PTPN11

PTPN11 protein tyrosine phosphatase non-receptor type 11

Annotation transcript: NM_002834.5

8614 unique variant annotations were identified in 3189 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-112856826-G-A c.-90G>A - 5-UTRSNV 1/16 - 1
12-112856917-T-G c.2T>G p.M1? Missense 1/16 - 1
12-112856919-A-G c.4A>G p.T2A Missense 1/16 - 3
12-112856920-C-T c.5C>T p.T2I Missense 1/16 - 15
12-112856921-A-C c.6A>C p.T2= Synonymous 1/16 - 2
12-112856921-A-G c.6A>G p.T2= Synonymous 1/16 - 2
12-112856921-A-T c.6A>T p.T2= Synonymous 1/16 - 2
12-112856923-C-A c.8C>A p.S3* Nonsense 1/16 - 1
12-112856923-C-T c.8C>T p.S3L Missense 1/16 - 1
12-112856924-G-A c.9G>A p.S3= Synonymous 1/16 - 2
12-112856924-G-C c.9G>C p.S3= Synonymous 1/16 - 1
12-112856924-G-T c.9G>T p.S3= Synonymous 1/16 - 1
12-112856925-C-G c.10C>G p.R4G Missense 1/16 - 2
12-112856925-C-T c.10C>T p.R4W Missense 1/16 - 1
12-112856931-T-G c.14+2T>G - IntronicSNV - 1/15 2
12-112856950-C-A c.14+21C>A - IntronicSNV - 1/15 1
12-112856954-G-C c.14+25G>C - IntronicSNV - 1/15 2
12-112856983-C-A c.14+54C>A - IntronicSNV - 1/15 1
12-112862524-CT-C c.14+5605del - IntronicDeletion - 1/15 1
12-112863557-A-G c.14+6628A>G - IntronicSNV - 1/15 1
12-112865692-C-T c.14+8763C>T - IntronicSNV - 1/15 1
12-112865800-T-C c.14+8871T>C - IntronicSNV - 1/15 3
12-112866573-C-T c.14+9644C>T - IntronicSNV - 1/15 1
12-112867379-A-G c.14+10450A>G - IntronicSNV - 1/15 1
12-112867379-A-T c.14+10450A>T - IntronicSNV - 1/15 1
12-112869711-GA-G c.14+12790del - IntronicDeletion - 1/15 1
12-112871372-A-G c.15-12708A>G - IntronicSNV - 1/15 22
12-112876736-G-GT c.15-7339dup - IntronicInsertion - 1/15 1
12-112877304-G-A c.15-6776G>A - IntronicSNV - 1/15 1
12-112877304-G-C c.15-6776G>C - IntronicSNV - 1/15 1
12-112877588-T-A c.15-6492T>A - IntronicSNV - 1/15 1
12-112877599-A-AC c.15-6480dup - IntronicInsertion - 1/15 1
12-112877600-C-A c.15-6480C>A - IntronicSNV - 1/15 2
12-112881309-T-C c.15-2771T>C - IntronicSNV - 1/15 1
12-112881342-G-A c.15-2738G>A - IntronicSNV - 1/15 1
12-112881996-A-G c.15-2084A>G - IntronicSNV - 1/15 1
12-112882859-G-A c.15-1221G>A - IntronicSNV - 1/15 1
12-112883476-G-A c.15-604G>A - IntronicSNV - 1/15 5
12-112883476-G-C c.15-604G>C - IntronicSNV - 1/15 5
12-112883476-G-T c.15-604G>T - IntronicSNV - 1/15 5
12-112884082-G-A c.17G>A p.W6* Nonsense 2/16 - 1
12-112884083-G-A c.18G>A p.W6* Nonsense 2/16 - 1
12-112884084-GTTT-G c.19_21del p.F7del InFrameDeletion 2/16 - 1
12-112884084-T-G c.19T>G p.F7V Missense 2/16 - 1
12-112884087-C-T c.22C>T p.H8Y Missense 2/16 - 6
12-112884089-C-T c.24C>T p.H8= Synonymous 2/16 - 1
12-112884091-C-T c.26C>T p.P9L Missense 2/16 - 1
12-112884093-AA-CC c.28_29delinsCC p.N10P Missense 2/16 - 1
12-112884093-AA-CT c.28_29delinsCT p.N10L Missense 2/16 - 1
12-112884093-AA-GC c.28_29delinsGC p.N10A Missense 2/16 - 2
12-112884093-AA-GG c.28_29delinsGG p.N10G Missense 2/16 - 1
12-112884093-AA-GT c.28_29delinsGT p.N10V Missense 2/16 - 1
12-112884093-AAT-CAA c.28_30delinsCAA p.N10Q Missense 2/16 - 1
12-112884093-AA-TG c.28_29delinsTG p.N10C Missense 2/16 - 1
12-112884093-AAT-GAG c.28_30delinsGAG p.N10E Missense 2/16 - 1
12-112884093-AA-TT c.28_29inv p.N10F Missense 2/16 - 1
12-112884093-AAT-TGG c.28_30delinsTGG p.N10W Missense 2/16 - 1
12-112884093-A-C c.28A>C p.N10H Missense 2/16 - 1
12-112884093-A-G c.28A>G p.N10D Missense 2/16 - 3
12-112884093-A-T c.28A>T p.N10Y Missense 2/16 - 1
12-112884094-A-C c.29A>C p.N10T Missense 2/16 - 2
12-112884094-A-G c.29A>G p.N10S Missense 2/16 - 2
12-112884094-A-T c.29A>T p.N10I Missense 2/16 - 1
12-112884094-AT-GG c.29_30delinsGG p.N10R Missense 2/16 - 1
12-112884094-AT-TG c.29_30delinsTG p.N10M Missense 2/16 - 1
12-112884095-T-A c.30T>A p.N10K Missense 2/16 - 1
12-112884095-T-C c.30T>C p.N10= Synonymous 2/16 - 1
12-112884095-T-G c.30T>G p.N10K Missense 2/16 - 1
12-112884096-A-C c.31A>C p.I11L Missense 2/16 - 1
12-112884096-A-G c.31A>G p.I11V Missense 2/16 - 4
12-112884096-A-T c.31A>T p.I11F Missense 2/16 - 3
12-112884096-AT-CA c.31_32delinsCA p.I11H Missense 2/16 - 1
12-112884096-AT-CC c.31_32delinsCC p.I11P Missense 2/16 - 1
12-112884096-ATC-CAA c.31_33delinsCAA p.I11Q Missense 2/16 - 1
12-112884096-ATC-GAG c.31_33delinsGAG p.I11E Missense 2/16 - 1
12-112884096-ATC-TGG c.31_33delinsTGG p.I11W Missense 2/16 - 1
12-112884096-AT-GA c.31_32delinsGA p.I11D Missense 2/16 - 1
12-112884096-AT-GC c.31_32delinsGC p.I11A Missense 2/16 - 1
12-112884096-AT-GG c.31_32delinsGG p.I11G Missense 2/16 - 2
12-112884096-AT-TA c.31_32delinsTA p.I11Y Missense 2/16 - 1
12-112884096-AT-TG c.31_32delinsTG p.I11C Missense 2/16 - 1
12-112884097-T-A c.32T>A p.I11N Missense 2/16 - 1
12-112884097-T-C c.32T>C p.I11T Missense 2/16 - 2
12-112884097-TC-AG c.32_33delinsAG p.I11K Missense 2/16 - 1
12-112884097-TC-GG c.32_33delinsGG p.I11R Missense 2/16 - 1
12-112884097-T-G c.32T>G p.I11S Missense 2/16 - 1
12-112884098-C-G c.33C>G p.I11M Missense 2/16 - 5
12-112884098-C-T c.33C>T p.I11= Synonymous 2/16 - 3
12-112884099-A-C c.34A>C p.T12P Missense 2/16 - 1
12-112884099-AC-CA c.34_35delinsCA p.T12H Missense 2/16 - 1
12-112884099-AC-CT c.34_35delinsCT p.T12L Missense 2/16 - 1
12-112884099-AC-GA c.34_35delinsGA p.T12D Missense 2/16 - 1
12-112884099-AC-GG c.34_35delinsGG p.T12G Missense 2/16 - 1
12-112884099-AC-GT c.34_35inv p.T12V Missense 2/16 - 1
12-112884099-AC-TA c.34_35delinsTA p.T12Y Missense 2/16 - 1
12-112884099-ACT-CAA c.34_36delinsCAA p.T12Q Missense 2/16 - 2
12-112884099-AC-TG c.34_35delinsTG p.T12C Missense 2/16 - 1
12-112884099-ACT-GAG c.34_36delinsGAG p.T12E Missense 2/16 - 1
12-112884099-AC-TT c.34_35delinsTT p.T12F Missense 2/16 - 1
12-112884099-ACT-TGG c.34_36delinsTGG p.T12W Missense 2/16 - 1
12-112884099-A-G c.34A>G p.T12A Missense 2/16 - 2
12-112884099-A-T c.34A>T p.T12S Missense 2/16 - 2
12-112884100-C-A c.35C>A p.T12N Missense 2/16 - 1
12-112884100-C-G c.35C>G p.T12S Missense 2/16 - 2
12-112884100-C-T c.35C>T p.T12I Missense 2/16 - 1
12-112884100-CT-AG c.35_36inv p.T12K Missense 2/16 - 1
12-112884100-CT-GG c.35_36delinsGG p.T12R Missense 2/16 - 2
12-112884100-CT-TG c.35_36delinsTG p.T12M Missense 2/16 - 1
12-112884101-T-A c.36T>A p.T12= Synonymous 2/16 - 1
12-112884101-T-C c.36T>C p.T12= Synonymous 2/16 - 1
12-112884101-T-G c.36T>G p.T12= Synonymous 2/16 - 1
12-112884102-G-A c.37G>A p.G13S Missense 2/16 - 2
12-112884102-G-C c.37G>C p.G13R Missense 2/16 - 9
12-112884102-GG-AA c.37_38delinsAA p.G13N Missense 2/16 - 1
12-112884102-GG-AC c.37_38delinsAC p.G13T Missense 2/16 - 1
12-112884102-GG-AT c.37_38delinsAT p.G13I Missense 2/16 - 1
12-112884102-GG-CA c.37_38delinsCA p.G13H Missense 2/16 - 1
12-112884102-GG-CC c.37_38inv p.G13P Missense 2/16 - 2
12-112884102-GG-CT c.37_38delinsCT p.G13L Missense 2/16 - 1
12-112884102-GG-TA c.37_38delinsTA p.G13Y Missense 2/16 - 1
12-112884102-GGT-AAG c.37_39delinsAAG p.G13K Missense 2/16 - 1
12-112884102-GGT-ATG c.37_39delinsATG p.G13M Missense 2/16 - 1
12-112884102-GGT-CAA c.37_39delinsCAA p.G13Q Missense 2/16 - 1
12-112884102-GG-TT c.37_38delinsTT p.G13F Missense 2/16 - 1
12-112884102-GGT-TGG c.37_39delinsTGG p.G13W Missense 2/16 - 1
12-112884102-G-T c.37G>T p.G13C Missense 2/16 - 8
12-112884103-G-A c.38G>A p.G13D Missense 2/16 - 36
12-112884103-G-C c.38G>C p.G13A Missense 2/16 - 2
12-112884103-G-T c.38G>T p.G13V Missense 2/16 - 4
12-112884103-GT-AG c.38_39delinsAG p.G13E Missense 2/16 - 1
12-112884105-G-A c.40G>A p.V14M Missense 2/16 - 1
12-112884105-G-C c.40G>C p.V14L Missense 2/16 - 1
12-112884105-G-T c.40G>T p.V14L Missense 2/16 - 1
12-112884105-GT-AA c.40_41delinsAA p.V14K Missense 2/16 - 1
12-112884105-GT-AC c.40_41inv p.V14T Missense 2/16 - 1
12-112884105-GT-AG c.40_41delinsAG p.V14R Missense 2/16 - 1
12-112884105-GT-CA c.40_41delinsCA p.V14Q Missense 2/16 - 1
12-112884105-GT-CC c.40_41delinsCC p.V14P Missense 2/16 - 1
12-112884105-GTG-AAC c.40_42delinsAAC p.V14N Missense 2/16 - 1
12-112884105-GTG-ATC c.40_42delinsATC p.V14I Missense 2/16 - 10
12-112884105-GTG-CAT c.40_42delinsCAT p.V14H Missense 2/16 - 1
12-112884105-GTG-TAT c.40_42delinsTAT p.V14Y Missense 2/16 - 1
12-112884105-GTG-TGT c.40_42delinsTGT p.V14C Missense 2/16 - 1
12-112884105-GTG-TTT c.40_42delinsTTT p.V14F Missense 2/16 - 1
12-112884105-GT-TC c.40_41delinsTC p.V14S Missense 2/16 - 1
12-112884105-GT-TG c.40_41delinsTG p.V14W Missense 2/16 - 1
12-112884106-T-A c.41T>A p.V14E Missense 2/16 - 1
12-112884106-T-C c.41T>C p.V14A Missense 2/16 - 3
12-112884106-T-G c.41T>G p.V14G Missense 2/16 - 1
12-112884106-TG-AC c.41_42delinsAC p.V14D Missense 2/16 - 1
12-112884108-G-A c.43G>A p.E15K Missense 2/16 - 2
12-112884108-GA-AC c.43_44delinsAC p.E15T Missense 2/16 - 1
12-112884108-GA-AG c.43_44delinsAG p.E15R Missense 2/16 - 1
12-112884108-GA-AT c.43_44delinsAT p.E15M Missense 2/16 - 1
12-112884108-GA-CC c.43_44delinsCC p.E15P Missense 2/16 - 1
12-112884108-GA-CT c.43_44delinsCT p.E15L Missense 2/16 - 2
12-112884108-GAG-AAC c.43_45delinsAAC p.E15N Missense 2/16 - 1
12-112884108-GAG-ATC c.43_45delinsATC p.E15I Missense 2/16 - 1
12-112884108-GAG-CAT c.43_45delinsCAT p.E15H Missense 2/16 - 1
12-112884108-GAG-TAT c.43_45delinsTAT p.E15Y Missense 2/16 - 1
12-112884108-GAG-TGT c.43_45delinsTGT p.E15C Missense 2/16 - 1
12-112884108-GAG-TTT c.43_45delinsTTT p.E15F Missense 2/16 - 1
12-112884108-GA-TC c.43_44inv p.E15S Missense 2/16 - 1
12-112884108-GA-TG c.43_44delinsTG p.E15W Missense 2/16 - 1
12-112884108-G-C c.43G>C p.E15Q Missense 2/16 - 1
12-112884106-TGGA-T c.44_46del p.E15del InFrameDeletion 2/16 - 1
12-112884109-A-C c.44A>C p.E15A Missense 2/16 - 1
12-112884109-A-G c.44A>G p.E15G Missense 2/16 - 2
12-112884109-A-T c.44A>T p.E15V Missense 2/16 - 1
12-112884110-G-C c.45G>C p.E15D Missense 2/16 - 1
12-112884110-G-T c.45G>T p.E15D Missense 2/16 - 1
12-112884111-G-A c.46G>A p.A16T Missense 2/16 - 1
12-112884111-G-C c.46G>C p.A16P Missense 2/16 - 2
12-112884111-GC-AA c.46_47delinsAA p.A16K Missense 2/16 - 1
12-112884111-GCA-AAC c.46_48delinsAAC p.A16N Missense 2/16 - 1
12-112884111-GCA-ATG c.46_48delinsATG p.A16M Missense 2/16 - 1
12-112884111-GCA-CAT c.46_48delinsCAT p.A16H Missense 2/16 - 1
12-112884111-GC-AG c.46_47delinsAG p.A16R Missense 2/16 - 1
12-112884111-GC-AT c.46_47delinsAT p.A16I Missense 2/16 - 1
12-112884111-GCA-TAT c.46_48delinsTAT p.A16Y Missense 2/16 - 3
12-112884111-GCA-TGG c.46_48delinsTGG p.A16W Missense 2/16 - 1
12-112884111-GCA-TGT c.46_48delinsTGT p.A16C Missense 2/16 - 2
12-112884111-GCA-TTT c.46_48delinsTTT p.A16F Missense 2/16 - 1
12-112884111-GC-CA c.46_47delinsCA p.A16Q Missense 2/16 - 1
12-112884111-GC-CT c.46_47delinsCT p.A16L Missense 2/16 - 1
12-112884111-GC-TA c.46_47delinsTA p.A16* Nonsense 2/16 - 1
12-112884111-G-T c.46G>T p.A16S Missense 2/16 - 3
12-112884112-C-A c.47C>A p.A16E Missense 2/16 - 1
12-112884112-CA-AC c.47_48delinsAC p.A16D Missense 2/16 - 3
12-112884112-C-G c.47C>G p.A16G Missense 2/16 - 3
12-112884112-C-T c.47C>T p.A16V Missense 2/16 - 1
12-112884113-A-C c.48A>C p.A16= Synonymous 2/16 - 1
12-112884113-A-G c.48A>G p.A16= Synonymous 2/16 - 2
12-112884113-A-T c.48A>T p.A16= Synonymous 2/16 - 1
12-112884112-CAGA-C c.49_51del p.E17del InFrameDeletion 2/16 - 1
12-112884114-G-A c.49G>A p.E17K Missense 2/16 - 4
12-112884114-GAA-AAC c.49_51delinsAAC p.E17N Missense 2/16 - 1
12-112884114-GAA-ATG c.49_51delinsATG p.E17M Missense 2/16 - 1
12-112884114-GA-AC c.49_50delinsAC p.E17T Missense 2/16 - 1
12-112884114-GAA-CAT c.49_51delinsCAT p.E17H Missense 2/16 - 1
12-112884114-GA-AG c.49_50delinsAG p.E17R Missense 2/16 - 1
12-112884114-GA-AT c.49_50delinsAT p.E17I Missense 2/16 - 1
12-112884114-GAA-TAT c.49_51delinsTAT p.E17Y Missense 2/16 - 1
12-112884114-GAA-TGG c.49_51delinsTGG p.E17W Missense 2/16 - 1
12-112884114-GAA-TGT c.49_51delinsTGT p.E17C Missense 2/16 - 1
12-112884114-GAA-TTT c.49_51delinsTTT p.E17F Missense 2/16 - 1
12-112884114-GA-CC c.49_50delinsCC p.E17P Missense 2/16 - 1
12-112884114-GA-CT c.49_50delinsCT p.E17L Missense 2/16 - 1
12-112884114-GA-TC c.49_50inv p.E17S Missense 2/16 - 1
12-112884114-G-C c.49G>C p.E17Q Missense 2/16 - 1
12-112884115-A-C c.50A>C p.E17A Missense 2/16 - 1
12-112884115-A-G c.50A>G p.E17G Missense 2/16 - 1
12-112884115-A-T c.50A>T p.E17V Missense 2/16 - 1
12-112884116-A-C c.51A>C p.E17D Missense 2/16 - 2
12-112884116-A-T c.51A>T p.E17D Missense 2/16 - 2
12-112884117-AA-CC c.52_53delinsCC p.N18P Missense 2/16 - 1
12-112884117-AAC-CAA c.52_54delinsCAA p.N18Q Missense 2/16 - 1
12-112884117-AAC-GAG c.52_54delinsGAG p.N18E Missense 2/16 - 1
12-112884117-AA-CT c.52_53delinsCT p.N18L Missense 2/16 - 1
12-112884117-AAC-TGG c.52_54delinsTGG p.N18W Missense 2/16 - 1
12-112884117-AA-GC c.52_53delinsGC p.N18A Missense 2/16 - 1
12-112884117-AA-GG c.52_53delinsGG p.N18G Missense 2/16 - 1
12-112884117-AA-GT c.52_53delinsGT p.N18V Missense 2/16 - 1
12-112884117-AA-TG c.52_53delinsTG p.N18C Missense 2/16 - 1
12-112884117-AA-TT c.52_53inv p.N18F Missense 2/16 - 1
12-112884117-A-C c.52A>C p.N18H Missense 2/16 - 1
12-112884117-A-G c.52A>G p.N18D Missense 2/16 - 2
12-112884117-A-T c.52A>T p.N18Y Missense 2/16 - 1
12-112884118-A-C c.53A>C p.N18T Missense 2/16 - 1
12-112884118-AC-GG c.53_54delinsGG p.N18R Missense 2/16 - 1
12-112884118-AC-TG c.53_54delinsTG p.N18M Missense 2/16 - 1
12-112884118-A-G c.53A>G p.N18S Missense 2/16 - 5
12-112884118-A-T c.53A>T p.N18I Missense 2/16 - 1
12-112884119-C-A c.54C>A p.N18K Missense 2/16 - 1
12-112884119-C-G c.54C>G p.N18K Missense 2/16 - 1
12-112884120-C-A c.55C>A p.L19I Missense 2/16 - 1
12-112884120-C-G c.55C>G p.L19V Missense 2/16 - 1
12-112884120-CT-AA c.55_56delinsAA p.L19K Missense 2/16 - 1
12-112884120-CTA-AAC c.55_57delinsAAC p.L19N Missense 2/16 - 1
12-112884120-CTA-ATG c.55_57delinsATG p.L19M Missense 2/16 - 1
12-112884120-CT-AC c.55_56delinsAC p.L19T Missense 2/16 - 1
12-112884120-CTA-GAC c.55_57delinsGAC p.L19D Missense 2/16 - 1
12-112884120-CTA-TAT c.55_57delinsTAT p.L19Y Missense 2/16 - 1
12-112884120-CTA-TGG c.55_57delinsTGG p.L19W Missense 2/16 - 1
12-112884120-CTA-TGT c.55_57delinsTGT p.L19C Missense 2/16 - 1
12-112884120-CTA-TTT c.55_57delinsTTT p.L19F Missense 2/16 - 4
12-112884120-CT-GA c.55_56delinsGA p.L19E Missense 2/16 - 2
12-112884120-CT-GC c.55_56delinsGC p.L19A Missense 2/16 - 2
12-112884120-CT-GG c.55_56delinsGG p.L19G Missense 2/16 - 1
12-112884120-CT-TC c.55_56delinsTC p.L19S Missense 2/16 - 3
12-112884121-T-A c.56T>A p.L19Q Missense 2/16 - 1
12-112884121-TA-AT c.56_57delinsAT p.L19H Missense 2/16 - 1
12-112884121-T-C c.56T>C p.L19P Missense 2/16 - 1
12-112884121-T-G c.56T>G p.L19R Missense 2/16 - 1
12-112884123-C-A c.58C>A p.L20M Missense 2/16 - 1
12-112884123-C-G c.58C>G p.L20V Missense 2/16 - 2
12-112884123-C-T c.58C>T p.L20= Synonymous 2/16 - 2
12-112884123-CT-AA c.58_59delinsAA p.L20K Missense 2/16 - 1
12-112884123-CT-AC c.58_59delinsAC p.L20T Missense 2/16 - 1
12-112884123-CT-GA c.58_59delinsGA p.L20E Missense 2/16 - 1
12-112884123-CTG-AAC c.58_60delinsAAC p.L20N Missense 2/16 - 1
12-112884123-CTG-ATC c.58_60delinsATC p.L20I Missense 2/16 - 1
12-112884123-CT-GC c.58_59delinsGC p.L20A Missense 2/16 - 1
12-112884123-CT-GG c.58_59delinsGG p.L20G Missense 2/16 - 1
12-112884123-CTG-GAC c.58_60delinsGAC p.L20D Missense 2/16 - 1
12-112884123-CTG-TAT c.58_60delinsTAT p.L20Y Missense 2/16 - 1
12-112884123-CTG-TGT c.58_60delinsTGT p.L20C Missense 2/16 - 1
12-112884123-CTG-TTT c.58_60delinsTTT p.L20F Missense 2/16 - 1
12-112884123-CT-TC c.58_59delinsTC p.L20S Missense 2/16 - 1
12-112884123-CT-TG c.58_59delinsTG p.L20W Missense 2/16 - 1
12-112884124-T-A c.59T>A p.L20Q Missense 2/16 - 1
12-112884124-T-C c.59T>C p.L20P Missense 2/16 - 2
12-112884124-T-G c.59T>G p.L20R Missense 2/16 - 1
12-112884124-TG-AT c.59_60delinsAT p.L20H Missense 2/16 - 1
12-112884125-G-A c.60G>A p.L20= Synonymous 2/16 - 1
12-112884125-G-C c.60G>C p.L20= Synonymous 2/16 - 1
12-112884125-G-T c.60G>T p.L20= Synonymous 2/16 - 1
12-112884126-T-A c.61T>A p.L21M Missense 2/16 - 1
12-112884126-T-G c.61T>G p.L21V Missense 2/16 - 1
12-112884126-TT-AA c.61_62inv p.L21K Missense 2/16 - 1
12-112884126-TT-AC c.61_62delinsAC p.L21T Missense 2/16 - 1
12-112884126-TT-AG c.61_62delinsAG p.L21R Missense 2/16 - 1
12-112884126-TT-CA c.61_62delinsCA p.L21Q Missense 2/16 - 1
12-112884126-TT-CC c.61_62delinsCC p.L21P Missense 2/16 - 1
12-112884126-TT-GA c.61_62delinsGA p.L21E Missense 2/16 - 3
12-112884126-TTG-AAC c.61_63delinsAAC p.L21N Missense 2/16 - 1
12-112884126-TTG-ATC c.61_63delinsATC p.L21I Missense 2/16 - 1
12-112884126-TT-GC c.61_62delinsGC p.L21A Missense 2/16 - 2
12-112884126-TTG-CAT c.61_63delinsCAT p.L21H Missense 2/16 - 1
12-112884126-TT-GG c.61_62delinsGG p.L21G Missense 2/16 - 1
12-112884126-TTG-GAC c.61_63delinsGAC p.L21D Missense 2/16 - 1
12-112884127-T-C c.62T>C p.L21S Missense 2/16 - 1
12-112884127-T-G c.62T>G p.L21W Missense 2/16 - 1
12-112884127-TG-AT c.62_63delinsAT p.L21Y Missense 2/16 - 1
12-112884127-TG-GT c.62_63delinsGT p.L21C Missense 2/16 - 1
12-112884128-G-C c.63G>C p.L21F Missense 2/16 - 3
12-112884128-G-T c.63G>T p.L21F Missense 2/16 - 3
12-112884129-A-C c.64A>C p.T22P Missense 2/16 - 1
12-112884129-ACA-CAT c.64_66delinsCAT p.T22H Missense 2/16 - 1
12-112884129-ACA-GAC c.64_66delinsGAC p.T22D Missense 2/16 - 1
12-112884129-ACA-TAT c.64_66delinsTAT p.T22Y Missense 2/16 - 1
12-112884129-ACA-TGG c.64_66delinsTGG p.T22W Missense 2/16 - 1
12-112884129-ACA-TGT c.64_66inv p.T22C Missense 2/16 - 3
12-112884129-ACA-TTT c.64_66delinsTTT p.T22F Missense 2/16 - 1
12-112884129-AC-CA c.64_65delinsCA p.T22Q Missense 2/16 - 1
12-112884129-AC-CT c.64_65delinsCT p.T22L Missense 2/16 - 1
12-112884129-AC-GA c.64_65delinsGA p.T22E Missense 2/16 - 1
12-112884129-AC-GG c.64_65delinsGG p.T22G Missense 2/16 - 1
12-112884129-AC-GT c.64_65inv p.T22V Missense 2/16 - 1
12-112884129-A-G c.64A>G p.T22A Missense 2/16 - 6
12-112884129-A-T c.64A>T p.T22S Missense 2/16 - 2
12-112884130-C-A c.65C>A p.T22K Missense 2/16 - 1
12-112884130-CA-AC c.65_66delinsAC p.T22N Missense 2/16 - 4
12-112884130-CA-TG c.65_66inv p.T22M Missense 2/16 - 1
12-112884130-C-G c.65C>G p.T22R Missense 2/16 - 1
12-112884130-C-T c.65C>T p.T22I Missense 2/16 - 5
12-112884132-AGA-GAC c.67_69delinsGAC p.R23D Missense 2/16 - 1
12-112884132-AGA-TGT c.67_69delinsTGT p.R23C Missense 2/16 - 1
12-112884132-AG-GC c.67_68delinsGC p.R23A Missense 2/16 - 1
12-112884132-A-T c.67A>T p.R23* Nonsense 2/16 - 1
12-112884133-G-A c.68G>A p.R23K Missense 2/16 - 2
12-112884133-G-T c.68G>T p.R23I Missense 2/16 - 1
12-112884135-G-A c.70G>A p.G24R Missense 2/16 - 1
12-112884135-G-C c.70G>C p.G24R Missense 2/16 - 1
12-112884135-GG-AA c.70_71delinsAA p.G24K Missense 2/16 - 1
12-112884135-GGA-AAC c.70_72delinsAAC p.G24N Missense 2/16 - 1
12-112884135-GGA-AGC c.70_72delinsAGC p.G24S Missense 2/16 - 1
12-112884135-GGA-ATG c.70_72delinsATG p.G24M Missense 2/16 - 1
12-112884135-GG-AC c.70_71delinsAC p.G24T Missense 2/16 - 1
12-112884135-GGA-CAT c.70_72delinsCAT p.G24H Missense 2/16 - 1
12-112884135-GG-AT c.70_71delinsAT p.G24I Missense 2/16 - 1
12-112884135-GGA-TAT c.70_72delinsTAT p.G24Y Missense 2/16 - 1
12-112884135-GGA-TGG c.70_72delinsTGG p.G24W Missense 2/16 - 1
12-112884135-GGA-TGT c.70_72delinsTGT p.G24C Missense 2/16 - 1
12-112884135-GGA-TTT c.70_72delinsTTT p.G24F Missense 2/16 - 1
12-112884135-GG-CA c.70_71delinsCA p.G24Q Missense 2/16 - 1
12-112884135-GG-CC c.70_71inv p.G24P Missense 2/16 - 1
12-112884135-GG-CT c.70_71delinsCT p.G24L Missense 2/16 - 1
12-112884136-G-A c.71G>A p.G24E Missense 2/16 - 1
12-112884136-GA-AC c.71_72delinsAC p.G24D Missense 2/16 - 1
12-112884136-G-C c.71G>C p.G24A Missense 2/16 - 2
12-112884136-G-T c.71G>T p.G24V Missense 2/16 - 1
12-112884138-G-A c.73G>A p.V25I Missense 2/16 - 1
12-112884138-G-C c.73G>C p.V25L Missense 2/16 - 2
12-112884138-G-T c.73G>T p.V25F Missense 2/16 - 4
12-112884138-GT-AA c.73_74delinsAA p.V25N Missense 2/16 - 1
12-112884138-GT-AC c.73_74inv p.V25T Missense 2/16 - 1
12-112884138-GT-AG c.73_74delinsAG p.V25S Missense 2/16 - 1
12-112884138-GT-CA c.73_74delinsCA p.V25H Missense 2/16 - 1
12-112884138-GT-CC c.73_74delinsCC p.V25P Missense 2/16 - 1
12-112884138-GT-CG c.73_74delinsCG p.V25R Missense 2/16 - 1
12-112884138-GT-TA c.73_74delinsTA p.V25Y Missense 2/16 - 1
12-112884138-GTT-AAG c.73_75delinsAAG p.V25K Missense 2/16 - 1
12-112884138-GTT-ATG c.73_75delinsATG p.V25M Missense 2/16 - 1
12-112884138-GTT-CAA c.73_75delinsCAA p.V25Q Missense 2/16 - 1
12-112884138-GT-TG c.73_74delinsTG p.V25C Missense 2/16 - 1
12-112884138-GTT-TGG c.73_75delinsTGG p.V25W Missense 2/16 - 1
12-112884139-T-A c.74T>A p.V25D Missense 2/16 - 1
12-112884139-T-C c.74T>C p.V25A Missense 2/16 - 2
12-112884139-T-G c.74T>G p.V25G Missense 2/16 - 1
12-112884139-TT-AG c.74_75delinsAG p.V25E Missense 2/16 - 1
12-112884140-T-A c.75T>A p.V25= Synonymous 2/16 - 2
12-112884140-T-C c.75T>C p.V25= Synonymous 2/16 - 2
12-112884140-T-G c.75T>G p.V25= Synonymous 2/16 - 2
12-112884141-G-A c.76G>A p.D26N Missense 2/16 - 3
12-112884141-GA-AC c.76_77delinsAC p.D26T Missense 2/16 - 1
12-112884141-GA-AG c.76_77delinsAG p.D26S Missense 2/16 - 1
12-112884141-GA-AT c.76_77delinsAT p.D26I Missense 2/16 - 1
12-112884141-GA-CC c.76_77delinsCC p.D26P Missense 2/16 - 1
12-112884141-GA-CG c.76_77delinsCG p.D26R Missense 2/16 - 1
12-112884141-GA-CT c.76_77delinsCT p.D26L Missense 2/16 - 1
12-112884141-GAT-AAG c.76_78delinsAAG p.D26K Missense 2/16 - 1
12-112884141-GAT-ATG c.76_78delinsATG p.D26M Missense 2/16 - 1
12-112884141-GAT-CAA c.76_78delinsCAA p.D26Q Missense 2/16 - 1
12-112884141-GA-TG c.76_77delinsTG p.D26C Missense 2/16 - 1
12-112884141-GA-TT c.76_77delinsTT p.D26F Missense 2/16 - 1
12-112884141-GAT-TGG c.76_78delinsTGG p.D26W Missense 2/16 - 1
12-112884141-G-C c.76G>C p.D26H Missense 2/16 - 1
12-112884141-G-T c.76G>T p.D26Y Missense 2/16 - 2
12-112884142-A-C c.77A>C p.D26A Missense 2/16 - 3
12-112884142-A-G c.77A>G p.D26G Missense 2/16 - 1
12-112884142-A-T c.77A>T p.D26V Missense 2/16 - 2
12-112884143-T-A c.78T>A p.D26E Missense 2/16 - 1
12-112884143-T-G c.78T>G p.D26E Missense 2/16 - 1
12-112884144-G-A c.79G>A p.G27S Missense 2/16 - 1
12-112884144-G-C c.79G>C p.G27R Missense 2/16 - 3
12-112884144-GG-AA c.79_80delinsAA p.G27N Missense 2/16 - 1
12-112884144-GG-AC c.79_80delinsAC p.G27T Missense 2/16 - 1
12-112884144-GG-AT c.79_80delinsAT p.G27I Missense 2/16 - 1
12-112884144-GG-CA c.79_80delinsCA p.G27H Missense 2/16 - 1
12-112884144-GGC-AAG c.79_81delinsAAG p.G27K Missense 2/16 - 1
12-112884144-GGC-ATG c.79_81delinsATG p.G27M Missense 2/16 - 1
12-112884144-GG-CC c.79_80inv p.G27P Missense 2/16 - 1
12-112884144-GGC-CAA c.79_81delinsCAA p.G27Q Missense 2/16 - 1
12-112884144-GG-CT c.79_80delinsCT p.G27L Missense 2/16 - 1
12-112884144-GGC-TGG c.79_81delinsTGG p.G27W Missense 2/16 - 1
12-112884144-GG-TA c.79_80delinsTA p.G27Y Missense 2/16 - 1
12-112884144-GG-TT c.79_80delinsTT p.G27F Missense 2/16 - 1
12-112884144-G-T c.79G>T p.G27C Missense 2/16 - 1
12-112884143-TG-T c.80del p.G27Afs*62 Frameshift 2/16 - 1
12-112884145-G-A c.80G>A p.G27D Missense 2/16 - 5
12-112884145-G-C c.80G>C p.G27A Missense 2/16 - 2
12-112884145-GC-AG c.80_81delinsAG p.G27E Missense 2/16 - 1
12-112884145-G-T c.80G>T p.G27V Missense 2/16 - 1
12-112884146-C-CT c.81_82insT p.S28* Nonsense 2/16 - 1
12-112884147-A-G c.82A>G p.S28G Missense 2/16 - 1
12-112884147-AG-CA c.82_83delinsCA p.S28H Missense 2/16 - 1
12-112884147-AG-CC c.82_83delinsCC p.S28P Missense 2/16 - 1
12-112884147-AG-CT c.82_83inv p.S28L Missense 2/16 - 1
12-112884147-AG-GA c.82_83delinsGA p.S28D Missense 2/16 - 1
12-112884147-AG-GC c.82_83delinsGC p.S28A Missense 2/16 - 1
12-112884147-AG-GT c.82_83delinsGT p.S28V Missense 2/16 - 1
12-112884147-AG-TA c.82_83delinsTA p.S28Y Missense 2/16 - 1
12-112884147-AGT-CAA c.82_84delinsCAA p.S28Q Missense 2/16 - 1
12-112884147-AGT-GAG c.82_84delinsGAG p.S28E Missense 2/16 - 5
12-112884147-AG-TT c.82_83delinsTT p.S28F Missense 2/16 - 1
12-112884147-AGT-TGG c.82_84delinsTGG p.S28W Missense 2/16 - 1
12-112884147-A-T c.82A>T p.S28C Missense 2/16 - 1
12-112884148-G-A c.83G>A p.S28N Missense 2/16 - 2
12-112884148-G-C c.83G>C p.S28T Missense 2/16 - 1
12-112884148-G-T c.83G>T p.S28I Missense 2/16 - 1
12-112884148-GT-AG c.83_84delinsAG p.S28K Missense 2/16 - 1
12-112884148-GT-TG c.83_84delinsTG p.S28M Missense 2/16 - 1
12-112884147-A-C c.82A>C p.S28R Missense 2/16 - 1
12-112884149-T-A c.84T>A p.S28R Missense 2/16 - 1
12-112884149-T-G c.84T>G p.S28R Missense 2/16 - 1
12-112884150-T-A c.85T>A p.F29I Missense 2/16 - 1
12-112884150-T-C c.85T>C p.F29L Missense 2/16 - 1
12-112884150-T-G c.85T>G p.F29V Missense 2/16 - 1
12-112884150-TT-AA c.85_86inv p.F29N Missense 2/16 - 1
12-112884150-TT-AC c.85_86delinsAC p.F29T Missense 2/16 - 1
12-112884150-TT-CA c.85_86delinsCA p.F29H Missense 2/16 - 1
12-112884150-TT-CC c.85_86delinsCC p.F29P Missense 2/16 - 2
12-112884150-TT-CG c.85_86delinsCG p.F29R Missense 2/16 - 1
12-112884150-TT-GA c.85_86delinsGA p.F29D Missense 2/16 - 1
12-112884150-TT-GC c.85_86delinsGC p.F29A Missense 2/16 - 2
12-112884150-TT-GG c.85_86delinsGG p.F29G Missense 2/16 - 1
12-112884150-TTT-AAG c.85_87delinsAAG p.F29K Missense 2/16 - 1
12-112884150-TTT-ATG c.85_87delinsATG p.F29M Missense 2/16 - 1
12-112884150-TTT-CAA c.85_87delinsCAA p.F29Q Missense 2/16 - 1
12-112884150-TTT-GAG c.85_87delinsGAG p.F29E Missense 2/16 - 1
12-112884152-T-A c.87T>A p.F29L Missense 2/16 - 1
12-112884152-T-G c.87T>G p.F29L Missense 2/16 - 1
12-112884151-T-A c.86T>A p.F29Y Missense 2/16 - 1
12-112884151-T-C c.86T>C p.F29S Missense 2/16 - 1
12-112884151-T-G c.86T>G p.F29C Missense 2/16 - 3
12-112884151-TT-GG c.86_87delinsGG p.F29W Missense 2/16 - 2
12-112884153-T-A c.88T>A p.L30M Missense 2/16 - 1
12-112884153-T-C c.88T>C p.L30= Synonymous 2/16 - 1
12-112884153-T-G c.88T>G p.L30V Missense 2/16 - 2
12-112884153-TT-AA c.88_89inv p.L30K Missense 2/16 - 1
12-112884153-TT-AC c.88_89delinsAC p.L30T Missense 2/16 - 1
12-112884153-TT-AG c.88_89delinsAG p.L30R Missense 2/16 - 1
12-112884153-TT-CA c.88_89delinsCA p.L30Q Missense 2/16 - 1
12-112884153-TT-CC c.88_89delinsCC p.L30P Missense 2/16 - 2
12-112884153-TT-GA c.88_89delinsGA p.L30E Missense 2/16 - 2
12-112884153-TTG-AAC c.88_90delinsAAC p.L30N Missense 2/16 - 1
12-112884153-TTG-ATC c.88_90delinsATC p.L30I Missense 2/16 - 1
12-112884153-TT-GC c.88_89delinsGC p.L30A Missense 2/16 - 1
12-112884153-TTG-CAT c.88_90delinsCAT p.L30H Missense 2/16 - 1
12-112884153-TT-GG c.88_89delinsGG p.L30G Missense 2/16 - 1
12-112884153-TTG-GAC c.88_90delinsGAC p.L30D Missense 2/16 - 1
12-112884155-G-A c.90G>A p.L30= Synonymous 2/16 - 1
12-112884148-GT-G c.89del p.L30Wfs*59 Frameshift 2/16 - 3
12-112884154-T-C c.89T>C p.L30S Missense 2/16 - 1
12-112884154-T-G c.89T>G p.L30W Missense 2/16 - 1
12-112884154-TG-AT c.89_90delinsAT p.L30Y Missense 2/16 - 1
12-112884154-TG-GT c.89_90delinsGT p.L30C Missense 2/16 - 1
12-112884155-G-C c.90G>C p.L30F Missense 2/16 - 1
12-112884155-G-T c.90G>T p.L30F Missense 2/16 - 1
12-112884156-G-A c.91G>A p.A31T Missense 2/16 - 3
12-112884156-G-C c.91G>C p.A31P Missense 2/16 - 1
12-112884156-GC-AA c.91_92delinsAA p.A31K Missense 2/16 - 1
12-112884156-GCA-AAC c.91_93delinsAAC p.A31N Missense 2/16 - 1
12-112884156-GCA-ATG c.91_93delinsATG p.A31M Missense 2/16 - 1
12-112884156-GCA-CAT c.91_93delinsCAT p.A31H Missense 2/16 - 1
12-112884156-GC-AG c.91_92delinsAG p.A31R Missense 2/16 - 1
12-112884156-GC-AT c.91_92delinsAT p.A31I Missense 2/16 - 1
12-112884156-GCA-TAT c.91_93delinsTAT p.A31Y Missense 2/16 - 1
12-112884156-GCA-TGG c.91_93delinsTGG p.A31W Missense 2/16 - 1
12-112884156-GCA-TGT c.91_93delinsTGT p.A31C Missense 2/16 - 1
12-112884156-GCA-TTT c.91_93delinsTTT p.A31F Missense 2/16 - 2
12-112884156-GC-CA c.91_92delinsCA p.A31Q Missense 2/16 - 1
12-112884156-GC-CT c.91_92delinsCT p.A31L Missense 2/16 - 2
12-112884156-GC-TA c.91_92delinsTA p.A31* Nonsense 2/16 - 2
12-112884156-G-T c.91G>T p.A31S Missense 2/16 - 2
12-112884157-C-A c.92C>A p.A31E Missense 2/16 - 2
12-112884157-CA-AC c.92_93delinsAC p.A31D Missense 2/16 - 1
12-112884157-C-G c.92C>G p.A31G Missense 2/16 - 3
12-112884157-C-T c.92C>T p.A31V Missense 2/16 - 1
12-112884159-AAGG-A c.94_96del p.R32del InFrameDeletion 2/16 - 1
12-112884159-A-G c.94A>G p.R32G Missense 2/16 - 2
12-112884159-AG-CA c.94_95delinsCA p.R32Q Missense 2/16 - 1
12-112884159-AG-CC c.94_95delinsCC p.R32P Missense 2/16 - 1
12-112884159-AG-CT c.94_95inv p.R32L Missense 2/16 - 2
12-112884159-AG-GA c.94_95delinsGA p.R32E Missense 2/16 - 3
12-112884159-AG-GC c.94_95delinsGC p.R32A Missense 2/16 - 6
12-112884159-AGG-CAT c.94_96delinsCAT p.R32H Missense 2/16 - 1
12-112884159-AGG-GAC c.94_96delinsGAC p.R32D Missense 2/16 - 1
12-112884159-AG-GT c.94_95delinsGT p.R32V Missense 2/16 - 1
12-112884159-AGG-TAT c.94_96delinsTAT p.R32Y Missense 2/16 - 1
12-112884159-AGG-TGT c.94_96delinsTGT p.R32C Missense 2/16 - 1
12-112884159-AGG-TTT c.94_96delinsTTT p.R32F Missense 2/16 - 2
12-112884159-A-T c.94A>T p.R32W Missense 2/16 - 1
12-112884160-G-A c.95G>A p.R32K Missense 2/16 - 3
12-112884160-G-C c.95G>C p.R32T Missense 2/16 - 2
12-112884160-GG-AC c.95_96delinsAC p.R32N Missense 2/16 - 1
12-112884160-GG-TC c.95_96delinsTC p.R32I Missense 2/16 - 1
12-112884160-G-T c.95G>T p.R32M Missense 2/16 - 2
12-112884159-A-C c.94A>C p.R32= Synonymous 2/16 - 1
12-112884161-G-A c.96G>A p.R32= Synonymous 2/16 - 1
12-112884161-G-C c.96G>C p.R32S Missense 2/16 - 2
12-112884161-G-T c.96G>T p.R32S Missense 2/16 - 2
12-112884162-C-A c.97C>A p.P33T Missense 2/16 - 1
12-112884162-CC-AA c.97_98delinsAA p.P33N Missense 2/16 - 1
12-112884162-CC-AT c.97_98delinsAT p.P33I Missense 2/16 - 1
12-112884162-CC-GA c.97_98delinsGA p.P33D Missense 2/16 - 1
12-112884162-CC-GG c.97_98inv p.P33G Missense 2/16 - 1
12-112884162-CC-GT c.97_98delinsGT p.P33V Missense 2/16 - 1
12-112884162-CC-TA c.97_98delinsTA p.P33Y Missense 2/16 - 1
12-112884162-CCT-AAG c.97_99delinsAAG p.P33K Missense 2/16 - 1
12-112884162-CCT-ATG c.97_99delinsATG p.P33M Missense 2/16 - 1
12-112884162-CC-TG c.97_98delinsTG p.P33C Missense 2/16 - 1
12-112884162-CCT-GAG c.97_99delinsGAG p.P33E Missense 2/16 - 1
12-112884162-CC-TT c.97_98delinsTT p.P33F Missense 2/16 - 1
12-112884162-CCT-TGG c.97_99delinsTGG p.P33W Missense 2/16 - 1
12-112884162-C-G c.97C>G p.P33A Missense 2/16 - 2
12-112884162-C-T c.97C>T p.P33S Missense 2/16 - 1
12-112884163-C-A c.98C>A p.P33H Missense 2/16 - 1
12-112884163-C-G c.98C>G p.P33R Missense 2/16 - 2
12-112884163-C-T c.98C>T p.P33L Missense 2/16 - 9
12-112884163-CT-AA c.98_99delinsAA p.P33Q Missense 2/16 - 1
12-112884165-A-G c.100A>G p.S34G Missense 2/16 - 2
12-112884165-AG-CA c.100_101delinsCA p.S34H Missense 2/16 - 1
12-112884165-AG-CC c.100_101delinsCC p.S34P Missense 2/16 - 1
12-112884165-AG-CT c.100_101inv p.S34L Missense 2/16 - 1
12-112884165-AG-GA c.100_101delinsGA p.S34D Missense 2/16 - 1
12-112884165-AG-GC c.100_101delinsGC p.S34A Missense 2/16 - 3
12-112884165-AG-GT c.100_101delinsGT p.S34V Missense 2/16 - 1
12-112884165-AG-TA c.100_101delinsTA p.S34Y Missense 2/16 - 1
12-112884165-AGT-CAA c.100_102delinsCAA p.S34Q Missense 2/16 - 1
12-112884165-AGT-GAG c.100_102delinsGAG p.S34E Missense 2/16 - 1
12-112884165-AG-TT c.100_101delinsTT p.S34F Missense 2/16 - 1
12-112884165-AGT-TGG c.100_102delinsTGG p.S34W Missense 2/16 - 1
12-112884165-A-T c.100A>T p.S34C Missense 2/16 - 4
12-112884166-G-A c.101G>A p.S34N Missense 2/16 - 1
12-112884166-G-C c.101G>C p.S34T Missense 2/16 - 1
12-112884166-G-T c.101G>T p.S34I Missense 2/16 - 1
12-112884166-GT-AG c.101_102delinsAG p.S34K Missense 2/16 - 1
12-112884166-GT-TG c.101_102delinsTG p.S34M Missense 2/16 - 1
12-112884165-A-C c.100A>C p.S34R Missense 2/16 - 1
12-112884167-T-A c.102T>A p.S34R Missense 2/16 - 1
12-112884167-T-C c.102T>C p.S34= Synonymous 2/16 - 1
12-112884167-T-G c.102T>G p.S34R Missense 2/16 - 1
12-112884168-AAA-CAT c.103_105delinsCAT p.K35H Missense 2/16 - 1
12-112884168-AAA-GAC c.103_105delinsGAC p.K35D Missense 2/16 - 1
12-112884168-AAA-TAT c.103_105delinsTAT p.K35Y Missense 2/16 - 1
12-112884168-AAA-TGG c.103_105delinsTGG p.K35W Missense 2/16 - 1
12-112884168-AAA-TGT c.103_105delinsTGT p.K35C Missense 2/16 - 1
12-112884168-AAA-TTT c.103_105inv p.K35F Missense 2/16 - 1
12-112884168-AA-CC c.103_104delinsCC p.K35P Missense 2/16 - 1
12-112884168-AA-CT c.103_104delinsCT p.K35L Missense 2/16 - 1
12-112884168-AA-GC c.103_104delinsGC p.K35A Missense 2/16 - 2
12-112884168-AA-GG c.103_104delinsGG p.K35G Missense 2/16 - 1
12-112884168-AA-GT c.103_104delinsGT p.K35V Missense 2/16 - 1
12-112884168-A-C c.103A>C p.K35Q Missense 2/16 - 2
12-112884168-A-G c.103A>G p.K35E Missense 2/16 - 2
12-112884169-AA-GC c.104_105delinsGC p.K35S Missense 2/16 - 1
12-112884169-AA-TG c.104_105delinsTG p.K35M Missense 2/16 - 1
12-112884169-A-C c.104A>C p.K35T Missense 2/16 - 1
12-112884169-A-G c.104A>G p.K35R Missense 2/16 - 2
12-112884169-A-T c.104A>T p.K35I Missense 2/16 - 1
12-112884170-A-C c.105A>C p.K35N Missense 2/16 - 1
12-112884170-A-G c.105A>G p.K35= Synonymous 2/16 - 1
12-112884170-A-T c.105A>T p.K35N Missense 2/16 - 1
12-112884171-A-G c.106A>G p.S36G Missense 2/16 - 1
12-112884171-AG-CA c.106_107delinsCA p.S36H Missense 2/16 - 1
12-112884171-AG-CC c.106_107delinsCC p.S36P Missense 2/16 - 1
12-112884171-AG-CT c.106_107inv p.S36L Missense 2/16 - 1
12-112884171-AG-GA c.106_107delinsGA p.S36D Missense 2/16 - 1
12-112884171-AG-GC c.106_107delinsGC p.S36A Missense 2/16 - 1
12-112884171-AG-GT c.106_107delinsGT p.S36V Missense 2/16 - 1
12-112884171-AG-TA c.106_107delinsTA p.S36Y Missense 2/16 - 1
12-112884171-AGT-CAA c.106_108delinsCAA p.S36Q Missense 2/16 - 1
12-112884171-AGT-GAG c.106_108delinsGAG p.S36E Missense 2/16 - 1
12-112884171-AG-TT c.106_107delinsTT p.S36F Missense 2/16 - 1
12-112884171-AGT-TGG c.106_108delinsTGG p.S36W Missense 2/16 - 1
12-112884171-A-T c.106A>T p.S36C Missense 2/16 - 1
12-112884172-G-A c.107G>A p.S36N Missense 2/16 - 2
12-112884172-G-C c.107G>C p.S36T Missense 2/16 - 2
12-112884172-G-T c.107G>T p.S36I Missense 2/16 - 1
12-112884172-GT-AG c.107_108delinsAG p.S36K Missense 2/16 - 1
12-112884172-GT-TG c.107_108delinsTG p.S36M Missense 2/16 - 1
12-112884171-A-C c.106A>C p.S36R Missense 2/16 - 1
12-112884173-T-A c.108T>A p.S36R Missense 2/16 - 1
12-112884173-T-C c.108T>C p.S36= Synonymous 2/16 - 1
12-112884173-T-G c.108T>G p.S36R Missense 2/16 - 1
12-112884174-AA-CC c.109_110delinsCC p.N37P Missense 2/16 - 1
12-112884174-AAC-CAA c.109_111delinsCAA p.N37Q Missense 2/16 - 1
12-112884174-AAC-GAG c.109_111delinsGAG p.N37E Missense 2/16 - 1
12-112884174-AA-CT c.109_110delinsCT p.N37L Missense 2/16 - 1
12-112884174-AAC-TGG c.109_111delinsTGG p.N37W Missense 2/16 - 1
12-112884174-AA-GC c.109_110delinsGC p.N37A Missense 2/16 - 1
12-112884174-AA-GG c.109_110delinsGG p.N37G Missense 2/16 - 1
12-112884174-AA-GT c.109_110delinsGT p.N37V Missense 2/16 - 2
12-112884174-AA-TG c.109_110delinsTG p.N37C Missense 2/16 - 1
12-112884174-AA-TT c.109_110inv p.N37F Missense 2/16 - 1
12-112884174-A-C c.109A>C p.N37H Missense 2/16 - 1
12-112884174-A-G c.109A>G p.N37D Missense 2/16 - 1
12-112884174-A-T c.109A>T p.N37Y Missense 2/16 - 1
12-112884175-A-C c.110A>C p.N37T Missense 2/16 - 2
12-112884175-AC-GG c.110_111delinsGG p.N37R Missense 2/16 - 1
12-112884175-AC-TG c.110_111delinsTG p.N37M Missense 2/16 - 1
12-112884175-A-G c.110A>G p.N37S Missense 2/16 - 1
12-112884175-A-T c.110A>T p.N37I Missense 2/16 - 1
12-112884176-C-A c.111C>A p.N37K Missense 2/16 - 3
12-112884176-C-G c.111C>G p.N37K Missense 2/16 - 2
12-112884177-C-A c.112C>A p.P38T Missense 2/16 - 1
12-112884177-CC-AA c.112_113delinsAA p.P38N Missense 2/16 - 1
12-112884177-CC-AT c.112_113delinsAT p.P38I Missense 2/16 - 6
12-112884177-CC-GA c.112_113delinsGA p.P38D Missense 2/16 - 3
12-112884177-CC-GG c.112_113inv p.P38G Missense 2/16 - 9
12-112884177-CC-GT c.112_113delinsGT p.P38V Missense 2/16 - 1
12-112884177-CC-TA c.112_113delinsTA p.P38Y Missense 2/16 - 1
12-112884177-CCT-AAG c.112_114delinsAAG p.P38K Missense 2/16 - 2
12-112884177-CCT-ATG c.112_114delinsATG p.P38M Missense 2/16 - 1
12-112884177-CC-TG c.112_113delinsTG p.P38C Missense 2/16 - 2
12-112884177-CCT-GAG c.112_114delinsGAG p.P38E Missense 2/16 - 1
12-112884177-CC-TT c.112_113delinsTT p.P38F Missense 2/16 - 1
12-112884177-CCT-TGG c.112_114delinsTGG p.P38W Missense 2/16 - 1
12-112884177-C-G c.112C>G p.P38A Missense 2/16 - 14
12-112884177-C-T c.112C>T p.P38S Missense 2/16 - 5
12-112884178-C-A c.113C>A p.P38H Missense 2/16 - 2
12-112884178-C-G c.113C>G p.P38R Missense 2/16 - 1
12-112884178-C-T c.113C>T p.P38L Missense 2/16 - 2
12-112884178-CT-AA c.113_114delinsAA p.P38Q Missense 2/16 - 1
12-112884179-T-A c.114T>A p.P38= Synonymous 2/16 - 1
12-112884179-T-C c.114T>C p.P38= Synonymous 2/16 - 1
12-112884179-T-G c.114T>G p.P38= Synonymous 2/16 - 1
12-112884180-G-A c.115G>A p.G39R Missense 2/16 - 2
12-112884180-G-C c.115G>C p.G39R Missense 2/16 - 2
12-112884180-GG-AA c.115_116delinsAA p.G39K Missense 2/16 - 1
12-112884180-GGA-AAC c.115_117delinsAAC p.G39N Missense 2/16 - 1
12-112884180-GGA-AGC c.115_117delinsAGC p.G39S Missense 2/16 - 1
12-112884180-GGA-ATG c.115_117delinsATG p.G39M Missense 2/16 - 1
12-112884180-GG-AC c.115_116delinsAC p.G39T Missense 2/16 - 1
12-112884180-GGA-CAT c.115_117delinsCAT p.G39H Missense 2/16 - 1
12-112884180-GG-AT c.115_116delinsAT p.G39I Missense 2/16 - 1
12-112884180-GGA-TAT c.115_117delinsTAT p.G39Y Missense 2/16 - 1
12-112884180-GGA-TGG c.115_117delinsTGG p.G39W Missense 2/16 - 1
12-112884180-GGA-TGT c.115_117delinsTGT p.G39C Missense 2/16 - 1
12-112884180-GGA-TTT c.115_117delinsTTT p.G39F Missense 2/16 - 1
12-112884180-GG-CA c.115_116delinsCA p.G39Q Missense 2/16 - 1
12-112884180-GG-CC c.115_116inv p.G39P Missense 2/16 - 1
12-112884180-GG-CT c.115_116delinsCT p.G39L Missense 2/16 - 1
12-112884181-G-A c.116G>A p.G39E Missense 2/16 - 1
12-112884181-GA-AC c.116_117delinsAC p.G39D Missense 2/16 - 2
12-112884181-G-C c.116G>C p.G39A Missense 2/16 - 1
12-112884181-G-T c.116G>T p.G39V Missense 2/16 - 1
12-112884183-G-A c.118G>A p.D40N Missense 2/16 - 2
12-112884183-GA-AC c.118_119delinsAC p.D40T Missense 2/16 - 1
12-112884183-GA-AG c.118_119delinsAG p.D40S Missense 2/16 - 1
12-112884183-GA-AT c.118_119delinsAT p.D40I Missense 2/16 - 1
12-112884183-GAC-AAG c.118_120delinsAAG p.D40K Missense 2/16 - 1
12-112884183-GAC-ATG c.118_120delinsATG p.D40M Missense 2/16 - 1
12-112884183-GA-CC c.118_119delinsCC p.D40P Missense 2/16 - 1
12-112884183-GAC-CAA c.118_120delinsCAA p.D40Q Missense 2/16 - 1
12-112884183-GA-CG c.118_119delinsCG p.D40R Missense 2/16 - 1
12-112884183-GA-CT c.118_119delinsCT p.D40L Missense 2/16 - 1
12-112884183-GAC-TGG c.118_120delinsTGG p.D40W Missense 2/16 - 1
12-112884183-GA-TG c.118_119delinsTG p.D40C Missense 2/16 - 1
12-112884183-GA-TT c.118_119delinsTT p.D40F Missense 2/16 - 1
12-112884183-G-C c.118G>C p.D40H Missense 2/16 - 1
12-112884183-G-T c.118G>T p.D40Y Missense 2/16 - 1
12-112884184-A-C c.119A>C p.D40A Missense 2/16 - 6
12-112884184-A-G c.119A>G p.D40G Missense 2/16 - 3
12-112884184-A-T c.119A>T p.D40V Missense 2/16 - 1
12-112884185-C-A c.120C>A p.D40E Missense 2/16 - 1
12-112884185-C-G c.120C>G p.D40E Missense 2/16 - 1
12-112884186-T-A c.121T>A p.F41I Missense 2/16 - 1
12-112884186-T-C c.121T>C p.F41L Missense 2/16 - 6
12-112884186-T-G c.121T>G p.F41V Missense 2/16 - 1
12-112884186-TT-AA c.121_122inv p.F41N Missense 2/16 - 1
12-112884186-TT-AC c.121_122delinsAC p.F41T Missense 2/16 - 1
12-112884186-TT-CA c.121_122delinsCA p.F41H Missense 2/16 - 1
12-112884186-TTC-AAG c.121_123delinsAAG p.F41K Missense 2/16 - 1
12-112884186-TTC-ATG c.121_123delinsATG p.F41M Missense 2/16 - 1
12-112884186-TT-CC c.121_122delinsCC p.F41P Missense 2/16 - 1
12-112884186-TTC-CAA c.121_123delinsCAA p.F41Q Missense 2/16 - 1
12-112884186-TT-CG c.121_122delinsCG p.F41R Missense 2/16 - 1
12-112884186-TTC-GAG c.121_123delinsGAG p.F41E Missense 2/16 - 1
12-112884186-TT-GA c.121_122delinsGA p.F41D Missense 2/16 - 1
12-112884186-TT-GC c.121_122delinsGC p.F41A Missense 2/16 - 4
12-112884186-TT-GG c.121_122delinsGG p.F41G Missense 2/16 - 1
12-112884188-C-A c.123C>A p.F41L Missense 2/16 - 6
12-112884188-C-G c.123C>G p.F41L Missense 2/16 - 6
12-112884187-T-A c.122T>A p.F41Y Missense 2/16 - 1
12-112884187-T-C c.122T>C p.F41S Missense 2/16 - 3
12-112884187-TC-GG c.122_123delinsGG p.F41W Missense 2/16 - 1
12-112884187-T-G c.122T>G p.F41C Missense 2/16 - 2
12-112884189-A-C c.124A>C p.T42P Missense 2/16 - 1
12-112884189-ACA-CAT c.124_126delinsCAT p.T42H Missense 2/16 - 1
12-112884189-ACA-GAC c.124_126delinsGAC p.T42D Missense 2/16 - 1
12-112884189-ACA-TAT c.124_126delinsTAT p.T42Y Missense 2/16 - 1
12-112884189-ACA-TGG c.124_126delinsTGG p.T42W Missense 2/16 - 1
12-112884189-ACA-TGT c.124_126inv p.T42C Missense 2/16 - 1
12-112884189-ACA-TTT c.124_126delinsTTT p.T42F Missense 2/16 - 1
12-112884189-AC-CA c.124_125delinsCA p.T42Q Missense 2/16 - 1
12-112884189-AC-CT c.124_125delinsCT p.T42L Missense 2/16 - 1
12-112884189-AC-GA c.124_125delinsGA p.T42E Missense 2/16 - 1
12-112884189-AC-GG c.124_125delinsGG p.T42G Missense 2/16 - 1
12-112884189-AC-GT c.124_125inv p.T42V Missense 2/16 - 1
12-112884189-A-G c.124A>G p.T42A Missense 2/16 - 51
12-112884189-A-T c.124A>T p.T42S Missense 2/16 - 5
12-112884190-C-A c.125C>A p.T42K Missense 2/16 - 2
12-112884190-CA-AC c.125_126delinsAC p.T42N Missense 2/16 - 1
12-112884190-CA-TG c.125_126inv p.T42M Missense 2/16 - 1
12-112884190-C-G c.125C>G p.T42R Missense 2/16 - 2
12-112884190-C-T c.125C>T p.T42I Missense 2/16 - 4
12-112884192-C-A c.127C>A p.L43I Missense 2/16 - 1
12-112884192-C-G c.127C>G p.L43V Missense 2/16 - 1
12-112884192-C-T c.127C>T p.L43F Missense 2/16 - 6
12-112884192-CT-AA c.127_128delinsAA p.L43N Missense 2/16 - 1
12-112884192-CT-AC c.127_128delinsAC p.L43T Missense 2/16 - 2
12-112884192-CT-AG c.127_128inv p.L43S Missense 2/16 - 1
12-112884192-CT-GA c.127_128delinsGA p.L43D Missense 2/16 - 1
12-112884192-CT-GC c.127_128delinsGC p.L43A Missense 2/16 - 1
12-112884192-CT-GG c.127_128delinsGG p.L43G Missense 2/16 - 1
12-112884192-CT-TA c.127_128delinsTA p.L43Y Missense 2/16 - 1
12-112884192-CTT-AAG c.127_129inv p.L43K Missense 2/16 - 1
12-112884192-CTT-ATG c.127_129delinsATG p.L43M Missense 2/16 - 1
12-112884192-CT-TG c.127_128delinsTG p.L43C Missense 2/16 - 1
12-112884192-CTT-GAG c.127_129delinsGAG p.L43E Missense 2/16 - 1
12-112884192-CTT-TGG c.127_129delinsTGG p.L43W Missense 2/16 - 1
12-112884193-T-A c.128T>A p.L43H Missense 2/16 - 1
12-112884193-T-C c.128T>C p.L43P Missense 2/16 - 2
12-112884193-T-G c.128T>G p.L43R Missense 2/16 - 1
12-112884193-TT-AA c.128_129inv p.L43Q Missense 2/16 - 1
12-112884195-T-A c.130T>A p.S44T Missense 2/16 - 1
12-112884195-T-C c.130T>C p.S44P Missense 2/16 - 1
12-112884195-TC-AA c.130_131delinsAA p.S44N Missense 2/16 - 1
12-112884195-TC-AT c.130_131delinsAT p.S44I Missense 2/16 - 1
12-112884195-TC-CA c.130_131delinsCA p.S44H Missense 2/16 - 1
12-112884195-TCC-AAG c.130_132delinsAAG p.S44K Missense 2/16 - 1
12-112884195-TCC-ATG c.130_132delinsATG p.S44M Missense 2/16 - 1
12-112884195-TCC-CAA c.130_132delinsCAA p.S44Q Missense 2/16 - 1
12-112884195-TC-CG c.130_131delinsCG p.S44R Missense 2/16 - 1
12-112884195-TCC-GAG c.130_132delinsGAG p.S44E Missense 2/16 - 1
12-112884195-TC-CT c.130_131delinsCT p.S44L Missense 2/16 - 1
12-112884195-TC-GA c.130_131inv p.S44D Missense 2/16 - 1
12-112884195-TC-GG c.130_131delinsGG p.S44G Missense 2/16 - 1
12-112884195-TC-GT c.130_131delinsGT p.S44V Missense 2/16 - 1
12-112884195-T-G c.130T>G p.S44A Missense 2/16 - 1
12-112884196-C-A c.131C>A p.S44Y Missense 2/16 - 1
12-112884196-CC-GG c.131_132inv p.S44W Missense 2/16 - 1
12-112884196-C-G c.131C>G p.S44C Missense 2/16 - 1
12-112884196-C-T c.131C>T p.S44F Missense 2/16 - 4
12-112884197-C-T c.132C>T p.S44= Synonymous 2/16 - 1
12-112884198-G-A c.133G>A p.V45I Missense 2/16 - 8
12-112884198-G-C c.133G>C p.V45L Missense 2/16 - 13
12-112884198-G-T c.133G>T p.V45F Missense 2/16 - 1
12-112884198-GT-AA c.133_134delinsAA p.V45N Missense 2/16 - 2
12-112884198-GT-AC c.133_134inv p.V45T Missense 2/16 - 1
12-112884198-GT-AG c.133_134delinsAG p.V45S Missense 2/16 - 1
12-112884198-GT-CA c.133_134delinsCA p.V45H Missense 2/16 - 1
12-112884198-GT-CC c.133_134delinsCC p.V45P Missense 2/16 - 1
12-112884198-GT-CG c.133_134delinsCG p.V45R Missense 2/16 - 1
12-112884198-GT-TA c.133_134delinsTA p.V45Y Missense 2/16 - 1
12-112884198-GTT-AAG c.133_135delinsAAG p.V45K Missense 2/16 - 1
12-112884198-GTT-ATG c.133_135delinsATG p.V45M Missense 2/16 - 1
12-112884198-GTT-CAA c.133_135delinsCAA p.V45Q Missense 2/16 - 1
12-112884198-GT-TG c.133_134delinsTG p.V45C Missense 2/16 - 1
12-112884198-GTT-TGG c.133_135delinsTGG p.V45W Missense 2/16 - 1
12-112884199-T-A c.134T>A p.V45D Missense 2/16 - 1
12-112884199-T-C c.134T>C p.V45A Missense 2/16 - 2
12-112884199-T-G c.134T>G p.V45G Missense 2/16 - 2
12-112884199-TT-AG c.134_135delinsAG p.V45E Missense 2/16 - 1
12-112884198-G-GT c.135dup p.R46* SpliceDonorInsertion 2/16 - 1
12-112884200-T-TC c.135_136insC p.R46Qfs*16 SpliceDonorInsertion 2/16 - 1
12-112884200-T-TG c.135_136insG p.R46Efs*16 SpliceDonorInsertion 2/16 - 1
12-112884200-T-TA c.136dup p.R46Kfs*16 SpliceDonorInsertion 2/16 - 1
12-112884201-A-G c.136A>G p.R46G Missense 2/16 - 3
12-112884201-AG-CA c.136_137delinsCA p.R46Q Missense 2/16 - 1
12-112884201-AG-CC c.136_137delinsCC p.R46P Missense 2/16 - 1
12-112884201-AG-CT c.136_137inv p.R46L Missense 2/16 - 1
12-112884201-AG-GA c.136_137delinsGA p.R46E Missense 2/16 - 1
12-112884201-AG-GC c.136_137delinsGC p.R46A Missense 2/16 - 1
12-112884201-AG-GT c.136_137delinsGT p.R46V Missense 2/16 - 1
12-112884202-G-A c.137G>A p.R46K Missense 2/16 - 2
12-112884202-G-C c.137G>C p.R46T Missense 2/16 - 1
12-112884202-G-T c.137G>T p.R46I Missense 2/16 - 1
12-112887941-G-C c.138-181G>C - IntronicSNV - 2/15 1
12-112888122-A-C c.138A>C p.R46S Missense 3/16 - 1
12-112888122-A-T c.138A>T p.R46S Missense 3/16 - 1
12-112888123-A-G c.139A>G p.R47G Missense 3/16 - 2
12-112888123-AGA-CAT c.139_141delinsCAT p.R47H Missense 3/16 - 1
12-112888123-AGA-GAC c.139_141delinsGAC p.R47D Missense 3/16 - 1
12-112888123-AGA-TAT c.139_141delinsTAT p.R47Y Missense 3/16 - 1
12-112888123-AGA-TGG c.139_141delinsTGG p.R47W Missense 3/16 - 1
12-112888123-AGA-TGT c.139_141delinsTGT p.R47C Missense 3/16 - 1
12-112888123-AGA-TTT c.139_141delinsTTT p.R47F Missense 3/16 - 1
12-112888123-AG-CA c.139_140delinsCA p.R47Q Missense 3/16 - 1
12-112888123-AG-CC c.139_140delinsCC p.R47P Missense 3/16 - 1
12-112888123-AG-CT c.139_140inv p.R47L Missense 3/16 - 1
12-112888123-AG-GA c.139_140delinsGA p.R47E Missense 3/16 - 1
12-112888123-AG-GC c.139_140delinsGC p.R47A Missense 3/16 - 1
12-112888123-AG-GT c.139_140delinsGT p.R47V Missense 3/16 - 1
12-112888124-G-A c.140G>A p.R47K Missense 3/16 - 3
12-112888124-GA-AC c.140_141delinsAC p.R47N Missense 3/16 - 1
12-112888124-GA-TG c.140_141delinsTG p.R47M Missense 3/16 - 1
12-112888124-G-C c.140G>C p.R47T Missense 3/16 - 1
12-112888124-G-T c.140G>T p.R47I Missense 3/16 - 1
12-112888125-A-C c.141A>C p.R47S Missense 3/16 - 1
12-112888125-A-T c.141A>T p.R47S Missense 3/16 - 1
12-112888126-AA-CC c.142_143delinsCC p.N48P Missense 3/16 - 1
12-112888126-AA-CT c.142_143delinsCT p.N48L Missense 3/16 - 1
12-112888126-AA-GC c.142_143delinsGC p.N48A Missense 3/16 - 2
12-112888126-AA-GG c.142_143delinsGG p.N48G Missense 3/16 - 1
12-112888126-AA-GT c.142_143delinsGT p.N48V Missense 3/16 - 1
12-112888126-AAT-CAA c.142_144delinsCAA p.N48Q Missense 3/16 - 1
12-112888126-AA-TG c.142_143delinsTG p.N48C Missense 3/16 - 1
12-112888126-AAT-GAG c.142_144delinsGAG p.N48E Missense 3/16 - 1
12-112888126-AA-TT c.142_143inv p.N48F Missense 3/16 - 1
12-112888126-AAT-TGG c.142_144delinsTGG p.N48W Missense 3/16 - 1
12-112888126-A-C c.142A>C p.N48H Missense 3/16 - 1
12-112888126-A-G c.142A>G p.N48D Missense 3/16 - 2
12-112888126-A-T c.142A>T p.N48Y Missense 3/16 - 1
12-112888124-G-GA c.143dup p.N48Kfs*14 Frameshift 3/16 - 1
12-112888127-A-C c.143A>C p.N48T Missense 3/16 - 1
12-112888127-A-G c.143A>G p.N48S Missense 3/16 - 9
12-112888127-A-T c.143A>T p.N48I Missense 3/16 - 1
12-112888127-AT-GG c.143_144delinsGG p.N48R Missense 3/16 - 1
12-112888127-AT-TG c.143_144delinsTG p.N48M Missense 3/16 - 1
12-112888128-T-A c.144T>A p.N48K Missense 3/16 - 4
12-112888128-T-G c.144T>G p.N48K Missense 3/16 - 4
12-112888129-G-A c.145G>A p.G49R Missense 3/16 - 2
12-112888129-G-C c.145G>C p.G49R Missense 3/16 - 1
12-112888129-GG-AA c.145_146delinsAA p.G49K Missense 3/16 - 1
12-112888129-GGA-AAC c.145_147delinsAAC p.G49N Missense 3/16 - 1
12-112888129-GGA-AGC c.145_147delinsAGC p.G49S Missense 3/16 - 1
12-112888129-GGA-ATG c.145_147delinsATG p.G49M Missense 3/16 - 1
12-112888129-GG-AC c.145_146delinsAC p.G49T Missense 3/16 - 1
12-112888129-GGA-CAT c.145_147delinsCAT p.G49H Missense 3/16 - 1
12-112888129-GG-AT c.145_146delinsAT p.G49I Missense 3/16 - 1
12-112888129-GGA-TAT c.145_147delinsTAT p.G49Y Missense 3/16 - 1
12-112888129-GGA-TGG c.145_147delinsTGG p.G49W Missense 3/16 - 1
12-112888129-GGA-TGT c.145_147delinsTGT p.G49C Missense 3/16 - 1
12-112888129-GGA-TTT c.145_147delinsTTT p.G49F Missense 3/16 - 1
12-112888129-GG-CA c.145_146delinsCA p.G49Q Missense 3/16 - 1
12-112888129-GG-CC c.145_146inv p.G49P Missense 3/16 - 1
12-112888129-GG-CT c.145_146delinsCT p.G49L Missense 3/16 - 1
12-112888130-G-A c.146G>A p.G49E Missense 3/16 - 1
12-112888130-GA-AC c.146_147delinsAC p.G49D Missense 3/16 - 1
12-112888130-G-C c.146G>C p.G49A Missense 3/16 - 2
12-112888130-G-T c.146G>T p.G49V Missense 3/16 - 1
12-112888132-G-A c.148G>A p.A50T Missense 3/16 - 5
12-112888132-G-C c.148G>C p.A50P Missense 3/16 - 1
12-112888132-GC-AA c.148_149delinsAA p.A50N Missense 3/16 - 1
12-112888132-GC-AT c.148_149delinsAT p.A50I Missense 3/16 - 1
12-112888132-GC-CA c.148_149delinsCA p.A50H Missense 3/16 - 2
12-112888132-GC-CG c.148_149delinsCG p.A50R Missense 3/16 - 2
12-112888132-GC-CT c.148_149delinsCT p.A50L Missense 3/16 - 1
12-112888132-GC-TA c.148_149delinsTA p.A50Y Missense 3/16 - 1
12-112888132-GCT-AAG c.148_150delinsAAG p.A50K Missense 3/16 - 1
12-112888132-GCT-ATG c.148_150delinsATG p.A50M Missense 3/16 - 1
12-112888132-GCT-CAA c.148_150delinsCAA p.A50Q Missense 3/16 - 1
12-112888132-GC-TG c.148_149delinsTG p.A50C Missense 3/16 - 1
12-112888132-GC-TT c.148_149delinsTT p.A50F Missense 3/16 - 1
12-112888132-GCT-TGG c.148_150delinsTGG p.A50W Missense 3/16 - 2
12-112888132-G-T c.148G>T p.A50S Missense 3/16 - 1
12-112888133-C-A c.149C>A p.A50D Missense 3/16 - 2
12-112888133-C-G c.149C>G p.A50G Missense 3/16 - 3
12-112888133-C-T c.149C>T p.A50V Missense 3/16 - 2
12-112888133-CT-AG c.149_150inv p.A50E Missense 3/16 - 1
12-112888134-T-A c.150T>A p.A50= Synonymous 3/16 - 2
12-112888134-T-C c.150T>C p.A50= Synonymous 3/16 - 3
12-112888134-T-G c.150T>G p.A50= Synonymous 3/16 - 2
12-112888135-G-A c.151G>A p.V51I Missense 3/16 - 1
12-112888135-G-C c.151G>C p.V51L Missense 3/16 - 1
12-112888135-G-T c.151G>T p.V51F Missense 3/16 - 1
12-112888135-GT-AA c.151_152delinsAA p.V51N Missense 3/16 - 1
12-112888135-GT-AC c.151_152inv p.V51T Missense 3/16 - 1
12-112888135-GT-AG c.151_152delinsAG p.V51S Missense 3/16 - 1
12-112888135-GT-CA c.151_152delinsCA p.V51H Missense 3/16 - 1
12-112888135-GTC-AAG c.151_153delinsAAG p.V51K Missense 3/16 - 1
12-112888135-GTC-ATG c.151_153delinsATG p.V51M Missense 3/16 - 1
12-112888135-GT-CC c.151_152delinsCC p.V51P Missense 3/16 - 1
12-112888135-GTC-CAA c.151_153delinsCAA p.V51Q Missense 3/16 - 1
12-112888135-GT-CG c.151_152delinsCG p.V51R Missense 3/16 - 1
12-112888135-GTC-TGG c.151_153delinsTGG p.V51W Missense 3/16 - 1
12-112888135-GT-TA c.151_152delinsTA p.V51Y Missense 3/16 - 1
12-112888135-GT-TG c.151_152delinsTG p.V51C Missense 3/16 - 1
12-112888136-T-A c.152T>A p.V51D Missense 3/16 - 1
12-112888136-T-C c.152T>C p.V51A Missense 3/16 - 4
12-112888136-TC-AG c.152_153delinsAG p.V51E Missense 3/16 - 1
12-112888136-T-G c.152T>G p.V51G Missense 3/16 - 2
12-112888137-C-T c.153C>T p.V51= Synonymous 3/16 - 1
12-112888138-A-C c.154A>C p.T52P Missense 3/16 - 1
12-112888138-AC-CA c.154_155delinsCA p.T52H Missense 3/16 - 1
12-112888138-ACC-CAA c.154_156delinsCAA p.T52Q Missense 3/16 - 1
12-112888138-ACC-GAG c.154_156delinsGAG p.T52E Missense 3/16 - 1
12-112888138-AC-CT c.154_155delinsCT p.T52L Missense 3/16 - 1
12-112888138-ACC-TGG c.154_156delinsTGG p.T52W Missense 3/16 - 1
12-112888138-AC-GA c.154_155delinsGA p.T52D Missense 3/16 - 1
12-112888138-AC-GG c.154_155delinsGG p.T52G Missense 3/16 - 1
12-112888138-AC-GT c.154_155inv p.T52V Missense 3/16 - 1
12-112888138-AC-TA c.154_155delinsTA p.T52Y Missense 3/16 - 1
12-112888138-AC-TG c.154_155delinsTG p.T52C Missense 3/16 - 1
12-112888138-AC-TT c.154_155delinsTT p.T52F Missense 3/16 - 1
12-112888138-A-G c.154A>G p.T52A Missense 3/16 - 5
12-112888138-A-T c.154A>T p.T52S Missense 3/16 - 9
12-112888139-C-A c.155C>A p.T52N Missense 3/16 - 2
12-112888139-CC-AG c.155_156delinsAG p.T52K Missense 3/16 - 1
12-112888139-CC-GG c.155_156inv p.T52R Missense 3/16 - 1
12-112888139-CC-TG c.155_156delinsTG p.T52M Missense 3/16 - 1
12-112888139-C-G c.155C>G p.T52S Missense 3/16 - 18
12-112888139-C-T c.155C>T p.T52I Missense 3/16 - 23
12-112888140-C-A c.156C>A p.T52= Synonymous 3/16 - 1
12-112888140-C-G c.156C>G p.T52= Synonymous 3/16 - 1
12-112888140-C-T c.156C>T p.T52= Synonymous 3/16 - 1
12-112888138-A-AC c.157dup p.H53Pfs*9 Frameshift 3/16 - 1
12-112888141-C-A c.157C>A p.H53N Missense 3/16 - 4
12-112888141-CA-AC c.157_158delinsAC p.H53T Missense 3/16 - 1
12-112888141-CA-AG c.157_158delinsAG p.H53S Missense 3/16 - 1
12-112888141-CA-AT c.157_158delinsAT p.H53I Missense 3/16 - 1
12-112888141-CAC-AAG c.157_159delinsAAG p.H53K Missense 3/16 - 1
12-112888141-CAC-ATG c.157_159delinsATG p.H53M Missense 3/16 - 1
12-112888141-CAC-GAG c.157_159delinsGAG p.H53E Missense 3/16 - 1
12-112888141-CAC-TGG c.157_159delinsTGG p.H53W Missense 3/16 - 1
12-112888141-CA-GC c.157_158delinsGC p.H53A Missense 3/16 - 1
12-112888141-CA-GG c.157_158delinsGG p.H53G Missense 3/16 - 1
12-112888141-CA-GT c.157_158delinsGT p.H53V Missense 3/16 - 1
12-112888141-CA-TG c.157_158inv p.H53C Missense 3/16 - 1
12-112888141-CA-TT c.157_158delinsTT p.H53F Missense 3/16 - 1
12-112888141-C-G c.157C>G p.H53D Missense 3/16 - 1
12-112888141-C-T c.157C>T p.H53Y Missense 3/16 - 1
12-112888142-A-C c.158A>C p.H53P Missense 3/16 - 1
12-112888142-A-G c.158A>G p.H53R Missense 3/16 - 1
12-112888142-A-T c.158A>T p.H53L Missense 3/16 - 1
12-112888143-C-A c.159C>A p.H53Q Missense 3/16 - 2
12-112888143-C-G c.159C>G p.H53Q Missense 3/16 - 2
12-112888143-C-T c.159C>T p.H53= Synonymous 3/16 - 1
12-112888144-A-C c.160A>C p.I54L Missense 3/16 - 1
12-112888144-A-G c.160A>G p.I54V Missense 3/16 - 5
12-112888144-A-T c.160A>T p.I54F Missense 3/16 - 1
12-112888144-AT-CA c.160_161delinsCA p.I54H Missense 3/16 - 1
12-112888144-AT-CC c.160_161delinsCC p.I54P Missense 3/16 - 1
12-112888144-ATC-CAA c.160_162delinsCAA p.I54Q Missense 3/16 - 1
12-112888144-ATC-GAG c.160_162delinsGAG p.I54E Missense 3/16 - 1
12-112888144-ATC-TGG c.160_162delinsTGG p.I54W Missense 3/16 - 1
12-112888144-AT-GA c.160_161delinsGA p.I54D Missense 3/16 - 1
12-112888144-AT-GC c.160_161delinsGC p.I54A Missense 3/16 - 1
12-112888144-AT-GG c.160_161delinsGG p.I54G Missense 3/16 - 1
12-112888144-AT-TA c.160_161delinsTA p.I54Y Missense 3/16 - 1
12-112888144-AT-TG c.160_161delinsTG p.I54C Missense 3/16 - 1
12-112888145-T-A c.161T>A p.I54N Missense 3/16 - 1
12-112888145-T-C c.161T>C p.I54T Missense 3/16 - 3
12-112888145-TC-AG c.161_162delinsAG p.I54K Missense 3/16 - 1
12-112888145-TC-GG c.161_162delinsGG p.I54R Missense 3/16 - 1
12-112888145-T-G c.161T>G p.I54S Missense 3/16 - 1
12-112888146-C-G c.162C>G p.I54M Missense 3/16 - 3
12-112888147-AA-CC c.163_164delinsCC p.K55P Missense 3/16 - 1
12-112888147-AA-CT c.163_164delinsCT p.K55L Missense 3/16 - 1
12-112888147-AA-GC c.163_164delinsGC p.K55A Missense 3/16 - 1
12-112888147-AAG-CAT c.163_165delinsCAT p.K55H Missense 3/16 - 1
12-112888147-AA-GG c.163_164delinsGG p.K55G Missense 3/16 - 1
12-112888147-AAG-GAC c.163_165delinsGAC p.K55D Missense 3/16 - 1
12-112888147-AA-GT c.163_164delinsGT p.K55V Missense 3/16 - 2
12-112888147-AAG-TAT c.163_165delinsTAT p.K55Y Missense 3/16 - 1
12-112888147-AAG-TGT c.163_165delinsTGT p.K55C Missense 3/16 - 1
12-112888147-AAG-TTT c.163_165delinsTTT p.K55F Missense 3/16 - 1
12-112888147-AA-TG c.163_164delinsTG p.K55W Missense 3/16 - 1
12-112888147-A-C c.163A>C p.K55Q Missense 3/16 - 1
12-112888147-A-G c.163A>G p.K55E Missense 3/16 - 1
12-112888148-A-C c.164A>C p.K55T Missense 3/16 - 2
12-112888148-A-G c.164A>G p.K55R Missense 3/16 - 4
12-112888148-AG-GC c.164_165delinsGC p.K55S Missense 3/16 - 1
12-112888148-AG-TC c.164_165delinsTC p.K55I Missense 3/16 - 1
12-112888148-A-T c.164A>T p.K55M Missense 3/16 - 1
12-112888149-G-C c.165G>C p.K55N Missense 3/16 - 5
12-112888149-G-T c.165G>T p.K55N Missense 3/16 - 7
12-112888150-A-C c.166A>C p.I56L Missense 3/16 - 1
12-112888150-A-G c.166A>G p.I56V Missense 3/16 - 11
12-112888150-A-T c.166A>T p.I56F Missense 3/16 - 1
12-112888150-AT-CA c.166_167delinsCA p.I56H Missense 3/16 - 1
12-112888150-AT-CC c.166_167delinsCC p.I56P Missense 3/16 - 1
12-112888150-AT-GA c.166_167delinsGA p.I56D Missense 3/16 - 1
12-112888150-AT-GC c.166_167delinsGC p.I56A Missense 3/16 - 1
12-112888150-AT-GG c.166_167delinsGG p.I56G Missense 3/16 - 1
12-112888150-AT-TA c.166_167delinsTA p.I56Y Missense 3/16 - 1
12-112888150-ATT-CAA c.166_168delinsCAA p.I56Q Missense 3/16 - 1
12-112888150-AT-TG c.166_167delinsTG p.I56C Missense 3/16 - 1
12-112888150-ATT-GAG c.166_168delinsGAG p.I56E Missense 3/16 - 1
12-112888150-ATT-TGG c.166_168delinsTGG p.I56W Missense 3/16 - 1
12-112888151-T-A c.167T>A p.I56N Missense 3/16 - 1
12-112888151-T-C c.167T>C p.I56T Missense 3/16 - 3
12-112888151-T-G c.167T>G p.I56S Missense 3/16 - 1
12-112888151-TT-AG c.167_168delinsAG p.I56K Missense 3/16 - 1
12-112888151-TT-GG c.167_168delinsGG p.I56R Missense 3/16 - 1
12-112888150-AT-A c.168del p.Q57Rfs*32 Frameshift 3/16 - 1
12-112888152-T-A c.168T>A p.I56= Synonymous 3/16 - 1
12-112888152-T-C c.168T>C p.I56= Synonymous 3/16 - 1
12-112888152-T-G c.168T>G p.I56M Missense 3/16 - 1
12-112888153-C-A c.169C>A p.Q57K Missense 3/16 - 1
12-112888153-CA-AC c.169_170delinsAC p.Q57T Missense 3/16 - 1
12-112888153-CA-AT c.169_170delinsAT p.Q57M Missense 3/16 - 1
12-112888153-CAG-AAC c.169_171delinsAAC p.Q57N Missense 3/16 - 1
12-112888153-CAG-ATC c.169_171delinsATC p.Q57I Missense 3/16 - 1
12-112888153-CA-GC c.169_170delinsGC p.Q57A Missense 3/16 - 1
12-112888153-CA-GG c.169_170delinsGG p.Q57G Missense 3/16 - 1
12-112888153-CAG-GAC c.169_171delinsGAC p.Q57D Missense 3/16 - 1
12-112888153-CA-GT c.169_170delinsGT p.Q57V Missense 3/16 - 1
12-112888153-CAG-TAT c.169_171delinsTAT p.Q57Y Missense 3/16 - 1
12-112888153-CAG-TGT c.169_171delinsTGT p.Q57C Missense 3/16 - 1
12-112888153-CAG-TTT c.169_171delinsTTT p.Q57F Missense 3/16 - 1
12-112888153-CA-TC c.169_170delinsTC p.Q57S Missense 3/16 - 1
12-112888153-CA-TG c.169_170inv p.Q57W Missense 3/16 - 1
12-112888153-C-G c.169C>G p.Q57E Missense 3/16 - 3
12-112888153-C-T c.169C>T p.Q57* Nonsense 3/16 - 1
12-112888154-A-C c.170A>C p.Q57P Missense 3/16 - 1
12-112888154-A-G c.170A>G p.Q57R Missense 3/16 - 2
12-112888154-A-T c.170A>T p.Q57L Missense 3/16 - 1
12-112888155-G-A c.171G>A p.Q57= Synonymous 3/16 - 1
12-112888155-G-C c.171G>C p.Q57H Missense 3/16 - 4
12-112888155-G-T c.171G>T p.Q57H Missense 3/16 - 4
12-112888156-AA-CC c.172_173delinsCC p.N58P Missense 3/16 - 1
12-112888156-AAC-CAA c.172_174delinsCAA p.N58Q Missense 3/16 - 2
12-112888156-AAC-GAG c.172_174delinsGAG p.N58E Missense 3/16 - 1
12-112888156-AA-CT c.172_173delinsCT p.N58L Missense 3/16 - 1
12-112888156-AAC-TGG c.172_174delinsTGG p.N58W Missense 3/16 - 1
12-112888156-AA-GC c.172_173delinsGC p.N58A Missense 3/16 - 2
12-112888156-AA-GG c.172_173delinsGG p.N58G Missense 3/16 - 1
12-112888156-AA-GT c.172_173delinsGT p.N58V Missense 3/16 - 1
12-112888156-AA-TG c.172_173delinsTG p.N58C Missense 3/16 - 1
12-112888156-AA-TT c.172_173inv p.N58F Missense 3/16 - 1
12-112888156-A-C c.172A>C p.N58H Missense 3/16 - 16
12-112888156-A-G c.172A>G p.N58D Missense 3/16 - 35
12-112888156-A-T c.172A>T p.N58Y Missense 3/16 - 26
12-112888157-A-C c.173A>C p.N58T Missense 3/16 - 1
12-112888157-AC-GG c.173_174delinsGG p.N58R Missense 3/16 - 1
12-112888157-AC-TG c.173_174delinsTG p.N58M Missense 3/16 - 1
12-112888157-A-G c.173A>G p.N58S Missense 3/16 - 29
12-112888157-A-T c.173A>T p.N58I Missense 3/16 - 3
12-112888158-C-A c.174C>A p.N58K Missense 3/16 - 23
12-112888158-C-G c.174C>G p.N58K Missense 3/16 - 29
12-112888158-C-T c.174C>T p.N58= Synonymous 3/16 - 1
12-112888159-A-C c.175A>C p.T59P Missense 3/16 - 1
12-112888159-AC-CA c.175_176delinsCA p.T59H Missense 3/16 - 1
12-112888159-AC-CT c.175_176delinsCT p.T59L Missense 3/16 - 1
12-112888159-AC-GA c.175_176delinsGA p.T59D Missense 3/16 - 1
12-112888159-AC-GG c.175_176delinsGG p.T59G Missense 3/16 - 1
12-112888159-AC-GT c.175_176inv p.T59V Missense 3/16 - 1
12-112888159-AC-TA c.175_176delinsTA p.T59Y Missense 3/16 - 1
12-112888159-ACT-CAA c.175_177delinsCAA p.T59Q Missense 3/16 - 1
12-112888159-AC-TG c.175_176delinsTG p.T59C Missense 3/16 - 1
12-112888159-ACT-GAG c.175_177delinsGAG p.T59E Missense 3/16 - 1
12-112888159-AC-TT c.175_176delinsTT p.T59F Missense 3/16 - 1
12-112888159-ACT-TGG c.175_177delinsTGG p.T59W Missense 3/16 - 1
12-112888159-A-G c.175A>G p.T59A Missense 3/16 - 11
12-112888159-CACT-C c.175_177del p.T59del InFrameDeletion 3/16 - 1
12-112888159-A-AC c.176dup p.G60Wfs*2 Frameshift 3/16 - 1
12-112888159-A-T c.175A>T p.T59S Missense 3/16 - 2
12-112888160-C-A c.176C>A p.T59N Missense 3/16 - 1
12-112888160-C-G c.176C>G p.T59S Missense 3/16 - 2
12-112888160-C-T c.176C>T p.T59I Missense 3/16 - 2
12-112888160-CT-AG c.176_177inv p.T59K Missense 3/16 - 1
12-112888160-CT-GG c.176_177delinsGG p.T59R Missense 3/16 - 1
12-112888160-CT-TG c.176_177delinsTG p.T59M Missense 3/16 - 1
12-112888161-T-A c.177T>A p.T59= Synonymous 3/16 - 1
12-112888161-T-C c.177T>C p.T59= Synonymous 3/16 - 2
12-112888161-T-G c.177T>G p.T59= Synonymous 3/16 - 1
12-112888162-G-A c.178G>A p.G60S Missense 3/16 - 10
12-112888162-G-C c.178G>C p.G60R Missense 3/16 - 43
12-112888162-GG-AA c.178_179delinsAA p.G60N Missense 3/16 - 1
12-112888162-GG-AC c.178_179delinsAC p.G60T Missense 3/16 - 1
12-112888162-GG-AT c.178_179delinsAT p.G60I Missense 3/16 - 2
12-112888162-GG-CA c.178_179delinsCA p.G60H Missense 3/16 - 1
12-112888162-GG-CC c.178_179inv p.G60P Missense 3/16 - 1
12-112888162-GG-CT c.178_179delinsCT p.G60L Missense 3/16 - 1
12-112888162-GG-TA c.178_179delinsTA p.G60Y Missense 3/16 - 1
12-112888162-GGT-AAG c.178_180delinsAAG p.G60K Missense 3/16 - 1
12-112888162-GGT-ATG c.178_180delinsATG p.G60M Missense 3/16 - 1
12-112888162-GGT-CAA c.178_180delinsCAA p.G60Q Missense 3/16 - 1
12-112888162-GG-TT c.178_179delinsTT p.G60F Missense 3/16 - 1
12-112888162-GGT-TGG c.178_180delinsTGG p.G60W Missense 3/16 - 1
12-112888162-G-T c.178G>T p.G60C Missense 3/16 - 12
12-112888160-CTGG-C c.179_181del p.G60del InFrameDeletion 3/16 - 4
12-112888163-G-A c.179G>A p.G60D Missense 3/16 - 3
12-112888163-G-C c.179G>C p.G60A Missense 3/16 - 47
12-112888163-G-T c.179G>T p.G60V Missense 3/16 - 78
12-112888163-GT-AG c.179_180delinsAG p.G60E Missense 3/16 - 4
12-112888163-GTGA-T c.179_182delinsT p.G60_D61delinsV MultiAAMissense 3/16 - 1
12-112888164-TG-AA c.180_181delinsAA p.D61N Missense 3/16 - 1
12-112888163-GTGA-G c.181_183del p.D61del InFrameDeletion 3/16 - 7
12-112888165-G-A c.181G>A p.D61N Missense 3/16 - 68
12-112888165-GA-AC c.181_182delinsAC p.D61T Missense 3/16 - 1
12-112888165-GA-AG c.181_182delinsAG p.D61S Missense 3/16 - 1
12-112888165-GA-AT c.181_182delinsAT p.D61I Missense 3/16 - 1
12-112888165-GA-CC c.181_182delinsCC p.D61P Missense 3/16 - 1
12-112888165-GA-CG c.181_182delinsCG p.D61R Missense 3/16 - 1
12-112888165-GA-CT c.181_182delinsCT p.D61L Missense 3/16 - 1
12-112888165-GAT-AAG c.181_183delinsAAG p.D61K Missense 3/16 - 1
12-112888165-GAT-ATG c.181_183delinsATG p.D61M Missense 3/16 - 1
12-112888165-GAT-CAA c.181_183delinsCAA p.D61Q Missense 3/16 - 1
12-112888165-GA-TG c.181_182delinsTG p.D61C Missense 3/16 - 1
12-112888165-GA-TT c.181_182delinsTT p.D61F Missense 3/16 - 1
12-112888165-GAT-TGG c.181_183delinsTGG p.D61W Missense 3/16 - 1
12-112888165-G-C c.181G>C p.D61H Missense 3/16 - 32
12-112888165-G-T c.181G>T p.D61Y Missense 3/16 - 168
12-112888166-A-C c.182A>C p.D61A Missense 3/16 - 43
12-112888166-A-G c.182A>G p.D61G Missense 3/16 - 175
12-112888166-A-T c.182A>T p.D61V Missense 3/16 - 78
12-112888165-GATT-G c.183_185del p.Y63del InFrameDeletion 3/16 - 1
12-112888167-T-A c.183T>A p.D61E Missense 3/16 - 2
12-112888167-T-G c.183T>G p.D61E Missense 3/16 - 1
12-112888166-AT-A c.184del p.Y62Tfs*27 Frameshift 3/16 - 1
12-112888168-T-A c.184T>A p.Y62N Missense 3/16 - 10
12-112888168-TA-AC c.184_185delinsAC p.Y62T Missense 3/16 - 1
12-112888168-TA-AT c.184_185delinsAT p.Y62I Missense 3/16 - 1
12-112888168-TAC-AAG c.184_186delinsAAG p.Y62K Missense 3/16 - 1
12-112888168-TAC-ATG c.184_186delinsATG p.Y62M Missense 3/16 - 1
12-112888168-TA-CC c.184_185delinsCC p.Y62P Missense 3/16 - 1
12-112888168-TAC-CAA c.184_186delinsCAA p.Y62Q Missense 3/16 - 1
12-112888168-TA-CG c.184_185delinsCG p.Y62R Missense 3/16 - 1
12-112888168-TAC-GAG c.184_186delinsGAG p.Y62E Missense 3/16 - 3
12-112888168-TA-CT c.184_185delinsCT p.Y62L Missense 3/16 - 1
12-112888168-TA-GC c.184_185delinsGC p.Y62A Missense 3/16 - 1
12-112888168-TA-GG c.184_185delinsGG p.Y62G Missense 3/16 - 1
12-112888168-TA-GT c.184_185delinsGT p.Y62V Missense 3/16 - 1
12-112888168-T-C c.184T>C p.Y62H Missense 3/16 - 5
12-112888168-T-G c.184T>G p.Y62D Missense 3/16 - 60
12-112888169-A-C c.185A>C p.Y62S Missense 3/16 - 2
12-112888169-AC-GG c.185_186delinsGG p.Y62W Missense 3/16 - 1
12-112888169-A-G c.185A>G p.Y62C Missense 3/16 - 7
12-112888169-A-T c.185A>T p.Y62F Missense 3/16 - 4
12-112888167-TTAC-T c.186_188del p.Y63del InFrameDeletion 3/16 - 2
12-112888170-C-A c.186C>A p.Y62* Nonsense 3/16 - 3
12-112888170-C-G c.186C>G p.Y62* Nonsense 3/16 - 3
12-112888170-C-T c.186C>T p.Y62= Synonymous 3/16 - 2
12-112888171-T-A c.187T>A p.Y63N Missense 3/16 - 2
12-112888171-TA-AC c.187_188delinsAC p.Y63T Missense 3/16 - 1
12-112888171-TA-AT c.187_188delinsAT p.Y63I Missense 3/16 - 1
12-112888171-TA-CC c.187_188delinsCC p.Y63P Missense 3/16 - 1
12-112888171-TA-CG c.187_188delinsCG p.Y63R Missense 3/16 - 1
12-112888171-TA-CT c.187_188delinsCT p.Y63L Missense 3/16 - 1
12-112888171-TA-GC c.187_188delinsGC p.Y63A Missense 3/16 - 1
12-112888171-TA-GG c.187_188delinsGG p.Y63G Missense 3/16 - 1
12-112888171-TA-GT c.187_188delinsGT p.Y63V Missense 3/16 - 1
12-112888171-TAT-AAG c.187_189delinsAAG p.Y63K Missense 3/16 - 1
12-112888171-TAT-ATG c.187_189delinsATG p.Y63M Missense 3/16 - 1
12-112888171-TAT-CAA c.187_189delinsCAA p.Y63Q Missense 3/16 - 1
12-112888171-TAT-GAG c.187_189delinsGAG p.Y63E Missense 3/16 - 1
12-112888171-T-C c.187T>C p.Y63H Missense 3/16 - 2
12-112888171-T-G c.187T>G p.Y63D Missense 3/16 - 2
12-112888172-A-C c.188A>C p.Y63S Missense 3/16 - 2
12-112888172-A-G c.188A>G p.Y63C Missense 3/16 - 84
12-112888172-A-T c.188A>T p.Y63F Missense 3/16 - 7
12-112888172-AT-GG c.188_189delinsGG p.Y63W Missense 3/16 - 1
12-112888173-T-A c.189T>A p.Y63* Nonsense 3/16 - 2
12-112888173-T-C c.189T>C p.Y63= Synonymous 3/16 - 2
12-112888173-T-G c.189T>G p.Y63* Nonsense 3/16 - 2
12-112888174-G-A c.190G>A p.D64N Missense 3/16 - 2
12-112888174-GA-AC c.190_191delinsAC p.D64T Missense 3/16 - 1
12-112888174-GA-AG c.190_191delinsAG p.D64S Missense 3/16 - 1
12-112888174-GA-AT c.190_191delinsAT p.D64I Missense 3/16 - 1
12-112888174-GAC-AAG c.190_192delinsAAG p.D64K Missense 3/16 - 1
12-112888174-GAC-ATG c.190_192delinsATG p.D64M Missense 3/16 - 1
12-112888174-GA-CC c.190_191delinsCC p.D64P Missense 3/16 - 1
12-112888174-GAC-CAA c.190_192delinsCAA p.D64Q Missense 3/16 - 1
12-112888174-GAC-CTTGAGGAGCTTGCAGAG c.190_192delinsCTTGAGGAGCTTGCAGAG p.D64delinsLEELAE MultiAAMissense 3/16 - 1
12-112888174-GA-CG c.190_191delinsCG p.D64R Missense 3/16 - 1
12-112888174-GA-CT c.190_191delinsCT p.D64L Missense 3/16 - 1
12-112888174-GAC-TGG c.190_192delinsTGG p.D64W Missense 3/16 - 1
12-112888174-GA-TG c.190_191delinsTG p.D64C Missense 3/16 - 1
12-112888174-GA-TT c.190_191delinsTT p.D64F Missense 3/16 - 1
12-112888174-G-C c.190G>C p.D64H Missense 3/16 - 1
12-112888174-G-T c.190G>T p.D64Y Missense 3/16 - 1
12-112888175-A-C c.191A>C p.D64A Missense 3/16 - 1
12-112888175-A-G c.191A>G p.D64G Missense 3/16 - 2
12-112888175-A-T c.191A>T p.D64V Missense 3/16 - 3
12-112888176-C-A c.192C>A p.D64E Missense 3/16 - 1
12-112888176-C-G c.192C>G p.D64E Missense 3/16 - 1
12-112888177-C-A c.193C>A p.L65M Missense 3/16 - 1
12-112888177-C-G c.193C>G p.L65V Missense 3/16 - 1
12-112888177-CT-AA c.193_194delinsAA p.L65K Missense 3/16 - 1
12-112888177-CT-AC c.193_194delinsAC p.L65T Missense 3/16 - 1
12-112888177-CT-GA c.193_194delinsGA p.L65E Missense 3/16 - 1
12-112888177-CTG-AAC c.193_195delinsAAC p.L65N Missense 3/16 - 1
12-112888177-CTG-ATC c.193_195delinsATC p.L65I Missense 3/16 - 1
12-112888177-CT-GC c.193_194delinsGC p.L65A Missense 3/16 - 3
12-112888177-CT-GG c.193_194delinsGG p.L65G Missense 3/16 - 1
12-112888177-CTG-GAC c.193_195delinsGAC p.L65D Missense 3/16 - 1
12-112888177-CTG-TAT c.193_195delinsTAT p.L65Y Missense 3/16 - 1
12-112888177-CTG-TGT c.193_195delinsTGT p.L65C Missense 3/16 - 1
12-112888177-CTG-TTT c.193_195delinsTTT p.L65F Missense 3/16 - 1
12-112888177-CT-TC c.193_194delinsTC p.L65S Missense 3/16 - 1
12-112888177-CT-TG c.193_194delinsTG p.L65W Missense 3/16 - 1
12-112888178-T-A c.194T>A p.L65Q Missense 3/16 - 1
12-112888178-T-C c.194T>C p.L65P Missense 3/16 - 2
12-112888178-T-G c.194T>G p.L65R Missense 3/16 - 1
12-112888178-TG-AT c.194_195delinsAT p.L65H Missense 3/16 - 1
12-112888177-C-T c.193C>T p.L65= Synonymous 3/16 - 3
12-112888179-G-A c.195G>A p.L65= Synonymous 3/16 - 2
12-112888179-G-C c.195G>C p.L65= Synonymous 3/16 - 2
12-112888179-G-T c.195G>T p.L65= Synonymous 3/16 - 2
12-112888179-TG-T c.195del p.Y66Mfs*23 Frameshift 3/16 - 1
12-112888180-T-A c.196T>A p.Y66N Missense 3/16 - 1
12-112888180-TA-AC c.196_197delinsAC p.Y66T Missense 3/16 - 1
12-112888180-TA-AT c.196_197delinsAT p.Y66I Missense 3/16 - 1
12-112888180-TA-CC c.196_197delinsCC p.Y66P Missense 3/16 - 1
12-112888180-TA-CG c.196_197delinsCG p.Y66R Missense 3/16 - 1
12-112888180-TA-CT c.196_197delinsCT p.Y66L Missense 3/16 - 1
12-112888180-TA-GC c.196_197delinsGC p.Y66A Missense 3/16 - 1
12-112888180-TA-GG c.196_197delinsGG p.Y66G Missense 3/16 - 2
12-112888180-TA-GT c.196_197delinsGT p.Y66V Missense 3/16 - 1
12-112888180-TAT-AAG c.196_198delinsAAG p.Y66K Missense 3/16 - 1
12-112888180-TAT-ATG c.196_198delinsATG p.Y66M Missense 3/16 - 1
12-112888180-TAT-CAA c.196_198delinsCAA p.Y66Q Missense 3/16 - 1
12-112888180-TAT-GAG c.196_198delinsGAG p.Y66E Missense 3/16 - 1
12-112888180-T-C c.196T>C p.Y66H Missense 3/16 - 1
12-112888180-T-G c.196T>G p.Y66D Missense 3/16 - 1
12-112888180-T-TAGAAAGAGGAGGAGG c.197_198insGAAAGAGGAGGAGGA p.Y66delins* Nonsense 3/16 - 1
12-112888181-A-C c.197A>C p.Y66S Missense 3/16 - 1
12-112888181-A-G c.197A>G p.Y66C Missense 3/16 - 1
12-112888181-A-T c.197A>T p.Y66F Missense 3/16 - 1
12-112888181-AT-GG c.197_198delinsGG p.Y66W Missense 3/16 - 1
12-112888183-G-A c.199G>A p.G67R Missense 3/16 - 2
12-112888183-G-C c.199G>C p.G67R Missense 3/16 - 2
12-112888183-GG-AA c.199_200delinsAA p.G67K Missense 3/16 - 1
12-112888183-GGA-AAC c.199_201delinsAAC p.G67N Missense 3/16 - 1
12-112888183-GGA-AGC c.199_201delinsAGC p.G67S Missense 3/16 - 1
12-112888183-GGA-ATG c.199_201delinsATG p.G67M Missense 3/16 - 1
12-112888183-GG-AC c.199_200delinsAC p.G67T Missense 3/16 - 1
12-112888183-GGA-CAT c.199_201delinsCAT p.G67H Missense 3/16 - 1
12-112888183-GG-AT c.199_200delinsAT p.G67I Missense 3/16 - 1
12-112888183-GGA-TAT c.199_201delinsTAT p.G67Y Missense 3/16 - 1
12-112888183-GGA-TGG c.199_201delinsTGG p.G67W Missense 3/16 - 1
12-112888183-GGA-TGT c.199_201delinsTGT p.G67C Missense 3/16 - 1
12-112888183-GGA-TTT c.199_201delinsTTT p.G67F Missense 3/16 - 1
12-112888183-GG-CA c.199_200delinsCA p.G67Q Missense 3/16 - 1
12-112888183-GG-CC c.199_200inv p.G67P Missense 3/16 - 1
12-112888183-GG-CT c.199_200delinsCT p.G67L Missense 3/16 - 1
12-112888183-G-T c.199G>T p.G67* Nonsense 3/16 - 1
12-112888184-G-A c.200G>A p.G67E Missense 3/16 - 2
12-112888184-GA-AC c.200_201delinsAC p.G67D Missense 3/16 - 1
12-112888184-G-C c.200G>C p.G67A Missense 3/16 - 4
12-112888184-G-T c.200G>T p.G67V Missense 3/16 - 1
12-112888186-G-A c.202G>A p.G68R Missense 3/16 - 2
12-112888186-G-C c.202G>C p.G68R Missense 3/16 - 1
12-112888186-GG-AA c.202_203delinsAA p.G68K Missense 3/16 - 1
12-112888186-GG-AC c.202_203delinsAC p.G68T Missense 3/16 - 1
12-112888186-GG-AT c.202_203delinsAT p.G68M Missense 3/16 - 1
12-112888186-GG-CA c.202_203delinsCA p.G68Q Missense 3/16 - 1
12-112888186-GG-CC c.202_203inv p.G68P Missense 3/16 - 1
12-112888186-GG-CT c.202_203delinsCT p.G68L Missense 3/16 - 1
12-112888186-GGG-AAC c.202_204delinsAAC p.G68N Missense 3/16 - 2
12-112888186-GGG-AGC c.202_204delinsAGC p.G68S Missense 3/16 - 1
12-112888186-GGG-ATC c.202_204delinsATC p.G68I Missense 3/16 - 1
12-112888186-GGG-CAT c.202_204delinsCAT p.G68H Missense 3/16 - 1
12-112888186-GGG-TAT c.202_204delinsTAT p.G68Y Missense 3/16 - 1
12-112888186-GGG-TGT c.202_204delinsTGT p.G68C Missense 3/16 - 1
12-112888186-GGG-TTT c.202_204delinsTTT p.G68F Missense 3/16 - 1
12-112888186-G-T c.202G>T p.G68W Missense 3/16 - 2
12-112888187-G-A c.203G>A p.G68E Missense 3/16 - 4
12-112888187-G-C c.203G>C p.G68A Missense 3/16 - 1
12-112888187-GG-AC c.203_204delinsAC p.G68D Missense 3/16 - 1
12-112888187-G-T c.203G>T p.G68V Missense 3/16 - 1
12-112888188-G-A c.204G>A p.G68= Synonymous 3/16 - 1
12-112888185-AG-A c.205del p.E69Rfs*20 Frameshift 3/16 - 1
12-112888189-G-A c.205G>A p.E69K Missense 3/16 - 123
12-112888189-GA-AC c.205_206delinsAC p.E69T Missense 3/16 - 1
12-112888189-GA-AG c.205_206delinsAG p.E69R Missense 3/16 - 1
12-112888189-GA-AT c.205_206delinsAT p.E69M Missense 3/16 - 1
12-112888189-GA-CC c.205_206delinsCC p.E69P Missense 3/16 - 1
12-112888189-GA-CT c.205_206delinsCT p.E69L Missense 3/16 - 1
12-112888189-GAG-AAC c.205_207delinsAAC p.E69N Missense 3/16 - 1
12-112888189-GAG-ATC c.205_207delinsATC p.E69I Missense 3/16 - 1
12-112888189-GAG-CAT c.205_207delinsCAT p.E69H Missense 3/16 - 1
12-112888189-GAG-TAT c.205_207delinsTAT p.E69Y Missense 3/16 - 1
12-112888189-GAG-TGT c.205_207delinsTGT p.E69C Missense 3/16 - 1
12-112888189-GAG-TTT c.205_207delinsTTT p.E69F Missense 3/16 - 2
12-112888189-GA-TC c.205_206inv p.E69S Missense 3/16 - 1
12-112888189-GA-TG c.205_206delinsTG p.E69W Missense 3/16 - 1
12-112888189-G-C c.205G>C p.E69Q Missense 3/16 - 24
12-112888190-A-C c.206A>C p.E69A Missense 3/16 - 2
12-112888190-A-G c.206A>G p.E69G Missense 3/16 - 8
12-112888190-A-T c.206A>T p.E69V Missense 3/16 - 14
12-112888191-G-C c.207G>C p.E69D Missense 3/16 - 5
12-112888191-G-T c.207G>T p.E69D Missense 3/16 - 8
12-112888192-AAA-CAT c.208_210delinsCAT p.K70H Missense 3/16 - 1
12-112888192-AAA-GAC c.208_210delinsGAC p.K70D Missense 3/16 - 1
12-112888192-AAA-TAT c.208_210delinsTAT p.K70Y Missense 3/16 - 1
12-112888192-AAA-TGG c.208_210delinsTGG p.K70W Missense 3/16 - 1
12-112888192-AAA-TGT c.208_210delinsTGT p.K70C Missense 3/16 - 1
12-112888192-AAA-TTT c.208_210inv p.K70F Missense 3/16 - 1
12-112888192-AA-CC c.208_209delinsCC p.K70P Missense 3/16 - 1
12-112888192-AA-CT c.208_209delinsCT p.K70L Missense 3/16 - 1
12-112888192-AA-GC c.208_209delinsGC p.K70A Missense 3/16 - 2
12-112888192-AA-GG c.208_209delinsGG p.K70G Missense 3/16 - 1
12-112888192-AA-GT c.208_209delinsGT p.K70V Missense 3/16 - 1
12-112888192-A-C c.208A>C p.K70Q Missense 3/16 - 1
12-112888192-A-G c.208A>G p.K70E Missense 3/16 - 2
12-112888192-A-T c.208A>T p.K70* Nonsense 3/16 - 2
12-112888193-AA-GC c.209_210delinsGC p.K70S Missense 3/16 - 1
12-112888193-AA-TG c.209_210delinsTG p.K70M Missense 3/16 - 1
12-112888193-A-C c.209A>C p.K70T Missense 3/16 - 1
12-112888193-A-G c.209A>G p.K70R Missense 3/16 - 12
12-112888193-A-T c.209A>T p.K70I Missense 3/16 - 1
12-112888194-A-C c.210A>C p.K70N Missense 3/16 - 1
12-112888194-A-G c.210A>G p.K70= Synonymous 3/16 - 1
12-112888194-A-T c.210A>T p.K70N Missense 3/16 - 1
12-112888195-T-A c.211T>A p.F71I Missense 3/16 - 9
12-112888195-T-C c.211T>C p.F71L Missense 3/16 - 58
12-112888195-T-G c.211T>G p.F71V Missense 3/16 - 8
12-112888195-TT-AA c.211_212inv p.F71N Missense 3/16 - 1
12-112888195-TT-AC c.211_212delinsAC p.F71T Missense 3/16 - 1
12-112888195-TT-CA c.211_212delinsCA p.F71H Missense 3/16 - 1
12-112888195-TT-CC c.211_212delinsCC p.F71P Missense 3/16 - 1
12-112888195-TT-CG c.211_212delinsCG p.F71R Missense 3/16 - 1
12-112888195-TT-GA c.211_212delinsGA p.F71D Missense 3/16 - 1
12-112888195-TT-GC c.211_212delinsGC p.F71A Missense 3/16 - 3
12-112888195-TT-GG c.211_212delinsGG p.F71G Missense 3/16 - 1
12-112888195-TTT-AAG c.211_213delinsAAG p.F71K Missense 3/16 - 8
12-112888195-TTT-ATG c.211_213delinsATG p.F71M Missense 3/16 - 1
12-112888195-TTT-CAA c.211_213delinsCAA p.F71Q Missense 3/16 - 1
12-112888195-TTT-GAG c.211_213delinsGAG p.F71E Missense 3/16 - 1
12-112888196-T-A c.212T>A p.F71Y Missense 3/16 - 1
12-112888196-T-C c.212T>C p.F71S Missense 3/16 - 2
12-112888196-T-G c.212T>G p.F71C Missense 3/16 - 3
12-112888196-TT-GG c.212_213delinsGG p.F71W Missense 3/16 - 1
12-112888194-A-AT c.213dup p.A72Cfs*5 Frameshift 3/16 - 1
12-112888194-AT-A c.213del p.F71Lfs*18 Frameshift 3/16 - 1
12-112888197-T-A c.213T>A p.F71L Missense 3/16 - 60
12-112888197-T-G c.213T>G p.F71L Missense 3/16 - 39
12-112888198-G-A c.214G>A p.A72T Missense 3/16 - 114
12-112888198-G-C c.214G>C p.A72P Missense 3/16 - 15
12-112888198-GC-AA c.214_215delinsAA p.A72N Missense 3/16 - 1
12-112888198-GC-AT c.214_215delinsAT p.A72I Missense 3/16 - 1
12-112888198-GC-CA c.214_215delinsCA p.A72H Missense 3/16 - 1
12-112888198-GCC-AAG c.214_216delinsAAG p.A72K Missense 3/16 - 1
12-112888198-GCC-ATG c.214_216delinsATG p.A72M Missense 3/16 - 1
12-112888198-GCC-CAA c.214_216delinsCAA p.A72Q Missense 3/16 - 1
12-112888198-GC-CG c.214_215delinsCG p.A72R Missense 3/16 - 1
12-112888198-GC-CT c.214_215delinsCT p.A72L Missense 3/16 - 1
12-112888198-GCC-TGG c.214_216delinsTGG p.A72W Missense 3/16 - 1
12-112888198-GC-TA c.214_215delinsTA p.A72Y Missense 3/16 - 1
12-112888198-GC-TG c.214_215delinsTG p.A72C Missense 3/16 - 2
12-112888198-GC-TT c.214_215delinsTT p.A72F Missense 3/16 - 1
12-112888198-G-T c.214G>T p.A72S Missense 3/16 - 47
12-112888199-C-A c.215C>A p.A72D Missense 3/16 - 57
12-112888199-CC-AG c.215_216delinsAG p.A72E Missense 3/16 - 3
12-112888199-C-G c.215C>G p.A72G Missense 3/16 - 38
12-112888199-C-T c.215C>T p.A72V Missense 3/16 - 114
12-112888200-C-A c.216C>A p.A72= Synonymous 3/16 - 1
12-112888200-C-G c.216C>G p.A72= Synonymous 3/16 - 1
12-112888200-C-T c.216C>T p.A72= Synonymous 3/16 - 2
12-112888201-A-C c.217A>C p.T73P Missense 3/16 - 4
12-112888201-AC-CA c.217_218delinsCA p.T73H Missense 3/16 - 1
12-112888201-AC-CT c.217_218delinsCT p.T73L Missense 3/16 - 5
12-112888201-AC-GA c.217_218delinsGA p.T73D Missense 3/16 - 1
12-112888201-AC-GG c.217_218delinsGG p.T73G Missense 3/16 - 1
12-112888201-AC-GT c.217_218inv p.T73V Missense 3/16 - 1
12-112888201-AC-TA c.217_218delinsTA p.T73Y Missense 3/16 - 1
12-112888201-ACT-CAA c.217_219delinsCAA p.T73Q Missense 3/16 - 1
12-112888201-AC-TG c.217_218delinsTG p.T73C Missense 3/16 - 1
12-112888201-ACT-GAG c.217_219delinsGAG p.T73E Missense 3/16 - 1
12-112888201-AC-TT c.217_218delinsTT p.T73F Missense 3/16 - 2
12-112888201-ACT-TGG c.217_219delinsTGG p.T73W Missense 3/16 - 1
12-112888201-A-G c.217A>G p.T73A Missense 3/16 - 5
12-112888201-A-T c.217A>T p.T73S Missense 3/16 - 4
12-112888202-C-A c.218C>A p.T73N Missense 3/16 - 2
12-112888202-C-G c.218C>G p.T73S Missense 3/16 - 3
12-112888202-C-T c.218C>T p.T73I Missense 3/16 - 106
12-112888202-CT-AG c.218_219inv p.T73K Missense 3/16 - 1
12-112888202-CT-GG c.218_219delinsGG p.T73R Missense 3/16 - 1
12-112888202-CT-TG c.218_219delinsTG p.T73M Missense 3/16 - 1
12-112888203-T-C c.219T>C p.T73= Synonymous 3/16 - 1
12-112888204-T-A c.220T>A p.L74M Missense 3/16 - 5
12-112888204-T-G c.220T>G p.L74V Missense 3/16 - 1
12-112888204-TT-AA c.220_221inv p.L74K Missense 3/16 - 1
12-112888204-TT-AC c.220_221delinsAC p.L74T Missense 3/16 - 1
12-112888204-TT-AG c.220_221delinsAG p.L74R Missense 3/16 - 1
12-112888204-TT-CA c.220_221delinsCA p.L74Q Missense 3/16 - 1
12-112888204-TT-CC c.220_221delinsCC p.L74P Missense 3/16 - 1
12-112888204-TT-GA c.220_221delinsGA p.L74E Missense 3/16 - 2
12-112888204-TTG-AAC c.220_222delinsAAC p.L74N Missense 3/16 - 1
12-112888204-TTG-ATC c.220_222delinsATC p.L74I Missense 3/16 - 1
12-112888204-TT-GC c.220_221delinsGC p.L74A Missense 3/16 - 3
12-112888204-TTG-CAT c.220_222delinsCAT p.L74H Missense 3/16 - 1
12-112888204-TT-GG c.220_221delinsGG p.L74G Missense 3/16 - 1
12-112888204-TTG-GAC c.220_222delinsGAC p.L74D Missense 3/16 - 1
12-112888202-C-CT c.221dup p.L74Ffs*3 Frameshift 3/16 - 1
12-112888202-CT-C c.221del p.L74Wfs*15 Frameshift 3/16 - 1
12-112888205-T-C c.221T>C p.L74S Missense 3/16 - 1
12-112888205-T-G c.221T>G p.L74W Missense 3/16 - 6
12-112888205-TG-AT c.221_222delinsAT p.L74Y Missense 3/16 - 1
12-112888205-TG-GT c.221_222delinsGT p.L74C Missense 3/16 - 1
12-112888206-G-C c.222G>C p.L74F Missense 3/16 - 3
12-112888206-G-T c.222G>T p.L74F Missense 3/16 - 3
12-112888205-TG-T c.223del p.A75Lfs*14 Frameshift 3/16 - 1
12-112888207-G-A c.223G>A p.A75T Missense 3/16 - 1
12-112888207-G-C c.223G>C p.A75P Missense 3/16 - 2
12-112888207-GC-AA c.223_224delinsAA p.A75N Missense 3/16 - 1
12-112888207-GC-AT c.223_224delinsAT p.A75I Missense 3/16 - 3
12-112888207-GC-CA c.223_224delinsCA p.A75H Missense 3/16 - 4
12-112888207-GC-CG c.223_224delinsCG p.A75R Missense 3/16 - 1
12-112888207-GC-CT c.223_224delinsCT p.A75L Missense 3/16 - 1
12-112888207-GC-TA c.223_224delinsTA p.A75Y Missense 3/16 - 1
12-112888207-GCT-AAG c.223_225delinsAAG p.A75K Missense 3/16 - 1
12-112888207-GCT-ATG c.223_225delinsATG p.A75M Missense 3/16 - 1
12-112888207-GCT-CAA c.223_225delinsCAA p.A75Q Missense 3/16 - 1
12-112888207-GC-TG c.223_224delinsTG p.A75C Missense 3/16 - 5
12-112888207-GC-TT c.223_224delinsTT p.A75F Missense 3/16 - 1
12-112888207-GCT-TAA c.223_225delinsTAA p.A75* Nonsense 3/16 - 1
12-112888207-GCT-TGG c.223_225delinsTGG p.A75W Missense 3/16 - 2
12-112888207-G-T c.223G>T p.A75S Missense 3/16 - 4
12-112888208-C-A c.224C>A p.A75D Missense 3/16 - 1
12-112888208-C-G c.224C>G p.A75G Missense 3/16 - 6
12-112888208-C-T c.224C>T p.A75V Missense 3/16 - 3
12-112888208-CT-AG c.224_225inv p.A75E Missense 3/16 - 4
12-112888208-C-CT c.225dup p.E76* Nonsense 3/16 - 1
12-112888209-T-A c.225T>A p.A75= Synonymous 3/16 - 1
12-112888209-T-C c.225T>C p.A75= Synonymous 3/16 - 1
12-112888209-T-G c.225T>G p.A75= Synonymous 3/16 - 1
12-112888210-G-A c.226G>A p.E76K Missense 3/16 - 287
12-112888210-GA-AC c.226_227delinsAC p.E76T Missense 3/16 - 1
12-112888210-GA-AG c.226_227delinsAG p.E76R Missense 3/16 - 1
12-112888210-GA-AT c.226_227delinsAT p.E76M Missense 3/16 - 4
12-112888210-GA-CC c.226_227delinsCC p.E76P Missense 3/16 - 1
12-112888210-GA-CT c.226_227delinsCT p.E76L Missense 3/16 - 1
12-112888210-GAG-AAC c.226_228delinsAAC p.E76N Missense 3/16 - 1
12-112888210-GAG-ATC c.226_228delinsATC p.E76I Missense 3/16 - 1
12-112888210-GAG-CAT c.226_228delinsCAT p.E76H Missense 3/16 - 1
12-112888210-GAG-TAT c.226_228delinsTAT p.E76Y Missense 3/16 - 1
12-112888210-GAG-TGT c.226_228delinsTGT p.E76C Missense 3/16 - 1
12-112888210-GAG-TTT c.226_228delinsTTT p.E76F Missense 3/16 - 1
12-112888210-GA-TC c.226_227inv p.E76S Missense 3/16 - 1
12-112888210-GA-TG c.226_227delinsTG p.E76W Missense 3/16 - 1
12-112888210-G-C c.226G>C p.E76Q Missense 3/16 - 67
12-112888210-G-T c.226G>T p.E76* Nonsense 3/16 - 1
12-112888211-A-C c.227A>C p.E76A Missense 3/16 - 90
12-112888211-A-G c.227A>G p.E76G Missense 3/16 - 80
12-112888211-A-T c.227A>T p.E76V Missense 3/16 - 56
12-112888212-G-C c.228G>C p.E76D Missense 3/16 - 36
12-112888212-G-T c.228G>T p.E76D Missense 3/16 - 33
12-112888213-T-A c.229T>A p.L77M Missense 3/16 - 1
12-112888213-T-G c.229T>G p.L77V Missense 3/16 - 7
12-112888213-TT-AA c.229_230inv p.L77K Missense 3/16 - 1
12-112888213-TT-AC c.229_230delinsAC p.L77T Missense 3/16 - 1
12-112888213-TT-AG c.229_230delinsAG p.L77R Missense 3/16 - 2
12-112888213-TT-CA c.229_230delinsCA p.L77Q Missense 3/16 - 1
12-112888213-TT-CC c.229_230delinsCC p.L77P Missense 3/16 - 2
12-112888213-TT-GA c.229_230delinsGA p.L77E Missense 3/16 - 1
12-112888213-TTG-AAC c.229_231delinsAAC p.L77N Missense 3/16 - 1
12-112888213-TTG-ATC c.229_231delinsATC p.L77I Missense 3/16 - 1
12-112888213-TT-GC c.229_230delinsGC p.L77A Missense 3/16 - 2
12-112888213-TTG-CAT c.229_231delinsCAT p.L77H Missense 3/16 - 1
12-112888213-TT-GG c.229_230delinsGG p.L77G Missense 3/16 - 1
12-112888213-TTG-GAC c.229_231delinsGAC p.L77D Missense 3/16 - 1
12-112888212-G-GT c.230dup p.L77Ffs*21 Frameshift 3/16 - 1
12-112888214-T-C c.230T>C p.L77S Missense 3/16 - 1
12-112888214-T-G c.230T>G p.L77W Missense 3/16 - 1
12-112888214-TG-AT c.230_231delinsAT p.L77Y Missense 3/16 - 1
12-112888214-TG-GT c.230_231delinsGT p.L77C Missense 3/16 - 1
12-112888215-G-C c.231G>C p.L77F Missense 3/16 - 1
12-112888215-G-T c.231G>T p.L77F Missense 3/16 - 1
12-112888214-TG-T c.232del p.V78Sfs*11 Frameshift 3/16 - 1
12-112888216-G-A c.232G>A p.V78I Missense 3/16 - 4
12-112888216-G-C c.232G>C p.V78L Missense 3/16 - 1
12-112888216-G-T c.232G>T p.V78F Missense 3/16 - 2
12-112888216-GT-AA c.232_233delinsAA p.V78N Missense 3/16 - 1
12-112888216-GT-AC c.232_233inv p.V78T Missense 3/16 - 1
12-112888216-GT-AG c.232_233delinsAG p.V78S Missense 3/16 - 1
12-112888216-GT-CA c.232_233delinsCA p.V78H Missense 3/16 - 1
12-112888216-GTC-AAG c.232_234delinsAAG p.V78K Missense 3/16 - 1
12-112888216-GTC-ATG c.232_234delinsATG p.V78M Missense 3/16 - 3
12-112888216-GT-CC c.232_233delinsCC p.V78P Missense 3/16 - 1
12-112888216-GTC-CAA c.232_234delinsCAA p.V78Q Missense 3/16 - 1
12-112888216-GT-CG c.232_233delinsCG p.V78R Missense 3/16 - 1
12-112888216-GTC-TGG c.232_234delinsTGG p.V78W Missense 3/16 - 1
12-112888216-GT-TA c.232_233delinsTA p.V78Y Missense 3/16 - 1
12-112888216-GT-TG c.232_233delinsTG p.V78C Missense 3/16 - 1
12-112888217-T-A c.233T>A p.V78D Missense 3/16 - 2
12-112888217-T-C c.233T>C p.V78A Missense 3/16 - 3
12-112888217-TC-AG c.233_234delinsAG p.V78E Missense 3/16 - 1
12-112888217-T-G c.233T>G p.V78G Missense 3/16 - 1
12-112888219-C-A c.235C>A p.Q79K Missense 3/16 - 8
12-112888219-CA-AC c.235_236delinsAC p.Q79T Missense 3/16 - 1
12-112888219-CA-AT c.235_236delinsAT p.Q79M Missense 3/16 - 1
12-112888219-CAG-AAC c.235_237delinsAAC p.Q79N Missense 3/16 - 1
12-112888219-CAG-ATC c.235_237delinsATC p.Q79I Missense 3/16 - 1
12-112888219-CA-GC c.235_236delinsGC p.Q79A Missense 3/16 - 1
12-112888219-CA-GG c.235_236delinsGG p.Q79G Missense 3/16 - 1
12-112888219-CAG-GAC c.235_237delinsGAC p.Q79D Missense 3/16 - 1
12-112888219-CA-GT c.235_236delinsGT p.Q79V Missense 3/16 - 1
12-112888219-CAG-TAT c.235_237delinsTAT p.Q79Y Missense 3/16 - 1
12-112888219-CAG-TGT c.235_237delinsTGT p.Q79C Missense 3/16 - 1
12-112888219-CAG-TTT c.235_237delinsTTT p.Q79F Missense 3/16 - 1
12-112888219-CA-TC c.235_236delinsTC p.Q79S Missense 3/16 - 1
12-112888219-CA-TG c.235_236inv p.Q79W Missense 3/16 - 1
12-112888219-C-G c.235C>G p.Q79E Missense 3/16 - 1
12-112888219-C-T c.235C>T p.Q79* Nonsense 3/16 - 1
12-112888220-A-C c.236A>C p.Q79P Missense 3/16 - 9
12-112888220-A-G c.236A>G p.Q79R Missense 3/16 - 79
12-112888220-A-T c.236A>T p.Q79L Missense 3/16 - 2
12-112888221-AG-A c.237del p.Q79Hfs*10 Frameshift 3/16 - 1
12-112888221-G-A c.237G>A p.Q79= Synonymous 3/16 - 1
12-112888221-G-C c.237G>C p.Q79H Missense 3/16 - 2
12-112888221-G-T c.237G>T p.Q79H Missense 3/16 - 3
12-112888222-T-A c.238T>A p.Y80N Missense 3/16 - 1
12-112888222-TA-AC c.238_239delinsAC p.Y80T Missense 3/16 - 1
12-112888222-TA-AT c.238_239delinsAT p.Y80I Missense 3/16 - 1
12-112888222-TA-CC c.238_239delinsCC p.Y80P Missense 3/16 - 1
12-112888222-TA-CG c.238_239delinsCG p.Y80R Missense 3/16 - 1
12-112888222-TA-CT c.238_239delinsCT p.Y80L Missense 3/16 - 1
12-112888222-TA-GC c.238_239delinsGC p.Y80A Missense 3/16 - 1
12-112888222-TA-GG c.238_239delinsGG p.Y80G Missense 3/16 - 1
12-112888222-TA-GT c.238_239delinsGT p.Y80V Missense 3/16 - 1
12-112888222-TAT-AAG c.238_240delinsAAG p.Y80K Missense 3/16 - 1
12-112888222-TAT-ATG c.238_240delinsATG p.Y80M Missense 3/16 - 1
12-112888222-TAT-CAA c.238_240delinsCAA p.Y80Q Missense 3/16 - 1
12-112888222-TAT-GAG c.238_240delinsGAG p.Y80E Missense 3/16 - 1
12-112888222-T-C c.238T>C p.Y80H Missense 3/16 - 1
12-112888222-T-G c.238T>G p.Y80D Missense 3/16 - 1
12-112888223-A-C c.239A>C p.Y80S Missense 3/16 - 1
12-112888223-A-G c.239A>G p.Y80C Missense 3/16 - 2
12-112888223-A-T c.239A>T p.Y80F Missense 3/16 - 1
12-112888223-AT-GG c.239_240delinsGG p.Y80W Missense 3/16 - 1
12-112888224-T-A c.240T>A p.Y80* Nonsense 3/16 - 1
12-112888224-T-G c.240T>G p.Y80* Nonsense 3/16 - 1
12-112888225-T-A c.241T>A p.Y81N Missense 3/16 - 1
12-112888225-TA-AC c.241_242delinsAC p.Y81T Missense 3/16 - 1
12-112888225-TA-AT c.241_242delinsAT p.Y81I Missense 3/16 - 1
12-112888225-TAC-AAG c.241_243delinsAAG p.Y81K Missense 3/16 - 1
12-112888225-TAC-ATG c.241_243delinsATG p.Y81M Missense 3/16 - 1
12-112888225-TA-CC c.241_242delinsCC p.Y81P Missense 3/16 - 1
12-112888225-TAC-CAA c.241_243delinsCAA p.Y81Q Missense 3/16 - 1
12-112888225-TA-CG c.241_242delinsCG p.Y81R Missense 3/16 - 1
12-112888225-TAC-GAG c.241_243delinsGAG p.Y81E Missense 3/16 - 1
12-112888225-TA-CT c.241_242delinsCT p.Y81L Missense 3/16 - 1
12-112888225-TA-GC c.241_242delinsGC p.Y81A Missense 3/16 - 1
12-112888225-TA-GG c.241_242delinsGG p.Y81G Missense 3/16 - 1
12-112888225-TA-GT c.241_242delinsGT p.Y81V Missense 3/16 - 1
12-112888225-T-C c.241T>C p.Y81H Missense 3/16 - 1
12-112888225-T-G c.241T>G p.Y81D Missense 3/16 - 1
12-112888226-A-C c.242A>C p.Y81S Missense 3/16 - 1
12-112888226-AC-GG c.242_243delinsGG p.Y81W Missense 3/16 - 1
12-112888226-A-G c.242A>G p.Y81C Missense 3/16 - 1
12-112888226-A-T c.242A>T p.Y81F Missense 3/16 - 2
12-112888225-TAC-T c.243_244del p.M82Gfs*15 Frameshift 3/16 - 1
12-112888228-A-C c.244A>C p.M82L Missense 3/16 - 3
12-112888228-A-G c.244A>G p.M82V Missense 3/16 - 14
12-112888228-A-T c.244A>T p.M82L Missense 3/16 - 3
12-112888228-AT-CA c.244_245delinsCA p.M82Q Missense 3/16 - 1
12-112888228-AT-CC c.244_245delinsCC p.M82P Missense 3/16 - 1
12-112888228-AT-GA c.244_245delinsGA p.M82E Missense 3/16 - 1
12-112888228-AT-GC c.244_245delinsGC p.M82A Missense 3/16 - 2
12-112888228-ATG-CAT c.244_246inv p.M82H Missense 3/16 - 1
12-112888228-AT-GG c.244_245delinsGG p.M82G Missense 3/16 - 1
12-112888228-ATG-GAC c.244_246delinsGAC p.M82D Missense 3/16 - 1
12-112888228-ATG-TAT c.244_246delinsTAT p.M82Y Missense 3/16 - 1
12-112888228-ATG-TGT c.244_246delinsTGT p.M82C Missense 3/16 - 1
12-112888228-ATG-TTT c.244_246delinsTTT p.M82F Missense 3/16 - 1
12-112888228-AT-TG c.244_245delinsTG p.M82W Missense 3/16 - 1
12-112888229-T-A c.245T>A p.M82K Missense 3/16 - 2
12-112888229-T-C c.245T>C p.M82T Missense 3/16 - 4
12-112888229-T-G c.245T>G p.M82R Missense 3/16 - 2
12-112888229-TG-AC c.245_246delinsAC p.M82N Missense 3/16 - 1
12-112888229-TG-GC c.245_246delinsGC p.M82S Missense 3/16 - 1
12-112888230-G-A c.246G>A p.M82I Missense 3/16 - 1
12-112888230-G-C c.246G>C p.M82I Missense 3/16 - 1
12-112888230-G-T c.246G>T p.M82I Missense 3/16 - 1
12-112888231-G-A c.247G>A p.E83K Missense 3/16 - 2
12-112888231-GAA-AAC c.247_249delinsAAC p.E83N Missense 3/16 - 1
12-112888231-GAA-ATG c.247_249delinsATG p.E83M Missense 3/16 - 1
12-112888231-GA-AC c.247_248delinsAC p.E83T Missense 3/16 - 1
12-112888231-GAA-CAT c.247_249delinsCAT p.E83H Missense 3/16 - 1
12-112888231-GA-AG c.247_248delinsAG p.E83R Missense 3/16 - 1
12-112888231-GA-AT c.247_248delinsAT p.E83I Missense 3/16 - 1
12-112888231-GAA-TAT c.247_249delinsTAT p.E83Y Missense 3/16 - 1
12-112888231-GAA-TGG c.247_249delinsTGG p.E83W Missense 3/16 - 1
12-112888231-GAA-TGT c.247_249delinsTGT p.E83C Missense 3/16 - 1
12-112888231-GAA-TTT c.247_249delinsTTT p.E83F Missense 3/16 - 1
12-112888231-GA-CC c.247_248delinsCC p.E83P Missense 3/16 - 1
12-112888231-GA-CT c.247_248delinsCT p.E83L Missense 3/16 - 1
12-112888231-GA-TC c.247_248inv p.E83S Missense 3/16 - 1
12-112888231-G-C c.247G>C p.E83Q Missense 3/16 - 1
12-112888231-G-T c.247G>T p.E83* Nonsense 3/16 - 1
12-112888232-A-C c.248A>C p.E83A Missense 3/16 - 3
12-112888232-A-G c.248A>G p.E83G Missense 3/16 - 2
12-112888232-A-T c.248A>T p.E83V Missense 3/16 - 1
12-112888233-A-C c.249A>C p.E83D Missense 3/16 - 1
12-112888233-A-G c.249A>G p.E83= Synonymous 3/16 - 3
12-112888233-A-T c.249A>T p.E83D Missense 3/16 - 1
12-112888234-C-A c.250C>A p.H84N Missense 3/16 - 1
12-112888234-CA-AC c.250_251delinsAC p.H84T Missense 3/16 - 1
12-112888234-CA-AG c.250_251delinsAG p.H84S Missense 3/16 - 1
12-112888234-CA-AT c.250_251delinsAT p.H84I Missense 3/16 - 1
12-112888234-CA-GC c.250_251delinsGC p.H84A Missense 3/16 - 2
12-112888234-CA-GG c.250_251delinsGG p.H84G Missense 3/16 - 1
12-112888234-CA-GT c.250_251delinsGT p.H84V Missense 3/16 - 1
12-112888234-CAT-AAG c.250_252delinsAAG p.H84K Missense 3/16 - 1
12-112888234-CAT-ATG c.250_252inv p.H84M Missense 3/16 - 1
12-112888234-CA-TG c.250_251inv p.H84C Missense 3/16 - 1
12-112888234-CAT-GAG c.250_252delinsGAG p.H84E Missense 3/16 - 1
12-112888234-CA-TT c.250_251delinsTT p.H84F Missense 3/16 - 1
12-112888234-CAT-TGG c.250_252delinsTGG p.H84W Missense 3/16 - 1
12-112888234-C-G c.250C>G p.H84D Missense 3/16 - 1
12-112888234-C-T c.250C>T p.H84Y Missense 3/16 - 2
12-112888235-A-C c.251A>C p.H84P Missense 3/16 - 1
12-112888235-A-G c.251A>G p.H84R Missense 3/16 - 1
12-112888235-A-T c.251A>T p.H84L Missense 3/16 - 1
12-112888236-T-A c.252T>A p.H84Q Missense 3/16 - 1
12-112888236-T-G c.252T>G p.H84Q Missense 3/16 - 1
12-112888237-C-T c.253C>T p.H85Y Missense 3/16 - 3
12-112888237-C-CA c.254dup p.H85Qfs*13 Frameshift 3/16 - 1
12-112888238-A-C c.254A>C p.H85P Missense 3/16 - 1
12-112888239-C-A c.255C>A p.H85Q Missense 3/16 - 1
12-112888239-C-G c.255C>G p.H85Q Missense 3/16 - 1
12-112888239-C-T c.255C>T p.H85= Synonymous 3/16 - 5
12-112888240-G-A c.256G>A p.G86R Missense 3/16 - 1
12-112888240-G-C c.256G>C p.G86R Missense 3/16 - 1
12-112888241-G-T c.257G>T p.G86V Missense 3/16 - 1
12-112888239-CG-C c.258del p.Q87Nfs*2 Frameshift 3/16 - 1
12-112888242-G-A c.258G>A p.G86= Synonymous 3/16 - 2
12-112888242-G-C c.258G>C p.G86= Synonymous 3/16 - 2
12-112888242-G-T c.258G>T p.G86= Synonymous 3/16 - 3
12-112888243-CAA-GAC c.259_261delinsGAC p.Q87D Missense 3/16 - 1
12-112888243-C-T c.259C>T p.Q87* Nonsense 3/16 - 1
12-112888244-A-C c.260A>C p.Q87P Missense 3/16 - 1
12-112888244-A-G c.260A>G p.Q87R Missense 3/16 - 2
12-112888243-C-CA c.261dup p.L88Ifs*10 Frameshift 3/16 - 1
12-112888246-T-A c.262T>A p.L88I Missense 3/16 - 1
12-112888246-TT-CC c.262_263delinsCC p.L88P Missense 3/16 - 1
12-112888246-TT-GC c.262_263delinsGC p.L88A Missense 3/16 - 2
12-112888247-TA-GT c.263_264delinsGT p.L88C Missense 3/16 - 1
12-112888247-T-C c.263T>C p.L88S Missense 3/16 - 1
12-112888247-T-G c.263T>G p.L88* Nonsense 3/16 - 1
12-112888249-AA-GC c.265_266delinsGC p.K89A Missense 3/16 - 2
12-112888247-TA-T c.267del p.E90Rfs*13 Frameshift 3/16 - 1
12-112888247-T-TA c.267dup p.E90Rfs*8 Frameshift 3/16 - 1
12-112888251-A-C c.267A>C p.K89N Missense 3/16 - 1
12-112888251-A-T c.267A>T p.K89N Missense 3/16 - 1
12-112888252-G-A c.268G>A p.E90K Missense 3/16 - 1
12-112888252-GAG-ATC c.268_270delinsATC p.E90I Missense 3/16 - 1
12-112888252-G-C c.268G>C p.E90Q Missense 3/16 - 1
12-112888252-G-T c.268G>T p.E90* Nonsense 3/16 - 1
12-112888253-A-G c.269A>G p.E90G Missense 3/16 - 1
12-112888254-G-C c.270G>C p.E90D Missense 3/16 - 1
12-112888256-A-G c.272A>G p.K91R Missense 3/16 - 2
12-112888257-G-C c.273G>C p.K91N Missense 3/16 - 2
12-112888257-G-T c.273G>T p.K91N Missense 3/16 - 3
12-112888258-A-C c.274A>C p.N92H Missense 3/16 - 1
12-112888258-A-G c.274A>G p.N92D Missense 3/16 - 2
12-112888258-A-T c.274A>T p.N92Y Missense 3/16 - 1
12-112888259-A-C c.275A>C p.N92T Missense 3/16 - 1
12-112888259-A-G c.275A>G p.N92S Missense 3/16 - 2
12-112888260-T-C c.276T>C p.N92= Synonymous 3/16 - 1
12-112888261-G-C c.277G>C p.G93R Missense 3/16 - 1
12-112888262-G-A c.278G>A p.G93E Missense 3/16 - 1
12-112888262-GA-AC c.278_279delinsAC p.G93D Missense 3/16 - 2
12-112888262-G-C c.278G>C p.G93A Missense 3/16 - 14
12-112888264-G-A c.280G>A p.D94N Missense 3/16 - 12
12-112888264-G-C c.280G>C p.D94H Missense 3/16 - 1
12-112888265-A-C c.281A>C p.D94A Missense 3/16 - 1
12-112888265-A-T c.281A>T p.D94V Missense 3/16 - 1
12-112888266-T-A c.282T>A p.D94E Missense 3/16 - 4
12-112888266-T-G c.282T>G p.D94E Missense 3/16 - 4
12-112888267-GTC-ATG c.283_285delinsATG p.V95M Missense 3/16 - 1
12-112888267-GT-CC c.283_284delinsCC p.V95P Missense 3/16 - 1
12-112888268-T-C c.284T>C p.V95A Missense 3/16 - 1
12-112888269-C-A c.285C>A p.V95= Synonymous 3/16 - 1
12-112888269-C-G c.285C>G p.V95= Synonymous 3/16 - 1
12-112888269-C-T c.285C>T p.V95= Synonymous 3/16 - 1
12-112888270-A-G c.286A>G p.I96V Missense 3/16 - 1
12-112888270-AT-A c.288del p.I96Mfs*7 Frameshift 3/16 - 1
12-112888272-T-G c.288T>G p.I96M Missense 3/16 - 1
12-112888273-G-A c.289G>A p.E97K Missense 3/16 - 1
12-112888273-G-C c.289G>C p.E97Q Missense 3/16 - 3
12-112888274-A-C c.290A>C p.E97A Missense 3/16 - 4
12-112888276-C-A c.292C>A p.L98I Missense 3/16 - 1
12-112888276-C-G c.292C>G p.L98V Missense 3/16 - 1
12-112888276-C-T c.292C>T p.L98F Missense 3/16 - 10
12-112888276-CT-GC c.292_293delinsGC p.L98A Missense 3/16 - 1
12-112888277-T-A c.293T>A p.L98H Missense 3/16 - 1
12-112888279-AAA-GAC c.295_297delinsGAC p.K99D Missense 3/16 - 2
12-112888279-A-T c.295A>T p.K99* Nonsense 3/16 - 2
12-112888280-A-T c.296A>T p.K99I Missense 3/16 - 2
12-112888278-T-TA c.297dup p.Y100Ifs*11 Frameshift 3/16 - 1
12-112888281-A-T c.297A>T p.K99N Missense 3/16 - 1
12-112888282-T-C c.298T>C p.Y100H Missense 3/16 - 1
12-112888283-A-T c.299A>T p.Y100F Missense 3/16 - 1
12-112888284-T-A c.300T>A p.Y100* Nonsense 3/16 - 1
12-112888284-T-G c.300T>G p.Y100* Nonsense 3/16 - 1
12-112888285-CCT-AAG c.301_303delinsAAG p.P101K Missense 3/16 - 1
12-112888285-C-G c.301C>G p.P101A Missense 3/16 - 1
12-112888285-C-T c.301C>T p.P101S Missense 3/16 - 4
12-112888286-C-A c.302C>A p.P101H Missense 3/16 - 2
12-112888286-C-T c.302C>T p.P101L Missense 3/16 - 2
12-112888288-C-A c.304C>A p.L102M Missense 3/16 - 1
12-112888288-CT-GC c.304_305delinsGC p.L102A Missense 3/16 - 1
12-112888288-CTG-TTT c.304_306delinsTTT p.L102F Missense 3/16 - 1
12-112888288-C-T c.304C>T p.L102= Synonymous 3/16 - 1
12-112888290-G-A c.306G>A p.L102= Synonymous 3/16 - 3
12-112888290-G-C c.306G>C p.L102= Synonymous 3/16 - 1
12-112888290-G-T c.306G>T p.L102= Synonymous 3/16 - 1
12-112888291-A-G c.307A>G p.N103D Missense 3/16 - 1
12-112888293-C-A c.309C>A p.N103K Missense 3/16 - 3
12-112888293-C-G c.309C>G p.N103K Missense 3/16 - 3
12-112888293-C-T c.309C>T p.N103= Synonymous 3/16 - 1
12-112888294-T-A c.310T>A p.C104S Missense 3/16 - 1
12-112888294-T-C c.310T>C p.C104R Missense 3/16 - 3
12-112888294-TG-GC c.310_311delinsGC p.C104A Missense 3/16 - 1
12-112888295-G-C c.311G>C p.C104S Missense 3/16 - 1
12-112888295-G-A c.311G>A p.C104Y Missense 3/16 - 1
12-112888297-G-T c.313G>T p.A105S Missense 3/16 - 1
12-112888298-C-G c.314C>G p.A105G Missense 3/16 - 2
12-112888298-C-T c.314C>T p.A105V Missense 3/16 - 1
12-112888300-G-T c.316G>T p.D106Y Missense 3/16 - 3
12-112888301-A-C c.317A>C p.D106A Missense 3/16 - 35
12-112888301-A-G c.317A>G p.D106G Missense 3/16 - 2
12-112888301-A-T c.317A>T p.D106V Missense 3/16 - 1
12-112888302-T-A c.318T>A p.D106E Missense 3/16 - 1
12-112888302-T-G c.318T>G p.D106E Missense 3/16 - 1
12-112888303-C-A c.319C>A p.P107T Missense 3/16 - 1
12-112888303-CC-TT c.319_320delinsTT p.P107F Missense 3/16 - 1
12-112888303-C-G c.319C>G p.P107A Missense 3/16 - 1
12-112888303-C-T c.319C>T p.P107S Missense 3/16 - 3
12-112888302-T-TC c.320dup p.T108Yfs*3 Frameshift 3/16 - 1
12-112888304-C-T c.320C>T p.P107L Missense 3/16 - 1
12-112888306-ACC-GAG c.322_324delinsGAG p.T108E Missense 3/16 - 1
12-112888306-AC-GA c.322_323delinsGA p.T108D Missense 3/16 - 1
12-112888306-A-G c.322A>G p.T108A Missense 3/16 - 3
12-112888306-A-T c.322A>T p.T108S Missense 3/16 - 1
12-112888307-CC-TG c.323_324delinsTG p.T108M Missense 3/16 - 1
12-112888307-C-G c.323C>G p.T108S Missense 3/16 - 1
12-112888307-C-T c.323C>T p.T108I Missense 3/16 - 2
12-112888309-T-A c.325T>A p.S109T Missense 3/16 - 1
12-112888309-T-C c.325T>C p.S109P Missense 3/16 - 2
12-112888309-TC-AA c.325_326delinsAA p.S109N Missense 3/16 - 2
12-112888309-TC-AT c.325_326delinsAT p.S109I Missense 3/16 - 1
12-112888309-TC-CA c.325_326delinsCA p.S109H Missense 3/16 - 1
12-112888309-TC-CG c.325_326delinsCG p.S109R Missense 3/16 - 1
12-112888309-TC-CT c.325_326delinsCT p.S109L Missense 3/16 - 2
12-112888309-TC-GA c.325_326inv p.S109D Missense 3/16 - 1
12-112888309-TC-GG c.325_326delinsGG p.S109G Missense 3/16 - 1
12-112888309-TC-GT c.325_326delinsGT p.S109V Missense 3/16 - 1
12-112888309-TCT-AAG c.325_327delinsAAG p.S109K Missense 3/16 - 1
12-112888309-TCT-ATG c.325_327delinsATG p.S109M Missense 3/16 - 1
12-112888309-TCT-CAA c.325_327delinsCAA p.S109Q Missense 3/16 - 1
12-112888309-TCT-GAG c.325_327delinsGAG p.S109E Missense 3/16 - 1
12-112888309-T-G c.325T>G p.S109A Missense 3/16 - 1
12-112888310-C-A c.326C>A p.S109Y Missense 3/16 - 1
12-112888310-C-G c.326C>G p.S109C Missense 3/16 - 2
12-112888310-C-T c.326C>T p.S109F Missense 3/16 - 4
12-112888310-CT-GG c.326_327delinsGG p.S109W Missense 3/16 - 1
12-112888311-T-G c.327T>G p.S109= Synonymous 3/16 - 1
12-112888312-G-A c.328G>A p.E110K Missense 3/16 - 13
12-112888312-GAA-AAC c.328_330delinsAAC p.E110N Missense 3/16 - 1
12-112888312-GAAAGGTCAGTAACATTTTAGTGACCACAAAGTCTGCTGCTCCCTTGTGCCCTGAGTGT-CGAGAC c.328_332+54delinsCGAGAC - Multi:SpliceDonorBlockSubstitution,SpliceAcceptorBlockSubstitution 3/16 3/15 1
12-112888312-GAA-ATG c.328_330delinsATG p.E110M Missense 3/16 - 1
12-112888312-GA-AC c.328_329delinsAC p.E110T Missense 3/16 - 1
12-112888312-GAA-CAT c.328_330delinsCAT p.E110H Missense 3/16 - 1
12-112888312-GA-AG c.328_329delinsAG p.E110R Missense 3/16 - 1
12-112888312-GA-AT c.328_329delinsAT p.E110I Missense 3/16 - 1
12-112888312-GAA-TAT c.328_330delinsTAT p.E110Y Missense 3/16 - 1
12-112888312-GAA-TGG c.328_330delinsTGG p.E110W Missense 3/16 - 1
12-112888312-GAA-TGT c.328_330delinsTGT p.E110C Missense 3/16 - 1
12-112888312-GAA-TTT c.328_330delinsTTT p.E110F Missense 3/16 - 1
12-112888312-GA-CC c.328_329delinsCC p.E110P Missense 3/16 - 1
12-112888312-GA-CT c.328_329delinsCT p.E110L Missense 3/16 - 1
12-112888312-GA-TC c.328_329inv p.E110S Missense 3/16 - 1
12-112888312-G-C c.328G>C p.E110Q Missense 3/16 - 3
12-112888313-A-C c.329A>C p.E110A Missense 3/16 - 9
12-112888313-A-G c.329A>G p.E110G Missense 3/16 - 3
12-112888313-A-T c.329A>T p.E110V Missense 3/16 - 1
12-112888314-A-C c.330A>C p.E110D Missense 3/16 - 1
12-112888314-A-G c.330A>G p.E110= Synonymous 3/16 - 1
12-112888314-A-T c.330A>T p.E110D Missense 3/16 - 1
12-112888315-A-G c.331A>G p.R111G Missense 3/16 - 2
12-112888315-AG-CA c.331_332delinsCA p.R111Q Missense 3/16 - 3
12-112888315-AG-CC c.331_332delinsCC p.R111P Missense 3/16 - 1
12-112888315-AG-CT c.331_332inv p.R111L Missense 3/16 - 1
12-112888315-AG-GA c.331_332delinsGA p.R111E Missense 3/16 - 1
12-112888315-AG-GC c.331_332delinsGC p.R111A Missense 3/16 - 2
12-112888315-AG-GT c.331_332delinsGT p.R111V Missense 3/16 - 1
12-112888315-A-T c.331A>T p.R111W Missense 3/16 - 1
12-112888316-G-A c.332G>A p.R111K Missense 3/16 - 1
12-112888316-G-C c.332G>C p.R111T Missense 3/16 - 1
12-112888316-G-T c.332G>T p.R111M Missense 3/16 - 1
12-112888317-G-A c.332+1G>A - IntronicSNV - 3/15 1
12-112888318-T-C c.332+2T>C - IntronicSNV - 3/15 1
12-112888333-T-G c.332+17T>G - IntronicSNV - 3/15 2
12-112889204-G-A c.332+888G>A - IntronicSNV - 3/15 1
12-112890776-A-G c.333-223A>G - IntronicSNV - 3/15 17
12-112890999-G-C c.333G>C p.R111S Missense 4/16 - 1
12-112890999-G-T c.333G>T p.R111S Missense 4/16 - 1
12-112891000-T-A c.334T>A p.W112R Missense 4/16 - 1
12-112891000-T-C c.334T>C p.W112R Missense 4/16 - 1
12-112891000-T-G c.334T>G p.W112G Missense 4/16 - 1
12-112891000-TG-AA c.334_335delinsAA p.W112K Missense 4/16 - 1
12-112891000-TG-AC c.334_335delinsAC p.W112T Missense 4/16 - 1
12-112891000-TG-AT c.334_335delinsAT p.W112M Missense 4/16 - 1
12-112891000-TG-CA c.334_335inv p.W112Q Missense 4/16 - 1
12-112891000-TG-CC c.334_335delinsCC p.W112P Missense 4/16 - 1
12-112891000-TG-GA c.334_335delinsGA p.W112E Missense 4/16 - 1
12-112891000-TGG-AAC c.334_336delinsAAC p.W112N Missense 4/16 - 1
12-112891000-TGG-ATC c.334_336delinsATC p.W112I Missense 4/16 - 1
12-112891000-TG-GC c.334_335delinsGC p.W112A Missense 4/16 - 1
12-112891000-TGG-CAT c.334_336delinsCAT p.W112H Missense 4/16 - 1
12-112891000-TGG-GAC c.334_336delinsGAC p.W112D Missense 4/16 - 1
12-112891000-TG-GT c.334_335delinsGT p.W112V Missense 4/16 - 1
12-112891001-G-A c.335G>A p.W112* Nonsense 4/16 - 1
12-112891001-G-C c.335G>C p.W112S Missense 4/16 - 1
12-112891001-GG-AT c.335_336delinsAT p.W112Y Missense 4/16 - 1
12-112891001-GG-TT c.335_336delinsTT p.W112F Missense 4/16 - 1
12-112891001-G-T c.335G>T p.W112L Missense 4/16 - 1
12-112891002-G-A c.336G>A p.W112* Nonsense 4/16 - 1
12-112891002-G-C c.336G>C p.W112C Missense 4/16 - 1
12-112891002-G-T c.336G>T p.W112C Missense 4/16 - 1
12-112891003-T-A c.337T>A p.F113I Missense 4/16 - 2
12-112891003-T-C c.337T>C p.F113L Missense 4/16 - 2
12-112891003-T-G c.337T>G p.F113V Missense 4/16 - 2
12-112891003-TT-AA c.337_338inv p.F113N Missense 4/16 - 1
12-112891003-TT-AC c.337_338delinsAC p.F113T Missense 4/16 - 1
12-112891003-TT-CA c.337_338delinsCA p.F113H Missense 4/16 - 1
12-112891003-TT-CC c.337_338delinsCC p.F113P Missense 4/16 - 1
12-112891003-TT-CG c.337_338delinsCG p.F113R Missense 4/16 - 1
12-112891003-TT-GA c.337_338delinsGA p.F113D Missense 4/16 - 1
12-112891003-TT-GC c.337_338delinsGC p.F113A Missense 4/16 - 1
12-112891003-TT-GG c.337_338delinsGG p.F113G Missense 4/16 - 1
12-112891003-TTT-AAG c.337_339delinsAAG p.F113K Missense 4/16 - 1
12-112891003-TTT-ATG c.337_339delinsATG p.F113M Missense 4/16 - 1
12-112891003-TTT-CAA c.337_339delinsCAA p.F113Q Missense 4/16 - 1
12-112891003-TTT-GAG c.337_339delinsGAG p.F113E Missense 4/16 - 1
12-112891005-T-A c.339T>A p.F113L Missense 4/16 - 2
12-112891005-T-G c.339T>G p.F113L Missense 4/16 - 2
12-112891004-T-A c.338T>A p.F113Y Missense 4/16 - 1
12-112891004-T-C c.338T>C p.F113S Missense 4/16 - 1
12-112891004-T-G c.338T>G p.F113C Missense 4/16 - 2
12-112891004-TT-GG c.338_339delinsGG p.F113W Missense 4/16 - 1
12-112891006-C-A c.340C>A p.H114N Missense 4/16 - 1
12-112891006-CA-AC c.340_341delinsAC p.H114T Missense 4/16 - 1
12-112891006-CA-AG c.340_341delinsAG p.H114S Missense 4/16 - 1
12-112891006-CA-AT c.340_341delinsAT p.H114I Missense 4/16 - 1
12-112891006-CA-GC c.340_341delinsGC p.H114A Missense 4/16 - 2
12-112891006-CA-GG c.340_341delinsGG p.H114G Missense 4/16 - 1
12-112891006-CA-GT c.340_341delinsGT p.H114V Missense 4/16 - 1
12-112891006-CAT-AAG c.340_342delinsAAG p.H114K Missense 4/16 - 1
12-112891006-CAT-ATG c.340_342inv p.H114M Missense 4/16 - 1
12-112891006-CA-TG c.340_341inv p.H114C Missense 4/16 - 1
12-112891006-CAT-GAG c.340_342delinsGAG p.H114E Missense 4/16 - 1
12-112891006-CA-TT c.340_341delinsTT p.H114F Missense 4/16 - 1
12-112891006-CAT-TGG c.340_342delinsTGG p.H114W Missense 4/16 - 1
12-112891006-C-G c.340C>G p.H114D Missense 4/16 - 1
12-112891006-C-T c.340C>T p.H114Y Missense 4/16 - 7
12-112891007-A-C c.341A>C p.H114P Missense 4/16 - 1
12-112891007-A-G c.341A>G p.H114R Missense 4/16 - 1
12-112891007-A-T c.341A>T p.H114L Missense 4/16 - 1
12-112891008-T-A c.342T>A p.H114Q Missense 4/16 - 1
12-112891008-T-C c.342T>C p.H114= Synonymous 4/16 - 4
12-112891008-T-G c.342T>G p.H114Q Missense 4/16 - 1
12-112891009-G-A c.343G>A p.G115R Missense 4/16 - 3
12-112891009-G-C c.343G>C p.G115R Missense 4/16 - 1
12-112891009-GG-AA c.343_344delinsAA p.G115K Missense 4/16 - 1
12-112891009-GGA-AAC c.343_345delinsAAC p.G115N Missense 4/16 - 1
12-112891009-GGA-AGC c.343_345delinsAGC p.G115S Missense 4/16 - 1
12-112891009-GGA-ATG c.343_345delinsATG p.G115M Missense 4/16 - 1
12-112891009-GG-AC c.343_344delinsAC p.G115T Missense 4/16 - 1
12-112891009-GGA-CAT c.343_345delinsCAT p.G115H Missense 4/16 - 1
12-112891009-GG-AT c.343_344delinsAT p.G115I Missense 4/16 - 1
12-112891009-GGA-TAT c.343_345delinsTAT p.G115Y Missense 4/16 - 1
12-112891009-GGA-TGG c.343_345delinsTGG p.G115W Missense 4/16 - 1
12-112891009-GGA-TGT c.343_345delinsTGT p.G115C Missense 4/16 - 1
12-112891009-GGA-TTT c.343_345delinsTTT p.G115F Missense 4/16 - 1
12-112891009-GG-CA c.343_344delinsCA p.G115Q Missense 4/16 - 1
12-112891009-GG-CC c.343_344inv p.G115P Missense 4/16 - 1
12-112891009-GG-CT c.343_344delinsCT p.G115L Missense 4/16 - 1
12-112891010-G-A c.344G>A p.G115E Missense 4/16 - 3
12-112891010-GA-AC c.344_345delinsAC p.G115D Missense 4/16 - 1
12-112891010-G-C c.344G>C p.G115A Missense 4/16 - 1
12-112891010-G-T c.344G>T p.G115V Missense 4/16 - 1
12-112891012-C-A c.346C>A p.H116N Missense 4/16 - 1
12-112891012-CA-AC c.346_347delinsAC p.H116T Missense 4/16 - 1
12-112891012-CA-AG c.346_347delinsAG p.H116S Missense 4/16 - 1
12-112891012-CA-AT c.346_347delinsAT p.H116I Missense 4/16 - 1
12-112891012-CA-GC c.346_347delinsGC p.H116A Missense 4/16 - 2
12-112891012-CA-GG c.346_347delinsGG p.H116G Missense 4/16 - 1
12-112891012-CA-GT c.346_347delinsGT p.H116V Missense 4/16 - 1
12-112891012-CAT-AAG c.346_348delinsAAG p.H116K Missense 4/16 - 1
12-112891012-CAT-ATG c.346_348inv p.H116M Missense 4/16 - 1
12-112891012-CA-TG c.346_347inv p.H116C Missense 4/16 - 1
12-112891012-CAT-GAG c.346_348delinsGAG p.H116E Missense 4/16 - 1
12-112891012-CA-TT c.346_347delinsTT p.H116F Missense 4/16 - 1
12-112891012-CAT-TGG c.346_348delinsTGG p.H116W Missense 4/16 - 1
12-112891012-C-G c.346C>G p.H116D Missense 4/16 - 1
12-112891012-C-T c.346C>T p.H116Y Missense 4/16 - 2
12-112891013-A-C c.347A>C p.H116P Missense 4/16 - 1
12-112891013-A-G c.347A>G p.H116R Missense 4/16 - 1
12-112891013-A-T c.347A>T p.H116L Missense 4/16 - 1
12-112891014-T-A c.348T>A p.H116Q Missense 4/16 - 2
12-112891014-T-G c.348T>G p.H116Q Missense 4/16 - 2
12-112891015-C-A c.349C>A p.L117I Missense 4/16 - 1
12-112891015-C-G c.349C>G p.L117V Missense 4/16 - 2
12-112891015-C-T c.349C>T p.L117F Missense 4/16 - 10
12-112891015-CT-AA c.349_350delinsAA p.L117N Missense 4/16 - 1
12-112891015-CT-AC c.349_350delinsAC p.L117T Missense 4/16 - 1
12-112891015-CT-AG c.349_350inv p.L117S Missense 4/16 - 1
12-112891015-CTC-AAG c.349_351delinsAAG p.L117K Missense 4/16 - 1
12-112891015-CTC-ATG c.349_351delinsATG p.L117M Missense 4/16 - 1
12-112891015-CTC-GAG c.349_351inv p.L117E Missense 4/16 - 1
12-112891015-CTC-TGG c.349_351delinsTGG p.L117W Missense 4/16 - 1
12-112891015-CT-GA c.349_350delinsGA p.L117D Missense 4/16 - 1
12-112891015-CT-GC c.349_350delinsGC p.L117A Missense 4/16 - 2
12-112891015-CT-GG c.349_350delinsGG p.L117G Missense 4/16 - 1
12-112891015-CT-TA c.349_350delinsTA p.L117Y Missense 4/16 - 1
12-112891015-CT-TG c.349_350delinsTG p.L117C Missense 4/16 - 1
12-112891016-T-A c.350T>A p.L117H Missense 4/16 - 1
12-112891016-T-C c.350T>C p.L117P Missense 4/16 - 2
12-112891016-TC-AA c.350_351delinsAA p.L117Q Missense 4/16 - 1
12-112891016-T-G c.350T>G p.L117R Missense 4/16 - 1
12-112891017-C-T c.351C>T p.L117= Synonymous 4/16 - 1
12-112891018-T-A c.352T>A p.S118T Missense 4/16 - 1
12-112891018-T-C c.352T>C p.S118P Missense 4/16 - 2
12-112891018-TC-AA c.352_353delinsAA p.S118N Missense 4/16 - 1
12-112891018-TC-AT c.352_353delinsAT p.S118I Missense 4/16 - 1
12-112891018-TC-CA c.352_353delinsCA p.S118H Missense 4/16 - 1
12-112891018-TC-CG c.352_353delinsCG p.S118R Missense 4/16 - 1
12-112891018-TC-CT c.352_353delinsCT p.S118L Missense 4/16 - 1
12-112891018-TC-GA c.352_353inv p.S118D Missense 4/16 - 1
12-112891018-TC-GG c.352_353delinsGG p.S118G Missense 4/16 - 1
12-112891018-TC-GT c.352_353delinsGT p.S118V Missense 4/16 - 1
12-112891018-TCT-AAG c.352_354delinsAAG p.S118K Missense 4/16 - 1
12-112891018-TCT-ATG c.352_354delinsATG p.S118M Missense 4/16 - 1
12-112891018-TCT-CAA c.352_354delinsCAA p.S118Q Missense 4/16 - 1
12-112891018-TCT-GAG c.352_354delinsGAG p.S118E Missense 4/16 - 1
12-112891018-T-G c.352T>G p.S118A Missense 4/16 - 1
12-112891013-ATC-A c.353_354del p.S118Wfs*10 Frameshift 4/16 - 1
12-112891019-C-A c.353C>A p.S118Y Missense 4/16 - 1
12-112891019-C-G c.353C>G p.S118C Missense 4/16 - 1
12-112891019-C-T c.353C>T p.S118F Missense 4/16 - 1
12-112891019-CT-GG c.353_354delinsGG p.S118W Missense 4/16 - 1
12-112891021-G-A c.355G>A p.G119R Missense 4/16 - 1
12-112891021-G-C c.355G>C p.G119R Missense 4/16 - 1
12-112891021-GG-AA c.355_356delinsAA p.G119K Missense 4/16 - 1
12-112891021-GG-AC c.355_356delinsAC p.G119T Missense 4/16 - 1
12-112891021-GG-AT c.355_356delinsAT p.G119M Missense 4/16 - 1
12-112891021-GG-CA c.355_356delinsCA p.G119Q Missense 4/16 - 1
12-112891021-GG-CC c.355_356inv p.G119P Missense 4/16 - 1
12-112891021-GG-CT c.355_356delinsCT p.G119L Missense 4/16 - 1
12-112891021-GGG-AAC c.355_357delinsAAC p.G119N Missense 4/16 - 1
12-112891021-GGG-AGC c.355_357delinsAGC p.G119S Missense 4/16 - 1
12-112891021-GGG-ATC c.355_357delinsATC p.G119I Missense 4/16 - 1
12-112891021-GGG-CAT c.355_357delinsCAT p.G119H Missense 4/16 - 1
12-112891021-GGG-TAT c.355_357delinsTAT p.G119Y Missense 4/16 - 1
12-112891021-GGG-TGT c.355_357delinsTGT p.G119C Missense 4/16 - 1
12-112891021-GGG-TTT c.355_357delinsTTT p.G119F Missense 4/16 - 1
12-112891021-G-T c.355G>T p.G119W Missense 4/16 - 1
12-112891022-G-A c.356G>A p.G119E Missense 4/16 - 2
12-112891022-G-C c.356G>C p.G119A Missense 4/16 - 1
12-112891022-GG-AC c.356_357delinsAC p.G119D Missense 4/16 - 1
12-112891022-G-T c.356G>T p.G119V Missense 4/16 - 1
12-112891024-AAA-CAT c.358_360delinsCAT p.K120H Missense 4/16 - 1
12-112891024-AAA-GAC c.358_360delinsGAC p.K120D Missense 4/16 - 1
12-112891024-AAA-TAT c.358_360delinsTAT p.K120Y Missense 4/16 - 1
12-112891024-AAA-TGG c.358_360delinsTGG p.K120W Missense 4/16 - 1
12-112891024-AAA-TGT c.358_360delinsTGT p.K120C Missense 4/16 - 1
12-112891024-AAA-TTT c.358_360inv p.K120F Missense 4/16 - 1
12-112891024-AA-CC c.358_359delinsCC p.K120P Missense 4/16 - 1
12-112891024-AA-CT c.358_359delinsCT p.K120L Missense 4/16 - 1
12-112891024-AA-GC c.358_359delinsGC p.K120A Missense 4/16 - 2
12-112891024-AA-GG c.358_359delinsGG p.K120G Missense 4/16 - 1
12-112891024-AA-GT c.358_359delinsGT p.K120V Missense 4/16 - 1
12-112891024-A-C c.358A>C p.K120Q Missense 4/16 - 1
12-112891024-A-G c.358A>G p.K120E Missense 4/16 - 1
12-112891024-A-T c.358A>T p.K120* Nonsense 4/16 - 1
12-112891025-AA-GC c.359_360delinsGC p.K120S Missense 4/16 - 1
12-112891025-AA-TG c.359_360delinsTG p.K120M Missense 4/16 - 1
12-112891025-A-C c.359A>C p.K120T Missense 4/16 - 1
12-112891025-A-G c.359A>G p.K120R Missense 4/16 - 1
12-112891025-A-T c.359A>T p.K120I Missense 4/16 - 1
12-112891026-A-C c.360A>C p.K120N Missense 4/16 - 1
12-112891026-A-T c.360A>T p.K120N Missense 4/16 - 1
12-112891027-G-A c.361G>A p.E121K Missense 4/16 - 3
12-112891027-GAA-AAC c.361_363delinsAAC p.E121N Missense 4/16 - 1
12-112891027-GAA-ATG c.361_363delinsATG p.E121M Missense 4/16 - 1
12-112891027-GA-AC c.361_362delinsAC p.E121T Missense 4/16 - 1
12-112891027-GAA-CAT c.361_363delinsCAT p.E121H Missense 4/16 - 1
12-112891027-GA-AG c.361_362delinsAG p.E121R Missense 4/16 - 1
12-112891027-GA-AT c.361_362delinsAT p.E121I Missense 4/16 - 1
12-112891027-GAA-TAT c.361_363delinsTAT p.E121Y Missense 4/16 - 1
12-112891027-GAA-TGG c.361_363delinsTGG p.E121W Missense 4/16 - 1
12-112891027-GAA-TGT c.361_363delinsTGT p.E121C Missense 4/16 - 1
12-112891027-GAA-TTT c.361_363delinsTTT p.E121F Missense 4/16 - 1
12-112891027-GA-CC c.361_362delinsCC p.E121P Missense 4/16 - 1
12-112891027-GA-CT c.361_362delinsCT p.E121L Missense 4/16 - 1
12-112891027-GA-TC c.361_362inv p.E121S Missense 4/16 - 1
12-112891027-G-C c.361G>C p.E121Q Missense 4/16 - 2
12-112891027-G-T c.361G>T p.E121* Nonsense 4/16 - 1
12-112891028-A-C c.362A>C p.E121A Missense 4/16 - 3
12-112891028-A-G c.362A>G p.E121G Missense 4/16 - 1
12-112891028-A-T c.362A>T p.E121V Missense 4/16 - 1
12-112891029-A-C c.363A>C p.E121D Missense 4/16 - 2
12-112891029-A-T c.363A>T p.E121D Missense 4/16 - 2
12-112891030-G-A c.364G>A p.A122T Missense 4/16 - 5
12-112891030-G-C c.364G>C p.A122P Missense 4/16 - 2
12-112891030-GC-AA c.364_365delinsAA p.A122K Missense 4/16 - 1
12-112891030-GCA-AAC c.364_366delinsAAC p.A122N Missense 4/16 - 1
12-112891030-GCA-ATG c.364_366delinsATG p.A122M Missense 4/16 - 1
12-112891030-GCA-CAT c.364_366delinsCAT p.A122H Missense 4/16 - 1
12-112891030-GC-AG c.364_365delinsAG p.A122R Missense 4/16 - 1
12-112891030-GC-AT c.364_365delinsAT p.A122I Missense 4/16 - 1
12-112891030-GCA-TAT c.364_366delinsTAT p.A122Y Missense 4/16 - 1
12-112891030-GCA-TGG c.364_366delinsTGG p.A122W Missense 4/16 - 1
12-112891030-GCA-TGT c.364_366delinsTGT p.A122C Missense 4/16 - 1
12-112891030-GCA-TTT c.364_366delinsTTT p.A122F Missense 4/16 - 1
12-112891030-GC-CA c.364_365delinsCA p.A122Q Missense 4/16 - 1
12-112891030-GC-CT c.364_365delinsCT p.A122L Missense 4/16 - 1
12-112891030-G-T c.364G>T p.A122S Missense 4/16 - 2
12-112891031-C-A c.365C>A p.A122E Missense 4/16 - 1
12-112891031-CA-AC c.365_366delinsAC p.A122D Missense 4/16 - 1
12-112891031-C-G c.365C>G p.A122G Missense 4/16 - 3
12-112891031-C-T c.365C>T p.A122V Missense 4/16 - 4
12-112891033-G-A c.367G>A p.E123K Missense 4/16 - 1
12-112891033-GA-AC c.367_368delinsAC p.E123T Missense 4/16 - 1
12-112891033-GA-AG c.367_368delinsAG p.E123R Missense 4/16 - 1
12-112891033-GA-AT c.367_368delinsAT p.E123M Missense 4/16 - 1
12-112891033-GA-CC c.367_368delinsCC p.E123P Missense 4/16 - 1
12-112891033-GA-CT c.367_368delinsCT p.E123L Missense 4/16 - 1
12-112891033-GAG-AAC c.367_369delinsAAC p.E123N Missense 4/16 - 1
12-112891033-GAG-ATC c.367_369delinsATC p.E123I Missense 4/16 - 1
12-112891033-GAG-CAT c.367_369delinsCAT p.E123H Missense 4/16 - 1
12-112891033-GAG-TAT c.367_369delinsTAT p.E123Y Missense 4/16 - 1
12-112891033-GAG-TGT c.367_369delinsTGT p.E123C Missense 4/16 - 1
12-112891033-GAG-TTT c.367_369delinsTTT p.E123F Missense 4/16 - 1
12-112891033-GA-TC c.367_368inv p.E123S Missense 4/16 - 1
12-112891033-GA-TG c.367_368delinsTG p.E123W Missense 4/16 - 1
12-112891033-G-C c.367G>C p.E123Q Missense 4/16 - 2
12-112891034-A-C c.368A>C p.E123A Missense 4/16 - 2
12-112891034-A-G c.368A>G p.E123G Missense 4/16 - 1
12-112891034-A-T c.368A>T p.E123V Missense 4/16 - 1
12-112891035-G-C c.369G>C p.E123D Missense 4/16 - 7
12-112891035-G-T c.369G>T p.E123D Missense 4/16 - 15
12-112891036-AAA-CAT c.370_372delinsCAT p.K124H Missense 4/16 - 1
12-112891036-AAA-GAC c.370_372delinsGAC p.K124D Missense 4/16 - 2
12-112891036-AAA-TAT c.370_372delinsTAT p.K124Y Missense 4/16 - 1
12-112891036-AAA-TGG c.370_372delinsTGG p.K124W Missense 4/16 - 1
12-112891036-AAA-TGT c.370_372delinsTGT p.K124C Missense 4/16 - 1
12-112891036-AAA-TTT c.370_372inv p.K124F Missense 4/16 - 1
12-112891036-AA-CC c.370_371delinsCC p.K124P Missense 4/16 - 1
12-112891036-AA-CT c.370_371delinsCT p.K124L Missense 4/16 - 1
12-112891036-AA-GC c.370_371delinsGC p.K124A Missense 4/16 - 4
12-112891036-AA-GG c.370_371delinsGG p.K124G Missense 4/16 - 1
12-112891036-AA-GT c.370_371delinsGT p.K124V Missense 4/16 - 1
12-112891036-A-C c.370A>C p.K124Q Missense 4/16 - 1
12-112891036-A-G c.370A>G p.K124E Missense 4/16 - 3
12-112891037-AA-GC c.371_372delinsGC p.K124S Missense 4/16 - 1
12-112891037-AA-TG c.371_372delinsTG p.K124M Missense 4/16 - 1
12-112891037-A-C c.371A>C p.K124T Missense 4/16 - 2
12-112891037-A-G c.371A>G p.K124R Missense 4/16 - 2
12-112891037-A-T c.371A>T p.K124I Missense 4/16 - 1
12-112891038-A-C c.372A>C p.K124N Missense 4/16 - 1
12-112891038-A-T c.372A>T p.K124N Missense 4/16 - 1
12-112891039-T-A c.373T>A p.L125I Missense 4/16 - 2
12-112891039-T-G c.373T>G p.L125V Missense 4/16 - 3
12-112891039-TT-AA c.373_374inv p.L125K Missense 4/16 - 1
12-112891039-TTA-AAC c.373_375delinsAAC p.L125N Missense 4/16 - 1
12-112891039-TTA-ATG c.373_375delinsATG p.L125M Missense 4/16 - 1
12-112891039-TT-AC c.373_374delinsAC p.L125T Missense 4/16 - 1
12-112891039-TTA-CAT c.373_375delinsCAT p.L125H Missense 4/16 - 1
12-112891039-TT-AG c.373_374delinsAG p.L125R Missense 4/16 - 1
12-112891039-TTA-GAC c.373_375delinsGAC p.L125D Missense 4/16 - 1
12-112891039-TT-CA c.373_374delinsCA p.L125Q Missense 4/16 - 1
12-112891039-TT-CC c.373_374delinsCC p.L125P Missense 4/16 - 1
12-112891039-TT-GA c.373_374delinsGA p.L125E Missense 4/16 - 1
12-112891039-TT-GC c.373_374delinsGC p.L125A Missense 4/16 - 2
12-112891039-TT-GG c.373_374delinsGG p.L125G Missense 4/16 - 1
12-112891040-TA-AT c.374_375delinsAT p.L125Y Missense 4/16 - 1
12-112891040-TA-GG c.374_375delinsGG p.L125W Missense 4/16 - 1
12-112891040-TA-GT c.374_375delinsGT p.L125C Missense 4/16 - 1
12-112891040-T-C c.374T>C p.L125S Missense 4/16 - 1
12-112891040-T-G c.374T>G p.L125* Nonsense 4/16 - 1
12-112891041-A-C c.375A>C p.L125F Missense 4/16 - 1
12-112891041-A-T c.375A>T p.L125F Missense 4/16 - 1
12-112891042-T-A c.376T>A p.L126I Missense 4/16 - 1
12-112891042-T-G c.376T>G p.L126V Missense 4/16 - 1
12-112891042-TT-AA c.376_377inv p.L126K Missense 4/16 - 1
12-112891042-TTA-AAC c.376_378delinsAAC p.L126N Missense 4/16 - 1
12-112891042-TTA-ATG c.376_378delinsATG p.L126M Missense 4/16 - 1
12-112891042-TT-AC c.376_377delinsAC p.L126T Missense 4/16 - 1
12-112891042-TTA-CAT c.376_378delinsCAT p.L126H Missense 4/16 - 1
12-112891042-TT-AG c.376_377delinsAG p.L126R Missense 4/16 - 1
12-112891042-TTA-GAC c.376_378delinsGAC p.L126D Missense 4/16 - 1
12-112891042-TT-CA c.376_377delinsCA p.L126Q Missense 4/16 - 1
12-112891042-TT-CC c.376_377delinsCC p.L126P Missense 4/16 - 1
12-112891042-TT-GA c.376_377delinsGA p.L126E Missense 4/16 - 1
12-112891042-TT-GC c.376_377delinsGC p.L126A Missense 4/16 - 3
12-112891042-TT-GG c.376_377delinsGG p.L126G Missense 4/16 - 1
12-112891043-TA-AT c.377_378delinsAT p.L126Y Missense 4/16 - 1
12-112891043-TA-GG c.377_378delinsGG p.L126W Missense 4/16 - 1
12-112891043-TA-GT c.377_378delinsGT p.L126C Missense 4/16 - 1
12-112891043-T-C c.377T>C p.L126S Missense 4/16 - 3
12-112891044-A-C c.378A>C p.L126F Missense 4/16 - 2
12-112891044-A-T c.378A>T p.L126F Missense 4/16 - 2
12-112891045-A-C c.379A>C p.T127P Missense 4/16 - 2
12-112891045-AC-CA c.379_380delinsCA p.T127H Missense 4/16 - 1
12-112891045-AC-CT c.379_380delinsCT p.T127L Missense 4/16 - 1
12-112891045-AC-GA c.379_380delinsGA p.T127D Missense 4/16 - 1
12-112891045-AC-GG c.379_380delinsGG p.T127G Missense 4/16 - 1
12-112891045-AC-GT c.379_380inv p.T127V Missense 4/16 - 1
12-112891045-AC-TA c.379_380delinsTA p.T127Y Missense 4/16 - 1
12-112891045-ACT-CAA c.379_381delinsCAA p.T127Q Missense 4/16 - 1
12-112891045-AC-TG c.379_380delinsTG p.T127C Missense 4/16 - 1
12-112891045-ACT-GAG c.379_381delinsGAG p.T127E Missense 4/16 - 1
12-112891045-AC-TT c.379_380delinsTT p.T127F Missense 4/16 - 1
12-112891045-ACT-TGG c.379_381delinsTGG p.T127W Missense 4/16 - 1
12-112891045-A-G c.379A>G p.T127A Missense 4/16 - 2
12-112891045-A-T c.379A>T p.T127S Missense 4/16 - 3
12-112891046-C-A c.380C>A p.T127N Missense 4/16 - 2
12-112891046-C-G c.380C>G p.T127S Missense 4/16 - 3
12-112891046-C-T c.380C>T p.T127I Missense 4/16 - 6
12-112891046-CT-AG c.380_381inv p.T127K Missense 4/16 - 1
12-112891046-CT-GG c.380_381delinsGG p.T127R Missense 4/16 - 1
12-112891046-CT-TG c.380_381delinsTG p.T127M Missense 4/16 - 1
12-112891048-G-A c.382G>A p.E128K Missense 4/16 - 1
12-112891048-GAA-AAC c.382_384delinsAAC p.E128N Missense 4/16 - 1
12-112891048-GAA-ATG c.382_384delinsATG p.E128M Missense 4/16 - 1
12-112891048-GA-AC c.382_383delinsAC p.E128T Missense 4/16 - 1
12-112891048-GAA-CAT c.382_384delinsCAT p.E128H Missense 4/16 - 1
12-112891048-GA-AG c.382_383delinsAG p.E128R Missense 4/16 - 1
12-112891048-GA-AT c.382_383delinsAT p.E128I Missense 4/16 - 1
12-112891048-GAA-TAT c.382_384delinsTAT p.E128Y Missense 4/16 - 1
12-112891048-GAA-TGG c.382_384delinsTGG p.E128W Missense 4/16 - 1
12-112891048-GAA-TGT c.382_384delinsTGT p.E128C Missense 4/16 - 1
12-112891048-GAA-TTT c.382_384delinsTTT p.E128F Missense 4/16 - 1
12-112891048-GA-CC c.382_383delinsCC p.E128P Missense 4/16 - 1
12-112891048-GA-CT c.382_383delinsCT p.E128L Missense 4/16 - 1
12-112891048-GA-TC c.382_383inv p.E128S Missense 4/16 - 1
12-112891048-G-C c.382G>C p.E128Q Missense 4/16 - 1
12-112891048-G-T c.382G>T p.E128* Nonsense 4/16 - 1
12-112891049-A-C c.383A>C p.E128A Missense 4/16 - 2
12-112891049-A-G c.383A>G p.E128G Missense 4/16 - 1
12-112891049-A-T c.383A>T p.E128V Missense 4/16 - 1
12-112891050-A-C c.384A>C p.E128D Missense 4/16 - 1
12-112891050-A-T c.384A>T p.E128D Missense 4/16 - 1
12-112891054-G-A c.388G>A p.G130R Missense 4/16 - 1
12-112891054-G-C c.388G>C p.G130R Missense 4/16 - 1
12-112891054-GG-AA c.388_389delinsAA p.G130K Missense 4/16 - 1
12-112891054-GGA-AAC c.388_390delinsAAC p.G130N Missense 4/16 - 1
12-112891054-GGA-AGC c.388_390delinsAGC p.G130S Missense 4/16 - 1
12-112891054-GGA-ATG c.388_390delinsATG p.G130M Missense 4/16 - 1
12-112891054-GG-AC c.388_389delinsAC p.G130T Missense 4/16 - 1
12-112891054-GGA-CAT c.388_390delinsCAT p.G130H Missense 4/16 - 1
12-112891054-GG-AT c.388_389delinsAT p.G130I Missense 4/16 - 1
12-112891054-GGA-TAT c.388_390delinsTAT p.G130Y Missense 4/16 - 1
12-112891054-GGA-TGG c.388_390delinsTGG p.G130W Missense 4/16 - 1
12-112891054-GGA-TGT c.388_390delinsTGT p.G130C Missense 4/16 - 1
12-112891054-GGA-TTT c.388_390delinsTTT p.G130F Missense 4/16 - 1
12-112891054-GG-CA c.388_389delinsCA p.G130Q Missense 4/16 - 1
12-112891054-GG-CC c.388_389inv p.G130P Missense 4/16 - 1
12-112891054-GG-CT c.388_389delinsCT p.G130L Missense 4/16 - 1
12-112891055-G-A c.389G>A p.G130E Missense 4/16 - 2
12-112891055-GA-AC c.389_390delinsAC p.G130D Missense 4/16 - 1
12-112891055-G-C c.389G>C p.G130A Missense 4/16 - 1
12-112891055-G-T c.389G>T p.G130V Missense 4/16 - 1
12-112891057-AAA-CAT c.391_393delinsCAT p.K131H Missense 4/16 - 1
12-112891057-AAA-GAC c.391_393delinsGAC p.K131D Missense 4/16 - 1
12-112891057-AAA-TAT c.391_393delinsTAT p.K131Y Missense 4/16 - 1
12-112891057-AAA-TGG c.391_393delinsTGG p.K131W Missense 4/16 - 1
12-112891057-AAA-TGT c.391_393delinsTGT p.K131C Missense 4/16 - 1
12-112891057-AAA-TTT c.391_393inv p.K131F Missense 4/16 - 1
12-112891057-AA-CC c.391_392delinsCC p.K131P Missense 4/16 - 1
12-112891057-AA-CT c.391_392delinsCT p.K131L Missense 4/16 - 1
12-112891057-AA-GC c.391_392delinsGC p.K131A Missense 4/16 - 2
12-112891057-AA-GG c.391_392delinsGG p.K131G Missense 4/16 - 1
12-112891057-AA-GT c.391_392delinsGT p.K131V Missense 4/16 - 1
12-112891057-A-C c.391A>C p.K131Q Missense 4/16 - 1
12-112891057-A-G c.391A>G p.K131E Missense 4/16 - 4
12-112891058-AA-GC c.392_393delinsGC p.K131S Missense 4/16 - 1
12-112891058-AA-TG c.392_393delinsTG p.K131M Missense 4/16 - 1
12-112891058-A-C c.392A>C p.K131T Missense 4/16 - 1
12-112891058-A-G c.392A>G p.K131R Missense 4/16 - 5
12-112891058-A-T c.392A>T p.K131I Missense 4/16 - 1
12-112891059-A-C c.393A>C p.K131N Missense 4/16 - 1
12-112891059-A-T c.393A>T p.K131N Missense 4/16 - 1
12-112891060-C-A c.394C>A p.H132N Missense 4/16 - 1
12-112891060-CA-AC c.394_395delinsAC p.H132T Missense 4/16 - 1
12-112891060-CA-AG c.394_395delinsAG p.H132S Missense 4/16 - 1
12-112891060-CA-AT c.394_395delinsAT p.H132I Missense 4/16 - 1
12-112891060-CA-GC c.394_395delinsGC p.H132A Missense 4/16 - 2
12-112891060-CA-GG c.394_395delinsGG p.H132G Missense 4/16 - 1
12-112891060-CA-GT c.394_395delinsGT p.H132V Missense 4/16 - 1
12-112891060-CAT-AAG c.394_396delinsAAG p.H132K Missense 4/16 - 1
12-112891060-CAT-ATG c.394_396inv p.H132M Missense 4/16 - 1
12-112891060-CA-TG c.394_395inv p.H132C Missense 4/16 - 1
12-112891060-CAT-GAG c.394_396delinsGAG p.H132E Missense 4/16 - 1
12-112891060-CA-TT c.394_395delinsTT p.H132F Missense 4/16 - 1
12-112891060-CAT-TGG c.394_396delinsTGG p.H132W Missense 4/16 - 1
12-112891060-C-G c.394C>G p.H132D Missense 4/16 - 1
12-112891060-C-T c.394C>T p.H132Y Missense 4/16 - 1
12-112891061-A-C c.395A>C p.H132P Missense 4/16 - 1
12-112891061-A-G c.395A>G p.H132R Missense 4/16 - 2
12-112891061-A-T c.395A>T p.H132L Missense 4/16 - 1
12-112891062-T-A c.396T>A p.H132Q Missense 4/16 - 1
12-112891062-T-C c.396T>C p.H132= Synonymous 4/16 - 2
12-112891062-T-G c.396T>G p.H132Q Missense 4/16 - 1
12-112891063-G-A c.397G>A p.G133S Missense 4/16 - 2
12-112891063-G-C c.397G>C p.G133R Missense 4/16 - 1
12-112891063-GG-AA c.397_398delinsAA p.G133N Missense 4/16 - 1
12-112891063-GG-AC c.397_398delinsAC p.G133T Missense 4/16 - 1
12-112891063-GG-AT c.397_398delinsAT p.G133I Missense 4/16 - 1
12-112891063-GG-CA c.397_398delinsCA p.G133H Missense 4/16 - 1
12-112891063-GG-CC c.397_398inv p.G133P Missense 4/16 - 1
12-112891063-GG-CT c.397_398delinsCT p.G133L Missense 4/16 - 1
12-112891063-GG-TA c.397_398delinsTA p.G133Y Missense 4/16 - 1
12-112891063-GGT-AAG c.397_399delinsAAG p.G133K Missense 4/16 - 1
12-112891063-GGT-ATG c.397_399delinsATG p.G133M Missense 4/16 - 1
12-112891063-GGT-CAA c.397_399delinsCAA p.G133Q Missense 4/16 - 1
12-112891063-GG-TT c.397_398delinsTT p.G133F Missense 4/16 - 1
12-112891063-GGT-TGG c.397_399delinsTGG p.G133W Missense 4/16 - 1
12-112891063-G-T c.397G>T p.G133C Missense 4/16 - 3
12-112891064-G-A c.398G>A p.G133D Missense 4/16 - 1
12-112891064-G-C c.398G>C p.G133A Missense 4/16 - 1
12-112891064-G-T c.398G>T p.G133V Missense 4/16 - 1
12-112891064-GT-AG c.398_399delinsAG p.G133E Missense 4/16 - 1
12-112891065-T-C c.399T>C p.G133= Synonymous 4/16 - 1
12-112891066-A-G c.400A>G p.S134G Missense 4/16 - 1
12-112891066-AG-CA c.400_401delinsCA p.S134H Missense 4/16 - 1
12-112891066-AG-CC c.400_401delinsCC p.S134P Missense 4/16 - 3
12-112891066-AG-CT c.400_401inv p.S134L Missense 4/16 - 1
12-112891066-AG-GA c.400_401delinsGA p.S134D Missense 4/16 - 1
12-112891066-AG-GC c.400_401delinsGC p.S134A Missense 4/16 - 2
12-112891066-AG-GT c.400_401delinsGT p.S134V Missense 4/16 - 1
12-112891066-AG-TA c.400_401delinsTA p.S134Y Missense 4/16 - 1
12-112891066-AGT-CAA c.400_402delinsCAA p.S134Q Missense 4/16 - 1
12-112891066-AGT-GAG c.400_402delinsGAG p.S134E Missense 4/16 - 1
12-112891066-AG-TT c.400_401delinsTT p.S134F Missense 4/16 - 2
12-112891066-AGT-TGG c.400_402delinsTGG p.S134W Missense 4/16 - 1
12-112891066-A-T c.400A>T p.S134C Missense 4/16 - 1
12-112891067-G-A c.401G>A p.S134N Missense 4/16 - 1
12-112891067-G-C c.401G>C p.S134T Missense 4/16 - 1
12-112891067-G-T c.401G>T p.S134I Missense 4/16 - 1
12-112891067-GT-AG c.401_402delinsAG p.S134K Missense 4/16 - 1
12-112891067-GT-TG c.401_402delinsTG p.S134M Missense 4/16 - 1
12-112891066-A-C c.400A>C p.S134R Missense 4/16 - 1
12-112891068-T-A c.402T>A p.S134R Missense 4/16 - 1
12-112891068-T-C c.402T>C p.S134= Synonymous 4/16 - 1
12-112891068-T-G c.402T>G p.S134R Missense 4/16 - 1
12-112891069-T-A c.403T>A p.F135I Missense 4/16 - 1
12-112891069-T-C c.403T>C p.F135L Missense 4/16 - 1
12-112891069-T-G c.403T>G p.F135V Missense 4/16 - 2
12-112891069-TT-AA c.403_404inv p.F135N Missense 4/16 - 1
12-112891069-TT-AC c.403_404delinsAC p.F135T Missense 4/16 - 1
12-112891069-TT-CA c.403_404delinsCA p.F135H Missense 4/16 - 1
12-112891069-TT-CC c.403_404delinsCC p.F135P Missense 4/16 - 1
12-112891069-TT-CG c.403_404delinsCG p.F135R Missense 4/16 - 1
12-112891069-TT-GA c.403_404delinsGA p.F135D Missense 4/16 - 1
12-112891069-TT-GC c.403_404delinsGC p.F135A Missense 4/16 - 2
12-112891069-TT-GG c.403_404delinsGG p.F135G Missense 4/16 - 1
12-112891069-TTT-AAG c.403_405delinsAAG p.F135K Missense 4/16 - 1
12-112891069-TTT-ATG c.403_405delinsATG p.F135M Missense 4/16 - 1
12-112891069-TTT-CAA c.403_405delinsCAA p.F135Q Missense 4/16 - 1
12-112891069-TTT-GAG c.403_405delinsGAG p.F135E Missense 4/16 - 1
12-112891071-T-A c.405T>A p.F135L Missense 4/16 - 1
12-112891071-T-G c.405T>G p.F135L Missense 4/16 - 1
12-112891070-T-A c.404T>A p.F135Y Missense 4/16 - 1
12-112891070-T-C c.404T>C p.F135S Missense 4/16 - 1
12-112891070-T-G c.404T>G p.F135C Missense 4/16 - 1
12-112891070-TT-GG c.404_405delinsGG p.F135W Missense 4/16 - 1
12-112891072-C-A c.406C>A p.L136I Missense 4/16 - 1
12-112891072-C-G c.406C>G p.L136V Missense 4/16 - 1
12-112891072-C-T c.406C>T p.L136F Missense 4/16 - 1
12-112891072-CT-AA c.406_407delinsAA p.L136N Missense 4/16 - 1
12-112891072-CT-AC c.406_407delinsAC p.L136T Missense 4/16 - 1
12-112891072-CT-AG c.406_407inv p.L136S Missense 4/16 - 1
12-112891072-CT-GA c.406_407delinsGA p.L136D Missense 4/16 - 1
12-112891072-CT-GC c.406_407delinsGC p.L136A Missense 4/16 - 2
12-112891072-CT-GG c.406_407delinsGG p.L136G Missense 4/16 - 1
12-112891072-CT-TA c.406_407delinsTA p.L136Y Missense 4/16 - 1
12-112891072-CTT-AAG c.406_408inv p.L136K Missense 4/16 - 1
12-112891072-CTT-ATG c.406_408delinsATG p.L136M Missense 4/16 - 2
12-112891072-CT-TG c.406_407delinsTG p.L136C Missense 4/16 - 1
12-112891072-CTT-GAG c.406_408delinsGAG p.L136E Missense 4/16 - 1
12-112891072-CTT-TGG c.406_408delinsTGG p.L136W Missense 4/16 - 1
12-112891073-T-A c.407T>A p.L136H Missense 4/16 - 8
12-112891073-T-C c.407T>C p.L136P Missense 4/16 - 1
12-112891073-T-G c.407T>G p.L136R Missense 4/16 - 1
12-112891073-TT-AA c.407_408inv p.L136Q Missense 4/16 - 2
12-112891074-T-C c.408T>C p.L136= Synonymous 4/16 - 1
12-112891075-G-A c.409G>A p.V137I Missense 4/16 - 2
12-112891075-G-C c.409G>C p.V137L Missense 4/16 - 1
12-112891075-G-T c.409G>T p.V137L Missense 4/16 - 1
12-112891075-GT-AA c.409_410delinsAA p.V137K Missense 4/16 - 1
12-112891075-GTA-AAC c.409_411delinsAAC p.V137N Missense 4/16 - 1
12-112891075-GTA-ATG c.409_411delinsATG p.V137M Missense 4/16 - 1
12-112891075-GT-AC c.409_410inv p.V137T Missense 4/16 - 1
12-112891075-GTA-CAT c.409_411delinsCAT p.V137H Missense 4/16 - 1
12-112891075-GT-AG c.409_410delinsAG p.V137R Missense 4/16 - 1
12-112891075-GTA-TAT c.409_411delinsTAT p.V137Y Missense 4/16 - 1
12-112891075-GTA-TGG c.409_411delinsTGG p.V137W Missense 4/16 - 1
12-112891075-GTA-TGT c.409_411delinsTGT p.V137C Missense 4/16 - 1
12-112891075-GTA-TTT c.409_411delinsTTT p.V137F Missense 4/16 - 1
12-112891075-GT-CA c.409_410delinsCA p.V137Q Missense 4/16 - 1
12-112891075-GT-CC c.409_410delinsCC p.V137P Missense 4/16 - 1
12-112891075-GT-TC c.409_410delinsTC p.V137S Missense 4/16 - 1
12-112891075-TGTACG-T c.409_413del p.V137Rfs*17 Frameshift 4/16 - 2
12-112891076-T-A c.410T>A p.V137E Missense 4/16 - 2
12-112891076-TA-AC c.410_411delinsAC p.V137D Missense 4/16 - 1
12-112891076-T-C c.410T>C p.V137A Missense 4/16 - 3
12-112891076-T-G c.410T>G p.V137G Missense 4/16 - 1
12-112891078-C-G c.412C>G p.R138G Missense 4/16 - 3
12-112891078-CG-AA c.412_413delinsAA p.R138K Missense 4/16 - 3
12-112891078-CGA-AAC c.412_414delinsAAC p.R138N Missense 4/16 - 1
12-112891078-CGA-AGC c.412_414delinsAGC p.R138S Missense 4/16 - 1
12-112891078-CGA-ATG c.412_414delinsATG p.R138M Missense 4/16 - 2
12-112891078-CG-AC c.412_413delinsAC p.R138T Missense 4/16 - 1
12-112891078-CGA-GAC c.412_414delinsGAC p.R138D Missense 4/16 - 1
12-112891078-CG-AT c.412_413delinsAT p.R138I Missense 4/16 - 1
12-112891078-CGA-TAT c.412_414delinsTAT p.R138Y Missense 4/16 - 1
12-112891078-CGA-TGG c.412_414delinsTGG p.R138W Missense 4/16 - 1
12-112891078-CGA-TGT c.412_414delinsTGT p.R138C Missense 4/16 - 1
12-112891078-CGA-TTT c.412_414delinsTTT p.R138F Missense 4/16 - 1
12-112891078-CG-GA c.412_413delinsGA p.R138E Missense 4/16 - 3
12-112891078-CG-GC c.412_413delinsGC p.R138A Missense 4/16 - 5
12-112891078-CG-GT c.412_413delinsGT p.R138V Missense 4/16 - 1
12-112891078-C-T c.412C>T p.R138* Nonsense 4/16 - 5
12-112891079-G-A c.413G>A p.R138Q Missense 4/16 - 3
12-112891079-GA-AT c.413_414delinsAT p.R138H Missense 4/16 - 1
12-112891079-G-C c.413G>C p.R138P Missense 4/16 - 1
12-112891079-G-T c.413G>T p.R138L Missense 4/16 - 2
12-112891081-G-A c.415G>A p.E139K Missense 4/16 - 5
12-112891081-GA-AC c.415_416delinsAC p.E139T Missense 4/16 - 1
12-112891081-GA-AG c.415_416delinsAG p.E139R Missense 4/16 - 1
12-112891081-GA-AT c.415_416delinsAT p.E139M Missense 4/16 - 1
12-112891081-GA-CC c.415_416delinsCC p.E139P Missense 4/16 - 1
12-112891081-GA-CT c.415_416delinsCT p.E139L Missense 4/16 - 1
12-112891081-GAG-AAC c.415_417delinsAAC p.E139N Missense 4/16 - 2
12-112891081-GAG-ATC c.415_417delinsATC p.E139I Missense 4/16 - 1
12-112891081-GAG-CAT c.415_417delinsCAT p.E139H Missense 4/16 - 1
12-112891081-GAG-TAT c.415_417delinsTAT p.E139Y Missense 4/16 - 1
12-112891081-GAG-TGT c.415_417delinsTGT p.E139C Missense 4/16 - 1
12-112891081-GAG-TTT c.415_417delinsTTT p.E139F Missense 4/16 - 1
12-112891081-GA-TC c.415_416inv p.E139S Missense 4/16 - 1
12-112891081-GA-TG c.415_416delinsTG p.E139W Missense 4/16 - 1
12-112891081-G-C c.415G>C p.E139Q Missense 4/16 - 1
12-112891082-A-C c.416A>C p.E139A Missense 4/16 - 1
12-112891082-A-G c.416A>G p.E139G Missense 4/16 - 4
12-112891082-A-T c.416A>T p.E139V Missense 4/16 - 1
12-112891082-A-AG c.417dup p.S140Efs*16 Frameshift 4/16 - 1
12-112891083-G-C c.417G>C p.E139D Missense 4/16 - 80
12-112891083-G-T c.417G>T p.E139D Missense 4/16 - 37
12-112891084-A-G c.418A>G p.S140G Missense 4/16 - 1
12-112891084-AG-CA c.418_419delinsCA p.S140H Missense 4/16 - 1
12-112891084-AG-CC c.418_419delinsCC p.S140P Missense 4/16 - 1
12-112891084-AGC-CAA c.418_420delinsCAA p.S140Q Missense 4/16 - 1
12-112891084-AGC-GAG c.418_420delinsGAG p.S140E Missense 4/16 - 1
12-112891084-AG-CT c.418_419inv p.S140L Missense 4/16 - 1
12-112891084-AGC-TGG c.418_420delinsTGG p.S140W Missense 4/16 - 1
12-112891084-AG-GA c.418_419delinsGA p.S140D Missense 4/16 - 1
12-112891084-AG-GC c.418_419delinsGC p.S140A Missense 4/16 - 1
12-112891084-AG-GT c.418_419delinsGT p.S140V Missense 4/16 - 1
12-112891084-AG-TA c.418_419delinsTA p.S140Y Missense 4/16 - 1
12-112891084-AG-TT c.418_419delinsTT p.S140F Missense 4/16 - 3
12-112891084-A-T c.418A>T p.S140C Missense 4/16 - 3
12-112891085-G-A c.419G>A p.S140N Missense 4/16 - 3
12-112891085-G-C c.419G>C p.S140T Missense 4/16 - 1
12-112891085-GC-AG c.419_420delinsAG p.S140K Missense 4/16 - 1
12-112891085-GC-TG c.419_420delinsTG p.S140M Missense 4/16 - 1
12-112891085-G-T c.419G>T p.S140I Missense 4/16 - 2
12-112891084-A-C c.418A>C p.S140R Missense 4/16 - 3
12-112891086-C-A c.420C>A p.S140R Missense 4/16 - 3
12-112891086-C-G c.420C>G p.S140R Missense 4/16 - 3
12-112891087-C-A c.421C>A p.Q141K Missense 4/16 - 1
12-112891087-CA-AC c.421_422delinsAC p.Q141T Missense 4/16 - 1
12-112891087-CA-AT c.421_422delinsAT p.Q141M Missense 4/16 - 1
12-112891087-CAG-AAC c.421_423delinsAAC p.Q141N Missense 4/16 - 1
12-112891087-CAG-ATC c.421_423delinsATC p.Q141I Missense 4/16 - 1
12-112891087-CA-GC c.421_422delinsGC p.Q141A Missense 4/16 - 1
12-112891087-CA-GG c.421_422delinsGG p.Q141G Missense 4/16 - 1
12-112891087-CAG-GAC c.421_423delinsGAC p.Q141D Missense 4/16 - 1
12-112891087-CA-GT c.421_422delinsGT p.Q141V Missense 4/16 - 1
12-112891087-CAG-TAT c.421_423delinsTAT p.Q141Y Missense 4/16 - 1
12-112891087-CAG-TGT c.421_423delinsTGT p.Q141C Missense 4/16 - 1
12-112891087-CAG-TTT c.421_423delinsTTT p.Q141F Missense 4/16 - 1
12-112891087-CA-TC c.421_422delinsTC p.Q141S Missense 4/16 - 1
12-112891087-CA-TG c.421_422inv p.Q141W Missense 4/16 - 1
12-112891087-C-G c.421C>G p.Q141E Missense 4/16 - 1
12-112891088-A-C c.422A>C p.Q141P Missense 4/16 - 1
12-112891088-A-G c.422A>G p.Q141R Missense 4/16 - 2
12-112891088-A-T c.422A>T p.Q141L Missense 4/16 - 1
12-112891089-G-C c.423G>C p.Q141H Missense 4/16 - 1
12-112891089-G-T c.423G>T p.Q141H Missense 4/16 - 1
12-112891089-G-GA c.424dup p.S142Kfs*14 Frameshift 4/16 - 1
12-112891090-A-G c.424A>G p.S142G Missense 4/16 - 2
12-112891090-AG-CA c.424_425delinsCA p.S142H Missense 4/16 - 1
12-112891090-AG-CC c.424_425delinsCC p.S142P Missense 4/16 - 2
12-112891090-AGC-CAA c.424_426delinsCAA p.S142Q Missense 4/16 - 1
12-112891090-AGC-GAG c.424_426delinsGAG p.S142E Missense 4/16 - 1
12-112891090-AG-CT c.424_425inv p.S142L Missense 4/16 - 1
12-112891090-AGC-TGA c.424_426delinsTGA p.S142* Nonsense 4/16 - 1
12-112891090-AGC-TGG c.424_426delinsTGG p.S142W Missense 4/16 - 1
12-112891090-AG-GA c.424_425delinsGA p.S142D Missense 4/16 - 1
12-112891090-AG-GC c.424_425delinsGC p.S142A Missense 4/16 - 1
12-112891090-AG-GT c.424_425delinsGT p.S142V Missense 4/16 - 1
12-112891090-AG-TA c.424_425delinsTA p.S142Y Missense 4/16 - 1
12-112891090-AG-TT c.424_425delinsTT p.S142F Missense 4/16 - 1
12-112891090-A-T c.424A>T p.S142C Missense 4/16 - 1
12-112891091-G-A c.425G>A p.S142N Missense 4/16 - 3
12-112891091-G-C c.425G>C p.S142T Missense 4/16 - 1
12-112891091-GC-AG c.425_426delinsAG p.S142K Missense 4/16 - 1
12-112891091-GC-TG c.425_426delinsTG p.S142M Missense 4/16 - 1
12-112891091-G-T c.425G>T p.S142I Missense 4/16 - 1
12-112891090-A-C c.424A>C p.S142R Missense 4/16 - 1
12-112891092-C-A c.426C>A p.S142R Missense 4/16 - 1
12-112891092-C-G c.426C>G p.S142R Missense 4/16 - 1
12-112891093-C-A c.427C>A p.H143N Missense 4/16 - 1
12-112891093-CA-AC c.427_428delinsAC p.H143T Missense 4/16 - 1
12-112891093-CA-AG c.427_428delinsAG p.H143S Missense 4/16 - 1
12-112891093-CA-AT c.427_428delinsAT p.H143I Missense 4/16 - 1
12-112891093-CAC-AAG c.427_429delinsAAG p.H143K Missense 4/16 - 1
12-112891093-CAC-ATG c.427_429delinsATG p.H143M Missense 4/16 - 1
12-112891093-CAC-GAG c.427_429delinsGAG p.H143E Missense 4/16 - 1
12-112891093-CAC-TGG c.427_429delinsTGG p.H143W Missense 4/16 - 1
12-112891093-CA-GC c.427_428delinsGC p.H143A Missense 4/16 - 2
12-112891093-CA-GG c.427_428delinsGG p.H143G Missense 4/16 - 1
12-112891093-CA-GT c.427_428delinsGT p.H143V Missense 4/16 - 1
12-112891093-CA-TG c.427_428inv p.H143C Missense 4/16 - 1
12-112891093-CA-TT c.427_428delinsTT p.H143F Missense 4/16 - 1
12-112891093-C-G c.427C>G p.H143D Missense 4/16 - 1
12-112891093-C-T c.427C>T p.H143Y Missense 4/16 - 3
12-112891094-A-C c.428A>C p.H143P Missense 4/16 - 1
12-112891094-A-G c.428A>G p.H143R Missense 4/16 - 2
12-112891094-A-T c.428A>T p.H143L Missense 4/16 - 1
12-112891095-C-A c.429C>A p.H143Q Missense 4/16 - 2
12-112891095-C-G c.429C>G p.H143Q Missense 4/16 - 1
12-112891096-C-A c.430C>A p.P144T Missense 4/16 - 1
12-112891096-CC-AA c.430_431delinsAA p.P144N Missense 4/16 - 1
12-112891096-CC-AT c.430_431delinsAT p.P144I Missense 4/16 - 1
12-112891096-CC-GA c.430_431delinsGA p.P144D Missense 4/16 - 1
12-112891096-CC-GG c.430_431inv p.P144G Missense 4/16 - 1
12-112891096-CC-GT c.430_431delinsGT p.P144V Missense 4/16 - 1
12-112891096-CC-TA c.430_431delinsTA p.P144Y Missense 4/16 - 1
12-112891096-CCT-AAG c.430_432delinsAAG p.P144K Missense 4/16 - 1
12-112891096-CCT-ATG c.430_432delinsATG p.P144M Missense 4/16 - 1
12-112891096-CC-TG c.430_431delinsTG p.P144C Missense 4/16 - 1
12-112891096-CCT-GAG c.430_432delinsGAG p.P144E Missense 4/16 - 1
12-112891096-CC-TT c.430_431delinsTT p.P144F Missense 4/16 - 1
12-112891096-CCT-TGG c.430_432delinsTGG p.P144W Missense 4/16 - 1
12-112891096-C-G c.430C>G p.P144A Missense 4/16 - 1
12-112891096-C-T c.430C>T p.P144S Missense 4/16 - 2
12-112891097-C-A c.431C>A p.P144H Missense 4/16 - 1
12-112891097-C-G c.431C>G p.P144R Missense 4/16 - 6
12-112891097-C-T c.431C>T p.P144L Missense 4/16 - 3
12-112891097-CT-AA c.431_432delinsAA p.P144Q Missense 4/16 - 1
12-112891099-G-A c.433G>A p.G145R Missense 4/16 - 1
12-112891099-G-C c.433G>C p.G145R Missense 4/16 - 1
12-112891099-GG-AA c.433_434delinsAA p.G145K Missense 4/16 - 1
12-112891099-GGA-AAC c.433_435delinsAAC p.G145N Missense 4/16 - 1
12-112891099-GGA-AGC c.433_435delinsAGC p.G145S Missense 4/16 - 1
12-112891099-GGA-ATG c.433_435delinsATG p.G145M Missense 4/16 - 1
12-112891099-GG-AC c.433_434delinsAC p.G145T Missense 4/16 - 1
12-112891099-GGA-CAT c.433_435delinsCAT p.G145H Missense 4/16 - 1
12-112891099-GG-AT c.433_434delinsAT p.G145I Missense 4/16 - 1
12-112891099-GGA-TAT c.433_435delinsTAT p.G145Y Missense 4/16 - 1
12-112891099-GGA-TGG c.433_435delinsTGG p.G145W Missense 4/16 - 1
12-112891099-GGA-TGT c.433_435delinsTGT p.G145C Missense 4/16 - 1
12-112891099-GGA-TTT c.433_435delinsTTT p.G145F Missense 4/16 - 1
12-112891099-GG-CA c.433_434delinsCA p.G145Q Missense 4/16 - 1
12-112891099-GG-CC c.433_434inv p.G145P Missense 4/16 - 1
12-112891099-GG-CT c.433_434delinsCT p.G145L Missense 4/16 - 1
12-112891100-G-A c.434G>A p.G145E Missense 4/16 - 2
12-112891100-GA-AC c.434_435delinsAC p.G145D Missense 4/16 - 1
12-112891100-G-C c.434G>C p.G145A Missense 4/16 - 1
12-112891100-G-T c.434G>T p.G145V Missense 4/16 - 2
12-112891102-G-A c.436G>A p.D146N Missense 4/16 - 1
12-112891102-GA-AC c.436_437delinsAC p.D146T Missense 4/16 - 1
12-112891102-GA-AG c.436_437delinsAG p.D146S Missense 4/16 - 4
12-112891102-GA-AT c.436_437delinsAT p.D146I Missense 4/16 - 1
12-112891102-GA-CC c.436_437delinsCC p.D146P Missense 4/16 - 2
12-112891102-GA-CG c.436_437delinsCG p.D146R Missense 4/16 - 2
12-112891102-GA-CT c.436_437delinsCT p.D146L Missense 4/16 - 2
12-112891102-GAT-AAG c.436_438delinsAAG p.D146K Missense 4/16 - 1
12-112891102-GAT-ATG c.436_438delinsATG p.D146M Missense 4/16 - 1
12-112891102-GAT-CAA c.436_438delinsCAA p.D146Q Missense 4/16 - 1
12-112891102-GA-TG c.436_437delinsTG p.D146C Missense 4/16 - 1
12-112891102-GA-TT c.436_437delinsTT p.D146F Missense 4/16 - 1
12-112891102-GAT-TGG c.436_438delinsTGG p.D146W Missense 4/16 - 1
12-112891102-G-C c.436G>C p.D146H Missense 4/16 - 2
12-112891102-G-T c.436G>T p.D146Y Missense 4/16 - 12
12-112891103-A-C c.437A>C p.D146A Missense 4/16 - 6
12-112891103-A-G c.437A>G p.D146G Missense 4/16 - 2
12-112891103-A-T c.437A>T p.D146V Missense 4/16 - 1
12-112891104-T-A c.438T>A p.D146E Missense 4/16 - 1
12-112891104-T-G c.438T>G p.D146E Missense 4/16 - 1
12-112891105-T-A c.439T>A p.F147I Missense 4/16 - 1
12-112891105-T-C c.439T>C p.F147L Missense 4/16 - 1
12-112891105-T-G c.439T>G p.F147V Missense 4/16 - 1
12-112891105-TT-AA c.439_440inv p.F147N Missense 4/16 - 1
12-112891105-TT-AC c.439_440delinsAC p.F147T Missense 4/16 - 1
12-112891105-TT-CA c.439_440delinsCA p.F147H Missense 4/16 - 1
12-112891105-TT-CC c.439_440delinsCC p.F147P Missense 4/16 - 1
12-112891105-TT-CG c.439_440delinsCG p.F147R Missense 4/16 - 1
12-112891105-TT-GA c.439_440delinsGA p.F147D Missense 4/16 - 1
12-112891105-TT-GC c.439_440delinsGC p.F147A Missense 4/16 - 1
12-112891105-TT-GG c.439_440delinsGG p.F147G Missense 4/16 - 1
12-112891105-TTT-AAG c.439_441delinsAAG p.F147K Missense 4/16 - 1
12-112891105-TTT-ATG c.439_441delinsATG p.F147M Missense 4/16 - 1
12-112891105-TTT-CAA c.439_441delinsCAA p.F147Q Missense 4/16 - 1
12-112891105-TTT-GAG c.439_441delinsGAG p.F147E Missense 4/16 - 1
12-112891107-T-A c.441T>A p.F147L Missense 4/16 - 1
12-112891107-T-G c.441T>G p.F147L Missense 4/16 - 1
12-112891106-T-A c.440T>A p.F147Y Missense 4/16 - 1
12-112891106-T-C c.440T>C p.F147S Missense 4/16 - 1
12-112891106-T-G c.440T>G p.F147C Missense 4/16 - 1
12-112891106-TT-GG c.440_441delinsGG p.F147W Missense 4/16 - 1
12-112891108-G-A c.442G>A p.V148I Missense 4/16 - 1
12-112891108-G-C c.442G>C p.V148L Missense 4/16 - 1
12-112891108-G-T c.442G>T p.V148F Missense 4/16 - 1
12-112891108-GT-AA c.442_443delinsAA p.V148N Missense 4/16 - 1
12-112891108-GT-AC c.442_443inv p.V148T Missense 4/16 - 1
12-112891108-GT-AG c.442_443delinsAG p.V148S Missense 4/16 - 1
12-112891108-GT-CA c.442_443delinsCA p.V148H Missense 4/16 - 1
12-112891108-GT-CC c.442_443delinsCC p.V148P Missense 4/16 - 1
12-112891108-GT-CG c.442_443delinsCG p.V148R Missense 4/16 - 1
12-112891108-GT-TA c.442_443delinsTA p.V148Y Missense 4/16 - 1
12-112891108-GTT-AAG c.442_444delinsAAG p.V148K Missense 4/16 - 1
12-112891108-GTT-ATG c.442_444delinsATG p.V148M Missense 4/16 - 1
12-112891108-GTT-CAA c.442_444delinsCAA p.V148Q Missense 4/16 - 1
12-112891108-GT-TG c.442_443delinsTG p.V148C Missense 4/16 - 1
12-112891108-GTT-TGG c.442_444delinsTGG p.V148W Missense 4/16 - 1
12-112891109-T-A c.443T>A p.V148D Missense 4/16 - 1
12-112891109-T-C c.443T>C p.V148A Missense 4/16 - 2
12-112891109-T-G c.443T>G p.V148G Missense 4/16 - 2
12-112891109-TT-AG c.443_444delinsAG p.V148E Missense 4/16 - 1
12-112891111-C-A c.445C>A p.L149I Missense 4/16 - 1
12-112891111-C-G c.445C>G p.L149V Missense 4/16 - 1
12-112891111-C-T c.445C>T p.L149F Missense 4/16 - 1
12-112891111-CT-AA c.445_446delinsAA p.L149N Missense 4/16 - 1
12-112891111-CT-AC c.445_446delinsAC p.L149T Missense 4/16 - 1
12-112891111-CT-AG c.445_446inv p.L149S Missense 4/16 - 1
12-112891111-CT-GA c.445_446delinsGA p.L149D Missense 4/16 - 1
12-112891111-CT-GC c.445_446delinsGC p.L149A Missense 4/16 - 3
12-112891111-CT-GG c.445_446delinsGG p.L149G Missense 4/16 - 1
12-112891111-CT-TA c.445_446delinsTA p.L149Y Missense 4/16 - 1
12-112891111-CTT-AAG c.445_447inv p.L149K Missense 4/16 - 1
12-112891111-CTT-ATG c.445_447delinsATG p.L149M Missense 4/16 - 1
12-112891111-CT-TG c.445_446delinsTG p.L149C Missense 4/16 - 1
12-112891111-CTT-GAG c.445_447delinsGAG p.L149E Missense 4/16 - 1
12-112891111-CTT-TGG c.445_447delinsTGG p.L149W Missense 4/16 - 1
12-112891112-T-A c.446T>A p.L149H Missense 4/16 - 2
12-112891112-T-C c.446T>C p.L149P Missense 4/16 - 1
12-112891112-T-G c.446T>G p.L149R Missense 4/16 - 1
12-112891112-TT-AA c.446_447inv p.L149Q Missense 4/16 - 1
12-112891113-T-A c.447T>A p.L149= Synonymous 4/16 - 1
12-112891113-T-C c.447T>C p.L149= Synonymous 4/16 - 1
12-112891113-T-G c.447T>G p.L149= Synonymous 4/16 - 1
12-112891114-T-A c.448T>A p.S150T Missense 4/16 - 1
12-112891114-T-C c.448T>C p.S150P Missense 4/16 - 1
12-112891114-TC-AA c.448_449delinsAA p.S150N Missense 4/16 - 2
12-112891114-TC-AT c.448_449delinsAT p.S150I Missense 4/16 - 4
12-112891114-TC-CA c.448_449delinsCA p.S150H Missense 4/16 - 1
12-112891114-TC-CG c.448_449delinsCG p.S150R Missense 4/16 - 1
12-112891114-TC-CT c.448_449delinsCT p.S150L Missense 4/16 - 1
12-112891114-TC-GA c.448_449inv p.S150D Missense 4/16 - 1
12-112891114-TC-GG c.448_449delinsGG p.S150G Missense 4/16 - 1
12-112891114-TC-GT c.448_449delinsGT p.S150V Missense 4/16 - 1
12-112891114-TCT-AAG c.448_450delinsAAG p.S150K Missense 4/16 - 1
12-112891114-TCT-ATG c.448_450delinsATG p.S150M Missense 4/16 - 1
12-112891114-TCT-CAA c.448_450delinsCAA p.S150Q Missense 4/16 - 1
12-112891114-TCT-GAG c.448_450delinsGAG p.S150E Missense 4/16 - 1
12-112891114-T-G c.448T>G p.S150A Missense 4/16 - 2
12-112891115-C-A c.449C>A p.S150Y Missense 4/16 - 1
12-112891115-C-G c.449C>G p.S150C Missense 4/16 - 1
12-112891115-C-T c.449C>T p.S150F Missense 4/16 - 2
12-112891115-CT-GG c.449_450delinsGG p.S150W Missense 4/16 - 1
12-112891115-TC-T c.449del p.S150Lfs*18 Frameshift 4/16 - 1
12-112891116-T-C c.450T>C p.S150= Synonymous 4/16 - 2
12-112891117-G-A c.451G>A p.V151M Missense 4/16 - 3
12-112891117-G-C c.451G>C p.V151L Missense 4/16 - 2
12-112891117-G-T c.451G>T p.V151L Missense 4/16 - 2
12-112891117-GT-AA c.451_452delinsAA p.V151K Missense 4/16 - 1
12-112891117-GT-AC c.451_452inv p.V151T Missense 4/16 - 1
12-112891117-GT-AG c.451_452delinsAG p.V151R Missense 4/16 - 1
12-112891117-GT-CA c.451_452delinsCA p.V151Q Missense 4/16 - 1
12-112891117-GT-CC c.451_452delinsCC p.V151P Missense 4/16 - 1
12-112891117-GTG-AAC c.451_453delinsAAC p.V151N Missense 4/16 - 1
12-112891117-GTG-ATC c.451_453delinsATC p.V151I Missense 4/16 - 1
12-112891117-GTG-CAT c.451_453delinsCAT p.V151H Missense 4/16 - 1
12-112891117-GTG-TAT c.451_453delinsTAT p.V151Y Missense 4/16 - 1
12-112891117-GTG-TGT c.451_453delinsTGT p.V151C Missense 4/16 - 1
12-112891117-GTG-TTT c.451_453delinsTTT p.V151F Missense 4/16 - 1
12-112891117-GT-TC c.451_452delinsTC p.V151S Missense 4/16 - 1
12-112891117-GT-TG c.451_452delinsTG p.V151W Missense 4/16 - 1
12-112891118-T-A c.452T>A p.V151E Missense 4/16 - 1
12-112891118-T-C c.452T>C p.V151A Missense 4/16 - 1
12-112891118-T-G c.452T>G p.V151G Missense 4/16 - 1
12-112891118-TG-AC c.452_453delinsAC p.V151D Missense 4/16 - 1
12-112891120-C-A c.454C>A p.R152S Missense 4/16 - 1
12-112891120-C-G c.454C>G p.R152G Missense 4/16 - 1
12-112891120-CG-AA c.454_455delinsAA p.R152N Missense 4/16 - 1
12-112891120-CG-AC c.454_455delinsAC p.R152T Missense 4/16 - 1
12-112891120-CG-AT c.454_455delinsAT p.R152I Missense 4/16 - 1
12-112891120-CGC-AAG c.454_456delinsAAG p.R152K Missense 4/16 - 10
12-112891120-CGC-ATG c.454_456delinsATG p.R152M Missense 4/16 - 1
12-112891120-CGC-GAG c.454_456delinsGAG p.R152E Missense 4/16 - 2
12-112891120-CGC-TGG c.454_456delinsTGG p.R152W Missense 4/16 - 1
12-112891120-CG-GA c.454_455delinsGA p.R152D Missense 4/16 - 1
12-112891120-CG-GC c.454_455delinsGC p.R152A Missense 4/16 - 3
12-112891120-CG-GT c.454_455delinsGT p.R152V Missense 4/16 - 1
12-112891120-CG-TA c.454_455delinsTA p.R152Y Missense 4/16 - 1
12-112891120-CG-TT c.454_455delinsTT p.R152F Missense 4/16 - 1
12-112891120-C-T c.454C>T p.R152C Missense 4/16 - 1
12-112891121-G-A c.455G>A p.R152H Missense 4/16 - 14
12-112891121-G-C c.455G>C p.R152P Missense 4/16 - 2
12-112891121-GC-AA c.455_456delinsAA p.R152Q Missense 4/16 - 1
12-112891121-G-T c.455G>T p.R152L Missense 4/16 - 3
12-112891123-A-C c.457A>C p.T153P Missense 4/16 - 1
12-112891123-AC-CA c.457_458delinsCA p.T153H Missense 4/16 - 1
12-112891123-AC-CT c.457_458delinsCT p.T153L Missense 4/16 - 1
12-112891123-AC-GA c.457_458delinsGA p.T153D Missense 4/16 - 1
12-112891123-AC-GG c.457_458delinsGG p.T153G Missense 4/16 - 1
12-112891123-AC-GT c.457_458inv p.T153V Missense 4/16 - 1
12-112891123-AC-TA c.457_458delinsTA p.T153Y Missense 4/16 - 1
12-112891123-ACT-CAA c.457_459delinsCAA p.T153Q Missense 4/16 - 1
12-112891123-AC-TG c.457_458delinsTG p.T153C Missense 4/16 - 1
12-112891123-ACT-GAG c.457_459delinsGAG p.T153E Missense 4/16 - 1
12-112891123-AC-TT c.457_458delinsTT p.T153F Missense 4/16 - 1
12-112891123-ACT-TGG c.457_459delinsTGG p.T153W Missense 4/16 - 1
12-112891123-A-G c.457A>G p.T153A Missense 4/16 - 2
12-112891123-A-T c.457A>T p.T153S Missense 4/16 - 2
12-112891124-C-A c.458C>A p.T153N Missense 4/16 - 2
12-112891124-C-G c.458C>G p.T153S Missense 4/16 - 2
12-112891124-C-T c.458C>T p.T153I Missense 4/16 - 4
12-112891124-CT-AG c.458_459inv p.T153K Missense 4/16 - 1
12-112891124-CT-GG c.458_459delinsGG p.T153R Missense 4/16 - 1
12-112891124-CTGGTG-AAGAACACAGGGGAGAGCA c.458_463delinsAAGAACACAGGGGAGAGCA p.T153Kfs*8 Frameshift 4/16 - 2
12-112891124-CT-TG c.458_459delinsTG p.T153M Missense 4/16 - 1
12-112891125-T-A c.459T>A p.T153= Synonymous 4/16 - 1
12-112891125-T-C c.459T>C p.T153= Synonymous 4/16 - 1
12-112891125-T-G c.459T>G p.T153= Synonymous 4/16 - 1
12-112891126-G-A c.460G>A p.G154S Missense 4/16 - 3
12-112891126-G-C c.460G>C p.G154R Missense 4/16 - 1
12-112891126-GG-AA c.460_461delinsAA p.G154N Missense 4/16 - 1
12-112891126-GG-AC c.460_461delinsAC p.G154T Missense 4/16 - 1
12-112891126-GG-AT c.460_461delinsAT p.G154I Missense 4/16 - 1
12-112891126-GG-CA c.460_461delinsCA p.G154H Missense 4/16 - 1
12-112891126-GG-CC c.460_461inv p.G154P Missense 4/16 - 1
12-112891126-GG-CT c.460_461delinsCT p.G154L Missense 4/16 - 1
12-112891126-GG-TA c.460_461delinsTA p.G154Y Missense 4/16 - 1
12-112891126-GGT-AAG c.460_462delinsAAG p.G154K Missense 4/16 - 1
12-112891126-GGT-ATG c.460_462delinsATG p.G154M Missense 4/16 - 1
12-112891126-GGT-CAA c.460_462delinsCAA p.G154Q Missense 4/16 - 1
12-112891126-GG-TT c.460_461delinsTT p.G154F Missense 4/16 - 1
12-112891126-GGT-TGG c.460_462delinsTGG p.G154W Missense 4/16 - 1
12-112891126-G-T c.460G>T p.G154C Missense 4/16 - 1
12-112891127-G-A c.461G>A p.G154D Missense 4/16 - 5
12-112891127-G-C c.461G>C p.G154A Missense 4/16 - 3
12-112891127-G-T c.461G>T p.G154V Missense 4/16 - 1
12-112891127-GT-AG c.461_462delinsAG p.G154E Missense 4/16 - 1
12-112891129-G-A c.463G>A p.D155N Missense 4/16 - 8
12-112891129-GA-AC c.463_464delinsAC p.D155T Missense 4/16 - 1
12-112891129-GA-AG c.463_464delinsAG p.D155S Missense 4/16 - 2
12-112891129-GA-AT c.463_464delinsAT p.D155I Missense 4/16 - 1
12-112891129-GA-CC c.463_464delinsCC p.D155P Missense 4/16 - 1
12-112891129-GA-CG c.463_464delinsCG p.D155R Missense 4/16 - 2
12-112891129-GA-CT c.463_464delinsCT p.D155L Missense 4/16 - 1
12-112891129-GAT-AAG c.463_465delinsAAG p.D155K Missense 4/16 - 1
12-112891129-GAT-ATG c.463_465delinsATG p.D155M Missense 4/16 - 1
12-112891129-GAT-CAA c.463_465delinsCAA p.D155Q Missense 4/16 - 1
12-112891129-GA-TG c.463_464delinsTG p.D155C Missense 4/16 - 1
12-112891129-GA-TT c.463_464delinsTT p.D155F Missense 4/16 - 1
12-112891129-GAT-TGG c.463_465delinsTGG p.D155W Missense 4/16 - 1
12-112891129-G-C c.463G>C p.D155H Missense 4/16 - 1
12-112891129-G-T c.463G>T p.D155Y Missense 4/16 - 7
12-112891130-A-C c.464A>C p.D155A Missense 4/16 - 3
12-112891130-A-G c.464A>G p.D155G Missense 4/16 - 3
12-112891130-A-T c.464A>T p.D155V Missense 4/16 - 1
12-112891131-T-A c.465T>A p.D155E Missense 4/16 - 1
12-112891131-T-G c.465T>G p.D155E Missense 4/16 - 1
12-112891132-G-A c.466G>A p.D156N Missense 4/16 - 6
12-112891133-A-G c.467A>G p.D156G Missense 4/16 - 1
12-112891133-A-T c.467A>T p.D156V Missense 4/16 - 3
12-112891134-C-A c.468C>A p.D156E Missense 4/16 - 2
12-112891134-C-G c.468C>G p.D156E Missense 4/16 - 2
12-112891135-A-C c.469A>C p.K157Q Missense 4/16 - 1
12-112891136-A-G c.470A>G p.K157R Missense 4/16 - 1
12-112891138-G-A c.472G>A p.G158R Missense 4/16 - 1
12-112891138-GGG-AGC c.472_474delinsAGC p.G158S Missense 4/16 - 1
12-112891139-G-A c.473G>A p.G158E Missense 4/16 - 1
12-112891139-G-C c.473G>C p.G158A Missense 4/16 - 1
12-112891141-G-T c.475G>T p.E159* Nonsense 4/16 - 1
12-112891142-A-G c.476A>G p.E159G Missense 4/16 - 1
12-112891142-A-T c.476A>T p.E159V Missense 4/16 - 1
12-112891143-G-A c.477G>A p.E159= Synonymous 4/16 - 1
12-112891144-A-G c.478A>G p.S160G Missense 4/16 - 1
12-112891144-AG-CA c.478_479delinsCA p.S160H Missense 4/16 - 1
12-112891144-AG-GC c.478_479delinsGC p.S160A Missense 4/16 - 2
12-112891145-G-A c.479G>A p.S160N Missense 4/16 - 1
12-112891145-G-C c.479G>C p.S160T Missense 4/16 - 1
12-112891147-A-G c.481A>G p.N161D Missense 4/16 - 2
12-112891146-C-CA c.482dup p.N161Kfs*2 Frameshift 4/16 - 1
12-112891148-A-C c.482A>C p.N161T Missense 4/16 - 1
12-112891148-A-AT c.483dup p.D162* Nonsense 4/16 - 1
12-112891150-G-A c.484G>A p.D162N Missense 4/16 - 1
12-112891150-G-T c.484G>T p.D162Y Missense 4/16 - 1
12-112891152-C-T c.486C>T p.D162= Synonymous 4/16 - 2
12-112891153-G-A c.487G>A p.G163S Missense 4/16 - 2
12-112891153-G-C c.487G>C p.G163R Missense 4/16 - 1
12-112891153-G-T c.487G>T p.G163C Missense 4/16 - 1
12-112891154-G-A c.488G>A p.G163D Missense 4/16 - 2
12-112891154-G-C c.488G>C p.G163A Missense 4/16 - 1
12-112891155-C-A c.489C>A p.G163= Synonymous 4/16 - 1
12-112891155-C-G c.489C>G p.G163= Synonymous 4/16 - 1
12-112891155-C-T c.489C>T p.G163= Synonymous 4/16 - 1
12-112891156-AA-GC c.490_491delinsGC p.K164A Missense 4/16 - 3
12-112891156-A-G c.490A>G p.K164E Missense 4/16 - 1
12-112891157-A-G c.491A>G p.K164R Missense 4/16 - 1
12-112891159-T-C c.493T>C p.S165P Missense 4/16 - 1
12-112891159-TC-AA c.493_494delinsAA p.S165N Missense 4/16 - 1
12-112891159-TC-GA c.493_494inv p.S165D Missense 4/16 - 1
12-112891159-TC-GG c.493_494delinsGG p.S165G Missense 4/16 - 1
12-112891159-T-G c.493T>G p.S165A Missense 4/16 - 1
12-112891161-T-A c.495T>A p.S165= Synonymous 4/16 - 1
12-112891161-T-C c.495T>C p.S165= Synonymous 4/16 - 2
12-112891161-T-G c.495T>G p.S165= Synonymous 4/16 - 1
12-112891162-AAA-CAT c.496_498delinsCAT p.K166H Missense 4/16 - 1
12-112891162-AAA-GAC c.496_498delinsGAC p.K166D Missense 4/16 - 1
12-112891162-AAA-TAT c.496_498delinsTAT p.K166Y Missense 4/16 - 1
12-112891162-AAA-TGG c.496_498delinsTGG p.K166W Missense 4/16 - 1
12-112891162-AAA-TGT c.496_498delinsTGT p.K166C Missense 4/16 - 1
12-112891162-AAA-TTT c.496_498inv p.K166F Missense 4/16 - 1
12-112891162-AA-CC c.496_497delinsCC p.K166P Missense 4/16 - 1
12-112891162-AA-CT c.496_497delinsCT p.K166L Missense 4/16 - 1
12-112891162-AA-GC c.496_497delinsGC p.K166A Missense 4/16 - 1
12-112891162-AA-GG c.496_497delinsGG p.K166G Missense 4/16 - 1
12-112891162-AA-GT c.496_497delinsGT p.K166V Missense 4/16 - 1
12-112891162-A-C c.496A>C p.K166Q Missense 4/16 - 1
12-112891162-A-G c.496A>G p.K166E Missense 4/16 - 2
12-112891163-AA-GC c.497_498delinsGC p.K166S Missense 4/16 - 1
12-112891163-AA-TG c.497_498delinsTG p.K166M Missense 4/16 - 3
12-112891163-A-C c.497A>C p.K166T Missense 4/16 - 1
12-112891163-A-G c.497A>G p.K166R Missense 4/16 - 2
12-112891163-A-T c.497A>T p.K166I Missense 4/16 - 1
12-112891161-TA-T c.498del p.V167* Frameshift 4/16 - 1
12-112891164-A-ACC c.498_499insCC p.V167Pfs*2 Frameshift 4/16 - 1
12-112891164-A-C c.498A>C p.K166N Missense 4/16 - 1
12-112891164-A-T c.498A>T p.K166N Missense 4/16 - 1
12-112891165-G-A c.499G>A p.V167M Missense 4/16 - 1
12-112891165-G-C c.499G>C p.V167L Missense 4/16 - 1
12-112891165-G-T c.499G>T p.V167L Missense 4/16 - 1
12-112891165-GT-AA c.499_500delinsAA p.V167K Missense 4/16 - 1
12-112891165-GT-AC c.499_500inv p.V167T Missense 4/16 - 1
12-112891165-GT-AG c.499_500delinsAG p.V167R Missense 4/16 - 1
12-112891165-GT-CA c.499_500delinsCA p.V167Q Missense 4/16 - 1
12-112891165-GT-CC c.499_500delinsCC p.V167P Missense 4/16 - 1
12-112891165-GTG-AAC c.499_501delinsAAC p.V167N Missense 4/16 - 1
12-112891165-GTG-ATC c.499_501delinsATC p.V167I Missense 4/16 - 3
12-112891165-GTG-CAT c.499_501delinsCAT p.V167H Missense 4/16 - 1
12-112891165-GTG-TAT c.499_501delinsTAT p.V167Y Missense 4/16 - 1
12-112891165-GTG-TGT c.499_501delinsTGT p.V167C Missense 4/16 - 1
12-112891165-GTG-TTT c.499_501delinsTTT p.V167F Missense 4/16 - 1
12-112891165-GT-TC c.499_500delinsTC p.V167S Missense 4/16 - 1
12-112891165-GT-TG c.499_500delinsTG p.V167W Missense 4/16 - 1
12-112891166-T-A c.500T>A p.V167E Missense 4/16 - 1
12-112891166-T-C c.500T>C p.V167A Missense 4/16 - 4
12-112891166-T-G c.500T>G p.V167G Missense 4/16 - 1
12-112891166-TG-AC c.500_501delinsAC p.V167D Missense 4/16 - 1
12-112891168-A-C c.502A>C p.T168P Missense 4/16 - 1
12-112891168-AC-CA c.502_503delinsCA p.T168H Missense 4/16 - 1
12-112891168-ACC-CAA c.502_504delinsCAA p.T168Q Missense 4/16 - 1
12-112891168-ACC-GAG c.502_504delinsGAG p.T168E Missense 4/16 - 1
12-112891168-AC-CT c.502_503delinsCT p.T168L Missense 4/16 - 1
12-112891168-ACC-TGG c.502_504delinsTGG p.T168W Missense 4/16 - 1
12-112891168-AC-GA c.502_503delinsGA p.T168D Missense 4/16 - 1
12-112891168-AC-GG c.502_503delinsGG p.T168G Missense 4/16 - 1
12-112891168-AC-GT c.502_503inv p.T168V Missense 4/16 - 2
12-112891168-AC-TA c.502_503delinsTA p.T168Y Missense 4/16 - 1
12-112891168-AC-TG c.502_503delinsTG p.T168C Missense 4/16 - 1
12-112891168-AC-TT c.502_503delinsTT p.T168F Missense 4/16 - 1
12-112891168-A-G c.502A>G p.T168A Missense 4/16 - 1
12-112891168-A-T c.502A>T p.T168S Missense 4/16 - 2
12-112891169-C-A c.503C>A p.T168N Missense 4/16 - 1
12-112891169-CC-AG c.503_504delinsAG p.T168K Missense 4/16 - 1
12-112891169-CC-GG c.503_504inv p.T168R Missense 4/16 - 1
12-112891169-CC-TG c.503_504delinsTG p.T168M Missense 4/16 - 2
12-112891169-C-G c.503C>G p.T168S Missense 4/16 - 2
12-112891169-C-T c.503C>T p.T168I Missense 4/16 - 1
12-112891171-C-A c.505C>A p.H169N Missense 4/16 - 1
12-112891171-CA-AC c.505_506delinsAC p.H169T Missense 4/16 - 1
12-112891171-CA-AG c.505_506delinsAG p.H169S Missense 4/16 - 1
12-112891171-CA-AT c.505_506delinsAT p.H169I Missense 4/16 - 2
12-112891171-CA-GC c.505_506delinsGC p.H169A Missense 4/16 - 2
12-112891171-CA-GG c.505_506delinsGG p.H169G Missense 4/16 - 1
12-112891171-CA-GT c.505_506delinsGT p.H169V Missense 4/16 - 1
12-112891171-CAT-AAG c.505_507delinsAAG p.H169K Missense 4/16 - 1
12-112891171-CAT-ATG c.505_507inv p.H169M Missense 4/16 - 1
12-112891171-CA-TG c.505_506inv p.H169C Missense 4/16 - 1
12-112891171-CAT-GAG c.505_507delinsGAG p.H169E Missense 4/16 - 1
12-112891171-CA-TT c.505_506delinsTT p.H169F Missense 4/16 - 1
12-112891171-CAT-TGG c.505_507delinsTGG p.H169W Missense 4/16 - 1
12-112891171-C-G c.505C>G p.H169D Missense 4/16 - 1
12-112891171-C-T c.505C>T p.H169Y Missense 4/16 - 1
12-112891172-A-C c.506A>C p.H169P Missense 4/16 - 1
12-112891172-A-G c.506A>G p.H169R Missense 4/16 - 1
12-112891172-A-T c.506A>T p.H169L Missense 4/16 - 1
12-112891173-T-A c.507T>A p.H169Q Missense 4/16 - 1
12-112891173-T-G c.507T>G p.H169Q Missense 4/16 - 1
12-112891174-G-A c.508G>A p.V170I Missense 4/16 - 1
12-112891174-G-C c.508G>C p.V170L Missense 4/16 - 1
12-112891174-G-T c.508G>T p.V170F Missense 4/16 - 1
12-112891174-GT-AA c.508_509delinsAA p.V170N Missense 4/16 - 1
12-112891174-GT-AC c.508_509inv p.V170T Missense 4/16 - 1
12-112891174-GT-AG c.508_509delinsAG p.V170S Missense 4/16 - 1
12-112891174-GT-CA c.508_509delinsCA p.V170H Missense 4/16 - 1
12-112891174-GT-CC c.508_509delinsCC p.V170P Missense 4/16 - 1
12-112891174-GT-CG c.508_509delinsCG p.V170R Missense 4/16 - 1
12-112891174-GT-TA c.508_509delinsTA p.V170Y Missense 4/16 - 1
12-112891174-GTT-AAG c.508_510delinsAAG p.V170K Missense 4/16 - 1
12-112891174-GTT-ATG c.508_510delinsATG p.V170M Missense 4/16 - 2
12-112891174-GTT-CAA c.508_510delinsCAA p.V170Q Missense 4/16 - 1
12-112891174-GT-TG c.508_509delinsTG p.V170C Missense 4/16 - 1
12-112891174-GTT-TGG c.508_510delinsTGG p.V170W Missense 4/16 - 1
12-112891175-T-A c.509T>A p.V170D Missense 4/16 - 1
12-112891175-T-C c.509T>C p.V170A Missense 4/16 - 3
12-112891175-T-G c.509T>G p.V170G Missense 4/16 - 1
12-112891175-TT-AG c.509_510delinsAG p.V170E Missense 4/16 - 1
12-112891176-T-A c.510T>A p.V170= Synonymous 4/16 - 1
12-112891176-T-C c.510T>C p.V170= Synonymous 4/16 - 3
12-112891176-T-G c.510T>G p.V170= Synonymous 4/16 - 1
12-112891177-A-C c.511A>C p.M171L Missense 4/16 - 1
12-112891177-A-G c.511A>G p.M171V Missense 4/16 - 1
12-112891177-A-T c.511A>T p.M171L Missense 4/16 - 1
12-112891177-AT-CA c.511_512delinsCA p.M171Q Missense 4/16 - 1
12-112891177-AT-CC c.511_512delinsCC p.M171P Missense 4/16 - 1
12-112891177-AT-GA c.511_512delinsGA p.M171E Missense 4/16 - 1
12-112891177-AT-GC c.511_512delinsGC p.M171A Missense 4/16 - 1
12-112891177-ATG-CAT c.511_513inv p.M171H Missense 4/16 - 1
12-112891177-AT-GG c.511_512delinsGG p.M171G Missense 4/16 - 1
12-112891177-ATG-GAC c.511_513delinsGAC p.M171D Missense 4/16 - 1
12-112891177-ATG-TAT c.511_513delinsTAT p.M171Y Missense 4/16 - 1
12-112891177-ATG-TGT c.511_513delinsTGT p.M171C Missense 4/16 - 1
12-112891177-ATG-TTT c.511_513delinsTTT p.M171F Missense 4/16 - 1
12-112891177-AT-TG c.511_512delinsTG p.M171W Missense 4/16 - 1
12-112891178-T-A c.512T>A p.M171K Missense 4/16 - 1
12-112891178-T-C c.512T>C p.M171T Missense 4/16 - 1
12-112891178-T-G c.512T>G p.M171R Missense 4/16 - 1
12-112891178-TG-AC c.512_513delinsAC p.M171N Missense 4/16 - 1
12-112891178-TG-GC c.512_513delinsGC p.M171S Missense 4/16 - 1
12-112891179-G-A c.513G>A p.M171I Missense 4/16 - 1
12-112891179-G-C c.513G>C p.M171I Missense 4/16 - 1
12-112891179-G-T c.513G>T p.M171I Missense 4/16 - 1
12-112891180-A-C c.514A>C p.I172L Missense 4/16 - 1
12-112891180-A-G c.514A>G p.I172V Missense 4/16 - 2
12-112891180-A-T c.514A>T p.I172F Missense 4/16 - 1
12-112891180-AT-CA c.514_515delinsCA p.I172H Missense 4/16 - 1
12-112891180-AT-CC c.514_515delinsCC p.I172P Missense 4/16 - 1
12-112891180-AT-GA c.514_515delinsGA p.I172D Missense 4/16 - 1
12-112891180-AT-GC c.514_515delinsGC p.I172A Missense 4/16 - 1
12-112891180-AT-GG c.514_515delinsGG p.I172G Missense 4/16 - 1
12-112891180-AT-TA c.514_515delinsTA p.I172Y Missense 4/16 - 1
12-112891180-ATT-CAA c.514_516delinsCAA p.I172Q Missense 4/16 - 1
12-112891180-AT-TG c.514_515delinsTG p.I172C Missense 4/16 - 1
12-112891180-ATT-GAG c.514_516delinsGAG p.I172E Missense 4/16 - 1
12-112891180-ATT-TGG c.514_516delinsTGG p.I172W Missense 4/16 - 1
12-112891180-GATTCGCTGTCA-G c.514_524del p.I172Gfs*13 SpliceDonorDeletion 4/16 - 1
12-112891181-T-A c.515T>A p.I172N Missense 4/16 - 1
12-112891181-T-C c.515T>C p.I172T Missense 4/16 - 3
12-112891181-T-G c.515T>G p.I172S Missense 4/16 - 1
12-112891181-TT-AG c.515_516delinsAG p.I172K Missense 4/16 - 1
12-112891181-TT-GG c.515_516delinsGG p.I172R Missense 4/16 - 1
12-112891182-T-G c.516T>G p.I172M Missense 4/16 - 1
12-112891183-C-A c.517C>A p.R173S Missense 4/16 - 1
12-112891183-C-G c.517C>G p.R173G Missense 4/16 - 2
12-112891183-CG-AA c.517_518delinsAA p.R173N Missense 4/16 - 1
12-112891183-CG-AC c.517_518delinsAC p.R173T Missense 4/16 - 1
12-112891183-CG-AT c.517_518delinsAT p.R173I Missense 4/16 - 1
12-112891183-CGC-AAG c.517_519delinsAAG p.R173K Missense 4/16 - 1
12-112891183-CGC-ATG c.517_519delinsATG p.R173M Missense 4/16 - 1
12-112891183-CGC-GAG c.517_519delinsGAG p.R173E Missense 4/16 - 1
12-112891183-CGC-TGA c.517_519delinsTGA p.R173* Nonsense 4/16 - 1
12-112891183-CGC-TGG c.517_519delinsTGG p.R173W Missense 4/16 - 12
12-112891183-CG-GA c.517_518delinsGA p.R173D Missense 4/16 - 1
12-112891183-CG-GC c.517_518delinsGC p.R173A Missense 4/16 - 2
12-112891183-CG-GT c.517_518delinsGT p.R173V Missense 4/16 - 1
12-112891183-CG-TA c.517_518delinsTA p.R173Y Missense 4/16 - 1
12-112891183-CG-TT c.517_518delinsTT p.R173F Missense 4/16 - 1
12-112891183-C-T c.517C>T p.R173C Missense 4/16 - 4
12-112891184-G-A c.518G>A p.R173H Missense 4/16 - 8
12-112891184-G-C c.518G>C p.R173P Missense 4/16 - 6
12-112891184-GC-AA c.518_519delinsAA p.R173Q Missense 4/16 - 2
12-112891184-G-T c.518G>T p.R173L Missense 4/16 - 2
12-112891186-T-A c.520T>A p.C174S Missense 4/16 - 2
12-112891186-T-C c.520T>C p.C174R Missense 4/16 - 1
12-112891186-T-G c.520T>G p.C174G Missense 4/16 - 2
12-112891186-TG-AA c.520_521delinsAA p.C174N Missense 4/16 - 1
12-112891186-TG-AC c.520_521delinsAC p.C174T Missense 4/16 - 1
12-112891186-TG-AT c.520_521delinsAT p.C174I Missense 4/16 - 1
12-112891186-TG-CA c.520_521inv p.C174H Missense 4/16 - 1
12-112891186-TG-CC c.520_521delinsCC p.C174P Missense 4/16 - 1
12-112891186-TG-CT c.520_521delinsCT p.C174L Missense 4/16 - 1
12-112891186-TG-GA c.520_521delinsGA p.C174D Missense 4/16 - 1
12-112891186-TG-GC c.520_521delinsGC p.C174A Missense 4/16 - 1
12-112891186-TG-GT c.520_521delinsGT p.C174V Missense 4/16 - 1
12-112891186-TGT-AAG c.520_522delinsAAG p.C174K Missense 4/16 - 1
12-112891186-TGT-ATG c.520_522delinsATG p.C174M Missense 4/16 - 1
12-112891186-TGT-CAA c.520_522delinsCAA p.C174Q Missense 4/16 - 1
12-112891186-TGT-GAG c.520_522delinsGAG p.C174E Missense 4/16 - 1
12-112891187-G-C c.521G>C p.C174S Missense 4/16 - 2
12-112891187-G-A c.521G>A p.C174Y Missense 4/16 - 2
12-112891187-G-T c.521G>T p.C174F Missense