.325_326delinsCG p.D109R Missense 5/9 - 1
10-87933084-GA-CT c.325_326delinsCT p.D109L Missense 5/9 - 1
10-87933084-GAC-TAA c.325_327delinsTAA p.D109* Nonsense 5/9 - 1
10-87933084-GAC-TGG c.325_327delinsTGG p.D109W Missense 5/9 - 1
10-87933084-GA-TG c.325_326delinsTG p.D109C Missense 5/9 - 1
10-87933084-GA-TT c.325_326delinsTT p.D109F Missense 5/9 - 1
10-87933084-G-C c.325G>C p.D109H Missense 5/9 - 3
10-87933084-G-T c.325G>T p.D109Y Missense 5/9 - 1
10-87933084-TG-T c.325del p.D109Tfs*4 Frameshift 5/9 - 1
10-87933085-A-C c.326A>C p.D109A Missense 5/9 - 2
10-87933085-A-G c.326A>G p.D109G Missense 5/9 - 5
10-87933085-A-T c.326A>T p.D109V Missense 5/9 - 3
10-87933086-C-A c.327C>A p.D109E Missense 5/9 - 2
10-87933086-C-G c.327C>G p.D109E Missense 5/9 - 2
10-87933086-C-T c.327C>T p.D109= Synonymous 5/9 - 1
10-87933085-A-AC c.328dup p.Q110Pfs*5 Frameshift 5/9 - 1
10-87933085-ACCAATGG-A c.328_334del p.Q110* Frameshift 5/9 - 1
10-87933087-C-A c.328C>A p.Q110K Missense 5/9 - 5
10-87933087-CAA-AAC c.328_330delinsAAC p.Q110N Missense 5/9 - 1
10-87933087-CAA-ATG c.328_330delinsATG p.Q110M Missense 5/9 - 1
10-87933087-CA-AC c.328_329delinsAC p.Q110T Missense 5/9 - 1
10-87933087-CAA-GAC c.328_330delinsGAC p.Q110D Missense 5/9 - 1
10-87933087-CA-AT c.328_329delinsAT p.Q110I Missense 5/9 - 1
10-87933087-CAA-TAT c.328_330delinsTAT p.Q110Y Missense 5/9 - 1
10-87933087-CAA-TGG c.328_330delinsTGG p.Q110W Missense 5/9 - 1
10-87933087-CAA-TGT c.328_330delinsTGT p.Q110C Missense 5/9 - 1
10-87933087-CAA-TTT c.328_330delinsTTT p.Q110F Missense 5/9 - 1
10-87933087-CA-GC c.328_329delinsGC p.Q110A Missense 5/9 - 1
10-87933087-CA-GG c.328_329delinsGG p.Q110G Missense 5/9 - 1
10-87933087-CA-GT c.328_329delinsGT p.Q110V Missense 5/9 - 1
10-87933087-CA-TC c.328_329delinsTC p.Q110S Missense 5/9 - 1
10-87933087-CCA-C c.328_329del p.Q110Mfs*4 Frameshift 5/9 - 1
10-87933087-C-G c.328C>G p.Q110E Missense 5/9 - 3
10-87933087-C-T c.328C>T p.Q110* Nonsense 5/9 - 27
10-87933088-A-C c.329A>C p.Q110P Missense 5/9 - 1
10-87933088-A-G c.329A>G p.Q110R Missense 5/9 - 6
10-87933088-A-T c.329A>T p.Q110L Missense 5/9 - 1
10-87933087-CA-C c.330del p.Q110Hfs*3 Frameshift 5/9 - 3
10-87933089-AAT-A c.330_331del p.W111Afs*3 Frameshift 5/9 - 1
10-87933089-A-C c.330A>C p.Q110H Missense 5/9 - 6
10-87933089-A-G c.330A>G p.Q110= Synonymous 5/9 - 1
10-87933089-A-T c.330A>T p.Q110H Missense 5/9 - 3
10-87933088-AATGGCT-A c.331_336del p.W111_L112del InFrameDeletion 5/9 - 1
10-87933090-T-A c.331T>A p.W111R Missense 5/9 - 10
10-87933090-T-C c.331T>C p.W111R Missense 5/9 - 19
10-87933090-T-G c.331T>G p.W111G Missense 5/9 - 1
10-87933090-TG-AA c.331_332delinsAA p.W111K Missense 5/9 - 1
10-87933090-TG-AC c.331_332delinsAC p.W111T Missense 5/9 - 1
10-87933090-TG-AT c.331_332delinsAT p.W111M Missense 5/9 - 1
10-87933090-TG-CA c.331_332inv p.W111Q Missense 5/9 - 1
10-87933090-TG-CC c.331_332delinsCC p.W111P Missense 5/9 - 1
10-87933090-TG-GA c.331_332delinsGA p.W111E Missense 5/9 - 1
10-87933090-TGG-AAC c.331_333delinsAAC p.W111N Missense 5/9 - 1
10-87933090-TGG-ATC c.331_333delinsATC p.W111I Missense 5/9 - 1
10-87933090-TG-GC c.331_332delinsGC p.W111A Missense 5/9 - 1
10-87933090-TGG-CAT c.331_333delinsCAT p.W111H Missense 5/9 - 3
10-87933090-TGG-GAC c.331_333delinsGAC p.W111D Missense 5/9 - 1
10-87933090-TG-GT c.331_332delinsGT p.W111V Missense 5/9 - 1
10-87933091-G-A c.332G>A p.W111* Nonsense 5/9 - 27
10-87933091-G-C c.332G>C p.W111S Missense 5/9 - 3
10-87933091-GG-AT c.332_333delinsAT p.W111Y Missense 5/9 - 1
10-87933091-G-GT c.332_333insT p.W111Cfs*4 Frameshift 5/9 - 1
10-87933091-GG-TT c.332_333delinsTT p.W111F Missense 5/9 - 1
10-87933091-G-T c.332G>T p.W111L Missense 5/9 - 2
10-87933092-G-A c.333G>A p.W111* Nonsense 5/9 - 31
10-87933090-TG-T c.333del p.W111Cfs*2 Frameshift 5/9 - 1
10-87933092-G-C c.333G>C p.W111C Missense 5/9 - 3
10-87933092-G-T c.333G>T p.W111C Missense 5/9 - 3
10-87933093-C-A c.334C>A p.L112I Missense 5/9 - 3
10-87933093-C-CG c.334_335insG p.L112Rfs*3 Frameshift 5/9 - 2
10-87933093-C-G c.334C>G p.L112V Missense 5/9 - 30
10-87933093-C-T c.334C>T p.L112= Synonymous 5/9 - 2
10-87933093-CT-AA c.334_335delinsAA p.L112K Missense 5/9 - 1
10-87933093-CTA-AAC c.334_336delinsAAC p.L112N Missense 5/9 - 1
10-87933093-CTA-ATG c.334_336delinsATG p.L112M Missense 5/9 - 1
10-87933093-CT-AC c.334_335delinsAC p.L112T Missense 5/9 - 1
10-87933093-CTA-GAC c.334_336delinsGAC p.L112D Missense 5/9 - 1
10-87933093-CTA-TAT c.334_336delinsTAT p.L112Y Missense 5/9 - 1
10-87933093-CTA-TGG c.334_336delinsTGG p.L112W Missense 5/9 - 1
10-87933093-CTA-TGT c.334_336delinsTGT p.L112C Missense 5/9 - 1
10-87933093-CTA-TTT c.334_336delinsTTT p.L112F Missense 5/9 - 1
10-87933093-CT-GA c.334_335delinsGA p.L112E Missense 5/9 - 1
10-87933093-CT-GC c.334_335delinsGC p.L112A Missense 5/9 - 1
10-87933093-CT-GG c.334_335delinsGG p.L112G Missense 5/9 - 1
10-87933093-CT-TC c.334_335delinsTC p.L112S Missense 5/9 - 1
10-87933093-GCTAAGTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAAC-G c.334_392del p.L112Wfs*48 InFrameDeletion 5/9 - 1
10-87933094-T-A c.335T>A p.L112Q Missense 5/9 - 10
10-87933094-TA-AT c.335_336delinsAT p.L112H Missense 5/9 - 1
10-87933094-T-C c.335T>C p.L112P Missense 5/9 - 39
10-87933094-T-G c.335T>G p.L112R Missense 5/9 - 14
10-87933093-CTAAGTGAAGATGACAATCATGT-C c.336_357del p.S113Qfs*14 Frameshift 5/9 - 1
10-87933095-A-AT c.336_337insT p.S113* Nonsense 5/9 - 2
10-87933095-A-C c.336A>C p.L112= Synonymous 5/9 - 1
10-87933095-A-G c.336A>G p.L112= Synonymous 5/9 - 1
10-87933095-A-T c.336A>T p.L112= Synonymous 5/9 - 1
10-87933096-A-G c.337A>G p.S113G Missense 5/9 - 4
10-87933096-AG-CA c.337_338delinsCA p.S113H Missense 5/9 - 1
10-87933096-AG-CC c.337_338delinsCC p.S113P Missense 5/9 - 1
10-87933096-AG-CT c.337_338inv p.S113L Missense 5/9 - 1
10-87933096-AG-GA c.337_338delinsGA p.S113D Missense 5/9 - 1
10-87933096-AG-GC c.337_338delinsGC p.S113A Missense 5/9 - 3
10-87933096-AG-GT c.337_338delinsGT p.S113V Missense 5/9 - 1
10-87933096-AG-TA c.337_338delinsTA p.S113Y Missense 5/9 - 1
10-87933096-AGT-CAA c.337_339delinsCAA p.S113Q Missense 5/9 - 1
10-87933096-AGT-GAG c.337_339delinsGAG p.S113E Missense 5/9 - 2
10-87933096-AG-TT c.337_338delinsTT p.S113F Missense 5/9 - 1
10-87933096-AGT-TGG c.337_339delinsTGG p.S113W Missense 5/9 - 1
10-87933096-A-T c.337A>T p.S113C Missense 5/9 - 1
10-87933097-AG-A c.338del p.S113Mfs*21 Frameshift 5/9 - 1
10-87933097-G-A c.338G>A p.S113N Missense 5/9 - 4
10-87933097-G-C c.338G>C p.S113T Missense 5/9 - 2
10-87933097-G-T c.338G>T p.S113I Missense 5/9 - 3
10-87933097-GT-AG c.338_339delinsAG p.S113K Missense 5/9 - 1
10-87933097-GT-TG c.338_339delinsTG p.S113M Missense 5/9 - 1
10-87933094-TAAGTG-T c.339_343del p.S113Rfs*2 Frameshift 5/9 - 1
10-87933096-A-C c.337A>C p.S113R Missense 5/9 - 5
10-87933098-GT-G c.339del p.S113Rfs*21 Frameshift 5/9 - 1
10-87933098-T-A c.339T>A p.S113R Missense 5/9 - 4
10-87933098-T-C c.339T>C p.S113= Synonymous 5/9 - 1
10-87933098-T-G c.339T>G p.S113R Missense 5/9 - 4
10-87933099-G-A c.340G>A p.E114K Missense 5/9 - 4
10-87933099-GAA-AAC c.340_342delinsAAC p.E114N Missense 5/9 - 1
10-87933099-GAA-ATG c.340_342delinsATG p.E114M Missense 5/9 - 1
10-87933099-GA-AC c.340_341delinsAC p.E114T Missense 5/9 - 1
10-87933099-GAA-CAT c.340_342delinsCAT p.E114H Missense 5/9 - 1
10-87933099-GA-AG c.340_341delinsAG p.E114R Missense 5/9 - 1
10-87933099-GA-AT c.340_341delinsAT p.E114I Missense 5/9 - 1
10-87933099-GAA-TAT c.340_342delinsTAT p.E114Y Missense 5/9 - 1
10-87933099-GAA-TGG c.340_342delinsTGG p.E114W Missense 5/9 - 1
10-87933099-GAA-TGT c.340_342delinsTGT p.E114C Missense 5/9 - 1
10-87933099-GAA-TTT c.340_342delinsTTT p.E114F Missense 5/9 - 1
10-87933099-GA-CC c.340_341delinsCC p.E114P Missense 5/9 - 1
10-87933099-GA-CT c.340_341delinsCT p.E114L Missense 5/9 - 1
10-87933099-GA-TC c.340_341inv p.E114S Missense 5/9 - 1
10-87933099-G-C c.340G>C p.E114Q Missense 5/9 - 1
10-87933099-G-T c.340G>T p.E114* Nonsense 5/9 - 11
10-87933100-A-C c.341A>C p.E114A Missense 5/9 - 1
10-87933100-A-G c.341A>G p.E114G Missense 5/9 - 6
10-87933100-A-T c.341A>T p.E114V Missense 5/9 - 2
10-87933101-A-AT c.342_343insT p.D115* Nonsense 5/9 - 2
10-87933101-A-C c.342A>C p.E114D Missense 5/9 - 2
10-87933101-A-G c.342A>G p.E114= Synonymous 5/9 - 3
10-87933101-A-T c.342A>T p.E114D Missense 5/9 - 3
10-87933102-G-A c.343G>A p.D115N Missense 5/9 - 9
10-87933102-GA-AC c.343_344delinsAC p.D115T Missense 5/9 - 1
10-87933102-GA-AG c.343_344delinsAG p.D115S Missense 5/9 - 1
10-87933102-GA-AT c.343_344delinsAT p.D115I Missense 5/9 - 1
10-87933102-GA-CC c.343_344delinsCC p.D115P Missense 5/9 - 1
10-87933102-GA-CG c.343_344delinsCG p.D115R Missense 5/9 - 1
10-87933102-GA-CT c.343_344delinsCT p.D115L Missense 5/9 - 1
10-87933102-GAT-AAG c.343_345delinsAAG p.D115K Missense 5/9 - 1
10-87933102-GAT-ATG c.343_345delinsATG p.D115M Missense 5/9 - 1
10-87933102-GAT-CAA c.343_345delinsCAA p.D115Q Missense 5/9 - 1
10-87933102-GA-TG c.343_344delinsTG p.D115C Missense 5/9 - 1
10-87933102-GA-TT c.343_344delinsTT p.D115F Missense 5/9 - 1
10-87933102-GAT-TGG c.343_345delinsTGG p.D115W Missense 5/9 - 1
10-87933102-G-C c.343G>C p.D115H Missense 5/9 - 1
10-87933102-G-T c.343G>T p.D115Y Missense 5/9 - 3
10-87933103-A-C c.344A>C p.D115A Missense 5/9 - 2
10-87933103-A-G c.344A>G p.D115G Missense 5/9 - 5
10-87933103-A-T c.344A>T p.D115V Missense 5/9 - 1
10-87933103-AT-TA c.344_345delinsTA p.D115V Missense 5/9 - 1
10-87933103-A-AT c.345dup p.D116* Nonsense 5/9 - 1
10-87933104-T-A c.345T>A p.D115E Missense 5/9 - 1
10-87933104-T-C c.345T>C p.D115= Synonymous 5/9 - 2
10-87933104-T-G c.345T>G p.D115E Missense 5/9 - 1
10-87933105-G-A c.346G>A p.D116N Missense 5/9 - 3
10-87933105-GA-AC c.346_347delinsAC p.D116T Missense 5/9 - 1
10-87933105-GA-AG c.346_347delinsAG p.D116S Missense 5/9 - 1
10-87933105-GA-AT c.346_347delinsAT p.D116I Missense 5/9 - 1
10-87933105-GAC-AAG c.346_348delinsAAG p.D116K Missense 5/9 - 1
10-87933105-GAC-ATG c.346_348delinsATG p.D116M Missense 5/9 - 1
10-87933105-GA-CC c.346_347delinsCC p.D116P Missense 5/9 - 1
10-87933105-GAC-CAA c.346_348delinsCAA p.D116Q Missense 5/9 - 1
10-87933105-GA-CG c.346_347delinsCG p.D116R Missense 5/9 - 1
10-87933105-GA-CT c.346_347delinsCT p.D116L Missense 5/9 - 1
10-87933105-GAC-TGG c.346_348delinsTGG p.D116W Missense 5/9 - 1
10-87933105-GA-TG c.346_347delinsTG p.D116C Missense 5/9 - 1
10-87933105-GA-TT c.346_347delinsTT p.D116F Missense 5/9 - 1
10-87933105-G-C c.346G>C p.D116H Missense 5/9 - 1
10-87933105-G-T c.346G>T p.D116Y Missense 5/9 - 1
10-87933105-TG-T c.346del p.D116Tfs*18 Frameshift 5/9 - 1
10-87933106-A-C c.347A>C p.D116A Missense 5/9 - 1
10-87933106-A-G c.347A>G p.D116G Missense 5/9 - 6
10-87933106-A-T c.347A>T p.D116V Missense 5/9 - 2
10-87933107-AC-A c.348del p.D116Efs*18 Frameshift 5/9 - 1
10-87933107-C-A c.348C>A p.D116E Missense 5/9 - 3
10-87933107-C-CT c.348_349insT p.N117* Nonsense 5/9 - 2
10-87933107-C-G c.348C>G p.D116E Missense 5/9 - 2
10-87933107-C-T c.348C>T p.D116= Synonymous 5/9 - 2
10-87933108-AA-CC c.349_350delinsCC p.N117P Missense 5/9 - 1
10-87933108-AA-CT c.349_350delinsCT p.N117L Missense 5/9 - 1
10-87933108-AA-GC c.349_350delinsGC p.N117A Missense 5/9 - 1
10-87933108-AA-GG c.349_350delinsGG p.N117G Missense 5/9 - 1
10-87933108-AA-GT c.349_350delinsGT p.N117V Missense 5/9 - 1
10-87933108-AAT-CAA c.349_351delinsCAA p.N117Q Missense 5/9 - 1
10-87933108-AA-TG c.349_350delinsTG p.N117C Missense 5/9 - 1
10-87933108-AAT-GAG c.349_351delinsGAG p.N117E Missense 5/9 - 1
10-87933108-AA-TT c.349_350inv p.N117F Missense 5/9 - 1
10-87933108-AAT-TGG c.349_351delinsTGG p.N117W Missense 5/9 - 1
10-87933108-A-C c.349A>C p.N117H Missense 5/9 - 5
10-87933108-A-G c.349A>G p.N117D Missense 5/9 - 5
10-87933108-A-T c.349A>T p.N117Y Missense 5/9 - 1
10-87933106-ACAATCATGTTG-A c.350_360del p.N117Sfs*5 Frameshift 5/9 - 2
10-87933107-C-CA c.350dup p.N117Kfs*9 Frameshift 5/9 - 6
10-87933109-A-C c.350A>C p.N117T Missense 5/9 - 2
10-87933109-A-G c.350A>G p.N117S Missense 5/9 - 11
10-87933109-A-T c.350A>T p.N117I Missense 5/9 - 1
10-87933109-AT-GG c.350_351delinsGG p.N117R Missense 5/9 - 1
10-87933109-AT-TG c.350_351delinsTG p.N117M Missense 5/9 - 1
10-87933110-T-A c.351T>A p.N117K Missense 5/9 - 1
10-87933110-T-C c.351T>C p.N117= Synonymous 5/9 - 1
10-87933110-T-G c.351T>G p.N117K Missense 5/9 - 1
10-87933111-C-A c.352C>A p.H118N Missense 5/9 - 2
10-87933111-CA-AC c.352_353delinsAC p.H118T Missense 5/9 - 1
10-87933111-CA-AG c.352_353delinsAG p.H118S Missense 5/9 - 1
10-87933111-CA-AT c.352_353delinsAT p.H118I Missense 5/9 - 1
10-87933111-CA-GC c.352_353delinsGC p.H118A Missense 5/9 - 1
10-87933111-CA-GG c.352_353delinsGG p.H118G Missense 5/9 - 1
10-87933111-CA-GT c.352_353delinsGT p.H118V Missense 5/9 - 1
10-87933111-CAT-AAG c.352_354delinsAAG p.H118K Missense 5/9 - 1
10-87933111-CAT-ATG c.352_354inv p.H118M Missense 5/9 - 1
10-87933111-CA-TG c.352_353inv p.H118C Missense 5/9 - 1
10-87933111-CAT-GAG c.352_354delinsGAG p.H118E Missense 5/9 - 1
10-87933111-CA-TT c.352_353delinsTT p.H118F Missense 5/9 - 1
10-87933111-CAT-TGG c.352_354delinsTGG p.H118W Missense 5/9 - 1
10-87933111-C-G c.352C>G p.H118D Missense 5/9 - 3
10-87933111-C-T c.352C>T p.H118Y Missense 5/9 - 4
10-87933111-TCATGTTGCAGCAATTC-T c.352_367del p.H118Tfs*11 Frameshift 5/9 - 1
10-87933111-TC-T c.352del p.H118Mfs*16 Frameshift 5/9 - 1
10-87933111-C-CA c.353dup p.H118Qfs*8 Frameshift 5/9 - 5
10-87933112-A-C c.353A>C p.H118P Missense 5/9 - 11
10-87933112-A-G c.353A>G p.H118R Missense 5/9 - 4
10-87933112-A-T c.353A>T p.H118L Missense 5/9 - 12
10-87933109-ATCATGTTGCAGCAAT-A c.354_368del p.V119_H123del InFrameDeletion 5/9 - 3
10-87933112-A-AT c.354dup p.V119Cfs*7 Frameshift 5/9 - 1
10-87933113-T-A c.354T>A p.H118Q Missense 5/9 - 1
10-87933113-T-C c.354T>C p.H118= Synonymous 5/9 - 1
10-87933113-T-G c.354T>G p.H118Q Missense 5/9 - 1
10-87933114-G-A c.355G>A p.V119I Missense 5/9 - 8
10-87933114-G-C c.355G>C p.V119L Missense 5/9 - 10
10-87933114-G-T c.355G>T p.V119F Missense 5/9 - 21
10-87933114-GT-AA c.355_356delinsAA p.V119N Missense 5/9 - 1
10-87933114-GT-AC c.355_356inv p.V119T Missense 5/9 - 1
10-87933114-GT-AG c.355_356delinsAG p.V119S Missense 5/9 - 1
10-87933114-GT-CA c.355_356delinsCA p.V119H Missense 5/9 - 1
10-87933114-GT-CC c.355_356delinsCC p.V119P Missense 5/9 - 1
10-87933114-GT-CG c.355_356delinsCG p.V119R Missense 5/9 - 1
10-87933114-GT-TA c.355_356delinsTA p.V119Y Missense 5/9 - 1
10-87933114-GTT-AAG c.355_357delinsAAG p.V119K Missense 5/9 - 1
10-87933114-GTT-ATG c.355_357delinsATG p.V119M Missense 5/9 - 1
10-87933114-GTT-CAA c.355_357delinsCAA p.V119Q Missense 5/9 - 1
10-87933114-GT-TG c.355_356delinsTG p.V119C Missense 5/9 - 1
10-87933114-GTT-TGG c.355_357delinsTGG p.V119W Missense 5/9 - 1
10-87933114-TG-T c.355del p.V119Lfs*15 Frameshift 5/9 - 2
10-87933115-T-A c.356T>A p.V119D Missense 5/9 - 4
10-87933115-T-C c.356T>C p.V119A Missense 5/9 - 7
10-87933115-T-G c.356T>G p.V119G Missense 5/9 - 2
10-87933115-TT-AG c.356_357delinsAG p.V119E Missense 5/9 - 1
10-87933114-G-GT c.357dup p.A120Cfs*6 Frameshift 5/9 - 1
10-87933114-GT-G c.357del p.A120Qfs*14 Frameshift 5/9 - 1
10-87933116-T-A c.357T>A p.V119= Synonymous 5/9 - 1
10-87933116-T-C c.357T>C p.V119= Synonymous 5/9 - 1
10-87933116-T-G c.357T>G p.V119= Synonymous 5/9 - 1
10-87933117-G-A c.358G>A p.A120T Missense 5/9 - 11
10-87933117-G-C c.358G>C p.A120P Missense 5/9 - 5
10-87933117-GC-AA c.358_359delinsAA p.A120K Missense 5/9 - 1
10-87933117-GCA-AAC c.358_360delinsAAC p.A120N Missense 5/9 - 1
10-87933117-GCA-ATG c.358_360delinsATG p.A120M Missense 5/9 - 1
10-87933117-GCA-CAT c.358_360delinsCAT p.A120H Missense 5/9 - 1
10-87933117-GC-AG c.358_359delinsAG p.A120R Missense 5/9 - 1
10-87933117-GC-AT c.358_359delinsAT p.A120I Missense 5/9 - 1
10-87933117-GCA-TAT c.358_360delinsTAT p.A120Y Missense 5/9 - 1
10-87933117-GCA-TGG c.358_360delinsTGG p.A120W Missense 5/9 - 1
10-87933117-GCA-TGT c.358_360delinsTGT p.A120C Missense 5/9 - 2
10-87933117-GCA-TTT c.358_360delinsTTT p.A120F Missense 5/9 - 1
10-87933117-GC-CA c.358_359delinsCA p.A120Q Missense 5/9 - 1
10-87933117-GC-CT c.358_359delinsCT p.A120L Missense 5/9 - 1
10-87933117-G-GA c.358_359insA p.A120Dfs*6 Frameshift 5/9 - 1
10-87933117-G-T c.358G>T p.A120S Missense 5/9 - 2
10-87933117-G-GC c.359dup p.A121Sfs*5 Frameshift 5/9 - 1
10-87933118-C-A c.359C>A p.A120E Missense 5/9 - 7
10-87933118-CA-AC c.359_360delinsAC p.A120D Missense 5/9 - 1
10-87933118-C-G c.359C>G p.A120G Missense 5/9 - 1
10-87933118-C-T c.359C>T p.A120V Missense 5/9 - 3
10-87933118-GCAGC-G c.359_362del p.A120Efs*13 Frameshift 5/9 - 1
10-87933119-A-C c.360A>C p.A120= Synonymous 5/9 - 5
10-87933119-A-G c.360A>G p.A120= Synonymous 5/9 - 2
10-87933119-A-T c.360A>T p.A120= Synonymous 5/9 - 2
10-87933120-AGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATT-A c.361_419del p.A121Tfs*39 InFrameDeletion 5/9 - 7
10-87933120-G-A c.361G>A p.A121T Missense 5/9 - 15
10-87933120-G-C c.361G>C p.A121P Missense 5/9 - 12
10-87933120-GC-AA c.361_362delinsAA p.A121K Missense 5/9 - 1
10-87933120-GCA-AAC c.361_363delinsAAC p.A121N Missense 5/9 - 1
10-87933120-GCA-ATG c.361_363delinsATG p.A121M Missense 5/9 - 1
10-87933120-GCA-CAT c.361_363delinsCAT p.A121H Missense 5/9 - 1
10-87933120-GC-AG c.361_362delinsAG p.A121R Missense 5/9 - 1
10-87933120-GC-AT c.361_362delinsAT p.A121I Missense 5/9 - 1
10-87933120-GCA-TAT c.361_363delinsTAT p.A121Y Missense 5/9 - 1
10-87933120-GCA-TGG c.361_363delinsTGG p.A121W Missense 5/9 - 1
10-87933120-GCA-TGT c.361_363delinsTGT p.A121C Missense 5/9 - 1
10-87933120-GCA-TTT c.361_363delinsTTT p.A121F Missense 5/9 - 1
10-87933120-GC-CA c.361_362delinsCA p.A121Q Missense 5/9 - 1
10-87933120-GC-CT c.361_362delinsCT p.A121L Missense 5/9 - 1
10-87933120-G-T c.361G>T p.A121S Missense 5/9 - 2
10-87933121-C-A c.362C>A p.A121E Missense 5/9 - 14
10-87933121-CA-AC c.362_363delinsAC p.A121D Missense 5/9 - 1
10-87933121-C-G c.362C>G p.A121G Missense 5/9 - 6
10-87933121-C-T c.362C>T p.A121V Missense 5/9 - 3
10-87933122-A-C c.363A>C p.A121= Synonymous 5/9 - 1
10-87933122-A-G c.363A>G p.A121= Synonymous 5/9 - 2
10-87933122-A-T c.363A>T p.A121= Synonymous 5/9 - 1
10-87933120-GCAATT-G c.364_368del p.I122Lfs*2 Frameshift 5/9 - 2
10-87933121-C-CA c.364dup p.I122Nfs*4 Frameshift 5/9 - 2
10-87933123-AATTCACTGTAAAGC-A c.364_377del p.I122Wfs*53 Frameshift 5/9 - 2
10-87933123-A-C c.364A>C p.I122L Missense 5/9 - 4
10-87933123-A-G c.364A>G p.I122V Missense 5/9 - 9
10-87933123-A-T c.364A>T p.I122F Missense 5/9 - 4
10-87933123-AT-CA c.364_365delinsCA p.I122H Missense 5/9 - 1
10-87933123-AT-CC c.364_365delinsCC p.I122P Missense 5/9 - 1
10-87933123-AT-GA c.364_365delinsGA p.I122D Missense 5/9 - 1
10-87933123-AT-GC c.364_365delinsGC p.I122A Missense 5/9 - 1
10-87933123-AT-GG c.364_365delinsGG p.I122G Missense 5/9 - 1
10-87933123-AT-TA c.364_365delinsTA p.I122Y Missense 5/9 - 1
10-87933123-ATT-CAA c.364_366delinsCAA p.I122Q Missense 5/9 - 1
10-87933123-AT-TG c.364_365delinsTG p.I122C Missense 5/9 - 1
10-87933123-ATT-GAG c.364_366delinsGAG p.I122E Missense 5/9 - 1
10-87933123-ATT-TGG c.364_366delinsTGG p.I122W Missense 5/9 - 1
10-87933121-CAATTCACTGTA-C c.365_375del p.I122Sfs*54 Frameshift 5/9 - 1
10-87933124-T-A c.365T>A p.I122N Missense 5/9 - 8
10-87933124-T-C c.365T>C p.I122T Missense 5/9 - 6
10-87933124-T-G c.365T>G p.I122S Missense 5/9 - 13
10-87933124-TT-AG c.365_366delinsAG p.I122K Missense 5/9 - 1
10-87933124-TT-GG c.365_366delinsGG p.I122R Missense 5/9 - 1
10-87933123-A-AT c.366dup p.H123Sfs*3 Frameshift 5/9 - 4
10-87933125-T-A c.366T>A p.I122= Synonymous 5/9 - 1
10-87933125-T-C c.366T>C p.I122= Synonymous 5/9 - 1
10-87933125-T-G c.366T>G p.I122M Missense 5/9 - 4
10-87933126-C-A c.367C>A p.H123N Missense 5/9 - 1
10-87933126-CA-AC c.367_368delinsAC p.H123T Missense 5/9 - 1
10-87933126-CA-AG c.367_368delinsAG p.H123S Missense 5/9 - 1
10-87933126-CA-AT c.367_368delinsAT p.H123I Missense 5/9 - 1
10-87933126-CAC-AAG c.367_369delinsAAG p.H123K Missense 5/9 - 1
10-87933126-CAC-ATG c.367_369delinsATG p.H123M Missense 5/9 - 1
10-87933126-CAC-GAG c.367_369delinsGAG p.H123E Missense 5/9 - 1
10-87933126-CAC-TGG c.367_369delinsTGG p.H123W Missense 5/9 - 1
10-87933126-CA-GC c.367_368delinsGC p.H123A Missense 5/9 - 1
10-87933126-CA-GG c.367_368delinsGG p.H123G Missense 5/9 - 1
10-87933126-CA-GT c.367_368delinsGT p.H123V Missense 5/9 - 1
10-87933126-CA-TG c.367_368inv p.H123C Missense 5/9 - 1
10-87933126-CA-TT c.367_368delinsTT p.H123F Missense 5/9 - 1
10-87933126-C-G c.367C>G p.H123D Missense 5/9 - 34
10-87933126-C-T c.367C>T p.H123Y Missense 5/9 - 54
10-87933127-A-C c.368A>C p.H123P Missense 5/9 - 3
10-87933127-A-G c.368A>G p.H123R Missense 5/9 - 17
10-87933127-A-T c.368A>T p.H123L Missense 5/9 - 9
10-87933127-A-AC c.369dup p.C124Lfs*2 Frameshift 5/9 - 1
10-87933128-ACTGT-A c.369_372del p.H123Qfs*10 Frameshift 5/9 - 1
10-87933128-C-A c.369C>A p.H123Q Missense 5/9 - 11
10-87933128-C-G c.369C>G p.H123Q Missense 5/9 - 17
10-87933128-C-T c.369C>T p.H123= Synonymous 5/9 - 4
10-87933128-C-CT c.370dup p.C124Lfs*2 Frameshift 5/9 - 2
10-87933129-CT-C c.370del p.C124Vfs*10 Frameshift 5/9 - 2
10-87933129-T-A c.370T>A p.C124S Missense 5/9 - 142
10-87933129-T-C c.370T>C p.C124R Missense 5/9 - 44
10-87933129-T-G c.370T>G p.C124G Missense 5/9 - 24
10-87933129-TG-AA c.370_371delinsAA p.C124N Missense 5/9 - 5
10-87933129-TG-AC c.370_371delinsAC p.C124T Missense 5/9 - 3
10-87933129-TG-AT c.370_371delinsAT p.C124I Missense 5/9 - 1
10-87933129-TG-CA c.370_371inv p.C124H Missense 5/9 - 1
10-87933129-TG-CC c.370_371delinsCC p.C124P Missense 5/9 - 1
10-87933129-TG-CT c.370_371delinsCT p.C124L Missense 5/9 - 1
10-87933129-TG-GA c.370_371delinsGA p.C124D Missense 5/9 - 1
10-87933129-TG-GC c.370_371delinsGC p.C124A Missense 5/9 - 15
10-87933129-TG-GT c.370_371delinsGT p.C124V Missense 5/9 - 1
10-87933129-TGT-AAG c.370_372delinsAAG p.C124K Missense 5/9 - 1
10-87933129-TGT-ATG c.370_372delinsATG p.C124M Missense 5/9 - 1
10-87933129-TGT-CAA c.370_372delinsCAA p.C124Q Missense 5/9 - 1
10-87933129-TGT-GAG c.370_372delinsGAG p.C124E Missense 5/9 - 1
10-87933129-T-TAA c.370_371insAA p.C124* Nonsense 5/9 - 1
10-87933129-T-TTG c.370_371insTG p.C124Lfs*11 Frameshift 5/9 - 1
10-87933130-G-C c.371G>C p.C124S Missense 5/9 - 313
10-87933130-G-A c.371G>A p.C124Y Missense 5/9 - 20
10-87933130-G-T c.371G>T p.C124F Missense 5/9 - 13
10-87933130-G-GT c.372dup p.K125* Nonsense 5/9 - 1
10-87933131-T-C c.372T>C p.C124= Synonymous 5/9 - 2
10-87933131-T-G c.372T>G p.C124W Missense 5/9 - 6
10-87933131-T-TGG c.372_373insGG p.K125Gfs*10 Frameshift 5/9 - 2
10-87933132-AAA-CAT c.373_375delinsCAT p.K125H Missense 5/9 - 1
10-87933132-AAA-GAC c.373_375delinsGAC p.K125D Missense 5/9 - 1
10-87933132-AAA-TAT c.373_375delinsTAT p.K125Y Missense 5/9 - 1
10-87933132-AAA-TGG c.373_375delinsTGG p.K125W Missense 5/9 - 1
10-87933132-AAA-TGT c.373_375delinsTGT p.K125C Missense 5/9 - 1
10-87933132-AAA-TTT c.373_375inv p.K125F Missense 5/9 - 1
10-87933132-AA-CC c.373_374delinsCC p.K125P Missense 5/9 - 1
10-87933132-AA-CT c.373_374delinsCT p.K125L Missense 5/9 - 6
10-87933132-AA-GC c.373_374delinsGC p.K125A Missense 5/9 - 1
10-87933132-AA-GG c.373_374delinsGG p.K125G Missense 5/9 - 1
10-87933132-AA-GT c.373_374delinsGT p.K125V Missense 5/9 - 1
10-87933132-A-C c.373A>C p.K125Q Missense 5/9 - 3
10-87933132-A-G c.373A>G p.K125E Missense 5/9 - 21
10-87933132-A-T c.373A>T p.K125* Nonsense 5/9 - 2
10-87933133-AA-GC c.374_375delinsGC p.K125S Missense 5/9 - 1
10-87933133-AA-TG c.374_375delinsTG p.K125M Missense 5/9 - 5
10-87933133-A-C c.374A>C p.K125T Missense 5/9 - 8
10-87933133-A-G c.374A>G p.K125R Missense 5/9 - 8
10-87933133-A-T c.374A>T p.K125I Missense 5/9 - 3
10-87933131-TA-T c.375del p.A126Lfs*8 Frameshift 5/9 - 2
10-87933131-T-TA c.375dup p.A126Sfs*54 Frameshift 5/9 - 1
10-87933133-A-AATTT c.375_376insTTTA p.A126Ffs*55 Frameshift 5/9 - 1
10-87933134-AAG-A c.375_376del p.K125Nfs*54 Frameshift 5/9 - 1
10-87933134-A-C c.375A>C p.K125N Missense 5/9 - 12
10-87933134-A-G c.375A>G p.K125= Synonymous 5/9 - 2
10-87933134-A-T c.375A>T p.K125N Missense 5/9 - 8
10-87933135-AG-A c.376del p.A126Lfs*8 Frameshift 5/9 - 2
10-87933135-G-A c.376G>A p.A126T Missense 5/9 - 47
10-87933135-G-C c.376G>C p.A126P Missense 5/9 - 12
10-87933135-GC-AA c.376_377delinsAA p.A126N Missense 5/9 - 1
10-87933135-GC-AT c.376_377delinsAT p.A126I Missense 5/9 - 1
10-87933135-GC-CA c.376_377delinsCA p.A126H Missense 5/9 - 1
10-87933135-GC-CG c.376_377delinsCG p.A126R Missense 5/9 - 1
10-87933135-GC-CT c.376_377delinsCT p.A126L Missense 5/9 - 1
10-87933135-GC-TA c.376_377delinsTA p.A126Y Missense 5/9 - 1
10-87933135-GCT-AAG c.376_378delinsAAG p.A126K Missense 5/9 - 1
10-87933135-GCT-ATG c.376_378delinsATG p.A126M Missense 5/9 - 1
10-87933135-GCT-CAA c.376_378delinsCAA p.A126Q Missense 5/9 - 1
10-87933135-GC-TG c.376_377delinsTG p.A126C Missense 5/9 - 1
10-87933135-GC-TT c.376_377delinsTT p.A126F Missense 5/9 - 1
10-87933135-GCT-TGG c.376_378delinsTGG p.A126W Missense 5/9 - 1
10-87933135-G-T c.376G>T p.A126S Missense 5/9 - 34
10-87933136-C-A c.377C>A p.A126D Missense 5/9 - 28
10-87933136-C-G c.377C>G p.A126G Missense 5/9 - 26
10-87933136-C-T c.377C>T p.A126V Missense 5/9 - 34
10-87933136-CT-AG c.377_378inv p.A126E Missense 5/9 - 1
10-87933136-GC-G c.377del p.A126Vfs*8 Frameshift 5/9 - 1
10-87933134-AGCTGGAAAGGGACGAACTGGTGTAATGATATGT-A c.378_410del p.G127_A137del InFrameDeletion 5/9 - 1
10-87933137-T-A c.378T>A p.A126= Synonymous 5/9 - 2
10-87933137-T-C c.378T>C p.A126= Synonymous 5/9 - 2
10-87933137-T-G c.378T>G p.A126= Synonymous 5/9 - 2
10-87933138-G-A c.379G>A p.G127R Missense 5/9 - 41
10-87933138-G-C c.379G>C p.G127R Missense 5/9 - 23
10-87933138-GG-AA c.379_380delinsAA p.G127K Missense 5/9 - 1
10-87933138-GGA-AAC c.379_381delinsAAC p.G127N Missense 5/9 - 5
10-87933138-GGA-AGC c.379_381delinsAGC p.G127S Missense 5/9 - 1
10-87933138-GGA-ATG c.379_381delinsATG p.G127M Missense 5/9 - 1
10-87933138-GG-AC c.379_380delinsAC p.G127T Missense 5/9 - 1
10-87933138-GGA-CAT c.379_381delinsCAT p.G127H Missense 5/9 - 1
10-87933138-GG-AT c.379_380delinsAT p.G127I Missense 5/9 - 1
10-87933138-GGA-TAT c.379_381delinsTAT p.G127Y Missense 5/9 - 1
10-87933138-GGA-TGG c.379_381delinsTGG p.G127W Missense 5/9 - 1
10-87933138-GGA-TGT c.379_381delinsTGT p.G127C Missense 5/9 - 1
10-87933138-GGA-TTT c.379_381delinsTTT p.G127F Missense 5/9 - 1
10-87933138-GG-CA c.379_380delinsCA p.G127Q Missense 5/9 - 1
10-87933138-GG-CC c.379_380inv p.G127P Missense 5/9 - 1
10-87933138-GG-CT c.379_380delinsCT p.G127L Missense 5/9 - 1
10-87933138-G-T c.379G>T p.G127* Nonsense 5/9 - 8
10-87933138-TGGAAAGGGA-T c.379_387del p.G127_G129del InFrameDeletion 5/9 - 1
10-87933137-TG-T c.380del p.G127Efs*7 Frameshift 5/9 - 5
10-87933139-G-A c.380G>A p.G127E Missense 5/9 - 43
10-87933139-GA-AC c.380_381delinsAC p.G127D Missense 5/9 - 2
10-87933139-G-C c.380G>C p.G127A Missense 5/9 - 4
10-87933139-G-T c.380G>T p.G127V Missense 5/9 - 29
10-87933140-A-C c.381A>C p.G127= Synonymous 5/9 - 1
10-87933140-A-G c.381A>G p.G127= Synonymous 5/9 - 3
10-87933140-A-T c.381A>T p.G127= Synonymous 5/9 - 1
10-87933140-GAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACATCGGGGCAAATTTTTAA-G c.382_440del p.K128Gfs*32 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 5/9 - 1
10-87933141-AA-CC c.382_383delinsCC p.K128P Missense 5/9 - 1
10-87933141-AA-CT c.382_383delinsCT p.K128L Missense 5/9 - 1
10-87933141-AA-GC c.382_383delinsGC p.K128A Missense 5/9 - 1
10-87933141-AAG-CAT c.382_384delinsCAT p.K128H Missense 5/9 - 2
10-87933141-AA-GG c.382_383delinsGG p.K128G Missense 5/9 - 1
10-87933141-AAG-GAC c.382_384delinsGAC p.K128D Missense 5/9 - 1
10-87933141-AA-GT c.382_383delinsGT p.K128V Missense 5/9 - 1
10-87933141-AAG-TAT c.382_384delinsTAT p.K128Y Missense 5/9 - 1
10-87933141-AAG-TGT c.382_384delinsTGT p.K128C Missense 5/9 - 1
10-87933141-AAG-TTT c.382_384delinsTTT p.K128F Missense 5/9 - 1
10-87933141-AA-TG c.382_383delinsTG p.K128W Missense 5/9 - 1
10-87933141-A-C c.382A>C p.K128Q Missense 5/9 - 16
10-87933141-A-G c.382A>G p.K128E Missense 5/9 - 12
10-87933141-A-T c.382A>T p.K128* Nonsense 5/9 - 4
10-87933138-GGAAAGGGAC-G c.383_391del p.K128_R130del InFrameDeletion 5/9 - 11
10-87933142-A-C c.383A>C p.K128T Missense 5/9 - 11
10-87933142-A-G c.383A>G p.K128R Missense 5/9 - 11
10-87933142-AG-GC c.383_384delinsGC p.K128S Missense 5/9 - 1
10-87933142-AG-TC c.383_384delinsTC p.K128I Missense 5/9 - 1
10-87933142-A-T c.383A>T p.K128M Missense 5/9 - 5
10-87933143-G-A c.384G>A p.K128= Synonymous 5/9 - 1
10-87933143-G-C c.384G>C p.K128N Missense 5/9 - 28
10-87933143-G-T c.384G>T p.K128N Missense 5/9 - 34
10-87933144-G-A c.385G>A p.G129R Missense 5/9 - 112
10-87933144-G-C c.385G>C p.G129R Missense 5/9 - 88
10-87933144-G-GA c.385_386insA p.G129Efs*51 Frameshift 5/9 - 1
10-87933144-GG-AA c.385_386delinsAA p.G129K Missense 5/9 - 1
10-87933144-GGA-AAC c.385_387delinsAAC p.G129N Missense 5/9 - 1
10-87933144-GGA-AGC c.385_387delinsAGC p.G129S Missense 5/9 - 2
10-87933144-GGA-ATG c.385_387delinsATG p.G129M Missense 5/9 - 1
10-87933144-GG-AC c.385_386delinsAC p.G129T Missense 5/9 - 1
10-87933144-GGA-CAT c.385_387delinsCAT p.G129H Missense 5/9 - 1
10-87933144-GG-AT c.385_386delinsAT p.G129I Missense 5/9 - 1
10-87933144-GGA-TAT c.385_387delinsTAT p.G129Y Missense 5/9 - 1
10-87933144-GGA-TGG c.385_387delinsTGG p.G129W Missense 5/9 - 1
10-87933144-GGA-TGT c.385_387delinsTGT p.G129C Missense 5/9 - 2
10-87933144-GGA-TTT c.385_387delinsTTT p.G129F Missense 5/9 - 1
10-87933144-GG-CA c.385_386delinsCA p.G129Q Missense 5/9 - 2
10-87933144-GG-CC c.385_386inv p.G129P Missense 5/9 - 1
10-87933144-GG-CT c.385_386delinsCT p.G129L Missense 5/9 - 1
10-87933144-G-T c.385G>T p.G129* Nonsense 5/9 - 21
10-87933145-G-A c.386G>A p.G129E Missense 5/9 - 263
10-87933145-GA-AC c.386_387delinsAC p.G129D Missense 5/9 - 5
10-87933145-G-C c.386G>C p.G129A Missense 5/9 - 5
10-87933145-G-T c.386G>T p.G129V Missense 5/9 - 25
10-87933146-A-C c.387A>C p.G129= Synonymous 5/9 - 1
10-87933146-A-G c.387A>G p.G129= Synonymous 5/9 - 3
10-87933146-A-T c.387A>T p.G129= Synonymous 5/9 - 1
10-87933146-GAC-G c.387_388del p.R130Nfs*49 Frameshift 5/9 - 1
10-87933146-GA-G c.387del p.R130Efs*4 Frameshift 5/9 - 1
10-87933144-GGAC-G c.388_390del p.R130del InFrameDeletion 5/9 - 3
10-87933147-AC-A c.388del p.R130Efs*4 Frameshift 5/9 - 2
10-87933147-C-A c.388C>A p.R130= Synonymous 5/9 - 4
10-87933147-C-AGGAG c.388delinsAGGAG p.T131Rfs*50 Frameshift 5/9 - 1
10-87933147-C-G c.388C>G p.R130G Missense 5/9 - 184
10-87933147-CG-AA c.388_389delinsAA p.R130K Missense 5/9 - 5
10-87933147-CGA-AAC c.388_390delinsAAC p.R130N Missense 5/9 - 1
10-87933147-CGA-AGC c.388_390delinsAGC p.R130S Missense 5/9 - 1
10-87933147-CGA-ATG c.388_390delinsATG p.R130M Missense 5/9 - 2
10-87933147-CG-AC c.388_389delinsAC p.R130T Missense 5/9 - 1
10-87933147-CGA-GAC c.388_390delinsGAC p.R130D Missense 5/9 - 1
10-87933147-CG-AT c.388_389delinsAT p.R130I Missense 5/9 - 1
10-87933147-CGA-TAT c.388_390delinsTAT p.R130Y Missense 5/9 - 1
10-87933147-CGA-TGG c.388_390delinsTGG p.R130W Missense 5/9 - 2
10-87933147-CGA-TGT c.388_390delinsTGT p.R130C Missense 5/9 - 3
10-87933147-CGA-TTT c.388_390delinsTTT p.R130F Missense 5/9 - 1
10-87933147-CG-GA c.388_389delinsGA p.R130E Missense 5/9 - 2
10-87933147-CG-GC c.388_389delinsGC p.R130A Missense 5/9 - 4
10-87933147-CG-GT c.388_389delinsGT p.R130V Missense 5/9 - 1
10-87933147-C-T c.388C>T p.R130* Nonsense 5/9 - 284
10-87933149-A-C c.390A>C p.R130= Synonymous 5/9 - 3
10-87933149-A-T c.390A>T p.R130= Synonymous 5/9 - 3
10-87933145-GACGA-G c.389_392del p.R130Lfs*3 Frameshift 5/9 - 2
10-87933146-A-ACGCC c.389_390insCCCG p.T131Pfs*50 Frameshift 5/9 - 2
10-87933148-CG-C c.389del p.R130Qfs*4 Frameshift 5/9 - 23
10-87933148-G-A c.389G>A p.R130Q Missense 5/9 - 315
10-87933148-GA-AT c.389_390delinsAT p.R130H Missense 5/9 - 1
10-87933148-G-C c.389G>C p.R130P Missense 5/9 - 69
10-87933148-G-T c.389G>T p.R130L Missense 5/9 - 91
10-87933149-A-G c.390A>G p.R130= Synonymous 5/9 - 8
10-87933148-GA-G c.391del p.T131Lfs*3 Frameshift 5/9 - 4
10-87933150-A-C c.391A>C p.T131P Missense 5/9 - 6
10-87933150-AC-CA c.391_392delinsCA p.T131H Missense 5/9 - 1
10-87933150-AC-CT c.391_392delinsCT p.T131L Missense 5/9 - 5
10-87933150-AC-GA c.391_392delinsGA p.T131D Missense 5/9 - 1
10-87933150-AC-GG c.391_392delinsGG p.T131G Missense 5/9 - 1
10-87933150-AC-GT c.391_392inv p.T131V Missense 5/9 - 1
10-87933150-AC-TA c.391_392delinsTA p.T131Y Missense 5/9 - 1
10-87933150-ACT-CAA c.391_393delinsCAA p.T131Q Missense 5/9 - 1
10-87933150-AC-TG c.391_392delinsTG p.T131C Missense 5/9 - 1
10-87933150-ACT-GAG c.391_393delinsGAG p.T131E Missense 5/9 - 1
10-87933150-AC-TT c.391_392delinsTT p.T131F Missense 5/9 - 1
10-87933150-ACT-TAA c.391_393delinsTAA p.T131* Nonsense 5/9 - 1
10-87933150-ACT-TGG c.391_393delinsTGG p.T131W Missense 5/9 - 1
10-87933150-A-G c.391A>G p.T131A Missense 5/9 - 17
10-87933150-A-T c.391A>T p.T131S Missense 5/9 - 5
10-87933151-C-A c.392C>A p.T131N Missense 5/9 - 11
10-87933151-C-G c.392C>G p.T131S Missense 5/9 - 5
10-87933151-C-T c.392C>T p.T131I Missense 5/9 - 31
10-87933151-CT-AG c.392_393inv p.T131K Missense 5/9 - 1
10-87933151-CT-GG c.392_393delinsGG p.T131R Missense 5/9 - 1
10-87933151-CT-TG c.392_393delinsTG p.T131M Missense 5/9 - 1
10-87933152-T-A c.393T>A p.T131= Synonymous 5/9 - 1
10-87933152-T-C c.393T>C p.T131= Synonymous 5/9 - 1
10-87933152-T-G c.393T>G p.T131= Synonymous 5/9 - 1
10-87933153-G-A c.394G>A p.G132S Missense 5/9 - 21
10-87933153-G-C c.394G>C p.G132R Missense 5/9 - 6
10-87933153-GG-AA c.394_395delinsAA p.G132N Missense 5/9 - 1
10-87933153-GG-AC c.394_395delinsAC p.G132T Missense 5/9 - 1
10-87933153-GG-AT c.394_395delinsAT p.G132I Missense 5/9 - 1
10-87933153-GG-CA c.394_395delinsCA p.G132H Missense 5/9 - 1
10-87933153-GG-CC c.394_395inv p.G132P Missense 5/9 - 1
10-87933153-GG-CT c.394_395delinsCT p.G132L Missense 5/9 - 1
10-87933153-GG-TA c.394_395delinsTA p.G132Y Missense 5/9 - 1
10-87933153-GGT-AAG c.394_396delinsAAG p.G132K Missense 5/9 - 1
10-87933153-GGT-ATG c.394_396delinsATG p.G132M Missense 5/9 - 1
10-87933153-GGT-CAA c.394_396delinsCAA p.G132Q Missense 5/9 - 1
10-87933153-GG-TT c.394_395delinsTT p.G132F Missense 5/9 - 2
10-87933153-GGT-TGA c.394_396delinsTGA p.G132* Nonsense 5/9 - 1
10-87933153-GGT-TGG c.394_396delinsTGG p.G132W Missense 5/9 - 1
10-87933153-G-T c.394G>T p.G132C Missense 5/9 - 7
10-87933151-CTGG-C c.395_397del p.G132del InFrameDeletion 5/9 - 5
10-87933152-TG-T c.395del p.G132Vfs*2 Frameshift 5/9 - 1
10-87933154-G-A c.395G>A p.G132D Missense 5/9 - 84
10-87933154-G-C c.395G>C p.G132A Missense 5/9 - 7
10-87933154-G-T c.395G>T p.G132V Missense 5/9 - 45
10-87933154-GT-AG c.395_396delinsAG p.G132E Missense 5/9 - 1
10-87933155-GT-G c.396del p.V133* Frameshift 5/9 - 1
10-87933155-T-A c.396T>A p.G132= Synonymous 5/9 - 1
10-87933155-T-C c.396T>C p.G132= Synonymous 5/9 - 1
10-87933155-T-G c.396T>G p.G132= Synonymous 5/9 - 1
10-87933156-G-A c.397G>A p.V133I Missense 5/9 - 22
10-87933156-G-C c.397G>C p.V133L Missense 5/9 - 1
10-87933156-G-T c.397G>T p.V133L Missense 5/9 - 1
10-87933156-GT-AA c.397_398delinsAA p.V133K Missense 5/9 - 1
10-87933156-GTA-AAC c.397_399delinsAAC p.V133N Missense 5/9 - 1
10-87933156-GTA-ATG c.397_399delinsATG p.V133M Missense 5/9 - 1
10-87933156-GT-AC c.397_398inv p.V133T Missense 5/9 - 1
10-87933156-GTA-CAT c.397_399delinsCAT p.V133H Missense 5/9 - 1
10-87933156-GT-AG c.397_398delinsAG p.V133R Missense 5/9 - 1
10-87933156-GTA-TAT c.397_399delinsTAT p.V133Y Missense 5/9 - 1
10-87933156-GTA-TGG c.397_399delinsTGG p.V133W Missense 5/9 - 1
10-87933156-GTA-TGT c.397_399delinsTGT p.V133C Missense 5/9 - 1
10-87933156-GTA-TTT c.397_399delinsTTT p.V133F Missense 5/9 - 1
10-87933156-GT-CA c.397_398delinsCA p.V133Q Missense 5/9 - 1
10-87933156-GT-CC c.397_398delinsCC p.V133P Missense 5/9 - 1
10-87933156-GT-TC c.397_398delinsTC p.V133S Missense 5/9 - 1
10-87933157-T-A c.398T>A p.V133E Missense 5/9 - 2
10-87933157-TA-AC c.398_399delinsAC p.V133D Missense 5/9 - 1
10-87933157-T-C c.398T>C p.V133A Missense 5/9 - 1
10-87933157-T-G c.398T>G p.V133G Missense 5/9 - 2
10-87933159-A-C c.400A>C p.M134L Missense 5/9 - 11
10-87933159-A-G c.400A>G p.M134V Missense 5/9 - 5
10-87933159-A-T c.400A>T p.M134L Missense 5/9 - 12
10-87933159-AT-CA c.400_401delinsCA p.M134Q Missense 5/9 - 1
10-87933159-AT-CC c.400_401delinsCC p.M134P Missense 5/9 - 1
10-87933159-AT-GA c.400_401delinsGA p.M134E Missense 5/9 - 1
10-87933159-AT-GC c.400_401delinsGC p.M134A Missense 5/9 - 1
10-87933159-ATG-CAT c.400_402inv p.M134H Missense 5/9 - 1
10-87933159-AT-GG c.400_401delinsGG p.M134G Missense 5/9 - 1
10-87933159-ATG-GAC c.400_402delinsGAC p.M134D Missense 5/9 - 1
10-87933159-ATG-TAT c.400_402delinsTAT p.M134Y Missense 5/9 - 1
10-87933159-ATG-TGT c.400_402delinsTGT p.M134C Missense 5/9 - 2
10-87933159-ATG-TTT c.400_402delinsTTT p.M134F Missense 5/9 - 1
10-87933159-AT-TG c.400_401delinsTG p.M134W Missense 5/9 - 1
10-87933160-T-A c.401T>A p.M134K Missense 5/9 - 3
10-87933160-T-C c.401T>C p.M134T Missense 5/9 - 24
10-87933160-T-G c.401T>G p.M134R Missense 5/9 - 7
10-87933160-TG-AC c.401_402delinsAC p.M134N Missense 5/9 - 1
10-87933160-TG-GC c.401_402delinsGC p.M134S Missense 5/9 - 1
10-87933158-AATG-A c.402_404del p.M134del InFrameDeletion 5/9 - 10
10-87933161-G-A c.402G>A p.M134I Missense 5/9 - 38
10-87933161-G-C c.402G>C p.M134I Missense 5/9 - 46
10-87933161-G-GT c.402_403insT p.I135Yfs*45 Frameshift 5/9 - 1
10-87933161-G-T c.402G>T p.M134I Missense 5/9 - 43
10-87933161-TG-T c.402del p.M134Ifs*13 Frameshift 5/9 - 2
10-87933158-AATGAT-A c.403_407del p.I135Cfs*43 Frameshift 5/9 - 3
10-87933162-A-C c.403A>C p.I135L Missense 5/9 - 4
10-87933162-A-G c.403A>G p.I135V Missense 5/9 - 33
10-87933162-A-T c.403A>T p.I135L Missense 5/9 - 3
10-87933162-ATA-CAT c.403_405delinsCAT p.I135H Missense 5/9 - 1
10-87933162-ATA-GAC c.403_405delinsGAC p.I135D Missense 5/9 - 1
10-87933162-ATA-TAT c.403_405inv p.I135Y Missense 5/9 - 1
10-87933162-ATA-TGG c.403_405delinsTGG p.I135W Missense 5/9 - 1
10-87933162-ATA-TGT c.403_405delinsTGT p.I135C Missense 5/9 - 1
10-87933162-ATA-TTT c.403_405delinsTTT p.I135F Missense 5/9 - 1
10-87933162-AT-CA c.403_404delinsCA p.I135Q Missense 5/9 - 1
10-87933162-AT-CC c.403_404delinsCC p.I135P Missense 5/9 - 1
10-87933162-AT-GA c.403_404delinsGA p.I135E Missense 5/9 - 1
10-87933162-AT-GC c.403_404delinsGC p.I135A Missense 5/9 - 1
10-87933162-AT-GG c.403_404delinsGG p.I135G Missense 5/9 - 1
10-87933161-G-GATT c.404_405insTAT p.I135dup InFrameInsertion 5/9 - 3
10-87933162-A-AT c.404dup p.C136Mfs*44 Frameshift 5/9 - 1
10-87933163-ATATGTG-A c.404_409del p.I135_A137delinsT MultiAAMissense 5/9 - 1
10-87933163-T-A c.404T>A p.I135K Missense 5/9 - 27
10-87933163-TA-AC c.404_405delinsAC p.I135N Missense 5/9 - 2
10-87933163-TA-GC c.404_405delinsGC p.I135S Missense 5/9 - 1
10-87933163-T-C c.404T>C p.I135T Missense 5/9 - 8
10-87933163-T-G c.404T>G p.I135R Missense 5/9 - 4
10-87933161-GAT-G c.405_406del p.I135Mfs*44 Frameshift 5/9 - 2
10-87933163-T-TA c.405dup p.C136Mfs*44 Frameshift 5/9 - 25
10-87933164-A-C c.405A>C p.I135= Synonymous 5/9 - 1
10-87933164-A-G c.405A>G p.I135M Missense 5/9 - 4
10-87933164-A-T c.405A>T p.I135= Synonymous 5/9 - 4
10-87933164-TA-T c.405del p.C136Vfs*11 Frameshift 5/9 - 2
10-87933164-A-AT c.406dup p.C136Lfs*44 Frameshift 5/9 - 1
10-87933165-AT-A c.406del p.C136Vfs*11 Frameshift 5/9 - 2
10-87933165-T-A c.406T>A p.C136S Missense 5/9 - 2
10-87933165-T-C c.406T>C p.C136R Missense 5/9 - 89
10-87933165-T-G c.406T>G p.C136G Missense 5/9 - 2
10-87933165-TG-AA c.406_407delinsAA p.C136N Missense 5/9 - 1
10-87933165-TG-AC c.406_407delinsAC p.C136T Missense 5/9 - 1
10-87933165-TG-AT c.406_407delinsAT p.C136I Missense 5/9 - 1
10-87933165-TG-CA c.406_407inv p.C136H Missense 5/9 - 1
10-87933165-TG-CC c.406_407delinsCC p.C136P Missense 5/9 - 1
10-87933165-TG-CT c.406_407delinsCT p.C136L Missense 5/9 - 1
10-87933165-TG-GA c.406_407delinsGA p.C136D Missense 5/9 - 1
10-87933165-TG-GC c.406_407delinsGC p.C136A Missense 5/9 - 2
10-87933165-TG-GT c.406_407delinsGT p.C136V Missense 5/9 - 1
10-87933165-TGT-AAG c.406_408delinsAAG p.C136K Missense 5/9 - 1
10-87933165-TGT-ATG c.406_408delinsATG p.C136M Missense 5/9 - 1
10-87933165-TGT-CAA c.406_408delinsCAA p.C136Q Missense 5/9 - 1
10-87933165-TGT-GAG c.406_408delinsGAG p.C136E Missense 5/9 - 1
10-87933165-T-TA c.406_407insA p.C136* Nonsense 5/9 - 1
10-87933166-G-C c.407G>C p.C136S Missense 5/9 - 2
10-87933162-ATATGTGCATATTTATTACATCGGGGCAAATTTTTAAAGGCACAAGAGGCCCTAGATTTC-A c.408_466del p.C136Wfs*24 InFrameDeletion 5/9 - 1
10-87933163-TATGTGCATATTTATTAC-T c.407_423del p.C136Sfs*38 Frameshift 5/9 - 2
10-87933166-G-A c.407G>A p.C136Y Missense 5/9 - 78
10-87933166-G-T c.407G>T p.C136F Missense 5/9 - 29
10-87933167-T-A c.408T>A p.C136* Nonsense 5/9 - 7
10-87933167-T-C c.408T>C p.C136= Synonymous 5/9 - 2
10-87933167-T-G c.408T>G p.C136W Missense 5/9 - 12
10-87933166-GTGCATATTTAT-G c.409_419del p.A137Tfs*39 Frameshift 5/9 - 1
10-87933167-T-TGGTATG c.409_410insGTATGG p.C136_A137insGM InFrameInsertion 5/9 - 1
10-87933168-G-A c.409G>A p.A137T Missense 5/9 - 6
10-87933168-G-C c.409G>C p.A137P Missense 5/9 - 1
10-87933168-GC-AA c.409_410delinsAA p.A137K Missense 5/9 - 1
10-87933168-GCA-AAC c.409_411delinsAAC p.A137N Missense 5/9 - 1
10-87933168-GCA-ATG c.409_411delinsATG p.A137M Missense 5/9 - 1
10-87933168-GCA-CAT c.409_411delinsCAT p.A137H Missense 5/9 - 1
10-87933168-GC-AG c.409_410delinsAG p.A137R Missense 5/9 - 1
10-87933168-GC-AT c.409_410delinsAT p.A137I Missense 5/9 - 1
10-87933168-GCA-TAT c.409_411delinsTAT p.A137Y Missense 5/9 - 1
10-87933168-GCA-TGG c.409_411delinsTGG p.A137W Missense 5/9 - 1
10-87933168-GCA-TGT c.409_411delinsTGT p.A137C Missense 5/9 - 1
10-87933168-GCA-TTT c.409_411delinsTTT p.A137F Missense 5/9 - 2
10-87933168-GC-CA c.409_410delinsCA p.A137Q Missense 5/9 - 1
10-87933168-GC-CT c.409_410delinsCT p.A137L Missense 5/9 - 1
10-87933168-G-T c.409G>T p.A137S Missense 5/9 - 3
10-87933168-TGCA-T c.409_411del p.A137del InFrameDeletion 5/9 - 1
10-87933169-C-A c.410C>A p.A137E Missense 5/9 - 3
10-87933169-CA-AC c.410_411delinsAC p.A137D Missense 5/9 - 2
10-87933169-C-G c.410C>G p.A137G Missense 5/9 - 1
10-87933169-C-T c.410C>T p.A137V Missense 5/9 - 7
10-87933169-GC-G c.410del p.A137Dfs*10 Frameshift 5/9 - 1
10-87933170-A-C c.411A>C p.A137= Synonymous 5/9 - 2
10-87933170-A-G c.411A>G p.A137= Synonymous 5/9 - 3
10-87933170-A-T c.411A>T p.A137= Synonymous 5/9 - 2
10-87933169-CATATTTATT-C c.412_420del p.Y138_L140del InFrameDeletion 5/9 - 1
10-87933171-T-A c.412T>A p.Y138N Missense 5/9 - 2
10-87933171-TA-AC c.412_413delinsAC p.Y138T Missense 5/9 - 1
10-87933171-TA-AT c.412_413delinsAT p.Y138I Missense 5/9 - 1
10-87933171-TA-CC c.412_413delinsCC p.Y138P Missense 5/9 - 1
10-87933171-TA-CG c.412_413delinsCG p.Y138R Missense 5/9 - 1
10-87933171-TA-CT c.412_413delinsCT p.Y138L Missense 5/9 - 41
10-87933171-TA-GC c.412_413delinsGC p.Y138A Missense 5/9 - 1
10-87933171-TA-GG c.412_413delinsGG p.Y138G Missense 5/9 - 1
10-87933171-TA-GT c.412_413delinsGT p.Y138V Missense 5/9 - 1
10-87933171-TAT-AAG c.412_414delinsAAG p.Y138K Missense 5/9 - 1
10-87933171-TAT-ATG c.412_414delinsATG p.Y138M Missense 5/9 - 1
10-87933171-TAT-CAA c.412_414delinsCAA p.Y138Q Missense 5/9 - 1
10-87933171-TAT-GAG c.412_414delinsGAG p.Y138E Missense 5/9 - 1
10-87933171-T-C c.412T>C p.Y138H Missense 5/9 - 4
10-87933171-T-G c.412T>G p.Y138D Missense 5/9 - 5
10-87933172-A-C c.413A>C p.Y138S Missense 5/9 - 3
10-87933172-A-G c.413A>G p.Y138C Missense 5/9 - 26
10-87933172-A-T c.413A>T p.Y138F Missense 5/9 - 3
10-87933172-AT-GG c.413_414delinsGG p.Y138W Missense 5/9 - 1
10-87933173-ATTT-A c.414_416del p.Y138_L139delins* MultiAAMissense 5/9 - 1
10-87933173-T-A c.414T>A p.Y138* Nonsense 5/9 - 6
10-87933173-T-G c.414T>G p.Y138* Nonsense 5/9 - 8
10-87933174-T-A c.415T>A p.L139I Missense 5/9 - 2
10-87933174-T-G c.415T>G p.L139V Missense 5/9 - 4
10-87933174-TT-AA c.415_416inv p.L139K Missense 5/9 - 1
10-87933174-TTA-AAC c.415_417delinsAAC p.L139N Missense 5/9 - 1
10-87933174-TTA-ATG c.415_417delinsATG p.L139M Missense 5/9 - 1
10-87933174-TT-AC c.415_416delinsAC p.L139T Missense 5/9 - 1
10-87933174-TTA-CAT c.415_417delinsCAT p.L139H Missense 5/9 - 1
10-87933174-TT-AG c.415_416delinsAG p.L139R Missense 5/9 - 1
10-87933174-TTA-GAC c.415_417delinsGAC p.L139D Missense 5/9 - 1
10-87933174-TT-CA c.415_416delinsCA p.L139Q Missense 5/9 - 1
10-87933174-TT-CC c.415_416delinsCC p.L139P Missense 5/9 - 1
10-87933174-TT-GA c.415_416delinsGA p.L139E Missense 5/9 - 1
10-87933174-TT-GC c.415_416delinsGC p.L139A Missense 5/9 - 1
10-87933174-TT-GG c.415_416delinsGG p.L139G Missense 5/9 - 1
10-87933172-AT-A c.416del p.L139Yfs*8 Frameshift 5/9 - 3
10-87933175-T-A c.416T>A p.L139* Nonsense 5/9 - 24
10-87933175-TA-AT c.416_417delinsAT p.L139Y Missense 5/9 - 1
10-87933175-TA-GG c.416_417delinsGG p.L139W Missense 5/9 - 1
10-87933175-TA-GT c.416_417delinsGT p.L139C Missense 5/9 - 1
10-87933175-T-C c.416T>C p.L139S Missense 5/9 - 2
10-87933175-T-G c.416T>G p.L139* Nonsense 5/9 - 24
10-87933175-TTATTACATCGGGGCAAATTTTTAAA-T c.416_440del p.L139Wfs*6 Frameshift 5/9 - 1
10-87933176-A-C c.417A>C p.L139F Missense 5/9 - 7
10-87933176-A-T c.417A>T p.L139F Missense 5/9 - 8
10-87933176-TA-T c.417del p.L139Ffs*8 Frameshift 5/9 - 1
10-87933173-TTTA-T c.418_420del p.L140del InFrameDeletion 5/9 - 1
10-87933177-T-A c.418T>A p.L140I Missense 5/9 - 1
10-87933177-T-G c.418T>G p.L140V Missense 5/9 - 1
10-87933177-TT-AA c.418_419inv p.L140K Missense 5/9 - 1
10-87933177-TTA-AAC c.418_420delinsAAC p.L140N Missense 5/9 - 1
10-87933177-TTA-ATG c.418_420delinsATG p.L140M Missense 5/9 - 1
10-87933177-TT-AC c.418_419delinsAC p.L140T Missense 5/9 - 1
10-87933177-TTA-CAT c.418_420delinsCAT p.L140H Missense 5/9 - 1
10-87933177-TT-AG c.418_419delinsAG p.L140R Missense 5/9 - 1
10-87933177-TTA-GAC c.418_420delinsGAC p.L140D Missense 5/9 - 1
10-87933177-TT-CA c.418_419delinsCA p.L140Q Missense 5/9 - 1
10-87933177-TT-CC c.418_419delinsCC p.L140P Missense 5/9 - 1
10-87933177-TT-GA c.418_419delinsGA p.L140E Missense 5/9 - 1
10-87933177-TT-GC c.418_419delinsGC p.L140A Missense 5/9 - 1
10-87933177-TT-GG c.418_419delinsGG p.L140G Missense 5/9 - 1
10-87933178-T-A c.419T>A p.L140* Nonsense 5/9 - 12
10-87933178-TA-AT c.419_420delinsAT p.L140Y Missense 5/9 - 1
10-87933178-TA-GG c.419_420delinsGG p.L140W Missense 5/9 - 1
10-87933178-TA-GT c.419_420delinsGT p.L140C Missense 5/9 - 1
10-87933178-T-C c.419T>C p.L140S Missense 5/9 - 4
10-87933178-T-G c.419T>G p.L140* Nonsense 5/9 - 15
10-87933178-T-TA c.420dup p.H141Tfs*39 Frameshift 5/9 - 7
10-87933179-A-C c.420A>C p.L140F Missense 5/9 - 10
10-87933179-A-G c.420A>G p.L140= Synonymous 5/9 - 3
10-87933179-A-T c.420A>T p.L140F Missense 5/9 - 5
10-87933178-TACATCGGGGCAAATTTTTAA-T c.421_440del p.H141Gfs*32 Frameshift 5/9 - 1
10-87933180-C-A c.421C>A p.H141N Missense 5/9 - 4
10-87933180-CA-AC c.421_422delinsAC p.H141T Missense 5/9 - 2
10-87933180-CA-AG c.421_422delinsAG p.H141S Missense 5/9 - 1
10-87933180-CA-AT c.421_422delinsAT p.H141I Missense 5/9 - 1
10-87933180-CA-GC c.421_422delinsGC p.H141A Missense 5/9 - 1
10-87933180-CA-GG c.421_422delinsGG p.H141G Missense 5/9 - 1
10-87933180-CA-GT c.421_422delinsGT p.H141V Missense 5/9 - 1
10-87933180-CAT-AAG c.421_423delinsAAG p.H141K Missense 5/9 - 1
10-87933180-CAT-ATG c.421_423inv p.H141M Missense 5/9 - 1
10-87933180-CA-TG c.421_422inv p.H141C Missense 5/9 - 1
10-87933180-CAT-GAG c.421_423delinsGAG p.H141E Missense 5/9 - 1
10-87933180-CA-TT c.421_422delinsTT p.H141F Missense 5/9 - 1
10-87933180-CAT-TGG c.421_423delinsTGG p.H141W Missense 5/9 - 1
10-87933180-C-G c.421C>G p.H141D Missense 5/9 - 3
10-87933180-C-T c.421C>T p.H141Y Missense 5/9 - 6
10-87933181-A-C c.422A>C p.H141P Missense 5/9 - 4
10-87933181-A-G c.422A>G p.H141R Missense 5/9 - 8
10-87933181-A-T c.422A>T p.H141L Missense 5/9 - 1
10-87933179-ACATCGGGG-A c.423_430del p.H141Qfs*36 Frameshift 5/9 - 1
10-87933182-T-A c.423T>A p.H141Q Missense 5/9 - 2
10-87933182-T-G c.423T>G p.H141Q Missense 5/9 - 1
10-87933183-C-A c.424C>A p.R142= Synonymous 5/9 - 2
10-87933183-C-G c.424C>G p.R142G Missense 5/9 - 4
10-87933183-CG-AA c.424_425delinsAA p.R142K Missense 5/9 - 1
10-87933183-CG-AC c.424_425delinsAC p.R142T Missense 5/9 - 1
10-87933183-CG-AT c.424_425delinsAT p.R142M Missense 5/9 - 1
10-87933183-CG-GA c.424_425delinsGA p.R142E Missense 5/9 - 1
10-87933183-CGG-AAC c.424_426delinsAAC p.R142N Missense 5/9 - 1
10-87933183-CGG-AGC c.424_426delinsAGC p.R142S Missense 5/9 - 2
10-87933183-CGG-ATC c.424_426delinsATC p.R142I Missense 5/9 - 1
10-87933183-CG-GC c.424_425delinsGC p.R142A Missense 5/9 - 1
10-87933183-CGG-GAC c.424_426delinsGAC p.R142D Missense 5/9 - 1
10-87933183-CG-GT c.424_425delinsGT p.R142V Missense 5/9 - 1
10-87933183-CGG-TAT c.424_426delinsTAT p.R142Y Missense 5/9 - 1
10-87933183-CGG-TGT c.424_426delinsTGT p.R142C Missense 5/9 - 2
10-87933183-CGG-TTT c.424_426delinsTTT p.R142F Missense 5/9 - 1
10-87933183-C-T c.424C>T p.R142W Missense 5/9 - 40
10-87933183-TCG-T c.424_425del p.R142Gfs*37 Frameshift 5/9 - 1
10-87933183-TC-T c.424del p.R142Gfs*5 Frameshift 5/9 - 2
10-87933184-GGGGCAAATTTTT-AAGGTAAGTTTTA c.425_437delinsAAGGTAAGTTTTA p.R142_L146delinsQGKF* MultiAAMissense 5/9 - 1
10-87933185-G-A c.426G>A p.R142= Synonymous 5/9 - 2
10-87933185-G-C c.426G>C p.R142= Synonymous 5/9 - 2
10-87933185-G-T c.426G>T p.R142= Synonymous 5/9 - 2
10-87933184-CGGGGCAAATTTTT-C c.425_437del p.R142Qfs*7 Frameshift 5/9 - 1
10-87933184-G-A c.425G>A p.R142Q Missense 5/9 - 21
10-87933184-G-C c.425G>C p.R142P Missense 5/9 - 7
10-87933184-GG-AT c.425_426delinsAT p.R142H Missense 5/9 - 2
10-87933184-G-T c.425G>T p.R142L Missense 5/9 - 3
10-87933186-G-A c.427G>A p.G143S Missense 5/9 - 4
10-87933186-G-C c.427G>C p.G143R Missense 5/9 - 3
10-87933186-GG-AA c.427_428delinsAA p.G143N Missense 5/9 - 1
10-87933186-GG-AC c.427_428delinsAC p.G143T Missense 5/9 - 1
10-87933186-GG-AT c.427_428delinsAT p.G143I Missense 5/9 - 1
10-87933186-GG-CA c.427_428delinsCA p.G143H Missense 5/9 - 2
10-87933186-GGC-AAG c.427_429delinsAAG p.G143K Missense 5/9 - 1
10-87933186-GGC-ATG c.427_429delinsATG p.G143M Missense 5/9 - 1
10-87933186-GG-CC c.427_428inv p.G143P Missense 5/9 - 1
10-87933186-GGC-CAA c.427_429delinsCAA p.G143Q Missense 5/9 - 1
10-87933186-GG-CT c.427_428delinsCT p.G143L Missense 5/9 - 1
10-87933186-GGC-TGG c.427_429delinsTGG p.G143W Missense 5/9 - 1
10-87933186-GG-TA c.427_428delinsTA p.G143Y Missense 5/9 - 1
10-87933186-GG-TT c.427_428delinsTT p.G143F Missense 5/9 - 1
10-87933186-G-T c.427G>T p.G143C Missense 5/9 - 1
10-87933183-CG-C c.428del p.G143Afs*4 Frameshift 5/9 - 5
10-87933187-G-A c.428G>A p.G143D Missense 5/9 - 11
10-87933187-G-C c.428G>C p.G143A Missense 5/9 - 1
10-87933187-GC-AG c.428_429delinsAG p.G143E Missense 5/9 - 1
10-87933187-G-T c.428G>T p.G143V Missense 5/9 - 2
10-87933188-C-A c.429C>A p.G143= Synonymous 5/9 - 1
10-87933188-C-CT c.429_430insT p.K144* Nonsense 5/9 - 2
10-87933189-AAA-CAT c.430_432delinsCAT p.K144H Missense 5/9 - 1
10-87933189-AAA-GAC c.430_432delinsGAC p.K144D Missense 5/9 - 1
10-87933189-AAA-TAT c.430_432delinsTAT p.K144Y Missense 5/9 - 2
10-87933189-AAA-TGG c.430_432delinsTGG p.K144W Missense 5/9 - 1
10-87933189-AAA-TGT c.430_432delinsTGT p.K144C Missense 5/9 - 1
10-87933189-AAA-TTT c.430_432inv p.K144F Missense 5/9 - 1
10-87933189-AA-CC c.430_431delinsCC p.K144P Missense 5/9 - 1
10-87933189-AA-CT c.430_431delinsCT p.K144L Missense 5/9 - 1
10-87933189-AA-GC c.430_431delinsGC p.K144A Missense 5/9 - 1
10-87933189-AA-GG c.430_431delinsGG p.K144G Missense 5/9 - 1
10-87933189-AA-GT c.430_431delinsGT p.K144V Missense 5/9 - 1
10-87933189-A-C c.430A>C p.K144Q Missense 5/9 - 4
10-87933189-A-G c.430A>G p.K144E Missense 5/9 - 1
10-87933189-A-T c.430A>T p.K144* Nonsense 5/9 - 7
10-87933185-GGGCAAATTTTTAAA-G c.431_444del p.K144Tfs*31 Frameshift 5/9 - 1
10-87933190-AA-GC c.431_432delinsGC p.K144S Missense 5/9 - 1
10-87933190-AA-TG c.431_432delinsTG p.K144M Missense 5/9 - 1
10-87933190-A-C c.431A>C p.K144T Missense 5/9 - 6
10-87933190-A-G c.431A>G p.K144R Missense 5/9 - 2
10-87933190-A-T c.431A>T p.K144I Missense 5/9 - 3
10-87933188-CAAATTTTTA-C c.432_440del p.F145_K147del InFrameDeletion 5/9 - 2
10-87933191-A-C c.432A>C p.K144N Missense 5/9 - 3
10-87933191-A-T c.432A>T p.K144N Missense 5/9 - 2
10-87933190-AATTTTT-A c.433_438del p.F145_L146del InFrameDeletion 5/9 - 1
10-87933192-T-A c.433T>A p.F145I Missense 5/9 - 14
10-87933192-T-C c.433T>C p.F145L Missense 5/9 - 1
10-87933192-T-G c.433T>G p.F145V Missense 5/9 - 2
10-87933192-TT-AA c.433_434inv p.F145N Missense 5/9 - 1
10-87933192-TT-AC c.433_434delinsAC p.F145T Missense 5/9 - 1
10-87933192-TT-CA c.433_434delinsCA p.F145H Missense 5/9 - 1
10-87933192-TT-CC c.433_434delinsCC p.F145P Missense 5/9 - 1
10-87933192-TT-CG c.433_434delinsCG p.F145R Missense 5/9 - 1
10-87933192-TT-GA c.433_434delinsGA p.F145D Missense 5/9 - 1
10-87933192-TT-GC c.433_434delinsGC p.F145A Missense 5/9 - 1
10-87933192-TT-GG c.433_434delinsGG p.F145G Missense 5/9 - 1
10-87933192-TTT-AAG c.433_435delinsAAG p.F145K Missense 5/9 - 1
10-87933192-TTT-ATG c.433_435delinsATG p.F145M Missense 5/9 - 1
10-87933192-TTT-CAA c.433_435delinsCAA p.F145Q Missense 5/9 - 1
10-87933192-TTT-GAG c.433_435delinsGAG p.F145E Missense 5/9 - 1
10-87933194-T-A c.435T>A p.F145L Missense 5/9 - 1
10-87933194-T-G c.435T>G p.F145L Missense 5/9 - 1
10-87933193-T-A c.434T>A p.F145Y Missense 5/9 - 1
10-87933193-T-C c.434T>C p.F145S Missense 5/9 - 1
10-87933193-T-G c.434T>G p.F145C Missense 5/9 - 5
10-87933193-TT-GG c.434_435delinsGG p.F145W Missense 5/9 - 1
10-87933194-TTTTAAA-T c.435_440del p.F145_K147delinsL MultiAAMissense 5/9 - 1
10-87933195-T-G c.436T>G p.L146V Missense 5/9 - 4
10-87933191-A-AT c.437dup p.L146Ffs*34 Frameshift 5/9 - 5
10-87933191-AT-A c.437del p.L146* Frameshift 5/9 - 4
10-87933196-T-A c.437T>A p.L146* Nonsense 5/9 - 20
10-87933196-T-G c.437T>G p.L146* Nonsense 5/9 - 16
10-87933198-AA-CC c.439_440delinsCC p.K147P Missense 5/9 - 1
10-87933198-AA-CT c.439_440delinsCT p.K147L Missense 5/9 - 1
10-87933198-AA-GC c.439_440delinsGC p.K147A Missense 5/9 - 2
10-87933198-AAG-CAT c.439_441delinsCAT p.K147H Missense 5/9 - 1
10-87933198-AA-GG c.439_440delinsGG p.K147G Missense 5/9 - 1
10-87933198-AAG-GAC c.439_441delinsGAC p.K147D Missense 5/9 - 1
10-87933198-AA-GT c.439_440delinsGT p.K147V Missense 5/9 - 1
10-87933198-AAG-TAT c.439_441delinsTAT p.K147Y Missense 5/9 - 1
10-87933198-AAG-TGT c.439_441delinsTGT p.K147C Missense 5/9 - 1
10-87933198-AAG-TTT c.439_441delinsTTT p.K147F Missense 5/9 - 1
10-87933198-AA-TG c.439_440delinsTG p.K147W Missense 5/9 - 1
10-87933198-A-C c.439A>C p.K147Q Missense 5/9 - 3
10-87933198-A-G c.439A>G p.K147E Missense 5/9 - 2
10-87933198-A-T c.439A>T p.K147* Nonsense 5/9 - 5
10-87933196-TAAAGGCAC-T c.440_447del p.K147Rfs*30 Frameshift 5/9 - 1
10-87933196-TA-T c.440del p.K147Rfs*6 Frameshift 5/9 - 1
10-87933196-T-TA c.440dup p.A148Gfs*32 Frameshift 5/9 - 1
10-87933199-A-C c.440A>C p.K147T Missense 5/9 - 3
10-87933199-A-G c.440A>G p.K147R Missense 5/9 - 6
10-87933199-AG-GC c.440_441delinsGC p.K147S Missense 5/9 - 1
10-87933199-AG-TC c.440_441delinsTC p.K147I Missense 5/9 - 1
10-87933199-A-T c.440A>T p.K147M Missense 5/9 - 3
10-87933200-G-C c.441G>C p.K147N Missense 5/9 - 3
10-87933200-G-T c.441G>T p.K147N Missense 5/9 - 3
10-87933201-G-A c.442G>A p.A148T Missense 5/9 - 9
10-87933201-G-C c.442G>C p.A148P Missense 5/9 - 1
10-87933201-GC-AA c.442_443delinsAA p.A148K Missense 5/9 - 1
10-87933201-GCA-AAC c.442_444delinsAAC p.A148N Missense 5/9 - 1
10-87933201-GCA-ATG c.442_444delinsATG p.A148M Missense 5/9 - 1
10-87933201-GCA-CAT c.442_444delinsCAT p.A148H Missense 5/9 - 1
10-87933201-GC-AG c.442_443delinsAG p.A148R Missense 5/9 - 1
10-87933201-GC-AT c.442_443delinsAT p.A148I Missense 5/9 - 1
10-87933201-GCA-TAT c.442_444delinsTAT p.A148Y Missense 5/9 - 1
10-87933201-GCA-TGG c.442_444delinsTGG p.A148W Missense 5/9 - 1
10-87933201-GCA-TGT c.442_444delinsTGT p.A148C Missense 5/9 - 1
10-87933201-GCA-TTT c.442_444delinsTTT p.A148F Missense 5/9 - 1
10-87933201-GC-CA c.442_443delinsCA p.A148Q Missense 5/9 - 1
10-87933201-GC-CT c.442_443delinsCT p.A148L Missense 5/9 - 1
10-87933201-G-T c.442G>T p.A148S Missense 5/9 - 5
10-87933202-C-A c.443C>A p.A148E Missense 5/9 - 5
10-87933202-CA-AC c.443_444delinsAC p.A148D Missense 5/9 - 1
10-87933202-C-G c.443C>G p.A148G Missense 5/9 - 1
10-87933202-C-T c.443C>T p.A148V Missense 5/9 - 4
10-87933202-C-CA c.444dup p.Q149Tfs*31 Frameshift 5/9 - 1
10-87933203-A-G c.444A>G p.A148= Synonymous 5/9 - 1
10-87933204-C-A c.445C>A p.Q149K Missense 5/9 - 3
10-87933204-CAA-AAC c.445_447delinsAAC p.Q149N Missense 5/9 - 1
10-87933204-CAA-ATG c.445_447delinsATG p.Q149M Missense 5/9 - 1
10-87933204-CA-AC c.445_446delinsAC p.Q149T Missense 5/9 - 1
10-87933204-CAA-GAC c.445_447delinsGAC p.Q149D Missense 5/9 - 1
10-87933204-CA-AT c.445_446delinsAT p.Q149I Missense 5/9 - 1
10-87933204-CAA-TAT c.445_447delinsTAT p.Q149Y Missense 5/9 - 1
10-87933204-CAA-TGG c.445_447delinsTGG p.Q149W Missense 5/9 - 1
10-87933204-CAA-TGT c.445_447delinsTGT p.Q149C Missense 5/9 - 1
10-87933204-CAA-TTT c.445_447delinsTTT p.Q149F Missense 5/9 - 1
10-87933204-CA-GC c.445_446delinsGC p.Q149A Missense 5/9 - 1
10-87933204-CA-GG c.445_446delinsGG p.Q149G Missense 5/9 - 1
10-87933204-CA-GT c.445_446delinsGT p.Q149V Missense 5/9 - 1
10-87933204-CA-TC c.445_446delinsTC p.Q149S Missense 5/9 - 1
10-87933204-C-CT c.445_446insT p.Q149Lfs*31 Frameshift 5/9 - 1
10-87933204-C-G c.445C>G p.Q149E Missense 5/9 - 1
10-87933204-C-T c.445C>T p.Q149* Nonsense 5/9 - 43
10-87933205-A-C c.446A>C p.Q149P Missense 5/9 - 1
10-87933205-A-G c.446A>G p.Q149R Missense 5/9 - 3
10-87933205-A-T c.446A>T p.Q149L Missense 5/9 - 1
10-87933204-CA-C c.447del p.E150Rfs*3 Frameshift 5/9 - 1
10-87933206-A-C c.447A>C p.Q149H Missense 5/9 - 1
10-87933206-A-T c.447A>T p.Q149H Missense 5/9 - 1
10-87933206-A-AG c.448dup p.E150Gfs*30 Frameshift 5/9 - 1
10-87933207-G-A c.448G>A p.E150K Missense 5/9 - 2
10-87933207-GA-AC c.448_449delinsAC p.E150T Missense 5/9 - 1
10-87933207-GA-AG c.448_449delinsAG p.E150R Missense 5/9 - 1
10-87933207-GA-AT c.448_449delinsAT p.E150M Missense 5/9 - 1
10-87933207-GA-CC c.448_449delinsCC p.E150P Missense 5/9 - 1
10-87933207-GA-CT c.448_449delinsCT p.E150L Missense 5/9 - 1
10-87933207-GAG-AAC c.448_450delinsAAC p.E150N Missense 5/9 - 1
10-87933207-GAG-ATC c.448_450delinsATC p.E150I Missense 5/9 - 1
10-87933207-GAG-CAT c.448_450delinsCAT p.E150H Missense 5/9 - 1
10-87933207-GAG-TAT c.448_450delinsTAT p.E150Y Missense 5/9 - 1
10-87933207-GAG-TGT c.448_450delinsTGT p.E150C Missense 5/9 - 1
10-87933207-GAG-TTT c.448_450delinsTTT p.E150F Missense 5/9 - 1
10-87933207-GA-TC c.448_449inv p.E150S Missense 5/9 - 1
10-87933207-GA-TG c.448_449delinsTG p.E150W Missense 5/9 - 1
10-87933207-G-C c.448G>C p.E150Q Missense 5/9 - 3
10-87933207-G-T c.448G>T p.E150* Nonsense 5/9 - 16
10-87933208-A-C c.449A>C p.E150A Missense 5/9 - 3
10-87933208-A-G c.449A>G p.E150G Missense 5/9 - 11
10-87933208-A-T c.449A>T p.E150V Missense 5/9 - 1
10-87933209-G-C c.450G>C p.E150D Missense 5/9 - 2
10-87933209-G-T c.450G>T p.E150D Missense 5/9 - 2
10-87933207-G-GAGGGCCCT c.451_452insGCCCTAGG p.A151Gfs*5 Frameshift 5/9 - 1
10-87933210-G-A c.451G>A p.A151T Missense 5/9 - 7
10-87933210-G-C c.451G>C p.A151P Missense 5/9 - 4
10-87933210-GC-AA c.451_452delinsAA p.A151N Missense 5/9 - 1
10-87933210-GC-AT c.451_452delinsAT p.A151I Missense 5/9 - 1
10-87933210-GC-CA c.451_452delinsCA p.A151H Missense 5/9 - 1
10-87933210-GCC-AAG c.451_453delinsAAG p.A151K Missense 5/9 - 1
10-87933210-GCC-ATG c.451_453delinsATG p.A151M Missense 5/9 - 1
10-87933210-GCC-CAA c.451_453delinsCAA p.A151Q Missense 5/9 - 1
10-87933210-GC-CG c.451_452delinsCG p.A151R Missense 5/9 - 1
10-87933210-GC-CT c.451_452delinsCT p.A151L Missense 5/9 - 1
10-87933210-GCC-TGG c.451_453delinsTGG p.A151W Missense 5/9 - 1
10-87933210-GC-TA c.451_452delinsTA p.A151Y Missense 5/9 - 1
10-87933210-GC-TG c.451_452delinsTG p.A151C Missense 5/9 - 1
10-87933210-GC-TT c.451_452delinsTT p.A151F Missense 5/9 - 1
10-87933210-G-T c.451G>T p.A151S Missense 5/9 - 1
10-87933208-AGGCCCTAGATTTCTATGG-A c.452_469del p.A151_G156del InFrameDeletion 5/9 - 1
10-87933211-C-A c.452C>A p.A151D Missense 5/9 - 3
10-87933211-CC-AG c.452_453delinsAG p.A151E Missense 5/9 - 1
10-87933211-C-G c.452C>G p.A151G Missense 5/9 - 2
10-87933211-C-T c.452C>T p.A151V Missense 5/9 - 4
10-87933212-C-A c.453C>A p.A151= Synonymous 5/9 - 1
10-87933212-C-G c.453C>G p.A151= Synonymous 5/9 - 1
10-87933212-C-T c.453C>T p.A151= Synonymous 5/9 - 2
10-87933210-GC-G c.454del p.L152* Frameshift 5/9 - 4
10-87933213-C-A c.454C>A p.L152I Missense 5/9 - 4
10-87933213-C-G c.454C>G p.L152V Missense 5/9 - 3
10-87933213-CT-AA c.454_455delinsAA p.L152K Missense 5/9 - 1
10-87933213-CTA-AAC c.454_456delinsAAC p.L152N Missense 5/9 - 1
10-87933213-CTA-ATG c.454_456delinsATG p.L152M Missense 5/9 - 1
10-87933213-CT-AC c.454_455delinsAC p.L152T Missense 5/9 - 2
10-87933213-CTA-GAC c.454_456delinsGAC p.L152D Missense 5/9 - 1
10-87933213-CTA-TAT c.454_456delinsTAT p.L152Y Missense 5/9 - 1
10-87933213-CTA-TGG c.454_456delinsTGG p.L152W Missense 5/9 - 1
10-87933213-CTA-TGT c.454_456delinsTGT p.L152C Missense 5/9 - 1
10-87933213-CTA-TTT c.454_456delinsTTT p.L152F Missense 5/9 - 2
10-87933213-CT-GA c.454_455delinsGA p.L152E Missense 5/9 - 1
10-87933213-CT-GC c.454_455delinsGC p.L152A Missense 5/9 - 1
10-87933213-CT-GG c.454_455delinsGG p.L152G Missense 5/9 - 1
10-87933213-CT-TC c.454_455delinsTC p.L152S Missense 5/9 - 1
10-87933214-T-A c.455T>A p.L152Q Missense 5/9 - 2
10-87933214-TA-AT c.455_456delinsAT p.L152H Missense 5/9 - 1
10-87933214-T-C c.455T>C p.L152P Missense 5/9 - 13
10-87933214-T-G c.455T>G p.L152R Missense 5/9 - 7
10-87933213-CTAGAT-C c.456_460del p.D153Lfs*25 Frameshift 5/9 - 1
10-87933214-T-TA c.456dup p.D153Rfs*27 Frameshift 5/9 - 6
10-87933215-A-AT c.456_457insT p.D153* Nonsense 5/9 - 2
10-87933215-TAGATTTCTATGGG-T c.456_468del p.D153Kfs*2 Frameshift 5/9 - 1
10-87933216-AGAT-A c.457_459del p.D153del InFrameDeletion 5/9 - 1
10-87933216-G-A c.457G>A p.D153N Missense 5/9 - 9
10-87933216-GA-AC c.457_458delinsAC p.D153T Missense 5/9 - 1
10-87933216-GA-AG c.457_458delinsAG p.D153S Missense 5/9 - 1
10-87933216-GA-AT c.457_458delinsAT p.D153I Missense 5/9 - 1
10-87933216-GA-CC c.457_458delinsCC p.D153P Missense 5/9 - 1
10-87933216-GA-CG c.457_458delinsCG p.D153R Missense 5/9 - 1
10-87933216-GA-CT c.457_458delinsCT p.D153L Missense 5/9 - 1
10-87933216-GAT-AAG c.457_459delinsAAG p.D153K Missense 5/9 - 1
10-87933216-GAT-ATG c.457_459delinsATG p.D153M Missense 5/9 - 1
10-87933216-GAT-CAA c.457_459delinsCAA p.D153Q Missense 5/9 - 1
10-87933216-GA-TG c.457_458delinsTG p.D153C Missense 5/9 - 1
10-87933216-GA-TT c.457_458delinsTT p.D153F Missense 5/9 - 1
10-87933216-GAT-TGG c.457_459delinsTGG p.D153W Missense 5/9 - 1
10-87933216-G-C c.457G>C p.D153H Missense 5/9 - 6
10-87933216-G-T c.457G>T p.D153Y Missense 5/9 - 17
10-87933217-A-C c.458A>C p.D153A Missense 5/9 - 2
10-87933217-A-G c.458A>G p.D153G Missense 5/9 - 2
10-87933217-A-T c.458A>T p.D153V Missense 5/9 - 1
10-87933218-T-A c.459T>A p.D153E Missense 5/9 - 3
10-87933218-T-C c.459T>C p.D153= Synonymous 5/9 - 1
10-87933218-T-G c.459T>G p.D153E Missense 5/9 - 2
10-87933218-T-TA c.459_460insA p.F154Ifs*26 Frameshift 5/9 - 1
10-87933219-T-A c.460T>A p.F154I Missense 5/9 - 3
10-87933219-T-C c.460T>C p.F154L Missense 5/9 - 15
10-87933219-T-G c.460T>G p.F154V Missense 5/9 - 3
10-87933219-TT-AA c.460_461inv p.F154N Missense 5/9 - 1
10-87933219-TT-AC c.460_461delinsAC p.F154T Missense 5/9 - 1
10-87933219-TT-CA c.460_461delinsCA p.F154H Missense 5/9 - 1
10-87933219-TTC-AAG c.460_462delinsAAG p.F154K Missense 5/9 - 1
10-87933219-TTC-ATG c.460_462delinsATG p.F154M Missense 5/9 - 1
10-87933219-TT-CC c.460_461delinsCC p.F154P Missense 5/9 - 1
10-87933219-TTC-CAA c.460_462delinsCAA p.F154Q Missense 5/9 - 1
10-87933219-TT-CG c.460_461delinsCG p.F154R Missense 5/9 - 1
10-87933219-TTC-GAG c.460_462delinsGAG p.F154E Missense 5/9 - 1
10-87933219-TT-GA c.460_461delinsGA p.F154D Missense 5/9 - 1
10-87933219-TT-GC c.460_461delinsGC p.F154A Missense 5/9 - 1
10-87933219-TT-GG c.460_461delinsGG p.F154G Missense 5/9 - 1
10-87933221-C-A c.462C>A p.F154L Missense 5/9 - 24
10-87933221-C-G c.462C>G p.F154L Missense 5/9 - 15
10-87933217-AT-A c.461del p.F154Sfs*5 Frameshift 5/9 - 4
10-87933220-T-A c.461T>A p.F154Y Missense 5/9 - 1
10-87933220-T-C c.461T>C p.F154S Missense 5/9 - 5
10-87933220-TC-GG c.461_462delinsGG p.F154W Missense 5/9 - 1
10-87933220-T-G c.461T>G p.F154C Missense 5/9 - 9
10-87933218-TTTCTATGGGGAAGTAAGGACCAGAGACAAAAAGGTAAG-T c.462_492+7del - SpliceDonorDeletion 5/9 5/8 2
10-87933221-C-T c.462C>T p.F154= Synonymous 5/9 - 1
10-87933222-T-A c.463T>A p.Y155N Missense 5/9 - 15
10-87933222-TA-AC c.463_464delinsAC p.Y155T Missense 5/9 - 1
10-87933222-TA-AT c.463_464delinsAT p.Y155I Missense 5/9 - 1
10-87933222-TA-CC c.463_464delinsCC p.Y155P Missense 5/9 - 1
10-87933222-TA-CG c.463_464delinsCG p.Y155R Missense 5/9 - 1
10-87933222-TA-CT c.463_464delinsCT p.Y155L Missense 5/9 - 1
10-87933222-TA-GC c.463_464delinsGC p.Y155A Missense 5/9 - 1
10-87933222-TA-GG c.463_464delinsGG p.Y155G Missense 5/9 - 1
10-87933222-TA-GT c.463_464delinsGT p.Y155V Missense 5/9 - 1
10-87933222-TAT-AAG c.463_465delinsAAG p.Y155K Missense 5/9 - 1
10-87933222-TAT-ATG c.463_465delinsATG p.Y155M Missense 5/9 - 1
10-87933222-TAT-CAA c.463_465delinsCAA p.Y155Q Missense 5/9 - 1
10-87933222-TAT-GAG c.463_465delinsGAG p.Y155E Missense 5/9 - 1
10-87933222-T-C c.463T>C p.Y155H Missense 5/9 - 19
10-87933222-T-G c.463T>G p.Y155D Missense 5/9 - 2
10-87933223-A-C c.464A>C p.Y155S Missense 5/9 - 12
10-87933223-A-G c.464A>G p.Y155C Missense 5/9 - 67
10-87933223-A-T c.464A>T p.Y155F Missense 5/9 - 3
10-87933223-AT-GG c.464_465delinsGG p.Y155W Missense 5/9 - 1
10-87933224-T-A c.465T>A p.Y155* Nonsense 5/9 - 2
10-87933224-T-G c.465T>G p.Y155* Nonsense 5/9 - 1
10-87933225-G-A c.466G>A p.G156R Missense 5/9 - 7
10-87933225-G-C c.466G>C p.G156R Missense 5/9 - 4
10-87933225-GG-AA c.466_467delinsAA p.G156K Missense 5/9 - 1
10-87933225-GG-AC c.466_467delinsAC p.G156T Missense 5/9 - 1
10-87933225-GG-AT c.466_467delinsAT p.G156M Missense 5/9 - 1
10-87933225-GG-CA c.466_467delinsCA p.G156Q Missense 5/9 - 1
10-87933225-GG-CC c.466_467inv p.G156P Missense 5/9 - 1
10-87933225-GG-CT c.466_467delinsCT p.G156L Missense 5/9 - 1
10-87933225-GGG-AAC c.466_468delinsAAC p.G156N Missense 5/9 - 1
10-87933225-GGG-AGC c.466_468delinsAGC p.G156S Missense 5/9 - 1
10-87933225-GGG-ATC c.466_468delinsATC p.G156I Missense 5/9 - 1
10-87933225-GGG-CAT c.466_468delinsCAT p.G156H Missense 5/9 - 1
10-87933225-GGG-TAT c.466_468delinsTAT p.G156Y Missense 5/9 - 1
10-87933225-GGG-TGT c.466_468delinsTGT p.G156C Missense 5/9 - 1
10-87933225-GGG-TTT c.466_468delinsTTT p.G156F Missense 5/9 - 1
10-87933225-G-T c.466G>T p.G156W Missense 5/9 - 3
10-87933226-G-A c.467G>A p.G156E Missense 5/9 - 3
10-87933226-G-C c.467G>C p.G156A Missense 5/9 - 2
10-87933226-GG-AC c.467_468delinsAC p.G156D Missense 5/9 - 1
10-87933226-G-T c.467G>T p.G156V Missense 5/9 - 4
10-87933227-G-A c.468G>A p.G156= Synonymous 5/9 - 1
10-87933227-G-GT c.468_469insT p.E157* Nonsense 5/9 - 1
10-87933224-TG-T c.469del p.E157Kfs*2 Frameshift 5/9 - 2
10-87933224-T-TG c.469dup p.E157Gfs*23 Frameshift 5/9 - 10
10-87933228-G-A c.469G>A p.E157K Missense 5/9 - 2
10-87933228-GAA-AAC c.469_471delinsAAC p.E157N Missense 5/9 - 1
10-87933228-GAA-ATG c.469_471delinsATG p.E157M Missense 5/9 - 1
10-87933228-GA-AC c.469_470delinsAC p.E157T Missense 5/9 - 2
10-87933228-GAA-CAT c.469_471delinsCAT p.E157H Missense 5/9 - 2
10-87933228-GA-AG c.469_470delinsAG p.E157R Missense 5/9 - 1
10-87933228-GA-AT c.469_470delinsAT p.E157I Missense 5/9 - 1
10-87933228-GAA-TAT c.469_471delinsTAT p.E157Y Missense 5/9 - 1
10-87933228-GAA-TGG c.469_471delinsTGG p.E157W Missense 5/9 - 1
10-87933228-GAA-TGT c.469_471delinsTGT p.E157C Missense 5/9 - 1
10-87933228-GAA-TTT c.469_471delinsTTT p.E157F Missense 5/9 - 1
10-87933228-GA-CC c.469_470delinsCC p.E157P Missense 5/9 - 1
10-87933228-GA-CT c.469_470delinsCT p.E157L Missense 5/9 - 1
10-87933228-GA-TC c.469_470inv p.E157S Missense 5/9 - 1
10-87933228-G-C c.469G>C p.E157Q Missense 5/9 - 1
10-87933228-G-T c.469G>T p.E157* Nonsense 5/9 - 27
10-87933229-A-AG c.470_471insG p.V158Sfs*22 Frameshift 5/9 - 1
10-87933229-A-C c.470A>C p.E157A Missense 5/9 - 1
10-87933229-A-G c.470A>G p.E157G Missense 5/9 - 12
10-87933229-A-T c.470A>T p.E157V Missense 5/9 - 1
10-87933228-GA-G c.471del p.V158* Frameshift 5/9 - 1
10-87933230-A-C c.471A>C p.E157D Missense 5/9 - 2
10-87933230-A-G c.471A>G p.E157= Synonymous 5/9 - 1
10-87933230-A-T c.471A>T p.E157D Missense 5/9 - 2
10-87933231-G-A c.472G>A p.V158I Missense 5/9 - 1
10-87933231-G-C c.472G>C p.V158L Missense 5/9 - 6
10-87933231-G-T c.472G>T p.V158L Missense 5/9 - 6
10-87933231-GT-AA c.472_473delinsAA p.V158K Missense 5/9 - 1
10-87933231-GTA-AAC c.472_474delinsAAC p.V158N Missense 5/9 - 1
10-87933231-GTA-ATG c.472_474delinsATG p.V158M Missense 5/9 - 3
10-87933231-GT-AC c.472_473inv p.V158T Missense 5/9 - 1
10-87933231-GTA-CAT c.472_474delinsCAT p.V158H Missense 5/9 - 1
10-87933231-GT-AG c.472_473delinsAG p.V158R Missense 5/9 - 1
10-87933231-GTA-TAT c.472_474delinsTAT p.V158Y Missense 5/9 - 1
10-87933231-GTA-TGG c.472_474delinsTGG p.V158W Missense 5/9 - 1
10-87933231-GTA-TGT c.472_474delinsTGT p.V158C Missense 5/9 - 1
10-87933231-GTA-TTT c.472_474delinsTTT p.V158F Missense 5/9 - 11
10-87933231-GT-CA c.472_473delinsCA p.V158Q Missense 5/9 - 1
10-87933231-GT-CC c.472_473delinsCC p.V158P Missense 5/9 - 1
10-87933231-GT-TC c.472_473delinsTC p.V158S Missense 5/9 - 1
10-87933228-GAAGT-G c.473_476del p.V158Gfs*8 Frameshift 5/9 - 1
10-87933231-G-GT c.473dup p.R159Kfs*21 Frameshift 5/9 - 1
10-87933232-T-A c.473T>A p.V158E Missense 5/9 - 2
10-87933232-TA-AC c.473_474delinsAC p.V158D Missense 5/9 - 1
10-87933232-TAAGGA-CAAAGGC c.473_478delinsCAAAGGC p.V158Afs*22 Frameshift 5/9 - 1
10-87933232-T-C c.473T>C p.V158A Missense 5/9 - 2
10-87933232-T-G c.473T>G p.V158G Missense 5/9 - 2
10-87933234-A-G c.475A>G p.R159G Missense 5/9 - 13
10-87933234-AG-CA c.475_476delinsCA p.R159Q Missense 5/9 - 2
10-87933234-AG-CC c.475_476delinsCC p.R159P Missense 5/9 - 2
10-87933234-AG-CT c.475_476inv p.R159L Missense 5/9 - 1
10-87933234-AG-GA c.475_476delinsGA p.R159E Missense 5/9 - 1
10-87933234-AG-GC c.475_476delinsGC p.R159A Missense 5/9 - 1
10-87933234-AGG-CAT c.475_477delinsCAT p.R159H Missense 5/9 - 1
10-87933234-AGG-GAC c.475_477delinsGAC p.R159D Missense 5/9 - 1
10-87933234-AG-GT c.475_476delinsGT p.R159V Missense 5/9 - 1
10-87933234-AGG-TAT c.475_477delinsTAT p.R159Y Missense 5/9 - 1
10-87933234-AGG-TGT c.475_477delinsTGT p.R159C Missense 5/9 - 1
10-87933234-AGG-TTT c.475_477delinsTTT p.R159F Missense 5/9 - 1
10-87933234-AG-TA c.475_476delinsTA p.R159* Nonsense 5/9 - 2
10-87933234-A-T c.475A>T p.R159W Missense 5/9 - 2
10-87933235-G-A c.476G>A p.R159K Missense 5/9 - 23
10-87933235-G-C c.476G>C p.R159T Missense 5/9 - 4
10-87933235-G-GA c.476_477insA p.T160Dfs*20 Frameshift 5/9 - 1
10-87933235-GG-AC c.476_477delinsAC p.R159N Missense 5/9 - 1
10-87933235-GG-TC c.476_477delinsTC p.R159I Missense 5/9 - 1
10-87933235-G-T c.476G>T p.R159M Missense 5/9 - 7
10-87933236-G-A c.477G>A p.R159= Synonymous 5/9 - 1
10-87933236-G-C c.477G>C p.R159S Missense 5/9 - 24
10-87933236-G-T c.477G>T p.R159S Missense 5/9 - 37
10-87933237-A-C c.478A>C p.T160P Missense 5/9 - 5
10-87933237-AC-CA c.478_479delinsCA p.T160H Missense 5/9 - 1
10-87933237-ACC-CAA c.478_480delinsCAA p.T160Q Missense 5/9 - 1
10-87933237-ACC-GAG c.478_480delinsGAG p.T160E Missense 5/9 - 1
10-87933237-AC-CT c.478_479delinsCT p.T160L Missense 5/9 - 1
10-87933237-ACC-TGG c.478_480delinsTGG p.T160W Missense 5/9 - 1
10-87933237-AC-GA c.478_479delinsGA p.T160D Missense 5/9 - 1
10-87933237-AC-GG c.478_479delinsGG p.T160G Missense 5/9 - 1
10-87933237-AC-GT c.478_479inv p.T160V Missense 5/9 - 1
10-87933237-AC-TA c.478_479delinsTA p.T160Y Missense 5/9 - 1
10-87933237-AC-TG c.478_479delinsTG p.T160C Missense 5/9 - 1
10-87933237-AC-TT c.478_479delinsTT p.T160F Missense 5/9 - 1
10-87933237-A-G c.478A>G p.T160A Missense 5/9 - 3
10-87933237-A-T c.478A>T p.T160S Missense 5/9 - 3
10-87933238-C-A c.479C>A p.T160N Missense 5/9 - 3
10-87933238-CC-AG c.479_480delinsAG p.T160K Missense 5/9 - 1
10-87933238-CC-GG c.479_480inv p.T160R Missense 5/9 - 1
10-87933238-CC-TG c.479_480delinsTG p.T160M Missense 5/9 - 2
10-87933238-C-G c.479C>G p.T160S Missense 5/9 - 3
10-87933238-C-T c.479C>T p.T160I Missense 5/9 - 13
10-87933238-C-CCT c.480_481insTC p.R161Sfs*7 Frameshift 5/9 - 1
10-87933239-C-CT c.480_481insT p.R161* Nonsense 5/9 - 3
10-87933239-C-G c.480C>G p.T160= Synonymous 5/9 - 1
10-87933239-C-T c.480C>T p.T160= Synonymous 5/9 - 1
10-87933240-A-G c.481A>G p.R161G Missense 5/9 - 6
10-87933240-AGA-CAT c.481_483delinsCAT p.R161H Missense 5/9 - 1
10-87933240-AG-CA c.481_482delinsCA p.R161Q Missense 5/9 - 1
10-87933240-AG-GA c.481_482delinsGA p.R161E Missense 5/9 - 2
10-87933240-AG-GC c.481_482delinsGC p.R161A Missense 5/9 - 4
10-87933240-A-T c.481A>T p.R161* Nonsense 5/9 - 3
10-87933240-CA-C c.481del p.R161Efs*6 Frameshift 5/9 - 2
10-87933241-G-A c.482G>A p.R161K Missense 5/9 - 4
10-87933241-GA-AC c.482_483delinsAC p.R161N Missense 5/9 - 1
10-87933241-GA-TG c.482_483delinsTG p.R161M Missense 5/9 - 1
10-87933241-G-C c.482G>C p.R161T Missense 5/9 - 1
10-87933241-G-T c.482G>T p.R161I Missense 5/9 - 2
10-87933242-A-AT c.483_484insT p.D162* Nonsense 5/9 - 1
10-87933242-A-G c.483A>G p.R161= Synonymous 5/9 - 1
10-87933239-CAG-C c.484_485del p.D162Qfs*17 Frameshift 5/9 - 1
10-87933242-A-AG c.484dup p.D162Gfs*18 Frameshift 5/9 - 1
10-87933243-G-A c.484G>A p.D162N Missense 5/9 - 3
10-87933243-GAC-TAA c.484_486delinsTAA p.D162* Nonsense 5/9 - 1
10-87933243-G-C c.484G>C p.D162H Missense 5/9 - 11
10-87933243-G-T c.484G>T p.D162Y Missense 5/9 - 3
10-87933244-A-G c.485A>G p.D162G Missense 5/9 - 10
10-87933244-A-T c.485A>T p.D162V Missense 5/9 - 10
10-87933243-GAC-G c.486_487del p.D162Efs*17 Frameshift 5/9 - 2
10-87933245-AC-A c.486del p.D162Efs*5 Frameshift 5/9 - 2
10-87933245-ACAAAAAGGT-A c.486_492+2del - SpliceDonorDeletion 5/9 5/8 1
10-87933245-C-A c.486C>A p.D162E Missense 5/9 - 2
10-87933245-C-CT c.486_487insT p.K163* Nonsense 5/9 - 5
10-87933245-C-G c.486C>G p.D162E Missense 5/9 - 5
10-87933246-AA-GC c.487_488delinsGC p.K163A Missense 5/9 - 2
10-87933246-A-C c.487A>C p.K163Q Missense 5/9 - 1
10-87933246-A-G c.487A>G p.K163E Missense 5/9 - 2
10-87933246-A-T c.487A>T p.K163* Nonsense 5/9 - 5
10-87933247-AA-TG c.488_489delinsTG p.K163M Missense 5/9 - 1
10-87933247-A-G c.488A>G p.K163R Missense 5/9 - 5
10-87933248-AAAAG-A c.489_492del p.K164Efs*2 SpliceDonorDeletion 5/9 - 1
10-87933248-A-AT c.489_490insT p.K164* Nonsense 5/9 - 8
10-87933248-A-C c.489A>C p.K163N Missense 5/9 - 1
10-87933249-AAAG-A c.490_492del p.K164del InFrameDeletion 5/9 - 1
10-87933249-AA-GC c.490_491delinsGC p.K164A Missense 5/9 - 6
10-87933249-A-G c.490A>G p.K164E Missense 5/9 - 6
10-87933245-CA-C c.491del p.K164Rfs*3 Frameshift 5/9 - 19
10-87933245-C-CA c.491dup p.V166Sfs*14 SpliceDonorInsertion 5/9 - 16
10-87933247-AAAAGGT-A c.491_492+4del - SpliceDonorDeletion 5/9 5/8 1
10-87933250-A-G c.491A>G p.K164R Missense 5/9 - 3
10-87933251-AGGT-A c.492_492+2del - SpliceDonorDeletion 5/9 5/8 1
10-87933251-G-A c.492G>A p.K164= Synonymous 5/9 - 4
10-87933251-G-C c.492G>C p.K164N Missense 5/9 - 5
10-87933251-G-T c.492G>T p.K164N Missense 5/9 - 4
10-87933248-AAAGGT-A c.492+1_492+5del - SpliceDonorDeletion - 5/8 1
10-87933250-AG-A c.492+1del - IntronicDeletion - 5/8 2
10-87933252-G-A c.492+1G>A - IntronicSNV - 5/8 5
10-87933252-G-C c.492+1G>C - IntronicSNV - 5/8 3
10-87933252-G-T c.492+1G>T - IntronicSNV - 5/8 5
10-87933253-GT-G c.492+2del - IntronicDeletion - 5/8 3
10-87933253-T-A c.492+2T>A - IntronicSNV - 5/8 1
10-87933253-T-C c.492+2T>C - IntronicSNV - 5/8 2
10-87933253-T-G c.492+2T>G - IntronicSNV - 5/8 1
10-87933254-A-G c.492+3A>G - IntronicSNV - 5/8 1
10-87933274-T-G c.492+23T>G - IntronicSNV - 5/8 1
10-87933295-G-A c.492+44G>A - IntronicSNV - 5/8 1
10-87933307-G-A c.492+56G>A - IntronicSNV - 5/8 1
10-87933335-C-A c.492+84C>A - IntronicSNV - 5/8 1
10-87933348-G-A c.492+97G>A - IntronicSNV - 5/8 1
10-87933468-C-T c.492+217C>T - IntronicSNV - 5/8 1
10-87934404-CT-C c.492+1160del - IntronicDeletion - 5/8 1
10-87937504-CA-C c.492+4261del - IntronicDeletion - 5/8 1
10-87937596-C-T c.492+4345C>T - IntronicSNV - 5/8 1
10-87938433-C-A c.492+5182C>A - IntronicSNV - 5/8 3
10-87940384-C-T c.492+7133C>T - IntronicSNV - 5/8 1
10-87940914-G-A c.492+7663G>A - IntronicSNV - 5/8 10
10-87940914-G-C c.492+7663G>C - IntronicSNV - 5/8 10
10-87943629-A-T c.493-8489A>T - IntronicSNV - 5/8 1
10-87944962-A-G c.493-7156A>G - IntronicSNV - 5/8 8
10-87945672-G-C c.493-6446G>C - IntronicSNV - 5/8 16
10-87947508-T-C c.493-4610T>C - IntronicSNV - 5/8 3
10-87947508-T-G c.493-4610T>G - IntronicSNV - 5/8 3
10-87947666-C-T c.493-4452C>T - IntronicSNV - 5/8 1
10-87949659-T-C c.493-2459T>C - IntronicSNV - 5/8 2
10-87951288-A-T c.493-830A>T - IntronicSNV - 5/8 1
10-87952116-A-C c.493-2A>C - IntronicSNV - 5/8 3
10-87952116-A-G c.493-2A>G - IntronicSNV - 5/8 3
10-87952116-A-T c.493-2A>T - IntronicSNV - 5/8 3
10-87952117-G-A c.493-1G>A - IntronicSNV - 5/8 5
10-87952118-G-A c.493G>A p.G165R Missense 6/9 - 57
10-87952118-G-C c.493G>C p.G165R Missense 6/9 - 35
10-87952118-GG-AT c.493_494delinsAT p.G165I Missense 6/9 - 1
10-87952118-GGGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAA-G c.493_551del p.G165Sfs*5 Multi:SpliceAcceptorDeletion,CdsStopDeletion 6/9 - 1
10-87952118-G-T c.493G>T p.G165* Nonsense 6/9 - 24
10-87952116-AG-A c.494del p.G165Efs*2 Frameshift 6/9 - 2
10-87952117-GGGA-G c.494_496del p.G165del InFrameDeletion 6/9 - 1
10-87952119-G-A c.494G>A p.G165E Missense 6/9 - 62
10-87952119-G-C c.494G>C p.G165A Missense 6/9 - 1
10-87952119-GGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAAT-G c.494_552del p.G165Afs*5 InFrameDeletion 6/9 - 8
10-87952119-G-T c.494G>T p.G165V Missense 6/9 - 19
10-87952117-GGGAGTAACTATTCCCAGTCAGA-G c.495_516del p.V166Afs*10 SpliceAcceptorDeletion 6/9 - 1
10-87952118-GGA-G c.495_496del p.V166Nfs*13 SpliceAcceptorDeletion 6/9 - 1
10-87952119-G-GA c.495dup p.V166Sfs*14 Frameshift 6/9 - 8
10-87952120-A-C c.495A>C p.G165= Synonymous 6/9 - 2
10-87952120-A-G c.495A>G p.G165= Synonymous 6/9 - 1
10-87952120-A-T c.495A>T p.G165= Synonymous 6/9 - 3
10-87952121-G-A c.496G>A p.V166I Missense 6/9 - 4
10-87952121-G-C c.496G>C p.V166L Missense 6/9 - 3
10-87952121-G-T c.496G>T p.V166L Missense 6/9 - 4
10-87952121-GT-CA c.496_497delinsCA p.V166Q Missense 6/9 - 1
10-87952121-G-GT c.497dup p.T167Nfs*13 Frameshift 6/9 - 1
10-87952122-GT-G c.497del p.V166Efs*17 Frameshift 6/9 - 1
10-87952122-T-A c.497T>A p.V166E Missense 6/9 - 9
10-87952122-T-C c.497T>C p.V166A Missense 6/9 - 2
10-87952122-T-G c.497T>G p.V166G Missense 6/9 - 3
10-87952119-GAGTAACTATTCCC-G c.498_510del p.T167Rfs*12 Frameshift 6/9 - 1
10-87952123-A-C c.498A>C p.V166= Synonymous 6/9 - 1
10-87952123-A-G c.498A>G p.V166= Synonymous 6/9 - 2
10-87952123-A-T c.498A>T p.V166= Synonymous 6/9 - 1
10-87952121-GTAAC-G c.499_502del p.T167Ffs*15 Frameshift 6/9 - 3
10-87952122-TA-T c.499del p.T167Lfs*16 Frameshift 6/9 - 1
10-87952122-T-TA c.499dup p.T167Nfs*13 Frameshift 6/9 - 1
10-87952124-AAC-A c.499_500del p.T167Yfs*12 Frameshift 6/9 - 1
10-87952124-AACTATTC-A c.499_505del p.T167Pfs*14 Frameshift 6/9 - 2
10-87952124-A-C c.499A>C p.T167P Missense 6/9 - 5
10-87952124-A-G c.499A>G p.T167A Missense 6/9 - 33
10-87952124-A-T c.499A>T p.T167S Missense 6/9 - 11
10-87952125-C-A c.500C>A p.T167N Missense 6/9 - 24
10-87952125-C-G c.500C>G p.T167S Missense 6/9 - 13
10-87952125-C-T c.500C>T p.T167I Missense 6/9 - 5
10-87952126-T-A c.501T>A p.T167= Synonymous 6/9 - 1
10-87952126-T-C c.501T>C p.T167= Synonymous 6/9 - 1
10-87952126-T-G c.501T>G p.T167= Synonymous 6/9 - 1
10-87952125-CTA-C c.502_503del p.I168Sfs*11 Frameshift 6/9 - 7
10-87952127-A-C c.502A>C p.I168L Missense 6/9 - 1
10-87952127-A-G c.502A>G p.I168V Missense 6/9 - 2
10-87952127-A-T c.502A>T p.I168F Missense 6/9 - 5
10-87952128-T-C c.503T>C p.I168T Missense 6/9 - 3
10-87952129-T-A c.504T>A p.I168= Synonymous 6/9 - 1
10-87952129-T-C c.504T>C p.I168= Synonymous 6/9 - 2
10-87952129-T-TG c.504_505insG p.P169Afs*11 Frameshift 6/9 - 1
10-87952130-CCC-TGG c.505_507delinsTGG p.P169W Missense 6/9 - 1
10-87952130-CC-GG c.505_506inv p.P169G Missense 6/9 - 1
10-87952130-C-G c.505C>G p.P169A Missense 6/9 - 1
10-87952130-C-T c.505C>T p.P169S Missense 6/9 - 5
10-87952130-TCCCA-T c.505_508del p.P169Vfs*13 Frameshift 6/9 - 1
10-87952131-C-A c.506C>A p.P169H Missense 6/9 - 6
10-87952131-C-G c.506C>G p.P169R Missense 6/9 - 2
10-87952131-C-T c.506C>T p.P169L Missense 6/9 - 4
10-87952129-TC-T c.507del p.S170Vfs*13 Frameshift 6/9 - 1
10-87952129-T-TC c.507dup p.S170Qfs*10 Frameshift 6/9 - 1
10-87952132-C-A c.507C>A p.P169= Synonymous 6/9 - 1
10-87952132-CCA-C c.507_508del p.Q171Efs*8 Frameshift 6/9 - 2
10-87952132-C-CT c.507_508insT p.S170* Nonsense 6/9 - 1
10-87952132-C-G c.507C>G p.P169= Synonymous 6/9 - 1
10-87952132-C-T c.507C>T p.P169= Synonymous 6/9 - 1
10-87952133-A-G c.508A>G p.S170G Missense 6/9 - 11
10-87952133-AG-TT c.508_509delinsTT p.S170F Missense 6/9 - 1
10-87952133-CA-C c.508del p.S170Vfs*13 Frameshift 6/9 - 1
10-87952134-AG-A c.509del p.S170Ifs*13 Frameshift 6/9 - 1
10-87952134-G-A c.509G>A p.S170N Missense 6/9 - 45
10-87952134-G-C c.509G>C p.S170T Missense 6/9 - 2
10-87952134-G-T c.509G>T p.S170I Missense 6/9 - 32
10-87952131-CCAGT-C c.510_513del p.S170Rfs*12 Frameshift 6/9 - 2
10-87952133-A-C c.508A>C p.S170R Missense 6/9 - 17
10-87952135-T-A c.510T>A p.S170R Missense 6/9 - 24
10-87952135-T-C c.510T>C p.S170= Synonymous 6/9 - 1
10-87952135-T-G c.510T>G p.S170R Missense 6/9 - 25
10-87952136-C-A c.511C>A p.Q171K Missense 6/9 - 16
10-87952136-CA-GC c.511_512delinsGC p.Q171A Missense 6/9 - 3
10-87952136-C-G c.511C>G p.Q171E Missense 6/9 - 26
10-87952136-C-T c.511C>T p.Q171* Nonsense 6/9 - 92
10-87952136-C-CA c.512dup p.R172Efs*8 Frameshift 6/9 - 2
10-87952137-A-C c.512A>C p.Q171P Missense 6/9 - 6
10-87952137-A-G c.512A>G p.Q171R Missense 6/9 - 17
10-87952137-A-T c.512A>T p.Q171L Missense 6/9 - 1
10-87952137-CAGAG-C c.512_515del p.Q171Rfs*11 Frameshift 6/9 - 1
10-87952138-G-A c.513G>A p.Q171= Synonymous 6/9 - 3
10-87952138-G-C c.513G>C p.Q171H Missense 6/9 - 10
10-87952138-G-GT c.513_514insT p.R172* Nonsense 6/9 - 3
10-87952138-G-T c.513G>T p.Q171H Missense 6/9 - 9
10-87952136-CAG-C c.514_515del p.R172Afs*7 Frameshift 6/9 - 1
10-87952137-AGAGGCGCTAT-A c.514_523del p.R172Cfs*8 Frameshift 6/9 - 1
10-87952139-A-G c.514A>G p.R172G Missense 6/9 - 8
10-87952139-AG-CC c.514_515delinsCC p.R172P Missense 6/9 - 6
10-87952139-AGG-CAT c.514_516delinsCAT p.R172H Missense 6/9 - 152
10-87952139-AGG-TGT c.514_516delinsTGT p.R172C Missense 6/9 - 2
10-87952139-AG-TA c.514_515delinsTA p.R172* Nonsense 6/9 - 1
10-87952139-A-T c.514A>T p.R172W Missense 6/9 - 3
10-87952139-GA-G c.514del p.R172Gfs*11 Frameshift 6/9 - 1
10-87952140-G-A c.515G>A p.R172K Missense 6/9 - 4
10-87952139-A-C c.514A>C p.R172= Synonymous 6/9 - 3
10-87952139-AG-A c.516del p.R172Sfs*11 Frameshift 6/9 - 1
10-87952141-G-A c.516G>A p.R172= Synonymous 6/9 - 5
10-87952141-G-C c.516G>C p.R172S Missense 6/9 - 7
10-87952141-G-T c.516G>T p.R172S Missense 6/9 - 7
10-87952142-C-A c.517C>A p.R173S Missense 6/9 - 9
10-87952142-C-G c.517C>G p.R173G Missense 6/9 - 3
10-87952142-CGC-TGA c.517_519delinsTGA p.R173* Nonsense 6/9 - 1
10-87952142-CG-GC c.517_518delinsGC p.R173A Missense 6/9 - 2
10-87952142-C-T c.517C>T p.R173C Missense 6/9 - 175
10-87952142-GC-G c.517del p.R173Afs*10 Frameshift 6/9 - 1
10-87952143-G-A c.518G>A p.R173H Missense 6/9 - 132
10-87952143-G-C c.518G>C p.R173P Missense 6/9 - 26
10-87952143-G-T c.518G>T p.R173L Missense 6/9 - 20
10-87952144-C-A c.519C>A p.R173= Synonymous 6/9 - 2
10-87952144-C-G c.519C>G p.R173= Synonymous 6/9 - 2
10-87952144-C-T c.519C>T p.R173= Synonymous 6/9 - 2
10-87952144-C-CT c.520dup p.Y174Lfs*6 Frameshift 6/9 - 2
10-87952145-T-A c.520T>A p.Y174N Missense 6/9 - 22
10-87952145-T-C c.520T>C p.Y174H Missense 6/9 - 3
10-87952145-T-G c.520T>G p.Y174D Missense 6/9 - 12
10-87952146-A-G c.521A>G p.Y174C Missense 6/9 - 17
10-87952146-A-T c.521A>T p.Y174F Missense 6/9 - 2
10-87952147-T-A c.522T>A p.Y174* Nonsense 6/9 - 3
10-87952147-T-C c.522T>C p.Y174= Synonymous 6/9 - 1
10-87952147-T-G c.522T>G p.Y174* Nonsense 6/9 - 3
10-87952148-G-A c.523G>A p.V175M Missense 6/9 - 8
10-87952148-G-C c.523G>C p.V175L Missense 6/9 - 8
10-87952148-G-T c.523G>T p.V175L Missense 6/9 - 10
10-87952148-GTG-ATC c.523_525delinsATC p.V175I Missense 6/9 - 1
10-87952148-TGTGTA-T c.523_527del p.V175Lfs*3 Frameshift 6/9 - 1
10-87952146-ATGTGTATTATTATAGCTACCTGTTAAAGAATCATC-A c.524_558del p.V175Gfs*3 Frameshift 6/9 - 1
10-87952149-T-A c.524T>A p.V175E Missense 6/9 - 7
10-87952149-T-C c.524T>C p.V175A Missense 6/9 - 8
10-87952149-T-G c.524T>G p.V175G Missense 6/9 - 2
10-87952146-ATG-A c.525_526del p.Y176Lfs*3 Frameshift 6/9 - 2
10-87952148-GTGTATTA-G c.525_531del p.Y176Ifs*5 Frameshift 6/9 - 1
10-87952150-G-A c.525G>A p.V175= Synonymous 6/9 - 1
10-87952150-G-C c.525G>C p.V175= Synonymous 6/9 - 1
10-87952150-G-T c.525G>T p.V175= Synonymous 6/9 - 1
10-87952151-TA-GG c.526_527delinsGG p.Y176G Missense 6/9 - 1
10-87952151-T-C c.526T>C p.Y176H Missense 6/9 - 1
10-87952152-A-G c.527A>G p.Y176C Missense 6/9 - 23
10-87952153-T-A c.528T>A p.Y176* Nonsense 6/9 - 11
10-87952153-T-C c.528T>C p.Y176= Synonymous 6/9 - 1
10-87952153-T-G c.528T>G p.Y176* Nonsense 6/9 - 15
10-87952152-AT-A c.529del p.Y177Ifs*6 Frameshift 6/9 - 1
10-87952154-T-A c.529T>A p.Y177N Missense 6/9 - 2
10-87952154-TA-AC c.529_530delinsAC p.Y177T Missense 6/9 - 1
10-87952154-T-C c.529T>C p.Y177H Missense 6/9 - 3
10-87952154-T-G c.529T>G p.Y177D Missense 6/9 - 1
10-87952153-TTA-T c.530_531del p.Y177Lfs*2 Frameshift 6/9 - 1
10-87952155-A-C c.530A>C p.Y177S Missense 6/9 - 4
10-87952155-A-G c.530A>G p.Y177C Missense 6/9 - 13
10-87952155-A-T c.530A>T p.Y177F Missense 6/9 - 9
10-87952155-TA-T c.530del p.Y177Ffs*6 Frameshift 6/9 - 1
10-87952156-T-A c.531T>A p.Y177* Nonsense 6/9 - 7
10-87952156-T-C c.531T>C p.Y177= Synonymous 6/9 - 5
10-87952156-T-G c.531T>G p.Y177* Nonsense 6/9 - 11
10-87952150-GTAT-G c.532_534del p.Y178del InFrameDeletion 6/9 - 13
10-87952155-A-AT c.532dup p.Y178Lfs*2 Frameshift 6/9 - 1
10-87952157-T-A c.532T>A p.Y178N Missense 6/9 - 1
10-87952157-TA-AT c.532_533delinsAT p.Y178I Missense 6/9 - 1
10-87952157-T-C c.532T>C p.Y178H Missense 6/9 - 3
10-87952157-T-G c.532T>G p.Y178D Missense 6/9 - 1
10-87952158-A-G c.533A>G p.Y178C Missense 6/9 - 13
10-87952158-A-T c.533A>T p.Y178F Missense 6/9 - 2
10-87952158-A-AT c.534dup p.S179* Nonsense 6/9 - 2
10-87952159-T-A c.534T>A p.Y178* Nonsense 6/9 - 16
10-87952159-T-C c.534T>C p.Y178= Synonymous 6/9 - 3
10-87952159-T-G c.534T>G p.Y178* Nonsense 6/9 - 11
10-87952160-A-G c.535A>G p.S179G Missense 6/9 - 1
10-87952160-AG-GA c.535_536delinsGA p.S179D Missense 6/9 - 2
10-87952160-AG-GC c.535_536delinsGC p.S179A Missense 6/9 - 1
10-87952160-A-T c.535A>T p.S179C Missense 6/9 - 1
10-87952161-G-A c.536G>A p.S179N Missense 6/9 - 1
10-87952161-G-T c.536G>T p.S179I Missense 6/9 - 4
10-87952162-C-T c.537C>T p.S179= Synonymous 6/9 - 2
10-87952162-GC-G c.537del p.Y180Tfs*3 Frameshift 6/9 - 1
10-87952163-T-A c.538T>A p.Y180N Missense 6/9 - 2
10-87952163-TAC-GAG c.538_540delinsGAG p.Y180E Missense 6/9 - 1
10-87952163-T-C c.538T>C p.Y180H Missense 6/9 - 4
10-87952164-A-G c.539A>G p.Y180C Missense 6/9 - 3
10-87952164-A-T c.539A>T p.Y180F Missense 6/9 - 4
10-87952162-CTACCTGT-C c.540_546del p.Y180* Frameshift 6/9 - 1
10-87952165-C-A c.540C>A p.Y180* Nonsense 6/9 - 13
10-87952165-C-G c.540C>G p.Y180* Nonsense 6/9 - 11
10-87952165-C-T c.540C>T p.Y180= Synonymous 6/9 - 1
10-87952165-C-TCTGTT c.540delinsTCTGTT p.L182Ffs*3 Frameshift 6/9 - 1
10-87952164-AC-A c.541del p.L181Cfs*2 Frameshift 6/9 - 2
10-87952166-C-A c.541C>A p.L181M Missense 6/9 - 2
10-87952166-C-G c.541C>G p.L181V Missense 6/9 - 1
10-87952167-CT-C c.542del p.L181Rfs*2 Frameshift 6/9 - 1
10-87952167-T-A c.542T>A p.L181Q Missense 6/9 - 1
10-87952167-T-C c.542T>C p.L181P Missense 6/9 - 15
10-87952166-C-T c.541C>T p.L181= Synonymous 6/9 - 2
10-87952168-G-A c.543G>A p.L181= Synonymous 6/9 - 2
10-87952168-G-C c.543G>C p.L181= Synonymous 6/9 - 2
10-87952168-G-T c.543G>T p.L181= Synonymous 6/9 - 2
10-87952169-T-C c.544T>C p.L182= Synonymous 6/9 - 1
10-87952169-T-G c.544T>G p.L182V Missense 6/9 - 7
10-87952169-TTA-AAC c.544_546delinsAAC p.L182N Missense 6/9 - 1
10-87952171-A-G c.546A>G p.L182= Synonymous 6/9 - 1
10-87952168-G-GT c.545dup p.L182Ffs*8 Frameshift 6/9 - 1
10-87952168-GT-G c.545del p.L182* Frameshift 6/9 - 1
10-87952170-T-A c.545T>A p.L182* Nonsense 6/9 - 8
10-87952170-T-C c.545T>C p.L182S Missense 6/9 - 8
10-87952170-T-G c.545T>G p.L182* Nonsense 6/9 - 11
10-87952171-A-AT c.546_547insT p.K183* Nonsense 6/9 - 4
10-87952171-A-C c.546A>C p.L182F Missense 6/9 - 4
10-87952171-A-T c.546A>T p.L182F Missense 6/9 - 5
10-87952170-TAA-T c.547_548del p.K183Efs*6 Frameshift 6/9 - 4
10-87952172-A-G c.547A>G p.K183E Missense 6/9 - 2
10-87952172-A-T c.547A>T p.K183* Nonsense 6/9 - 2
10-87952170-TAAAG-T c.548_551del p.K183Ifs*15 Frameshift 6/9 - 2
10-87952170-TA-T c.548del p.K183Rfs*16 Frameshift 6/9 - 8
10-87952170-T-TA c.548dup p.N184Efs*6 Frameshift 6/9 - 8
10-87952171-AAAGAATC-A c.548_554del p.K183Ifs*14 Frameshift 6/9 - 1
10-87952173-A-G c.548A>G p.K183R Missense 6/9 - 5
10-87952173-A-AG c.549dup p.N184Efs*6 Frameshift 6/9 - 4
10-87952174-AG-A c.549del p.N184Ifs*15 Frameshift 6/9 - 1
10-87952174-G-A c.549G>A p.K183= Synonymous 6/9 - 2
10-87952174-G-C c.549G>C p.K183N Missense 6/9 - 2
10-87952174-G-GT c.549_550insT p.N184* Nonsense 6/9 - 3
10-87952174-G-T c.549G>T p.K183N Missense 6/9 - 7
10-87952175-A-G c.550A>G p.N184D Missense 6/9 - 1
10-87952174-G-GA c.551dup p.N184Kfs*6 Frameshift 6/9 - 1
10-87952176-A-G c.551A>G p.N184S Missense 6/9 - 1
10-87952176-A-T c.551A>T p.N184I Missense 6/9 - 4
10-87952177-AT-A c.552del p.H185Ifs*14 Frameshift 6/9 - 1
10-87952177-T-C c.552T>C p.N184= Synonymous 6/9 - 1
10-87952178-C-A c.553C>A p.H185N Missense 6/9 - 1
10-87952178-C-G c.553C>G p.H185D Missense 6/9 - 4
10-87952178-C-T c.553C>T p.H185Y Missense 6/9 - 3
10-87952178-TC-T c.553del p.H185Ifs*14 Frameshift 6/9 - 1
10-87952179-A-G c.554A>G p.H185R Missense 6/9 - 3
10-87952177-TCATCTGGATTATAGAC-T c.555_570del p.H185Qfs*9 Frameshift 6/9 - 2
10-87952180-T-C c.555T>C p.H185= Synonymous 6/9 - 1
10-87952181-C-A c.556C>A p.L186M Missense 6/9 - 1
10-87952181-C-G c.556C>G p.L186V Missense 6/9 - 2
10-87952181-CTG-AAC c.556_558delinsAAC p.L186N Missense 6/9 - 1
10-87952181-CTG-GTAAAGAACCATGTA c.556_558delinsGTAAAGAACCATGTA p.L186delinsVKNHV MultiAAMissense 6/9 - 1
10-87952180-TCTGGATTATAGACCAGTGGCACTGTTGTTTCA-T c.557_588del p.L186Qfs*5 Frameshift 6/9 - 1
10-87952182-T-A c.557T>A p.L186Q Missense 6/9 - 1
10-87952182-T-C c.557T>C p.L186P Missense 6/9 - 1
10-87952181-C-T c.556C>T p.L186= Synonymous 6/9 - 1
10-87952183-G-A c.558G>A p.L186= Synonymous 6/9 - 2
10-87952183-G-C c.558G>C p.L186= Synonymous 6/9 - 1
10-87952183-G-T c.558G>T p.L186= Synonymous 6/9 - 1
10-87952184-G-A c.559G>A p.D187N Missense 6/9 - 3
10-87952184-G-T c.559G>T p.D187Y Missense 6/9 - 2
10-87952185-A-G c.560A>G p.D187G Missense 6/9 - 2
10-87952183-GGATTATA-G c.561_567del p.Y188Qfs*9 Frameshift 6/9 - 2
10-87952186-T-C c.561T>C p.D187= Synonymous 6/9 - 1
10-87952186-T-G c.561T>G p.D187E Missense 6/9 - 1
10-87952185-A-AT c.562dup p.Y188Lfs*2 Frameshift 6/9 - 1
10-87952185-AT-A c.562del p.Y188Ifs*11 Frameshift 6/9 - 1
10-87952187-T-A c.562T>A p.Y188N Missense 6/9 - 1
10-87952187-T-C c.562T>C p.Y188H Missense 6/9 - 4
10-87952187-T-G c.562T>G p.Y188D Missense 6/9 - 2
10-87952188-A-C c.563A>C p.Y188S Missense 6/9 - 1
10-87952188-A-G c.563A>G p.Y188C Missense 6/9 - 2
10-87952188-A-T c.563A>T p.Y188F Missense 6/9 - 1
10-87952189-T-A c.564T>A p.Y188* Nonsense 6/9 - 4
10-87952189-T-C c.564T>C p.Y188= Synonymous 6/9 - 1
10-87952189-T-G c.564T>G p.Y188* Nonsense 6/9 - 2
10-87952190-A-C c.565A>C p.R189= Synonymous 6/9 - 3
10-87952190-A-G c.565A>G p.R189G Missense 6/9 - 3
10-87952190-AGA-CAT c.565_567delinsCAT p.R189H Missense 6/9 - 3
10-87952190-AG-CA c.565_566delinsCA p.R189Q Missense 6/9 - 1
10-87952190-A-T c.565A>T p.R189* Nonsense 6/9 - 7
10-87952190-TAGACCAGTGGCACTG-T c.565_579del p.R189_L193del InFrameDeletion 6/9 - 1
10-87952191-AG-A c.566del p.R189Nfs*10 Frameshift 6/9 - 3
10-87952191-G-A c.566G>A p.R189K Missense 6/9 - 4
10-87952191-G-C c.566G>C p.R189T Missense 6/9 - 2
10-87952192-A-C c.567A>C p.R189S Missense 6/9 - 1
10-87952192-A-G c.567A>G p.R189= Synonymous 6/9 - 2
10-87952192-A-T c.567A>T p.R189S Missense 6/9 - 2
10-87952193-C-G c.568C>G p.P190A Missense 6/9 - 8
10-87952193-C-T c.568C>T p.P190S Missense 6/9 - 6
10-87952192-A-AC c.569dup p.V191Sfs*11 Frameshift 6/9 - 5
10-87952192-AC-A c.569del p.P190Qfs*9 Frameshift 6/9 - 2
10-87952194-C-A c.569C>A p.P190Q Missense 6/9 - 1
10-87952194-C-CCCGAGGATAATAG c.569_570insCCGAGGATAATAG p.V191Rfs*3 Frameshift 6/9 - 1
10-87952194-C-T c.569C>T p.P190L Missense 6/9 - 8
10-87952194-C-CA c.570dup p.V191Sfs*11 Frameshift 6/9 - 1
10-87952195-A-AG c.571dup p.V191Gfs*11 Frameshift 6/9 - 1
10-87952196-G-C c.571G>C p.V191L Missense 6/9 - 1
10-87952196-G-T c.571G>T p.V191L Missense 6/9 - 1
10-87952196-GT-TC c.571_572delinsTC p.V191S Missense 6/9 - 1
10-87952195-AGT-A c.572_573del p.V191Gfs*10 Frameshift 6/9 - 1
10-87952195-AGTG-A c.572_574del p.V191del InFrameDeletion 6/9 - 1
10-87952197-T-C c.572T>C p.V191A Missense 6/9 - 3
10-87952197-T-G c.572T>G p.V191G Missense 6/9 - 1
10-87952198-G-A c.573G>A p.V191= Synonymous 6/9 - 1
10-87952198-G-C c.573G>C p.V191= Synonymous 6/9 - 1
10-87952198-G-T c.573G>T p.V191= Synonymous 6/9 - 2
10-87952197-TG-T c.574del p.A192Hfs*7 Frameshift 6/9 - 1
10-87952199-G-A c.574G>A p.A192T Missense 6/9 - 4
10-87952200-C-T c.575C>T p.A192V Missense 6/9 - 2
10-87952200-GC-G c.575del p.A192Dfs*7 Frameshift 6/9 - 1
10-87952201-A-C c.576A>C p.A192= Synonymous 6/9 - 1
10-87952201-A-G c.576A>G p.A192= Synonymous 6/9 - 1
10-87952201-A-T c.576A>T p.A192= Synonymous 6/9 - 1
10-87952203-CT-C c.578del p.L193Rfs*6 Frameshift 6/9 - 2
10-87952203-T-A c.578T>A p.L193Q Missense 6/9 - 2
10-87952203-T-C c.578T>C p.L193P Missense 6/9 - 10
10-87952202-C-T c.577C>T p.L193= Synonymous 6/9 - 5
10-87952204-G-A c.579G>A p.L193= Synonymous 6/9 - 10
10-87952204-G-C c.579G>C p.L193= Synonymous 6/9 - 5
10-87952204-G-T c.579G>T p.L193= Synonymous 6/9 - 5
10-87952205-T-C c.580T>C p.L194= Synonymous 6/9 - 3
10-87952205-TT-AG c.580_581delinsAG p.L194R Missense 6/9 - 1
10-87952207-G-A c.582G>A p.L194= Synonymous 6/9 - 3
10-87952206-T-A c.581T>A p.L194* Nonsense 6/9 - 1
10-87952206-T-C c.581T>C p.L194S Missense 6/9 - 1
10-87952206-T-G c.581T>G p.L194W Missense 6/9 - 1
10-87952202-CTGT-C c.582_584del p.L194del InFrameDeletion 6/9 - 4
10-87952207-G-C c.582G>C p.L194F Missense 6/9 - 4
10-87952207-G-T c.582G>T p.L194F Missense 6/9 - 4
10-87952208-T-A c.583T>A p.F195I Missense 6/9 - 3
10-87952208-T-C c.583T>C p.F195L Missense 6/9 - 3
10-87952210-T-A c.585T>A p.F195L Missense 6/9 - 3
10-87952210-T-G c.585T>G p.F195L Missense 6/9 - 3
10-87952209-T-C c.584T>C p.F195S Missense 6/9 - 7
10-87952207-G-GT c.585dup p.H196Sfs*6 Frameshift 6/9 - 2
10-87952207-GT-G c.585del p.H196Tfs*3 Frameshift 6/9 - 2
10-87952210-T-TTC c.585_586insTC p.H196Sfs*4 Frameshift 6/9 - 1
10-87952205-TTGTTTCACAAGATGA-T c.586_600del p.H196_F200del InFrameDeletion 6/9 - 1
10-87952211-C-CT c.586_587insT p.H196Lfs*6 Frameshift 6/9 - 1
10-87952211-C-T c.586C>T p.H196Y Missense 6/9 - 10
10-87952211-TC-T c.586del p.H196Tfs*3 Frameshift 6/9 - 1
10-87952208-TTTCACAAGATGATGTTTGAAACTA-T c.587_610del p.H196_I203del InFrameDeletion 6/9 - 1
10-87952212-A-G c.587A>G p.H196R Missense 6/9 - 1
10-87952212-A-T c.587A>T p.H196L Missense 6/9 - 1
10-87952211-CACAAGATGATGTTTGA-C c.588_603del p.H196Qfs*20 Frameshift 6/9 - 1
10-87952212-A-AC c.588dup p.K197Qfs*5 Frameshift 6/9 - 2
10-87952213-C-CT c.588_589insT p.K197* Nonsense 6/9 - 3
10-87952213-C-T c.588C>T p.H196= Synonymous 6/9 - 1
10-87952214-AA-GC c.589_590delinsGC p.K197A Missense 6/9 - 1
10-87952214-A-T c.589A>T p.K197* Nonsense 6/9 - 3
10-87952213-CA-C c.590del p.K197Rfs*2 Frameshift 6/9 - 3
10-87952215-A-G c.590A>G p.K197R Missense 6/9 - 4
10-87952215-A-T c.590A>T p.K197M Missense 6/9 - 2
10-87952216-AGATGATGT-A c.591_598del p.K197Nfs*2 Frameshift 6/9 - 1
10-87952216-G-A c.591G>A p.K197= Synonymous 6/9 - 1
10-87952216-G-C c.591G>C p.K197N Missense 6/9 - 1
10-87952216-G-GAA c.592_593insAA p.M198Kfs*2 Frameshift 6/9 - 1
10-87952217-A-G c.592A>G p.M198V Missense 6/9 - 3
10-87952217-AT-TA c.592_593delinsTA p.M198* Nonsense 6/9 - 1
10-87952217-GA-G c.592del p.M198* Frameshift 6/9 - 1
10-87952215-AGATGATGTTT-A c.593_602del p.M198Kfs*20 Frameshift 6/9 - 1
10-87952218-AT-A c.593del p.M198Rfs*23 Frameshift 6/9 - 1
10-87952218-T-A c.593T>A p.M198K Missense 6/9 - 17
10-87952218-T-C c.593T>C p.M198T Missense 6/9 - 5
10-87952218-T-G c.593T>G p.M198R Missense 6/9 - 1
10-87952219-G-A c.594G>A p.M198I Missense 6/9 - 4
10-87952219-G-C c.594G>C p.M198I Missense 6/9 - 3
10-87952219-G-T c.594G>T p.M198I Missense 6/9 - 3
10-87952215-AGAT-A c.595_597del p.M199del InFrameDeletion 6/9 - 8
10-87952220-A-G c.595A>G p.M199V Missense 6/9 - 3
10-87952220-GAT-G c.595_596del p.M199Vfs*2 Frameshift 6/9 - 1
10-87952221-T-A c.596T>A p.M199K Missense 6/9 - 3
10-87952221-T-C c.596T>C p.M199T Missense 6/9 - 2
10-87952221-T-G c.596T>G p.M199R Missense 6/9 - 4
10-87952221-TG-AC c.596_597delinsAC p.M199N Missense 6/9 - 1
10-87952223-T-A c.598T>A p.F200I Missense 6/9 - 2
10-87952223-T-G c.598T>G p.F200V Missense 6/9 - 5
10-87952223-TT-GC c.598_599delinsGC p.F200A Missense 6/9 - 1
10-87952224-T-C c.599T>C p.F200S Missense 6/9 - 6
10-87952224-T-G c.599T>G p.F200C Missense 6/9 - 3
10-87952222-G-GT c.600dup p.E201* Nonsense 6/9 - 1
10-87952222-GT-G c.600del p.F200Lfs*21 Frameshift 6/9 - 1
10-87952225-T-C c.600T>C p.F200= Synonymous 6/9 - 1
10-87952219-G-GATGTTTGGAA c.601_602insGAAATGTTTG p.E201Gfs*4 Frameshift 6/9 - 1
10-87952226-G-A c.601G>A p.E201K Missense 6/9 - 3
10-87952226-G-C c.601G>C p.E201Q Missense 6/9 - 1
10-87952226-G-T c.601G>T p.E201* Nonsense 6/9 - 15
10-87952228-A-C c.603A>C p.E201D Missense 6/9 - 1
10-87952228-A-T c.603A>T p.E201D Missense 6/9 - 1
10-87952226-G-GA c.604dup p.T202Nfs*41 Frameshift 6/9 - 1
10-87952229-AC-TA c.604_605delinsTA p.T202Y Missense 6/9 - 1
10-87952229-AC-TG c.604_605delinsTG p.T202C Missense 6/9 - 2
10-87952229-ACT-TAA c.604_606delinsTAA p.T202* Nonsense 6/9 - 1
10-87952229-A-G c.604A>G p.T202A Missense 6/9 - 1
10-87952229-A-T c.604A>T p.T202S Missense 6/9 - 4
10-87952230-C-G c.605C>G p.T202S Missense 6/9 - 1
10-87952230-C-T c.605C>T p.T202I Missense 6/9 - 14
10-87952231-T-A c.606T>A p.T202= Synonymous 6/9 - 1
10-87952231-T-C c.606T>C p.T202= Synonymous 6/9 - 1
10-87952231-T-G c.606T>G p.T202= Synonymous 6/9 - 3
10-87952230-CTA-C c.607_608del p.I203Sfs*39 Frameshift 6/9 - 5
10-87952230-CTAT-C c.607_609del p.I203del InFrameDeletion 6/9 - 1
10-87952232-A-G c.607A>G p.I203V Missense 6/9 - 3
10-87952232-TA-T c.607del p.I203Ffs*18 Frameshift 6/9 - 1
10-87952233-T-C c.608T>C p.I203T Missense 6/9 - 1
10-87952234-TCC-ATAAAT c.609_611delinsATAAAT p.P204delins* Missense 6/9 - 1
10-87952234-T-G c.609T>G p.I203M Missense 6/9 - 2
10-87952234-TTCCAATGTTCAGTGGCG-T c.609_625del p.I203Mfs*34 Frameshift 6/9 - 1
10-87952235-C-A c.610C>A p.P204T Missense 6/9 - 7
10-87952235-CC-TT c.610_611delinsTT p.P204L Missense 6/9 - 1
10-87952235-C-G c.610C>G p.P204A Missense 6/9 - 12
10-87952235-C-T c.610C>T p.P204S Missense 6/9 - 13
10-87952234-TC-T c.611del p.P204Qfs*17 Frameshift 6/9 - 5
10-87952236-C-G c.611C>G p.P204R Missense 6/9 - 1
10-87952236-C-T c.611C>T p.P204L Missense 6/9 - 19
10-87952237-A-C c.612A>C p.P204= Synonymous 6/9 - 1
10-87952237-A-G c.612A>G p.P204= Synonymous 6/9 - 2
10-87952237-A-T c.612A>T p.P204= Synonymous 6/9 - 1
10-87952237-CAATGTTCAGTGGCGGAACTTG-C c.612_632del p.M205_C211del InFrameDeletion 6/9 - 1
10-87952235-CCAATGTT-C c.613_619del p.M205Vfs*14 Frameshift 6/9 - 1
10-87952236-CA-C c.613del p.M205Cfs*16 Frameshift 6/9 - 3
10-87952238-A-C c.613A>C p.M205L Missense 6/9 - 1
10-87952238-A-G c.613A>G p.M205V Missense 6/9 - 17
10-87952238-A-T c.613A>T p.M205L Missense 6/9 - 2
10-87952238-AT-GC c.613_614delinsGC p.M205A Missense 6/9 - 2
10-87952239-AT-A c.614del p.M205Sfs*16 Frameshift 6/9 - 1
10-87952239-T-C c.614T>C p.M205T Missense 6/9 - 1
10-87952239-T-G c.614T>G p.M205R Missense 6/9 - 1
10-87952240-G-A c.615G>A p.M205I Missense 6/9 - 6
10-87952240-G-C c.615G>C p.M205I Missense 6/9 - 4
10-87952240-G-T c.615G>T p.M205I Missense 6/9 - 4
10-87952238-ATGTTCAG-A c.616_622del p.F206Afs*13 Frameshift 6/9 - 1
10-87952241-T-C c.616T>C p.F206L Missense 6/9 - 2
10-87952243-C-A c.618C>A p.F206L Missense 6/9 - 1
10-87952243-C-G c.618C>G p.F206L Missense 6/9 - 1
10-87952239-TGTTCA-T c.617_621del p.F206Wfs*35 Frameshift 6/9 - 1
10-87952243-C-CT c.618_619insT p.S207* Nonsense 6/9 - 2
10-87952243-C-T c.618C>T p.F206= Synonymous 6/9 - 3
10-87952243-TCA-T c.618_619del p.F206Lfs*36 Frameshift 6/9 - 1
10-87952243-TC-T c.618del p.F206Lfs*15 Frameshift 6/9 - 2
10-87952244-AG-GC c.619_620delinsGC p.S207A Missense 6/9 - 1
10-87952244-AGT-GAG c.619_621delinsGAG p.S207E Missense 6/9 - 1
10-87952244-A-T c.619A>T p.S207C Missense 6/9 - 2
10-87952244-CA-C c.619del p.S207Vfs*14 Frameshift 6/9 - 1
10-87952245-G-A c.620G>A p.S207N Missense 6/9 - 2
10-87952245-G-C c.620G>C p.S207T Missense 6/9 - 1
10-87952245-G-T c.620G>T p.S207I Missense 6/9 - 1
10-87952244-A-C c.619A>C p.S207R Missense 6/9 - 2
10-87952246-T-A c.621T>A p.S207R Missense 6/9 - 2
10-87952246-T-C c.621T>C p.S207= Synonymous 6/9 - 1
10-87952246-T-G c.621T>G p.S207R Missense 6/9 - 2
10-87952247-G-A c.622G>A p.G208S Missense 6/9 - 1
10-87952247-G-C c.622G>C p.G208R Missense 6/9 - 1
10-87952247-G-GT c.622_623insT p.G208Vfs*35 Frameshift 6/9 - 1
10-87952248-G-A c.623G>A p.G208D Missense 6/9 - 3
10-87952248-GC-AG c.623_624delinsAG p.G208E Missense 6/9 - 1
10-87952248-G-T c.623G>T p.G208V Missense 6/9 - 1
10-87952249-C-A c.624C>A p.G208= Synonymous 6/9 - 3
10-87952249-C-G c.624C>G p.G208= Synonymous 6/9 - 4
10-87952249-C-T c.624C>T p.G208= Synonymous 6/9 - 5
10-87952250-G-A c.625G>A p.G209R Missense 6/9 - 7
10-87952250-G-C c.625G>C p.G209R Missense 6/9 - 3
10-87952250-GGA-AGC c.625_627delinsAGC p.G209S Missense 6/9 - 1
10-87952250-G-T c.625G>T p.G209* Nonsense 6/9 - 14
10-87952249-CG-C c.626del p.G209Efs*12 Frameshift 6/9 - 4
10-87952251-G-A c.626G>A p.G209E Missense 6/9 - 4
10-87952251-G-C c.626G>C p.G209A Missense 6/9 - 3
10-87952251-G-T c.626G>T p.G209V Missense 6/9 - 3
10-87952251-GA-G c.628del p.T210Lfs*11 Frameshift 6/9 - 2
10-87952251-G-GA c.628dup p.T210Nfs*33 Frameshift 6/9 - 1
10-87952253-AACTTGCAGTAAGTGCTTGAAATTCT-A c.628_634+18del - SpliceDonorDeletion 6/9 6/8 1
10-87952253-AC-GA c.628_629delinsGA p.T210D Missense 6/9 - 3
10-87952253-A-G c.628A>G p.T210A Missense 6/9 - 2
10-87952254-AC-A c.629del p.T210Ifs*11 Frameshift 6/9 - 2
10-87952254-C-T c.629C>T p.T210I Missense 6/9 - 3
10-87952255-T-TC c.630_631insC p.C211Lfs*32 Frameshift 6/9 - 1
10-87952256-T-C c.631T>C p.C211R Missense 6/9 - 2
10-87952256-TGC-CAA c.631_633delinsCAA p.C211Q Missense 6/9 - 1
10-87952256-TG-GC c.631_632delinsGC p.C211A Missense 6/9 - 1
10-87952256-T-TA c.631_632insA p.C211* Nonsense 6/9 - 2
10-87952256-TTGCAGTAAGTGCTTGA-T c.631_634+12del - SpliceDonorDeletion 6/9 6/8 1
10-87952256-T-TG c.632dup p.C211Wfs*32 SpliceDonorInsertion 6/9 - 7
10-87952257-G-A c.632G>A p.C211Y Missense 6/9 - 6
10-87952257-TGC-T c.632_633del p.C211* SpliceDonorDeletion 6/9 - 1
10-87952257-TG-T c.632del p.C211Sfs*10 Frameshift 6/9 - 1
10-87952257-G-GC c.633dup p.N212Qfs*31 SpliceDonorInsertion 6/9 - 2
10-87952258-C-A c.633C>A p.C211* Nonsense 6/9 - 15
10-87952258-C-CG c.633_634insG p.N212Efs*31 SpliceDonorInsertion 6/9 - 2
10-87952258-C-CT c.633_634insT p.N212* SpliceDonorInsertion 6/9 - 5
10-87952258-C-G c.633C>G p.C211W Missense 6/9 - 13
10-87952258-C-T c.633C>T p.C211= Synonymous 6/9 - 1
10-87952258-GCAGT-G c.633_634+2del - SpliceDonorDeletion 6/9 6/8 1
10-87952255-TTGCAGTAAG-T c.634_634+8del - SpliceDonorDeletion 6/9 6/8 1
10-87952258-C-CA c.634dup p.N212Kfs*31 SpliceDonorInsertion - - 1
10-87952259-A-G c.634A>G p.N212D Missense 6/9 - 2
10-87952259-CA-C c.634del p.N212Ifs*9 Frameshift 6/9 - 1
10-87952259-CAGTAAGTG-C c.634_634+7del - SpliceDonorDeletion 6/9 6/8 1
10-87952260-G-A c.634+1G>A - IntronicSNV - 6/8 6
10-87952260-G-C c.634+1G>C - IntronicSNV - 6/8 8
10-87952260-G-T c.634+1G>T - IntronicSNV - 6/8 5
10-87952261-T-A c.634+2T>A - IntronicSNV - 6/8 1
10-87952261-T-C c.634+2T>C - IntronicSNV - 6/8 11
10-87952261-T-G c.634+2T>G - IntronicSNV - 6/8 2
10-87952258-CAGTA-C c.634+3_634+6del - SpliceDonorDeletion - 6/8 1
10-87952262-A-C c.634+3A>C - IntronicSNV - 6/8 1
10-87952259-AGTAAGTGCTTGAAATTCTCATCCTTCCAT-A c.634+4_634+32del - IntronicDeletion - 6/8 1
10-87952263-A-T c.634+4A>T - IntronicSNV - 6/8 4
10-87952264-G-A c.634+5G>A - IntronicSNV - 6/8 7
10-87952264-G-C c.634+5G>C - IntronicSNV - 6/8 3
10-87952264-G-T c.634+5G>T - IntronicSNV - 6/8 3
10-87952716-G-A c.634+457G>A - IntronicSNV - 6/8 3
10-87953243-C-T c.634+984C>T - IntronicSNV - 6/8 1
10-87956350-T-C c.635-1503T>C - IntronicSNV - 6/8 3
10-87957852-G-A c.635-1G>A - IntronicSNV - 6/8 1
10-87957852-G-C c.635-1G>C - IntronicSNV - 6/8 1
10-87957852-G-T c.635-1G>T - IntronicSNV - 6/8 1
10-87957849-GCAGATCCT-G c.635_642del p.N212Ifs*28 SpliceAcceptorDeletion 7/9 - 1
10-87957852-G-GA c.635dup p.N212Kfs*31 SpliceAcceptorInsertion 7/9 - 2
10-87957853-GA-G c.635del p.N212Ifs*9 Frameshift 7/9 - 1
10-87957855-C-G c.637C>G p.P213A Missense 7/9 - 1
10-87957855-C-T c.637C>T p.P213S Missense 7/9 - 7
10-87957855-TCCTCAGTTTGTGGTCTGCCAGCTAAAGGTGAAGATATATTCCTCCAATTCAGGACCCAC-T c.637_695del p.P213Tfs*10 Multi:SpliceAcceptorDeletion,CdsStopDeletion 7/9 - 2
10-87957853-ATCC-A c.638_640del p.P213del InFrameDeletion 7/9 - 1
10-87957854-TC-T c.638del p.P213Lfs*8 Frameshift 7/9 - 7
10-87957856-C-A c.638C>A p.P213H Missense 7/9 - 6
10-87957856-C-T c.638C>T p.P213L Missense 7/9 - 4
10-87957857-T-TC c.640dup p.Q214Pfs*29 Frameshift 7/9 - 1
10-87957858-C-T c.640C>T p.Q214* Nonsense 7/9 - 76
10-87957858-TCA-T c.640_641del p.Q214Vfs*28 Frameshift 7/9 - 2
10-87957858-C-CA c.641dup p.F215Vfs*28 Frameshift 7/9 - 1
10-87957859-A-C c.641A>C p.Q214P Missense 7/9 - 1
10-87957859-A-G c.641A>G p.Q214R Missense 7/9 - 3
10-87957859-A-T c.641A>T p.Q214L Missense 7/9 - 1
10-87957859-CA-C c.641del p.Q214Rfs*7 Frameshift 7/9 - 2
10-87957859-A-AG c.642dup p.F215Vfs*28 Frameshift 7/9 - 1
10-87957860-AG-A c.642del p.Q214Hfs*7 Frameshift 7/9 - 1
10-87957860-G-C c.642G>C p.Q214H Missense 7/9 - 1
10-87957860-G-T c.642G>T p.Q214H Missense 7/9 - 1
10-87957857-TCAGTTTGTGGTCTGC-T c.643_657del p.F215_Q219del InFrameDeletion 7/9 - 2
10-87957861-T-A c.643T>A p.F215I Missense 7/9 - 1
10-87957862-T-C c.644T>C p.F215S Missense 7/9 - 9
10-87957862-T-G c.644T>G p.F215C Missense 7/9 - 4
10-87957860-G-GT c.645dup p.V216Cfs*27 Frameshift 7/9 - 1
10-87957860-GT-G c.645del p.F215Lfs*6 Frameshift 7/9 - 1
10-87957864-G-A c.646G>A p.V216M Missense 7/9 - 7
10-87957864-G-C c.646G>C p.V216L Missense 7/9 - 1
10-87957864-G-T c.646G>T p.V216L Missense 7/9 - 1
10-87957864-GTG-ATC c.646_648delinsATC p.V216I Missense 7/9 - 2
10-87957864-TG-T c.646del p.V216Wfs*5 Frameshift 7/9 - 1
10-87957862-TTG-T c.647_648del p.V216Gfs*26 Frameshift 7/9 - 1
10-87957865-T-C c.647T>C p.V216A Missense 7/9 - 3
10-87957867-G-A c.649G>A p.V217I Missense 7/9 - 6
10-87957867-G-C c.649G>C p.V217L Missense 7/9 - 1
10-87957867-G-T c.649G>T p.V217F Missense 7/9 - 2
10-87957867-GTC-TAA c.649_651delinsTAA p.V217* Nonsense 7/9 - 1
10-87957866-GGTCTGCCAGCTAAAGGT-G c.650_666del p.V217Efs*20 Frameshift 7/9 - 1
10-87957868-T-A c.650T>A p.V217D Missense 7/9 - 8
10-87957868-T-C c.650T>C p.V217A Missense 7/9 - 3
10-87957868-T-G c.650T>G p.V217G Missense 7/9 - 7
10-87957869-C-A c.651C>A p.V217= Synonymous 7/9 - 2
10-87957869-C-G c.651C>G p.V217= Synonymous 7/9 - 2
10-87957869-C-T c.651C>T p.V217= Synonymous 7/9 - 3
10-87957869-TC-T c.651del p.C218Afs*3 Frameshift 7/9 - 2
10-87957870-CT-C c.652del p.C218Afs*3 Frameshift 7/9 - 1
10-87957870-T-C c.652T>C p.C218R Missense 7/9 - 4
10-87957870-T-G c.652T>G p.C218G Missense 7/9 - 2
10-87957870-TG-GC c.652_653delinsGC p.C218A Missense 7/9 - 1
10-87957871-G-A c.653G>A p.C218Y Missense 7/9 - 4
10-87957871-G-T c.653G>T p.C218F Missense 7/9 - 4
10-87957872-C-A c.654C>A p.C218* Nonsense 7/9 - 10
10-87957872-C-G c.654C>G p.C218W Missense 7/9 - 1
10-87957872-C-T c.654C>T p.C218= Synonymous 7/9 - 4
10-87957873-CA-GC c.655_656delinsGC p.Q219A Missense 7/9 - 1
10-87957873-C-T c.655C>T p.Q219* Nonsense 7/9 - 29
10-87957874-A-G c.656A>G p.Q219R Missense 7/9 - 1
10-87957874-A-AG c.657dup p.L220Afs*23 Frameshift 7/9 - 1
10-87957875-G-A c.657G>A p.Q219= Synonymous 7/9 - 1
10-87957875-G-C c.657G>C p.Q219H Missense 7/9 - 1
10-87957875-G-T c.657G>T p.Q219H Missense 7/9 - 3
10-87957876-C-G c.658C>G p.L220V Missense 7/9 - 3
10-87957877-CTAAAG-C c.659_663del p.L220Rfs*21 Frameshift 7/9 - 2
10-87957877-CT-C c.659del p.L220Qfs*3 Frameshift 7/9 - 2
10-87957877-T-A c.659T>A p.L220Q Missense 7/9 - 1
10-87957877-T-C c.659T>C p.L220P Missense 7/9 - 4
10-87957876-C-T c.658C>T p.L220= Synonymous 7/9 - 1
10-87957878-A-C c.660A>C p.L220= Synonymous 7/9 - 1
10-87957878-A-G c.660A>G p.L220= Synonymous 7/9 - 1
10-87957878-A-T c.660A>T p.L220= Synonymous 7/9 - 1
10-87957879-AAAGGTGAAGATATATTCCTCCAATTCAGGACCCACACGACGG-A c.661_702del p.K221_R234del InFrameDeletion 7/9 - 1
10-87957879-AA-GC c.661_662delinsGC p.K221A Missense 7/9 - 2
10-87957879-A-G c.661A>G p.K221E Missense 7/9 - 1
10-87957879-A-T c.661A>T p.K221* Nonsense 7/9 - 7
10-87957877-TA-T c.662del p.K221Rfs*2 Frameshift 7/9 - 1
10-87957880-A-G c.662A>G p.K221R Missense 7/9 - 4
10-87957880-A-T c.662A>T p.K221M Missense 7/9 - 1
10-87957881-G-A c.663G>A p.K221= Synonymous 7/9 - 1
10-87957881-G-C c.663G>C p.K221N Missense 7/9 - 1
10-87957881-G-T c.663G>T p.K221N Missense 7/9 - 1
10-87957882-G-A c.664G>A p.V222M Missense 7/9 - 5
10-87957882-G-T c.664G>T p.V222L Missense 7/9 - 1
10-87957882-G-GT c.665dup p.K223Efs*20 Frameshift 7/9 - 1
10-87957883-T-C c.665T>C p.V222A Missense 7/9 - 5
10-87957882-GTGAAGA-G c.666_671del p.K223_I224del InFrameDeletion 7/9 - 1
10-87957882-GTGAAGATATAT-G c.666_676del p.K223Lfs*16 Frameshift 7/9 - 1
10-87957882-GTGAAGATATATTCC-G c.666_679del p.K223Qfs*15 Frameshift 7/9 - 1
10-87957884-G-A c.666G>A p.V222= Synonymous 7/9 - 1
10-87957884-G-C c.666G>C p.V222= Synonymous 7/9 - 1
10-87957884-G-GT c.666_667insT p.K223* Nonsense 7/9 - 3
10-87957884-G-T c.666G>T p.V222= Synonymous 7/9 - 1
10-87957885-A-G c.667A>G p.K223E Missense 7/9 - 2
10-87957885-A-T c.667A>T p.K223* Nonsense 7/9 - 6
10-87957886-A-G c.668A>G p.K223R Missense 7/9 - 5
10-87957886-A-T c.668A>T p.K223M Missense 7/9 - 1
10-87957887-G-A c.669G>A p.K223= Synonymous 7/9 - 3
10-87957887-G-C c.669G>C p.K223N Missense 7/9 - 1
10-87957888-A-C c.670A>C p.I224L Missense 7/9 - 1
10-87957888-A-G c.670A>G p.I224V Missense 7/9 - 1
10-87957889-T-A c.671T>A p.I224K Missense 7/9 - 2
10-87957889-T-C c.671T>C p.I224T Missense 7/9 - 1
10-87957889-T-G c.671T>G p.I224R Missense 7/9 - 1
10-87957889-T-TA c.672dup p.Y225Ifs*18 Frameshift 7/9 - 5
10-87957890-A-C c.672A>C p.I224= Synonymous 7/9 - 1
10-87957890-A-G c.672A>G p.I224M Missense 7/9 - 5
10-87957890-A-T c.672A>T p.I224= Synonymous 7/9 - 1
10-87957890-TA-T c.672del p.Y225Ifs*31 Frameshift 7/9 - 2
10-87957891-T-C c.673T>C p.Y225H Missense 7/9 - 5
10-87957887-GAT-G c.674_675del p.Y225Ffs*17 Frameshift 7/9 - 1
10-87957892-A-G c.674A>G p.Y225C Missense 7/9 - 5
10-87957893-T-A c.675T>A p.Y225* Nonsense 7/9 - 8
10-87957893-T-C c.675T>C p.Y225= Synonymous 7/9 - 2
10-87957893-T-G c.675T>G p.Y225* Nonsense 7/9 - 13
10-87957894-T-C c.676T>C p.S226P Missense 7/9 - 2
10-87957894-TC-GA c.676_677inv p.S226D Missense 7/9 - 1
10-87957894-T-G c.676T>G p.S226A Missense 7/9 - 3
10-87957894-TTCCTCCAATTCAGGACCCACAC-T c.676_697del p.S226Dfs*23 Frameshift 7/9 - 1
10-87957895-C-T c.677C>T p.S226F Missense 7/9 - 8
10-87957894-TC-T c.678del p.S227Pfs*29 Frameshift 7/9 - 5
10-87957896-C-A c.678C>A p.S226= Synonymous 7/9 - 3
10-87957896-C-G c.678C>G p.S226= Synonymous 7/9 - 3
10-87957896-C-T c.678C>T p.S226= Synonymous 7/9 - 3
10-87957893-TTCC-T c.679_681del p.S227del InFrameDeletion 7/9 - 1
10-87957897-T-C c.679T>C p.S227P Missense 7/9 - 5
10-87957897-T-G c.679T>G p.S227A Missense 7/9 - 1
10-87957898-C-A c.680C>A p.S227Y Missense 7/9 - 2
10-87957898-C-T c.680C>T p.S227F Missense 7/9 - 12
10-87957899-C-A c.681C>A p.S227= Synonymous 7/9 - 2
10-87957899-C-G c.681C>G p.S227= Synonymous 7/9 - 2
10-87957899-C-T c.681C>T p.S227= Synonymous 7/9 - 2
10-87957900-A-G c.682A>G p.N228D Missense 7/9 - 1
10-87957900-CAATT-C c.682_685del p.N228Qfs*27 Frameshift 7/9 - 1
10-87957899-C-CA c.683dup p.N228Kfs*15 Frameshift 7/9 - 1
10-87957901-A-G c.683A>G p.N228S Missense 7/9 - 4
10-87957902-T-C c.684T>C p.N228= Synonymous 7/9 - 2
10-87957903-T-A c.685T>A p.S229T Missense 7/9 - 4
10-87957903-T-C c.685T>C p.S229P Missense 7/9 - 2
10-87957903-TCA-GAC c.685_687delinsGAC p.S229D Missense 7/9 - 1
10-87957903-T-G c.685T>G p.S229A Missense 7/9 - 4
10-87957903-TTCAGGA-T c.685_690del p.S229_G230del InFrameDeletion 7/9 - 1
10-87957904-C-A c.686C>A p.S229* Nonsense 7/9 - 17
10-87957904-CA-GT c.686_687delinsGT p.S229C Missense 7/9 - 2
10-87957904-C-G c.686C>G p.S229* Nonsense 7/9 - 27
10-87957904-C-T c.686C>T p.S229L Missense 7/9 - 4
10-87957905-A-C c.687A>C p.S229= Synonymous 7/9 - 2
10-87957905-A-G c.687A>G p.S229= Synonymous 7/9 - 3
10-87957905-A-T c.687A>T p.S229= Synonymous 7/9 - 2
10-87957906-AGG-A c.688_689del p.G230Tfs*12 Frameshift 7/9 - 1
10-87957906-G-A c.688G>A p.G230R Missense 7/9 - 6
10-87957906-G-C c.688G>C p.G230R Missense 7/9 - 3
10-87957906-G-T c.688G>T p.G230* Nonsense 7/9 - 7
10-87957907-G-A c.689G>A p.G230E Missense 7/9 - 8
10-87957907-G-C c.689G>C p.G230A Missense 7/9 - 4
10-87957907-G-T c.689G>T p.G230V Missense 7/9 - 2
10-87957907-G-GA c.690dup p.P231Tfs*12 Frameshift 7/9 - 1
10-87957908-A-C c.690A>C p.G230= Synonymous 7/9 - 1
10-87957908-A-G c.690A>G p.G230= Synonymous 7/9 - 1
10-87957908-A-T c.690A>T p.G230= Synonymous 7/9 - 1
10-87957908-GACCCA-G c.690_694del p.P231Tfs*10 Frameshift 7/9 - 1
10-87957909-CC-GA c.691_692delinsGA p.P231D Missense 7/9 - 1
10-87957909-C-T c.691C>T p.P231S Missense 7/9 - 4
10-87957910-C-T c.692C>T p.P231L Missense 7/9 - 2
10-87957908-A-AC c.693dup p.T232Hfs*11 Frameshift 7/9 - 1
10-87957908-AC-A c.693del p.T232Hfs*24 Frameshift 7/9 - 2
10-87957909-CCCACA-C c.693_697del p.R233Gfs*8 Frameshift 7/9 - 1
10-87957911-C-A c.693C>A p.P231= Synonymous 7/9 - 3
10-87957911-C-G c.693C>G p.P231= Synonymous 7/9 - 3
10-87957911-C-T c.693C>T p.P231= Synonymous 7/9 - 3
10-87957912-A-C c.694A>C p.T232P Missense 7/9 - 3
10-87957912-ACA-GAC c.694_696delinsGAC p.T232D Missense 7/9 - 1
10-87957912-A-G c.694A>G p.T232A Missense 7/9 - 9
10-87957912-CACACGA-C c.694_699del p.T232_R233del InFrameDeletion 7/9 - 1
10-87957913-C-A c.695C>A p.T232K Missense 7/9 - 1
10-87957913-CA-AC c.695_696delinsAC p.T232N Missense 7/9 - 1
10-87957913-C-T c.695C>T p.T232I Missense 7/9 - 2
10-87957913-C-CA c.696dup p.R233Tfs*10 Frameshift 7/9 - 9
10-87957914-A-AAGC c.696_697insAGC p.T232_R233insS InFrameInsertion 7/9 - 1
10-87957914-A-AATC c.696_697insATC p.T232_R233insI InFrameInsertion 7/9 - 1
10-87957914-A-AG c.696_697insG p.R233Afs*10 Frameshift 7/9 - 4
10-87957914-A-AGG c.696_697insGG p.R233Gfs*24 Frameshift 7/9 - 1
10-87957914-A-AT c.696_697insT p.R233Sfs*10 Frameshift 7/9 - 1
10-87957914-A-ATAGG c.696_697insTAGG p.R233* Nonsense 7/9 - 1
10-87957914-A-C c.696A>C p.T232= Synonymous 7/9 - 1
10-87957914-A-G c.696A>G p.T232= Synonymous 7/9 - 3
10-87957914-A-T c.696A>T p.T232= Synonymous 7/9 - 1
10-87957914-CA-C c.696del p.R233Dfs*23 Frameshift 7/9 - 2
10-87957914-CACGA-C c.696_699del p.R233Gfs*22 Frameshift 7/9 - 1
10-87957914-A-ACCGCCGGGGCGCACTTC c.697_698insCGCCGGGGCGCACTTCC p.R233Pfs*29 Frameshift 7/9 - 1
10-87957915-AC-A c.697del p.R233Dfs*23 Frameshift 7/9 - 6
10-87957915-ACG-A c.697_698del p.R233Tfs*9 Frameshift 7/9 - 1
10-87957915-ACGAC-A c.697_700del p.R233Gfs*22 Frameshift 7/9 - 1
10-87957915-C-A c.697C>A p.R233= Synonymous 7/9 - 7
10-87957915-C-CA c.697_698insA p.R233Qfs*10 Frameshift 7/9 - 4
10-87957915-C-CCGTGGAGGCT c.697_698insCGTGGAGGCT p.R233Pfs*13 Frameshift 7/9 - 1
10-87957915-C-CTCCCGTCT c.697_698insTCCCGTCT p.R233Lfs*26 Frameshift 7/9 - 3
10-87957915-C-G c.697C>G p.R233G Missense 7/9 - 1
10-87957915-CG-AC c.697_698delinsAC p.R233T Missense 7/9 - 2
10-87957915-CG-GC c.697_698delinsGC p.R233A Missense 7/9 - 1
10-87957915-C-T c.697C>T p.R233* Nonsense 7/9 - 243
10-87957917-A-C c.699A>C p.R233= Synonymous 7/9 - 2
10-87957917-A-T c.699A>T p.R233= Synonymous 7/9 - 2
10-87957916-CGA-C c.698_699del p.R233Pfs*9 Frameshift 7/9 - 1
10-87957916-G-A c.698G>A p.R233Q Missense 7/9 - 22
10-87957916-GA-AT c.698_699delinsAT p.R233H Missense 7/9 - 1
10-87957916-GACG-AA c.698_701delinsAA p.R233Qfs*9 Frameshift 7/9 - 1
10-87957916-G-C c.698G>C p.R233P Missense 7/9 - 1
10-87957916-G-GGACCCCCACGGACCCCC c.698_699insGACCCCCACGGACCCCC p.R234Tfs*28 Frameshift 7/9 - 1
10-87957916-G-GGGCCC c.698_699insGGCCC p.R234Afs*24 Frameshift 7/9 - 1
10-87957916-G-T c.698G>T p.R233L Missense 7/9 - 1
10-87957915-C-CGAAGGTAGT c.699_700insAGGTAGTGA p.R234_E235ins* Nonsense 7/9 - 1
10-87957917-A-AAGTAACCG c.699_700insAGTAACCG p.R234Sfs*25 Frameshift 7/9 - 1
10-87957917-A-AGTTGTACCCT c.699_700insGTTGTACCCT p.R234Vfs*12 Frameshift 7/9 - 1
10-87957917-A-ATATCTAGGTAT c.699_700insTATCTAGGTAT p.R234Yfs*26 Frameshift 7/9 - 1
10-87957917-A-ATG c.699_700insTG p.R234Cfs*23 Frameshift 7/9 - 1
10-87957917-A-G c.699A>G p.R233= Synonymous 7/9 - 3
10-87957914-A-ACGACCTGGAGC c.700_701insCTGGAGCCGAC p.R234Pfs*26 Frameshift 7/9 - 1
10-87957916-G-GACCT c.700_701insCTAC p.R234Pfs*10 Frameshift 7/9 - 1
10-87957917-A-AC c.700dup p.R234Pfs*9 Frameshift 7/9 - 1
10-87957917-A-ACCCC c.700_701insCCCC p.R234Pfs*10 Frameshift 7/9 - 1
10-87957918-AC-A c.700del p.R234Gfs*22 Frameshift 7/9 - 2
10-87957918-C-A c.700C>A p.R234= Synonymous 7/9 - 2
10-87957918-C-G c.700C>G p.R234G Missense 7/9 - 4
10-87957918-CG-AC c.700_701delinsAC p.R234T Missense 7/9 - 1
10-87957918-CGG-AAC c.700_702delinsAAC p.R234N Missense 7/9 - 1
10-87957918-CGG-ATC c.700_702delinsATC p.R234I Missense 7/9 - 1
10-87957918-CGG-TGT c.700_702delinsTGT p.R234C Missense 7/9 - 4
10-87957918-C-T c.700C>T p.R234W Missense 7/9 - 25
10-87957920-G-A c.702G>A p.R234= Synonymous 7/9 - 2
10-87957920-G-C c.702G>C p.R234= Synonymous 7/9 - 2
10-87957920-G-T c.702G>T p.R234= Synonymous 7/9 - 2
10-87957915-CGACGGGAA-C c.701_708del p.R234Qfs*6 Frameshift 7/9 - 4
10-87957918-C-CGT c.701_702insTG p.E235Gfs*22 Frameshift 7/9 - 1
10-87957919-G-A c.701G>A p.R234Q Missense 7/9 - 31
10-87957919-G-C c.701G>C p.R234P Missense 7/9 - 2
10-87957919-GG-AT c.701_702delinsAT p.R234H Missense 7/9 - 5
10-87957919-G-T c.701G>T p.R234L Missense 7/9 - 8
10-87957919-G-GGTAGGT c.702_703insTAGGTG p.R234_E235ins* Nonsense 7/9 - 1
10-87957920-G-GC c.702_703insC p.E235Rfs*8 Frameshift 7/9 - 1
10-87957920-G-GT c.702_703insT p.E235* Nonsense 7/9 - 2
10-87957918-C-CG c.703dup p.E235Gfs*8 Frameshift 7/9 - 3
10-87957918-CG-C c.703del p.E235Kfs*21 Frameshift 7/9 - 4
10-87957921-G-A c.703G>A p.E235K Missense 7/9 - 4
10-87957921-G-AAGAACCATT c.703delinsAAGAACCATT p.E235delinsKNH* MultiAAMissense 7/9 - 1
10-87957921-G-C c.703G>C p.E235Q Missense 7/9 - 3
10-87957921-GGA-G c.703_704del p.E235Rfs*7 Frameshift 7/9 - 2
10-87957921-G-T c.703G>T p.E235* Nonsense 7/9 - 16
10-87957922-A-C c.704A>C p.E235A Missense 7/9 - 1
10-87957922-A-G c.704A>G p.E235G Missense 7/9 - 2
10-87957921-GA-G c.705del p.D236Tfs*20 Frameshift 7/9 - 1
10-87957923-A-ACCCCCGGCCC c.705_706insCCCCCGGCCC p.D236Pfs*10 Frameshift 7/9 - 1
10-87957923-A-C c.705A>C p.E235D Missense 7/9 - 1
10-87957923-A-G c.705A>G p.E235= Synonymous 7/9 - 2
10-87957923-A-T c.705A>T p.E235D Missense 7/9 - 1
10-87957923-A-AG c.706dup p.D236Gfs*7 Frameshift 7/9 - 2
10-87957924-G-A c.706G>A p.D236N Missense 7/9 - 7
10-87957924-G-C c.706G>C p.D236H Missense 7/9 - 2
10-87957925-A-G c.707A>G p.D236G Missense 7/9 - 2
10-87957925-GACAAGTTCATGTAC-G c.707_720del p.D236Vfs*2 Frameshift 7/9 - 1
10-87957924-GAC-G c.708_709del p.D236Efs*6 Frameshift 7/9 - 1
10-87957926-C-A c.708C>A p.D236E Missense 7/9 - 1
10-87957926-C-CG c.708_709insG p.K237Efs*6 Frameshift 7/9 - 1
10-87957926-C-CT c.708_709insT p.K237* Nonsense 7/9 - 1
10-87957926-C-T c.708C>T p.D236= Synonymous 7/9 - 1
10-87957927-AA-GC c.709_710delinsGC p.K237A Missense 7/9 - 2
10-87957927-A-C c.709A>C p.K237Q Missense 7/9 - 1
10-87957927-A-G c.709A>G p.K237E Missense 7/9 - 3
10-87957927-A-T c.709A>T p.K237* Nonsense 7/9 - 2
10-87957927-CAAGTTCA-C c.709_715del p.K237Cfs*17 Frameshift 7/9 - 1
10-87957926-C-CA c.710dup p.F238Vfs*5 Frameshift 7/9 - 1
10-87957928-A-G c.710A>G p.K237R Missense 7/9 - 3
10-87957928-A-AG c.711dup p.F238Vfs*5 Frameshift 7/9 - 1
10-87957929-G-A c.711G>A p.K237= Synonymous 7/9 - 4
10-87957929-G-C c.711G>C p.K237N Missense 7/9 - 1
10-87957929-G-GAA c.711_712insAA p.F238Nfs*19 Frameshift 7/9 - 1
10-87957929-G-T c.711G>T p.K237N Missense 7/9 - 1
10-87957930-T-C c.712T>C p.F238L Missense 7/9 - 9
10-87957932-C-A c.714C>A p.F238L Missense 7/9 - 7
10-87957932-C-G c.714C>G p.F238L Missense 7/9 - 6
10-87957929-GT-G c.713del p.F238Sfs*18 Frameshift 7/9 - 4
10-87957931-T-C c.713T>C p.F238S Missense 7/9 - 3
10-87957931-T-G c.713T>G p.F238C Missense 7/9 - 1
10-87957932-C-T c.714C>T p.F238= Synonymous 7/9 - 1
10-87957933-A-C c.715A>C p.M239L Missense 7/9 - 1
10-87957933-A-G c.715A>G p.M239V Missense 7/9 - 10
10-87957933-CA-C c.715del p.M239Cfs*17 Frameshift 7/9 - 1
10-87957934-T-A c.716T>A p.M239K Missense 7/9 - 1
10-87957934-T-C c.716T>C p.M239T Missense 7/9 - 5
10-87957934-T-G c.716T>G p.M239R Missense 7/9 - 12
10-87957935-G-A c.717G>A p.M239I Missense 7/9 - 2
10-87957935-G-C c.717G>C p.M239I Missense 7/9 - 1
10-87957935-G-T c.717G>T p.M239I Missense 7/9 - 2
10-87957935-TG-T c.717del p.M239Ifs*17 Frameshift 7/9 - 1
10-87957936-TAC-GAG c.718_720delinsGAG p.Y240E Missense 7/9 - 1
10-87957936-TA-GC c.718_719delinsGC p.Y240A Missense 7/9 - 1
10-87957936-T-C c.718T>C p.Y240H Missense 7/9 - 2
10-87957935-GTAC-G c.719_721del p.Y240del InFrameDeletion 7/9 - 1
10-87957937-A-C c.719A>C p.Y240S Missense 7/9 - 1
10-87957937-A-G c.719A>G p.Y240C Missense 7/9 - 1
10-87957937-A-T c.719A>T p.Y240F Missense 7/9 - 9
10-87957938-C-A c.720C>A p.Y240* Nonsense 7/9 - 14
10-87957938-C-CCA c.720_721insCA p.F241Hfs*16 Frameshift 7/9 - 1
10-87957938-C-G c.720C>G p.Y240* Nonsense 7/9 - 21
10-87957938-C-T c.720C>T p.Y240= Synonymous 7/9 - 10
10-87957939-T-C c.721T>C p.F241L Missense 7/9 - 19
10-87957939-T-G c.721T>G p.F241V Missense 7/9 - 1
10-87957941-T-A c.723T>A p.F241L Missense 7/9 - 14
10-87957941-T-G c.723T>G p.F241L Missense 7/9 - 20
10-87957938-CTT-C c.722_723del p.F241* Frameshift 7/9 - 2
10-87957940-T-C c.722T>C p.F241S Missense 7/9 - 34
10-87957940-T-G c.722T>G p.F241C Missense 7/9 - 1
10-87957940-T-TGGGTAGTA c.722_723insGGGTAGTA p.F241Lfs*18 Frameshift 7/9 - 1
10-87957938-C-CT c.723dup p.E242* Nonsense 7/9 - 11
10-87957938-CT-C c.723del p.F241Lfs*15 Frameshift 7/9 - 5
10-87957940-T-TTA c.723_724insAT p.E242Mfs*15 Frameshift 7/9 - 1
10-87957941-T-C c.723T>C p.F241= Synonymous 7/9 - 5
10-87957941-T-TACCACCCCATAAC c.723_724insACCACCCCATAAC p.E242Tfs*4 Frameshift 7/9 - 1
10-87957939-TTTGAGTTCCCTCAGCCG-T c.724_740del p.E242Tfs*5 Frameshift 7/9 - 1
10-87957941-T-TG c.724dup p.E242Gfs*11 Frameshift 7/9 - 1
10-87957941-T-TGGAG c.724_725insGAGG p.E242Gfs*12 Frameshift 7/9 - 1
10-87957941-T-TGTCCTTA c.724_725insTCCTTAG p.E242Vfs*13 Frameshift 7/9 - 1
10-87957942-G-A c.724G>A p.E242K Missense 7/9 - 11
10-87957942-G-C c.724G>C p.E242Q Missense 7/9 - 1
10-87957942-G-GTA c.724_725insTA p.E242Vfs*15 Frameshift 7/9 - 1
10-87957942-G-T c.724G>T p.E242* Nonsense 7/9 - 21
10-87957942-TG-T c.724del p.E242Sfs*14 Frameshift 7/9 - 4
10-87957941-TGAGTTCCCTCAGCC-T c.725_738del p.E242Vfs*6 Frameshift 7/9 - 2
10-87957942-G-GAC c.725_726insCA p.E242Dfs*15 Frameshift 7/9 - 3
10-87957943-A-G c.725A>G p.E242G Missense 7/9 - 4
10-87957943-A-T c.725A>T p.E242V Missense 7/9 - 1
10-87957944-AGT-A c.726_727del p.E242Dfs*10 Frameshift 7/9 - 1
10-87957944-AGTT-A c.726_728del p.E242_F243delinsD MultiAAMissense 7/9 - 3
10-87957944-G-A c.726G>A p.E242= Synonymous 7/9 - 3
10-87957944-G-C c.726G>C p.E242D Missense 7/9 - 2
10-87957944-G-T c.726G>T p.E242D Missense 7/9 - 3
10-87957945-GTT-G c.727_728del p.F243Pfs*9 Frameshift 7/9 - 1
10-87957945-T-C c.727T>C p.F243L Missense 7/9 - 7
10-87957945-T-G c.727T>G p.F243V Missense 7/9 - 1
10-87957945-TT-CC c.727_728delinsCC p.F243P Missense 7/9 - 1
10-87957947-C-A c.729C>A p.F243L Missense 7/9 - 7
10-87957947-C-G c.729C>G p.F243L Missense 7/9 - 6
10-87957944-GT-G c.728del p.F243Sfs*13 Frameshift 7/9 - 2
10-87957946-T-A c.728T>A p.F243Y Missense 7/9 - 1
10-87957946-T-C c.728T>C p.F243S Missense 7/9 - 6
10-87957946-TC-AA c.728_729delinsAA p.F243* Nonsense 7/9 - 1
10-87957946-T-G c.728T>G p.F243C Missense 7/9 - 1
10-87957946-T-TCACTC c.729_730insACTCC p.P244Tfs*14 Frameshift 7/9 - 1
10-87957947-CCCTCAG-TCCTTCCC c.729_735delinsTCCTTCCC p.Q245Sfs*8 Frameshift 7/9 - 1
10-87957947-C-T c.729C>T p.F243= Synonymous 7/9 - 3
10-87957948-C-A c.730C>A p.P244T Missense 7/9 - 2
10-87957948-C-G c.730C>G p.P244A Missense 7/9 - 1
10-87957948-C-T c.730C>T p.P244S Missense 7/9 - 10
10-87957946-TCCCTCAG-T c.731_737del p.P244Rfs*10 Frameshift 7/9 - 1
10-87957946-TC-T c.731del p.P244Lfs*12 Frameshift 7/9 - 6
10-87957949-C-A c.731C>A p.P244H Missense 7/9 - 2
10-87957949-CCTCAGCCGTTACCTGTG-C c.731_747del p.P244Lfs*3 Frameshift 7/9 - 3
10-87957949-C-G c.731C>G p.P244R Missense 7/9 - 1
10-87957949-C-T c.731C>T p.P244L Missense 7/9 - 2
10-87957947-CCCTCAG-C c.732_737del p.Q245_P246del InFrameDeletion 7/9 - 1
10-87957950-T-A c.732T>A p.P244= Synonymous 7/9 - 1
10-87957950-T-C c.732T>C p.P244= Synonymous 7/9 - 2
10-87957950-T-G c.732T>G p.P244= Synonymous 7/9 - 1
10-87957951-CA-AC c.733_734delinsAC p.Q245T Missense 7/9 - 1
10-87957951-CAG-TAT c.733_735delinsTAT p.Q245Y Missense 7/9 - 1
10-87957951-C-G c.733C>G p.Q245E Missense 7/9 - 2
10-87957951-C-T c.733C>T p.Q245* Nonsense 7/9 - 81
10-87957950-TCAGC-T c.734_737del p.Q245Rfs*10 Frameshift 7/9 - 3
10-87957952-A-C c.734A>C p.Q245P Missense 7/9 - 4
10-87957952-A-G c.734A>G p.Q245R Missense 7/9 - 2
10-87957952-CA-C c.734del p.Q245Rfs*11 Frameshift 7/9 - 1
10-87957951-CAGCCGTT-C c.735_741del p.Q245Hfs*9 Frameshift 7/9 - 2
10-87957953-AGCCGT-A c.735_739del p.Q245Hfs*6 Frameshift 7/9 - 1
10-87957953-G-GATCCCT c.735_736insATCCCT p.Q245_P246insIP InFrameInsertion 7/9 - 1
10-87957953-G-T c.735G>T p.Q245H Missense 7/9 - 2
10-87957952-AGCC-A c.736_738del p.P246del InFrameDeletion 7/9 - 1
10-87957953-G-GCGGGGGGTTTCTATGA c.736_737insGGGGGGTTTCTATGAC p.P246Rfs*12 Frameshift 7/9 - 2
10-87957953-G-GCTT c.736_737insTTC p.Q245_P246insL InFrameInsertion 7/9 - 1
10-87957953-G-GCTTTA c.736_737insTTTAC p.P246Lfs*12 Frameshift 7/9 - 1
10-87957954-C-A c.736C>A p.P246T Missense 7/9 - 1
10-87957954-C-CAA c.736_737insAA p.P246Qfs*11 Frameshift 7/9 - 1
10-87957954-C-CAG c.736_737insAG p.P246Qfs*11 Frameshift 7/9 - 1
10-87957954-CCG-AGCCCTCTTGTACCTGCA c.736_738delinsAGCCCTCTTGTACCTGCA p.P246delinsSPLVPA MultiAAMissense 7/9 - 1
10-87957954-C-G c.736C>G p.P246A Missense 7/9 - 1
10-87957954-C-T c.736C>T p.P246S Missense 7/9 - 12
10-87957954-GCCGT-G c.736_739del p.P246Yfs*9 Frameshift 7/9 - 1
10-87957955-CG-TTCCTCTTAGGAGC c.737_738delinsTTCCTCTTAGGAGC p.P246delinsLPLRS MultiAAMissense 7/9 - 1
10-87957953-GCCGTTAC-G c.737_743del p.P246Lfs*8 Frameshift 7/9 - 1
10-87957953-GC-G c.737del p.P246Rfs*10 Frameshift 7/9 - 2
10-87957955-C-A c.737C>A p.P246Q Missense 7/9 - 2
10-87957955-C-CAAG c.737_738insAAG p.P246_L247insR InFrameInsertion 7/9 - 1
10-87957955-C-CCTGAAGTTCATGTACTTTGAGTTCCCTCAGCCCTGGGTT c.737_738insCTGAAGTTCATGTACTTTGAGTTCCCTCAGCCCTGGGTT p.P246_L247ins* Nonsense 7/9 - 2
10-87957955-C-G c.737C>G p.P246R Missense 7/9 - 6
10-87957955-C-T c.737C>T p.P246L Missense 7/9 - 103
10-87957953-GCCGTTA-G c.738_743del p.L247_P248del InFrameDeletion 7/9 - 4
10-87957955-C-CGGGGGCG c.738_739insGGGGCGG p.L247Gfs*8 Frameshift 7/9 - 3
10-87957956-CG-C c.738del p.L247Yfs*9 Frameshift 7/9 - 3
10-87957956-CGTT-C c.738_740del p.L247del InFrameDeletion 7/9 - 2
10-87957956-G-A c.738G>A p.P246= Synonymous 7/9 - 13
10-87957956-G-C c.738G>C p.P246= Synonymous 7/9 - 6
10-87957956-G-GGGTCCT c.738_739insGGTCCT p.P246_L247insGP InFrameInsertion 7/9 - 2
10-87957956-G-GGTAA c.738_739insGTAA p.L247Vfs*7 Frameshift 7/9 - 1
10-87957956-G-T c.738G>T p.P246= Synonymous 7/9 - 4
10-87957955-C-CGTAA c.739_740insAAGT p.L247* Nonsense 7/9 - 2
10-87957956-G-GTA c.739_740insAT p.L247Yfs*10 Frameshift 7/9 - 2
10-87957957-GTTACCT-G c.739_744del p.L247_P248del InFrameDeletion 7/9 - 1
10-87957957-GTTA-G c.739_741del p.L247del InFrameDeletion 7/9 - 3
10-87957957-T-A c.739T>A p.L247I Missense 7/9 - 1
10-87957957-T-C c.739T>C p.L247= Synonymous 7/9 - 1
10-87957957-TTACC-GACGAGCT c.739_743delinsGACGAGCT p.L247_P248delinsDEL MultiAAMissense 7/9 - 1
10-87957957-TT-GA c.739_740delinsGA p.L247E Missense 7/9 - 1
10-87957959-A-G c.741A>G p.L247= Synonymous 7/9 - 2
10-87957956-G-GT c.740dup p.L247Ffs*6 Frameshift 7/9 - 5
10-87957956-GT-G c.740del p.L247Yfs*9 Frameshift 7/9 - 2
10-87957958-T-A c.740T>A p.L247* Nonsense 7/9 - 7
10-87957958-T-C c.740T>C p.L247S Missense 7/9 - 8
10-87957958-T-G c.740T>G p.L247* Nonsense 7/9 - 7
10-87957958-T-TA c.741dup p.P248Tfs*5 Frameshift 7/9 - 56
10-87957959-A-C c.741A>C p.L247F Missense 7/9 - 5
10-87957959-A-T c.741A>T p.L247F Missense 7/9 - 5
10-87957960-ACCT-A c.742_744del p.P248del InFrameDeletion 7/9 - 1
10-87957960-C-A c.742C>A p.P248T Missense 7/9 - 1
10-87957960-C-CA c.742_743insA p.P248Hfs*5 Frameshift 7/9 - 13
10-87957960-CC-GACGAGCT c.742_743delinsGACGAGCT p.P248delinsDEL MultiAAMissense 7/9 - 1
10-87957960-C-G c.742C>G p.P248A Missense 7/9 - 1
10-87957960-C-T c.742C>T p.P248S Missense 7/9 - 8
10-87957959-A-AC c.743dup p.V249Cfs*4 Frameshift 7/9 - 8
10-87957959-AC-A c.743del p.P248Lfs*8 Frameshift 7/9 - 1
10-87957961-C-A c.743C>A p.P248H Missense 7/9 - 6
10-87957961-CCT-C c.743_744del p.P248Rfs*4 Frameshift 7/9 - 1
10-87957961-CCTGTGTGT-C c.743_750del p.P248Rfs*2 Frameshift 7/9 - 1
10-87957961-C-G c.743C>G p.P248R Missense 7/9 - 8
10-87957961-C-T c.743C>T p.P248L Missense 7/9 - 3
10-87957962-T-TTG c.744_745insTG p.V249Wfs*8 Frameshift 7/9 - 1
10-87957963-G-A c.745G>A p.V249M Missense 7/9 - 7
10-87957963-G-C c.745G>C p.V249L Missense 7/9 - 2
10-87957963-G-GAA c.745_746insAA p.V249Efs*8 Frameshift 7/9 - 1
10-87957963-G-T c.745G>T p.V249L Missense 7/9 - 2
10-87957963-GT-TA c.745_746delinsTA p.V249* Nonsense 7/9 - 2
10-87957964-T-A c.746T>A p.V249E Missense 7/9 - 3
10-87957964-T-C c.746T>C p.V249A Missense 7/9 - 1
10-87957964-T-G c.746T>G p.V249G Missense 7/9 - 1
10-87957965-G-A c.747G>A p.V249= Synonymous 7/9 - 2
10-87957965-G-C c.747G>C p.V249= Synonymous 7/9 - 2
10-87957965-G-T c.747G>T p.V249= Synonymous 7/9 - 1
10-87957961-CTGTG-C c.748_751del p.C250Vfs*5 Frameshift 7/9 - 2
10-87957966-GT-G c.748del p.C250Vfs*6 Frameshift 7/9 - 1
10-87957966-GTGT-G c.748_750del p.C250del InFrameDeletion 7/9 - 1
10-87957966-T-C c.748T>C p.C250R Missense 7/9 - 2
10-87957966-TG-AC c.748_749delinsAC p.C250T Missense 7/9 - 179
10-87957966-TG-GC c.748_749delinsGC p.C250A Missense 7/9 - 3
10-87957966-TG-GT c.748_749delinsGT p.C250V Missense 7/9 - 1
10-87957967-G-A c.749G>A p.C250Y Missense 7/9 - 2
10-87957967-G-T c.749G>T p.C250F Missense 7/9 - 2
10-87957967-TG-T c.749del p.C250Lfs*6 Frameshift 7/9 - 1
10-87957961-CTG-C c.750_751del p.C250Wfs*2 Frameshift 7/9 - 8
10-87957967-G-GT c.750dup p.G251Wfs*2 Frameshift 7/9 - 1
10-87957968-GTGGT-G c.750_753del p.C250Wfs*5 Frameshift 7/9 - 1
10-87957968-T-A c.750T>A p.C250* Nonsense 7/9 - 6
10-87957968-T-C c.750T>C p.C250= Synonymous 7/9 - 1
10-87957968-T-G c.750T>G p.C250W Missense 7/9 - 2
10-87957969-G-A c.751G>A p.G251S Missense 7/9 - 4
10-87957969-GG-CT c.751_752delinsCT p.G251L Missense 7/9 - 1
10-87957969-G-T c.751G>T p.G251C Missense 7/9 - 23
10-87957969-TGG-T c.751_752del p.G251* Frameshift 7/9 - 3
10-87957966-TGTG-T c.752_754del p.G251del InFrameDeletion 7/9 - 1
10-87957970-G-A c.752G>A p.G251D Missense 7/9 - 20
10-87957970-G-C c.752G>C p.G251A Missense 7/9 - 9
10-87957970-G-T c.752G>T p.G251V Missense 7/9 - 32
10-87957970-GT-AG c.752_753delinsAG p.G251E Missense 7/9 - 1
10-87957970-GT-TG c.752_753delinsTG p.G251V Missense 7/9 - 2
10-87957970-G-GT c.753dup p.D252* Nonsense 7/9 - 2
10-87957969-GGTGATATCAAA-G c.754_764del p.D252Rfs*42 Frameshift 7/9 - 1
10-87957972-G-A c.754G>A p.D252N Missense 7/9 - 13
10-87957972-GAT-AAG c.754_756delinsAAG p.D252K Missense 7/9 - 1
10-87957972-G-T c.754G>T p.D252Y Missense 7/9 - 17
10-87957973-A-G c.755A>G p.D252G Missense 7/9 - 39
10-87957973-A-T c.755A>T p.D252V Missense 7/9 - 21
10-87957973-GATATCAAAGTAGAGTTC-G c.755_771del p.D252Vfs*40 Frameshift 7/9 - 1
10-87957971-TGATATCAAAGTA-T c.756_767del p.D252_V255del InFrameDeletion 7/9 - 1
10-87957973-A-AT c.756dup p.I253Yfs*45 Frameshift 7/9 - 3
10-87957974-ATATCAAAGTAGAGTTCTTCC-A c.756_775del p.D252Efs*39 Frameshift 7/9 - 2
10-87957974-T-C c.756T>C p.D252= Synonymous 7/9 - 4
10-87957972-G-GAT c.757_758dup p.K254Sfs*3 Frameshift 7/9 - 1
10-87957974-T-TA c.757dup p.I253Nfs*45 Frameshift 7/9 - 3
10-87957975-A-T c.757A>T p.I253F Missense 7/9 - 1
10-87957975-ATC-TGG c.757_759delinsTGG p.I253W Missense 7/9 - 1
10-87957974-TATCA-T c.758_761del p.I253Kfs*2 Frameshift 7/9 - 1
10-87957974-TATC-T c.758_760del p.I253del InFrameDeletion 7/9 - 1
10-87957976-AT-A c.758del p.I253Tfs*3 Frameshift 7/9 - 2
10-87957976-T-A c.758T>A p.I253N Missense 7/9 - 17
10-87957976-T-C c.758T>C p.I253T Missense 7/9 - 5
10-87957976-T-G c.758T>G p.I253S Missense 7/9 - 2
10-87957977-C-A c.759C>A p.I253= Synonymous 7/9 - 2
10-87957977-C-CT c.759_760insT p.K254* Nonsense 7/9 - 2
10-87957977-C-G c.759C>G p.I253M Missense 7/9 - 2
10-87957977-C-T c.759C>T p.I253= Synonymous 7/9 - 2
10-87957977-TCA-T c.759_760del p.K254Sfs*43 Frameshift 7/9 - 3
10-87957977-TC-T c.759del p.V255* Frameshift 7/9 - 1
10-87957978-AA-GC c.760_761delinsGC p.K254A Missense 7/9 - 1
10-87957978-A-ATG c.760_761insTG p.K254Mfs*3 Frameshift 7/9 - 1
10-87957978-A-G c.760A>G p.K254E Missense 7/9 - 3
10-87957978-A-T c.760A>T p.K254* Nonsense 7/9 - 5
10-87957977-CAAAGT-C c.761_765del p.K254Rfs*42 Frameshift 7/9 - 6
10-87957979-AA-GC c.761_762delinsGC p.K254S Missense 7/9 - 2
10-87957979-A-C c.761A>C p.K254T Missense 7/9 - 8
10-87957979-A-G c.761A>G p.K254R Missense 7/9 - 12
10-87957979-A-T c.761A>T p.K254I Missense 7/9 - 1
10-87957977-C-CA c.762dup p.V255Sfs*43 Frameshift 7/9 - 2
10-87957980-A-G c.762A>G p.K254= Synonymous 7/9 - 1
10-87957980-A-T c.762A>T p.K254N Missense 7/9 - 1
10-87957981-G-A c.763G>A p.V255I Missense 7/9 - 4
10-87957981-G-T c.763G>T p.V255L Missense 7/9 - 1
10-87957981-GTA-ATG c.763_765delinsATG p.V255M Missense 7/9 - 1
10-87957981-GT-AG c.763_764delinsAG p.V255R Missense 7/9 - 1
10-87957981-GT-TA c.763_764delinsTA p.V255* Nonsense 7/9 - 1
10-87957979-AAGT-A c.764_766del p.V255del InFrameDeletion 7/9 - 2
10-87957982-T-A c.764T>A p.V255E Missense 7/9 - 3
10-87957982-T-C c.764T>C p.V255A Missense 7/9 - 11
10-87957982-T-G c.764T>G p.V255G Missense 7/9 - 6
10-87957982-T-TA c.765dup p.E256Rfs*42 Frameshift 7/9 - 1
10-87957983-A-AT c.765_766insT p.E256* Nonsense 7/9 - 3
10-87957984-G-A c.766G>A p.E256K Missense 7/9 - 10
10-87957984-G-C c.766G>C p.E256Q Missense 7/9 - 1
10-87957984-G-T c.766G>T p.E256* Nonsense 7/9 - 17
10-87957982-TAG-T c.767_768del p.E256Vfs*41 Frameshift 7/9 - 3
10-87957985-A-C c.767A>C p.E256A Missense 7/9 - 3
10-87957985-A-G c.767A>G p.E256G Missense 7/9 - 1
10-87957984-GAGTTCTTCCACAA-G c.768_780del p.E256Dfs*6 Frameshift 7/9 - 1
10-87957985-A-AG c.768dup p.F257Vfs*41 Frameshift 7/9 - 5
10-87957986-G-A c.768G>A p.E256= Synonymous 7/9 - 1
10-87957986-G-C c.768G>C p.E256D Missense 7/9 - 1
10-87957987-T-C c.769T>C p.F257L Missense 7/9 - 8
10-87957987-T-TA c.769_770insA p.F257Yfs*41 Frameshift 7/9 - 1
10-87957989-C-A c.771C>A p.F257L Missense 7/9 - 8
10-87957989-C-G c.771C>G p.F257L Missense 7/9 - 8
10-87957988-T-C c.770T>C p.F257S Missense 7/9 - 5
10-87957987-TTC-T c.771_772del p.F258Pfs*39 Frameshift 7/9 - 1
10-87957990-CTT-C c.772_773del p.F258Pfs*39 Frameshift 7/9 - 2
10-87957990-T-C c.772T>C p.F258L Missense 7/9 - 7
10-87957992-C-A c.774C>A p.F258L Missense 7/9 - 8
10-87957992-C-G c.774C>G p.F258L Missense 7/9 - 7
10-87957989-CT-C c.773del p.F258Sfs*8 Frameshift 7/9 - 1
10-87957991-T-A c.773T>A p.F258Y Missense 7/9 - 6
10-87957991-TC-AA c.773_774delinsAA p.F258* Nonsense 7/9 - 3
10-87957991-T-G c.773T>G p.F258C Missense 7/9 - 1
10-87957992-C-T c.774C>T p.F258= Synonymous 7/9 - 1
10-87957991-TC-T c.775del p.H259Tfs*7 Frameshift 7/9 - 1
10-87957991-T-TC c.775dup p.H259Pfs*39 Frameshift 7/9 - 1
10-87957993-CCACAAACAGAACAAGATGCTA-C c.775_795del p.H259_L265del InFrameDeletion 7/9 - 1
10-87957993-C-G c.775C>G p.H259D Missense 7/9 - 1
10-87957992-CCA-C c.777_778del p.H259Qfs*38 Frameshift 7/9 - 1
10-87957995-AC-A c.777del p.H259Qfs*7 Frameshift 7/9 - 7
10-87957995-C-CT c.777_778insT p.K260* Nonsense 7/9 - 2
10-87957996-AAA-GAC c.778_780delinsGAC p.K260D Missense 7/9 - 1
10-87957996-AA-GC c.778_779delinsGC p.K260A Missense 7/9 - 2
10-87957996-A-C c.778A>C p.K260Q Missense 7/9 - 2
10-87957996-A-G c.778A>G p.K260E Missense 7/9 - 2
10-87957996-A-T c.778A>T p.K260* Nonsense 7/9 - 9
10-87957995-CAA-C c.779_780del p.K260Tfs*37 Frameshift 7/9 - 1
10-87957997-A-G c.779A>G p.K260R Missense 7/9 - 5
10-87957995-CA-C c.780del p.K260Nfs*6 Frameshift 7/9 - 1
10-87957998-A-G c.780A>G p.K260= Synonymous 7/9 - 1
10-87957999-C-A c.781C>A p.Q261K Missense 7/9 - 1
10-87957999-C-G c.781C>G p.Q261E Missense 7/9 - 3
10-87957999-C-T c.781C>T p.Q261* Nonsense 7/9 - 19
10-87957999-CAGAACAAGATGCTAAAAAAGGTTTGTACTTTACTTTCATTGGGAG-C c.783_801+26del - SpliceDonorDeletion 7/9 7/8 1
10-87957999-CAG-C c.783_784del p.N262Qfs*35 Frameshift 7/9 - 5
10-87958001-G-A c.783G>A p.Q261= Synonymous 7/9 - 2
10-87958001-G-GT c.783_784insT p.N262* Nonsense 7/9 - 2
10-87958001-G-T c.783G>T p.Q261H Missense 7/9 - 1
10-87958002-A-T c.784A>T p.N262Y Missense 7/9 - 6
10-87958002-GAA-G c.784_785del p.N262Qfs*35 Frameshift 7/9 - 1
10-87958001-GA-G c.785del p.N262Tfs*4 Frameshift 7/9 - 1
10-87958003-A-AT c.785_786insT p.K263Qfs*35 Frameshift 7/9 - 1
10-87958003-A-C c.785A>C p.N262T Missense 7/9 - 2
10-87958003-A-G c.785A>G p.N262S Missense 7/9 - 3
10-87958003-A-T c.785A>T p.N262I Missense 7/9 - 1
10-87958004-C-A c.786C>A p.N262K Missense 7/9 - 1
10-87958004-C-G c.786C>G p.N262K Missense 7/9 - 1
10-87958005-AA-GC c.787_788delinsGC p.K263A Missense 7/9 - 3
10-87958005-A-C c.787A>C p.K263Q Missense 7/9 - 1
10-87958005-A-G c.787A>G p.K263E Missense 7/9 - 2
10-87958005-A-T c.787A>T p.K263* Nonsense 7/9 - 16
10-87958006-A-G c.788A>G p.K263R Missense 7/9 - 5
10-87958007-G-A c.789G>A p.K263= Synonymous 7/9 - 2
10-87958007-G-C c.789G>C p.K263N Missense 7/9 - 1
10-87958008-A-G c.790A>G p.M264V Missense 7/9 - 1
10-87958008-AT-GC c.790_791delinsGC p.M264A Missense 7/9 - 1
10-87958009-T-C c.791T>C p.M264T Missense 7/9 - 1
10-87958009-T-G c.791T>G p.M264R Missense 7/9 - 8
10-87958010-G-A c.792G>A p.M264I Missense 7/9 - 5
10-87958010-G-C c.792G>C p.M264I Missense 7/9 - 2
10-87958010-G-T c.792G>T p.M264I Missense 7/9 - 2
10-87958009-TGCTAAAAAA-T c.793_801del p.L265_K267del SpliceDonorDeletion 7/9 - 1
10-87958011-C-A c.793C>A p.L265I Missense 7/9 - 3
10-87958011-C-G c.793C>G p.L265V Missense 7/9 - 2
10-87958011-CTA-ATG c.793_795delinsATG p.L265M Missense 7/9 - 1
10-87958011-CT-GG c.793_794delinsGG p.L265G Missense 7/9 - 2
10-87958012-CT-C c.794del p.L265Qfs*11 Frameshift 7/9 - 1
10-87958012-T-A c.794T>A p.L265Q Missense 7/9 - 5
10-87958012-T-C c.794T>C p.L265P Missense 7/9 - 11
10-87958012-T-G c.794T>G p.L265R Missense 7/9 - 1
10-87958011-C-T c.793C>T p.L265= Synonymous 7/9 - 1
10-87958013-A-AT c.795_796insT p.K266* Nonsense 7/9 - 1
10-87958013-A-C c.795A>C p.L265= Synonymous 7/9 - 1
10-87958013-A-G c.795A>G p.L265= Synonymous 7/9 - 1
10-87958013-A-T c.795A>T p.L265= Synonymous 7/9 - 1
10-87958013-TAAAAAAGGTTTG-T c.795_801+5del - SpliceDonorDeletion 7/9 7/8 1
10-87958014-AAA-GAC c.796_798delinsGAC p.K266D Missense 7/9 - 1
10-87958014-AA-GC c.796_797delinsGC p.K266A Missense 7/9 - 3
10-87958014-A-G c.796A>G p.K266E Missense 7/9 - 1
10-87958014-A-T c.796A>T p.K266* Nonsense 7/9 - 14
10-87958015-A-C c.797A>C p.K266T Missense 7/9 - 1
10-87958015-A-G c.797A>G p.K266R Missense 7/9 - 8
10-87958016-A-AT c.798_799insT p.K267* Nonsense 7/9 - 14
10-87958016-A-C c.798A>C p.K266N Missense 7/9 - 4
10-87958016-A-T c.798A>T p.K266N Missense 7/9 - 4
10-87958017-A-AC c.799_800insC p.K267Tfs*31 SpliceDonorInsertion 7/9 - 3
10-87958017-AA-GC c.799_800delinsGC p.K267A Missense 7/9 - 3
10-87958017-AAG-GAC c.799_801delinsGAC p.K267D Missense 7/9 - 1
10-87958017-A-C c.799A>C p.K267Q Missense 7/9 - 2
10-87958017-A-G c.799A>G p.K267E Missense 7/9 - 1
10-87958017-A-T c.799A>T p.K267* Nonsense 7/9 - 2
10-87958012-TA-T c.800del p.K267Rfs*9 Frameshift 7/9 - 110
10-87958012-T-TA c.800dup p.D268Gfs*30 SpliceDonorInsertion 7/9 - 21
10-87958015-A-AAAAAG c.800_801insAGAAA p.D268Efs*10 Frameshift 7/9 - 1
10-87958018-AAG-A c.800_801del p.K267Rfs*30 SpliceDonorDeletion 7/9 - 2
10-87958018-A-G c.800A>G p.K267R Missense 7/9 - 3
10-87958019-G-A c.801G>A p.K267= Synonymous 7/9 - 1
10-87958019-G-C c.801G>C p.K267N Missense 7/9 - 1
10-87958019-G-T c.801G>T p.K267N Missense 7/9 - 3
10-87958018-AG-A c.801+1del - IntronicDeletion - 7/8 3
10-87958020-G-A c.801+1G>A - IntronicSNV - 7/8 2
10-87958020-G-T c.801+1G>T - IntronicSNV - 7/8 10
10-87958021-GTTTGT-G c.801+2_801+6del - IntronicDeletion - 7/8 1
10-87958021-T-A c.801+2T>A - IntronicSNV - 7/8 5
10-87958021-T-C c.801+2T>C - IntronicSNV - 7/8 2
10-87958021-T-G c.801+2T>G - IntronicSNV - 7/8 2
10-87958042-G-A c.801+23G>A - IntronicSNV - 7/8 2
10-87958112-G-A c.801+93G>A - IntronicSNV - 7/8 1
10-87959124-GA-G c.801+1115del - IntronicDeletion - 7/8 1
10-87959145-C-G c.801+1126C>G - IntronicSNV - 7/8 1
10-87960494-T-C c.802-400T>C - IntronicSNV - 7/8 3
10-87960891-T-A c.802-3T>A - IntronicSNV - 7/8 1
10-87960892-A-G c.802-2A>G - IntronicSNV - 7/8 6
10-87960892-A-T c.802-2A>T - IntronicSNV - 7/8 6
10-87960892-A-AG c.802dup p.D268Gfs*30 SpliceAcceptorInsertion 8/9 - 5
10-87960892-AG-A c.802del p.D268Tfs*8 Frameshift 8/9 - 3
10-87960894-G-T c.802G>T p.D268Y Missense 8/9 - 4
10-87960893-GGACAAAAT-G c.803_810del p.D268Vfs*27 SpliceAcceptorDeletion 8/9 - 1
10-87960894-G-GA c.803dup p.D268Efs*30 SpliceAcceptorInsertion 8/9 - 2
10-87960895-A-T c.803A>T p.D268V Missense 8/9 - 1
10-87960895-GACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCA-G c.803_861del p.D268Gfs*10 Unclassified 8/9 - 1
10-87960896-AC-A c.804del p.D268Efs*8 Frameshift 8/9 - 3
10-87960896-C-A c.804C>A p.D268E Missense 8/9 - 26
10-87960896-C-G c.804C>G p.D268E Missense 8/9 - 12
10-87960896-C-T c.804C>T p.D268= Synonymous 8/9 - 1
10-87960891-TAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACC-T c.805_847del p.K269Qfs*8 SpliceAcceptorDeletion 8/9 - 1
10-87960897-AAA-GAC c.805_807delinsGAC p.K269D Missense 8/9 - 1
10-87960897-AA-GC c.805_806delinsGC p.K269A Missense 8/9 - 3
10-87960897-A-C c.805A>C p.K269Q Missense 8/9 - 1
10-87960897-A-G c.805A>G p.K269E Missense 8/9 - 2
10-87960897-A-T c.805A>T p.K269* Nonsense 8/9 - 4
10-87960898-A-G c.806A>G p.K269R Missense 8/9 - 2
10-87960896-C-CA c.808dup p.M270Nfs*28 Frameshift 8/9 - 1
10-87960900-AATGTT-A c.808_812del p.M270Sfs*26 Frameshift 8/9 - 1
10-87960901-T-A c.809T>A p.M270K Missense 8/9 - 2
10-87960901-T-C c.809T>C p.M270T Missense 8/9 - 5
10-87960902-G-A c.810G>A p.M270I Missense 8/9 - 16
10-87960902-G-C c.810G>C p.M270I Missense 8/9 - 12
10-87960902-G-GA c.810_811insA p.F271Ifs*27 Frameshift 8/9 - 1
10-87960902-G-T c.810G>T p.M270I Missense 8/9 - 20
10-87960902-TG-T c.810del p.M270Ifs*6 Frameshift 8/9 - 2
10-87960903-T-A c.811T>A p.F271I Missense 8/9 - 7
10-87960903-T-C c.811T>C p.F271L Missense 8/9 - 5
10-87960903-T-G c.811T>G p.F271V Missense 8/9 - 1
10-87960903-TT-GA c.811_812delinsGA p.F271D Missense 8/9 - 1
10-87960905-T-A c.813T>A p.F271L Missense 8/9 - 4
10-87960905-T-G c.813T>G p.F271L Missense 8/9 - 4
10-87960904-T-C c.812T>C p.F271S Missense 8/9 - 13
10-87960904-TTTC-T c.812_814del p.F271_H272delinsY MultiAAMissense 8/9 - 1
10-87960902-GT-G c.813del p.H272Tfs*4 Frameshift 8/9 - 2
10-87960905-TTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAAC-T c.813_857del p.H272_T286del InFrameDeletion 8/9 - 1
10-87960906-C-A c.814C>A p.H272N Missense 8/9 - 1
10-87960906-C-T c.814C>T p.H272Y Missense 8/9 - 17
10-87960906-TC-T c.814del p.H272Tfs*4 Frameshift 8/9 - 1
10-87960905-TCA-T c.815_816del p.H272Lfs*25 Frameshift 8/9 - 1
10-87960907-A-C c.815A>C p.H272P Missense 8/9 - 9
10-87960907-A-G c.815A>G p.H272R Missense 8/9 - 9
10-87960908-C-A c.816C>A p.H272Q Missense 8/9 - 3
10-87960908-C-G c.816C>G p.H272Q Missense 8/9 - 3
10-87960909-T-C c.817T>C p.F273L Missense 8/9 - 4
10-87960909-TT-GC c.817_818delinsGC p.F273A Missense 8/9 - 1
10-87960911-T-A c.819T>A p.F273L Missense 8/9 - 3
10-87960911-T-G c.819T>G p.F273L Missense 8/9 - 3
10-87960910-T-C c.818T>C p.F273S Missense 8/9 - 2
10-87960910-T-G c.818T>G p.F273C Missense 8/9 - 1
10-87960910-TT-AA c.818_819inv p.F273* Nonsense 8/9 - 2
10-87960908-CTT-C c.819_820del p.F273Lfs*24 Frameshift 8/9 - 1
10-87960908-CT-C c.820del p.W274Gfs*2 Frameshift 8/9 - 7
10-87960912-T-C c.820T>C p.W274R Missense 8/9 - 1
10-87960912-T-G c.820T>G p.W274G Missense 8/9 - 3
10-87960912-TTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGG-T c.820_878del p.W274Kfs*4 InFrameDeletion 8/9 - 8
10-87960913-G-A c.821G>A p.W274* Nonsense 8/9 - 30
10-87960913-G-C c.821G>C p.W274S Missense 8/9 - 6
10-87960913-GG-CT c.821_822delinsCT p.W274S Missense 8/9 - 1
10-87960913-G-T c.821G>T p.W274L Missense 8/9 - 15
10-87960914-G-A c.822G>A p.W274* Nonsense 8/9 - 35
10-87960914-G-C c.822G>C p.W274C Missense 8/9 - 2
10-87960914-G-GTA c.822_823insTA p.V275* Nonsense 8/9 - 7
10-87960914-G-T c.822G>T p.W274C Missense 8/9 - 3
10-87960912-TG-T c.823del p.V275* Frameshift 8/9 - 8
10-87960912-T-TG c.823dup p.V275Gfs*23 Frameshift 8/9 - 1
10-87960915-G-A c.823G>A p.V275I Missense 8/9 - 1
10-87960915-G-C c.823G>C p.V275L Missense 8/9 - 1
10-87960915-GGTAAATACATTCTTCATA-G c.823_840del p.V275_I280del InFrameDeletion 8/9 - 1
10-87960915-GGT-G c.823_824del p.V275Kfs*22 Frameshift 8/9 - 1
10-87960915-G-T c.823G>T p.V275L Missense 8/9 - 5
10-87960915-GTA-ATG c.823_825delinsATG p.V275M Missense 8/9 - 1
10-87960915-GT-TA c.823_824delinsTA p.V275* Nonsense 8/9 - 2
10-87960916-T-A c.824T>A p.V275E Missense 8/9 - 1
10-87960916-T-C c.824T>C p.V275A Missense 8/9 - 2
10-87960916-T-G c.824T>G p.V275G Missense 8/9 - 2
10-87960917-A-T c.825A>T p.V275= Synonymous 8/9 - 1
10-87960915-GTAAA-G c.826_829del p.N276Hfs*14 Frameshift 8/9 - 3
10-87960917-A-AATC c.826_827insTCA p.V275_N276insI InFrameInsertion 8/9 - 1
10-87960918-A-C c.826A>C p.N276H Missense 8/9 - 1
10-87960918-A-G c.826A>G p.N276D Missense 8/9 - 5
10-87960918-A-T c.826A>T p.N276Y Missense 8/9 - 1
10-87960916-TA-T c.827del p.N276Ifs*15 Frameshift 8/9 - 3
10-87960919-A-G c.827A>G p.N276S Missense 8/9 - 18
10-87960919-A-T c.827A>T p.N276I Missense 8/9 - 1
10-87960920-AT-A c.828del p.N276Kfs*15 Frameshift 8/9 - 1
10-87960920-T-A c.828T>A p.N276K Missense 8/9 - 19
10-87960920-T-G c.828T>G p.N276K Missense 8/9 - 19
10-87960920-T-TA c.829dup p.T277Nfs*21 Frameshift 8/9 - 9
10-87960921-A-G c.829A>G p.T277A Missense 8/9 - 18
10-87960921-A-T c.829A>T p.T277S Missense 8/9 - 2
10-87960922-AC-A c.830del p.T277Nfs*14 Frameshift 8/9 - 1
10-87960922-C-A c.830C>A p.T277K Missense 8/9 - 6
10-87960922-C-G c.830C>G p.T277R Missense 8/9 - 7
10-87960922-C-T c.830C>T p.T277I Missense 8/9 - 36
10-87960923-A-C c.831A>C p.T277= Synonymous 8/9 - 1
10-87960924-T-C c.832T>C p.F278L Missense 8/9 - 11
10-87960926-C-A c.834C>A p.F278L Missense 8/9 - 9
10-87960926-C-G c.834C>G p.F278L Missense 8/9 - 19
10-87960921-ACATTCTT-A c.833_839del p.F278Yfs*11 Frameshift 8/9 - 1
10-87960923-A-AT c.833dup p.F279Lfs*19 Frameshift 8/9 - 1
10-87960925-T-C c.833T>C p.F278S Missense 8/9 - 2
10-87960926-C-T c.834C>T p.F278= Synonymous 8/9 - 1
10-87960926-TCTTC-T c.834_837del p.F278Lfs*12 Frameshift 8/9 - 1
10-87960927-T-A c.835T>A p.F279I Missense 8/9 - 1
10-87960927-T-C c.835T>C p.F279L Missense 8/9 - 2
10-87960929-C-G c.837C>G p.F279L Missense 8/9 - 1
10-87960928-T-C c.836T>C p.F279S Missense 8/9 - 1
10-87960929-C-A c.837C>A p.F279L Missense 8/9 - 2
10-87960929-TC-T c.837del p.F279Lfs*12 Frameshift 8/9 - 1
10-87960930-A-G c.838A>G p.I280V Missense 8/9 - 2
10-87960932-A-C c.840A>C p.I280= Synonymous 8/9 - 1
10-87960932-TAC-T c.840_841del p.P281Rfs*16 Frameshift 8/9 - 1
10-87960933-C-A c.841C>A p.P281T Missense 8/9 - 1
10-87960933-C-G c.841C>G p.P281A Missense 8/9 - 5
10-87960933-C-T c.841C>T p.P281S Missense 8/9 - 2
10-87960934-C-T c.842C>T p.P281L Missense 8/9 - 3
10-87960931-TACCAGGACCAGAGGAA-T c.843_858del p.G282Qfs*4 Frameshift 8/9 - 1
10-87960935-A-C c.843A>C p.P281= Synonymous 8/9 - 2
10-87960935-A-G c.843A>G p.P281= Synonymous 8/9 - 1
10-87960935-A-T c.843A>T p.P281= Synonymous 8/9 - 1
10-87960936-G-A c.844G>A p.G282R Missense 8/9 - 3
10-87960936-G-T c.844G>T p.G282* Nonsense 8/9 - 8
10-87960937-GA-ACGAGCTT c.845_846delinsACGAGCTT p.G282delinsDEL MultiAAMissense 8/9 - 1
10-87960935-AG-A c.845del p.G282Dfs*9 Frameshift 8/9 - 1
10-87960937-G-T c.845G>T p.G282V Missense 8/9 - 1
10-87960939-C-A c.847C>A p.P283T Missense 8/9 - 1
10-87960939-C-G c.847C>G p.P283A Missense 8/9 - 2
10-87960939-C-T c.847C>T p.P283S Missense 8/9 - 3
10-87960940-C-A c.848C>A p.P283Q Missense 8/9 - 1
10-87960940-C-T c.848C>T p.P283L Missense 8/9 - 2
10-87960941-A-C c.849A>C p.P283= Synonymous 8/9 - 1
10-87960941-A-G c.849A>G p.P283= Synonymous 8/9 - 2
10-87960941-A-T c.849A>T p.P283= Synonymous 8/9 - 1
10-87960941-CA-C c.849del p.E284Rfs*7 Frameshift 8/9 - 2
10-87960942-G-A c.850G>A p.E284K Missense 8/9 - 2
10-87960942-GA-TG c.850_851delinsTG p.E284W Missense 8/9 - 1
10-87960942-G-C c.850G>C p.E284Q Missense 8/9 - 1
10-87960942-G-T c.850G>T p.E284* Nonsense 8/9 - 10
10-87960940-CAG-C c.851_852del p.E284Gfs*13 Frameshift 8/9 - 1
10-87960943-A-G c.851A>G p.E284G Missense 8/9 - 5
10-87960943-A-T c.851A>T p.E284V Missense 8/9 - 1
10-87960943-GA-G c.851del p.E284Gfs*7 Frameshift 8/9 - 3
10-87960944-G-C c.852G>C p.E284D Missense 8/9 - 1
10-87960944-G-T c.852G>T p.E284D Missense 8/9 - 1
10-87960942-GAGGAAACCTC-G c.853_862del p.E285Kfs*3 Frameshift 8/9 - 1
10-87960943-A-AG c.853dup p.E285Gfs*13 Frameshift 8/9 - 2
10-87960945-G-A c.853G>A p.E285K Missense 8/9 - 12
10-87960945-G-T c.853G>T p.E285* Nonsense 8/9 - 7
10-87960946-A-C c.854A>C p.E285A Missense 8/9 - 1
10-87960946-A-G c.854A>G p.E285G Missense 8/9 - 1
10-87960946-A-T c.854A>T p.E285V Missense 8/9 - 3
10-87960947-A-G c.855A>G p.E285= Synonymous 8/9 - 3
10-87960947-A-T c.855A>T p.E285D Missense 8/9 - 1
10-87960945-GA-G c.856del p.T286Pfs*5 Frameshift 8/9 - 1
10-87960948-A-G c.856A>G p.T286A Missense 8/9 - 16
10-87960949-C-T c.857C>T p.T286I Missense 8/9 - 1
10-87960948-A-AC c.858dup p.S287Lfs*11 Frameshift 8/9 - 1
10-87960948-AC-A c.858del p.S287Qfs*4 Frameshift 8/9 - 1
10-87960950-C-A c.858C>A p.T286= Synonymous 8/9 - 1
10-87960950-CCTCAGAAA-C c.858_865del p.E288Rfs*7 Frameshift 8/9 - 2
10-87960949-CCT-C c.859_860del p.S287Rfs*10 Frameshift 8/9 - 2
10-87960951-CTCAGAAAAAGTAGA-C c.859_872del p.S287Kfs*6 Frameshift 8/9 - 1
10-87960951-T-C c.859T>C p.S287P Missense 8/9 - 4
10-87960951-TCA-GAC c.859_861delinsGAC p.S287D Missense 8/9 - 1
10-87960952-C-A c.860C>A p.S287* Nonsense 8/9 - 15
10-87960952-C-G c.860C>G p.S287* Nonsense 8/9 - 23
10-87960952-C-T c.860C>T p.S287L Missense 8/9 - 2
10-87960952-TCAGAAAAA-T c.860_867del p.S287Cfs*8 Frameshift 8/9 - 1
10-87960953-A-AT c.861_862insT p.E288* Nonsense 8/9 - 9
10-87960954-AG-A c.862del p.E288Kfs*3 Frameshift 8/9 - 2
10-87960954-AGAAAAAGT-A c.862_869del p.E288Rfs*7 Frameshift 8/9 - 2
10-87960954-G-A c.862G>A p.E288K Missense 8/9 - 11
10-87960954-G-T c.862G>T p.E288* Nonsense 8/9 - 10
10-87960955-A-G c.863A>G p.E288G Missense 8/9 - 1
10-87960955-A-T c.863A>T p.E288V Missense 8/9 - 1
10-87960956-A-AC c.864_865insC p.K289Qfs*9 Frameshift 8/9 - 1
10-87960956-A-AT c.864_865insT p.K289* Nonsense 8/9 - 2
10-87960956-A-G c.864A>G p.E288= Synonymous 8/9 - 2
10-87960956-A-T c.864A>T p.E288D Missense 8/9 - 1
10-87960957-A-ACT c.865_866insCT p.K289Tfs*3 Frameshift 8/9 - 1
10-87960957-A-C c.865A>C p.K289Q Missense 8/9 - 1
10-87960957-A-G c.865A>G p.K289E Missense 8/9 - 53
10-87960957-A-T c.865A>T p.K289* Nonsense 8/9 - 4
10-87960957-A-AAG c.866_867insGA p.V290Kfs*2 Frameshift 8/9 - 1
10-87960958-A-G c.866A>G p.K289R Missense 8/9 - 7
10-87960954-GA-G c.867del p.V290* Frameshift 8/9 - 23
10-87960954-G-GA c.867dup p.V290Sfs*8 Frameshift 8/9 - 17
10-87960958-A-AAT c.867_868insTA p.V290* Nonsense 8/9 - 4
10-87960959-AAG-A c.867_868del p.K289Nfs*8 Frameshift 8/9 - 1
10-87960959-A-G c.867A>G p.K289= Synonymous 8/9 - 2
10-87960959-A-T c.867A>T p.K289N Missense 8/9 - 1
10-87960956-AAAAGTAG-A c.868_874del p.V290Mfs*15 Frameshift 8/9 - 2
10-87960960-AG-A c.868del p.V290* Frameshift 8/9 - 1
10-87960960-G-C c.868G>C p.V290L Missense 8/9 - 7
10-87960960-G-GA c.868_869insA p.V290Dfs*8 Frameshift 8/9 - 1
10-87960960-G-T c.868G>T p.V290L Missense 8/9 - 1
10-87960960-GTA-ATG c.868_870delinsATG p.V290M Missense 8/9 - 1
10-87960960-GT-TA c.868_869delinsTA p.V290* Nonsense 8/9 - 7
10-87960961-T-A c.869T>A p.V290E Missense 8/9 - 1
10-87960961-T-C c.869T>C p.V290A Missense 8/9 - 2
10-87960962-A-AT c.870_871insT p.E291* Nonsense 8/9 - 2
10-87960962-A-G c.870A>G p.V290= Synonymous 8/9 - 4
10-87960962-TA-T c.870del p.E291Kfs*16 Frameshift 8/9 - 3
10-87960961-TAGAAAATGG-T c.871_879del p.E291_G293del InFrameDeletion 8/9 - 1
10-87960963-AG-A c.871del p.E291Kfs*16 Frameshift 8/9 - 1
10-87960963-G-A c.871G>A p.E291K Missense 8/9 - 5
10-87960963-G-T c.871G>T p.E291* Nonsense 8/9 - 7
10-87960964-A-G c.872A>G p.E291G Missense 8/9 - 2
10-87960965-A-C c.873A>C p.E291D Missense 8/9 - 1
10-87960965-A-T c.873A>T p.E291D Missense 8/9 - 1
10-87960963-G-GA c.875dup p.N292Kfs*6 Frameshift 8/9 - 3
10-87960967-A-G c.875A>G p.N292S Missense 8/9 - 1
10-87960967-AT-TG c.875_876delinsTG p.N292M Missense 8/9 - 1
10-87960969-G-A c.877G>A p.G293R Missense 8/9 - 2
10-87960969-G-C c.877G>C p.G293R Missense 8/9 - 1
10-87960969-G-T c.877G>T p.G293* Nonsense 8/9 - 18
10-87960969-TGG-T c.877_878del p.G293Kfs*4 Frameshift 8/9 - 1
10-87960968-TG-T c.878del p.G293Efs*14 Frameshift 8/9 - 5
10-87960970-G-A c.878G>A p.G293E Missense 8/9 - 1
10-87960970-G-C c.878G>C p.G293A Missense 8/9 - 1
10-87960970-G-T c.878G>T p.G293V Missense 8/9 - 6
10-87960971-A-C c.879A>C p.G293= Synonymous 8/9 - 4
10-87960971-A-G c.879A>G p.G293= Synonymous 8/9 - 5
10-87960971-A-T c.879A>T p.G293= Synonymous 8/9 - 4
10-87960970-GA-G c.880del p.S294Vfs*13 Frameshift 8/9 - 1
10-87960972-AG-GC c.880_881delinsGC p.S294A Missense 8/9 - 2
10-87960972-AG-TT c.880_881delinsTT p.S294F Missense 8/9 - 1
10-87960972-A-T c.880A>T p.S294C Missense 8/9 - 1
10-87960971-AAGTCT-A c.881_885del p.S294Mfs*2 Frameshift 8/9 - 2
10-87960973-AGT-A c.881_882del p.S294Tfs*3 Frameshift 8/9 - 1
10-87960973-G-A c.881G>A p.S294N Missense 8/9 - 3
10-87960973-G-T c.881G>T p.S294I Missense 8/9 - 1
10-87960971-AAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTAT-A c.882_919del p.S294Rfs*5 Frameshift 8/9 - 1
10-87960972-A-C c.880A>C p.S294R Missense 8/9 - 4
10-87960973-G-GT c.882dup p.L295Sfs*3 Frameshift 8/9 - 1
10-87960974-T-A c.882T>A p.S294R Missense 8/9 - 4
10-87960974-T-C c.882T>C p.S294= Synonymous 8/9 - 4
10-87960974-T-G c.882T>G p.S294R Missense 8/9 - 15
10-87960973-GTC-G c.883_884del p.L295Mfs*2 Frameshift 8/9 - 4
10-87960974-T-TC c.883dup p.L295Pfs*3 Frameshift 8/9 - 1
10-87960975-C-G c.883C>G p.L295V Missense 8/9 - 4
10-87960975-CT-TA c.883_884delinsTA p.L295* Nonsense 8/9 - 1
10-87960975-C-CT c.884dup p.C296Mfs*2 Frameshift 8/9 - 6
10-87960975-C-CTT c.884_885insTT p.C296Yfs*12 Frameshift 8/9 - 1
10-87960976-CT-C c.884del p.L295Hfs*12 Frameshift 8/9 - 3
10-87960975-C-T c.883C>T p.L295= Synonymous 8/9 - 2
10-87960975-CTA-C c.885_886del p.C296* Frameshift 8/9 - 1
10-87960975-CTATG-C c.885_888del p.C296Ifs*10 Frameshift 8/9 - 1
10-87960976-T-TA c.885dup p.C296Mfs*2 Frameshift 8/9 - 1
10-87960977-A-G c.885A>G p.L295= Synonymous 8/9 - 4
10-87960977-A-T c.885A>T p.L295= Synonymous 8/9 - 1
10-87960978-AT-A c.886del p.C296Vfs*11 Frameshift 8/9 - 2
10-87960978-T-C c.886T>C p.C296R Missense 8/9 - 3
10-87960978-TG-GC c.886_887delinsGC p.C296A Missense 8/9 - 1
10-87960978-T-TA c.886_887insA p.C296* Nonsense 8/9 - 1
10-87960979-G-A c.887G>A p.C296Y Missense 8/9 - 1
10-87960979-TG-T c.887del p.C296Lfs*11 Frameshift 8/9 - 1
10-87960977-ATG-A c.888_889del p.C296* Frameshift 8/9 - 1
10-87960979-G-GT c.888dup p.D297* Nonsense 8/9 - 2
10-87960980-T-A c.888T>A p.C296* Nonsense 8/9 - 4
10-87960980-T-C c.888T>C p.C296= Synonymous 8/9 - 1
10-87960979-GTGA-G c.889_891del p.D297del InFrameDeletion 8/9 - 2
10-87960981-G-A c.889G>A p.D297N Missense 8/9 - 7
10-87960981-G-C c.889G>C p.D297H Missense 8/9 - 3
10-87960981-G-T c.889G>T p.D297Y Missense 8/9 - 5
10-87960981-TG-T c.889del p.D297Ifs*10 Frameshift 8/9 - 2
10-87960982-GA-G c.890del p.D297Vfs*10 Frameshift 8/9 - 1
10-87960983-AT-A c.891del p.Q298Kfs*9 Frameshift 8/9 - 1
10-87960983-T-TG c.891_892insG p.Q298Afs*5 Frameshift 8/9 - 3
10-87960984-C-A c.892C>A p.Q298K Missense 8/9 - 3
10-87960984-C-G c.892C>G p.Q298E Missense 8/9 - 11
10-87960984-C-T c.892C>T p.Q298* Nonsense 8/9 - 50
10-87960984-TC-T c.892del p.Q298Kfs*9 Frameshift 8/9 - 1
10-87960985-A-G c.893A>G p.Q298R Missense 8/9 - 4
10-87960986-A-G c.894A>G p.Q298= Synonymous 8/9 - 2
10-87960987-G-C c.895G>C p.E299Q Missense 8/9 - 1
10-87960987-G-T c.895G>T p.E299* Nonsense 8/9 - 37
10-87960988-A-G c.896A>G p.E299G Missense 8/9 - 3
10-87960988-A-T c.896A>T p.E299V Missense 8/9 - 1
10-87960989-A-C c.897A>C p.E299D Missense 8/9 - 1
10-87960989-A-T c.897A>T p.E299D Missense 8/9 - 2
10-87960987-GA-G c.898del p.I300Sfs*7 Frameshift 8/9 - 4
10-87960991-AT-A c.899del p.I300Tfs*7 Frameshift 8/9 - 1
10-87960991-ATC-A c.899_900del p.I300Rfs*2 Frameshift 8/9 - 1
10-87960992-C-A c.900C>A p.I300= Synonymous 8/9 - 3
10-87960992-C-CT c.900_901insT p.D301* Nonsense 8/9 - 2
10-87960992-C-T c.900C>T p.I300= Synonymous 8/9 - 13
10-87960992-TC-T c.900del p.I300Mfs*7 Frameshift 8/9 - 10
10-87960993-CG-C c.901del p.D301Ifs*6 Frameshift 8/9 - 4
10-87960993-G-A c.901G>A p.D301N Missense 8/9 - 9
10-87960993-G-C c.901G>C p.D301H Missense 8/9 - 1
10-87960993-G-T c.901G>T p.D301Y Missense 8/9 - 2
10-87960994-A-T c.902A>T p.D301V Missense 8/9 - 1
10-87960994-A-AT c.903dup p.S302* Nonsense 8/9 - 1
10-87960995-T-C c.903T>C p.D301= Synonymous 8/9 - 1
10-87960995-T-G c.903T>G p.D301E Missense 8/9 - 1
10-87960993-GATAGC-G c.904_908del p.S302Lfs*8 Frameshift 8/9 - 1
10-87960996-A-G c.904A>G p.S302G Missense 8/9 - 2
10-87960996-AG-CC c.904_905delinsCC p.S302P Missense 8/9 - 1
10-87960996-AGC-GAG c.904_906delinsGAG p.S302E Missense 8/9 - 1
10-87960996-AG-GC c.904_905delinsGC p.S302A Missense 8/9 - 3
10-87960997-G-A c.905G>A p.S302N Missense 8/9 - 3
10-87960997-G-C c.905G>C p.S302T Missense 8/9 - 1
10-87960997-G-T c.905G>T p.S302I Missense 8/9 - 1
10-87960996-A-C c.904A>C p.S302R Missense 8/9 - 2
10-87960997-G-GC c.906dup p.I303Hfs*9 Frameshift 8/9 - 2
10-87960998-C-A c.906C>A p.S302R Missense 8/9 - 4
10-87960998-C-G c.906C>G p.S302R Missense 8/9 - 4
10-87960998-C-T c.906C>T p.S302= Synonymous 8/9 - 1
10-87960998-GC-G c.906del p.S302Rfs*5 Frameshift 8/9 - 1
10-87960999-A-G c.907A>G p.I303V Missense 8/9 - 4
10-87960999-A-T c.907A>T p.I303F Missense 8/9 - 1
10-87960999-ATT-GAG c.907_909delinsGAG p.I303E Missense 8/9 - 2
10-87960999-CA-C c.907del p.I303Ffs*4 Frameshift 8/9 - 1
10-87961000-T-A c.908T>A p.I303N Missense 8/9 - 1
10-87961000-T-C c.908T>C p.I303T Missense 8/9 - 1
10-87961000-T-G c.908T>G p.I303S Missense 8/9 - 1
10-87960999-A-AT c.910dup p.C304Lfs*8 Frameshift 8/9 - 1
10-87960999-AT-A c.910del p.C304Afs*3 Frameshift 8/9 - 1
10-87961002-T-A c.910T>A p.C304S Missense 8/9 - 1
10-87961002-T-C c.910T>C p.C304R Missense 8/9 - 3
10-87961002-T-G c.910T>G p.C304G Missense 8/9 - 1
10-87961002-TG-GC c.910_911delinsGC p.C304A Missense 8/9 - 1
10-87961001-TTGCAGTATAGAGCGTGCAGATAATGACAAGGAATATC-T c.911_947del p.C304* Frameshift 8/9 - 1
10-87961003-G-A c.911G>A p.C304Y Missense 8/9 - 1
10-87961003-G-C c.911G>C p.C304S Missense 8/9 - 2
10-87961003-G-T c.911G>T p.C304F Missense 8/9 - 2
10-87961003-TGCAG-T c.911_914del p.C304Lfs*2 Frameshift 8/9 - 2
10-87961002-TGCA-T c.912_914del p.S305del InFrameDeletion 8/9 - 1
10-87961004-GC-G c.912del p.C304* Frameshift 8/9 - 3
10-87961005-A-AT c.913_914insT p.S305Mfs*7 Frameshift 8/9 - 1
10-87961005-AG-GC c.913_914delinsGC p.S305A Missense 8/9 - 1
10-87961006-AG-A c.914del p.S305Ifs*2 Frameshift 8/9 - 1
10-87961006-G-A c.914G>A p.S305N Missense 8/9 - 6
10-87961006-G-T c.914G>T p.S305I Missense 8/9 - 2
10-87961007-GT-G c.915del p.S305Rfs*2 Frameshift 8/9 - 1
10-87961007-T-C c.915T>C p.S305= Synonymous 8/9 - 2
10-87961007-T-TA c.916dup p.I306Nfs*6 Frameshift 8/9 - 1
10-87961008-A-G c.916A>G p.I306V Missense 8/9 - 1
10-87961008-TA-T c.916del p.I306* Frameshift 8/9 - 1
10-87961006-GTA-G c.917_918del p.I306Rfs*5 Frameshift 8/9 - 1
10-87961008-A-AT c.917dup p.E307Rfs*5 Frameshift 8/9 - 2
10-87961009-T-TA c.918dup p.E307Rfs*5 Frameshift 8/9 - 1
10-87961010-A-AT c.918_919insT p.E307* Nonsense 8/9 - 1
10-87961011-AGAG-A c.919_921del p.E307del InFrameDeletion 8/9 - 2
10-87961011-G-A c.919G>A p.E307K Missense 8/9 - 17
10-87961011-GAG-TAT c.919_921delinsTAT p.E307Y Missense 8/9 - 1
10-87961011-G-C c.919G>C p.E307Q Missense 8/9 - 2
10-87961011-G-T c.919G>T p.E307* Nonsense 8/9 - 10
10-87961010-AGAGC-A c.920_923del p.E307Vfs*9 Frameshift 8/9 - 1
10-87961011-G-GATAT c.920_921insTATA p.E307Dfs*6 Frameshift 8/9 - 1
10-87961012-A-G c.920A>G p.E307G Missense 8/9 - 5
10-87961013-G-A c.921G>A p.E307= Synonymous 8/9 - 2
10-87961013-G-C c.921G>C p.E307D Missense 8/9 - 1
10-87961013-G-GT c.921_922insT p.R308Sfs*4 Frameshift 8/9 - 1
10-87961014-C-CA c.922_923insA p.R308Qfs*4 Frameshift 8/9 - 1
10-87961014-C-G c.922C>G p.R308G Missense 8/9 - 2
10-87961014-CGT-GAG c.922_924delinsGAG p.R308E Missense 8/9 - 1
10-87961014-CGT-TGA c.922_924delinsTGA p.R308* Nonsense 8/9 - 1
10-87961014-C-T c.922C>T p.R308C Missense 8/9 - 8
10-87961014-GC-G c.922del p.R308Vfs*9 Frameshift 8/9 - 1
10-87961015-CG-C c.923del p.R308Lfs*9 Frameshift 8/9 - 7
10-87961015-CGTGCAGATAATGACAAGGAATATCTAGTACTTACT-C c.923_957del p.R308Lfs*5 Frameshift 8/9 - 2
10-87961015-G-A c.923G>A p.R308H Missense 8/9 - 8
10-87961015-GT-AA c.923_924delinsAA p.R308Q Missense 8/9 - 1
10-87961017-G-A c.925G>A p.A309T Missense 8/9 - 4
10-87961017-GC-TA c.925_926delinsTA p.A309* Nonsense 8/9 - 1
10-87961017-G-T c.925G>T p.A309S Missense 8/9 - 2
10-87961017-TGCAG-T c.925_928del p.A309Ifs*7 Frameshift 8/9 - 1
10-87961017-G-GC c.926dup p.D310Rfs*2 Frameshift 8/9 - 2
10-87961017-G-GCC c.926_927insCC p.D310Qfs*8 Frameshift 8/9 - 1
10-87961018-C-T c.926C>T p.A309V Missense 8/9 - 6
10-87961018-C-CA c.927dup p.D310Rfs*2 Frameshift 8/9 - 1
10-87961019-A-C c.927A>C p.A309= Synonymous 8/9 - 1
10-87961019-A-G c.927A>G p.A309= Synonymous 8/9 - 1
10-87961019-A-T c.927A>T p.A309= Synonymous 8/9 - 1
10-87961019-CA-C c.927del p.D310Ifs*7 Frameshift 8/9 - 1
10-87961020-G-A c.928G>A p.D310N Missense 8/9 - 2
10-87961020-G-C c.928G>C p.D310H Missense 8/9 - 2
10-87961020-G-GGTGCA c.928_929insGTGCA p.D310Gfs*9 Frameshift 8/9 - 1
10-87961020-G-GTT c.928_929insTT p.D310Vfs*8 Frameshift 8/9 - 1
10-87961020-G-T c.928G>T p.D310Y Missense 8/9 - 2
10-87961021-A-G c.929A>G p.D310G Missense 8/9 - 11
10-87961020-GAT-G c.930_931del p.D310Efs*2 Frameshift 8/9 - 2
10-87961021-A-AT c.930dup p.N311* Nonsense 8/9 - 3
10-87961022-T-TC c.930_931insC p.N311Qfs*2 Frameshift 8/9 - 1
10-87961023-AA-GC c.931_932delinsGC p.N311A Missense 8/9 - 1
10-87961023-A-C c.931A>C p.N311H Missense 8/9 - 1
10-87961023-A-T c.931A>T p.N311Y Missense 8/9 - 1
10-87961024-A-AT c.933dup p.D312* Nonsense 8/9 - 2
10-87961025-T-TG c.934dup p.D312Gfs*13 Frameshift 8/9 - 4
10-87961026-G-A c.934G>A p.D312N Missense 8/9 - 6
10-87961027-A-G c.935A>G p.D312G Missense 8/9 - 1
10-87961027-GA-G c.935del p.D312Afs*5 Frameshift 8/9 - 1
10-87961022-TAATGACAAGGAATATCTAGTACTTACTTTAACAAAA-T c.936_971del p.K313_D324del InFrameDeletion 8/9 - 1
10-87961028-C-CT c.936_937insT p.K313* Nonsense 8/9 - 2
10-87961028-C-G c.936C>G p.D312E Missense 8/9 - 1
10-87961029-AA-GC c.937_938delinsGC p.K313A Missense 8/9 - 1
10-87961029-A-G c.937A>G p.K313E Missense 8/9 - 1
10-87961029-A-T c.937A>T p.K313* Nonsense 8/9 - 2
10-87961028-CA-C c.938del p.K313Rfs*4 Frameshift 8/9 - 2
10-87961030-A-G c.938A>G p.K313R Missense 8/9 - 5
10-87961030-A-T c.938A>T p.K313M Missense 8/9 - 1
10-87961028-CAAGG-C c.939_942del p.K313Nfs*3 Frameshift 8/9 - 1
10-87961031-G-A c.939G>A p.K313= Synonymous 8/9 - 2
10-87961031-G-T c.939G>T p.K313N Missense 8/9 - 1
10-87961030-A-AG c.940dup p.E314Gfs*11 Frameshift 8/9 - 1
10-87961030-AG-A c.940del p.E314Nfs*3 Frameshift 8/9 - 1
10-87961032-G-A c.940G>A p.E314K Missense 8/9 - 3
10-87961032-G-C c.940G>C p.E314Q Missense 8/9 - 1
10-87961032-G-T c.940G>T p.E314* Nonsense 8/9 - 9
10-87961033-A-C c.941A>C p.E314A Missense 8/9 - 2
10-87961033-A-T c.941A>T p.E314V Missense 8/9 - 1
10-87961032-GA-G c.942del p.E314Dfs*3 Frameshift 8/9 - 1
10-87961034-A-C c.942A>C p.E314D Missense 8/9 - 1
10-87961034-A-G c.942A>G p.E314= Synonymous 8/9 - 4
10-87961034-A-T c.942A>T p.E314D Missense 8/9 - 1
10-87961035-T-C c.943T>C p.Y315H Missense 8/9 - 2
10-87961036-A-G c.944A>G p.Y315C Missense 8/9 - 1
10-87961036-A-T c.944A>T p.Y315F Missense 8/9 - 7
10-87961037-ATCT-A c.945_947del p.Y315_L316delins* MultiAAMissense 8/9 - 1
10-87961037-T-A c.945T>A p.Y315* Nonsense 8/9 - 10
10-87961037-T-G c.945T>G p.Y315* Nonsense 8/9 - 8
10-87961036-ATCTAG-A c.946_950del p.L316Tfs*7 Frameshift 8/9 - 1
10-87961038-C-A c.946C>A p.L316I Missense 8/9 - 2
10-87961038-CT-GC c.946_947delinsGC p.L316A Missense 8/9 - 1
10-87961039-CTAGTACTT-C c.947_954del p.L316Hfs*6 Frameshift 8/9 - 1
10-87961039-T-C c.947T>C p.L316P Missense 8/9 - 3
10-87961040-A-G c.948A>G p.L316= Synonymous 8/9 - 1
10-87961039-TAGTACTTACTTTAACAAA-T c.949_966del p.V317_K322del InFrameDeletion 8/9 - 3
10-87961039-TAGTACTTACTTTAACA-T c.949_964del p.V317Kfs*22 Frameshift 8/9 - 1
10-87961041-AG-A c.949del p.V317Yfs*4 Frameshift 8/9 - 4
10-87961041-AGTAC-A c.949_952del p.V317Lfs*3 Frameshift 8/9 - 1
10-87961041-G-A c.949G>A p.V317I Missense 8/9 - 3
10-87961041-GT-TA c.949_950delinsTA p.V317* Nonsense 8/9 - 1
10-87961042-GTACTT-G c.950_954del p.V317Dfs*6 Frameshift 8/9 - 1
10-87961042-T-A c.950T>A p.V317E Missense 8/9 - 1
10-87961042-T-C c.950T>C p.V317A Missense 8/9 - 1
10-87961042-T-G c.950T>G p.V317G Missense 8/9 - 1
10-87961042-T-TA c.951dup p.L318Tfs*7 Frameshift 8/9 - 1
10-87961043-A-C c.951A>C p.V317= Synonymous 8/9 - 1
10-87961043-A-G c.951A>G p.V317= Synonymous 8/9 - 1
10-87961043-A-T c.951A>T p.V317= Synonymous 8/9 - 1
10-87961044-C-T c.952C>T p.L318F Missense 8/9 - 4
10-87961044-CT-AG c.952_953inv p.L318S Missense 8/9 - 1
10-87961045-CTT-C c.953_954del p.L318Hfs*6 Frameshift 8/9 - 1
10-87961045-T-C c.953T>C p.L318P Missense 8/9 - 7
10-87961044-C-CT c.954dup p.T319Yfs*6 Frameshift 8/9 - 4
10-87961046-T-A c.954T>A p.L318= Synonymous 8/9 - 2
10-87961046-T-C c.954T>C p.L318= Synonymous 8/9 - 1
10-87961046-T-G c.954T>G p.L318= Synonymous 8/9 - 1
10-87961046-T-TTA c.954_955insTA p.T319* Nonsense 8/9 - 19
10-87961046-T-TTAA c.954_955insTAA p.L318_T319ins* InFrameInsertion 8/9 - 1
10-87961024-A-ATGACAAGGAATATCTAGTACTTATC c.955_956insTCTGACAAGGAATATCTAGTACTTA p.T319Ifs*2 Frameshift 8/9 - 1
10-87961041-GTACT-G c.955_958del p.T319* Frameshift 8/9 - 92
10-87961045-TTAC-T c.955_957del p.T319del InFrameDeletion 8/9 - 6
10-87961046-T-TA c.955dup p.T319Nfs*6 Frameshift 8/9 - 37
10-87961047-AC-TA c.955_956delinsTA p.T319Y Missense 8/9 - 1
10-87961047-ACT-GAG c.955_957delinsGAG p.T319E Missense 8/9 - 1
10-87961047-AC-TT c.955_956delinsTT p.T319F Missense 8/9 - 1
10-87961047-ACT-TAA c.955_957delinsTAA p.T319* Nonsense 8/9 - 29
10-87961047-A-G c.955A>G p.T319A Missense 8/9 - 5
10-87961047-TACTTTAACAAAAAATGATCTTGACAAAGCAAATAAAGACAAA-T c.955_996del p.T319_K332del InFrameDeletion 8/9 - 4
10-87961047-TA-T c.955del p.T319Lfs*2 Frameshift 8/9 - 1
10-87961044-CTTACT-C c.956_960del p.T319Nfs*4 Frameshift 8/9 - 2
10-87961047-A-AC c.956dup p.L320Ffs*5 Frameshift 8/9 - 1
10-87961048-AC-A c.956del p.T319Ifs*2 Frameshift 8/9 - 3
10-87961048-ACT-A c.956_957del p.T319Ifs*5 Frameshift 8/9 - 1
10-87961048-ACTTT-A c.956_959del p.T319Kfs*24 Frameshift 8/9 - 20
10-87961048-C-A c.956C>A p.T319N Missense 8/9 - 2
10-87961048-C-T c.956C>T p.T319I Missense 8/9 - 3
10-87961048-CT-TG c.956_957delinsTG p.T319M Missense 8/9 - 1
10-87961049-T-A c.957T>A p.T319= Synonymous 8/9 - 2
10-87961049-T-C c.957T>C p.T319= Synonymous 8/9 - 3
10-87961049-T-G c.957T>G p.T319= Synonymous 8/9 - 2
10-87961048-CTT-C c.958_959del p.L320Nfs*4 Frameshift 8/9 - 1
10-87961049-T-TTAA c.958_959insAAT p.T319_L320ins* InFrameInsertion 8/9 - 1
10-87961050-T-C c.958T>C p.L320= Synonymous 8/9 - 1
10-87961050-T-G c.958T>G p.L320V Missense 8/9 - 5
10-87961050-TT-AG c.958_959delinsAG p.L320R Missense 8/9 - 1
10-87961050-TTA-GAC c.958_960delinsGAC p.L320D Missense 8/9 - 1
10-87961050-TT-GA c.958_959delinsGA p.L320E Missense 8/9 - 1
10-87961050-TT-GC c.958_959delinsGC p.L320A Missense 8/9 - 1
10-87961052-A-G c.960A>G p.L320= Synonymous 8/9 - 1
10-87961048-C-CT c.959dup p.L320Ffs*5 Frameshift 8/9 - 6
10-87961048-CT-C c.959del p.L320* Frameshift 8/9 - 1
10-87961051-T-A c.959T>A p.L320* Nonsense 8/9 - 26
10-87961051-T-C c.959T>C p.L320S Missense 8/9 - 21
10-87961051-T-G c.959T>G p.L320* Nonsense 8/9 - 26
10-87961052-A-C c.960A>C p.L320F Missense 8/9 - 3
10-87961052-A-T c.960A>T p.L320F Missense 8/9 - 3
10-87961051-TA-T c.961del p.T321Qfs*23 Frameshift 8/9 - 4
10-87961053-AC-GA c.961_962delinsGA p.T321E Missense 8/9 - 1
10-87961053-A-G c.961A>G p.T321A Missense 8/9 - 4
10-87961053-A-T c.961A>T p.T321S Missense 8/9 - 1
10-87961051-TAAC-T c.962_964del p.T321del InFrameDeletion 8/9 - 1
10-87961054-AC-A c.962del p.T321Kfs*23 Frameshift 8/9 - 3
10-87961054-C-CTGACAAGGAATATCTAGTACTT c.962_963insTGACAAGGAATATCTAGTACTT p.K322Dfs*10 Frameshift 8/9 - 1
10-87961054-C-T c.962C>T p.T321I Missense 8/9 - 4
10-87961055-A-AGG c.963_964insGG p.K322Gfs*23 Frameshift 8/9 - 1
10-87961055-A-AT c.963_964insT p.K322* Nonsense 8/9 - 1
10-87961056-A-AGG c.964_965insGG p.K322Rfs*23 Frameshift 8/9 - 1
10-87961056-A-C c.964A>C p.K322Q Missense 8/9 - 1
10-87961056-A-G c.964A>G p.K322E Missense 8/9 - 9
10-87961056-A-T c.964A>T p.K322* Nonsense 8/9 - 7
10-87961057-A-G c.965A>G p.K322R Missense 8/9 - 3
10-87961058-A-AT c.966_967insT p.N323* Nonsense 8/9 - 7
10-87961058-A-G c.966A>G p.K322= Synonymous 8/9 - 1
10-87961054-CAA-C c.967_968del p.N323* Frameshift 8/9 - 1
10-87961059-A-C c.967A>C p.N323H Missense 8/9 - 1
10-87961059-A-G c.967A>G p.N323D Missense 8/9 - 1
10-87961054-CA-C c.968del p.N323Mfs*21 Frameshift 8/9 - 43
10-87961054-C-CA c.968dup p.N323Kfs*2 Frameshift 8/9 - 52
10-87961060-A-C c.968A>C p.N323T Missense 8/9 - 5
10-87961060-A-G c.968A>G p.N323S Missense 8/9 - 1
10-87961060-AT-TG c.968_969delinsTG p.N323M Missense 8/9 - 3
10-87961061-AT-A c.969del p.N323Kfs*21 Frameshift 8/9 - 13
10-87961061-ATGATCTTGACAAAGCAAATAAAG-A c.969_991del p.N323Kfs*12 Frameshift 8/9 - 1
10-87961061-T-A c.969T>A p.N323K Missense 8/9 - 5
10-87961061-T-G c.969T>G p.N323K Missense 8/9 - 4
10-87961057-AAAATGATCTTGACAAAGC-A c.970_987del p.D324_N329del InFrameDeletion 8/9 - 1
10-87961059-AATG-A c.970_972del p.D324del InFrameDeletion 8/9 - 1
10-87961061-T-TG c.970dup p.D324Gfs*3 Frameshift 8/9 - 1
10-87961062-G-A c.970G>A p.D324N Missense 8/9 - 1
10-87961062-GA-AT c.970_971delinsAT p.D324I Missense 8/9 - 1
10-87961062-G-T c.970G>T p.D324Y Missense 8/9 - 6
10-87961060-ATGATCT-A c.972_977del p.L325_D326del InFrameDeletion 8/9 - 1
10-87961062-GATCTTGACA-G c.972_980del p.D324_K327delinsE MultiAAMissense 8/9 - 1
10-87961064-AT-A c.972del p.D326Tfs*18 Frameshift 8/9 - 1
10-87961064-T-C c.972T>C p.D324= Synonymous 8/9 - 1
10-87961063-ATCT-A c.973_975del p.L325del InFrameDeletion 8/9 - 1
10-87961065-C-G c.973C>G p.L325V Missense 8/9 - 2
10-87961065-C-T c.973C>T p.L325F Missense 8/9 - 19
10-87961065-TC-T c.973del p.D326Tfs*18 Frameshift 8/9 - 1
10-87961066-T-A c.974T>A p.L325H Missense 8/9 - 3
10-87961066-T-C c.974T>C p.L325P Missense 8/9 - 9
10-87961066-T-G c.974T>G p.L325R Missense 8/9 - 17
10-87961065-C-CT c.975dup p.D326* Nonsense 8/9 - 4
10-87961067-T-A c.975T>A p.L325= Synonymous 8/9 - 1
10-87961067-TGACAAAGCAAATA-CGCTT c.975_988delinsCGCTT p.D326_K330delinsA* MultiAAMissense 8/9 - 1
10-87961068-G-A c.976G>A p.D326N Missense 8/9 - 25
10-87961068-G-C c.976G>C p.D326H Missense 8/9 - 9
10-87961068-G-T c.976G>T p.D326Y Missense 8/9 - 6
10-87961068-TGAC-T c.976_978del p.D326del InFrameDeletion 8/9 - 1
10-87961068-TG-T c.976del p.D326Tfs*18 Frameshift 8/9 - 3
10-87961069-A-G c.977A>G p.D326G Missense 8/9 - 15
10-87961069-A-T c.977A>T p.D326V Missense 8/9 - 4
10-87961068-GAC-G c.978_979del p.D326Efs*4 Frameshift 8/9 - 3
10-87961070-C-A c.978C>A p.D326E Missense 8/9 - 1
10-87961070-C-CT c.978_979insT p.K327* Nonsense 8/9 - 1
10-87961070-C-G c.978C>G p.D326E Missense 8/9 - 1
10-87961071-AAA-GAC c.979_981delinsGAC p.K327D Missense 8/9 - 1
10-87961071-AA-GC c.979_980delinsGC p.K327A Missense 8/9 - 2
10-87961071-A-G c.979A>G p.K327E Missense 8/9 - 3
10-87961071-A-T c.979A>T p.K327* Nonsense 8/9 - 1
10-87961072-A-C c.980A>C p.K327T Missense 8/9 - 1
10-87961072-A-G c.980A>G p.K327R Missense 8/9 - 2
10-87961070-CA-C c.981del p.A328Qfs*16 Frameshift 8/9 - 4
10-87961072-A-AAT c.981_982insTA p.A328* Nonsense 8/9 - 1
10-87961069-ACAAAG-A c.982_986del p.A328* Frameshift 8/9 - 1
10-87961074-AG-A c.982del p.A328Qfs*16 Frameshift 8/9 - 3
10-87961074-G-A c.982G>A p.A328T Missense 8/9 - 1
10-87961074-GC-TA c.982_983delinsTA p.A328* Nonsense 8/9 - 3
10-87961074-G-T c.982G>T p.A328S Missense 8/9 - 1
10-87961075-C-A c.983C>A p.A328E Missense 8/9 - 2
10-87961075-C-G c.983C>G p.A328G Missense 8/9 - 1
10-87961075-C-T c.983C>T p.A328V Missense 8/9 - 2
10-87961076-A-AT c.984_985insT p.N329* Nonsense 8/9 - 4
10-87961075-CAA-C c.985_986del p.N329* Frameshift 8/9 - 1
10-87961077-A-C c.985A>C p.N329H Missense 8/9 - 5
10-87961077-A-G c.985A>G p.N329D Missense 8/9 - 1
10-87961077-A-T c.985A>T p.N329Y Missense 8/9 - 1
10-87961075-CA-C c.986del p.N329Ifs*15 Frameshift 8/9 - 2
10-87961078-A-G c.986A>G p.N329S Missense 8/9 - 1
10-87961078-A-T c.986A>T p.N329I Missense 8/9 - 4
10-87961075-CAAAT-C c.987_990del p.N329Kfs*14 Frameshift 8/9 - 20
10-87961078-A-AT c.987dup p.K330* Nonsense 8/9 - 3
10-87961079-T-A c.987T>A p.N329K Missense 8/9 - 2
10-87961079-T-G c.987T>G p.N329K Missense 8/9 - 1
10-87961080-AAA-GAC c.988_990delinsGAC p.K330D Missense 8/9 - 1
10-87961080-AA-GC c.988_989delinsGC p.K330A Missense 8/9 - 2
10-87961080-A-G c.988A>G p.K330E Missense 8/9 - 2
10-87961080-A-T c.988A>T p.K330* Nonsense 8/9 - 4
10-87961079-TAA-T c.989_990del p.K330Rfs*12 Frameshift 8/9 - 3
10-87961081-A-C c.989A>C p.K330T Missense 8/9 - 1
10-87961081-A-G c.989A>G p.K330R Missense 8/9 - 3
10-87961081-A-T c.989A>T p.K330I Missense 8/9 - 1
10-87961079-TA-T c.990del p.D331Tfs*13 Frameshift 8/9 - 2
10-87961079-T-TA c.990dup p.D331Rfs*12 Frameshift 8/9 - 1
10-87961082-A-AT c.990_991insT p.D331* Nonsense 8/9 - 1
10-87961082-A-C c.990A>C p.K330N Missense 8/9 - 2
10-87961082-A-G c.990A>G p.K330= Synonymous 8/9 - 1
10-87961082-A-T c.990A>T p.K330N Missense 8/9 - 2
10-87961081-AAG-A c.991_992del p.D331Qfs*11 Frameshift 8/9 - 1
10-87961083-G-A c.991G>A p.D331N Missense 8/9 - 2
10-87961083-G-C c.991G>C p.D331H Missense 8/9 - 7
10-87961083-G-T c.991G>T p.D331Y Missense 8/9 - 2
10-87961084-A-C c.992A>C p.D331A Missense 8/9 - 5
10-87961084-A-G c.992A>G p.D331G Missense 8/9 - 17
10-87961085-AC-A c.993del p.D331Efs*13 Frameshift 8/9 - 2
10-87961085-ACAAAGCCAACCGATACTTTTCTCCAAATTTTAAGGTCAGTTAAATTAAACATTTTGTGG-A c.993_1026+25del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 8/9 8/8 1
10-87961086-AAA-GAC c.994_996delinsGAC p.K332D Missense 8/9 - 1
10-87961086-AA-GC c.994_995delinsGC p.K332A Missense 8/9 - 1
10-87961086-A-T c.994A>T p.K332* Nonsense 8/9 - 2
10-87961087-AA-TG c.995_996delinsTG p.K332M Missense 8/9 - 1
10-87961087-A-C c.995A>C p.K332T Missense 8/9 - 1
10-87961087-A-G c.995A>G p.K332R Missense 8/9 - 3
10-87961085-C-CA c.996dup p.A333Sfs*10 Frameshift 8/9 - 2
10-87961088-A-G c.996A>G p.K332= Synonymous 8/9 - 1
10-87961089-AG-A c.997del p.A333Pfs*11 Frameshift 8/9 - 1
10-87961089-G-A c.997G>A p.A333T Missense 8/9 - 1
10-87961089-G-C c.997G>C p.A333P Missense 8/9 - 1
10-87961089-G-T c.997G>T p.A333S Missense 8/9 - 1
10-87961090-C-A c.998C>A p.A333D Missense 8/9 - 1
10-87961090-C-G c.998C>G p.A333G Missense 8/9 - 1
10-87961090-C-T c.998C>T p.A333V Missense 8/9 - 4
10-87961089-GC-G c.999del p.N334Tfs*10 Frameshift 8/9 - 1
10-87961091-C-A c.999C>A p.A333= Synonymous 8/9 - 1
10-87961091-C-CT c.999_1000insT p.N334* Nonsense 8/9 - 3
10-87961091-C-G c.999C>G p.A333= Synonymous 8/9 - 1
10-87961091-C-T c.999C>T p.A333= Synonymous 8/9 - 2
10-87961092-A-C c.1000A>C p.N334H Missense 8/9 - 1
10-87961092-A-G c.1000A>G p.N334D Missense 8/9 - 3
10-87961091-CA-C c.1001del p.N334Tfs*10 Frameshift 8/9 - 1
10-87961093-A-G c.1001A>G p.N334S Missense 8/9 - 2
10-87961094-C-A c.1002C>A p.N334K Missense 8/9 - 6
10-87961094-C-G c.1002C>G p.N334K Missense 8/9 - 7
10-87961094-C-T c.1002C>T p.N334= Synonymous 8/9 - 4
10-87961093-AC-A c.1003del p.R335Dfs*9 Frameshift 8/9 - 3
10-87961095-C-A c.1003C>A p.R335= Synonymous 8/9 - 4
10-87961095-CCGAT-C c.1003_1006del p.R335Tfs*8 Frameshift 8/9 - 1
10-87961095-C-G c.1003C>G p.R335G Missense 8/9 - 5
10-87961095-CGA-GAC c.1003_1005delinsGAC p.R335D Missense 8/9 - 1
10-87961095-CGA-TGG c.1003_1005delinsTGG p.R335W Missense 8/9 - 1
10-87961095-CGA-TGT c.1003_1005delinsTGT p.R335C Missense 8/9 - 1
10-87961095-CG-GC c.1003_1004delinsGC p.R335A Missense 8/9 - 2
10-87961095-CG-GT c.1003_1004delinsGT p.R335V Missense 8/9 - 1
10-87961095-C-T c.1003C>T p.R335* Nonsense 8/9 - 143
10-87961094-CCGATA-C c.1004_1008del p.R335Lfs*6 Frameshift 8/9 - 1
10-87961096-G-A c.1004G>A p.R335Q Missense 8/9 - 17
10-87961096-G-C c.1004G>C p.R335P Missense 8/9 - 2
10-87961096-G-T c.1004G>T p.R335L Missense 8/9 - 13
10-87961097-A-AT c.1006dup p.Y336Lfs*7 Frameshift 8/9 - 1
10-87961098-T-C c.1006T>C p.Y336H Missense 8/9 - 2
10-87961098-T-TA c.1007dup p.Y336* Nonsense 8/9 - 10
10-87961099-A-T c.1007A>T p.Y336F Missense 8/9 - 3
10-87961099-TA-T c.1007del p.Y336Sfs*8 Frameshift 8/9 - 1
10-87961100-AC-A c.1008del p.S338Lfs*6 Frameshift 8/9 - 1
10-87961100-C-A c.1008C>A p.Y336* Nonsense 8/9 - 26
10-87961100-C-G c.1008C>G p.Y336* Nonsense 8/9 - 34
10-87961100-C-T c.1008C>T p.Y336= Synonymous 8/9 - 3
10-87961101-T-A c.1009T>A p.F337I Missense 8/9 - 3
10-87961101-T-C c.1009T>C p.F337L Missense 8/9 - 3
10-87961103-T-A c.1011T>A p.F337L Missense 8/9 - 4
10-87961103-T-G c.1011T>G p.F337L Missense 8/9 - 3
10-87961102-T-C c.1010T>C p.F337S Missense 8/9 - 3
10-87961102-T-G c.1010T>G p.F337C Missense 8/9 - 4
10-87961101-TTTTC-T c.1011_1014del p.S338Qfs*5 Frameshift 8/9 - 1
10-87961103-T-C c.1011T>C p.F337= Synonymous 8/9 - 1
10-87961100-CT-C c.1012del p.S338Lfs*6 Frameshift 8/9 - 13
10-87961104-T-A c.1012T>A p.S338T Missense 8/9 - 4
10-87961104-TC-CT c.1012_1013delinsCT p.S338L Missense 8/9 - 1
10-87961105-C-A c.1013C>A p.S338Y Missense 8/9 - 1
10-87961105-C-G c.1013C>G p.S338C Missense 8/9 - 1
10-87961105-C-T c.1013C>T p.S338F Missense 8/9 - 2
10-87961105-CT-AA c.1013_1014delinsAA p.S338* Nonsense 8/9 - 2
10-87961105-TC-T c.1013del p.S338Ffs*6 Frameshift 8/9 - 1
10-87961105-TCTCCAAATTTTAAGGTCA-T c.1013_1026+4del - SpliceDonorDeletion 8/9 8/8 1
10-87961107-C-G c.1015C>G p.P339A Missense 8/9 - 1
10-87961107-C-T c.1015C>T p.P339S Missense 8/9 - 14
10-87961106-TC-T c.1016del p.P339Qfs*5 Frameshift 8/9 - 2
10-87961108-C-A c.1016C>A p.P339Q Missense 8/9 - 2
10-87961108-CCA-C c.1016_1017del p.P339Qfs*3 Frameshift 8/9 - 1
10-87961108-C-T c.1016C>T p.P339L Missense 8/9 - 10
10-87961109-A-AT c.1017_1018insT p.N340* Nonsense 8/9 - 4
10-87961110-AAT-CAA c.1018_1020delinsCAA p.N340Q Missense 8/9 - 7
10-87961110-A-C c.1018A>C p.N340H Missense 8/9 - 2
10-87961110-A-G c.1018A>G p.N340D Missense 8/9 - 3
10-87961108-CA-C c.1019del p.N340Ifs*4 Frameshift 8/9 - 4
10-87961108-C-CA c.1019dup p.N340Kfs*3 Frameshift 8/9 - 1
10-87961110-AATTTT-A c.1020_1024del p.N340Kfs*19 Frameshift 8/9 - 5
10-87961113-T-A c.1021T>A p.F341I Missense 8/9 - 3
10-87961113-T-C c.1021T>C p.F341L Missense 8/9 - 3
10-87961113-T-G c.1021T>G p.F341V Missense 8/9 - 39
10-87961115-T-A c.1023T>A p.F341L Missense 8/9 - 3
10-87961115-T-G c.1023T>G p.F341L Missense 8/9 - 4
10-87961111-ATT-A c.1022_1023del p.F341* Frameshift 8/9 - 1
10-87961114-T-A c.1022T>A p.F341Y Missense 8/9 - 3
10-87961114-T-C c.1022T>C p.F341S Missense 8/9 - 1
10-87961114-T-G c.1022T>G p.F341C Missense 8/9 - 14
10-87961111-A-AT c.1023dup p.K342* Nonsense 8/9 - 1
10-87961111-AT-A c.1023del p.F341Lfs*3 Frameshift 8/9 - 7
10-87961116-A-G c.1024A>G p.K342E Missense 8/9 - 2
10-87961116-TAAGGTCAGTTAAATTAAACATTTTGTGGGGGTTGTTGACTTGTATGTATGTGATGTGTG-T c.1024_1026+56del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 8/9 8/8 1
10-87961116-TAAGGTCA-T c.1024_1026+4del - SpliceDonorDeletion 8/9 8/8 1
10-87961116-TAAG-T c.1024_1026del p.K342del InFrameDeletion 8/9 - 3
10-87961117-A-C c.1025A>C p.K342T Missense 8/9 - 2
10-87961117-A-G c.1025A>G p.K342R Missense 8/9 - 5
10-87961118-G-A c.1026G>A p.K342= Synonymous 8/9 - 8
10-87961118-G-C c.1026G>C p.K342N Missense 8/9 - 24
10-87961118-G-T c.1026G>T p.K342N Missense 8/9 - 29
10-87961119-G-A c.1026+1G>A - IntronicSNV - 8/8 17
10-87961119-G-C c.1026+1G>C - IntronicSNV - 8/8 9
10-87961119-G-T c.1026+1G>T - IntronicSNV - 8/8 7
10-87961120-GT-G c.1026+2del - IntronicDeletion - 8/8 1
10-87961120-T-A c.1026+2T>A - IntronicSNV - 8/8 1
10-87961120-T-C c.1026+2T>C - IntronicSNV - 8/8 3
10-87961120-T-G c.1026+2T>G - IntronicSNV - 8/8 7
10-87961121-C-A c.1026+3C>A - IntronicSNV - 8/8 1
10-87961121-C-G c.1026+3C>G - IntronicSNV - 8/8 1
10-87961150-T-G c.1026+32T>G - IntronicSNV - 8/8 27
10-87961337-C-T c.1026+219C>T - IntronicSNV - 8/8 8
10-87961655-C-T c.1026+537C>T - IntronicSNV - 8/8 5
10-87962974-T-C c.1026+1856T>C - IntronicSNV - 8/8 1
10-87963585-C-T c.1027-1702C>T - IntronicSNV - 8/8 9
10-87965283-C-G c.1027-4C>G - IntronicSNV - 8/8 1
10-87965285-A-C c.1027-2A>C - IntronicSNV - 8/8 1
10-87965285-A-G c.1027-2A>G - IntronicSNV - 8/8 1
10-87965285-A-AG c.1027dup p.V343Gfs*18 SpliceAcceptorInsertion 9/9 - 1
10-87965285-AG-A c.1027del p.V343* Frameshift 9/9 - 1
10-87965287-G-A c.1027G>A p.V343M Missense 9/9 - 4
10-87965287-G-C c.1027G>C p.V343L Missense 9/9 - 4
10-87965287-G-T c.1027G>T p.V343L Missense 9/9 - 4
10-87965288-T-A c.1028T>A p.V343E Missense 9/9 - 15
10-87965288-T-G c.1028T>G p.V343G Missense 9/9 - 1
10-87965289-G-GT c.1029_1030insT p.K344* Nonsense 9/9 - 2
10-87965290-A-C c.1030A>C p.K344Q Missense 9/9 - 1
10-87965290-A-G c.1030A>G p.K344E Missense 9/9 - 6
10-87965290-A-T c.1030A>T p.K344* Nonsense 9/9 - 1
10-87965288-TGAAGCTGTACTTCACAAAAACAGTA-T c.1031_1055del p.K344Rfs*14 Frameshift 9/9 - 1
10-87965289-GA-G c.1031del p.K344Sfs*8 Frameshift 9/9 - 1
10-87965291-AAGCTGTACTT-A c.1031_1040del p.K344Tfs*5 Frameshift 9/9 - 1
10-87965291-A-G c.1031A>G p.K344R Missense 9/9 - 9
10-87965291-A-T c.1031A>T p.K344M Missense 9/9 - 1
10-87965289-GAAGCTGTACTTCACAA-G c.1032_1047del p.L345Qfs*2 Frameshift 9/9 - 1
10-87965293-C-G c.1033C>G p.L345V Missense 9/9 - 11
10-87965293-CTG-TTT c.1033_1035delinsTTT p.L345F Missense 9/9 - 1
10-87965294-CTGTACTTCACAAAAACA-C c.1034_1050del p.L345Rfs*10 Frameshift 9/9 - 1
10-87965294-T-A c.1034T>A p.L345Q Missense 9/9 - 10
10-87965294-T-C c.1034T>C p.L345P Missense 9/9 - 5
10-87965294-T-G c.1034T>G p.L345R Missense 9/9 - 4
10-87965295-G-A c.1035G>A p.L345= Synonymous 9/9 - 1
10-87965295-TG-T c.1035del p.Y346Tfs*6 Frameshift 9/9 - 2
10-87965296-T-A c.1036T>A p.Y346N Missense 9/9 - 1
10-87965296-T-C c.1036T>C p.Y346H Missense 9/9 - 3
10-87965296-T-G c.1036T>G p.Y346D Missense 9/9 - 8
10-87965296-T-TCTGAATTTTTTTTTATCAAGAGGGATAAAACACCATGAAAATA c.1036_1037insCTGAATTTTTTTTTATCAAGAGGGATAAAACACCATGAAAATA p.Y346Sfs*13 Frameshift 9/9 - 1
10-87965297-A-G c.1037A>G p.Y346C Missense 9/9 - 4
10-87965297-A-T c.1037A>T p.Y346F Missense 9/9 - 1
10-87965298-C-A c.1038C>A p.Y346* Nonsense 9/9 - 9
10-87965298-C-G c.1038C>G p.Y346* Nonsense 9/9 - 16
10-87965298-C-T c.1038C>T p.Y346= Synonymous 9/9 - 1
10-87965299-T-C c.1039T>C p.F347L Missense 9/9 - 17
10-87965299-T-G c.1039T>G p.F347V Missense 9/9 - 3
10-87965301-C-A c.1041C>A p.F347L Missense 9/9 - 15
10-87965301-C-G c.1041C>G p.F347L Missense 9/9 - 15
10-87965298-CT-C c.1040del p.F347Sfs*5 Frameshift 9/9 - 2
10-87965300-TTC-T c.1040_1041del p.F347Yfs*13 Frameshift 9/9 - 1
10-87965302-A-C c.1042A>C p.T348P Missense 9/9 - 3
10-87965302-ACA-GAC c.1042_1044delinsGAC p.T348D Missense 9/9 - 1
10-87965302-A-G c.1042A>G p.T348A Missense 9/9 - 3
10-87965302-A-T c.1042A>T p.T348S Missense 9/9 - 1
10-87965303-C-A c.1043C>A p.T348K Missense 9/9 - 2
10-87965303-C-G c.1043C>G p.T348R Missense 9/9 - 1
10-87965303-C-T c.1043C>T p.T348I Missense 9/9 - 7
10-87965306-A-G c.1046A>G p.K349R Missense 9/9 - 4
10-87965303-CA-C c.1048del p.T350Qfs*2 Frameshift 9/9 - 1
10-87965303-C-CA c.1048dup p.T350Nfs*11 Frameshift 9/9 - 3
10-87965308-A-G c.1048A>G p.T350A Missense 9/9 - 2
10-87965309-C-A c.1049C>A p.T350K Missense 9/9 - 1
10-87965309-C-T c.1049C>T p.T350I Missense 9/9 - 1
10-87965311-G-A c.1051G>A p.V351I Missense 9/9 - 1
10-87965311-GTA-TAT c.1051_1053delinsTAT p.V351Y Missense 9/9 - 1
10-87965309-CAGT-C c.1052_1054del p.V351del InFrameDeletion 9/9 - 3
10-87965312-T-C c.1052T>C p.V351A Missense 9/9 - 1
10-87965314-G-A c.1054G>A p.E352K Missense 9/9 - 2
10-87965314-G-T c.1054G>T p.E352* Nonsense 9/9 - 3
10-87965315-A-G c.1055A>G p.E352G Missense 9/9 - 4
10-87965315-AG-A c.1057del p.E353Sfs*13 Frameshift 9/9 - 1
10-87965317-G-A c.1057G>A p.E353K Missense 9/9 - 1
10-87965317-G-C c.1057G>C p.E353Q Missense 9/9 - 1
10-87965318-A-G c.1058A>G p.E353G Missense 9/9 - 3
10-87965319-G-C c.1059G>C p.E353D Missense 9/9 - 1
10-87965319-G-T c.1059G>T p.E353D Missense 9/9 - 1
10-87965320-CC-TG c.1060_1061delinsTG p.P354W Missense 9/9 - 1
10-87965320-C-T c.1060C>T p.P354S Missense 9/9 - 1
10-87965321-C-A c.1061C>A p.P354Q Missense 9/9 - 15
10-87965321-C-G c.1061C>G p.P354R Missense 9/9 - 1
10-87965321-C-T c.1061C>T p.P354L Missense 9/9 - 5
10-87965322-G-A c.1062G>A p.P354= Synonymous 9/9 - 3
10-87965322-G-C c.1062G>C p.P354= Synonymous 9/9 - 2
10-87965322-G-T c.1062G>T p.P354= Synonymous 9/9 - 2
10-87965323-T-G c.1063T>G p.S355A Missense 9/9 - 1
10-87965324-C-T c.1064C>T p.S355L Missense 9/9 - 2
10-87965326-A-C c.1066A>C p.N356H Missense 9/9 - 2
10-87965326-A-G c.1066A>G p.N356D Missense 9/9 - 9
10-87965326-A-T c.1066A>T p.N356Y Missense 9/9 - 1
10-87965324-C-CA c.1067dup p.N356Kfs*5 Frameshift 9/9 - 3
10-87965329-C-A c.1069C>A p.P357T Missense 9/9 - 4
10-87965329-C-T c.1069C>T p.P357S Missense 9/9 - 2
10-87965330-C-A c.1070C>A p.P357Q Missense 9/9 - 1
10-87965330-C-T c.1070C>T p.P357L Missense 9/9 - 1
10-87965331-CA-C c.1071del p.E358Rfs*8 Frameshift 9/9 - 1
10-87965334-G-A c.1074G>A p.E358= Synonymous 9/9 - 2
10-87965334-G-C c.1074G>C p.E358D Missense 9/9 - 4
10-87965334-G-T c.1074G>T p.E358D Missense 9/9 - 3
10-87965335-G-T c.1075G>T p.A359S Missense 9/9 - 1
10-87965336-C-T c.1076C>T p.A359V Missense 9/9 - 2
10-87965338-A-G c.1078A>G p.S360G Missense 9/9 - 5
10-87965338-AG-CT c.1078_1079inv p.S360L Missense 9/9 - 1
10-87965338-AG-GC c.1078_1079delinsGC p.S360A Missense 9/9 - 1
10-87965338-AG-TT c.1078_1079delinsTT p.S360F Missense 9/9 - 1
10-87965339-G-A c.1079G>A p.S360N Missense 9/9 - 1
10-87965339-G-C c.1079G>C p.S360T Missense 9/9 - 1
10-87965341-AG-GA c.1081_1082delinsGA p.S361D Missense 9/9 - 1
10-87965341-AG-GC c.1081_1082delinsGC p.S361A Missense 9/9 - 2
10-87965341-AG-TT c.1081_1082delinsTT p.S361F Missense 9/9 - 1
10-87965341-AGT-TGA c.1081_1083delinsTGA p.S361* Nonsense 9/9 - 1
10-87965342-G-A c.1082G>A p.S361N Missense 9/9 - 5
10-87965342-G-C c.1082G>C p.S361T Missense 9/9 - 1
10-87965342-G-T c.1082G>T p.S361I Missense 9/9 - 1
10-87965341-A-C c.1081A>C p.S361R Missense 9/9 - 2
10-87965343-T-A c.1083T>A p.S361R Missense 9/9 - 1
10-87965343-T-C c.1083T>C p.S361= Synonymous 9/9 - 1
10-87965343-T-G c.1083T>G p.S361R Missense 9/9 - 1
10-87965344-T-G c.1084T>G p.S362A Missense 9/9 - 3
10-87965345-C-G c.1085C>G p.S362* Nonsense 9/9 - 1
10-87965345-C-T c.1085C>T p.S362L Missense 9/9 - 3
10-87965346-A-C c.1086A>C p.S362= Synonymous 9/9 - 1
10-87965346-A-G c.1086A>G p.S362= Synonymous 9/9 - 1
10-87965346-A-T c.1086A>T p.S362= Synonymous 9/9 - 1
10-87965347-A-G c.1087A>G p.T363A Missense 9/9 - 2
10-87965347-A-AC c.1088dup p.S364Ffs*7 Frameshift 9/9 - 1
10-87965348-C-A c.1088C>A p.T363N Missense 9/9 - 3
10-87965348-C-T c.1088C>T p.T363I Missense 9/9 - 2
10-87965350-T-C c.1090T>C p.S364P Missense 9/9 - 2
10-87965350-T-G c.1090T>G p.S364A Missense 9/9 - 2
10-87965351-C-A c.1091C>A p.S364Y Missense 9/9 - 4
10-87965351-C-G c.1091C>G p.S364C Missense 9/9 - 5
10-87965352-T-A c.1092T>A p.S364= Synonymous 9/9 - 2
10-87965352-T-C c.1092T>C p.S364= Synonymous 9/9 - 2
10-87965352-T-G c.1092T>G p.S364= Synonymous 9/9 - 2
10-87965353-G-A c.1093G>A p.V365I Missense 9/9 - 9
10-87965354-GTAACACC-G c.1094_1100del p.V365Efs*49 Frameshift 9/9 - 1
10-87965354-T-A c.1094T>A p.V365E Missense 9/9 - 2
10-87965355-A-C c.1095A>C p.V365= Synonymous 9/9 - 1
10-87965355-A-G c.1095A>G p.V365= Synonymous 9/9 - 1
10-87965355-A-T c.1095A>T p.V365= Synonymous 9/9 - 1
10-87965354-TA-T c.1096del p.T366Hfs*50 Frameshift 9/9 - 2
10-87965356-A-C c.1096A>C p.T366P Missense 9/9 - 1
10-87965356-ACA-GAC c.1096_1098delinsGAC p.T366D Missense 9/9 - 1
10-87965356-ACA-TGG c.1096_1098delinsTGG p.T366W Missense 9/9 - 1
10-87965356-A-G c.1096A>G p.T366A Missense 9/9 - 16
10-87965356-A-T c.1096A>T p.T366S Missense 9/9 - 1
10-87965357-CA-TG c.1097_1098inv p.T366M Missense 9/9 - 1
10-87965357-C-G c.1097C>G p.T366R Missense 9/9 - 1
10-87965359-C-T c.1099C>T p.P367S Missense 9/9 - 1
10-87965360-C-G c.1100C>G p.P367R Missense 9/9 - 1
10-87965361-CA-C c.1101del p.D368Mfs*48 Frameshift 9/9 - 1
10-87965364-T-A c.1104T>A p.D368E Missense 9/9 - 2
10-87965364-T-C c.1104T>C p.D368= Synonymous 9/9 - 7
10-87965365-G-A c.1105G>A p.V369I Missense 9/9 - 3
10-87965366-T-A c.1106T>A p.V369D Missense 9/9 - 1
10-87965366-T-C c.1106T>C p.V369A Missense 9/9 - 3
10-87965366-T-G c.1106T>G p.V369G Missense 9/9 - 2
10-87965365-G-GT c.1107dup p.S370* Nonsense 9/9 - 2
10-87965365-GT-G c.1107del p.S370Vfs*46 Frameshift 9/9 - 1
10-87965367-T-TA c.1108dup p.S370Kfs*2 Frameshift 9/9 - 1
10-87965368-AG-CC c.1108_1109delinsCC p.S370P Missense 9/9 - 1
10-87965368-AG-GA c.1108_1109delinsGA p.S370D Missense 9/9 - 2
10-87965368-AG-GC c.1108_1109delinsGC p.S370A Missense 9/9 - 16
10-87965368-AG-TA c.1108_1109delinsTA p.S370Y Missense 9/9 - 2
10-87965367-TAGTG-T c.1109_1112del p.S370Tfs*45 Frameshift 9/9 - 2
10-87965369-G-A c.1109G>A p.S370N Missense 9/9 - 2
10-87965369-G-GT c.1110dup p.D371* Nonsense 9/9 - 3
10-87965371-G-A c.1111G>A p.D371N Missense 9/9 - 3
10-87965371-G-T c.1111G>T p.D371Y Missense 9/9 - 1
10-87965372-A-G c.1112A>G p.D371G Missense 9/9 - 1
10-87965373-AC-A c.1113del p.D371Efs*45 Frameshift 9/9 - 4
10-87965373-C-G c.1113C>G p.D371E Missense 9/9 - 1
10-87965374-A-C c.1114A>C p.N372H Missense 9/9 - 1
10-87965374-A-G c.1114A>G p.N372D Missense 9/9 - 4
10-87965374-CAAT-C c.1114_1116del p.N372del InFrameDeletion 9/9 - 1
10-87965373-CA-C c.1115del p.N372Mfs*44 Frameshift 9/9 - 1
10-87965375-A-G c.1115A>G p.N372S Missense 9/9 - 3
10-87965375-AT-TG c.1115_1116delinsTG p.N372M Missense 9/9 - 1
10-87965373-CAATG-C c.1116_1119del p.E373Lfs*42 Frameshift 9/9 - 3
10-87965376-T-C c.1116T>C p.N372= Synonymous 9/9 - 1
10-87965377-G-A c.1117G>A p.E373K Missense 9/9 - 8
10-87965377-G-T c.1117G>T p.E373* Nonsense 9/9 - 2
10-87965378-A-G c.1118A>G p.E373G Missense 9/9 - 1
10-87965378-A-T c.1118A>T p.E373V Missense 9/9 - 1
10-87965377-GA-G c.1119del p.E373Dfs*43 Frameshift 9/9 - 1
10-87965380-C-A c.1120C>A p.P374T Missense 9/9 - 2
10-87965380-C-G c.1120C>G p.P374A Missense 9/9 - 1
10-87965379-AC-A c.1121del p.P374Lfs*42 Frameshift 9/9 - 1
10-87965381-C-T c.1121C>T p.P374L Missense 9/9 - 2
10-87965383-G-A c.1123G>A p.D375N Missense 9/9 - 7
10-87965383-GAT-TAA c.1123_1125delinsTAA p.D375* Nonsense 9/9 - 1
10-87965383-TG-T c.1123del p.D375Ifs*41 Frameshift 9/9 - 1
10-87965384-A-G c.1124A>G p.D375G Missense 9/9 - 4
10-87965385-T-C c.1125T>C p.D375= Synonymous 9/9 - 1
10-87965385-T-TA c.1125_1126insA p.H376Tfs*3 Frameshift 9/9 - 1
10-87965386-C-A c.1126C>A p.H376N Missense 9/9 - 2
10-87965386-CA-GC c.1126_1127delinsGC p.H376A Missense 9/9 - 1
10-87965386-C-T c.1126C>T p.H376Y Missense 9/9 - 1
10-87965387-A-AAT c.1127_1128insAT p.H376Qfs*41 Frameshift 9/9 - 2
10-87965387-A-G c.1127A>G p.H376R Missense 9/9 - 4
10-87965389-TA-CC c.1129_1130delinsCC p.Y377P Missense 9/9 - 1
10-87965389-TTATA-T c.1129_1132del p.Y377Dfs*38 Frameshift 9/9 - 2
10-87965390-A-T c.1130A>T p.Y377F Missense 9/9 - 2
10-87965390-A-AT c.1131dup p.R378* Nonsense 9/9 - 1
10-87965391-T-C c.1131T>C p.Y377= Synonymous 9/9 - 1
10-87965392-A-ATGT c.1132_1133insTGT p.R378delinsM* Frameshift 9/9 - 1
10-87965392-A-G c.1132A>G p.R378G Missense 9/9 - 2
10-87965392-AG-CA c.1132_1133delinsCA p.R378Q Missense 9/9 - 1
10-87965392-AG-GC c.1132_1133delinsGC p.R378A Missense 9/9 - 1
10-87965389-TATAG-T c.1133_1136del p.R378Ifs*37 Frameshift 9/9 - 8
10-87965391-TAG-T c.1133_1134del p.R378Ifs*3 Frameshift 9/9 - 1
10-87965393-AG-A c.1133del p.R378Nfs*38 Frameshift 9/9 - 1
10-87965393-G-A c.1133G>A p.R378K Missense 9/9 - 1
10-87965393-G-T c.1133G>T p.R378I Missense 9/9 - 1
10-87965394-A-G c.1134A>G p.R378= Synonymous 9/9 - 1
10-87965395-T-A c.1135T>A p.Y379N Missense 9/9 - 1
10-87965395-T-G c.1135T>G p.Y379D Missense 9/9 - 1
10-87965396-A-G c.1136A>G p.Y379C Missense 9/9 - 9
10-87965397-ATTCT-A c.1137_1140del p.Y379* Frameshift 9/9 - 1
10-87965397-T-C c.1137T>C p.Y379= Synonymous 9/9 - 2
10-87965397-T-G c.1137T>G p.Y379* Nonsense 9/9 - 1
10-87965398-T-A c.1138T>A p.S380T Missense 9/9 - 3
10-87965398-T-C c.1138T>C p.S380P Missense 9/9 - 1
10-87965398-TC-GA c.1138_1139inv p.S380D Missense 9/9 - 5
10-87965398-TCT-GAG c.1138_1140delinsGAG p.S380E Missense 9/9 - 6
10-87965398-T-G c.1138T>G p.S380A Missense 9/9 - 44
10-87965399-C-G c.1139C>G p.S380C Missense 9/9 - 1
10-87965399-C-T c.1139C>T p.S380F Missense 9/9 - 1
10-87965402-A-T c.1142A>T p.D381V Missense 9/9 - 2
10-87965403-C-T c.1143C>T p.D381= Synonymous 9/9 - 3
10-87965404-ACC-GAG c.1144_1146delinsGAG p.T382E Missense 9/9 - 4
10-87965404-AC-GA c.1144_1145delinsGA p.T382D Missense 9/9 - 2
10-87965404-A-G c.1144A>G p.T382A Missense 9/9 - 39
10-87965404-A-T c.1144A>T p.T382S Missense 9/9 - 4
10-87965405-C-G c.1145C>G p.T382S Missense 9/9 - 2
10-87965405-C-T c.1145C>T p.T382I Missense 9/9 - 1
10-87965406-C-A c.1146C>A p.T382= Synonymous 9/9 - 1
10-87965406-C-G c.1146C>G p.T382= Synonymous 9/9 - 1
10-87965406-C-T c.1146C>T p.T382= Synonymous 9/9 - 1
10-87965407-A-C c.1147A>C p.T383P Missense 9/9 - 1
10-87965407-AC-GA c.1147_1148delinsGA p.T383D Missense 9/9 - 3
10-87965407-ACT-GAG c.1147_1149delinsGAG p.T383E Missense 9/9 - 6
10-87965407-A-G c.1147A>G p.T383A Missense 9/9 - 43
10-87965408-C-A c.1148C>A p.T383N Missense 9/9 - 1
10-87965408-C-T c.1148C>T p.T383I Missense 9/9 - 1
10-87965409-T-A c.1149T>A p.T383= Synonymous 9/9 - 2
10-87965409-T-C c.1149T>C p.T383= Synonymous 9/9 - 2
10-87965409-T-G c.1149T>G p.T383= Synonymous 9/9 - 2
10-87965410-G-A c.1150G>A p.D384N Missense 9/9 - 2
10-87965410-G-GA c.1151dup p.D384Efs*3 Frameshift 9/9 - 1
10-87965411-A-G c.1151A>G p.D384G Missense 9/9 - 1
10-87965411-A-T c.1151A>T p.D384V Missense 9/9 - 3
10-87965411-GA-G c.1151del p.D384Afs*32 Frameshift 9/9 - 2
10-87965412-C-A c.1152C>A p.D384E Missense 9/9 - 1
10-87965413-TC-CG c.1153_1154delinsCG p.S385R Missense 9/9 - 1
10-87965413-TC-GA c.1153_1154inv p.S385D Missense 9/9 - 1
10-87965413-TC-GG c.1153_1154delinsGG p.S385G Missense 9/9 - 1
10-87965413-TCT-GAG c.1153_1155delinsGAG p.S385E Missense 9/9 - 4
10-87965413-T-G c.1153T>G p.S385A Missense 9/9 - 27
10-87965411-ACT-A c.1154_1155del p.S385* Frameshift 9/9 - 1
10-87965415-T-A c.1155T>A p.S385= Synonymous 9/9 - 1
10-87965415-T-C c.1155T>C p.S385= Synonymous 9/9 - 2
10-87965415-T-G c.1155T>G p.S385= Synonymous 9/9 - 1
10-87965416-G-A c.1156G>A p.D386N Missense 9/9 - 1
10-87965416-G-T c.1156G>T p.D386Y Missense 9/9 - 1
10-87965419-C-G c.1159C>G p.P387A Missense 9/9 - 1
10-87965419-C-T c.1159C>T p.P387S Missense 9/9 - 2
10-87965420-C-T c.1160C>T p.P387L Missense 9/9 - 3
10-87965421-A-C c.1161A>C p.P387= Synonymous 9/9 - 2
10-87965421-A-G c.1161A>G p.P387= Synonymous 9/9 - 3
10-87965422-G-A c.1162G>A p.E388K Missense 9/9 - 1
10-87965422-GA-AG c.1162_1163delinsAG p.E388R Missense 9/9 - 1
10-87965422-G-C c.1162G>C p.E388Q Missense 9/9 - 2
10-87965423-A-C c.1163A>C p.E388A Missense 9/9 - 1
10-87965423-A-T c.1163A>T p.E388V Missense 9/9 - 1
10-87965424-G-C c.1164G>C p.E388D Missense 9/9 - 1
10-87965425-AA-GC c.1165_1166delinsGC p.N389A Missense 9/9 - 1
10-87965425-A-G c.1165A>G p.N389D Missense 9/9 - 1
10-87965426-A-C c.1166A>C p.N389T Missense 9/9 - 2
10-87965427-T-C c.1167T>C p.N389= Synonymous 9/9 - 5
10-87965427-T-G c.1167T>G p.N389K Missense 9/9 - 1
10-87965428-G-T c.1168G>T p.E390* Nonsense 9/9 - 1
10-87965429-A-C c.1169A>C p.E390A Missense 9/9 - 2
10-87965430-A-G c.1170A>G p.E390= Synonymous 9/9 - 1
10-87965430-A-T c.1170A>T p.E390D Missense 9/9 - 1
10-87965431-C-G c.1171C>G p.P391A Missense 9/9 - 1
10-87965431-C-T c.1171C>T p.P391S Missense 9/9 - 9
10-87965432-C-A c.1172C>A p.P391H Missense 9/9 - 2
10-87965432-C-T c.1172C>T p.P391L Missense 9/9 - 5
10-87965433-T-G c.1173T>G p.P391= Synonymous 9/9 - 1
10-87965434-T-G c.1174T>G p.F392V Missense 9/9 - 1
10-87965434-TT-GC c.1174_1175delinsGC p.F392A Missense 9/9 - 1
10-87965435-T-C c.1175T>C p.F392S Missense 9/9 - 1
10-87965432-CT-C c.1176del p.F392Lfs*24 Frameshift 9/9 - 1
10-87965436-T-C c.1176T>C p.F392= Synonymous 9/9 - 1
10-87965437-G-A c.1177G>A p.D393N Missense 9/9 - 2
10-87965437-GAT-TAA c.1177_1179delinsTAA p.D393* Nonsense 9/9 - 1
10-87965437-G-T c.1177G>T p.D393Y Missense 9/9 - 3
10-87965438-A-C c.1178A>C p.D393A Missense 9/9 - 3
10-87965438-A-G c.1178A>G p.D393G Missense 9/9 - 1
10-87965435-TTGA-T c.1179_1181del p.D393del InFrameDeletion 9/9 - 3
10-87965440-G-A c.1180G>A p.E394K Missense 9/9 - 12
10-87965441-A-C c.1181A>C p.E394A Missense 9/9 - 1
10-87965442-A-G c.1182A>G p.E394= Synonymous 9/9 - 2
10-87965443-G-A c.1183G>A p.D395N Missense 9/9 - 1
10-87965443-G-T c.1183G>T p.D395Y Missense 9/9 - 1
10-87965444-A-C c.1184A>C p.D395A Missense 9/9 - 3
10-87965444-A-G c.1184A>G p.D395G Missense 9/9 - 1
10-87965445-T-A c.1185T>A p.D395E Missense 9/9 - 1
10-87965443-GATCAGC-G c.1186_1191del p.Q396_H397del InFrameDeletion 9/9 - 1
10-87965446-CA-GC c.1186_1187delinsGC p.Q396A Missense 9/9 - 1
10-87965446-C-G c.1186C>G p.Q396E Missense 9/9 - 2
10-87965446-C-T c.1186C>T p.Q396* Nonsense 9/9 - 1
10-87965447-A-C c.1187A>C p.Q396P Missense 9/9 - 1
10-87965447-A-G c.1187A>G p.Q396R Missense 9/9 - 2
10-87965447-CA-C c.1187del p.Q396Rfs*20 Frameshift 9/9 - 1
10-87965448-G-A c.1188G>A p.Q396= Synonymous 9/9 - 1
10-87965449-CA-GC c.1189_1190delinsGC p.H397A Missense 9/9 - 1
10-87965449-C-T c.1189C>T p.H397Y Missense 9/9 - 8
10-87965450-A-G c.1190A>G p.H397R Missense 9/9 - 5
10-87965450-A-T c.1190A>T p.H397L Missense 9/9 - 1
10-87965451-T-A c.1191T>A p.H397Q Missense 9/9 - 2
10-87965451-T-G c.1191T>G p.H397Q Missense 9/9 - 2
10-87965452-A-C c.1192A>C p.T398P Missense 9/9 - 2
10-87965452-ACA-GAC c.1192_1194delinsGAC p.T398D Missense 9/9 - 1
10-87965452-AC-CA c.1192_1193delinsCA p.T398Q Missense 9/9 - 1
10-87965452-AC-GA c.1192_1193delinsGA p.T398E Missense 9/9 - 1
10-87965452-A-G c.1192A>G p.T398A Missense 9/9 - 5
10-87965452-A-T c.1192A>T p.T398S Missense 9/9 - 6
10-87965453-C-A c.1193C>A p.T398K Missense 9/9 - 1
10-87965453-CA-AC c.1193_1194delinsAC p.T398N Missense 9/9 - 1
10-87965453-C-T c.1193C>T p.T398I Missense 9/9 - 1
10-87965454-A-C c.1194A>C p.T398= Synonymous 9/9 - 1
10-87965454-A-T c.1194A>T p.T398= Synonymous 9/9 - 1
10-87965455-CA-GC c.1195_1196delinsGC p.Q399A Missense 9/9 - 1
10-87965455-C-G c.1195C>G p.Q399E Missense 9/9 - 1
10-87965455-C-T c.1195C>T p.Q399* Nonsense 9/9 - 4
10-87965456-A-C c.1196A>C p.Q399P Missense 9/9 - 1
10-87965456-A-G c.1196A>G p.Q399R Missense 9/9 - 1
10-87965457-A-C c.1197A>C p.Q399H Missense 9/9 - 3
10-87965457-A-G c.1197A>G p.Q399= Synonymous 9/9 - 3
10-87965457-A-T c.1197A>T p.Q399H Missense 9/9 - 4
10-87965458-A-G c.1198A>G p.I400V Missense 9/9 - 5
10-87965458-AT-GC c.1198_1199delinsGC p.I400A Missense 9/9 - 1
10-87965459-T-C c.1199T>C p.I400T Missense 9/9 - 1
10-87965461-AC-GG c.1201_1202delinsGG p.T401G Missense 9/9 - 1
10-87965461-A-G c.1201A>G p.T401A Missense 9/9 - 1
10-87965462-C-T c.1202C>T p.T401I Missense 9/9 - 8
10-87965463-A-G c.1203A>G p.T401= Synonymous 9/9 - 1
10-87965464-AA-GC c.1204_1205delinsGC p.K402A Missense 9/9 - 1
10-87965464-A-C c.1204A>C p.K402Q Missense 9/9 - 1
10-87965464-A-G c.1204A>G p.K402E Missense 9/9 - 3
10-87965465-A-C c.1205A>C p.K402T Missense 9/9 - 1
10-87965465-A-G c.1205A>G p.K402R Missense 9/9 - 2
10-87965466-A-C c.1206A>C p.K402N Missense 9/9 - 5
10-87965466-A-G c.1206A>G p.K402= Synonymous 9/9 - 1
10-87965466-A-T c.1206A>T p.K402N Missense 9/9 - 3
10-87965468-T-C c.1208T>C p.V403A Missense 9/9 - 1
10-87965469-C-G c.1209C>G p.V403= Synonymous 9/9 - 1
10-87965469-C-T c.1209C>T p.V403= Synonymous 9/9 - 1
10-87965470-T-G c.1210T>G p.*404Gext*8 Missense 9/9 - 1
10-87965471-G-A c.1211G>A p.*404= Synonymous 9/9 - 1
10-87965471-G-C c.1211G>C p.*404Sext*8 Missense 9/9 - 3
10-87965471-G-T c.1211G>T p.*404Lext*8 Missense 9/9 - 2
10-87965471-GA-G c.*1del - CdsStopDeletion 9/9 - 1
10-87965537-T-C c.*65T>C - 3-UTRSNV 9/9 - 1
10-87965547-T-A c.*75T>A - 3-UTRSNV 9/9 - 1
10-87965697-T-G c.*225T>G - 3-UTRSNV 9/9 - 1
10-87966238-G-A c.*766G>A - 3-UTRSNV 9/9 - 1
10-87966624-C-T c.*1152C>T - 3-UTRSNV 9/9 - 1
10-87966867-C-A c.*1395C>A - 3-UTRSNV 9/9 - 1
10-87966932-A-T c.*1460A>T - 3-UTRSNV 9/9 - 1
10-87966971-C-T c.*1499C>T - 3-UTRSNV 9/9 - 1
10-87966988-T-C c.*1516T>C - 3-UTRSNV 9/9 - 35
10-87967037-C-A c.*1565C>A - 3-UTRSNV 9/9 - 1
10-87967037-C-G c.*1565C>G - 3-UTRSNV 9/9 - 1
10-87967055-G-A c.*1583G>A - 3-UTRSNV 9/9 - 1
10-87967217-G-A c.*1745G>A - 3-UTRSNV 9/9 - 1
10-87967657-C-T c.*2185C>T - 3-UTRSNV 9/9 - 12
10-87967695-G-T c.*2223G>T - 3-UTRSNV 9/9 - 1
10-87968299-G-T c.*2827G>T - 3-UTRSNV 9/9 - 1
10-87968911-G-A c.*3439G>A - IntergenicSNV 9/9 - 1
10-87968911-G-T c.*3439G>T - IntergenicSNV 9/9 - 1