ITGA2B

ITGA2B integrin subunit alpha 2b

Annotation transcript: NM_000419.5

10953 unique variant annotations were identified in 666 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
17-42449681-G-A c.*51C>T - 3-UTRSNV 30/30 - 1
17-42449695-G-A c.*37C>T - 3-UTRSNV 30/30 - 1
17-42449737-C-T c.3115G>A p.E1039K Missense 30/30 - 5
17-42449739-C-A c.3113G>T p.G1038V Missense 30/30 - 1
17-42449740-C-G c.3112G>C p.G1038R Missense 30/30 - 1
17-42449740-C-T c.3112G>A p.G1038R Missense 30/30 - 5
17-42449741-C-A c.3111G>T p.E1037D Missense 30/30 - 1
17-42449741-C-G c.3111G>C p.E1037D Missense 30/30 - 2
17-42449743-C-A c.3109G>T p.E1037* Nonsense 30/30 - 2
17-42449743-C-T c.3109G>A p.E1037K Missense 30/30 - 7
17-42449746-C-G c.3106G>C p.E1036Q Missense 30/30 - 1
17-42449748-T-C c.3104A>G p.D1035G Missense 30/30 - 1
17-42449749-C-T c.3103G>A p.D1035N Missense 30/30 - 1
17-42449752-C-A c.3100G>T p.D1034Y Missense 30/30 - 1
17-42449758-C-G c.3094G>C p.E1032Q Missense 30/30 - 1
17-42449760-CA-C c.3092del p.L1031Rfs*? Frameshift 30/30 - 1
17-42449762-G-T c.3090C>A p.P1030= Synonymous 30/30 - 1
17-42449763-G-A c.3089C>T p.P1030L Missense 30/30 - 1
17-42449760-AG-A c.3091del p.L1031Wfs*? Frameshift 30/30 - 1
17-42449765-TG-AT c.3086_3087delinsAT p.P1029H Missense 30/30 - 1
17-42449765-TGG-AAA c.3085_3087delinsTTT p.P1029F Missense 30/30 - 1
17-42449765-TGG-ACA c.3085_3087delinsTGT p.P1029C Missense 30/30 - 1
17-42449765-TGG-ATA c.3085_3087delinsTAT p.P1029Y Missense 30/30 - 1
17-42449765-TGG-CAT c.3085_3087delinsATG p.P1029M Missense 30/30 - 1
17-42449765-TGG-CCA c.3085_3087inv p.P1029W Missense 30/30 - 1
17-42449765-TGG-GTC c.3085_3087delinsGAC p.P1029D Missense 30/30 - 1
17-42449765-TGG-GTT c.3085_3087delinsAAC p.P1029N Missense 30/30 - 1
17-42449766-G-A c.3086C>T p.P1029L Missense 30/30 - 1
17-42449766-G-C c.3086C>G p.P1029R Missense 30/30 - 1
17-42449766-GG-AC c.3085_3086delinsGT p.P1029V Missense 30/30 - 1
17-42449766-GG-AT c.3085_3086delinsAT p.P1029I Missense 30/30 - 1
17-42449766-GG-CC c.3085_3086inv p.P1029G Missense 30/30 - 1
17-42449766-GG-TC c.3085_3086delinsGA p.P1029E Missense 30/30 - 1
17-42449766-GG-TT c.3085_3086delinsAA p.P1029K Missense 30/30 - 1
17-42449766-G-T c.3086C>A p.P1029Q Missense 30/30 - 1
17-42449767-G-A c.3085C>T p.P1029S Missense 30/30 - 1
17-42449767-G-C c.3085C>G p.P1029A Missense 30/30 - 1
17-42449767-G-T c.3085C>A p.P1029T Missense 30/30 - 1
17-42449768-CC-AT c.3083_3084delinsAT p.R1028H Missense 30/30 - 1
17-42449768-CCG-AAA c.3082_3084delinsTTT p.R1028F Missense 30/30 - 1
17-42449768-CCG-ACA c.3082_3084delinsTGT p.R1028C Missense 30/30 - 1
17-42449768-CCG-ATA c.3082_3084delinsTAT p.R1028Y Missense 30/30 - 1
17-42449768-CCG-GAT c.3082_3084delinsATC p.R1028I Missense 30/30 - 1
17-42449768-CCG-GCT c.3082_3084delinsAGC p.R1028S Missense 30/30 - 1
17-42449768-CCG-GTC c.3082_3084delinsGAC p.R1028D Missense 30/30 - 1
17-42449768-CCG-GTT c.3082_3084delinsAAC p.R1028N Missense 30/30 - 1
17-42449768-C-T c.3084G>A p.R1028= Synonymous 30/30 - 3
17-42449769-C-A c.3083G>T p.R1028L Missense 30/30 - 1
17-42449769-C-G c.3083G>C p.R1028P Missense 30/30 - 1
17-42449769-CG-AC c.3082_3083delinsGT p.R1028V Missense 30/30 - 1
17-42449769-CG-AT c.3082_3083delinsAT p.R1028M Missense 30/30 - 1
17-42449769-CG-GC c.3082_3083delinsGC p.R1028A Missense 30/30 - 1
17-42449769-CG-GT c.3082_3083delinsAC p.R1028T Missense 30/30 - 1
17-42449769-CG-TC c.3082_3083delinsGA p.R1028E Missense 30/30 - 1
17-42449769-CG-TT c.3082_3083delinsAA p.R1028K Missense 30/30 - 1
17-42449769-C-T c.3083G>A p.R1028Q Missense 30/30 - 2
17-42449770-G-A c.3082C>T p.R1028W Missense 30/30 - 5
17-42449770-G-C c.3082C>G p.R1028G Missense 30/30 - 1
17-42449771-G-C c.3081C>G p.N1027K Missense 30/30 - 1
17-42449771-G-T c.3081C>A p.N1027K Missense 30/30 - 1
17-42449771-GT-CA c.3080_3081delinsTG p.N1027M Missense 30/30 - 1
17-42449771-GT-CC c.3080_3081delinsGG p.N1027R Missense 30/30 - 1
17-42449771-GTT-CCA c.3079_3081delinsTGG p.N1027W Missense 30/30 - 1
17-42449771-GTT-CTC c.3079_3081delinsGAG p.N1027E Missense 30/30 - 1
17-42449771-GTT-TTG c.3079_3081delinsCAA p.N1027Q Missense 30/30 - 1
17-42449772-T-A c.3080A>T p.N1027I Missense 30/30 - 1
17-42449772-T-C c.3080A>G p.N1027S Missense 30/30 - 1
17-42449772-T-G c.3080A>C p.N1027T Missense 30/30 - 1
17-42449772-TT-AA c.3079_3080inv p.N1027F Missense 30/30 - 1
17-42449772-TT-AC c.3079_3080delinsGT p.N1027V Missense 30/30 - 1
17-42449772-TT-AG c.3079_3080delinsCT p.N1027L Missense 30/30 - 1
17-42449772-TT-CA c.3079_3080delinsTG p.N1027C Missense 30/30 - 1
17-42449772-TT-CC c.3079_3080delinsGG p.N1027G Missense 30/30 - 1
17-42449772-TT-GC c.3079_3080delinsGC p.N1027A Missense 30/30 - 1
17-42449772-TT-GG c.3079_3080delinsCC p.N1027P Missense 30/30 - 1
17-42449773-T-A c.3079A>T p.N1027Y Missense 30/30 - 1
17-42449773-T-C c.3079A>G p.N1027D Missense 30/30 - 1
17-42449773-T-G c.3079A>C p.N1027H Missense 30/30 - 1
17-42449774-CC-AT c.3077_3078delinsAT p.R1026H Missense 30/30 - 1
17-42449774-CCG-AAA c.3076_3078delinsTTT p.R1026F Missense 30/30 - 1
17-42449774-CCG-ACA c.3076_3078delinsTGT p.R1026C Missense 30/30 - 1
17-42449774-CCG-ATA c.3076_3078delinsTAT p.R1026Y Missense 30/30 - 1
17-42449774-CCG-GAT c.3076_3078delinsATC p.R1026I Missense 30/30 - 1
17-42449774-CCG-GCT c.3076_3078delinsAGC p.R1026S Missense 30/30 - 1
17-42449774-CCG-GTC c.3076_3078delinsGAC p.R1026D Missense 30/30 - 1
17-42449774-CCG-GTT c.3076_3078delinsAAC p.R1026N Missense 30/30 - 1
17-42449774-C-T c.3078G>A p.R1026= Synonymous 30/30 - 4
17-42449775-C-A c.3077G>T p.R1026L Missense 30/30 - 1
17-42449775-C-G c.3077G>C p.R1026P Missense 30/30 - 1
17-42449775-CG-AC c.3076_3077delinsGT p.R1026V Missense 30/30 - 1
17-42449775-CG-AT c.3076_3077delinsAT p.R1026M Missense 30/30 - 1
17-42449775-CG-GC c.3076_3077delinsGC p.R1026A Missense 30/30 - 1
17-42449775-CG-GT c.3076_3077delinsAC p.R1026T Missense 30/30 - 1
17-42449775-CG-TC c.3076_3077delinsGA p.R1026E Missense 30/30 - 1
17-42449775-CG-TT c.3076_3077delinsAA p.R1026K Missense 30/30 - 1
17-42449775-C-T c.3077G>A p.R1026Q Missense 30/30 - 7
17-42449774-C-A c.3078G>T p.R1026= Synonymous 30/30 - 2
17-42449774-C-G c.3078G>C p.R1026= Synonymous 30/30 - 2
17-42449776-G-A c.3076C>T p.R1026W Missense 30/30 - 16
17-42449776-G-C c.3076C>G p.R1026G Missense 30/30 - 1
17-42449776-G-T c.3076C>A p.R1026= Synonymous 30/30 - 2
17-42449777-C-A c.3075G>T p.K1025N Missense 30/30 - 1
17-42449777-C-G c.3075G>C p.K1025N Missense 30/30 - 1
17-42449777-CT-GA c.3074_3075delinsTC p.K1025I Missense 30/30 - 1
17-42449777-CT-GC c.3074_3075delinsGC p.K1025S Missense 30/30 - 1
17-42449777-CTT-AAA c.3073_3075delinsTTT p.K1025F Missense 30/30 - 1
17-42449777-CTT-ACA c.3073_3075delinsTGT p.K1025C Missense 30/30 - 1
17-42449777-CTT-ATA c.3073_3075delinsTAT p.K1025Y Missense 30/30 - 1
17-42449777-CTT-ATG c.3073_3075delinsCAT p.K1025H Missense 30/30 - 1
17-42449777-CTT-GTC c.3073_3075delinsGAC p.K1025D Missense 30/30 - 1
17-42449778-T-A c.3074A>T p.K1025M Missense 30/30 - 1
17-42449778-T-C c.3074A>G p.K1025R Missense 30/30 - 1
17-42449778-T-G c.3074A>C p.K1025T Missense 30/30 - 1
17-42449778-TT-AC c.3073_3074delinsGT p.K1025V Missense 30/30 - 1
17-42449778-TT-AG c.3073_3074delinsCT p.K1025L Missense 30/30 - 1
17-42449778-TT-CA c.3073_3074delinsTG p.K1025W Missense 30/30 - 1
17-42449778-TT-CC c.3073_3074delinsGG p.K1025G Missense 30/30 - 1
17-42449778-TT-GC c.3073_3074delinsGC p.K1025A Missense 30/30 - 1
17-42449778-TT-GG c.3073_3074delinsCC p.K1025P Missense 30/30 - 1
17-42449779-T-C c.3073A>G p.K1025E Missense 30/30 - 2
17-42449779-T-G c.3073A>C p.K1025Q Missense 30/30 - 1
17-42449780-GAA-CAT c.3070_3072delinsATG p.F1024M Missense 30/30 - 1
17-42449780-GAA-CTC c.3070_3072delinsGAG p.F1024E Missense 30/30 - 1
17-42449780-GAA-CTT c.3070_3072delinsAAG p.F1024K Missense 30/30 - 1
17-42449780-GAA-TTG c.3070_3072delinsCAA p.F1024Q Missense 30/30 - 1
17-42449780-GA-CC c.3071_3072delinsGG p.F1024W Missense 30/30 - 1
17-42449781-AA-CC c.3070_3071delinsGG p.F1024G Missense 30/30 - 1
17-42449781-AA-CG c.3070_3071delinsCG p.F1024R Missense 30/30 - 1
17-42449781-AA-GC c.3070_3071delinsGC p.F1024A Missense 30/30 - 1
17-42449781-AA-GG c.3070_3071delinsCC p.F1024P Missense 30/30 - 1
17-42449781-AA-GT c.3070_3071delinsAC p.F1024T Missense 30/30 - 1
17-42449781-AA-TC c.3070_3071delinsGA p.F1024D Missense 30/30 - 1
17-42449781-AA-TG c.3070_3071delinsCA p.F1024H Missense 30/30 - 1
17-42449781-AA-TT c.3070_3071inv p.F1024N Missense 30/30 - 1
17-42449781-A-C c.3071T>G p.F1024C Missense 30/30 - 1
17-42449781-A-G c.3071T>C p.F1024S Missense 30/30 - 1
17-42449781-A-T c.3071T>A p.F1024Y Missense 30/30 - 1
17-42449780-G-C c.3072C>G p.F1024L Missense 30/30 - 1
17-42449780-G-T c.3072C>A p.F1024L Missense 30/30 - 1
17-42449782-A-C c.3070T>G p.F1024V Missense 30/30 - 1
17-42449782-A-G c.3070T>C p.F1024L Missense 30/30 - 2
17-42449782-A-T c.3070T>A p.F1024I Missense 30/30 - 1
17-42449783-G-A c.3069C>T p.F1023= Synonymous 30/30 - 2
17-42449783-GAA-CAT c.3067_3069delinsATG p.F1023M Missense 30/30 - 1
17-42449783-GAA-CTC c.3067_3069delinsGAG p.F1023E Missense 30/30 - 1
17-42449783-GAA-CTT c.3067_3069delinsAAG p.F1023K Missense 30/30 - 1
17-42449783-GAA-TTG c.3067_3069delinsCAA p.F1023Q Missense 30/30 - 1
17-42449783-GA-CC c.3068_3069delinsGG p.F1023W Missense 30/30 - 1
17-42449783-G-T c.3069C>A p.F1023L Missense 30/30 - 2
17-42449784-AA-CC c.3067_3068delinsGG p.F1023G Missense 30/30 - 1
17-42449784-AA-CG c.3067_3068delinsCG p.F1023R Missense 30/30 - 1
17-42449784-AA-GC c.3067_3068delinsGC p.F1023A Missense 30/30 - 1
17-42449784-AA-GG c.3067_3068delinsCC p.F1023P Missense 30/30 - 1
17-42449784-AA-GT c.3067_3068delinsAC p.F1023T Missense 30/30 - 1
17-42449784-AA-TC c.3067_3068delinsGA p.F1023D Missense 30/30 - 1
17-42449784-AA-TG c.3067_3068delinsCA p.F1023H Missense 30/30 - 1
17-42449784-AA-TT c.3067_3068inv p.F1023N Missense 30/30 - 1
17-42449784-A-C c.3068T>G p.F1023C Missense 30/30 - 1
17-42449784-A-G c.3068T>C p.F1023S Missense 30/30 - 1
17-42449784-A-T c.3068T>A p.F1023Y Missense 30/30 - 1
17-42449783-G-C c.3069C>G p.F1023L Missense 30/30 - 1
17-42449785-A-C c.3067T>G p.F1023V Missense 30/30 - 2
17-42449785-A-G c.3067T>C p.F1023L Missense 30/30 - 1
17-42449785-A-T c.3067T>A p.F1023I Missense 30/30 - 1
17-42449786-GCC-CAT c.3064_3066delinsATG p.G1022M Missense 30/30 - 1
17-42449786-GCC-CCA c.3064_3066delinsTGG p.G1022W Missense 30/30 - 1
17-42449786-GCC-CTT c.3064_3066delinsAAG p.G1022K Missense 30/30 - 1
17-42449786-GC-CT c.3065_3066delinsAG p.G1022E Missense 30/30 - 1
17-42449786-GCC-TTG c.3064_3066delinsCAA p.G1022Q Missense 30/30 - 1
17-42449787-C-A c.3065G>T p.G1022V Missense 30/30 - 1
17-42449787-CC-AA c.3064_3065delinsTT p.G1022F Missense 30/30 - 1
17-42449787-CC-AG c.3064_3065delinsCT p.G1022L Missense 30/30 - 1
17-42449787-CC-AT c.3064_3065delinsAT p.G1022I Missense 30/30 - 1
17-42449787-CC-GG c.3064_3065inv p.G1022P Missense 30/30 - 1
17-42449787-CC-GT c.3064_3065delinsAC p.G1022T Missense 30/30 - 1
17-42449787-CC-TA c.3064_3065delinsTA p.G1022Y Missense 30/30 - 1
17-42449787-CC-TG c.3064_3065delinsCA p.G1022H Missense 30/30 - 1
17-42449787-CC-TT c.3064_3065delinsAA p.G1022N Missense 30/30 - 1
17-42449787-C-G c.3065G>C p.G1022A Missense 30/30 - 1
17-42449787-C-T c.3065G>A p.G1022D Missense 30/30 - 1
17-42449788-C-A c.3064G>T p.G1022C Missense 30/30 - 2
17-42449788-C-G c.3064G>C p.G1022R Missense 30/30 - 2
17-42449788-C-T c.3064G>A p.G1022S Missense 30/30 - 2
17-42449789-G-A c.3063C>T p.V1021= Synonymous 30/30 - 39
17-42449789-GAC-CAT c.3061_3063delinsATG p.V1021M Missense 30/30 - 1
17-42449789-GAC-CCA c.3061_3063delinsTGG p.V1021W Missense 30/30 - 1
17-42449789-GAC-CTT c.3061_3063delinsAAG p.V1021K Missense 30/30 - 1
17-42449789-GA-CT c.3062_3063delinsAG p.V1021E Missense 30/30 - 1
17-42449789-GAC-TTG c.3061_3063delinsCAA p.V1021Q Missense 30/30 - 1
17-42449789-G-C c.3063C>G p.V1021= Synonymous 30/30 - 2
17-42449789-G-T c.3063C>A p.V1021= Synonymous 30/30 - 2
17-42449790-A-C c.3062T>G p.V1021G Missense 30/30 - 1
17-42449790-AC-CA c.3061_3062delinsTG p.V1021C Missense 30/30 - 1
17-42449790-AC-CG c.3061_3062delinsCG p.V1021R Missense 30/30 - 1
17-42449790-AC-CT c.3061_3062delinsAG p.V1021S Missense 30/30 - 1
17-42449790-AC-GG c.3061_3062delinsCC p.V1021P Missense 30/30 - 1
17-42449790-AC-GT c.3061_3062inv p.V1021T Missense 30/30 - 1
17-42449790-AC-TA c.3061_3062delinsTA p.V1021Y Missense 30/30 - 1
17-42449790-AC-TG c.3061_3062delinsCA p.V1021H Missense 30/30 - 1
17-42449790-AC-TT c.3061_3062delinsAA p.V1021N Missense 30/30 - 1
17-42449790-A-G c.3062T>C p.V1021A Missense 30/30 - 2
17-42449790-A-T c.3062T>A p.V1021D Missense 30/30 - 1
17-42449791-C-A c.3061G>T p.V1021F Missense 30/30 - 1
17-42449791-C-G c.3061G>C p.V1021L Missense 30/30 - 1
17-42449791-C-T c.3061G>A p.V1021I Missense 30/30 - 2
17-42451305-G-A c.3060+417C>T - IntronicSNV - 29/29 2
17-42451305-G-T c.3060+417C>A - IntronicSNV - 29/29 2
17-42451656-C-T c.3060+66G>A - IntronicSNV - 29/29 1
17-42451677-C-A c.3060+45G>T - IntronicSNV - 29/29 1
17-42451720-A-G c.3060+2T>C - IntronicSNV - 29/29 2
17-42451721-C-T c.3060+1G>A - IntronicSNV - 29/29 1
17-42451722-C-A c.3060G>T p.K1020N Missense 29/30 - 1
17-42451722-C-G c.3060G>C p.K1020N Missense 29/30 - 2
17-42451722-CT-GA c.3059_3060delinsTC p.K1020I Missense 29/30 - 1
17-42451722-CT-GC c.3059_3060delinsGC p.K1020S Missense 29/30 - 1
17-42451722-CTT-AAA c.3058_3060delinsTTT p.K1020F Missense 29/30 - 1
17-42451722-CTT-ACA c.3058_3060delinsTGT p.K1020C Missense 29/30 - 1
17-42451722-CTT-ATA c.3058_3060delinsTAT p.K1020Y Missense 29/30 - 1
17-42451722-CTT-ATG c.3058_3060delinsCAT p.K1020H Missense 29/30 - 1
17-42451722-CTT-GTC c.3058_3060delinsGAC p.K1020D Missense 29/30 - 1
17-42451723-T-A c.3059A>T p.K1020M Missense 29/30 - 1
17-42451723-T-C c.3059A>G p.K1020R Missense 29/30 - 1
17-42451723-T-G c.3059A>C p.K1020T Missense 29/30 - 1
17-42451723-TT-AC c.3058_3059delinsGT p.K1020V Missense 29/30 - 1
17-42451723-TT-AG c.3058_3059delinsCT p.K1020L Missense 29/30 - 1
17-42451723-TT-CA c.3058_3059delinsTG p.K1020W Missense 29/30 - 1
17-42451723-TT-CC c.3058_3059delinsGG p.K1020G Missense 29/30 - 1
17-42451723-TT-GC c.3058_3059delinsGC p.K1020A Missense 29/30 - 1
17-42451723-TT-GG c.3058_3059delinsCC p.K1020P Missense 29/30 - 1
17-42451724-T-C c.3058A>G p.K1020E Missense 29/30 - 1
17-42451724-T-G c.3058A>C p.K1020Q Missense 29/30 - 1
17-42451725-C-A c.3057G>T p.W1019C Missense 29/30 - 1
17-42451725-CC-AA c.3056_3057delinsTT p.W1019F Missense 29/30 - 1
17-42451725-CCA-ATG c.3055_3057delinsCAT p.W1019H Missense 29/30 - 1
17-42451725-CCA-GAT c.3055_3057delinsATC p.W1019I Missense 29/30 - 1
17-42451725-CCA-GTC c.3055_3057delinsGAC p.W1019D Missense 29/30 - 1
17-42451725-CCA-GTT c.3055_3057delinsAAC p.W1019N Missense 29/30 - 1
17-42451725-CC-AT c.3056_3057delinsAT p.W1019Y Missense 29/30 - 1
17-42451725-C-G c.3057G>C p.W1019C Missense 29/30 - 1
17-42451725-C-T c.3057G>A p.W1019* Nonsense 29/30 - 2
17-42451726-C-A c.3056G>T p.W1019L Missense 29/30 - 1
17-42451726-CA-AC c.3055_3056delinsGT p.W1019V Missense 29/30 - 1
17-42451726-CA-AT c.3055_3056delinsAT p.W1019M Missense 29/30 - 1
17-42451726-CA-GC c.3055_3056delinsGC p.W1019A Missense 29/30 - 1
17-42451726-CA-GG c.3055_3056delinsCC p.W1019P Missense 29/30 - 1
17-42451726-CA-GT c.3055_3056delinsAC p.W1019T Missense 29/30 - 1
17-42451726-CA-TC c.3055_3056delinsGA p.W1019E Missense 29/30 - 1
17-42451726-CA-TG c.3055_3056inv p.W1019Q Missense 29/30 - 1
17-42451726-CA-TT c.3055_3056delinsAA p.W1019K Missense 29/30 - 1
17-42451726-C-G c.3056G>C p.W1019S Missense 29/30 - 1
17-42451727-A-C c.3055T>G p.W1019G Missense 29/30 - 1
17-42451727-A-G c.3055T>C p.W1019R Missense 29/30 - 1
17-42451727-A-T c.3055T>A p.W1019R Missense 29/30 - 1
17-42451728-C-A c.3054G>T p.M1018I Missense 29/30 - 1
17-42451728-CA-GC c.3053_3054delinsGC p.M1018S Missense 29/30 - 1
17-42451728-CA-GT c.3053_3054delinsAC p.M1018N Missense 29/30 - 1
17-42451728-CAT-AAA c.3052_3054delinsTTT p.M1018F Missense 29/30 - 1
17-42451728-CAT-ACA c.3052_3054delinsTGT p.M1018C Missense 29/30 - 1
17-42451728-CAT-ATA c.3052_3054delinsTAT p.M1018Y Missense 29/30 - 1
17-42451728-CAT-ATG c.3052_3054inv p.M1018H Missense 29/30 - 1
17-42451728-CAT-GTC c.3052_3054delinsGAC p.M1018D Missense 29/30 - 1
17-42451728-C-G c.3054G>C p.M1018I Missense 29/30 - 1
17-42451728-C-T c.3054G>A p.M1018I Missense 29/30 - 1
17-42451729-A-C c.3053T>G p.M1018R Missense 29/30 - 1
17-42451729-A-G c.3053T>C p.M1018T Missense 29/30 - 6
17-42451729-A-T c.3053T>A p.M1018K Missense 29/30 - 1
17-42451729-AT-CA c.3052_3053delinsTG p.M1018W Missense 29/30 - 1
17-42451729-AT-CC c.3052_3053delinsGG p.M1018G Missense 29/30 - 1
17-42451729-AT-GC c.3052_3053delinsGC p.M1018A Missense 29/30 - 1
17-42451729-AT-GG c.3052_3053delinsCC p.M1018P Missense 29/30 - 1
17-42451729-AT-TC c.3052_3053delinsGA p.M1018E Missense 29/30 - 1
17-42451729-AT-TG c.3052_3053delinsCA p.M1018Q Missense 29/30 - 1
17-42451730-T-A c.3052A>T p.M1018L Missense 29/30 - 1
17-42451730-T-C c.3052A>G p.M1018V Missense 29/30 - 2
17-42451730-T-G c.3052A>C p.M1018L Missense 29/30 - 1
17-42451731-GGC-CAT c.3049_3051delinsATG p.A1017M Missense 29/30 - 1
17-42451731-GGC-CCA c.3049_3051delinsTGG p.A1017W Missense 29/30 - 1
17-42451731-GGC-CTT c.3049_3051delinsAAG p.A1017K Missense 29/30 - 1
17-42451731-GG-CT c.3050_3051delinsAG p.A1017E Missense 29/30 - 1
17-42451731-GGC-TTG c.3049_3051delinsCAA p.A1017Q Missense 29/30 - 1
17-42451732-G-A c.3050C>T p.A1017V Missense 29/30 - 2
17-42451732-G-C c.3050C>G p.A1017G Missense 29/30 - 1
17-42451732-GC-AA c.3049_3050delinsTT p.A1017F Missense 29/30 - 1
17-42451732-GC-AG c.3049_3050delinsCT p.A1017L Missense 29/30 - 1
17-42451732-GC-AT c.3049_3050delinsAT p.A1017I Missense 29/30 - 1
17-42451732-GC-CA c.3049_3050delinsTG p.A1017C Missense 29/30 - 1
17-42451732-GC-CG c.3049_3050delinsCG p.A1017R Missense 29/30 - 1
17-42451732-GC-TA c.3049_3050delinsTA p.A1017Y Missense 29/30 - 1
17-42451732-GC-TG c.3049_3050delinsCA p.A1017H Missense 29/30 - 1
17-42451732-GC-TT c.3049_3050delinsAA p.A1017N Missense 29/30 - 1
17-42451732-G-T c.3050C>A p.A1017D Missense 29/30 - 1
17-42451733-C-A c.3049G>T p.A1017S Missense 29/30 - 1
17-42451733-C-G c.3049G>C p.A1017P Missense 29/30 - 2
17-42451733-C-T c.3049G>A p.A1017T Missense 29/30 - 2
17-42451734-CA-AT c.3047_3048delinsAT p.L1016H Missense 29/30 - 1
17-42451734-CAG-AAA c.3046_3048delinsTTT p.L1016F Missense 29/30 - 1
17-42451734-CAG-ACA c.3046_3048delinsTGT p.L1016C Missense 29/30 - 1
17-42451734-CAG-ATA c.3046_3048delinsTAT p.L1016Y Missense 29/30 - 1
17-42451734-CAG-GAT c.3046_3048delinsATC p.L1016I Missense 29/30 - 1
17-42451734-CAG-GTC c.3046_3048delinsGAC p.L1016D Missense 29/30 - 1
17-42451734-CAG-GTT c.3046_3048delinsAAC p.L1016N Missense 29/30 - 1
17-42451735-A-C c.3047T>G p.L1016R Missense 29/30 - 1
17-42451735-A-G c.3047T>C p.L1016P Missense 29/30 - 2
17-42451735-AG-CA c.3046_3047delinsTG p.L1016W Missense 29/30 - 1
17-42451735-AG-CC c.3046_3047delinsGG p.L1016G Missense 29/30 - 1
17-42451735-AG-GA c.3046_3047delinsTC p.L1016S Missense 29/30 - 1
17-42451735-AG-GC c.3046_3047delinsGC p.L1016A Missense 29/30 - 1
17-42451735-AG-GT c.3046_3047delinsAC p.L1016T Missense 29/30 - 1
17-42451735-AG-TC c.3046_3047delinsGA p.L1016E Missense 29/30 - 1
17-42451735-AG-TT c.3046_3047delinsAA p.L1016K Missense 29/30 - 1
17-42451735-A-T c.3047T>A p.L1016Q Missense 29/30 - 1
17-42451736-G-C c.3046C>G p.L1016V Missense 29/30 - 1
17-42451736-G-T c.3046C>A p.L1016M Missense 29/30 - 1
17-42451737-GAC-CAT c.3043_3045delinsATG p.V1015M Missense 29/30 - 1
17-42451737-GAC-CCA c.3043_3045delinsTGG p.V1015W Missense 29/30 - 1
17-42451737-GAC-CTT c.3043_3045delinsAAG p.V1015K Missense 29/30 - 1
17-42451737-GA-CT c.3044_3045delinsAG p.V1015E Missense 29/30 - 1
17-42451737-GAC-TTG c.3043_3045delinsCAA p.V1015Q Missense 29/30 - 1
17-42451738-A-C c.3044T>G p.V1015G Missense 29/30 - 1
17-42451738-AC-CA c.3043_3044delinsTG p.V1015C Missense 29/30 - 1
17-42451738-AC-CG c.3043_3044delinsCG p.V1015R Missense 29/30 - 1
17-42451738-AC-CT c.3043_3044delinsAG p.V1015S Missense 29/30 - 1
17-42451738-AC-GG c.3043_3044delinsCC p.V1015P Missense 29/30 - 1
17-42451738-AC-GT c.3043_3044inv p.V1015T Missense 29/30 - 1
17-42451738-AC-TA c.3043_3044delinsTA p.V1015Y Missense 29/30 - 1
17-42451738-AC-TG c.3043_3044delinsCA p.V1015H Missense 29/30 - 1
17-42451738-AC-TT c.3043_3044delinsAA p.V1015N Missense 29/30 - 1
17-42451738-A-G c.3044T>C p.V1015A Missense 29/30 - 1
17-42451738-A-T c.3044T>A p.V1015D Missense 29/30 - 1
17-42451739-C-A c.3043G>T p.V1015F Missense 29/30 - 1
17-42451739-C-G c.3043G>C p.V1015L Missense 29/30 - 1
17-42451739-C-T c.3043G>A p.V1015I Missense 29/30 - 1
17-42451740-CA-AT c.3041_3042delinsAT p.L1014H Missense 29/30 - 1
17-42451740-CAG-AAA c.3040_3042delinsTTT p.L1014F Missense 29/30 - 1
17-42451740-CAG-ACA c.3040_3042delinsTGT p.L1014C Missense 29/30 - 1
17-42451740-CAG-ATA c.3040_3042delinsTAT p.L1014Y Missense 29/30 - 1
17-42451740-CAG-GAT c.3040_3042delinsATC p.L1014I Missense 29/30 - 1
17-42451740-CAG-GTC c.3040_3042delinsGAC p.L1014D Missense 29/30 - 1
17-42451740-CAG-GTT c.3040_3042delinsAAC p.L1014N Missense 29/30 - 1
17-42451741-A-C c.3041T>G p.L1014R Missense 29/30 - 1
17-42451741-A-G c.3041T>C p.L1014P Missense 29/30 - 1
17-42451741-AG-CA c.3040_3041delinsTG p.L1014W Missense 29/30 - 1
17-42451741-AG-CC c.3040_3041delinsGG p.L1014G Missense 29/30 - 1
17-42451741-AG-GA c.3040_3041delinsTC p.L1014S Missense 29/30 - 1
17-42451741-AG-GC c.3040_3041delinsGC p.L1014A Missense 29/30 - 1
17-42451741-AG-GT c.3040_3041delinsAC p.L1014T Missense 29/30 - 1
17-42451741-AG-TC c.3040_3041delinsGA p.L1014E Missense 29/30 - 1
17-42451741-AG-TT c.3040_3041delinsAA p.L1014K Missense 29/30 - 1
17-42451741-A-T c.3041T>A p.L1014Q Missense 29/30 - 1
17-42451742-G-C c.3040C>G p.L1014V Missense 29/30 - 1
17-42451742-G-T c.3040C>A p.L1014M Missense 29/30 - 1
17-42451743-GA-CC c.3038_3039delinsGG p.I1013R Missense 29/30 - 1
17-42451743-GA-CT c.3038_3039delinsAG p.I1013K Missense 29/30 - 1
17-42451743-GAT-CCA c.3037_3039delinsTGG p.I1013W Missense 29/30 - 1
17-42451743-GAT-CTC c.3037_3039delinsGAG p.I1013E Missense 29/30 - 1
17-42451743-GAT-TTG c.3037_3039delinsCAA p.I1013Q Missense 29/30 - 1
17-42451743-G-C c.3039C>G p.I1013M Missense 29/30 - 1
17-42451744-A-C c.3038T>G p.I1013S Missense 29/30 - 1
17-42451744-A-G c.3038T>C p.I1013T Missense 29/30 - 1
17-42451744-A-T c.3038T>A p.I1013N Missense 29/30 - 1
17-42451744-AT-CA c.3037_3038delinsTG p.I1013C Missense 29/30 - 1
17-42451744-AT-CC c.3037_3038delinsGG p.I1013G Missense 29/30 - 1
17-42451744-AT-GC c.3037_3038delinsGC p.I1013A Missense 29/30 - 1
17-42451744-AT-GG c.3037_3038delinsCC p.I1013P Missense 29/30 - 1
17-42451744-AT-TA c.3037_3038delinsTA p.I1013Y Missense 29/30 - 1
17-42451744-AT-TC c.3037_3038delinsGA p.I1013D Missense 29/30 - 1
17-42451744-AT-TG c.3037_3038delinsCA p.I1013H Missense 29/30 - 1
17-42451745-T-A c.3037A>T p.I1013F Missense 29/30 - 1
17-42451745-T-C c.3037A>G p.I1013V Missense 29/30 - 1
17-42451745-T-G c.3037A>C p.I1013L Missense 29/30 - 1
17-42451746-GG-CA c.3035_3036delinsTG p.T1012M Missense 29/30 - 1
17-42451746-GG-CC c.3035_3036inv p.T1012R Missense 29/30 - 1
17-42451746-GG-CT c.3035_3036delinsAG p.T1012K Missense 29/30 - 1
17-42451746-GGT-CCA c.3034_3036delinsTGG p.T1012W Missense 29/30 - 1
17-42451746-GGT-CTC c.3034_3036delinsGAG p.T1012E Missense 29/30 - 1
17-42451746-GGT-TTG c.3034_3036delinsCAA p.T1012Q Missense 29/30 - 1
17-42451747-G-A c.3035C>T p.T1012I Missense 29/30 - 1
17-42451747-G-C c.3035C>G p.T1012S Missense 29/30 - 1
17-42451747-G-T c.3035C>A p.T1012N Missense 29/30 - 1
17-42451747-GT-AA c.3034_3035delinsTT p.T1012F Missense 29/30 - 1
17-42451747-GT-AC c.3034_3035inv p.T1012V Missense 29/30 - 1
17-42451747-GT-AG c.3034_3035delinsCT p.T1012L Missense 29/30 - 1
17-42451747-GT-CA c.3034_3035delinsTG p.T1012C Missense 29/30 - 1
17-42451747-GT-CC c.3034_3035delinsGG p.T1012G Missense 29/30 - 1
17-42451747-GT-TA c.3034_3035delinsTA p.T1012Y Missense 29/30 - 1
17-42451747-GT-TC c.3034_3035delinsGA p.T1012D Missense 29/30 - 1
17-42451747-GT-TG c.3034_3035delinsCA p.T1012H Missense 29/30 - 1
17-42451748-T-A c.3034A>T p.T1012S Missense 29/30 - 1
17-42451748-T-C c.3034A>G p.T1012A Missense 29/30 - 1
17-42451748-T-G c.3034A>C p.T1012P Missense 29/30 - 1
17-42451749-GAG-CAT c.3031_3033delinsATG p.L1011M Missense 29/30 - 1
17-42451749-GAG-CCA c.3031_3033delinsTGG p.L1011W Missense 29/30 - 1
17-42451749-GAG-CTC c.3031_3033inv p.L1011E Missense 29/30 - 1
17-42451749-GAG-CTT c.3031_3033delinsAAG p.L1011K Missense 29/30 - 1
17-42451749-GA-TT c.3032_3033delinsAA p.L1011Q Missense 29/30 - 1
17-42451750-A-C c.3032T>G p.L1011R Missense 29/30 - 1
17-42451750-A-G c.3032T>C p.L1011P Missense 29/30 - 1
17-42451750-AG-CA c.3031_3032delinsTG p.L1011C Missense 29/30 - 1
17-42451750-AG-CC c.3031_3032delinsGG p.L1011G Missense 29/30 - 1
17-42451750-AG-CT c.3031_3032inv p.L1011S Missense 29/30 - 1
17-42451750-AG-GC c.3031_3032delinsGC p.L1011A Missense 29/30 - 1
17-42451750-AG-GT c.3031_3032delinsAC p.L1011T Missense 29/30 - 1
17-42451750-AG-TA c.3031_3032delinsTA p.L1011Y Missense 29/30 - 1
17-42451750-AG-TC c.3031_3032delinsGA p.L1011D Missense 29/30 - 1
17-42451750-AG-TT c.3031_3032delinsAA p.L1011N Missense 29/30 - 1
17-42451750-A-T c.3032T>A p.L1011H Missense 29/30 - 1
17-42451751-G-A c.3031C>T p.L1011F Missense 29/30 - 1
17-42451751-G-C c.3031C>G p.L1011V Missense 29/30 - 1
17-42451751-G-T c.3031C>A p.L1011I Missense 29/30 - 1
17-42451757-G-T c.3025C>A p.L1009M Missense 29/30 - 1
17-42451762-C-A c.3020G>T p.G1007V Missense 29/30 - 1
17-42451763-C-G c.3019G>C p.G1007R Missense 29/30 - 2
17-42451764-A-C c.3018T>G p.G1006= Synonymous 29/30 - 1
17-42451764-A-G c.3018T>C p.G1006= Synonymous 29/30 - 2
17-42451764-A-T c.3018T>A p.G1006= Synonymous 29/30 - 1
17-42451766-C-T c.3016G>A p.G1006S Missense 29/30 - 1
17-42451764-A-AC c.3017dup p.G1007Wfs*29 Frameshift 29/30 - 2
17-42451767-C-A c.3015G>T p.L1005= Synonymous 29/30 - 3
17-42451782-C-A c.3000G>T p.V1000= Synonymous 29/30 - 1
17-42451784-C-T c.2998G>A p.V1000M Missense 29/30 - 1
17-42451790-A-G c.2992T>C p.W998R Missense 29/30 - 1
17-42451790-A-T c.2992T>A p.W998R Missense 29/30 - 1
17-42451790-CA-C c.2992del p.W998Gfs*? Frameshift 29/30 - 1
17-42451795-G-T c.2987C>A p.P996Q Missense 29/30 - 2
17-42451801-G-A c.2981C>T p.A994V Missense 29/30 - 1
17-42451802-C-T c.2980G>A p.A994T Missense 29/30 - 4
17-42451804-C-A c.2978G>T p.R993M Missense 29/30 - 2
17-42451806-C-G c.2976G>C p.E992D Missense 29/30 - 1
17-42451802-CCCTCT-C c.2975_2979del p.E992Gfs*42 Frameshift 29/30 - 1
17-42451807-CT-C c.2975del p.E992Gfs*? Frameshift 29/30 - 3
17-42451811-C-T c.2971G>A p.E991K Missense 29/30 - 4
17-42451817-C-A c.2965G>T p.A989S Missense 29/30 - 1
17-42451817-C-G c.2965G>C p.A989P Missense 29/30 - 2
17-42451817-C-T c.2965G>A p.A989T Missense 29/30 - 8
17-42451818-C-T c.2964G>A p.R988= Synonymous 29/30 - 4
17-42451816-GC-G c.2965del p.A989Pfs*? Frameshift 29/30 - 4
17-42451820-G-A c.2962C>T p.R988W Missense 29/30 - 1
17-42451824-C-A c.2958G>T p.L986= Synonymous 29/30 - 1
17-42451824-C-G c.2958G>C p.L986= Synonymous 29/30 - 1
17-42451824-C-T c.2958G>A p.L986= Synonymous 29/30 - 1
17-42451826-G-A c.2956C>T p.L986= Synonymous 29/30 - 1
17-42451829-G-A c.2953C>T p.Q985* Nonsense 29/30 - 1
17-42451831-G-T c.2951C>A p.T984K Missense 29/30 - 1
17-42451838-C-T c.2944G>A p.V982M Missense 29/30 - 4
17-42451941-C-T c.2943+86G>A - IntronicSNV - 28/29 1
17-42452012-T-C c.2943+15A>G - IntronicSNV - 28/29 1
17-42452013-C-T c.2943+14G>A - IntronicSNV - 28/29 1
17-42452028-T-A c.2942A>T p.Q981L Missense 28/30 - 1
17-42452035-C-A c.2935G>T p.E979* Nonsense 28/30 - 2
17-42452035-C-G c.2935G>C p.E979Q Missense 28/30 - 1
17-42452037-C-A c.2933G>T p.G978V Missense 28/30 - 1
17-42452037-C-T c.2933G>A p.G978E Missense 28/30 - 1
17-42452038-C-G c.2932G>C p.G978R Missense 28/30 - 1
17-42452038-C-T c.2932G>A p.G978R Missense 28/30 - 2
17-42452040-C-A c.2930G>T p.R977L Missense 28/30 - 4
17-42452040-C-T c.2930G>A p.R977Q Missense 28/30 - 3
17-42452040-TC-T c.2930del p.R977Qfs*? Frameshift 28/30 - 1
17-42452041-G-A c.2929C>T p.R977* Nonsense 28/30 - 9
17-42452041-G-C c.2929C>G p.R977G Missense 28/30 - 2
17-42452041-G-T c.2929C>A p.R977= Synonymous 28/30 - 1
17-42452042-G-A c.2928C>T p.P976= Synonymous 28/30 - 2
17-42452042-G-C c.2928C>G p.P976= Synonymous 28/30 - 1
17-42452042-G-T c.2928C>A p.P976= Synonymous 28/30 - 1
17-42452043-G-A c.2927C>T p.P976L Missense 28/30 - 2
17-42452044-G-A c.2926C>T p.P976S Missense 28/30 - 2
17-42452052-A-G c.2918T>C p.L973P Missense 28/30 - 1
17-42452054-C-A c.2916G>T p.P972= Synonymous 28/30 - 2
17-42452054-C-G c.2916G>C p.P972= Synonymous 28/30 - 2
17-42452054-C-T c.2916G>A p.P972= Synonymous 28/30 - 5
17-42452055-G-C c.2915C>G p.P972R Missense 28/30 - 1
17-42452056-G-A c.2914C>T p.P972S Missense 28/30 - 2
17-42452054-C-CG c.2915dup p.L973Afs*63 Frameshift 28/30 - 4
17-42452064-G-A c.2906C>T p.A969V Missense 28/30 - 5
17-42452068-A-G c.2902T>C p.Y968H Missense 28/30 - 1
17-42452068-A-T c.2902T>A p.Y968N Missense 28/30 - 2
17-42452071-G-A c.2899C>T p.P967S Missense 28/30 - 7
17-42452076-G-A c.2894C>T p.S965F Missense 28/30 - 2
17-42452077-A-G c.2893T>C p.S965P Missense 28/30 - 3
17-42452080-A-T c.2890T>A p.S964T Missense 28/30 - 1
17-42452083-C-A c.2887G>T p.V963L Missense 28/30 - 2
17-42452083-C-G c.2887G>C p.V963L Missense 28/30 - 1
17-42452084-G-C c.2886C>G p.N962K Missense 28/30 - 2
17-42452084-G-T c.2886C>A p.N962K Missense 28/30 - 1
17-42452087-TG-T c.2883del p.F961Lfs*? Frameshift 28/30 - 1
17-42452090-C-T c.2880G>A p.W960* Nonsense 28/30 - 1
17-42452091-C-A c.2879G>T p.W960L Missense 28/30 - 3
17-42452095-C-A c.2875G>T p.A959S Missense 28/30 - 2
17-42452095-C-T c.2875G>A p.A959T Missense 28/30 - 2
17-42452097-T-A c.2873A>T p.H958L Missense 28/30 - 1
17-42452100-G-A c.2870C>T p.S957L Missense 28/30 - 2
17-42452102-C-A c.2868G>T p.Q956H Missense 28/30 - 1
17-42452105-CAG-AAA c.2863_2865delinsTTT p.L955F Missense 28/30 - 2
17-42452106-A-G c.2864T>C p.L955P Missense 28/30 - 2
17-42452106-A-T c.2864T>A p.L955Q Missense 28/30 - 1
17-42452114-C-T c.2856G>A p.Q952= Synonymous 28/30 - 1
17-42452119-C-A c.2851G>T p.D951Y Missense 28/30 - 1
17-42452120-C-A c.2850G>T p.L950= Synonymous 28/30 - 1
17-42452153-G-A c.2842-25C>T - IntronicSNV - 27/29 1
17-42452338-G-A c.2841+28C>T - IntronicSNV - 27/29 1
17-42452338-G-C c.2841+28C>G - IntronicSNV - 27/29 1
17-42452365-C-A c.2841+1G>T - IntronicSNV - 27/29 1
17-42452370-T-G c.2837A>C p.Y946S Missense 27/30 - 2
17-42452372-G-A c.2835C>T p.L945= Synonymous 27/30 - 1
17-42452379-G-A c.2828C>T p.P943L Missense 27/30 - 1
17-42452380-G-C c.2827C>G p.P943A Missense 27/30 - 1
17-42452385-C-A c.2822G>T p.W941L Missense 27/30 - 1
17-42452394-G-A c.2813C>T p.A938V Missense 27/30 - 1
17-42452407-C-A c.2800G>T p.V934F Missense 27/30 - 1
17-42452408-C-A c.2799G>T p.M933I Missense 27/30 - 1
17-42452408-C-G c.2799G>C p.M933I Missense 27/30 - 1
17-42452408-C-T c.2799G>A p.M933I Missense 27/30 - 1
17-42452416-G-A c.2791C>T p.R931W Missense 27/30 - 1
17-42452416-G-C c.2791C>G p.R931G Missense 27/30 - 1
17-42452416-GCTGC-G c.2787_2790del p.Q930Gfs*? Frameshift 27/30 - 1
17-42452423-GCG-CAT c.2782_2784delinsATG p.R928M Missense 27/30 - 1
17-42452423-GCG-CCA c.2782_2784delinsTGG p.R928W Missense 27/30 - 1
17-42452423-GCG-CTC c.2782_2784delinsGAG p.R928E Missense 27/30 - 1
17-42452423-GCG-CTT c.2782_2784delinsAAG p.R928K Missense 27/30 - 1
17-42452423-GC-TT c.2783_2784delinsAA p.R928Q Missense 27/30 - 1
17-42452424-C-A c.2783G>T p.R928L Missense 27/30 - 2
17-42452424-C-G c.2783G>C p.R928P Missense 27/30 - 1
17-42452424-CG-AA c.2782_2783delinsTT p.R928F Missense 27/30 - 1
17-42452424-CG-AC c.2782_2783delinsGT p.R928V Missense 27/30 - 1
17-42452424-CG-AT c.2782_2783delinsAT p.R928I Missense 27/30 - 1
17-42452424-CG-GC c.2782_2783delinsGC p.R928A Missense 27/30 - 1
17-42452424-CG-GT c.2782_2783delinsAC p.R928T Missense 27/30 - 1
17-42452424-CG-TA c.2782_2783delinsTA p.R928Y Missense 27/30 - 1
17-42452424-CG-TC c.2782_2783delinsGA p.R928D Missense 27/30 - 1
17-42452424-CG-TT c.2782_2783delinsAA p.R928N Missense 27/30 - 1
17-42452424-C-T c.2783G>A p.R928H Missense 27/30 - 1
17-42452425-G-A c.2782C>T p.R928C Missense 27/30 - 3
17-42452425-G-C c.2782C>G p.R928G Missense 27/30 - 1
17-42452425-G-T c.2782C>A p.R928S Missense 27/30 - 2
17-42452426-CGC-AAA c.2779_2781delinsTTT p.A927F Missense 27/30 - 1
17-42452426-CGC-ACA c.2779_2781delinsTGT p.A927C Missense 27/30 - 1
17-42452426-CGC-ATA c.2779_2781delinsTAT p.A927Y Missense 27/30 - 1
17-42452426-CGC-ATG c.2779_2781delinsCAT p.A927H Missense 27/30 - 1
17-42452426-CGC-GAT c.2779_2781delinsATC p.A927I Missense 27/30 - 1
17-42452426-CGC-GTT c.2779_2781delinsAAC p.A927N Missense 27/30 - 1
17-42452426-CG-GT c.2780_2781delinsAC p.A927D Missense 27/30 - 1
17-42452421-CCG-C c.2784_2785del p.G929Afs*106 Frameshift 27/30 - 1
17-42452427-G-A c.2780C>T p.A927V Missense 27/30 - 1
17-42452427-G-C c.2780C>G p.A927G Missense 27/30 - 1
17-42452427-GC-AG c.2779_2780delinsCT p.A927L Missense 27/30 - 1
17-42452427-GC-AT c.2779_2780delinsAT p.A927M Missense 27/30 - 1
17-42452427-GC-CA c.2779_2780delinsTG p.A927W Missense 27/30 - 1
17-42452427-GC-CT c.2779_2780delinsAG p.A927R Missense 27/30 - 1
17-42452427-GC-TG c.2779_2780delinsCA p.A927Q Missense 27/30 - 1
17-42452427-GC-TT c.2779_2780delinsAA p.A927K Missense 27/30 - 1
17-42452427-G-T c.2780C>A p.A927E Missense 27/30 - 1
17-42452428-C-A c.2779G>T p.A927S Missense 27/30 - 1
17-42452428-C-G c.2779G>C p.A927P Missense 27/30 - 1
17-42452428-C-T c.2779G>A p.A927T Missense 27/30 - 1
17-42452429-C-A c.2778G>T p.M926I Missense 27/30 - 1
17-42452429-CA-GC c.2777_2778delinsGC p.M926S Missense 27/30 - 1
17-42452429-CA-GT c.2777_2778delinsAC p.M926N Missense 27/30 - 1
17-42452429-CAT-AAA c.2776_2778delinsTTT p.M926F Missense 27/30 - 1
17-42452429-CAT-ACA c.2776_2778delinsTGT p.M926C Missense 27/30 - 1
17-42452429-CAT-ATA c.2776_2778delinsTAT p.M926Y Missense 27/30 - 1
17-42452429-CAT-ATG c.2776_2778inv p.M926H Missense 27/30 - 1
17-42452429-CAT-GTC c.2776_2778delinsGAC p.M926D Missense 27/30 - 1
17-42452429-C-G c.2778G>C p.M926I Missense 27/30 - 1
17-42452429-C-T c.2778G>A p.M926I Missense 27/30 - 1
17-42452430-A-C c.2777T>G p.M926R Missense 27/30 - 1
17-42452430-A-G c.2777T>C p.M926T Missense 27/30 - 1
17-42452430-A-T c.2777T>A p.M926K Missense 27/30 - 1
17-42452430-AT-CA c.2776_2777delinsTG p.M926W Missense 27/30 - 1
17-42452430-AT-CC c.2776_2777delinsGG p.M926G Missense 27/30 - 1
17-42452430-AT-GC c.2776_2777delinsGC p.M926A Missense 27/30 - 1
17-42452430-AT-GG c.2776_2777delinsCC p.M926P Missense 27/30 - 1
17-42452430-AT-TC c.2776_2777delinsGA p.M926E Missense 27/30 - 1
17-42452430-AT-TG c.2776_2777delinsCA p.M926Q Missense 27/30 - 1
17-42452431-T-A c.2776A>T p.M926L Missense 27/30 - 1
17-42452431-T-C c.2776A>G p.M926V Missense 27/30 - 1
17-42452431-T-G c.2776A>C p.M926L Missense 27/30 - 1
17-42452432-C-A c.2775G>T p.E925D Missense 27/30 - 1
17-42452432-C-G c.2775G>C p.E925D Missense 27/30 - 1
17-42452432-CTC-AAA c.2773_2775delinsTTT p.E925F Missense 27/30 - 1
17-42452432-CTC-ACA c.2773_2775delinsTGT p.E925C Missense 27/30 - 1
17-42452432-CTC-ATA c.2773_2775delinsTAT p.E925Y Missense 27/30 - 1
17-42452432-CTC-ATG c.2773_2775delinsCAT p.E925H Missense 27/30 - 1
17-42452432-CTC-GAT c.2773_2775delinsATC p.E925I Missense 27/30 - 1
17-42452432-CTC-GTT c.2773_2775delinsAAC p.E925N Missense 27/30 - 1
17-42452433-T-A c.2774A>T p.E925V Missense 27/30 - 1
17-42452433-T-C c.2774A>G p.E925G Missense 27/30 - 1
17-42452433-TC-AG c.2773_2774delinsCT p.E925L Missense 27/30 - 1
17-42452433-TC-AT c.2773_2774delinsAT p.E925M Missense 27/30 - 1
17-42452433-TC-CA c.2773_2774delinsTG p.E925W Missense 27/30 - 1
17-42452433-TC-CT c.2773_2774delinsAG p.E925R Missense 27/30 - 1
17-42452433-TC-GA c.2773_2774inv p.E925S Missense 27/30 - 1
17-42452433-TC-GG c.2773_2774delinsCC p.E925P Missense 27/30 - 1
17-42452433-TC-GT c.2773_2774delinsAC p.E925T Missense 27/30 - 1
17-42452433-T-G c.2774A>C p.E925A Missense 27/30 - 1
17-42452434-C-G c.2773G>C p.E925Q Missense 27/30 - 1
17-42452434-C-T c.2773G>A p.E925K Missense 27/30 - 1
17-42452435-C-A c.2772G>T p.Q924H Missense 27/30 - 2
17-42452435-C-G c.2772G>C p.Q924H Missense 27/30 - 1
17-42452435-CTG-AAA c.2770_2772delinsTTT p.Q924F Missense 27/30 - 1
17-42452435-CTG-ACA c.2770_2772delinsTGT p.Q924C Missense 27/30 - 1
17-42452435-CTG-ATA c.2770_2772delinsTAT p.Q924Y Missense 27/30 - 1
17-42452435-CTG-GAT c.2770_2772delinsATC p.Q924I Missense 27/30 - 1
17-42452435-CTG-GTC c.2770_2772delinsGAC p.Q924D Missense 27/30 - 1
17-42452435-CTG-GTT c.2770_2772delinsAAC p.Q924N Missense 27/30 - 1
17-42452436-T-A c.2771A>T p.Q924L Missense 27/30 - 1
17-42452436-T-C c.2771A>G p.Q924R Missense 27/30 - 1
17-42452436-T-G c.2771A>C p.Q924P Missense 27/30 - 1
17-42452436-TG-AC c.2770_2771delinsGT p.Q924V Missense 27/30 - 1
17-42452436-TG-AT c.2770_2771delinsAT p.Q924M Missense 27/30 - 1
17-42452436-TG-CA c.2770_2771inv p.Q924W Missense 27/30 - 1
17-42452436-TG-CC c.2770_2771delinsGG p.Q924G Missense 27/30 - 1
17-42452436-TG-GA c.2770_2771delinsTC p.Q924S Missense 27/30 - 1
17-42452436-TG-GC c.2770_2771delinsGC p.Q924A Missense 27/30 - 1
17-42452436-TG-GT c.2770_2771delinsAC p.Q924T Missense 27/30 - 1
17-42452437-G-A c.2770C>T p.Q924* Nonsense 27/30 - 1
17-42452437-G-C c.2770C>G p.Q924E Missense 27/30 - 1
17-42452437-G-T c.2770C>A p.Q924K Missense 27/30 - 1
17-42452438-CA-AT c.2768_2769delinsAT p.L923H Missense 27/30 - 1
17-42452438-CAG-AAA c.2767_2769delinsTTT p.L923F Missense 27/30 - 1
17-42452438-CAG-ACA c.2767_2769delinsTGT p.L923C Missense 27/30 - 1
17-42452438-CAG-ATA c.2767_2769delinsTAT p.L923Y Missense 27/30 - 1
17-42452438-CAG-GAT c.2767_2769delinsATC p.L923I Missense 27/30 - 1
17-42452438-CAG-GTC c.2767_2769delinsGAC p.L923D Missense 27/30 - 1
17-42452438-CAG-GTT c.2767_2769delinsAAC p.L923N Missense 27/30 - 1
17-42452439-A-C c.2768T>G p.L923R Missense 27/30 - 1
17-42452439-A-G c.2768T>C p.L923P Missense 27/30 - 1
17-42452439-AG-CA c.2767_2768delinsTG p.L923W Missense 27/30 - 1
17-42452439-AG-CC c.2767_2768delinsGG p.L923G Missense 27/30 - 1
17-42452439-AG-GA c.2767_2768delinsTC p.L923S Missense 27/30 - 1
17-42452439-AG-GC c.2767_2768delinsGC p.L923A Missense 27/30 - 1
17-42452439-AG-GT c.2767_2768delinsAC p.L923T Missense 27/30 - 1
17-42452439-AG-TC c.2767_2768delinsGA p.L923E Missense 27/30 - 1
17-42452439-AG-TT c.2767_2768delinsAA p.L923K Missense 27/30 - 1
17-42452439-A-T c.2768T>A p.L923Q Missense 27/30 - 1
17-42452440-G-C c.2767C>G p.L923V Missense 27/30 - 1
17-42452440-G-T c.2767C>A p.L923M Missense 27/30 - 1
17-42452441-G-C c.2766C>G p.D922E Missense 27/30 - 2
17-42452441-G-T c.2766C>A p.D922E Missense 27/30 - 2
17-42452441-GTC-CAT c.2764_2766delinsATG p.D922M Missense 27/30 - 1
17-42452441-GTC-CCA c.2764_2766delinsTGG p.D922W Missense 27/30 - 1
17-42452441-GTC-CTT c.2764_2766delinsAAG p.D922K Missense 27/30 - 1
17-42452441-GTC-TTG c.2764_2766delinsCAA p.D922Q Missense 27/30 - 1
17-42452442-T-A c.2765A>T p.D922V Missense 27/30 - 1
17-42452442-T-C c.2765A>G p.D922G Missense 27/30 - 1
17-42452442-TC-AA c.2764_2765delinsTT p.D922F Missense 27/30 - 1
17-42452442-TC-AG c.2764_2765delinsCT p.D922L Missense 27/30 - 1
17-42452442-TC-AT c.2764_2765delinsAT p.D922I Missense 27/30 - 1
17-42452442-TC-CA c.2764_2765delinsTG p.D922C Missense 27/30 - 1
17-42452442-TC-CG c.2764_2765delinsCG p.D922R Missense 27/30 - 1
17-42452442-TC-CT c.2764_2765delinsAG p.D922S Missense 27/30 - 1
17-42452442-TC-GG c.2764_2765delinsCC p.D922P Missense 27/30 - 1
17-42452442-TC-GT c.2764_2765delinsAC p.D922T Missense 27/30 - 1
17-42452442-T-G c.2765A>C p.D922A Missense 27/30 - 1
17-42452443-C-A c.2764G>T p.D922Y Missense 27/30 - 1
17-42452443-C-G c.2764G>C p.D922H Missense 27/30 - 1
17-42452443-C-T c.2764G>A p.D922N Missense 27/30 - 1
17-42452444-A-C c.2763T>G p.C921W Missense 27/30 - 1
17-42452444-ACA-CAT c.2761_2763delinsATG p.C921M Missense 27/30 - 1
17-42452444-ACA-CTC c.2761_2763delinsGAG p.C921E Missense 27/30 - 1
17-42452444-ACA-CTT c.2761_2763delinsAAG p.C921K Missense 27/30 - 1
17-42452444-ACA-TTG c.2761_2763delinsCAA p.C921Q Missense 27/30 - 1
17-42452445-C-A c.2762G>T p.C921F Missense 27/30 - 1
17-42452445-CA-AC c.2761_2762delinsGT p.C921V Missense 27/30 - 1
17-42452445-CA-AG c.2761_2762delinsCT p.C921L Missense 27/30 - 1
17-42452445-CA-AT c.2761_2762delinsAT p.C921I Missense 27/30 - 1
17-42452445-CA-GC c.2761_2762delinsGC p.C921A Missense 27/30 - 1
17-42452445-CA-GG c.2761_2762delinsCC p.C921P Missense 27/30 - 1
17-42452445-CA-GT c.2761_2762delinsAC p.C921T Missense 27/30 - 1
17-42452445-CA-TC c.2761_2762delinsGA p.C921D Missense 27/30 - 1
17-42452445-CA-TG c.2761_2762inv p.C921H Missense 27/30 - 1
17-42452445-CA-TT c.2761_2762delinsAA p.C921N Missense 27/30 - 1
17-42452445-C-T c.2762G>A p.C921Y Missense 27/30 - 1
17-42452445-C-G c.2762G>C p.C921S Missense 27/30 - 1
17-42452446-A-C c.2761T>G p.C921G Missense 27/30 - 1
17-42452446-A-G c.2761T>C p.C921R Missense 27/30 - 3
17-42452446-A-T c.2761T>A p.C921S Missense 27/30 - 1
17-42452447-C-A c.2760G>T p.Q920H Missense 27/30 - 1
17-42452447-C-G c.2760G>C p.Q920H Missense 27/30 - 1
17-42452447-CTG-AAA c.2758_2760delinsTTT p.Q920F Missense 27/30 - 1
17-42452447-CTG-ACA c.2758_2760delinsTGT p.Q920C Missense 27/30 - 1
17-42452447-CTG-ATA c.2758_2760delinsTAT p.Q920Y Missense 27/30 - 1
17-42452447-CTG-GAT c.2758_2760delinsATC p.Q920I Missense 27/30 - 1
17-42452447-CTG-GTC c.2758_2760delinsGAC p.Q920D Missense 27/30 - 1
17-42452447-CTG-GTT c.2758_2760delinsAAC p.Q920N Missense 27/30 - 1
17-42452448-T-A c.2759A>T p.Q920L Missense 27/30 - 1
17-42452448-T-C c.2759A>G p.Q920R Missense 27/30 - 1
17-42452448-T-G c.2759A>C p.Q920P Missense 27/30 - 1
17-42452448-TG-AC c.2758_2759delinsGT p.Q920V Missense 27/30 - 1
17-42452448-TG-AT c.2758_2759delinsAT p.Q920M Missense 27/30 - 1
17-42452448-TG-CA c.2758_2759inv p.Q920W Missense 27/30 - 1
17-42452448-TG-CC c.2758_2759delinsGG p.Q920G Missense 27/30 - 1
17-42452448-TG-GA c.2758_2759delinsTC p.Q920S Missense 27/30 - 1
17-42452448-TG-GC c.2758_2759delinsGC p.Q920A Missense 27/30 - 1
17-42452448-TG-GT c.2758_2759delinsAC p.Q920T Missense 27/30 - 1
17-42452449-G-C c.2758C>G p.Q920E Missense 27/30 - 1
17-42452449-G-T c.2758C>A p.Q920K Missense 27/30 - 1
17-42452450-CAC-AAA c.2755_2757delinsTTT p.V919F Missense 27/30 - 1
17-42452450-CAC-ACA c.2755_2757delinsTGT p.V919C Missense 27/30 - 1
17-42452450-CAC-ATA c.2755_2757delinsTAT p.V919Y Missense 27/30 - 1
17-42452450-CAC-ATG c.2755_2757delinsCAT p.V919H Missense 27/30 - 1
17-42452450-CAC-GAT c.2755_2757delinsATC p.V919I Missense 27/30 - 1
17-42452450-CAC-GTT c.2755_2757delinsAAC p.V919N Missense 27/30 - 1
17-42452450-CA-GT c.2756_2757delinsAC p.V919D Missense 27/30 - 1
17-42452451-A-C c.2756T>G p.V919G Missense 27/30 - 1
17-42452451-AC-CA c.2755_2756delinsTG p.V919W Missense 27/30 - 1
17-42452451-AC-CT c.2755_2756delinsAG p.V919R Missense 27/30 - 1
17-42452451-AC-GA c.2755_2756delinsTC p.V919S Missense 27/30 - 1
17-42452451-AC-GG c.2755_2756delinsCC p.V919P Missense 27/30 - 1
17-42452451-AC-GT c.2755_2756inv p.V919T Missense 27/30 - 1
17-42452451-AC-TG c.2755_2756delinsCA p.V919Q Missense 27/30 - 1
17-42452451-AC-TT c.2755_2756delinsAA p.V919K Missense 27/30 - 1
17-42452451-A-G c.2756T>C p.V919A Missense 27/30 - 1
17-42452451-A-T c.2756T>A p.V919E Missense 27/30 - 1
17-42452449-GCACCACAGTA-G c.2748_2757del p.T917Sfs*? Frameshift 27/30 - 2
17-42452452-C-A c.2755G>T p.V919L Missense 27/30 - 1
17-42452452-C-G c.2755G>C p.V919L Missense 27/30 - 1
17-42452452-C-T c.2755G>A p.V919M Missense 27/30 - 1
17-42452453-CAC-AAA c.2752_2754delinsTTT p.V918F Missense 27/30 - 1
17-42452453-CAC-ACA c.2752_2754delinsTGT p.V918C Missense 27/30 - 1
17-42452453-CAC-ATA c.2752_2754delinsTAT p.V918Y Missense 27/30 - 1
17-42452453-CAC-ATG c.2752_2754delinsCAT p.V918H Missense 27/30 - 1
17-42452453-CAC-GAT c.2752_2754delinsATC p.V918I Missense 27/30 - 1
17-42452453-CAC-GTT c.2752_2754delinsAAC p.V918N Missense 27/30 - 1
17-42452453-CA-GT c.2753_2754delinsAC p.V918D Missense 27/30 - 1
17-42452454-A-C c.2753T>G p.V918G Missense 27/30 - 1
17-42452454-AC-CA c.2752_2753delinsTG p.V918W Missense 27/30 - 1
17-42452454-AC-CT c.2752_2753delinsAG p.V918R Missense 27/30 - 1
17-42452454-AC-GA c.2752_2753delinsTC p.V918S Missense 27/30 - 1
17-42452454-AC-GG c.2752_2753delinsCC p.V918P Missense 27/30 - 1
17-42452454-AC-GT c.2752_2753inv p.V918T Missense 27/30 - 1
17-42452454-AC-TG c.2752_2753delinsCA p.V918Q Missense 27/30 - 1
17-42452454-AC-TT c.2752_2753delinsAA p.V918K Missense 27/30 - 1
17-42452454-A-G c.2753T>C p.V918A Missense 27/30 - 1
17-42452454-A-T c.2753T>A p.V918E Missense 27/30 - 1
17-42452455-C-A c.2752G>T p.V918L Missense 27/30 - 1
17-42452455-C-G c.2752G>C p.V918L Missense 27/30 - 1
17-42452455-C-T c.2752G>A p.V918M Missense 27/30 - 1
17-42452456-AG-CA c.2750_2751delinsTG p.T917M Missense 27/30 - 1
17-42452456-AG-CC c.2750_2751delinsGG p.T917R Missense 27/30 - 1
17-42452456-AG-CT c.2750_2751inv p.T917K Missense 27/30 - 1
17-42452456-AGT-CCA c.2749_2751delinsTGG p.T917W Missense 27/30 - 1
17-42452456-AGT-CTC c.2749_2751delinsGAG p.T917E Missense 27/30 - 1
17-42452456-AGT-TTG c.2749_2751delinsCAA p.T917Q Missense 27/30 - 1
17-42452457-G-A c.2750C>T p.T917I Missense 27/30 - 1
17-42452457-G-C c.2750C>G p.T917S Missense 27/30 - 1
17-42452457-G-T c.2750C>A p.T917N Missense 27/30 - 1
17-42452457-GT-AA c.2749_2750delinsTT p.T917F Missense 27/30 - 1
17-42452457-GT-AC c.2749_2750inv p.T917V Missense 27/30 - 1
17-42452457-GT-AG c.2749_2750delinsCT p.T917L Missense 27/30 - 1
17-42452457-GT-CA c.2749_2750delinsTG p.T917C Missense 27/30 - 1
17-42452457-GT-CC c.2749_2750delinsGG p.T917G Missense 27/30 - 1
17-42452457-GT-TA c.2749_2750delinsTA p.T917Y Missense 27/30 - 1
17-42452457-GT-TC c.2749_2750delinsGA p.T917D Missense 27/30 - 1
17-42452457-GT-TG c.2749_2750delinsCA p.T917H Missense 27/30 - 1
17-42452458-T-A c.2749A>T p.T917S Missense 27/30 - 1
17-42452458-T-C c.2749A>G p.T917A Missense 27/30 - 1
17-42452458-T-G c.2749A>C p.T917P Missense 27/30 - 1
17-42452459-A-C c.2748T>G p.C916W Missense 27/30 - 1
17-42452459-ACA-CAT c.2746_2748delinsATG p.C916M Missense 27/30 - 1
17-42452459-ACA-CTC c.2746_2748delinsGAG p.C916E Missense 27/30 - 1
17-42452459-ACA-CTT c.2746_2748delinsAAG p.C916K Missense 27/30 - 1
17-42452459-ACA-TTG c.2746_2748delinsCAA p.C916Q Missense 27/30 - 1
17-42452460-C-A c.2747G>T p.C916F Missense 27/30 - 1
17-42452460-CA-AC c.2746_2747delinsGT p.C916V Missense 27/30 - 1
17-42452460-CA-AG c.2746_2747delinsCT p.C916L Missense 27/30 - 1
17-42452460-CA-AT c.2746_2747delinsAT p.C916I Missense 27/30 - 1
17-42452460-CA-GC c.2746_2747delinsGC p.C916A Missense 27/30 - 2
17-42452460-CA-GG c.2746_2747delinsCC p.C916P Missense 27/30 - 1
17-42452460-CA-GT c.2746_2747delinsAC p.C916T Missense 27/30 - 2
17-42452460-CA-TC c.2746_2747delinsGA p.C916D Missense 27/30 - 1
17-42452460-CA-TG c.2746_2747inv p.C916H Missense 27/30 - 1
17-42452460-CA-TT c.2746_2747delinsAA p.C916N Missense 27/30 - 1
17-42452460-C-T c.2747G>A p.C916Y Missense 27/30 - 2
17-42452460-C-G c.2747G>C p.C916S Missense 27/30 - 1
17-42452461-A-C c.2746T>G p.C916G Missense 27/30 - 1
17-42452461-A-G c.2746T>C p.C916R Missense 27/30 - 1
17-42452461-A-T c.2746T>A p.C916S Missense 27/30 - 1
17-42452462-GGG-CAT c.2743_2745delinsATG p.P915M Missense 27/30 - 1
17-42452462-GGG-CCA c.2743_2745delinsTGG p.P915W Missense 27/30 - 1
17-42452462-GGG-CTC c.2743_2745delinsGAG p.P915E Missense 27/30 - 1
17-42452462-GGG-CTT c.2743_2745delinsAAG p.P915K Missense 27/30 - 1
17-42452462-GG-TT c.2744_2745delinsAA p.P915Q Missense 27/30 - 1
17-42452463-G-A c.2744C>T p.P915L Missense 27/30 - 1
17-42452463-G-C c.2744C>G p.P915R Missense 27/30 - 1
17-42452463-GG-AA c.2743_2744delinsTT p.P915F Missense 27/30 - 1
17-42452463-GG-AC c.2743_2744delinsGT p.P915V Missense 27/30 - 1
17-42452463-GG-AT c.2743_2744delinsAT p.P915I Missense 27/30 - 1
17-42452463-GG-CA c.2743_2744delinsTG p.P915C Missense 27/30 - 1
17-42452463-GG-CC c.2743_2744inv p.P915G Missense 27/30 - 1
17-42452463-GG-TA c.2743_2744delinsTA p.P915Y Missense 27/30 - 1
17-42452463-GG-TC c.2743_2744delinsGA p.P915D Missense 27/30 - 1
17-42452463-GG-TT c.2743_2744delinsAA p.P915N Missense 27/30 - 1
17-42452463-G-T c.2744C>A p.P915H Missense 27/30 - 1
17-42452464-G-A c.2743C>T p.P915S Missense 27/30 - 1
17-42452464-G-C c.2743C>G p.P915A Missense 27/30 - 1
17-42452464-G-T c.2743C>A p.P915T Missense 27/30 - 1
17-42452465-CGC-AAA c.2740_2742delinsTTT p.A914F Missense 27/30 - 1
17-42452465-CGC-ACA c.2740_2742delinsTGT p.A914C Missense 27/30 - 1
17-42452465-CGC-ATA c.2740_2742delinsTAT p.A914Y Missense 27/30 - 1
17-42452465-CGC-ATG c.2740_2742delinsCAT p.A914H Missense 27/30 - 1
17-42452465-CGC-GAT c.2740_2742delinsATC p.A914I Missense 27/30 - 1
17-42452465-CGC-GTT c.2740_2742delinsAAC p.A914N Missense 27/30 - 1
17-42452465-CG-GT c.2741_2742delinsAC p.A914D Missense 27/30 - 1
17-42452466-G-A c.2741C>T p.A914V Missense 27/30 - 2
17-42452466-G-C c.2741C>G p.A914G Missense 27/30 - 1
17-42452466-GC-AG c.2740_2741delinsCT p.A914L Missense 27/30 - 1
17-42452466-GC-AT c.2740_2741delinsAT p.A914M Missense 27/30 - 1
17-42452466-GC-CA c.2740_2741delinsTG p.A914W Missense 27/30 - 1
17-42452466-GC-CT c.2740_2741delinsAG p.A914R Missense 27/30 - 1
17-42452466-GC-TG c.2740_2741delinsCA p.A914Q Missense 27/30 - 1
17-42452466-GC-TT c.2740_2741delinsAA p.A914K Missense 27/30 - 1
17-42452466-G-T c.2741C>A p.A914E Missense 27/30 - 1
17-42452467-C-A c.2740G>T p.A914S Missense 27/30 - 1
17-42452467-C-G c.2740G>C p.A914P Missense 27/30 - 1
17-42452467-C-T c.2740G>A p.A914T Missense 27/30 - 1
17-42452468-C-A c.2739G>T p.S913= Synonymous 27/30 - 2
17-42452468-C-G c.2739G>C p.S913= Synonymous 27/30 - 2
17-42452468-CG-AA c.2738_2739delinsTT p.S913F Missense 27/30 - 1
17-42452468-CGA-ATG c.2737_2739delinsCAT p.S913H Missense 27/30 - 1
17-42452468-CG-AC c.2738_2739delinsGT p.S913C Missense 27/30 - 1
17-42452468-CGA-GAT c.2737_2739delinsATC p.S913I Missense 27/30 - 1
17-42452468-CGA-GTC c.2737_2739delinsGAC p.S913D Missense 27/30 - 1
17-42452468-CGA-GTT c.2737_2739delinsAAC p.S913N Missense 27/30 - 1
17-42452468-CG-AT c.2738_2739delinsAT p.S913Y Missense 27/30 - 1
17-42452468-C-T c.2739G>A p.S913= Synonymous 27/30 - 5
17-42452469-G-A c.2738C>T p.S913L Missense 27/30 - 1
17-42452469-GA-AC c.2737_2738delinsGT p.S913V Missense 27/30 - 1
17-42452469-GA-AT c.2737_2738delinsAT p.S913M Missense 27/30 - 1
17-42452469-GA-CC c.2737_2738delinsGG p.S913G Missense 27/30 - 1
17-42452469-GA-CT c.2737_2738delinsAG p.S913R Missense 27/30 - 1
17-42452469-GA-TC c.2737_2738inv p.S913E Missense 27/30 - 1
17-42452469-GA-TG c.2737_2738delinsCA p.S913Q Missense 27/30 - 1
17-42452469-GA-TT c.2737_2738delinsAA p.S913K Missense 27/30 - 1
17-42452469-G-C c.2738C>G p.S913W Missense 27/30 - 1
17-42452470-A-C c.2737T>G p.S913A Missense 27/30 - 1
17-42452470-A-G c.2737T>C p.S913P Missense 27/30 - 1
17-42452470-A-T c.2737T>A p.S913T Missense 27/30 - 1
17-42452471-G-C c.2736C>G p.D912E Missense 27/30 - 1
17-42452471-G-T c.2736C>A p.D912E Missense 27/30 - 1
17-42452471-GTC-CAT c.2734_2736delinsATG p.D912M Missense 27/30 - 1
17-42452471-GTC-CCA c.2734_2736delinsTGG p.D912W Missense 27/30 - 1
17-42452471-GTC-CTT c.2734_2736delinsAAG p.D912K Missense 27/30 - 1
17-42452471-GTC-TTG c.2734_2736delinsCAA p.D912Q Missense 27/30 - 1
17-42452472-T-A c.2735A>T p.D912V Missense 27/30 - 1
17-42452472-T-C c.2735A>G p.D912G Missense 27/30 - 2
17-42452472-TC-AA c.2734_2735delinsTT p.D912F Missense 27/30 - 1
17-42452472-TC-AG c.2734_2735delinsCT p.D912L Missense 27/30 - 1
17-42452472-TC-AT c.2734_2735delinsAT p.D912I Missense 27/30 - 1
17-42452472-TC-CA c.2734_2735delinsTG p.D912C Missense 27/30 - 1
17-42452472-TC-CG c.2734_2735delinsCG p.D912R Missense 27/30 - 1
17-42452472-TC-CT c.2734_2735delinsAG p.D912S Missense 27/30 - 1
17-42452472-TC-GG c.2734_2735delinsCC p.D912P Missense 27/30 - 1
17-42452472-TC-GT c.2734_2735delinsAC p.D912T Missense 27/30 - 1
17-42452472-T-G c.2735A>C p.D912A Missense 27/30 - 1
17-42452473-C-A c.2734G>T p.D912Y Missense 27/30 - 1
17-42452473-C-G c.2734G>C p.D912H Missense 27/30 - 1
17-42452473-C-T c.2734G>A p.D912N Missense 27/30 - 1
17-42452474-G-C c.2733C>G p.C911W Missense 27/30 - 1
17-42452474-GCA-CAT c.2731_2733delinsATG p.C911M Missense 27/30 - 1
17-42452474-GCA-CTC c.2731_2733delinsGAG p.C911E Missense 27/30 - 1
17-42452474-GCA-CTT c.2731_2733delinsAAG p.C911K Missense 27/30 - 1
17-42452474-GCA-TTG c.2731_2733delinsCAA p.C911Q Missense 27/30 - 1
17-42452475-C-A c.2732G>T p.C911F Missense 27/30 - 1
17-42452475-CA-AC c.2731_2732delinsGT p.C911V Missense 27/30 - 1
17-42452475-CA-AG c.2731_2732delinsCT p.C911L Missense 27/30 - 1
17-42452475-CA-AT c.2731_2732delinsAT p.C911I Missense 27/30 - 1
17-42452475-CA-GC c.2731_2732delinsGC p.C911A Missense 27/30 - 1
17-42452475-CA-GG c.2731_2732delinsCC p.C911P Missense 27/30 - 1
17-42452475-CA-GT c.2731_2732delinsAC p.C911T Missense 27/30 - 1
17-42452475-CA-TC c.2731_2732delinsGA p.C911D Missense 27/30 - 1
17-42452475-CA-TG c.2731_2732inv p.C911H Missense 27/30 - 1
17-42452475-CA-TT c.2731_2732delinsAA p.C911N Missense 27/30 - 1
17-42452475-C-T c.2732G>A p.C911Y Missense 27/30 - 1
17-42452475-C-G c.2732G>C p.C911S Missense 27/30 - 1
17-42452476-A-C c.2731T>G p.C911G Missense 27/30 - 1
17-42452476-A-G c.2731T>C p.C911R Missense 27/30 - 1
17-42452476-A-T c.2731T>A p.C911S Missense 27/30 - 1
17-42452477-G-C c.2730C>G p.S910R Missense 27/30 - 2
17-42452477-GC-CA c.2729_2730delinsTG p.S910M Missense 27/30 - 1
17-42452477-GC-CT c.2729_2730delinsAG p.S910K Missense 27/30 - 1
17-42452477-GCT-CCA c.2728_2730delinsTGG p.S910W Missense 27/30 - 1
17-42452477-GCT-CTC c.2728_2730delinsGAG p.S910E Missense 27/30 - 1
17-42452477-GCT-TTG c.2728_2730delinsCAA p.S910Q Missense 27/30 - 1
17-42452477-G-T c.2730C>A p.S910R Missense 27/30 - 2
17-42452479-T-G c.2728A>C p.S910R Missense 27/30 - 2
17-42452478-C-A c.2729G>T p.S910I Missense 27/30 - 2
17-42452478-C-G c.2729G>C p.S910T Missense 27/30 - 1
17-42452478-C-T c.2729G>A p.S910N Missense 27/30 - 1
17-42452478-CT-AA c.2728_2729delinsTT p.S910F Missense 27/30 - 1
17-42452478-CT-AC c.2728_2729delinsGT p.S910V Missense 27/30 - 1
17-42452478-CT-AG c.2728_2729inv p.S910L Missense 27/30 - 1
17-42452478-CT-GC c.2728_2729delinsGC p.S910A Missense 27/30 - 1
17-42452478-CT-GG c.2728_2729delinsCC p.S910P Missense 27/30 - 1
17-42452478-CT-TA c.2728_2729delinsTA p.S910Y Missense 27/30 - 1
17-42452478-CT-TC c.2728_2729delinsGA p.S910D Missense 27/30 - 1
17-42452478-CT-TG c.2728_2729delinsCA p.S910H Missense 27/30 - 1
17-42452479-T-A c.2728A>T p.S910C Missense 27/30 - 1
17-42452479-T-C c.2728A>G p.S910G Missense 27/30 - 1
17-42452945-G-C c.2727+14C>G - IntronicSNV - 26/29 1
17-42452959-TAC-AAA c.2725_2727delinsTTT p.V909F Missense 26/30 - 1
17-42452959-TAC-ACA c.2725_2727delinsTGT p.V909C Missense 26/30 - 1
17-42452959-TAC-ATA c.2725_2727delinsTAT p.V909Y Missense 26/30 - 1
17-42452959-TAC-ATG c.2725_2727delinsCAT p.V909H Missense 26/30 - 1
17-42452959-TAC-CAT c.2725_2727delinsATG p.V909M Missense 26/30 - 1
17-42452959-TAC-CCA c.2725_2727delinsTGG p.V909W Missense 26/30 - 1
17-42452959-TAC-GTT c.2725_2727delinsAAC p.V909N Missense 26/30 - 1
17-42452959-TA-GT c.2726_2727delinsAC p.V909D Missense 26/30 - 1
17-42452960-A-C c.2726T>G p.V909G Missense 26/30 - 1
17-42452960-AC-CT c.2725_2726delinsAG p.V909R Missense 26/30 - 1
17-42452960-AC-GA c.2725_2726delinsTC p.V909S Missense 26/30 - 1
17-42452960-AC-GG c.2725_2726delinsCC p.V909P Missense 26/30 - 1
17-42452960-AC-GT c.2725_2726inv p.V909T Missense 26/30 - 1
17-42452960-AC-TG c.2725_2726delinsCA p.V909Q Missense 26/30 - 1
17-42452960-AC-TT c.2725_2726delinsAA p.V909K Missense 26/30 - 1
17-42452960-A-G c.2726T>C p.V909A Missense 26/30 - 1
17-42452960-A-T c.2726T>A p.V909E Missense 26/30 - 1
17-42452961-C-A c.2725G>T p.V909L Missense 26/30 - 1
17-42452961-C-G c.2725G>C p.V909L Missense 26/30 - 2
17-42452961-C-T c.2725G>A p.V909I Missense 26/30 - 1
17-42452962-G-A c.2724C>T p.L908= Synonymous 26/30 - 3
17-42452962-GAG-CAT c.2722_2724delinsATG p.L908M Missense 26/30 - 1
17-42452962-GAG-CCA c.2722_2724delinsTGG p.L908W Missense 26/30 - 1
17-42452962-GAG-CTC c.2722_2724inv p.L908E Missense 26/30 - 1
17-42452962-GAG-CTT c.2722_2724delinsAAG p.L908K Missense 26/30 - 1
17-42452962-GA-TT c.2723_2724delinsAA p.L908Q Missense 26/30 - 1
17-42452962-G-C c.2724C>G p.L908= Synonymous 26/30 - 1
17-42452962-G-T c.2724C>A p.L908= Synonymous 26/30 - 1
17-42452963-A-C c.2723T>G p.L908R Missense 26/30 - 1
17-42452963-A-G c.2723T>C p.L908P Missense 26/30 - 1
17-42452963-AG-CA c.2722_2723delinsTG p.L908C Missense 26/30 - 1
17-42452963-AG-CC c.2722_2723delinsGG p.L908G Missense 26/30 - 1
17-42452963-AG-CT c.2722_2723inv p.L908S Missense 26/30 - 1
17-42452963-AG-GC c.2722_2723delinsGC p.L908A Missense 26/30 - 1
17-42452963-AG-GT c.2722_2723delinsAC p.L908T Missense 26/30 - 1
17-42452963-AG-TA c.2722_2723delinsTA p.L908Y Missense 26/30 - 1
17-42452963-AG-TC c.2722_2723delinsGA p.L908D Missense 26/30 - 1
17-42452963-AG-TT c.2722_2723delinsAA p.L908N Missense 26/30 - 1
17-42452963-A-T c.2723T>A p.L908H Missense 26/30 - 1
17-42452964-G-A c.2722C>T p.L908F Missense 26/30 - 1
17-42452964-G-C c.2722C>G p.L908V Missense 26/30 - 1
17-42452964-G-T c.2722C>A p.L908I Missense 26/30 - 3
17-42452965-AAC-CAT c.2719_2721delinsATG p.V907M Missense 26/30 - 1
17-42452965-AAC-CCA c.2719_2721delinsTGG p.V907W Missense 26/30 - 1
17-42452965-AAC-CTT c.2719_2721delinsAAG p.V907K Missense 26/30 - 1
17-42452965-AA-CT c.2720_2721delinsAG p.V907E Missense 26/30 - 1
17-42452965-AAC-TTG c.2719_2721delinsCAA p.V907Q Missense 26/30 - 1
17-42452966-A-C c.2720T>G p.V907G Missense 26/30 - 1
17-42452966-AC-CA c.2719_2720delinsTG p.V907C Missense 26/30 - 1
17-42452966-AC-CG c.2719_2720delinsCG p.V907R Missense 26/30 - 1
17-42452966-AC-CT c.2719_2720delinsAG p.V907S Missense 26/30 - 1
17-42452966-AC-GG c.2719_2720delinsCC p.V907P Missense 26/30 - 1
17-42452966-AC-GT c.2719_2720inv p.V907T Missense 26/30 - 1
17-42452966-AC-TA c.2719_2720delinsTA p.V907Y Missense 26/30 - 1
17-42452966-AC-TG c.2719_2720delinsCA p.V907H Missense 26/30 - 1
17-42452966-AC-TT c.2719_2720delinsAA p.V907N Missense 26/30 - 1
17-42452966-A-G c.2720T>C p.V907A Missense 26/30 - 1
17-42452966-A-T c.2720T>A p.V907D Missense 26/30 - 1
17-42452967-C-A c.2719G>T p.V907F Missense 26/30 - 1
17-42452967-C-G c.2719G>C p.V907L Missense 26/30 - 1
17-42452967-C-T c.2719G>A p.V907I Missense 26/30 - 2
17-42452968-TG-AT c.2717_2718delinsAT p.P906H Missense 26/30 - 1
17-42452968-TGG-AAA c.2716_2718delinsTTT p.P906F Missense 26/30 - 1
17-42452968-TGG-ACA c.2716_2718delinsTGT p.P906C Missense 26/30 - 1
17-42452968-TGG-ATA c.2716_2718delinsTAT p.P906Y Missense 26/30 - 1
17-42452968-TGG-CAT c.2716_2718delinsATG p.P906M Missense 26/30 - 1
17-42452968-TGG-CCA c.2716_2718inv p.P906W Missense 26/30 - 1
17-42452968-TGG-GTC c.2716_2718delinsGAC p.P906D Missense 26/30 - 1
17-42452968-TGG-GTT c.2716_2718delinsAAC p.P906N Missense 26/30 - 1
17-42452969-G-A c.2717C>T p.P906L Missense 26/30 - 1
17-42452969-G-C c.2717C>G p.P906R Missense 26/30 - 1
17-42452969-GG-AC c.2716_2717delinsGT p.P906V Missense 26/30 - 1
17-42452969-GG-AT c.2716_2717delinsAT p.P906I Missense 26/30 - 1
17-42452969-GG-CC c.2716_2717inv p.P906G Missense 26/30 - 1
17-42452969-GG-TC c.2716_2717delinsGA p.P906E Missense 26/30 - 1
17-42452969-GG-TT c.2716_2717delinsAA p.P906K Missense 26/30 - 1
17-42452969-G-T c.2717C>A p.P906Q Missense 26/30 - 1
17-42452970-G-A c.2716C>T p.P906S Missense 26/30 - 1
17-42452970-G-C c.2716C>G p.P906A Missense 26/30 - 2
17-42452970-G-T c.2716C>A p.P906T Missense 26/30 - 1
17-42452971-A-C c.2715T>G p.D905E Missense 26/30 - 1
17-42452971-A-T c.2715T>A p.D905E Missense 26/30 - 1
17-42452971-ATC-CAT c.2713_2715delinsATG p.D905M Missense 26/30 - 1
17-42452971-ATC-CCA c.2713_2715delinsTGG p.D905W Missense 26/30 - 1
17-42452971-ATC-CTT c.2713_2715delinsAAG p.D905K Missense 26/30 - 1
17-42452971-ATC-TTG c.2713_2715delinsCAA p.D905Q Missense 26/30 - 1
17-42452972-T-A c.2714A>T p.D905V Missense 26/30 - 1
17-42452972-T-C c.2714A>G p.D905G Missense 26/30 - 1
17-42452972-TC-AA c.2713_2714delinsTT p.D905F Missense 26/30 - 1
17-42452972-TC-AG c.2713_2714delinsCT p.D905L Missense 26/30 - 1
17-42452972-TC-AT c.2713_2714delinsAT p.D905I Missense 26/30 - 1
17-42452972-TC-CA c.2713_2714delinsTG p.D905C Missense 26/30 - 1
17-42452972-TC-CG c.2713_2714delinsCG p.D905R Missense 26/30 - 1
17-42452972-TC-CT c.2713_2714delinsAG p.D905S Missense 26/30 - 1
17-42452972-TC-GG c.2713_2714delinsCC p.D905P Missense 26/30 - 1
17-42452972-TC-GT c.2713_2714delinsAC p.D905T Missense 26/30 - 1
17-42452972-T-G c.2714A>C p.D905A Missense 26/30 - 1
17-42452973-C-A c.2713G>T p.D905Y Missense 26/30 - 1
17-42452973-C-G c.2713G>C p.D905H Missense 26/30 - 1
17-42452973-C-T c.2713G>A p.D905N Missense 26/30 - 1
17-42452979-G-T c.2707C>A p.L903I Missense 26/30 - 3
17-42452981-CT-TA c.2704_2705delinsTA p.R902* Nonsense 26/30 - 1
17-42452984-G-A c.2702C>T p.S901L Missense 26/30 - 1
17-42452994-C-A c.2692G>T p.E898* Nonsense 26/30 - 1
17-42452995-G-A c.2691C>T p.P897= Synonymous 26/30 - 1
17-42452996-G-A c.2690C>T p.P897L Missense 26/30 - 3
17-42452999-T-C c.2687A>G p.E896G Missense 26/30 - 2
17-42453001-T-C c.2685A>G p.P895= Synonymous 26/30 - 1
17-42453007-G-A c.2679C>T p.F893= Synonymous 26/30 - 1
17-42453011-A-T c.2675T>A p.I892N Missense 26/30 - 1
17-42453014-T-C c.2672A>G p.Q891R Missense 26/30 - 1
17-42453015-G-A c.2671C>T p.Q891* Nonsense 26/30 - 4
17-42453016-TCT-ATG c.2668_2670delinsCAT p.R890H Missense 26/30 - 1
17-42453020-C-A c.2666G>T p.R889L Missense 26/30 - 6
17-42453021-G-A c.2665C>T p.R889C Missense 26/30 - 5
17-42453026-C-T c.2660G>A p.R887Q Missense 26/30 - 2
17-42453027-G-A c.2659C>T p.R887W Missense 26/30 - 1
17-42453030-T-C c.2656A>G p.K886E Missense 26/30 - 1
17-42453031-G-C c.2655C>G p.H885Q Missense 26/30 - 1
17-42453031-G-T c.2655C>A p.H885Q Missense 26/30 - 1
17-42453032-GT-G c.2654del p.H885Pfs*25 Frameshift 26/30 - 1
17-42453033-G-A c.2653C>T p.H885Y Missense 26/30 - 1
17-42453036-G-A c.2650C>T p.H884Y Missense 26/30 - 1
17-42453039-C-T c.2647G>A p.A883T Missense 26/30 - 3
17-42453041-G-A c.2645C>T p.P882L Missense 26/30 - 1
17-42453041-G-C c.2645C>G p.P882R Missense 26/30 - 1
17-42453044-T-C c.2642A>G p.H881R Missense 26/30 - 2
17-42453045-G-A c.2641C>T p.H881Y Missense 26/30 - 1
17-42453047-A-G c.2639T>C p.I880T Missense 26/30 - 1
17-42453052-G-A c.2634C>T p.S878= Synonymous 26/30 - 2
17-42453048-TG-T c.2637del p.I880Ffs*30 Frameshift 26/30 - 2
17-42453053-G-A c.2633C>T p.S878F Missense 26/30 - 2
17-42453054-A-C c.2632T>G p.S878A Missense 26/30 - 1
17-42453055-G-A c.2631C>T p.P877= Synonymous 26/30 - 3
17-42453055-G-T c.2631C>A p.P877= Synonymous 26/30 - 1
17-42453057-G-A c.2629C>T p.P877S Missense 26/30 - 1
17-42453058-G-C c.2628C>G p.S876R Missense 26/30 - 2
17-42453058-GCT-CCA c.2626_2628delinsTGG p.S876W Missense 26/30 - 1
17-42453058-G-T c.2628C>A p.S876R Missense 26/30 - 1
17-42453060-T-G c.2626A>C p.S876R Missense 26/30 - 1
17-42453062-G-A c.2624C>T p.P875L Missense 26/30 - 1
17-42453064-G-A c.2622C>T p.I874= Synonymous 26/30 - 2
17-42453064-G-T c.2622C>A p.I874= Synonymous 26/30 - 2
17-42453065-A-C c.2621T>G p.I874S Missense 26/30 - 67
17-42453068-G-A c.2618C>T p.P873L Missense 26/30 - 1
17-42453072-G-C c.2614C>G p.L872V Missense 26/30 - 1
17-42453072-G-T c.2614C>A p.L872M Missense 26/30 - 5
17-42453075-C-G c.2611G>C p.G871R Missense 26/30 - 1
17-42453076-C-A c.2610G>T p.W870C Missense 26/30 - 1
17-42453076-CC-AA c.2609_2610delinsTT p.W870F Missense 26/30 - 1
17-42453076-CCA-ATG c.2608_2610delinsCAT p.W870H Missense 26/30 - 1
17-42453076-CCA-GAT c.2608_2610delinsATC p.W870I Missense 26/30 - 1
17-42453076-CCA-GTC c.2608_2610delinsGAC p.W870D Missense 26/30 - 1
17-42453076-CCA-GTT c.2608_2610delinsAAC p.W870N Missense 26/30 - 1
17-42453076-CC-AT c.2609_2610delinsAT p.W870Y Missense 26/30 - 1
17-42453076-C-G c.2610G>C p.W870C Missense 26/30 - 1
17-42453072-GC-G c.2613del p.L872Cfs*38 Frameshift 26/30 - 1
17-42453077-C-A c.2609G>T p.W870L Missense 26/30 - 1
17-42453077-CA-AC c.2608_2609delinsGT p.W870V Missense 26/30 - 1
17-42453077-CA-AT c.2608_2609delinsAT p.W870M Missense 26/30 - 1
17-42453077-CA-GC c.2608_2609delinsGC p.W870A Missense 26/30 - 1
17-42453077-CA-GG c.2608_2609delinsCC p.W870P Missense 26/30 - 1
17-42453077-CA-GT c.2608_2609delinsAC p.W870T Missense 26/30 - 1
17-42453077-CA-TC c.2608_2609delinsGA p.W870E Missense 26/30 - 1
17-42453077-CA-TG c.2608_2609inv p.W870Q Missense 26/30 - 1
17-42453077-CA-TT c.2608_2609delinsAA p.W870K Missense 26/30 - 1
17-42453077-C-G c.2609G>C p.W870S Missense 26/30 - 1
17-42453078-A-C c.2608T>G p.W870G Missense 26/30 - 2
17-42453078-A-G c.2608T>C p.W870R Missense 26/30 - 2
17-42453078-A-T c.2608T>A p.W870R Missense 26/30 - 2
17-42453079-G-C c.2607C>G p.D869E Missense 26/30 - 1
17-42453079-G-T c.2607C>A p.D869E Missense 26/30 - 1
17-42453079-GTC-CAT c.2605_2607delinsATG p.D869M Missense 26/30 - 1
17-42453079-GTC-CCA c.2605_2607delinsTGG p.D869W Missense 26/30 - 1
17-42453079-GTC-CTT c.2605_2607delinsAAG p.D869K Missense 26/30 - 1
17-42453079-GTC-TTG c.2605_2607delinsCAA p.D869Q Missense 26/30 - 1
17-42453080-T-A c.2606A>T p.D869V Missense 26/30 - 1
17-42453080-T-C c.2606A>G p.D869G Missense 26/30 - 1
17-42453080-TC-AA c.2605_2606delinsTT p.D869F Missense 26/30 - 1
17-42453080-TC-AG c.2605_2606delinsCT p.D869L Missense 26/30 - 1
17-42453080-TC-AT c.2605_2606delinsAT p.D869I Missense 26/30 - 1
17-42453080-TC-CA c.2605_2606delinsTG p.D869C Missense 26/30 - 1
17-42453080-TC-CG c.2605_2606delinsCG p.D869R Missense 26/30 - 1
17-42453080-TC-CT c.2605_2606delinsAG p.D869S Missense 26/30 - 1
17-42453080-TC-GG c.2605_2606delinsCC p.D869P Missense 26/30 - 1
17-42453080-TC-GT c.2605_2606delinsAC p.D869T Missense 26/30 - 1
17-42453080-T-G c.2606A>C p.D869A Missense 26/30 - 1
17-42453081-C-A c.2605G>T p.D869Y Missense 26/30 - 1
17-42453081-C-G c.2605G>C p.D869H Missense 26/30 - 1
17-42453081-C-T c.2605G>A p.D869N Missense 26/30 - 1
17-42453082-C-A c.2604G>T p.V868= Synonymous 26/30 - 1
17-42453082-CAC-AAA c.2602_2604delinsTTT p.V868F Missense 26/30 - 1
17-42453082-CAC-ACA c.2602_2604delinsTGT p.V868C Missense 26/30 - 1
17-42453082-CAC-ATA c.2602_2604delinsTAT p.V868Y Missense 26/30 - 1
17-42453082-CAC-ATG c.2602_2604delinsCAT p.V868H Missense 26/30 - 1
17-42453082-CAC-GAT c.2602_2604delinsATC p.V868I Missense 26/30 - 1
17-42453082-CAC-GTT c.2602_2604delinsAAC p.V868N Missense 26/30 - 1
17-42453082-CA-GT c.2603_2604delinsAC p.V868D Missense 26/30 - 1
17-42453082-C-G c.2604G>C p.V868= Synonymous 26/30 - 1
17-42453082-C-T c.2604G>A p.V868= Synonymous 26/30 - 1
17-42453083-A-C c.2603T>G p.V868G Missense 26/30 - 1
17-42453083-AC-CA c.2602_2603delinsTG p.V868W Missense 26/30 - 1
17-42453083-AC-CT c.2602_2603delinsAG p.V868R Missense 26/30 - 1
17-42453083-AC-GA c.2602_2603delinsTC p.V868S Missense 26/30 - 1
17-42453083-AC-GG c.2602_2603delinsCC p.V868P Missense 26/30 - 1
17-42453083-AC-GT c.2602_2603inv p.V868T Missense 26/30 - 1
17-42453083-AC-TG c.2602_2603delinsCA p.V868Q Missense 26/30 - 1
17-42453083-AC-TT c.2602_2603delinsAA p.V868K Missense 26/30 - 1
17-42453083-A-G c.2603T>C p.V868A Missense 26/30 - 1
17-42453083-A-T c.2603T>A p.V868E Missense 26/30 - 1
17-42453084-C-A c.2602G>T p.V868L Missense 26/30 - 1
17-42453084-C-G c.2602G>C p.V868L Missense 26/30 - 1
17-42453084-C-T c.2602G>A p.V868M Missense 26/30 - 8
17-42453087-G-A c.2602-3C>T - IntronicSNV - 25/29 2
17-42453087-G-C c.2602-3C>G - IntronicSNV - 25/29 2
17-42453087-G-T c.2602-3C>A - IntronicSNV - 25/29 2
17-42453124-G-A c.2602-40C>T - IntronicSNV - 25/29 2
17-42453190-C-T c.2601+11G>A - IntronicSNV - 25/29 1
17-42453201-C-A c.2601G>T p.K867N Missense 25/30 - 1
17-42453201-C-G c.2601G>C p.K867N Missense 25/30 - 1
17-42453201-CT-GA c.2600_2601delinsTC p.K867I Missense 25/30 - 1
17-42453201-CT-GC c.2600_2601delinsGC p.K867S Missense 25/30 - 1
17-42453201-CTT-AAA c.2599_2601delinsTTT p.K867F Missense 25/30 - 1
17-42453201-CTT-ACA c.2599_2601delinsTGT p.K867C Missense 25/30 - 1
17-42453201-CTT-ATA c.2599_2601delinsTAT p.K867Y Missense 25/30 - 1
17-42453201-CTT-ATG c.2599_2601delinsCAT p.K867H Missense 25/30 - 1
17-42453201-CTT-GTC c.2599_2601delinsGAC p.K867D Missense 25/30 - 1
17-42453202-T-A c.2600A>T p.K867M Missense 25/30 - 1
17-42453202-T-C c.2600A>G p.K867R Missense 25/30 - 1
17-42453202-T-G c.2600A>C p.K867T Missense 25/30 - 1
17-42453202-TT-AC c.2599_2600delinsGT p.K867V Missense 25/30 - 1
17-42453202-TT-AG c.2599_2600delinsCT p.K867L Missense 25/30 - 1
17-42453202-TT-CA c.2599_2600delinsTG p.K867W Missense 25/30 - 1
17-42453202-TT-CC c.2599_2600delinsGG p.K867G Missense 25/30 - 1
17-42453202-TT-GC c.2599_2600delinsGC p.K867A Missense 25/30 - 1
17-42453202-TT-GG c.2599_2600delinsCC p.K867P Missense 25/30 - 1
17-42453203-T-C c.2599A>G p.K867E Missense 25/30 - 1
17-42453203-T-G c.2599A>C p.K867Q Missense 25/30 - 1
17-42453204-GAG-CAT c.2596_2598delinsATG p.L866M Missense 25/30 - 1
17-42453204-GAG-CCA c.2596_2598delinsTGG p.L866W Missense 25/30 - 1
17-42453204-GAG-CTC c.2596_2598inv p.L866E Missense 25/30 - 1
17-42453204-GAG-CTT c.2596_2598delinsAAG p.L866K Missense 25/30 - 1
17-42453204-GA-TT c.2597_2598delinsAA p.L866Q Missense 25/30 - 1
17-42453205-A-C c.2597T>G p.L866R Missense 25/30 - 1
17-42453205-A-G c.2597T>C p.L866P Missense 25/30 - 2
17-42453205-AG-CA c.2596_2597delinsTG p.L866C Missense 25/30 - 1
17-42453205-AG-CC c.2596_2597delinsGG p.L866G Missense 25/30 - 1
17-42453205-AG-CT c.2596_2597inv p.L866S Missense 25/30 - 1
17-42453205-AG-GC c.2596_2597delinsGC p.L866A Missense 25/30 - 1
17-42453205-AG-GT c.2596_2597delinsAC p.L866T Missense 25/30 - 1
17-42453205-AG-TA c.2596_2597delinsTA p.L866Y Missense 25/30 - 1
17-42453205-AG-TC c.2596_2597delinsGA p.L866D Missense 25/30 - 1
17-42453205-AG-TT c.2596_2597delinsAA p.L866N Missense 25/30 - 1
17-42453205-A-T c.2597T>A p.L866H Missense 25/30 - 1
17-42453206-G-A c.2596C>T p.L866F Missense 25/30 - 1
17-42453206-G-C c.2596C>G p.L866V Missense 25/30 - 1
17-42453206-G-T c.2596C>A p.L866I Missense 25/30 - 1
17-42453207-AGG-CAT c.2593_2595delinsATG p.P865M Missense 25/30 - 1
17-42453207-AGG-CCA c.2593_2595delinsTGG p.P865W Missense 25/30 - 1
17-42453207-AGG-CTC c.2593_2595delinsGAG p.P865E Missense 25/30 - 1
17-42453207-AGG-CTT c.2593_2595delinsAAG p.P865K Missense 25/30 - 1
17-42453207-AG-TT c.2594_2595delinsAA p.P865Q Missense 25/30 - 1
17-42453208-G-A c.2594C>T p.P865L Missense 25/30 - 1
17-42453208-G-C c.2594C>G p.P865R Missense 25/30 - 1
17-42453208-GG-AA c.2593_2594delinsTT p.P865F Missense 25/30 - 1
17-42453208-GG-AC c.2593_2594delinsGT p.P865V Missense 25/30 - 1
17-42453208-GG-AT c.2593_2594delinsAT p.P865I Missense 25/30 - 1
17-42453208-GG-CA c.2593_2594delinsTG p.P865C Missense 25/30 - 1
17-42453208-GG-CC c.2593_2594inv p.P865G Missense 25/30 - 1
17-42453208-GG-TA c.2593_2594delinsTA p.P865Y Missense 25/30 - 1
17-42453208-GG-TC c.2593_2594delinsGA p.P865D Missense 25/30 - 1
17-42453208-GG-TT c.2593_2594delinsAA p.P865N Missense 25/30 - 1
17-42453208-G-T c.2594C>A p.P865H Missense 25/30 - 1
17-42453209-G-A c.2593C>T p.P865S Missense 25/30 - 1
17-42453209-G-C c.2593C>G p.P865A Missense 25/30 - 1
17-42453209-G-T c.2593C>A p.P865T Missense 25/30 - 1
17-42453210-G-C c.2592C>G p.N864K Missense 25/30 - 1
17-42453210-G-T c.2592C>A p.N864K Missense 25/30 - 1
17-42453210-GT-CA c.2591_2592delinsTG p.N864M Missense 25/30 - 1
17-42453210-GT-CC c.2591_2592delinsGG p.N864R Missense 25/30 - 1
17-42453210-GTT-CCA c.2590_2592delinsTGG p.N864W Missense 25/30 - 1
17-42453210-GTT-CTC c.2590_2592delinsGAG p.N864E Missense 25/30 - 1
17-42453210-GTT-TTG c.2590_2592delinsCAA p.N864Q Missense 25/30 - 1
17-42453211-T-A c.2591A>T p.N864I Missense 25/30 - 1
17-42453211-T-C c.2591A>G p.N864S Missense 25/30 - 1
17-42453211-T-G c.2591A>C p.N864T Missense 25/30 - 1
17-42453211-TT-AA c.2590_2591inv p.N864F Missense 25/30 - 1
17-42453211-TT-AC c.2590_2591delinsGT p.N864V Missense 25/30 - 1
17-42453211-TT-AG c.2590_2591delinsCT p.N864L Missense 25/30 - 1
17-42453211-TT-CA c.2590_2591delinsTG p.N864C Missense 25/30 - 1
17-42453211-TT-CC c.2590_2591delinsGG p.N864G Missense 25/30 - 1
17-42453211-TT-GC c.2590_2591delinsGC p.N864A Missense 25/30 - 1
17-42453211-TT-GG c.2590_2591delinsCC p.N864P Missense 25/30 - 1
17-42453212-T-A c.2590A>T p.N864Y Missense 25/30 - 1
17-42453212-T-C c.2590A>G p.N864D Missense 25/30 - 1
17-42453212-T-G c.2590A>C p.N864H Missense 25/30 - 1
17-42453213-G-A c.2589C>T p.V863= Synonymous 25/30 - 1
17-42453213-GAC-CAT c.2587_2589delinsATG p.V863M Missense 25/30 - 1
17-42453213-GAC-CCA c.2587_2589delinsTGG p.V863W Missense 25/30 - 1
17-42453213-GAC-CTT c.2587_2589delinsAAG p.V863K Missense 25/30 - 1
17-42453213-GA-CT c.2588_2589delinsAG p.V863E Missense 25/30 - 1
17-42453213-GAC-TTG c.2587_2589delinsCAA p.V863Q Missense 25/30 - 1
17-42453213-G-C c.2589C>G p.V863= Synonymous 25/30 - 1
17-42453213-G-T c.2589C>A p.V863= Synonymous 25/30 - 1
17-42453214-A-C c.2588T>G p.V863G Missense 25/30 - 1
17-42453214-AC-CA c.2587_2588delinsTG p.V863C Missense 25/30 - 1
17-42453214-AC-CG c.2587_2588delinsCG p.V863R Missense 25/30 - 1
17-42453214-AC-CT c.2587_2588delinsAG p.V863S Missense 25/30 - 1
17-42453214-AC-GG c.2587_2588delinsCC p.V863P Missense 25/30 - 1
17-42453214-AC-GT c.2587_2588inv p.V863T Missense 25/30 - 1
17-42453214-AC-TA c.2587_2588delinsTA p.V863Y Missense 25/30 - 1
17-42453214-AC-TG c.2587_2588delinsCA p.V863H Missense 25/30 - 1
17-42453214-AC-TT c.2587_2588delinsAA p.V863N Missense 25/30 - 1
17-42453214-A-G c.2588T>C p.V863A Missense 25/30 - 1
17-42453214-A-T c.2588T>A p.V863D Missense 25/30 - 1
17-42453215-C-A c.2587G>T p.V863F Missense 25/30 - 1
17-42453215-C-G c.2587G>C p.V863L Missense 25/30 - 1
17-42453215-C-T c.2587G>A p.V863I Missense 25/30 - 1
17-42453216-AGG-CAT c.2584_2586delinsATG p.P862M Missense 25/30 - 1
17-42453216-AGG-CCA c.2584_2586delinsTGG p.P862W Missense 25/30 - 1
17-42453216-AGG-CTC c.2584_2586delinsGAG p.P862E Missense 25/30 - 1
17-42453216-AGG-CTT c.2584_2586delinsAAG p.P862K Missense 25/30 - 1
17-42453216-AG-TT c.2585_2586delinsAA p.P862Q Missense 25/30 - 1
17-42453217-G-A c.2585C>T p.P862L Missense 25/30 - 1
17-42453217-G-C c.2585C>G p.P862R Missense 25/30 - 1
17-42453217-GG-AA c.2584_2585delinsTT p.P862F Missense 25/30 - 1
17-42453217-GG-AC c.2584_2585delinsGT p.P862V Missense 25/30 - 1
17-42453217-GG-AT c.2584_2585delinsAT p.P862I Missense 25/30 - 1
17-42453217-GG-CA c.2584_2585delinsTG p.P862C Missense 25/30 - 1
17-42453217-GG-CC c.2584_2585inv p.P862G Missense 25/30 - 1
17-42453217-GG-TA c.2584_2585delinsTA p.P862Y Missense 25/30 - 1
17-42453217-GG-TC c.2584_2585delinsGA p.P862D Missense 25/30 - 1
17-42453217-GG-TT c.2584_2585delinsAA p.P862N Missense 25/30 - 1
17-42453217-G-T c.2585C>A p.P862H Missense 25/30 - 1
17-42453218-G-A c.2584C>T p.P862S Missense 25/30 - 1
17-42453218-G-C c.2584C>G p.P862A Missense 25/30 - 1
17-42453218-G-T c.2584C>A p.P862T Missense 25/30 - 1
17-42453219-AGG-CAT c.2581_2583delinsATG p.P861M Missense 25/30 - 1
17-42453219-AGG-CCA c.2581_2583delinsTGG p.P861W Missense 25/30 - 1
17-42453219-AGG-CTC c.2581_2583delinsGAG p.P861E Missense 25/30 - 1
17-42453219-AGG-CTT c.2581_2583delinsAAG p.P861K Missense 25/30 - 1
17-42453219-AG-TT c.2582_2583delinsAA p.P861Q Missense 25/30 - 1
17-42453220-G-A c.2582C>T p.P861L Missense 25/30 - 1
17-42453220-G-C c.2582C>G p.P861R Missense 25/30 - 1
17-42453220-GG-AA c.2581_2582delinsTT p.P861F Missense 25/30 - 1
17-42453220-GG-AC c.2581_2582delinsGT p.P861V Missense 25/30 - 1
17-42453220-GG-AT c.2581_2582delinsAT p.P861I Missense 25/30 - 1
17-42453220-GG-CA c.2581_2582delinsTG p.P861C Missense 25/30 - 1
17-42453220-GG-CC c.2581_2582inv p.P861G Missense 25/30 - 1
17-42453220-GG-TA c.2581_2582delinsTA p.P861Y Missense 25/30 - 1
17-42453220-GG-TC c.2581_2582delinsGA p.P861D Missense 25/30 - 1
17-42453220-GG-TT c.2581_2582delinsAA p.P861N Missense 25/30 - 1
17-42453220-G-T c.2582C>A p.P861H Missense 25/30 - 1
17-42453221-G-A c.2581C>T p.P861S Missense 25/30 - 1
17-42453221-G-C c.2581C>G p.P861A Missense 25/30 - 1
17-42453221-G-T c.2581C>A p.P861T Missense 25/30 - 1
17-42453222-C-A c.2580G>T p.Q860H Missense 25/30 - 1
17-42453222-C-G c.2580G>C p.Q860H Missense 25/30 - 1
17-42453222-CTG-AAA c.2578_2580delinsTTT p.Q860F Missense 25/30 - 1
17-42453222-CTG-ACA c.2578_2580delinsTGT p.Q860C Missense 25/30 - 1
17-42453222-CTG-ATA c.2578_2580delinsTAT p.Q860Y Missense 25/30 - 1
17-42453222-CTG-GAT c.2578_2580delinsATC p.Q860I Missense 25/30 - 1
17-42453222-CTG-GTC c.2578_2580delinsGAC p.Q860D Missense 25/30 - 1
17-42453222-CTG-GTT c.2578_2580delinsAAC p.Q860N Missense 25/30 - 1
17-42453223-T-A c.2579A>T p.Q860L Missense 25/30 - 1
17-42453223-T-C c.2579A>G p.Q860R Missense 25/30 - 1
17-42453223-T-G c.2579A>C p.Q860P Missense 25/30 - 1
17-42453223-TG-AC c.2578_2579delinsGT p.Q860V Missense 25/30 - 1
17-42453223-TG-AT c.2578_2579delinsAT p.Q860M Missense 25/30 - 1
17-42453223-TG-CA c.2578_2579inv p.Q860W Missense 25/30 - 1
17-42453223-TG-CC c.2578_2579delinsGG p.Q860G Missense 25/30 - 1
17-42453223-TG-GA c.2578_2579delinsTC p.Q860S Missense 25/30 - 1
17-42453223-TG-GC c.2578_2579delinsGC p.Q860A Missense 25/30 - 1
17-42453223-TG-GT c.2578_2579delinsAC p.Q860T Missense 25/30 - 1
17-42453224-G-C c.2578C>G p.Q860E Missense 25/30 - 1
17-42453224-G-T c.2578C>A p.Q860K Missense 25/30 - 1
17-42453225-TG-AT c.2576_2577delinsAT p.P859H Missense 25/30 - 1
17-42453225-TGG-AAA c.2575_2577delinsTTT p.P859F Missense 25/30 - 1
17-42453225-TGG-ACA c.2575_2577delinsTGT p.P859C Missense 25/30 - 1
17-42453225-TGG-ATA c.2575_2577delinsTAT p.P859Y Missense 25/30 - 1
17-42453225-TGG-CAT c.2575_2577delinsATG p.P859M Missense 25/30 - 1
17-42453225-TGG-CCA c.2575_2577inv p.P859W Missense 25/30 - 1
17-42453225-TGG-GTC c.2575_2577delinsGAC p.P859D Missense 25/30 - 1
17-42453225-TGG-GTT c.2575_2577delinsAAC p.P859N Missense 25/30 - 1
17-42453226-G-A c.2576C>T p.P859L Missense 25/30 - 1
17-42453226-G-C c.2576C>G p.P859R Missense 25/30 - 1
17-42453226-GG-AC c.2575_2576delinsGT p.P859V Missense 25/30 - 1
17-42453226-GG-AT c.2575_2576delinsAT p.P859I Missense 25/30 - 1
17-42453226-GG-CC c.2575_2576inv p.P859G Missense 25/30 - 1
17-42453226-GG-TC c.2575_2576delinsGA p.P859E Missense 25/30 - 1
17-42453226-GG-TT c.2575_2576delinsAA p.P859K Missense 25/30 - 1
17-42453226-G-T c.2576C>A p.P859Q Missense 25/30 - 1
17-42453227-G-A c.2575C>T p.P859S Missense 25/30 - 1
17-42453227-G-C c.2575C>G p.P859A Missense 25/30 - 1
17-42453227-G-T c.2575C>A p.P859T Missense 25/30 - 2
17-42453228-GAA-CAT c.2572_2574delinsATG p.F858M Missense 25/30 - 1
17-42453228-GAA-CTC c.2572_2574delinsGAG p.F858E Missense 25/30 - 1
17-42453228-GAA-CTT c.2572_2574delinsAAG p.F858K Missense 25/30 - 1
17-42453228-GAA-TTG c.2572_2574delinsCAA p.F858Q Missense 25/30 - 1
17-42453228-GA-CC c.2573_2574delinsGG p.F858W Missense 25/30 - 1
17-42453229-AA-CC c.2572_2573delinsGG p.F858G Missense 25/30 - 1
17-42453229-AA-CG c.2572_2573delinsCG p.F858R Missense 25/30 - 1
17-42453229-AA-GC c.2572_2573delinsGC p.F858A Missense 25/30 - 1
17-42453229-AA-GG c.2572_2573delinsCC p.F858P Missense 25/30 - 1
17-42453229-AA-GT c.2572_2573delinsAC p.F858T Missense 25/30 - 1
17-42453229-AA-TC c.2572_2573delinsGA p.F858D Missense 25/30 - 1
17-42453229-AA-TG c.2572_2573delinsCA p.F858H Missense 25/30 - 1
17-42453229-AA-TT c.2572_2573inv p.F858N Missense 25/30 - 1
17-42453229-A-C c.2573T>G p.F858C Missense 25/30 - 1
17-42453229-A-G c.2573T>C p.F858S Missense 25/30 - 1
17-42453229-A-T c.2573T>A p.F858Y Missense 25/30 - 1
17-42453228-G-C c.2574C>G p.F858L Missense 25/30 - 1
17-42453228-G-T c.2574C>A p.F858L Missense 25/30 - 1
17-42453230-A-C c.2572T>G p.F858V Missense 25/30 - 1
17-42453230-A-G c.2572T>C p.F858L Missense 25/30 - 1
17-42453230-A-T c.2572T>A p.F858I Missense 25/30 - 1
17-42453231-G-A c.2571C>T p.C857= Synonymous 25/30 - 1
17-42453231-G-C c.2571C>G p.C857W Missense 25/30 - 1
17-42453231-GCA-CAT c.2569_2571delinsATG p.C857M Missense 25/30 - 1
17-42453231-GCA-CTC c.2569_2571delinsGAG p.C857E Missense 25/30 - 1
17-42453231-GCA-CTT c.2569_2571delinsAAG p.C857K Missense 25/30 - 1
17-42453231-GCA-TTG c.2569_2571delinsCAA p.C857Q Missense 25/30 - 1
17-42453232-C-A c.2570G>T p.C857F Missense 25/30 - 2
17-42453232-CA-AC c.2569_2570delinsGT p.C857V Missense 25/30 - 1
17-42453232-CA-AG c.2569_2570delinsCT p.C857L Missense 25/30 - 1
17-42453232-CA-AT c.2569_2570delinsAT p.C857I Missense 25/30 - 1
17-42453232-CA-GC c.2569_2570delinsGC p.C857A Missense 25/30 - 1
17-42453232-CA-GG c.2569_2570delinsCC p.C857P Missense 25/30 - 1
17-42453232-CA-GT c.2569_2570delinsAC p.C857T Missense 25/30 - 1
17-42453232-CA-TC c.2569_2570delinsGA p.C857D Missense 25/30 - 1
17-42453232-CA-TG c.2569_2570inv p.C857H Missense 25/30 - 1
17-42453232-CA-TT c.2569_2570delinsAA p.C857N Missense 25/30 - 1
17-42453232-C-T c.2570G>A p.C857Y Missense 25/30 - 2
17-42453232-C-G c.2570G>C p.C857S Missense 25/30 - 1
17-42453233-A-C c.2569T>G p.C857G Missense 25/30 - 1
17-42453233-A-G c.2569T>C p.C857R Missense 25/30 - 1
17-42453233-A-T c.2569T>A p.C857S Missense 25/30 - 1
17-42453234-C-A c.2568G>T p.Q856H Missense 25/30 - 1
17-42453234-C-G c.2568G>C p.Q856H Missense 25/30 - 1
17-42453234-CTG-AAA c.2566_2568delinsTTT p.Q856F Missense 25/30 - 1
17-42453234-CTG-ACA c.2566_2568delinsTGT p.Q856C Missense 25/30 - 1
17-42453234-CTG-ATA c.2566_2568delinsTAT p.Q856Y Missense 25/30 - 1
17-42453234-CTG-GAT c.2566_2568delinsATC p.Q856I Missense 25/30 - 1
17-42453234-CTG-GTC c.2566_2568delinsGAC p.Q856D Missense 25/30 - 1
17-42453234-CTG-GTT c.2566_2568delinsAAC p.Q856N Missense 25/30 - 1
17-42453235-T-A c.2567A>T p.Q856L Missense 25/30 - 1
17-42453235-T-C c.2567A>G p.Q856R Missense 25/30 - 1
17-42453235-T-G c.2567A>C p.Q856P Missense 25/30 - 1
17-42453235-TG-AC c.2566_2567delinsGT p.Q856V Missense 25/30 - 1
17-42453235-TG-AT c.2566_2567delinsAT p.Q856M Missense 25/30 - 1
17-42453235-TG-CA c.2566_2567inv p.Q856W Missense 25/30 - 1
17-42453235-TG-CC c.2566_2567delinsGG p.Q856G Missense 25/30 - 1
17-42453235-TG-GA c.2566_2567delinsTC p.Q856S Missense 25/30 - 1
17-42453235-TG-GC c.2566_2567delinsGC p.Q856A Missense 25/30 - 1
17-42453235-TG-GT c.2566_2567delinsAC p.Q856T Missense 25/30 - 1
17-42453236-G-C c.2566C>G p.Q856E Missense 25/30 - 1
17-42453236-G-T c.2566C>A p.Q856K Missense 25/30 - 1
17-42453237-AAG-CAT c.2563_2565delinsATG p.L855M Missense 25/30 - 1
17-42453237-AAG-CCA c.2563_2565delinsTGG p.L855W Missense 25/30 - 1
17-42453237-AAG-CTC c.2563_2565delinsGAG p.L855E Missense 25/30 - 1
17-42453237-AAG-CTT c.2563_2565inv p.L855K Missense 25/30 - 1
17-42453237-AA-TT c.2564_2565inv p.L855Q Missense 25/30 - 1
17-42453237-A-C c.2565T>G p.L855= Synonymous 25/30 - 1
17-42453238-A-C c.2564T>G p.L855R Missense 25/30 - 1
17-42453238-A-G c.2564T>C p.L855P Missense 25/30 - 1
17-42453238-AG-CA c.2563_2564delinsTG p.L855C Missense 25/30 - 1
17-42453238-AG-CC c.2563_2564delinsGG p.L855G Missense 25/30 - 1
17-42453238-AG-CT c.2563_2564inv p.L855S Missense 25/30 - 1
17-42453238-AG-GC c.2563_2564delinsGC p.L855A Missense 25/30 - 1
17-42453238-AG-GT c.2563_2564delinsAC p.L855T Missense 25/30 - 1
17-42453238-AG-TA c.2563_2564delinsTA p.L855Y Missense 25/30 - 1
17-42453238-AG-TC c.2563_2564delinsGA p.L855D Missense 25/30 - 1
17-42453238-AG-TT c.2563_2564delinsAA p.L855N Missense 25/30 - 1
17-42453238-A-T c.2564T>A p.L855H Missense 25/30 - 1
17-42453239-G-A c.2563C>T p.L855F Missense 25/30 - 1
17-42453239-G-C c.2563C>G p.L855V Missense 25/30 - 1
17-42453239-G-T c.2563C>A p.L855I Missense 25/30 - 1
17-42453240-GCC-CAT c.2560_2562delinsATG p.G854M Missense 25/30 - 1
17-42453240-GCC-CCA c.2560_2562delinsTGG p.G854W Missense 25/30 - 1
17-42453240-GCC-CTT c.2560_2562delinsAAG p.G854K Missense 25/30 - 1
17-42453240-GC-CT c.2561_2562delinsAG p.G854E Missense 25/30 - 1
17-42453240-GCC-TTG c.2560_2562delinsCAA p.G854Q Missense 25/30 - 1
17-42453241-C-A c.2561G>T p.G854V Missense 25/30 - 1
17-42453241-CC-AA c.2560_2561delinsTT p.G854F Missense 25/30 - 1
17-42453241-CC-AG c.2560_2561delinsCT p.G854L Missense 25/30 - 1
17-42453241-CC-AT c.2560_2561delinsAT p.G854I Missense 25/30 - 1
17-42453241-CC-GG c.2560_2561inv p.G854P Missense 25/30 - 1
17-42453241-CC-GT c.2560_2561delinsAC p.G854T Missense 25/30 - 1
17-42453241-CC-TA c.2560_2561delinsTA p.G854Y Missense 25/30 - 1
17-42453241-CC-TG c.2560_2561delinsCA p.G854H Missense 25/30 - 1
17-42453241-CC-TT c.2560_2561delinsAA p.G854N Missense 25/30 - 1
17-42453241-C-G c.2561G>C p.G854A Missense 25/30 - 1
17-42453241-C-T c.2561G>A p.G854D Missense 25/30 - 1
17-42453242-C-A c.2560G>T p.G854C Missense 25/30 - 1
17-42453242-C-G c.2560G>C p.G854R Missense 25/30 - 1
17-42453242-C-T c.2560G>A p.G854S Missense 25/30 - 1
17-42453243-CCC-AAA c.2557_2559delinsTTT p.G853F Missense 25/30 - 1
17-42453243-CCC-ACA c.2557_2559delinsTGT p.G853C Missense 25/30 - 1
17-42453243-CCC-ATA c.2557_2559delinsTAT p.G853Y Missense 25/30 - 1
17-42453243-CCC-ATG c.2557_2559delinsCAT p.G853H Missense 25/30 - 1
17-42453243-CCC-GAT c.2557_2559delinsATC p.G853I Missense 25/30 - 1
17-42453243-CCC-GCT c.2557_2559delinsAGC p.G853S Missense 25/30 - 1
17-42453243-CCC-GTT c.2557_2559delinsAAC p.G853N Missense 25/30 - 1
17-42453243-CC-GT c.2558_2559delinsAC p.G853D Missense 25/30 - 1
17-42453244-C-A c.2558G>T p.G853V Missense 25/30 - 1
17-42453244-CC-AG c.2557_2558delinsCT p.G853L Missense 25/30 - 1
17-42453244-CC-AT c.2557_2558delinsAT p.G853M Missense 25/30 - 1
17-42453244-CC-GG c.2557_2558inv p.G853P Missense 25/30 - 1
17-42453244-CC-GT c.2557_2558delinsAC p.G853T Missense 25/30 - 1
17-42453244-CC-TG c.2557_2558delinsCA p.G853Q Missense 25/30 - 1
17-42453244-CC-TT c.2557_2558delinsAA p.G853K Missense 25/30 - 1
17-42453244-C-G c.2558G>C p.G853A Missense 25/30 - 1
17-42453244-C-T c.2558G>A p.G853E Missense 25/30 - 2
17-42453245-C-A c.2557G>T p.G853W Missense 25/30 - 1
17-42453245-C-G c.2557G>C p.G853R Missense 25/30 - 1
17-42453245-C-T c.2557G>A p.G853R Missense 25/30 - 2
17-42453246-C-A c.2556G>T p.Q852H Missense 25/30 - 1
17-42453246-C-G c.2556G>C p.Q852H Missense 25/30 - 1
17-42453246-CTG-AAA c.2554_2556delinsTTT p.Q852F Missense 25/30 - 1
17-42453246-CTG-ACA c.2554_2556delinsTGT p.Q852C Missense 25/30 - 1
17-42453246-CTG-ATA c.2554_2556delinsTAT p.Q852Y Missense 25/30 - 1
17-42453246-CTG-GAT c.2554_2556delinsATC p.Q852I Missense 25/30 - 1
17-42453246-CTG-GTC c.2554_2556delinsGAC p.Q852D Missense 25/30 - 1
17-42453246-CTG-GTT c.2554_2556delinsAAC p.Q852N Missense 25/30 - 1
17-42453247-T-A c.2555A>T p.Q852L Missense 25/30 - 2
17-42453247-T-C c.2555A>G p.Q852R Missense 25/30 - 1
17-42453247-T-G c.2555A>C p.Q852P Missense 25/30 - 1
17-42453247-TG-AC c.2554_2555delinsGT p.Q852V Missense 25/30 - 1
17-42453247-TG-AT c.2554_2555delinsAT p.Q852M Missense 25/30 - 1
17-42453247-TG-CA c.2554_2555inv p.Q852W Missense 25/30 - 1
17-42453247-TG-CC c.2554_2555delinsGG p.Q852G Missense 25/30 - 1
17-42453247-TG-GA c.2554_2555delinsTC p.Q852S Missense 25/30 - 1
17-42453247-TG-GC c.2554_2555delinsGC p.Q852A Missense 25/30 - 1
17-42453247-TG-GT c.2554_2555delinsAC p.Q852T Missense 25/30 - 1
17-42453248-G-C c.2554C>G p.Q852E Missense 25/30 - 1
17-42453248-G-T c.2554C>A p.Q852K Missense 25/30 - 1
17-42453249-GGG-CAT c.2551_2553delinsATG p.P851M Missense 25/30 - 1
17-42453249-GGG-CCA c.2551_2553delinsTGG p.P851W Missense 25/30 - 1
17-42453249-GGG-CTC c.2551_2553delinsGAG p.P851E Missense 25/30 - 1
17-42453249-GGG-CTT c.2551_2553delinsAAG p.P851K Missense 25/30 - 1
17-42453249-GG-TT c.2552_2553delinsAA p.P851Q Missense 25/30 - 1
17-42453250-G-A c.2552C>T p.P851L Missense 25/30 - 1
17-42453250-G-C c.2552C>G p.P851R Missense 25/30 - 1
17-42453250-GG-AA c.2551_2552delinsTT p.P851F Missense 25/30 - 1
17-42453250-GG-AC c.2551_2552delinsGT p.P851V Missense 25/30 - 1
17-42453250-GG-AT c.2551_2552delinsAT p.P851I Missense 25/30 - 1
17-42453250-GG-CA c.2551_2552delinsTG p.P851C Missense 25/30 - 1
17-42453250-GG-CC c.2551_2552inv p.P851G Missense 25/30 - 1
17-42453250-GG-TA c.2551_2552delinsTA p.P851Y Missense 25/30 - 1
17-42453250-GG-TC c.2551_2552delinsGA p.P851D Missense 25/30 - 1
17-42453250-GG-TT c.2551_2552delinsAA p.P851N Missense 25/30 - 1
17-42453250-G-T c.2552C>A p.P851H Missense 25/30 - 1
17-42453251-G-A c.2551C>T p.P851S Missense 25/30 - 2
17-42453251-G-C c.2551C>G p.P851A Missense 25/30 - 1
17-42453251-G-T c.2551C>A p.P851T Missense 25/30 - 1
17-42453252-C-A c.2550G>T p.Q850H Missense 25/30 - 1
17-42453252-C-G c.2550G>C p.Q850H Missense 25/30 - 1
17-42453252-CTG-AAA c.2548_2550delinsTTT p.Q850F Missense 25/30 - 1
17-42453252-CTG-ACA c.2548_2550delinsTGT p.Q850C Missense 25/30 - 1
17-42453252-CTG-ATA c.2548_2550delinsTAT p.Q850Y Missense 25/30 - 1
17-42453252-CTG-GAT c.2548_2550delinsATC p.Q850I Missense 25/30 - 1
17-42453252-CTG-GTC c.2548_2550delinsGAC p.Q850D Missense 25/30 - 1
17-42453252-CTG-GTT c.2548_2550delinsAAC p.Q850N Missense 25/30 - 1
17-42453253-T-A c.2549A>T p.Q850L Missense 25/30 - 1
17-42453253-T-C c.2549A>G p.Q850R Missense 25/30 - 1
17-42453253-T-G c.2549A>C p.Q850P Missense 25/30 - 1
17-42453253-TG-AC c.2548_2549delinsGT p.Q850V Missense 25/30 - 1
17-42453253-TG-AT c.2548_2549delinsAT p.Q850M Missense 25/30 - 1
17-42453253-TG-CA c.2548_2549inv p.Q850W Missense 25/30 - 1
17-42453253-TG-CC c.2548_2549delinsGG p.Q850G Missense 25/30 - 1
17-42453253-TG-GA c.2548_2549delinsTC p.Q850S Missense 25/30 - 1
17-42453253-TG-GC c.2548_2549delinsGC p.Q850A Missense 25/30 - 1
17-42453253-TG-GT c.2548_2549delinsAC p.Q850T Missense 25/30 - 1
17-42453254-G-A c.2548C>T p.Q850* Nonsense 25/30 - 2
17-42453254-G-C c.2548C>G p.Q850E Missense 25/30 - 1
17-42453254-G-T c.2548C>A p.Q850K Missense 25/30 - 1
17-42453255-TA-GC c.2546_2547delinsGC p.I849S Missense 25/30 - 1
17-42453255-TA-GT c.2546_2547delinsAC p.I849N Missense 25/30 - 1
17-42453255-TAT-AAA c.2545_2547delinsTTT p.I849F Missense 25/30 - 1
17-42453255-TAT-ACA c.2545_2547delinsTGT p.I849C Missense 25/30 - 1
17-42453255-TAT-ATA c.2545_2547inv p.I849Y Missense 25/30 - 1
17-42453255-TAT-ATG c.2545_2547delinsCAT p.I849H Missense 25/30 - 1
17-42453255-TAT-CCA c.2545_2547delinsTGG p.I849W Missense 25/30 - 1
17-42453255-TAT-GTC c.2545_2547delinsGAC p.I849D Missense 25/30 - 1
17-42453255-T-C c.2547A>G p.I849M Missense 25/30 - 1
17-42453256-A-C c.2546T>G p.I849R Missense 25/30 - 1
17-42453256-A-G c.2546T>C p.I849T Missense 25/30 - 1
17-42453256-A-T c.2546T>A p.I849K Missense 25/30 - 1
17-42453256-AT-CC c.2545_2546delinsGG p.I849G Missense 25/30 - 1
17-42453256-AT-GC c.2545_2546delinsGC p.I849A Missense 25/30 - 1
17-42453256-AT-GG c.2545_2546delinsCC p.I849P Missense 25/30 - 1
17-42453256-AT-TC c.2545_2546delinsGA p.I849E Missense 25/30 - 1
17-42453256-AT-TG c.2545_2546delinsCA p.I849Q Missense 25/30 - 1
17-42453257-T-A c.2545A>T p.I849L Missense 25/30 - 1
17-42453257-T-C c.2545A>G p.I849V Missense 25/30 - 1
17-42453257-T-G c.2545A>C p.I849L Missense 25/30 - 1
17-42453258-A-C c.2544T>G p.D848E Missense 25/30 - 1
17-42453258-A-T c.2544T>A p.D848E Missense 25/30 - 1
17-42453258-ATC-CAT c.2542_2544delinsATG p.D848M Missense 25/30 - 1
17-42453258-ATC-CCA c.2542_2544delinsTGG p.D848W Missense 25/30 - 1
17-42453258-ATC-CTT c.2542_2544delinsAAG p.D848K Missense 25/30 - 1
17-42453258-ATC-TTG c.2542_2544delinsCAA p.D848Q Missense 25/30 - 1
17-42453259-T-A c.2543A>T p.D848V Missense 25/30 - 1
17-42453259-T-C c.2543A>G p.D848G Missense 25/30 - 1
17-42453259-TC-AA c.2542_2543delinsTT p.D848F Missense 25/30 - 1
17-42453259-TC-AG c.2542_2543delinsCT p.D848L Missense 25/30 - 1
17-42453259-TC-AT c.2542_2543delinsAT p.D848I Missense 25/30 - 1
17-42453259-TC-CA c.2542_2543delinsTG p.D848C Missense 25/30 - 1
17-42453259-TC-CG c.2542_2543delinsCG p.D848R Missense 25/30 - 1
17-42453259-TC-CT c.2542_2543delinsAG p.D848S Missense 25/30 - 1
17-42453259-TC-GG c.2542_2543delinsCC p.D848P Missense 25/30 - 1
17-42453259-TC-GT c.2542_2543delinsAC p.D848T Missense 25/30 - 1
17-42453259-T-G c.2543A>C p.D848A Missense 25/30 - 1
17-42453260-C-A c.2542G>T p.D848Y Missense 25/30 - 1
17-42453260-C-G c.2542G>C p.D848H Missense 25/30 - 1
17-42453260-C-T c.2542G>A p.D848N Missense 25/30 - 1
17-42453261-CA-AT c.2540_2541delinsAT p.L847H Missense 25/30 - 1
17-42453261-CAG-AAA c.2539_2541delinsTTT p.L847F Missense 25/30 - 1
17-42453261-CAG-ACA c.2539_2541delinsTGT p.L847C Missense 25/30 - 1
17-42453261-CAG-ATA c.2539_2541delinsTAT p.L847Y Missense 25/30 - 1
17-42453261-CAG-GAT c.2539_2541delinsATC p.L847I Missense 25/30 - 1
17-42453261-CAG-GTC c.2539_2541delinsGAC p.L847D Missense 25/30 - 1
17-42453261-CAG-GTT c.2539_2541delinsAAC p.L847N Missense 25/30 - 1
17-42453262-A-C c.2540T>G p.L847R Missense 25/30 - 1
17-42453262-A-G c.2540T>C p.L847P Missense 25/30 - 2
17-42453262-AG-CA c.2539_2540delinsTG p.L847W Missense 25/30 - 1
17-42453262-AG-CC c.2539_2540delinsGG p.L847G Missense 25/30 - 1
17-42453262-AG-GA c.2539_2540delinsTC p.L847S Missense 25/30 - 1
17-42453262-AG-GC c.2539_2540delinsGC p.L847A Missense 25/30 - 1
17-42453262-AG-GT c.2539_2540delinsAC p.L847T Missense 25/30 - 1
17-42453262-AG-TC c.2539_2540delinsGA p.L847E Missense 25/30 - 1
17-42453262-AG-TT c.2539_2540delinsAA p.L847K Missense 25/30 - 1
17-42453262-A-T c.2540T>A p.L847Q Missense 25/30 - 1
17-42453263-G-C c.2539C>G p.L847V Missense 25/30 - 1
17-42453263-G-T c.2539C>A p.L847M Missense 25/30 - 2
17-42453264-GA-CC c.2537_2538delinsGG p.I846R Missense 25/30 - 1
17-42453264-GA-CT c.2537_2538delinsAG p.I846K Missense 25/30 - 1
17-42453264-GAT-CCA c.2536_2538delinsTGG p.I846W Missense 25/30 - 1
17-42453264-GAT-CTC c.2536_2538delinsGAG p.I846E Missense 25/30 - 1
17-42453264-GAT-TTG c.2536_2538delinsCAA p.I846Q Missense 25/30 - 1
17-42453264-G-C c.2538C>G p.I846M Missense 25/30 - 1
17-42453265-A-C c.2537T>G p.I846S Missense 25/30 - 1
17-42453265-A-G c.2537T>C p.I846T Missense 25/30 - 1
17-42453265-A-T c.2537T>A p.I846N Missense 25/30 - 1
17-42453265-AT-CA c.2536_2537delinsTG p.I846C Missense 25/30 - 1
17-42453265-AT-CC c.2536_2537delinsGG p.I846G Missense 25/30 - 1
17-42453265-AT-GC c.2536_2537delinsGC p.I846A Missense 25/30 - 1
17-42453265-AT-GG c.2536_2537delinsCC p.I846P Missense 25/30 - 1
17-42453265-AT-TA c.2536_2537delinsTA p.I846Y Missense 25/30 - 1
17-42453265-AT-TC c.2536_2537delinsGA p.I846D Missense 25/30 - 1
17-42453265-AT-TG c.2536_2537delinsCA p.I846H Missense 25/30 - 1
17-42453266-T-A c.2536A>T p.I846F Missense 25/30 - 1
17-42453266-T-C c.2536A>G p.I846V Missense 25/30 - 1
17-42453266-T-G c.2536A>C p.I846L Missense 25/30 - 1
17-42453267-GTA-CAT c.2533_2535delinsATG p.Y845M Missense 25/30 - 1
17-42453267-GTA-CTC c.2533_2535delinsGAG p.Y845E Missense 25/30 - 1
17-42453267-GTA-CTT c.2533_2535delinsAAG p.Y845K Missense 25/30 - 1
17-42453267-GTA-TTG c.2533_2535delinsCAA p.Y845Q Missense 25/30 - 1
17-42453267-GT-CC c.2534_2535delinsGG p.Y845W Missense 25/30 - 1
17-42453268-T-A c.2534A>T p.Y845F Missense 25/30 - 1
17-42453268-TA-AC c.2533_2534delinsGT p.Y845V Missense 25/30 - 1
17-42453268-TA-AG c.2533_2534delinsCT p.Y845L Missense 25/30 - 1
17-42453268-TA-AT c.2533_2534delinsAT p.Y845I Missense 25/30 - 1
17-42453268-TA-CC c.2533_2534delinsGG p.Y845G Missense 25/30 - 1
17-42453268-TA-CG c.2533_2534delinsCG p.Y845R Missense 25/30 - 1
17-42453268-TA-GC c.2533_2534delinsGC p.Y845A Missense 25/30 - 1
17-42453268-TA-GG c.2533_2534delinsCC p.Y845P Missense 25/30 - 1
17-42453268-TA-GT c.2533_2534delinsAC p.Y845T Missense 25/30 - 1
17-42453268-T-C c.2534A>G p.Y845C Missense 25/30 - 1
17-42453268-T-G c.2534A>C p.Y845S Missense 25/30 - 1
17-42453269-A-C c.2533T>G p.Y845D Missense 25/30 - 1
17-42453269-A-G c.2533T>C p.Y845H Missense 25/30 - 4
17-42453269-A-T c.2533T>A p.Y845N Missense 25/30 - 1
17-42453270-GAG-CAT c.2530_2532delinsATG p.L844M Missense 25/30 - 1
17-42453270-GAG-CCA c.2530_2532delinsTGG p.L844W Missense 25/30 - 1
17-42453270-GAG-CTC c.2530_2532inv p.L844E Missense 25/30 - 1
17-42453270-GAG-CTT c.2530_2532delinsAAG p.L844K Missense 25/30 - 1
17-42453270-GA-TT c.2531_2532delinsAA p.L844Q Missense 25/30 - 1
17-42453271-A-C c.2531T>G p.L844R Missense 25/30 - 1
17-42453271-A-G c.2531T>C p.L844P Missense 25/30 - 1
17-42453271-AG-CA c.2530_2531delinsTG p.L844C Missense 25/30 - 1
17-42453271-AG-CC c.2530_2531delinsGG p.L844G Missense 25/30 - 1
17-42453271-AG-CT c.2530_2531inv p.L844S Missense 25/30 - 1
17-42453271-AG-GC c.2530_2531delinsGC p.L844A Missense 25/30 - 1
17-42453271-AG-GT c.2530_2531delinsAC p.L844T Missense 25/30 - 1
17-42453271-AG-TA c.2530_2531delinsTA p.L844Y Missense 25/30 - 1
17-42453271-AG-TC c.2530_2531delinsGA p.L844D Missense 25/30 - 1
17-42453271-AG-TT c.2530_2531delinsAA p.L844N Missense 25/30 - 1
17-42453271-A-T c.2531T>A p.L844H Missense 25/30 - 1
17-42453272-G-A c.2530C>T p.L844F Missense 25/30 - 2
17-42453272-G-C c.2530C>G p.L844V Missense 25/30 - 1
17-42453272-G-T c.2530C>A p.L844I Missense 25/30 - 1
17-42453273-C-A c.2529G>T p.L843= Synonymous 25/30 - 1
17-42453273-CA-AT c.2528_2529delinsAT p.L843H Missense 25/30 - 1
17-42453273-CAG-AAA c.2527_2529delinsTTT p.L843F Missense 25/30 - 1
17-42453273-CAG-ACA c.2527_2529delinsTGT p.L843C Missense 25/30 - 1
17-42453273-CAG-ATA c.2527_2529delinsTAT p.L843Y Missense 25/30 - 1
17-42453273-CAG-GAT c.2527_2529delinsATC p.L843I Missense 25/30 - 1
17-42453273-CAG-GTC c.2527_2529delinsGAC p.L843D Missense 25/30 - 1
17-42453273-CAG-GTT c.2527_2529delinsAAC p.L843N Missense 25/30 - 1
17-42453273-C-G c.2529G>C p.L843= Synonymous 25/30 - 1
17-42453273-C-T c.2529G>A p.L843= Synonymous 25/30 - 1
17-42453275-G-A c.2527C>T p.L843= Synonymous 25/30 - 1
17-42453274-A-C c.2528T>G p.L843R Missense 25/30 - 1
17-42453274-A-G c.2528T>C p.L843P Missense 25/30 - 1
17-42453274-AG-CA c.2527_2528delinsTG p.L843W Missense 25/30 - 1
17-42453274-AG-CC c.2527_2528delinsGG p.L843G Missense 25/30 - 1
17-42453274-AG-GA c.2527_2528delinsTC p.L843S Missense 25/30 - 1
17-42453274-AG-GC c.2527_2528delinsGC p.L843A Missense 25/30 - 1
17-42453274-AG-GT c.2527_2528delinsAC p.L843T Missense 25/30 - 1
17-42453274-AG-TC c.2527_2528delinsGA p.L843E Missense 25/30 - 1
17-42453274-AG-TT c.2527_2528delinsAA p.L843K Missense 25/30 - 1
17-42453274-A-T c.2528T>A p.L843Q Missense 25/30 - 1
17-42453275-G-C c.2527C>G p.L843V Missense 25/30 - 1
17-42453275-G-T c.2527C>A p.L843M Missense 25/30 - 1
17-42453276-G-C c.2526C>G p.D842E Missense 25/30 - 1
17-42453276-G-T c.2526C>A p.D842E Missense 25/30 - 1
17-42453276-GTC-CAT c.2524_2526delinsATG p.D842M Missense 25/30 - 1
17-42453276-GTC-CCA c.2524_2526delinsTGG p.D842W Missense 25/30 - 1
17-42453276-GTC-CTT c.2524_2526delinsAAG p.D842K Missense 25/30 - 1
17-42453276-GTC-TTG c.2524_2526delinsCAA p.D842Q Missense 25/30 - 1
17-42453277-T-A c.2525A>T p.D842V Missense 25/30 - 2
17-42453277-T-C c.2525A>G p.D842G Missense 25/30 - 1
17-42453277-TC-AA c.2524_2525delinsTT p.D842F Missense 25/30 - 1
17-42453277-TC-AG c.2524_2525delinsCT p.D842L Missense 25/30 - 1
17-42453277-TC-AT c.2524_2525delinsAT p.D842I Missense 25/30 - 1
17-42453277-TC-CA c.2524_2525delinsTG p.D842C Missense 25/30 - 1
17-42453277-TC-CG c.2524_2525delinsCG p.D842R Missense 25/30 - 1
17-42453277-TC-CT c.2524_2525delinsAG p.D842S Missense 25/30 - 1
17-42453277-TC-GG c.2524_2525delinsCC p.D842P Missense 25/30 - 1
17-42453277-TC-GT c.2524_2525delinsAC p.D842T Missense 25/30 - 1
17-42453277-T-G c.2525A>C p.D842A Missense 25/30 - 1
17-42453278-C-A c.2524G>T p.D842Y Missense 25/30 - 1
17-42453278-C-G c.2524G>C p.D842H Missense 25/30 - 1
17-42453278-C-T c.2524G>A p.D842N Missense 25/30 - 4
17-42453279-GGA-CAT c.2521_2523delinsATG p.S841M Missense 25/30 - 1
17-42453279-GGA-CTC c.2521_2523delinsGAG p.S841E Missense 25/30 - 1
17-42453279-GGA-CTT c.2521_2523delinsAAG p.S841K Missense 25/30 - 1
17-42453279-GGA-TTG c.2521_2523delinsCAA p.S841Q Missense 25/30 - 1
17-42453279-GG-CC c.2522_2523inv p.S841W Missense 25/30 - 1
17-42453280-G-A c.2522C>T p.S841F Missense 25/30 - 1
17-42453280-GA-AC c.2521_2522delinsGT p.S841V Missense 25/30 - 1
17-42453280-GA-AG c.2521_2522delinsCT p.S841L Missense 25/30 - 1
17-42453280-GA-AT c.2521_2522delinsAT p.S841I Missense 25/30 - 1
17-42453280-GA-CC c.2521_2522delinsGG p.S841G Missense 25/30 - 1
17-42453280-GA-CG c.2521_2522delinsCG p.S841R Missense 25/30 - 1
17-42453280-GA-TC c.2521_2522inv p.S841D Missense 25/30 - 1
17-42453280-GA-TG c.2521_2522delinsCA p.S841H Missense 25/30 - 1
17-42453280-GA-TT c.2521_2522delinsAA p.S841N Missense 25/30 - 1
17-42453280-G-C c.2522C>G p.S841C Missense 25/30 - 1
17-42453280-G-T c.2522C>A p.S841Y Missense 25/30 - 1
17-42453281-A-C c.2521T>G p.S841A Missense 25/30 - 1
17-42453281-A-G c.2521T>C p.S841P Missense 25/30 - 2
17-42453281-A-T c.2521T>A p.S841T Missense 25/30 - 1
17-42453282-GGG-CAT c.2518_2520delinsATG p.P840M Missense 25/30 - 1
17-42453282-GGG-CCA c.2518_2520delinsTGG p.P840W Missense 25/30 - 1
17-42453282-GGG-CTC c.2518_2520delinsGAG p.P840E Missense 25/30 - 1
17-42453282-GGG-CTT c.2518_2520delinsAAG p.P840K Missense 25/30 - 1
17-42453282-GG-TT c.2519_2520delinsAA p.P840Q Missense 25/30 - 1
17-42453283-G-A c.2519C>T p.P840L Missense 25/30 - 1
17-42453283-G-C c.2519C>G p.P840R Missense 25/30 - 1
17-42453283-GG-AA c.2518_2519delinsTT p.P840F Missense 25/30 - 1
17-42453283-GG-AC c.2518_2519delinsGT p.P840V Missense 25/30 - 1
17-42453283-GG-AT c.2518_2519delinsAT p.P840I Missense 25/30 - 1
17-42453283-GG-CA c.2518_2519delinsTG p.P840C Missense 25/30 - 1
17-42453283-GG-CC c.2518_2519inv p.P840G Missense 25/30 - 1
17-42453283-GG-TA c.2518_2519delinsTA p.P840Y Missense 25/30 - 1
17-42453283-GG-TC c.2518_2519delinsGA p.P840D Missense 25/30 - 1
17-42453283-GG-TT c.2518_2519delinsAA p.P840N Missense 25/30 - 1
17-42453283-G-T c.2519C>A p.P840H Missense 25/30 - 1
17-42453281-AG-A c.2520del p.S841Pfs*69 Frameshift 25/30 - 1
17-42453284-G-A c.2518C>T p.P840S Missense 25/30 - 2
17-42453284-G-C c.2518C>G p.P840A Missense 25/30 - 1
17-42453284-G-T c.2518C>A p.P840T Missense 25/30 - 1
17-42453285-C-A c.2517G>T p.Q839H Missense 25/30 - 1
17-42453285-C-G c.2517G>C p.Q839H Missense 25/30 - 1
17-42453285-C-T c.2517G>A p.Q839= Synonymous 25/30 - 2
17-42453285-CTG-AAA c.2515_2517delinsTTT p.Q839F Missense 25/30 - 1
17-42453285-CTG-ACA c.2515_2517delinsTGT p.Q839C Missense 25/30 - 1
17-42453285-CTG-ATA c.2515_2517delinsTAT p.Q839Y Missense 25/30 - 1
17-42453285-CTG-GAT c.2515_2517delinsATC p.Q839I Missense 25/30 - 1
17-42453285-CTG-GTC c.2515_2517delinsGAC p.Q839D Missense 25/30 - 1
17-42453285-CTG-GTT c.2515_2517delinsAAC p.Q839N Missense 25/30 - 1
17-42453286-T-A c.2516A>T p.Q839L Missense 25/30 - 1
17-42453286-T-C c.2516A>G p.Q839R Missense 25/30 - 1
17-42453286-T-G c.2516A>C p.Q839P Missense 25/30 - 1
17-42453286-TG-AC c.2515_2516delinsGT p.Q839V Missense 25/30 - 1
17-42453286-TG-AT c.2515_2516delinsAT p.Q839M Missense 25/30 - 1
17-42453286-TG-CA c.2515_2516inv p.Q839W Missense 25/30 - 1
17-42453286-TG-CC c.2515_2516delinsGG p.Q839G Missense 25/30 - 1
17-42453286-TG-GA c.2515_2516delinsTC p.Q839S Missense 25/30 - 1
17-42453286-TG-GC c.2515_2516delinsGC p.Q839A Missense 25/30 - 1
17-42453286-TG-GT c.2515_2516delinsAC p.Q839T Missense 25/30 - 1
17-42453287-G-C c.2515C>G p.Q839E Missense 25/30 - 1
17-42453287-G-T c.2515C>A p.Q839K Missense 25/30 - 1
17-42453288-G-A c.2514C>T p.S838= Synonymous 25/30 - 2
17-42453288-G-C c.2514C>G p.S838= Synonymous 25/30 - 2
17-42453288-GGA-CAT c.2512_2514delinsATG p.S838M Missense 25/30 - 1
17-42453288-GGA-CTC c.2512_2514delinsGAG p.S838E Missense 25/30 - 1
17-42453288-GGA-CTT c.2512_2514delinsAAG p.S838K Missense 25/30 - 1
17-42453288-GGA-TTG c.2512_2514delinsCAA p.S838Q Missense 25/30 - 1
17-42453288-GG-CC c.2513_2514inv p.S838W Missense 25/30 - 1
17-42453288-G-T c.2514C>A p.S838= Synonymous 25/30 - 2
17-42453289-G-A c.2513C>T p.S838F Missense 25/30 - 1
17-42453289-GA-AC c.2512_2513delinsGT p.S838V Missense 25/30 - 1
17-42453289-GA-AG c.2512_2513delinsCT p.S838L Missense 25/30 - 1
17-42453289-GA-AT c.2512_2513delinsAT p.S838I Missense 25/30 - 1
17-42453289-GA-CC c.2512_2513delinsGG p.S838G Missense 25/30 - 1
17-42453289-GA-CG c.2512_2513delinsCG p.S838R Missense 25/30 - 1
17-42453289-GA-TC c.2512_2513inv p.S838D Missense 25/30 - 1
17-42453289-GA-TG c.2512_2513delinsCA p.S838H Missense 25/30 - 1
17-42453289-GA-TT c.2512_2513delinsAA p.S838N Missense 25/30 - 1
17-42453289-G-C c.2513C>G p.S838C Missense 25/30 - 1
17-42453289-G-T c.2513C>A p.S838Y Missense 25/30 - 1
17-42453290-A-C c.2512T>G p.S838A Missense 25/30 - 1
17-42453290-A-G c.2512T>C p.S838P Missense 25/30 - 1
17-42453290-A-T c.2512T>A p.S838T Missense 25/30 - 1
17-42453291-C-A c.2511G>T p.Q837H Missense 25/30 - 1
17-42453291-C-G c.2511G>C p.Q837H Missense 25/30 - 3
17-42453291-C-T c.2511G>A p.Q837= Synonymous 25/30 - 1
17-42453291-CTG-AAA c.2509_2511delinsTTT p.Q837F Missense 25/30 - 1
17-42453291-CTG-ACA c.2509_2511delinsTGT p.Q837C Missense 25/30 - 1
17-42453291-CTG-ATA c.2509_2511delinsTAT p.Q837Y Missense 25/30 - 1
17-42453291-CTG-GAT c.2509_2511delinsATC p.Q837I Missense 25/30 - 1
17-42453291-CTG-GTC c.2509_2511delinsGAC p.Q837D Missense 25/30 - 1
17-42453291-CTG-GTT c.2509_2511delinsAAC p.Q837N Missense 25/30 - 1
17-42453292-T-A c.2510A>T p.Q837L Missense 25/30 - 1
17-42453292-T-C c.2510A>G p.Q837R Missense 25/30 - 2
17-42453292-T-G c.2510A>C p.Q837P Missense 25/30 - 1
17-42453292-TG-AC c.2509_2510delinsGT p.Q837V Missense 25/30 - 1
17-42453292-TG-AT c.2509_2510delinsAT p.Q837M Missense 25/30 - 1
17-42453292-TG-CA c.2509_2510inv p.Q837W Missense 25/30 - 1
17-42453292-TG-CC c.2509_2510delinsGG p.Q837G Missense 25/30 - 1
17-42453292-TG-GA c.2509_2510delinsTC p.Q837S Missense 25/30 - 1
17-42453292-TG-GC c.2509_2510delinsGC p.Q837A Missense 25/30 - 1
17-42453292-TG-GT c.2509_2510delinsAC p.Q837T Missense 25/30 - 1
17-42453293-G-A c.2509C>T p.Q837* Nonsense 25/30 - 1
17-42453293-G-C c.2509C>G p.Q837E Missense 25/30 - 1
17-42453293-G-T c.2509C>A p.Q837K Missense 25/30 - 1
17-42453294-TCC-AAA c.2506_2508delinsTTT p.G836F Missense 25/30 - 1
17-42453294-TCC-ACA c.2506_2508delinsTGT p.G836C Missense 25/30 - 1
17-42453294-TCC-ATA c.2506_2508delinsTAT p.G836Y Missense 25/30 - 1
17-42453294-TCC-ATG c.2506_2508delinsCAT p.G836H Missense 25/30 - 1
17-42453294-TCC-CAT c.2506_2508delinsATG p.G836M Missense 25/30 - 1
17-42453294-TCC-CCA c.2506_2508delinsTGG p.G836W Missense 25/30 - 1
17-42453294-TCC-GCT c.2506_2508delinsAGC p.G836S Missense 25/30 - 1
17-42453294-TCC-GTT c.2506_2508delinsAAC p.G836N Missense 25/30 - 1
17-42453294-TC-GT c.2507_2508delinsAC p.G836D Missense 25/30 - 1
17-42453295-C-A c.2507G>T p.G836V Missense 25/30 - 1
17-42453295-CC-AG c.2506_2507delinsCT p.G836L Missense 25/30 - 1
17-42453295-CC-AT c.2506_2507delinsAT p.G836I Missense 25/30 - 1
17-42453295-CC-GG c.2506_2507inv p.G836P Missense 25/30 - 1
17-42453295-CC-GT c.2506_2507delinsAC p.G836T Missense 25/30 - 1
17-42453295-CC-TG c.2506_2507delinsCA p.G836Q Missense 25/30 - 1
17-42453295-CC-TT c.2506_2507delinsAA p.G836K Missense 25/30 - 1
17-42453295-C-G c.2507G>C p.G836A Missense 25/30 - 3
17-42453295-C-T c.2507G>A p.G836E Missense 25/30 - 1
17-42453296-C-G c.2506G>C p.G836R Missense 25/30 - 1
17-42453296-C-T c.2506G>A p.G836R Missense 25/30 - 1
17-42453297-CG-AT c.2504_2505delinsAT p.P835H Missense 25/30 - 1
17-42453297-CGG-AAA c.2503_2505delinsTTT p.P835F Missense 25/30 - 1
17-42453297-CGG-ACA c.2503_2505delinsTGT p.P835C Missense 25/30 - 1
17-42453297-CGG-ATA c.2503_2505delinsTAT p.P835Y Missense 25/30 - 1
17-42453297-CGG-GAT c.2503_2505delinsATC p.P835I Missense 25/30 - 1
17-42453297-CGG-GTC c.2503_2505delinsGAC p.P835D Missense 25/30 - 1
17-42453297-CGG-GTT c.2503_2505delinsAAC p.P835N Missense 25/30 - 1
17-42453298-G-A c.2504C>T p.P835L Missense 25/30 - 6
17-42453298-G-C c.2504C>G p.P835R Missense 25/30 - 3
17-42453298-GG-AC c.2503_2504delinsGT p.P835V Missense 25/30 - 1
17-42453298-GG-AT c.2503_2504delinsAT p.P835M Missense 25/30 - 1
17-42453298-GG-CA c.2503_2504delinsTG p.P835W Missense 25/30 - 1
17-42453298-GG-CC c.2503_2504inv p.P835G Missense 25/30 - 1
17-42453298-GG-TC c.2503_2504delinsGA p.P835E Missense 25/30 - 1
17-42453298-GG-TT c.2503_2504delinsAA p.P835K Missense 25/30 - 1
17-42453298-G-T c.2504C>A p.P835Q Missense 25/30 - 1
17-42453299-G-A c.2503C>T p.P835S Missense 25/30 - 1
17-42453299-G-C c.2503C>G p.P835A Missense 25/30 - 2
17-42453299-G-T c.2503C>A p.P835T Missense 25/30 - 1
17-42453300-AAG-CAT c.2500_2502delinsATG p.L834M Missense 25/30 - 1
17-42453300-AAG-CCA c.2500_2502delinsTGG p.L834W Missense 25/30 - 1
17-42453300-AAG-CTC c.2500_2502delinsGAG p.L834E Missense 25/30 - 1
17-42453300-AAG-CTT c.2500_2502inv p.L834K Missense 25/30 - 1
17-42453300-AA-TT c.2501_2502inv p.L834Q Missense 25/30 - 1
17-42453301-A-C c.2501T>G p.L834R Missense 25/30 - 1
17-42453301-A-G c.2501T>C p.L834P Missense 25/30 - 1
17-42453301-AG-CA c.2500_2501delinsTG p.L834C Missense 25/30 - 1
17-42453301-AG-CC c.2500_2501delinsGG p.L834G Missense 25/30 - 1
17-42453301-AG-CT c.2500_2501inv p.L834S Missense 25/30 - 1
17-42453301-AG-GC c.2500_2501delinsGC p.L834A Missense 25/30 - 1
17-42453301-AG-GT c.2500_2501delinsAC p.L834T Missense 25/30 - 1
17-42453301-AG-TA c.2500_2501delinsTA p.L834Y Missense 25/30 - 1
17-42453301-AG-TC c.2500_2501delinsGA p.L834D Missense 25/30 - 1
17-42453301-AG-TT c.2500_2501delinsAA p.L834N Missense 25/30 - 1
17-42453301-A-T c.2501T>A p.L834H Missense 25/30 - 1
17-42453302-G-A c.2500C>T p.L834F Missense 25/30 - 1
17-42453302-G-C c.2500C>G p.L834V Missense 25/30 - 1
17-42453302-G-T c.2500C>A p.L834I Missense 25/30 - 1
17-42453303-G-C c.2499C>G p.H833Q Missense 25/30 - 1
17-42453303-G-T c.2499C>A p.H833Q Missense 25/30 - 1
17-42453303-GTG-CAT c.2497_2499delinsATG p.H833M Missense 25/30 - 1
17-42453303-GTG-CCA c.2497_2499delinsTGG p.H833W Missense 25/30 - 1
17-42453303-GTG-CTC c.2497_2499delinsGAG p.H833E Missense 25/30 - 1
17-42453303-GTG-CTT c.2497_2499delinsAAG p.H833K Missense 25/30 - 1
17-42453304-T-A c.2498A>T p.H833L Missense 25/30 - 1
17-42453304-T-C c.2498A>G p.H833R Missense 25/30 - 1
17-42453304-T-G c.2498A>C p.H833P Missense 25/30 - 1
17-42453304-TG-AA c.2497_2498delinsTT p.H833F Missense 25/30 - 1
17-42453304-TG-AC c.2497_2498delinsGT p.H833V Missense 25/30 - 1
17-42453304-TG-AT c.2497_2498delinsAT p.H833I Missense 25/30 - 1
17-42453304-TG-CA c.2497_2498inv p.H833C Missense 25/30 - 1
17-42453304-TG-CC c.2497_2498delinsGG p.H833G Missense 25/30 - 1
17-42453304-TG-CT c.2497_2498delinsAG p.H833S Missense 25/30 - 1
17-42453304-TG-GC c.2497_2498delinsGC p.H833A Missense 25/30 - 1
17-42453304-TG-GT c.2497_2498delinsAC p.H833T Missense 25/30 - 1
17-42453305-G-A c.2497C>T p.H833Y Missense 25/30 - 2
17-42453305-G-C c.2497C>G p.H833D Missense 25/30 - 1
17-42453305-G-T c.2497C>A p.H833N Missense 25/30 - 1
17-42453306-GA-CC c.2495_2496delinsGG p.I832R Missense 25/30 - 1
17-42453306-GA-CT c.2495_2496delinsAG p.I832K Missense 25/30 - 1
17-42453306-GAT-CCA c.2494_2496delinsTGG p.I832W Missense 25/30 - 1
17-42453306-GAT-CTC c.2494_2496delinsGAG p.I832E Missense 25/30 - 1
17-42453306-GAT-TTG c.2494_2496delinsCAA p.I832Q Missense 25/30 - 1
17-42453306-G-C c.2496C>G p.I832M Missense 25/30 - 1
17-42453307-A-C c.2495T>G p.I832S Missense 25/30 - 1
17-42453307-A-G c.2495T>C p.I832T Missense 25/30 - 1
17-42453307-A-T c.2495T>A p.I832N Missense 25/30 - 1
17-42453307-AT-CA c.2494_2495delinsTG p.I832C Missense 25/30 - 1
17-42453307-AT-CC c.2494_2495delinsGG p.I832G Missense 25/30 - 1
17-42453307-AT-GC c.2494_2495delinsGC p.I832A Missense 25/30 - 1
17-42453307-AT-GG c.2494_2495delinsCC p.I832P Missense 25/30 - 1
17-42453307-AT-TA c.2494_2495delinsTA p.I832Y Missense 25/30 - 1
17-42453307-AT-TC c.2494_2495delinsGA p.I832D Missense 25/30 - 1
17-42453307-AT-TG c.2494_2495delinsCA p.I832H Missense 25/30 - 1
17-42453308-T-A c.2494A>T p.I832F Missense 25/30 - 1
17-42453308-T-C c.2494A>G p.I832V Missense 25/30 - 1
17-42453308-T-G c.2494A>C p.I832L Missense 25/30 - 1
17-42453309-G-C c.2493C>G p.S831R Missense 25/30 - 1
17-42453309-GC-CA c.2492_2493delinsTG p.S831M Missense 25/30 - 1
17-42453309-GC-CT c.2492_2493delinsAG p.S831K Missense 25/30 - 1
17-42453309-GCT-CCA c.2491_2493delinsTGG p.S831W Missense 25/30 - 1
17-42453309-GCT-CTC c.2491_2493delinsGAG p.S831E Missense 25/30 - 1
17-42453309-GCT-TTG c.2491_2493delinsCAA p.S831Q Missense 25/30 - 1
17-42453309-G-T c.2493C>A p.S831R Missense 25/30 - 1
17-42453311-T-G c.2491A>C p.S831R Missense 25/30 - 1
17-42453310-C-A c.2492G>T p.S831I Missense 25/30 - 1
17-42453310-C-G c.2492G>C p.S831T Missense 25/30 - 1
17-42453310-C-T c.2492G>A p.S831N Missense 25/30 - 1
17-42453310-CT-AA c.2491_2492delinsTT p.S831F Missense 25/30 - 1
17-42453310-CT-AC c.2491_2492delinsGT p.S831V Missense 25/30 - 1
17-42453310-CT-AG c.2491_2492inv p.S831L Missense 25/30 - 1
17-42453310-CT-GC c.2491_2492delinsGC p.S831A Missense 25/30 - 1
17-42453310-CT-GG c.2491_2492delinsCC p.S831P Missense 25/30 - 1
17-42453310-CT-TA c.2491_2492delinsTA p.S831Y Missense 25/30 - 1
17-42453310-CT-TC c.2491_2492delinsGA p.S831D Missense 25/30 - 1
17-42453310-CT-TG c.2491_2492delinsCA p.S831H Missense 25/30 - 1
17-42453311-T-A c.2491A>T p.S831C Missense 25/30 - 2
17-42453311-T-C c.2491A>G p.S831G Missense 25/30 - 1
17-42453312-GAG-CAT c.2488_2490delinsATG p.L830M Missense 25/30 - 1
17-42453312-GAG-CCA c.2488_2490delinsTGG p.L830W Missense 25/30 - 1
17-42453312-GAG-CTC c.2488_2490inv p.L830E Missense 25/30 - 1
17-42453312-GAG-CTT c.2488_2490delinsAAG p.L830K Missense 25/30 - 1
17-42453312-GA-TT c.2489_2490delinsAA p.L830Q Missense 25/30 - 1
17-42453313-A-C c.2489T>G p.L830R Missense 25/30 - 2
17-42453313-A-G c.2489T>C p.L830P Missense 25/30 - 1
17-42453313-AG-CA c.2488_2489delinsTG p.L830C Missense 25/30 - 1
17-42453313-AG-CC c.2488_2489delinsGG p.L830G Missense 25/30 - 1
17-42453313-AG-CT c.2488_2489inv p.L830S Missense 25/30 - 1
17-42453313-AG-GC c.2488_2489delinsGC p.L830A Missense 25/30 - 1
17-42453313-AG-GT c.2488_2489delinsAC p.L830T Missense 25/30 - 1
17-42453313-AG-TA c.2488_2489delinsTA p.L830Y Missense 25/30 - 1
17-42453313-AG-TC c.2488_2489delinsGA p.L830D Missense 25/30 - 1
17-42453313-AG-TT c.2488_2489delinsAA p.L830N Missense 25/30 - 1
17-42453313-A-T c.2489T>A p.L830H Missense 25/30 - 1
17-42453314-G-A c.2488C>T p.L830F Missense 25/30 - 2
17-42453314-G-C c.2488C>G p.L830V Missense 25/30 - 1
17-42453314-G-T c.2488C>A p.L830I Missense 25/30 - 1
17-42453315-G-C c.2487C>G p.H829Q Missense 25/30 - 1
17-42453315-G-T c.2487C>A p.H829Q Missense 25/30 - 1
17-42453315-GTG-CAT c.2485_2487delinsATG p.H829M Missense 25/30 - 1
17-42453315-GTG-CCA c.2485_2487delinsTGG p.H829W Missense 25/30 - 1
17-42453315-GTG-CTC c.2485_2487delinsGAG p.H829E Missense 25/30 - 1
17-42453315-GTG-CTT c.2485_2487delinsAAG p.H829K Missense 25/30 - 1
17-42453316-T-A c.2486A>T p.H829L Missense 25/30 - 1
17-42453316-T-C c.2486A>G p.H829R Missense 25/30 - 1
17-42453316-T-G c.2486A>C p.H829P Missense 25/30 - 1
17-42453316-TG-AA c.2485_2486delinsTT p.H829F Missense 25/30 - 1
17-42453316-TG-AC c.2485_2486delinsGT p.H829V Missense 25/30 - 1
17-42453316-TG-AT c.2485_2486delinsAT p.H829I Missense 25/30 - 1
17-42453316-TG-CA c.2485_2486inv p.H829C Missense 25/30 - 1
17-42453316-TG-CC c.2485_2486delinsGG p.H829G Missense 25/30 - 1
17-42453316-TG-CT c.2485_2486delinsAG p.H829S Missense 25/30 - 1
17-42453316-TG-GC c.2485_2486delinsGC p.H829A Missense 25/30 - 1
17-42453316-TG-GT c.2485_2486delinsAC p.H829T Missense 25/30 - 1
17-42453317-G-A c.2485C>T p.H829Y Missense 25/30 - 1
17-42453317-G-C c.2485C>G p.H829D Missense 25/30 - 1
17-42453317-G-T c.2485C>A p.H829N Missense 25/30 - 1
17-42453318-AAG-CAT c.2482_2484delinsATG p.L828M Missense 25/30 - 1
17-42453318-AAG-CCA c.2482_2484delinsTGG p.L828W Missense 25/30 - 1
17-42453318-AAG-CTC c.2482_2484delinsGAG p.L828E Missense 25/30 - 1
17-42453318-AAG-CTT c.2482_2484inv p.L828K Missense 25/30 - 1
17-42453318-AA-TT c.2483_2484inv p.L828Q Missense 25/30 - 1
17-42453319-A-C c.2483T>G p.L828R Missense 25/30 - 1
17-42453319-A-G c.2483T>C p.L828P Missense 25/30 - 1
17-42453319-AG-CA c.2482_2483delinsTG p.L828C Missense 25/30 - 1
17-42453319-AG-CC c.2482_2483delinsGG p.L828G Missense 25/30 - 1
17-42453319-AG-CT c.2482_2483inv p.L828S Missense 25/30 - 1
17-42453319-AG-GC c.2482_2483delinsGC p.L828A Missense 25/30 - 1
17-42453319-AG-GT c.2482_2483delinsAC p.L828T Missense 25/30 - 1
17-42453319-AG-TA c.2482_2483delinsTA p.L828Y Missense 25/30 - 1
17-42453319-AG-TC c.2482_2483delinsGA p.L828D Missense 25/30 - 1
17-42453319-AG-TT c.2482_2483delinsAA p.L828N Missense 25/30 - 1
17-42453319-A-T c.2483T>A p.L828H Missense 25/30 - 1
17-42453320-G-A c.2482C>T p.L828F Missense 25/30 - 1
17-42453320-G-C c.2482C>G p.L828V Missense 25/30 - 1
17-42453320-G-T c.2482C>A p.L828I Missense 25/30 - 1
17-42453321-ACC-CAT c.2479_2481delinsATG p.G827M Missense 25/30 - 1
17-42453321-ACC-CCA c.2479_2481delinsTGG p.G827W Missense 25/30 - 1
17-42453321-ACC-CTT c.2479_2481delinsAAG p.G827K Missense 25/30 - 1
17-42453321-AC-CT c.2480_2481delinsAG p.G827E Missense 25/30 - 1
17-42453321-ACC-TTG c.2479_2481delinsCAA p.G827Q Missense 25/30 - 1
17-42453320-GACCATTCAC-G c.2473_2481del p.V825_G827del InFrameDeletion 25/30 - 1
17-42453322-C-A c.2480G>T p.G827V Missense 25/30 - 1
17-42453322-CC-AA c.2479_2480delinsTT p.G827F Missense 25/30 - 1
17-42453322-CC-AG c.2479_2480delinsCT p.G827L Missense 25/30 - 1
17-42453322-CC-AT c.2479_2480delinsAT p.G827I Missense 25/30 - 1
17-42453322-CC-GG c.2479_2480inv p.G827P Missense 25/30 - 1
17-42453322-CC-GT c.2479_2480delinsAC p.G827T Missense 25/30 - 1
17-42453322-CC-TA c.2479_2480delinsTA p.G827Y Missense 25/30 - 1
17-42453322-CC-TG c.2479_2480delinsCA p.G827H Missense 25/30 - 1
17-42453322-CC-TT c.2479_2480delinsAA p.G827N Missense 25/30 - 1
17-42453322-C-G c.2480G>C p.G827A Missense 25/30 - 1
17-42453322-C-T c.2480G>A p.G827D Missense 25/30 - 1
17-42453323-C-A c.2479G>T p.G827C Missense 25/30 - 1
17-42453323-C-G c.2479G>C p.G827R Missense 25/30 - 1
17-42453323-C-T c.2479G>A p.G827S Missense 25/30 - 3
17-42453324-A-C c.2478T>G p.N826K Missense 25/30 - 1
17-42453324-A-T c.2478T>A p.N826K Missense 25/30 - 1
17-42453324-AT-CA c.2477_2478delinsTG p.N826M Missense 25/30 - 1
17-42453324-AT-CC c.2477_2478delinsGG p.N826R Missense 25/30 - 1
17-42453324-ATT-CCA c.2476_2478delinsTGG p.N826W Missense 25/30 - 1
17-42453324-ATT-CTC c.2476_2478delinsGAG p.N826E Missense 25/30 - 1
17-42453324-ATT-TTG c.2476_2478delinsCAA p.N826Q Missense 25/30 - 1
17-42453325-T-A c.2477A>T p.N826I Missense 25/30 - 1
17-42453325-T-C c.2477A>G p.N826S Missense 25/30 - 1
17-42453325-T-G c.2477A>C p.N826T Missense 25/30 - 1
17-42453325-TT-AA c.2476_2477inv p.N826F Missense 25/30 - 1
17-42453325-TT-AC c.2476_2477delinsGT p.N826V Missense 25/30 - 1
17-42453325-TT-AG c.2476_2477delinsCT p.N826L Missense 25/30 - 1
17-42453325-TT-CA c.2476_2477delinsTG p.N826C Missense 25/30 - 1
17-42453325-TT-CC c.2476_2477delinsGG p.N826G Missense 25/30 - 1
17-42453325-TT-GC c.2476_2477delinsGC p.N826A Missense 25/30 - 1
17-42453325-TT-GG c.2476_2477delinsCC p.N826P Missense 25/30 - 1
17-42453326-T-A c.2476A>T p.N826Y Missense 25/30 - 1
17-42453326-T-C c.2476A>G p.N826D Missense 25/30 - 1
17-42453326-T-G c.2476A>C p.N826H Missense 25/30 - 1
17-42453327-CAC-AAA c.2473_2475delinsTTT p.V825F Missense 25/30 - 1
17-42453327-CAC-ACA c.2473_2475delinsTGT p.V825C Missense 25/30 - 1
17-42453327-CAC-ATA c.2473_2475delinsTAT p.V825Y Missense 25/30 - 1
17-42453327-CAC-ATG c.2473_2475delinsCAT p.V825H Missense 25/30 - 1
17-42453327-CAC-GAT c.2473_2475delinsATC p.V825I Missense 25/30 - 1
17-42453327-CAC-GTT c.2473_2475delinsAAC p.V825N Missense 25/30 - 1
17-42453327-CA-GT c.2474_2475delinsAC p.V825D Missense 25/30 - 1
17-42453327-C-G c.2475G>C p.V825= Synonymous 25/30 - 1
17-42453328-A-C c.2474T>G p.V825G Missense 25/30 - 1
17-42453328-AC-CA c.2473_2474delinsTG p.V825W Missense 25/30 - 1
17-42453328-AC-CT c.2473_2474delinsAG p.V825R Missense 25/30 - 1
17-42453328-AC-GA c.2473_2474delinsTC p.V825S Missense 25/30 - 1
17-42453328-AC-GG c.2473_2474delinsCC p.V825P Missense 25/30 - 1
17-42453328-AC-GT c.2473_2474inv p.V825T Missense 25/30 - 1
17-42453328-AC-TG c.2473_2474delinsCA p.V825Q Missense 25/30 - 1
17-42453328-AC-TT c.2473_2474delinsAA p.V825K Missense 25/30 - 1
17-42453328-A-G c.2474T>C p.V825A Missense 25/30 - 1
17-42453328-A-T c.2474T>A p.V825E Missense 25/30 - 1
17-42453329-C-A c.2473G>T p.V825L Missense 25/30 - 1
17-42453329-C-G c.2473G>C p.V825L Missense 25/30 - 1
17-42453329-C-T c.2473G>A p.V825M Missense 25/30 - 1
17-42453330-AG-CA c.2471_2472delinsTG p.T824M Missense 25/30 - 1
17-42453330-AG-CC c.2471_2472delinsGG p.T824R Missense 25/30 - 1
17-42453330-AG-CT c.2471_2472inv p.T824K Missense 25/30 - 1
17-42453330-AGT-CCA c.2470_2472delinsTGG p.T824W Missense 25/30 - 1
17-42453330-AGT-CTC c.2470_2472delinsGAG p.T824E Missense 25/30 - 1
17-42453330-AGT-TTG c.2470_2472delinsCAA p.T824Q Missense 25/30 - 1
17-42453331-G-A c.2471C>T p.T824I Missense 25/30 - 2
17-42453331-G-C c.2471C>G p.T824S Missense 25/30 - 1
17-42453331-G-T c.2471C>A p.T824N Missense 25/30 - 1
17-42453331-GT-AA c.2470_2471delinsTT p.T824F Missense 25/30 - 1
17-42453331-GT-AC c.2470_2471inv p.T824V Missense 25/30 - 1
17-42453331-GT-AG c.2470_2471delinsCT p.T824L Missense 25/30 - 1
17-42453331-GT-CA c.2470_2471delinsTG p.T824C Missense 25/30 - 1
17-42453331-GT-CC c.2470_2471delinsGG p.T824G Missense 25/30 - 1
17-42453331-GT-TA c.2470_2471delinsTA p.T824Y Missense 25/30 - 1
17-42453331-GT-TC c.2470_2471delinsGA p.T824D Missense 25/30 - 1
17-42453331-GT-TG c.2470_2471delinsCA p.T824H Missense 25/30 - 1
17-42453332-T-A c.2470A>T p.T824S Missense 25/30 - 1
17-42453332-T-C c.2470A>G p.T824A Missense 25/30 - 1
17-42453332-T-G c.2470A>C p.T824P Missense 25/30 - 1
17-42453333-CCC-AAA c.2467_2469delinsTTT p.G823F Missense 25/30 - 1
17-42453333-CCC-ACA c.2467_2469delinsTGT p.G823C Missense 25/30 - 1
17-42453333-CCC-ATA c.2467_2469delinsTAT p.G823Y Missense 25/30 - 1
17-42453333-CCC-ATG c.2467_2469delinsCAT p.G823H Missense 25/30 - 1
17-42453333-CCC-GAT c.2467_2469delinsATC p.G823I Missense 25/30 - 1
17-42453333-CCC-GCT c.2467_2469delinsAGC p.G823S Missense 25/30 - 1
17-42453333-CCC-GTT c.2467_2469delinsAAC p.G823N Missense 25/30 - 1
17-42453333-CC-GT c.2468_2469delinsAC p.G823D Missense 25/30 - 1
17-42453334-C-A c.2468G>T p.G823V Missense 25/30 - 1
17-42453334-CC-AG c.2467_2468delinsCT p.G823L Missense 25/30 - 1
17-42453334-CC-AT c.2467_2468delinsAT p.G823M Missense 25/30 - 1
17-42453334-CC-GG c.2467_2468inv p.G823P Missense 25/30 - 1
17-42453334-CC-GT c.2467_2468delinsAC p.G823T Missense 25/30 - 1
17-42453334-CC-TG c.2467_2468delinsCA p.G823Q Missense 25/30 - 1
17-42453334-CC-TT c.2467_2468delinsAA p.G823K Missense 25/30 - 2
17-42453334-C-G c.2468G>C p.G823A Missense 25/30 - 5
17-42453334-C-T c.2468G>A p.G823E Missense 25/30 - 2
17-42453335-C-A c.2467G>T p.G823W Missense 25/30 - 1
17-42453335-C-G c.2467G>C p.G823R Missense 25/30 - 1
17-42453335-C-T c.2467G>A p.G823R Missense 25/30 - 1
17-42453336-AGG-CAT c.2464_2466delinsATG p.P822M Missense 25/30 - 1
17-42453336-AGG-CCA c.2464_2466delinsTGG p.P822W Missense 25/30 - 1
17-42453336-AGG-CTC c.2464_2466delinsGAG p.P822E Missense 25/30 - 1
17-42453336-AGG-CTT c.2464_2466delinsAAG p.P822K Missense 25/30 - 1
17-42453336-AG-TT c.2465_2466delinsAA p.P822Q Missense 25/30 - 1
17-42453337-G-A c.2465C>T p.P822L Missense 25/30 - 1
17-42453337-G-C c.2465C>G p.P822R Missense 25/30 - 1
17-42453337-GG-AA c.2464_2465delinsTT p.P822F Missense 25/30 - 1
17-42453337-GG-AC c.2464_2465delinsGT p.P822V Missense 25/30 - 1
17-42453337-GG-AT c.2464_2465delinsAT p.P822I Missense 25/30 - 1
17-42453337-GG-CA c.2464_2465delinsTG p.P822C Missense 25/30 - 1
17-42453337-GG-CC c.2464_2465inv p.P822G Missense 25/30 - 1
17-42453337-GG-TA c.2464_2465delinsTA p.P822Y Missense 25/30 - 1
17-42453337-GG-TC c.2464_2465delinsGA p.P822D Missense 25/30 - 1
17-42453337-GG-TT c.2464_2465delinsAA p.P822N Missense 25/30 - 1
17-42453337-G-T c.2465C>A p.P822H Missense 25/30 - 1
17-42453338-G-A c.2464C>T p.P822S Missense 25/30 - 1
17-42453338-G-C c.2464C>G p.P822A Missense 25/30 - 1
17-42453338-G-T c.2464C>A p.P822T Missense 25/30 - 1
17-42453339-GCC-CAT c.2461_2463delinsATG p.G821M Missense 25/30 - 1
17-42453339-GCC-CCA c.2461_2463delinsTGG p.G821W Missense 25/30 - 1
17-42453339-GCC-CTT c.2461_2463delinsAAG p.G821K Missense 25/30 - 1
17-42453339-GC-CT c.2462_2463delinsAG p.G821E Missense 25/30 - 1
17-42453339-GCC-TTG c.2461_2463delinsCAA p.G821Q Missense 25/30 - 1
17-42453340-C-A c.2462G>T p.G821V Missense 25/30 - 1
17-42453340-CC-AA c.2461_2462delinsTT p.G821F Missense 25/30 - 1
17-42453340-CC-AG c.2461_2462delinsCT p.G821L Missense 25/30 - 1
17-42453340-CC-AT c.2461_2462delinsAT p.G821I Missense 25/30 - 1
17-42453340-CC-GG c.2461_2462inv p.G821P Missense 25/30 - 1
17-42453340-CC-GT c.2461_2462delinsAC p.G821T Missense 25/30 - 1
17-42453340-CC-TA c.2461_2462delinsTA p.G821Y Missense 25/30 - 1
17-42453340-CC-TG c.2461_2462delinsCA p.G821H Missense 25/30 - 1
17-42453340-CC-TT c.2461_2462delinsAA p.G821N Missense 25/30 - 1
17-42453340-C-G c.2462G>C p.G821A Missense 25/30 - 1
17-42453340-C-T c.2462G>A p.G821D Missense 25/30 - 1
17-42453341-C-A c.2461G>T p.G821C Missense 25/30 - 1
17-42453341-C-G c.2461G>C p.G821R Missense 25/30 - 1
17-42453341-C-T c.2461G>A p.G821S Missense 25/30 - 1
17-42453342-A-C c.2460T>G p.N820K Missense 25/30 - 1
17-42453342-A-G c.2460T>C p.N820= Synonymous 25/30 - 1
17-42453342-A-T c.2460T>A p.N820K Missense 25/30 - 1
17-42453342-AT-CA c.2459_2460delinsTG p.N820M Missense 25/30 - 1
17-42453342-AT-CC c.2459_2460delinsGG p.N820R Missense 25/30 - 1
17-42453342-ATT-CCA c.2458_2460delinsTGG p.N820W Missense 25/30 - 1
17-42453342-ATT-CTC c.2458_2460delinsGAG p.N820E Missense 25/30 - 1
17-42453342-ATT-TTG c.2458_2460delinsCAA p.N820Q Missense 25/30 - 1
17-42453343-T-A c.2459A>T p.N820I Missense 25/30 - 1
17-42453343-T-C c.2459A>G p.N820S Missense 25/30 - 1
17-42453343-T-G c.2459A>C p.N820T Missense 25/30 - 1
17-42453343-TT-AA c.2458_2459inv p.N820F Missense 25/30 - 1
17-42453343-TT-AC c.2458_2459delinsGT p.N820V Missense 25/30 - 1
17-42453343-TT-AG c.2458_2459delinsCT p.N820L Missense 25/30 - 1
17-42453343-TT-CA c.2458_2459delinsTG p.N820C Missense 25/30 - 1
17-42453343-TT-CC c.2458_2459delinsGG p.N820G Missense 25/30 - 1
17-42453343-TT-GC c.2458_2459delinsGC p.N820A Missense 25/30 - 1
17-42453343-TT-GG c.2458_2459delinsCC p.N820P Missense 25/30 - 1
17-42453344-T-A c.2458A>T p.N820Y Missense 25/30 - 1
17-42453344-T-C c.2458A>G p.N820D Missense 25/30 - 1
17-42453344-T-G c.2458A>C p.N820H Missense 25/30 - 1
17-42453345-G-C c.2457C>G p.N819K Missense 25/30 - 1
17-42453345-G-T c.2457C>A p.N819K Missense 25/30 - 1
17-42453345-GT-CA c.2456_2457delinsTG p.N819M Missense 25/30 - 1
17-42453345-GT-CC c.2456_2457delinsGG p.N819R Missense 25/30 - 1
17-42453345-GTT-CCA c.2455_2457delinsTGG p.N819W Missense 25/30 - 1
17-42453345-GTT-CTC c.2455_2457delinsGAG p.N819E Missense 25/30 - 1
17-42453345-GTT-TTG c.2455_2457delinsCAA p.N819Q Missense 25/30 - 1
17-42453346-T-A c.2456A>T p.N819I Missense 25/30 - 1
17-42453346-T-C c.2456A>G p.N819S Missense 25/30 - 1
17-42453346-T-G c.2456A>C p.N819T Missense 25/30 - 1
17-42453346-TT-AA c.2455_2456inv p.N819F Missense 25/30 - 1
17-42453346-TT-AC c.2455_2456delinsGT p.N819V Missense 25/30 - 1
17-42453346-TT-AG c.2455_2456delinsCT p.N819L Missense 25/30 - 1
17-42453346-TT-CA c.2455_2456delinsTG p.N819C Missense 25/30 - 1
17-42453346-TT-CC c.2455_2456delinsGG p.N819G Missense 25/30 - 1
17-42453346-TT-GC c.2455_2456delinsGC p.N819A Missense 25/30 - 1
17-42453346-TT-GG c.2455_2456delinsCC p.N819P Missense 25/30 - 1
17-42453347-T-A c.2455A>T p.N819Y Missense 25/30 - 1
17-42453347-T-C c.2455A>G p.N819D Missense 25/30 - 1
17-42453347-T-G c.2455A>C p.N819H Missense 25/30 - 1
17-42453348-G-C c.2454C>G p.H818Q Missense 25/30 - 1
17-42453348-G-T c.2454C>A p.H818Q Missense 25/30 - 1
17-42453348-GTG-CAT c.2452_2454delinsATG p.H818M Missense 25/30 - 1
17-42453348-GTG-CCA c.2452_2454delinsTGG p.H818W Missense 25/30 - 1
17-42453348-GTG-CTC c.2452_2454delinsGAG p.H818E Missense 25/30 - 1
17-42453348-GTG-CTT c.2452_2454delinsAAG p.H818K Missense 25/30 - 1
17-42453349-T-A c.2453A>T p.H818L Missense 25/30 - 1
17-42453349-T-C c.2453A>G p.H818R Missense 25/30 - 1
17-42453349-T-G c.2453A>C p.H818P Missense 25/30 - 1
17-42453349-TG-AA c.2452_2453delinsTT p.H818F Missense 25/30 - 1
17-42453349-TG-AC c.2452_2453delinsGT p.H818V Missense 25/30 - 1
17-42453349-TG-AT c.2452_2453delinsAT p.H818I Missense 25/30 - 1
17-42453349-TG-CA c.2452_2453inv p.H818C Missense 25/30 - 1
17-42453349-TG-CC c.2452_2453delinsGG p.H818G Missense 25/30 - 1
17-42453349-TG-CT c.2452_2453delinsAG p.H818S Missense 25/30 - 1
17-42453349-TG-GC c.2452_2453delinsGC p.H818A Missense 25/30 - 1
17-42453349-TG-GT c.2452_2453delinsAC p.H818T Missense 25/30 - 1
17-42453350-G-A c.2452C>T p.H818Y Missense 25/30 - 2
17-42453350-G-C c.2452C>G p.H818D Missense 25/30 - 1
17-42453350-G-T c.2452C>A p.H818N Missense 25/30 - 1
17-42453351-GAG-CAT c.2449_2451delinsATG p.L817M Missense 25/30 - 1
17-42453351-GAG-CCA c.2449_2451delinsTGG p.L817W Missense 25/30 - 1
17-42453351-GAG-CTC c.2449_2451inv p.L817E Missense 25/30 - 1
17-42453351-GAG-CTT c.2449_2451delinsAAG p.L817K Missense 25/30 - 1
17-42453351-GA-TT c.2450_2451delinsAA p.L817Q Missense 25/30 - 1
17-42453352-A-C c.2450T>G p.L817R Missense 25/30 - 1
17-42453352-A-G c.2450T>C p.L817P Missense 25/30 - 1
17-42453352-AG-CA c.2449_2450delinsTG p.L817C Missense 25/30 - 1
17-42453352-AG-CC c.2449_2450delinsGG p.L817G Missense 25/30 - 1
17-42453352-AG-CT c.2449_2450inv p.L817S Missense 25/30 - 1
17-42453352-AG-GC c.2449_2450delinsGC p.L817A Missense 25/30 - 1
17-42453352-AG-GT c.2449_2450delinsAC p.L817T Missense 25/30 - 1
17-42453352-AG-TA c.2449_2450delinsTA p.L817Y Missense 25/30 - 1
17-42453352-AG-TC c.2449_2450delinsGA p.L817D Missense 25/30 - 1
17-42453352-AG-TT c.2449_2450delinsAA p.L817N Missense 25/30 - 1
17-42453352-A-T c.2450T>A p.L817H Missense 25/30 - 1
17-42453353-G-A c.2449C>T p.L817F Missense 25/30 - 1
17-42453353-G-C c.2449C>G p.L817V Missense 25/30 - 1
17-42453353-G-T c.2449C>A p.L817I Missense 25/30 - 1
17-42453423-C-A c.2448+30G>T - IntronicSNV - 24/29 1
17-42453451-A-T c.2448+2T>A - IntronicSNV - 24/29 1
17-42453452-C-T c.2448+1G>A - IntronicSNV - 24/29 1
17-42453453-C-A c.2448G>T p.E816D Missense 24/30 - 1
17-42453453-C-G c.2448G>C p.E816D Missense 24/30 - 1
17-42453453-C-T c.2448G>A p.E816= Synonymous 24/30 - 1
17-42453453-CTC-AAA c.2446_2448delinsTTT p.E816F Missense 24/30 - 1
17-42453453-CTC-ACA c.2446_2448delinsTGT p.E816C Missense 24/30 - 1
17-42453453-CTC-ATA c.2446_2448delinsTAT p.E816Y Missense 24/30 - 1
17-42453453-CTC-ATG c.2446_2448delinsCAT p.E816H Missense 24/30 - 1
17-42453453-CTC-GAT c.2446_2448delinsATC p.E816I Missense 24/30 - 1
17-42453453-CTC-GTT c.2446_2448delinsAAC p.E816N Missense 24/30 - 1
17-42453454-T-A c.2447A>T p.E816V Missense 24/30 - 1
17-42453454-T-C c.2447A>G p.E816G Missense 24/30 - 1
17-42453454-TC-AG c.2446_2447delinsCT p.E816L Missense 24/30 - 1
17-42453454-TC-AT c.2446_2447delinsAT p.E816M Missense 24/30 - 1
17-42453454-TC-CA c.2446_2447delinsTG p.E816W Missense 24/30 - 1
17-42453454-TC-CT c.2446_2447delinsAG p.E816R Missense 24/30 - 1
17-42453454-TC-GA c.2446_2447inv p.E816S Missense 24/30 - 1
17-42453454-TC-GG c.2446_2447delinsCC p.E816P Missense 24/30 - 1
17-42453454-TC-GT c.2446_2447delinsAC p.E816T Missense 24/30 - 1
17-42453454-T-G c.2447A>C p.E816A Missense 24/30 - 1
17-42453455-C-G c.2446G>C p.E816Q Missense 24/30 - 1
17-42453455-C-T c.2446G>A p.E816K Missense 24/30 - 1
17-42453456-ATA-CAT c.2443_2445delinsATG p.Y815M Missense 24/30 - 1
17-42453456-ATA-CTC c.2443_2445delinsGAG p.Y815E Missense 24/30 - 1
17-42453456-ATA-CTT c.2443_2445delinsAAG p.Y815K Missense 24/30 - 1
17-42453456-ATA-TTG c.2443_2445delinsCAA p.Y815Q Missense 24/30 - 1
17-42453456-AT-CC c.2444_2445delinsGG p.Y815W Missense 24/30 - 1
17-42453457-T-A c.2444A>T p.Y815F Missense 24/30 - 2
17-42453457-TA-AC c.2443_2444delinsGT p.Y815V Missense 24/30 - 1
17-42453457-TA-AG c.2443_2444delinsCT p.Y815L Missense 24/30 - 1
17-42453457-TA-AT c.2443_2444delinsAT p.Y815I Missense 24/30 - 1
17-42453457-TA-CC c.2443_2444delinsGG p.Y815G Missense 24/30 - 1
17-42453457-TA-CG c.2443_2444delinsCG p.Y815R Missense 24/30 - 1
17-42453457-TA-GC c.2443_2444delinsGC p.Y815A Missense 24/30 - 1
17-42453457-TA-GG c.2443_2444delinsCC p.Y815P Missense 24/30 - 1
17-42453457-TA-GT c.2443_2444delinsAC p.Y815T Missense 24/30 - 1
17-42453457-T-C c.2444A>G p.Y815C Missense 24/30 - 4
17-42453457-T-G c.2444A>C p.Y815S Missense 24/30 - 1
17-42453458-A-C c.2443T>G p.Y815D Missense 24/30 - 1
17-42453458-A-G c.2443T>C p.Y815H Missense 24/30 - 1
17-42453458-A-T c.2443T>A p.Y815N Missense 24/30 - 2
17-42453459-G-A c.2442C>T p.T814= Synonymous 24/30 - 2
17-42453459-G-C c.2442C>G p.T814= Synonymous 24/30 - 1
17-42453459-GG-CA c.2441_2442delinsTG p.T814M Missense 24/30 - 1
17-42453459-GG-CC c.2441_2442inv p.T814R Missense 24/30 - 1
17-42453459-GG-CT c.2441_2442delinsAG p.T814K Missense 24/30 - 1
17-42453459-GGT-CCA c.2440_2442delinsTGG p.T814W Missense 24/30 - 1
17-42453459-GGT-CTC c.2440_2442delinsGAG p.T814E Missense 24/30 - 1
17-42453459-GGT-TTG c.2440_2442delinsCAA p.T814Q Missense 24/30 - 1
17-42453459-G-T c.2442C>A p.T814= Synonymous 24/30 - 1
17-42453460-G-A c.2441C>T p.T814I Missense 24/30 - 2
17-42453460-G-C c.2441C>G p.T814S Missense 24/30 - 4
17-42453460-G-T c.2441C>A p.T814N Missense 24/30 - 1
17-42453460-GT-AA c.2440_2441delinsTT p.T814F Missense 24/30 - 1
17-42453460-GT-AC c.2440_2441inv p.T814V Missense 24/30 - 1
17-42453460-GT-AG c.2440_2441delinsCT p.T814L Missense 24/30 - 1
17-42453460-GT-CA c.2440_2441delinsTG p.T814C Missense 24/30 - 1
17-42453460-GT-CC c.2440_2441delinsGG p.T814G Missense 24/30 - 1
17-42453460-GT-TA c.2440_2441delinsTA p.T814Y Missense 24/30 - 1
17-42453460-GT-TC c.2440_2441delinsGA p.T814D Missense 24/30 - 1
17-42453460-GT-TG c.2440_2441delinsCA p.T814H Missense 24/30 - 1
17-42453461-T-A c.2440A>T p.T814S Missense 24/30 - 3
17-42453461-T-C c.2440A>G p.T814A Missense 24/30 - 4
17-42453461-T-G c.2440A>C p.T814P Missense 24/30 - 1
17-42453462-G-C c.2439C>G p.H813Q Missense 24/30 - 1
17-42453462-G-T c.2439C>A p.H813Q Missense 24/30 - 1
17-42453462-GTG-CAT c.2437_2439delinsATG p.H813M Missense 24/30 - 1
17-42453462-GTG-CCA c.2437_2439delinsTGG p.H813W Missense 24/30 - 1
17-42453462-GTG-CTC c.2437_2439delinsGAG p.H813E Missense 24/30 - 1
17-42453462-GTG-CTT c.2437_2439delinsAAG p.H813K Missense 24/30 - 1
17-42453463-T-A c.2438A>T p.H813L Missense 24/30 - 2
17-42453463-T-C c.2438A>G p.H813R Missense 24/30 - 1
17-42453463-T-G c.2438A>C p.H813P Missense 24/30 - 1
17-42453463-TG-AA c.2437_2438delinsTT p.H813F Missense 24/30 - 1
17-42453463-TG-AC c.2437_2438delinsGT p.H813V Missense 24/30 - 1
17-42453463-TG-AT c.2437_2438delinsAT p.H813I Missense 24/30 - 1
17-42453463-TG-CA c.2437_2438inv p.H813C Missense 24/30 - 1
17-42453463-TG-CC c.2437_2438delinsGG p.H813G Missense 24/30 - 1
17-42453463-TG-CT c.2437_2438delinsAG p.H813S Missense 24/30 - 1
17-42453463-TG-GC c.2437_2438delinsGC p.H813A Missense 24/30 - 1
17-42453463-TG-GT c.2437_2438delinsAC p.H813T Missense 24/30 - 1
17-42453464-G-A c.2437C>T p.H813Y Missense 24/30 - 1
17-42453464-G-C c.2437C>G p.H813D Missense 24/30 - 1
17-42453464-G-T c.2437C>A p.H813N Missense 24/30 - 2
17-42453465-C-A c.2436G>T p.E812D Missense 24/30 - 1
17-42453465-C-G c.2436G>C p.E812D Missense 24/30 - 1
17-42453465-CTC-AAA c.2434_2436delinsTTT p.E812F Missense 24/30 - 1
17-42453465-CTC-ACA c.2434_2436delinsTGT p.E812C Missense 24/30 - 1
17-42453465-CTC-ATA c.2434_2436delinsTAT p.E812Y Missense 24/30 - 1
17-42453465-CTC-ATG c.2434_2436delinsCAT p.E812H Missense 24/30 - 1
17-42453465-CTC-GAT c.2434_2436delinsATC p.E812I Missense 24/30 - 1
17-42453465-CTC-GTT c.2434_2436delinsAAC p.E812N Missense 24/30 - 1
17-42453466-T-A c.2435A>T p.E812V Missense 24/30 - 1
17-42453466-T-C c.2435A>G p.E812G Missense 24/30 - 1
17-42453466-TC-AG c.2434_2435delinsCT p.E812L Missense 24/30 - 1
17-42453466-TC-AT c.2434_2435delinsAT p.E812M Missense 24/30 - 1
17-42453466-TC-CA c.2434_2435delinsTG p.E812W Missense 24/30 - 1
17-42453466-TC-CT c.2434_2435delinsAG p.E812R Missense 24/30 - 1
17-42453466-TC-GA c.2434_2435inv p.E812S Missense 24/30 - 1
17-42453466-TC-GG c.2434_2435delinsCC p.E812P Missense 24/30 - 1
17-42453466-TC-GT c.2434_2435delinsAC p.E812T Missense 24/30 - 1
17-42453466-T-G c.2435A>C p.E812A Missense 24/30 - 1
17-42453467-C-G c.2434G>C p.E812Q Missense 24/30 - 1
17-42453467-C-T c.2434G>A p.E812K Missense 24/30 - 1
17-42453468-CAC-AAA c.2431_2433delinsTTT p.V811F Missense 24/30 - 1
17-42453468-CAC-ACA c.2431_2433delinsTGT p.V811C Missense 24/30 - 1
17-42453468-CAC-ATA c.2431_2433delinsTAT p.V811Y Missense 24/30 - 1
17-42453468-CAC-ATG c.2431_2433delinsCAT p.V811H Missense 24/30 - 1
17-42453468-CAC-GAT c.2431_2433delinsATC p.V811I Missense 24/30 - 1
17-42453468-CAC-GTT c.2431_2433delinsAAC p.V811N Missense 24/30 - 1
17-42453468-CA-GT c.2432_2433delinsAC p.V811D Missense 24/30 - 1
17-42453469-A-C c.2432T>G p.V811G Missense 24/30 - 1
17-42453469-AC-CA c.2431_2432delinsTG p.V811W Missense 24/30 - 1
17-42453469-AC-CT c.2431_2432delinsAG p.V811R Missense 24/30 - 1
17-42453469-AC-GA c.2431_2432delinsTC p.V811S Missense 24/30 - 1
17-42453469-AC-GG c.2431_2432delinsCC p.V811P Missense 24/30 - 1
17-42453469-AC-GT c.2431_2432inv p.V811T Missense 24/30 - 1
17-42453469-AC-TG c.2431_2432delinsCA p.V811Q Missense 24/30 - 1
17-42453469-AC-TT c.2431_2432delinsAA p.V811K Missense 24/30 - 1
17-42453469-A-G c.2432T>C p.V811A Missense 24/30 - 1
17-42453469-A-T c.2432T>A p.V811E Missense 24/30 - 1
17-42453470-C-A c.2431G>T p.V811L Missense 24/30 - 1
17-42453470-C-G c.2431G>C p.V811L Missense 24/30 - 1
17-42453470-C-T c.2431G>A p.V811M Missense 24/30 - 1
17-42453471-T-A c.2430A>T p.K810N Missense 24/30 - 1
17-42453471-T-G c.2430A>C p.K810N Missense 24/30 - 1
17-42453471-TT-CA c.2429_2430delinsTG p.K810M Missense 24/30 - 1
17-42453471-TT-GC c.2429_2430delinsGC p.K810S Missense 24/30 - 1
17-42453471-TTT-AAA c.2428_2430inv p.K810F Missense 24/30 - 1
17-42453471-TTT-ACA c.2428_2430delinsTGT p.K810C Missense 24/30 - 1
17-42453471-TTT-ATA c.2428_2430delinsTAT p.K810Y Missense 24/30 - 1
17-42453471-TTT-ATG c.2428_2430delinsCAT p.K810H Missense 24/30 - 1
17-42453471-TTT-CCA c.2428_2430delinsTGG p.K810W Missense 24/30 - 1
17-42453471-TTT-GTC c.2428_2430delinsGAC p.K810D Missense 24/30 - 1
17-42453472-T-A c.2429A>T p.K810I Missense 24/30 - 1
17-42453472-T-C c.2429A>G p.K810R Missense 24/30 - 1
17-42453472-T-G c.2429A>C p.K810T Missense 24/30 - 1
17-42453472-TT-AC c.2428_2429delinsGT p.K810V Missense 24/30 - 1
17-42453472-TT-AG c.2428_2429delinsCT p.K810L Missense 24/30 - 1
17-42453472-TT-CC c.2428_2429delinsGG p.K810G Missense 24/30 - 1
17-42453472-TT-GC c.2428_2429delinsGC p.K810A Missense 24/30 - 1
17-42453472-TT-GG c.2428_2429delinsCC p.K810P Missense 24/30 - 1
17-42453473-T-C c.2428A>G p.K810E Missense 24/30 - 1
17-42453473-T-G c.2428A>C p.K810Q Missense 24/30 - 1
17-42453474-GGG-CAT c.2425_2427delinsATG p.P809M Missense 24/30 - 1
17-42453474-GGG-CCA c.2425_2427delinsTGG p.P809W Missense 24/30 - 1
17-42453474-GGG-CTC c.2425_2427delinsGAG p.P809E Missense 24/30 - 1
17-42453474-GGG-CTT c.2425_2427delinsAAG p.P809K Missense 24/30 - 1
17-42453474-GG-TT c.2426_2427delinsAA p.P809Q Missense 24/30 - 1
17-42453475-G-A c.2426C>T p.P809L Missense 24/30 - 1
17-42453475-G-C c.2426C>G p.P809R Missense 24/30 - 1
17-42453475-GG-AA c.2425_2426delinsTT p.P809F Missense 24/30 - 1
17-42453475-GG-AC c.2425_2426delinsGT p.P809V Missense 24/30 - 1
17-42453475-GG-AT c.2425_2426delinsAT p.P809I Missense 24/30 - 1
17-42453475-GG-CA c.2425_2426delinsTG p.P809C Missense 24/30 - 1
17-42453475-GG-CC c.2425_2426inv p.P809G Missense 24/30 - 1
17-42453475-GG-TA c.2425_2426delinsTA p.P809Y Missense 24/30 - 1
17-42453475-GG-TC c.2425_2426delinsGA p.P809D Missense 24/30 - 1
17-42453475-GG-TT c.2425_2426delinsAA p.P809N Missense 24/30 - 1
17-42453475-G-T c.2426C>A p.P809H Missense 24/30 - 1
17-42453476-G-A c.2425C>T p.P809S Missense 24/30 - 1
17-42453476-G-C c.2425C>G p.P809A Missense 24/30 - 1
17-42453476-G-T c.2425C>A p.P809T Missense 24/30 - 1
17-42453477-TCC-AAA c.2422_2424delinsTTT p.G808F Missense 24/30 - 1
17-42453477-TCC-ACA c.2422_2424delinsTGT p.G808C Missense 24/30 - 1
17-42453477-TCC-ATA c.2422_2424delinsTAT p.G808Y Missense 24/30 - 1
17-42453477-TCC-ATG c.2422_2424delinsCAT p.G808H Missense 24/30 - 1
17-42453477-TCC-CAT c.2422_2424delinsATG p.G808M Missense 24/30 - 1
17-42453477-TCC-CCA c.2422_2424delinsTGG p.G808W Missense 24/30 - 1
17-42453477-TCC-GCT c.2422_2424delinsAGC p.G808S Missense 24/30 - 1
17-42453477-TCC-GTT c.2422_2424delinsAAC p.G808N Missense 24/30 - 1
17-42453477-TC-GT c.2423_2424delinsAC p.G808D Missense 24/30 - 1
17-42453478-C-A c.2423G>T p.G808V Missense 24/30 - 1
17-42453478-CC-AG c.2422_2423delinsCT p.G808L Missense 24/30 - 1
17-42453478-CC-AT c.2422_2423delinsAT p.G808I Missense 24/30 - 1
17-42453478-CC-GG c.2422_2423inv p.G808P Missense 24/30 - 1
17-42453478-CC-GT c.2422_2423delinsAC p.G808T Missense 24/30 - 1
17-42453478-CC-TG c.2422_2423delinsCA p.G808Q Missense 24/30 - 1
17-42453478-CC-TT c.2422_2423delinsAA p.G808K Missense 24/30 - 1
17-42453478-C-G c.2423G>C p.G808A Missense 24/30 - 1
17-42453478-C-T c.2423G>A p.G808E Missense 24/30 - 1
17-42453479-C-A c.2422G>T p.G808* Nonsense 24/30 - 1
17-42453479-C-G c.2422G>C p.G808R Missense 24/30 - 1
17-42453479-C-T c.2422G>A p.G808R Missense 24/30 - 2
17-42453480-C-A c.2421G>T p.W807C Missense 24/30 - 1
17-42453480-CC-AA c.2420_2421delinsTT p.W807F Missense 24/30 - 1
17-42453480-CCA-ATG c.2419_2421delinsCAT p.W807H Missense 24/30 - 1
17-42453480-CCA-GAT c.2419_2421delinsATC p.W807I Missense 24/30 - 1
17-42453480-CCA-GTC c.2419_2421delinsGAC p.W807D Missense 24/30 - 1
17-42453480-CCA-GTT c.2419_2421delinsAAC p.W807N Missense 24/30 - 1
17-42453480-CC-AT c.2420_2421delinsAT p.W807Y Missense 24/30 - 1
17-42453480-C-G c.2421G>C p.W807C Missense 24/30 - 1
17-42453481-C-A c.2420G>T p.W807L Missense 24/30 - 1
17-42453481-CA-AC c.2419_2420delinsGT p.W807V Missense 24/30 - 1
17-42453481-CA-AT c.2419_2420delinsAT p.W807M Missense 24/30 - 1
17-42453481-CA-GC c.2419_2420delinsGC p.W807A Missense 24/30 - 1
17-42453481-CA-GG c.2419_2420delinsCC p.W807P Missense 24/30 - 1
17-42453481-CA-GT c.2419_2420delinsAC p.W807T Missense 24/30 - 1
17-42453481-CA-TC c.2419_2420delinsGA p.W807E Missense 24/30 - 1
17-42453481-CA-TG c.2419_2420inv p.W807Q Missense 24/30 - 1
17-42453481-CA-TT c.2419_2420delinsAA p.W807K Missense 24/30 - 1
17-42453481-C-G c.2420G>C p.W807S Missense 24/30 - 1
17-42453482-A-C c.2419T>G p.W807G Missense 24/30 - 1
17-42453482-A-G c.2419T>C p.W807R Missense 24/30 - 1
17-42453482-A-T c.2419T>A p.W807R Missense 24/30 - 1
17-42453483-G-C c.2418C>G p.S806R Missense 24/30 - 2
17-42453483-GC-CA c.2417_2418delinsTG p.S806M Missense 24/30 - 1
17-42453483-GC-CT c.2417_2418delinsAG p.S806K Missense 24/30 - 1
17-42453483-GCT-CCA c.2416_2418delinsTGG p.S806W Missense 24/30 - 1
17-42453483-GCT-CTC c.2416_2418delinsGAG p.S806E Missense 24/30 - 1
17-42453483-GCT-TTG c.2416_2418delinsCAA p.S806Q Missense 24/30 - 1
17-42453483-G-T c.2418C>A p.S806R Missense 24/30 - 2
17-42453485-T-G c.2416A>C p.S806R Missense 24/30 - 2
17-42453484-C-A c.2417G>T p.S806I Missense 24/30 - 1
17-42453484-C-G c.2417G>C p.S806T Missense 24/30 - 1
17-42453484-C-T c.2417G>A p.S806N Missense 24/30 - 4
17-42453484-CT-AA c.2416_2417delinsTT p.S806F Missense 24/30 - 1
17-42453484-CT-AC c.2416_2417delinsGT p.S806V Missense 24/30 - 1
17-42453484-CT-AG c.2416_2417inv p.S806L Missense 24/30 - 1
17-42453484-CT-GC c.2416_2417delinsGC p.S806A Missense 24/30 - 1
17-42453484-CT-GG c.2416_2417delinsCC p.S806P Missense 24/30 - 1
17-42453484-CT-TA c.2416_2417delinsTA p.S806Y Missense 24/30 - 1
17-42453484-CT-TC c.2416_2417delinsGA p.S806D Missense 24/30 - 1
17-42453484-CT-TG c.2416_2417delinsCA p.S806H Missense 24/30 - 1
17-42453485-T-A c.2416A>T p.S806C Missense 24/30 - 1
17-42453485-T-C c.2416A>G p.S806G Missense 24/30 - 1
17-42453487-TC-T c.2413del p.D805Tfs*21 Frameshift 24/30 - 1
17-42453492-G-A c.2409C>T p.S803= Synonymous 24/30 - 1
17-42453494-T-C c.2407A>G p.S803G Missense 24/30 - 1
17-42453503-C-A c.2398G>T p.E800* Nonsense 24/30 - 1
17-42453505-C-A c.2396G>T p.R799M Missense 24/30 - 1
17-42453505-C-T c.2396G>A p.R799K Missense 24/30 - 2
17-42453507-C-A c.2394G>T p.E798D Missense 24/30 - 1
17-42453507-C-G c.2394G>C p.E798D Missense 24/30 - 1
17-42453510-A-T c.2391T>A p.G797= Synonymous 24/30 - 1
17-42453511-C-A c.2390G>T p.G797V Missense 24/30 - 1
17-42453511-C-T c.2390G>A p.G797D Missense 24/30 - 1
17-42453510-AC-A c.2390del p.G797Vfs*29 Frameshift 24/30 - 1
17-42453512-C-T c.2389G>A p.G797S Missense 24/30 - 1
17-42453516-T-A c.2385A>T p.E795D Missense 24/30 - 1
17-42453516-T-G c.2385A>C p.E795D Missense 24/30 - 1
17-42453511-CCTT-C c.2387_2389del p.E796del InFrameDeletion 24/30 - 1
17-42453518-C-T c.2383G>A p.E795K Missense 24/30 - 1
17-42453519-TGC-AAA c.2380_2382delinsTTT p.A794F Missense 24/30 - 1
17-42453519-TGC-ACA c.2380_2382delinsTGT p.A794C Missense 24/30 - 1
17-42453519-TGC-ATA c.2380_2382delinsTAT p.A794Y Missense 24/30 - 1
17-42453519-TGC-ATG c.2380_2382delinsCAT p.A794H Missense 24/30 - 1
17-42453519-TGC-CAT c.2380_2382delinsATG p.A794M Missense 24/30 - 1
17-42453519-TGC-CCA c.2380_2382delinsTGG p.A794W Missense 24/30 - 1
17-42453519-TGC-GTT c.2380_2382delinsAAC p.A794N Missense 24/30 - 1
17-42453519-TG-GT c.2381_2382delinsAC p.A794D Missense 24/30 - 1
17-42453520-G-A c.2381C>T p.A794V Missense 24/30 - 1
17-42453520-G-C c.2381C>G p.A794G Missense 24/30 - 1
17-42453520-GC-AG c.2380_2381delinsCT p.A794L Missense 24/30 - 1
17-42453520-GC-AT c.2380_2381delinsAT p.A794I Missense 24/30 - 1
17-42453520-GC-CT c.2380_2381delinsAG p.A794R Missense 24/30 - 1
17-42453520-GC-TG c.2380_2381delinsCA p.A794Q Missense 24/30 - 1
17-42453520-GC-TT c.2380_2381delinsAA p.A794K Missense 24/30 - 1
17-42453520-G-T c.2381C>A p.A794E Missense 24/30 - 1
17-42453521-C-A c.2380G>T p.A794S Missense 24/30 - 1
17-42453521-C-G c.2380G>C p.A794P Missense 24/30 - 1
17-42453521-C-T c.2380G>A p.A794T Missense 24/30 - 1
17-42453522-T-C c.2379A>G p.A793= Synonymous 24/30 - 1
17-42453522-TGC-AAA c.2377_2379delinsTTT p.A793F Missense 24/30 - 1
17-42453522-TGC-ACA c.2377_2379delinsTGT p.A793C Missense 24/30 - 1
17-42453522-TGC-ATA c.2377_2379delinsTAT p.A793Y Missense 24/30 - 1
17-42453522-TGC-ATG c.2377_2379delinsCAT p.A793H Missense 24/30 - 1
17-42453522-TGC-CAT c.2377_2379delinsATG p.A793M Missense 24/30 - 1
17-42453522-TGC-CCA c.2377_2379delinsTGG p.A793W Missense 24/30 - 1
17-42453522-TGC-GTT c.2377_2379delinsAAC p.A793N Missense 24/30 - 1
17-42453522-TG-GT c.2378_2379delinsAC p.A793D Missense 24/30 - 1
17-42453523-G-A c.2378C>T p.A793V Missense 24/30 - 1
17-42453523-G-C c.2378C>G p.A793G Missense 24/30 - 1
17-42453523-GC-AG c.2377_2378delinsCT p.A793L Missense 24/30 - 1
17-42453523-GC-AT c.2377_2378delinsAT p.A793I Missense 24/30 - 1
17-42453523-GC-CT c.2377_2378delinsAG p.A793R Missense 24/30 - 1
17-42453523-GC-TG c.2377_2378delinsCA p.A793Q Missense 24/30 - 1
17-42453523-GC-TT c.2377_2378delinsAA p.A793K Missense 24/30 - 1
17-42453523-G-T c.2378C>A p.A793E Missense 24/30 - 1
17-42453524-C-A c.2377G>T p.A793S Missense 24/30 - 1
17-42453524-C-G c.2377G>C p.A793P Missense 24/30 - 1
17-42453524-C-T c.2377G>A p.A793T Missense 24/30 - 1
17-42453525-C-A c.2376G>T p.V792= Synonymous 24/30 - 1
17-42453525-CAC-AAA c.2374_2376delinsTTT p.V792F Missense 24/30 - 1
17-42453525-CAC-ACA c.2374_2376delinsTGT p.V792C Missense 24/30 - 1
17-42453525-CAC-ATA c.2374_2376delinsTAT p.V792Y Missense 24/30 - 1
17-42453525-CAC-ATG c.2374_2376delinsCAT p.V792H Missense 24/30 - 1
17-42453525-CAC-GAT c.2374_2376delinsATC p.V792I Missense 24/30 - 1
17-42453525-CAC-GTT c.2374_2376delinsAAC p.V792N Missense 24/30 - 1
17-42453525-CA-GT c.2375_2376delinsAC p.V792D Missense 24/30 - 1
17-42453525-C-G c.2376G>C p.V792= Synonymous 24/30 - 1
17-42453525-C-T c.2376G>A p.V792= Synonymous 24/30 - 1
17-42453526-A-C c.2375T>G p.V792G Missense 24/30 - 1
17-42453526-AC-CA c.2374_2375delinsTG p.V792W Missense 24/30 - 1
17-42453526-AC-CT c.2374_2375delinsAG p.V792R Missense 24/30 - 1
17-42453526-AC-GA c.2374_2375delinsTC p.V792S Missense 24/30 - 1
17-42453526-AC-GG c.2374_2375delinsCC p.V792P Missense 24/30 - 1
17-42453526-AC-GT c.2374_2375inv p.V792T Missense 24/30 - 1
17-42453526-AC-TG c.2374_2375delinsCA p.V792Q Missense 24/30 - 1
17-42453526-AC-TT c.2374_2375delinsAA p.V792K Missense 24/30 - 1
17-42453526-A-G c.2375T>C p.V792A Missense 24/30 - 1
17-42453526-A-T c.2375T>A p.V792E Missense 24/30 - 1
17-42453527-C-A c.2374G>T p.V792L Missense 24/30 - 1
17-42453527-C-G c.2374G>C p.V792L Missense 24/30 - 1
17-42453527-C-T c.2374G>A p.V792M Missense 24/30 - 1
17-42453528-C-A c.2373G>T p.V791= Synonymous 24/30 - 1
17-42453528-CAC-AAA c.2371_2373delinsTTT p.V791F Missense 24/30 - 1
17-42453528-CAC-ACA c.2371_2373delinsTGT p.V791C Missense 24/30 - 1
17-42453528-CAC-ATA c.2371_2373delinsTAT p.V791Y Missense 24/30 - 1
17-42453528-CAC-ATG c.2371_2373delinsCAT p.V791H Missense 24/30 - 1
17-42453528-CAC-GAT c.2371_2373delinsATC p.V791I Missense 24/30 - 1
17-42453528-CAC-GTT c.2371_2373delinsAAC p.V791N Missense 24/30 - 1
17-42453528-CA-GT c.2372_2373delinsAC p.V791D Missense 24/30 - 1
17-42453528-C-G c.2373G>C p.V791= Synonymous 24/30 - 1
17-42453528-C-T c.2373G>A p.V791= Synonymous 24/30 - 1
17-42453529-A-C c.2372T>G p.V791G Missense 24/30 - 1
17-42453529-AC-CA c.2371_2372delinsTG p.V791W Missense 24/30 - 1
17-42453529-AC-CT c.2371_2372delinsAG p.V791R Missense 24/30 - 1
17-42453529-AC-GA c.2371_2372delinsTC p.V791S Missense 24/30 - 1
17-42453529-AC-GG c.2371_2372delinsCC p.V791P Missense 24/30 - 1
17-42453529-AC-GT c.2371_2372inv p.V791T Missense 24/30 - 1
17-42453529-AC-TG c.2371_2372delinsCA p.V791Q Missense 24/30 - 1
17-42453529-AC-TT c.2371_2372delinsAA p.V791K Missense 24/30 - 1
17-42453529-A-G c.2372T>C p.V791A Missense 24/30 - 1
17-42453529-A-T c.2372T>A p.V791E Missense 24/30 - 1
17-42453530-C-G c.2371G>C p.V791L Missense 24/30 - 3
17-42453530-C-T c.2371G>A p.V791M Missense 24/30 - 1
17-42453531-CA-AT c.2369_2370delinsAT p.L790H Missense 24/30 - 1
17-42453531-CAG-AAA c.2368_2370delinsTTT p.L790F Missense 24/30 - 1
17-42453531-CAG-ACA c.2368_2370delinsTGT p.L790C Missense 24/30 - 1
17-42453531-CAG-ATA c.2368_2370delinsTAT p.L790Y Missense 24/30 - 1
17-42453531-CAG-GAT c.2368_2370delinsATC p.L790I Missense 24/30 - 1
17-42453531-CAG-GTC c.2368_2370delinsGAC p.L790D Missense 24/30 - 1
17-42453531-CAG-GTT c.2368_2370delinsAAC p.L790N Missense 24/30 - 1
17-42453532-A-C c.2369T>G p.L790R Missense 24/30 - 1
17-42453532-A-G c.2369T>C p.L790P Missense 24/30 - 1
17-42453532-AG-CA c.2368_2369delinsTG p.L790W Missense 24/30 - 1
17-42453532-AG-CC c.2368_2369delinsGG p.L790G Missense 24/30 - 1
17-42453532-AG-GA c.2368_2369delinsTC p.L790S Missense 24/30 - 1
17-42453532-AG-GC c.2368_2369delinsGC p.L790A Missense 24/30 - 1
17-42453532-AG-GT c.2368_2369delinsAC p.L790T Missense 24/30 - 1
17-42453532-AG-TC c.2368_2369delinsGA p.L790E Missense 24/30 - 1
17-42453532-AG-TT c.2368_2369delinsAA p.L790K Missense 24/30 - 1
17-42453532-A-T c.2369T>A p.L790Q Missense 24/30 - 1
17-42453533-G-C c.2368C>G p.L790V Missense 24/30 - 1
17-42453533-G-T c.2368C>A p.L790M Missense 24/30 - 1
17-42453534-GGA-CAT c.2365_2367delinsATG p.S789M Missense 24/30 - 1
17-42453534-GGA-CTC c.2365_2367delinsGAG p.S789E Missense 24/30 - 1
17-42453534-GGA-CTT c.2365_2367delinsAAG p.S789K Missense 24/30 - 1
17-42453534-GGA-TTG c.2365_2367delinsCAA p.S789Q Missense 24/30 - 1
17-42453534-GG-CC c.2366_2367inv p.S789W Missense 24/30 - 1
17-42453535-G-A c.2366C>T p.S789F Missense 24/30 - 1
17-42453535-GA-AC c.2365_2366delinsGT p.S789V Missense 24/30 - 1
17-42453535-GA-AG c.2365_2366delinsCT p.S789L Missense 24/30 - 1
17-42453535-GA-AT c.2365_2366delinsAT p.S789I Missense 24/30 - 1
17-42453535-GA-CC c.2365_2366delinsGG p.S789G Missense 24/30 - 1
17-42453535-GA-CG c.2365_2366delinsCG p.S789R Missense 24/30 - 1
17-42453535-GA-TC c.2365_2366inv p.S789D Missense 24/30 - 1
17-42453535-GA-TG c.2365_2366delinsCA p.S789H Missense 24/30 - 1
17-42453535-GA-TT c.2365_2366delinsAA p.S789N Missense 24/30 - 1
17-42453535-G-C c.2366C>G p.S789C Missense 24/30 - 1
17-42453535-G-T c.2366C>A p.S789Y Missense 24/30 - 1
17-42453536-A-C c.2365T>G p.S789A Missense 24/30 - 1
17-42453536-A-G c.2365T>C p.S789P Missense 24/30 - 1
17-42453536-A-T c.2365T>A p.S789T Missense 24/30 - 1
17-42453537-GGC-CAT c.2362_2364delinsATG p.A788M Missense 24/30 - 1
17-42453537-GGC-CCA c.2362_2364delinsTGG p.A788W Missense 24/30 - 1
17-42453537-GGC-CTT c.2362_2364delinsAAG p.A788K Missense 24/30 - 1
17-42453537-GG-CT c.2363_2364delinsAG p.A788E Missense 24/30 - 1
17-42453537-GGC-TTG c.2362_2364delinsCAA p.A788Q Missense 24/30 - 1
17-42453538-G-A c.2363C>T p.A788V Missense 24/30 - 1
17-42453538-G-C c.2363C>G p.A788G Missense 24/30 - 1
17-42453538-GC-AA c.2362_2363delinsTT p.A788F Missense 24/30 - 1
17-42453538-GC-AG c.2362_2363delinsCT p.A788L Missense 24/30 - 1
17-42453538-GC-AT c.2362_2363delinsAT p.A788I Missense 24/30 - 1
17-42453538-GC-CA c.2362_2363delinsTG p.A788C Missense 24/30 - 1
17-42453538-GC-CG c.2362_2363delinsCG p.A788R Missense 24/30 - 1
17-42453538-GC-TA c.2362_2363delinsTA p.A788Y Missense 24/30 - 1
17-42453538-GC-TG c.2362_2363delinsCA p.A788H Missense 24/30 - 1
17-42453538-GC-TT c.2362_2363delinsAA p.A788N Missense 24/30 - 1
17-42453538-G-T c.2363C>A p.A788D Missense 24/30 - 5
17-42453539-C-A c.2362G>T p.A788S Missense 24/30 - 1
17-42453539-C-G c.2362G>C p.A788P Missense 24/30 - 1
17-42453539-C-T c.2362G>A p.A788T Missense 24/30 - 1
17-42453540-TG-AT c.2360_2361delinsAT p.P787H Missense 24/30 - 1
17-42453540-TGG-AAA c.2359_2361delinsTTT p.P787F Missense 24/30 - 1
17-42453540-TGG-ACA c.2359_2361delinsTGT p.P787C Missense 24/30 - 1
17-42453540-TGG-ATA c.2359_2361delinsTAT p.P787Y Missense 24/30 - 1
17-42453540-TGG-CAT c.2359_2361delinsATG p.P787M Missense 24/30 - 1
17-42453540-TGG-CCA c.2359_2361inv p.P787W Missense 24/30 - 1
17-42453540-TGG-GTC c.2359_2361delinsGAC p.P787D Missense 24/30 - 1
17-42453540-TGG-GTT c.2359_2361delinsAAC p.P787N Missense 24/30 - 1
17-42453541-G-A c.2360C>T p.P787L Missense 24/30 - 1
17-42453541-G-C c.2360C>G p.P787R Missense 24/30 - 1
17-42453541-GG-AC c.2359_2360delinsGT p.P787V Missense 24/30 - 1
17-42453541-GG-AT c.2359_2360delinsAT p.P787I Missense 24/30 - 1
17-42453541-GG-CC c.2359_2360inv p.P787G Missense 24/30 - 1
17-42453541-GG-TC c.2359_2360delinsGA p.P787E Missense 24/30 - 1
17-42453541-GG-TT c.2359_2360delinsAA p.P787K Missense 24/30 - 1
17-42453541-G-T c.2360C>A p.P787Q Missense 24/30 - 1
17-42453542-G-A c.2359C>T p.P787S Missense 24/30 - 1
17-42453542-G-C c.2359C>G p.P787A Missense 24/30 - 1
17-42453542-G-T c.2359C>A p.P787T Missense 24/30 - 1
17-42453543-AAA-CAT c.2356_2358delinsATG p.F786M Missense 24/30 - 1
17-42453543-AAA-CTC c.2356_2358delinsGAG p.F786E Missense 24/30 - 1
17-42453543-AAA-CTT c.2356_2358delinsAAG p.F786K Missense 24/30 - 1
17-42453543-AAA-TTG c.2356_2358delinsCAA p.F786Q Missense 24/30 - 1
17-42453543-AA-CC c.2357_2358delinsGG p.F786W Missense 24/30 - 1
17-42453544-AA-CC c.2356_2357delinsGG p.F786G Missense 24/30 - 1
17-42453544-AA-CG c.2356_2357delinsCG p.F786R Missense 24/30 - 1
17-42453544-AA-GC c.2356_2357delinsGC p.F786A Missense 24/30 - 1
17-42453544-AA-GG c.2356_2357delinsCC p.F786P Missense 24/30 - 1
17-42453544-AA-GT c.2356_2357delinsAC p.F786T Missense 24/30 - 1
17-42453544-AA-TC c.2356_2357delinsGA p.F786D Missense 24/30 - 1
17-42453544-AA-TG c.2356_2357delinsCA p.F786H Missense 24/30 - 1
17-42453544-AA-TT c.2356_2357inv p.F786N Missense 24/30 - 1
17-42453544-A-C c.2357T>G p.F786C Missense 24/30 - 1
17-42453544-A-G c.2357T>C p.F786S Missense 24/30 - 1
17-42453544-A-T c.2357T>A p.F786Y Missense 24/30 - 1
17-42453543-A-C c.2358T>G p.F786L Missense 24/30 - 1
17-42453543-A-T c.2358T>A p.F786L Missense 24/30 - 1
17-42453545-A-C c.2356T>G p.F786V Missense 24/30 - 1
17-42453545-A-G c.2356T>C p.F786L Missense 24/30 - 1
17-42453545-A-T c.2356T>A p.F786I Missense 24/30 - 1
17-42453546-G-A c.2355C>T p.S785= Synonymous 24/30 - 2
17-42453546-G-C c.2355C>G p.S785= Synonymous 24/30 - 2
17-42453546-GGA-CAT c.2353_2355delinsATG p.S785M Missense 24/30 - 1
17-42453546-GGA-CTC c.2353_2355delinsGAG p.S785E Missense 24/30 - 1
17-42453546-GGA-CTT c.2353_2355delinsAAG p.S785K Missense 24/30 - 1
17-42453546-GGA-TTG c.2353_2355delinsCAA p.S785Q Missense 24/30 - 1
17-42453546-GG-CC c.2354_2355inv p.S785W Missense 24/30 - 1
17-42453546-G-T c.2355C>A p.S785= Synonymous 24/30 - 2
17-42453547-G-A c.2354C>T p.S785F Missense 24/30 - 1
17-42453547-GA-AC c.2353_2354delinsGT p.S785V Missense 24/30 - 1
17-42453547-GA-AG c.2353_2354delinsCT p.S785L Missense 24/30 - 1
17-42453547-GA-AT c.2353_2354delinsAT p.S785I Missense 24/30 - 1
17-42453547-GA-CC c.2353_2354delinsGG p.S785G Missense 24/30 - 1
17-42453547-GA-CG c.2353_2354delinsCG p.S785R Missense 24/30 - 1
17-42453547-GA-TC c.2353_2354inv p.S785D Missense 24/30 - 1
17-42453547-GA-TG c.2353_2354delinsCA p.S785H Missense 24/30 - 1
17-42453547-GA-TT c.2353_2354delinsAA p.S785N Missense 24/30 - 1
17-42453547-G-C c.2354C>G p.S785C Missense 24/30 - 1
17-42453547-G-T c.2354C>A p.S785Y Missense 24/30 - 1
17-42453548-A-C c.2353T>G p.S785A Missense 24/30 - 1
17-42453548-A-G c.2353T>C p.S785P Missense 24/30 - 1
17-42453548-A-T c.2353T>A p.S785T Missense 24/30 - 1
17-42453549-G-A c.2352C>T p.N784= Synonymous 24/30 - 1
17-42453549-G-C c.2352C>G p.N784K Missense 24/30 - 1
17-42453549-G-T c.2352C>A p.N784K Missense 24/30 - 1
17-42453549-GT-CA c.2351_2352delinsTG p.N784M Missense 24/30 - 1
17-42453549-GT-CC c.2351_2352delinsGG p.N784R Missense 24/30 - 1
17-42453549-GTT-CCA c.2350_2352delinsTGG p.N784W Missense 24/30 - 1
17-42453549-GTT-CTC c.2350_2352delinsGAG p.N784E Missense 24/30 - 1
17-42453549-GTT-TTG c.2350_2352delinsCAA p.N784Q Missense 24/30 - 1
17-42453550-T-A c.2351A>T p.N784I Missense 24/30 - 1
17-42453550-T-C c.2351A>G p.N784S Missense 24/30 - 1
17-42453550-T-G c.2351A>C p.N784T Missense 24/30 - 1
17-42453550-TT-AA c.2350_2351inv p.N784F Missense 24/30 - 1
17-42453550-TT-AC c.2350_2351delinsGT p.N784V Missense 24/30 - 1
17-42453550-TT-AG c.2350_2351delinsCT p.N784L Missense 24/30 - 1
17-42453550-TT-CA c.2350_2351delinsTG p.N784C Missense 24/30 - 1
17-42453550-TT-CC c.2350_2351delinsGG p.N784G Missense 24/30 - 1
17-42453550-TT-GC c.2350_2351delinsGC p.N784A Missense 24/30 - 1
17-42453550-TT-GG c.2350_2351delinsCC p.N784P Missense 24/30 - 1
17-42453551-T-A c.2350A>T p.N784Y Missense 24/30 - 1
17-42453551-T-C c.2350A>G p.N784D Missense 24/30 - 1
17-42453551-T-G c.2350A>C p.N784H Missense 24/30 - 1
17-42453552-C-T c.2349G>A p.G783= Synonymous 24/30 - 1
17-42453663-C-A c.2348+13G>T - IntronicSNV - 23/29 1
17-42453671-C-G c.2348+5G>C - IntronicSNV - 23/29 1
17-42453676-C-A c.2348G>T p.G783V Missense 23/30 - 1
17-42453676-CC-AG c.2347_2348delinsCT p.G783L Missense 23/30 - 1
17-42453676-CC-AT c.2347_2348delinsAT p.G783M Missense 23/30 - 1
17-42453676-CC-GG c.2347_2348inv p.G783P Missense 23/30 - 1
17-42453676-CC-GT c.2347_2348delinsAC p.G783T Missense 23/30 - 1
17-42453676-CC-TG c.2347_2348delinsCA p.G783Q Missense 23/30 - 1
17-42453676-CC-TT c.2347_2348delinsAA p.G783K Missense 23/30 - 1
17-42453676-C-G c.2348G>C p.G783A Missense 23/30 - 2
17-42453676-C-T c.2348G>A p.G783E Missense 23/30 - 1
17-42453677-C-A c.2347G>T p.G783W Missense 23/30 - 1
17-42453677-C-G c.2347G>C p.G783R Missense 23/30 - 1
17-42453677-C-T c.2347G>A p.G783R Missense 23/30 - 1
17-42453678-TC-AT c.2345_2346delinsAT p.R782H Missense 23/30 - 1
17-42453678-TCG-AAA c.2344_2346delinsTTT p.R782F Missense 23/30 - 1
17-42453678-TCG-ACA c.2344_2346delinsTGT p.R782C Missense 23/30 - 1
17-42453678-TCG-ATA c.2344_2346delinsTAT p.R782Y Missense 23/30 - 1
17-42453678-TCG-CAT c.2344_2346delinsATG p.R782M Missense 23/30 - 1
17-42453678-TCG-CCA c.2344_2346delinsTGG p.R782W Missense 23/30 - 1
17-42453678-TCG-GCT c.2344_2346delinsAGC p.R782S Missense 23/30 - 1
17-42453678-TCG-GTC c.2344_2346delinsGAC p.R782D Missense 23/30 - 1
17-42453678-TCG-GTT c.2344_2346delinsAAC p.R782N Missense 23/30 - 1
17-42453679-C-A c.2345G>T p.R782L Missense 23/30 - 2
17-42453679-C-G c.2345G>C p.R782P Missense 23/30 - 1
17-42453679-CG-AC c.2344_2345delinsGT p.R782V Missense 23/30 - 1
17-42453679-CG-AT c.2344_2345delinsAT p.R782I Missense 23/30 - 1
17-42453679-CG-GC c.2344_2345delinsGC p.R782A Missense 23/30 - 1
17-42453679-CG-GT c.2344_2345delinsAC p.R782T Missense 23/30 - 1
17-42453679-CG-TC c.2344_2345delinsGA p.R782E Missense 23/30 - 1
17-42453679-CG-TT c.2344_2345delinsAA p.R782K Missense 23/30 - 1
17-42453679-C-T c.2345G>A p.R782Q Missense 23/30 - 1
17-42453680-G-A c.2344C>T p.R782* Nonsense 23/30 - 3
17-42453680-G-C c.2344C>G p.R782G Missense 23/30 - 1
17-42453681-C-A c.2343G>T p.L781= Synonymous 23/30 - 1
17-42453681-CA-AT c.2342_2343delinsAT p.L781H Missense 23/30 - 1
17-42453681-CAG-AAA c.2341_2343delinsTTT p.L781F Missense 23/30 - 1
17-42453681-CAG-ACA c.2341_2343delinsTGT p.L781C Missense 23/30 - 1
17-42453681-CAG-ATA c.2341_2343delinsTAT p.L781Y Missense 23/30 - 1
17-42453681-CAG-GAT c.2341_2343delinsATC p.L781I Missense 23/30 - 1
17-42453681-CAG-GTC c.2341_2343delinsGAC p.L781D Missense 23/30 - 1
17-42453681-CAG-GTT c.2341_2343delinsAAC p.L781N Missense 23/30 - 1
17-42453681-C-G c.2343G>C p.L781= Synonymous 23/30 - 1
17-42453681-C-T c.2343G>A p.L781= Synonymous 23/30 - 1
17-42453683-G-A c.2341C>T p.L781= Synonymous 23/30 - 1
17-42453682-A-C c.2342T>G p.L781R Missense 23/30 - 1
17-42453682-A-G c.2342T>C p.L781P Missense 23/30 - 1
17-42453682-AG-CA c.2341_2342delinsTG p.L781W Missense 23/30 - 1
17-42453682-AG-CC c.2341_2342delinsGG p.L781G Missense 23/30 - 1
17-42453682-AG-GA c.2341_2342delinsTC p.L781S Missense 23/30 - 1
17-42453682-AG-GC c.2341_2342delinsGC p.L781A Missense 23/30 - 1
17-42453682-AG-GT c.2341_2342delinsAC p.L781T Missense 23/30 - 1
17-42453682-AG-TC c.2341_2342delinsGA p.L781E Missense 23/30 - 1
17-42453682-AG-TT c.2341_2342delinsAA p.L781K Missense 23/30 - 1
17-42453682-A-T c.2342T>A p.L781Q Missense 23/30 - 1
17-42453683-G-C c.2341C>G p.L781V Missense 23/30 - 3
17-42453683-G-T c.2341C>A p.L781M Missense 23/30 - 1
17-42453684-C-A c.2340G>T p.E780D Missense 23/30 - 1
17-42453684-C-G c.2340G>C p.E780D Missense 23/30 - 1
17-42453684-CTC-AAA c.2338_2340delinsTTT p.E780F Missense 23/30 - 1
17-42453684-CTC-ACA c.2338_2340delinsTGT p.E780C Missense 23/30 - 1
17-42453684-CTC-ATA c.2338_2340delinsTAT p.E780Y Missense 23/30 - 1
17-42453684-CTC-ATG c.2338_2340delinsCAT p.E780H Missense 23/30 - 1
17-42453684-CTC-GAT c.2338_2340delinsATC p.E780I Missense 23/30 - 1
17-42453684-CTC-GTT c.2338_2340delinsAAC p.E780N Missense 23/30 - 1
17-42453685-T-A c.2339A>T p.E780V Missense 23/30 - 1
17-42453685-T-C c.2339A>G p.E780G Missense 23/30 - 1
17-42453685-TC-AG c.2338_2339delinsCT p.E780L Missense 23/30 - 1
17-42453685-TC-AT c.2338_2339delinsAT p.E780M Missense 23/30 - 1
17-42453685-TC-CA c.2338_2339delinsTG p.E780W Missense 23/30 - 1
17-42453685-TC-CT c.2338_2339delinsAG p.E780R Missense 23/30 - 1
17-42453685-TC-GA c.2338_2339inv p.E780S Missense 23/30 - 1
17-42453685-TC-GG c.2338_2339delinsCC p.E780P Missense 23/30 - 1
17-42453685-TC-GT c.2338_2339delinsAC p.E780T Missense 23/30 - 1
17-42453685-T-G c.2339A>C p.E780A Missense 23/30 - 1
17-42453686-C-G c.2338G>C p.E780Q Missense 23/30 - 1
17-42453686-C-T c.2338G>A p.E780K Missense 23/30 - 1
17-42453687-CAC-AAA c.2335_2337delinsTTT p.V779F Missense 23/30 - 1
17-42453687-CAC-ACA c.2335_2337delinsTGT p.V779C Missense 23/30 - 1
17-42453687-CAC-ATA c.2335_2337delinsTAT p.V779Y Missense 23/30 - 1
17-42453687-CAC-ATG c.2335_2337delinsCAT p.V779H Missense 23/30 - 1
17-42453687-CAC-GAT c.2335_2337delinsATC p.V779I Missense 23/30 - 1
17-42453687-CAC-GTT c.2335_2337delinsAAC p.V779N Missense 23/30 - 1
17-42453687-CA-GT c.2336_2337delinsAC p.V779D Missense 23/30 - 1
17-42453688-A-C c.2336T>G p.V779G Missense 23/30 - 1
17-42453688-AC-CA c.2335_2336delinsTG p.V779W Missense 23/30 - 1
17-42453688-AC-CT c.2335_2336delinsAG p.V779R Missense 23/30 - 1
17-42453688-AC-GA c.2335_2336delinsTC p.V779S Missense 23/30 - 1
17-42453688-AC-GG c.2335_2336delinsCC p.V779P Missense 23/30 - 1
17-42453688-AC-GT c.2335_2336inv p.V779T Missense 23/30 - 1
17-42453688-AC-TG c.2335_2336delinsCA p.V779Q Missense 23/30 - 1
17-42453688-AC-TT c.2335_2336delinsAA p.V779K Missense 23/30 - 1
17-42453688-A-G c.2336T>C p.V779A Missense 23/30 - 2
17-42453688-A-T c.2336T>A p.V779E Missense 23/30 - 1
17-42453689-C-A c.2335G>T p.V779L Missense 23/30 - 1
17-42453689-C-G c.2335G>C p.V779L Missense 23/30 - 1
17-42453689-C-T c.2335G>A p.V779M Missense 23/30 - 1
17-42453690-T-A c.2334A>T p.Q778H Missense 23/30 - 1
17-42453690-T-C c.2334A>G p.Q778= Synonymous 23/30 - 2
17-42453690-T-G c.2334A>C p.Q778H Missense 23/30 - 1
17-42453690-TTG-AAA c.2332_2334delinsTTT p.Q778F Missense 23/30 - 1
17-42453690-TTG-ACA c.2332_2334delinsTGT p.Q778C Missense 23/30 - 1
17-42453690-TTG-ATA c.2332_2334delinsTAT p.Q778Y Missense 23/30 - 1
17-42453690-TTG-CAT c.2332_2334delinsATG p.Q778M Missense 23/30 - 1
17-42453690-TTG-CCA c.2332_2334delinsTGG p.Q778W Missense 23/30 - 1
17-42453690-TTG-GTC c.2332_2334delinsGAC p.Q778D Missense 23/30 - 1
17-42453690-TTG-GTT c.2332_2334delinsAAC p.Q778N Missense 23/30 - 1
17-42453691-T-A c.2333A>T p.Q778L Missense 23/30 - 1
17-42453691-T-C c.2333A>G p.Q778R Missense 23/30 - 1
17-42453691-T-G c.2333A>C p.Q778P Missense 23/30 - 10
17-42453691-TG-AC c.2332_2333delinsGT p.Q778V Missense 23/30 - 1
17-42453691-TG-AT c.2332_2333delinsAT p.Q778I Missense 23/30 - 1
17-42453691-TG-CC c.2332_2333delinsGG p.Q778G Missense 23/30 - 1
17-42453691-TG-GA c.2332_2333delinsTC p.Q778S Missense 23/30 - 1
17-42453691-TG-GC c.2332_2333delinsGC p.Q778A Missense 23/30 - 1
17-42453691-TG-GT c.2332_2333delinsAC p.Q778T Missense 23/30 - 1
17-42453692-G-C c.2332C>G p.Q778E Missense 23/30 - 1
17-42453692-G-T c.2332C>A p.Q778K Missense 23/30 - 1
17-42453693-GGC-CAT c.2329_2331delinsATG p.A777M Missense 23/30 - 1
17-42453693-GGC-CCA c.2329_2331delinsTGG p.A777W Missense 23/30 - 1
17-42453693-GGC-CTT c.2329_2331delinsAAG p.A777K Missense 23/30 - 1
17-42453693-GG-CT c.2330_2331delinsAG p.A777E Missense 23/30 - 1
17-42453693-GGC-TTG c.2329_2331delinsCAA p.A777Q Missense 23/30 - 1
17-42453694-G-A c.2330C>T p.A777V Missense 23/30 - 2
17-42453694-G-C c.2330C>G p.A777G Missense 23/30 - 1
17-42453694-GC-AA c.2329_2330delinsTT p.A777F Missense 23/30 - 1
17-42453694-GC-AG c.2329_2330delinsCT p.A777L Missense 23/30 - 1
17-42453694-GC-AT c.2329_2330delinsAT p.A777I Missense 23/30 - 1
17-42453694-GC-CA c.2329_2330delinsTG p.A777C Missense 23/30 - 1
17-42453694-GC-CG c.2329_2330delinsCG p.A777R Missense 23/30 - 1
17-42453694-GC-TA c.2329_2330delinsTA p.A777Y Missense 23/30 - 1
17-42453694-GC-TG c.2329_2330delinsCA p.A777H Missense 23/30 - 1
17-42453694-GC-TT c.2329_2330delinsAA p.A777N Missense 23/30 - 1
17-42453694-G-T c.2330C>A p.A777D Missense 23/30 - 1
17-42453695-C-A c.2329G>T p.A777S Missense 23/30 - 1
17-42453695-C-G c.2329G>C p.A777P Missense 23/30 - 1
17-42453695-C-T c.2329G>A p.A777T Missense 23/30 - 1
17-42453696-C-A c.2328G>T p.E776D Missense 23/30 - 1
17-42453696-C-G c.2328G>C p.E776D Missense 23/30 - 1
17-42453696-CTC-AAA c.2326_2328delinsTTT p.E776F Missense 23/30 - 1
17-42453696-CTC-ACA c.2326_2328delinsTGT p.E776C Missense 23/30 - 1
17-42453696-CTC-ATA c.2326_2328delinsTAT p.E776Y Missense 23/30 - 1
17-42453696-CTC-ATG c.2326_2328delinsCAT p.E776H Missense 23/30 - 1
17-42453696-CTC-GAT c.2326_2328delinsATC p.E776I Missense 23/30 - 1
17-42453696-CTC-GTT c.2326_2328delinsAAC p.E776N Missense 23/30 - 1
17-42453697-T-A c.2327A>T p.E776V Missense 23/30 - 1
17-42453697-T-C c.2327A>G p.E776G Missense 23/30 - 2
17-42453697-TC-AG c.2326_2327delinsCT p.E776L Missense 23/30 - 1
17-42453697-TC-AT c.2326_2327delinsAT p.E776M Missense 23/30 - 1
17-42453697-TC-CA c.2326_2327delinsTG p.E776W Missense 23/30 - 1
17-42453697-TC-CT c.2326_2327delinsAG p.E776R Missense 23/30 - 1
17-42453697-TC-GA c.2326_2327inv p.E776S Missense 23/30 - 1
17-42453697-TC-GG c.2326_2327delinsCC p.E776P Missense 23/30 - 1
17-42453697-TC-GT c.2326_2327delinsAC p.E776T Missense 23/30 - 1
17-42453697-T-G c.2327A>C p.E776A Missense 23/30 - 1
17-42453698-C-G c.2326G>C p.E776Q Missense 23/30 - 4
17-42453698-C-T c.2326G>A p.E776K Missense 23/30 - 1
17-42453699-TGC-AAA c.2323_2325delinsTTT p.A775F Missense 23/30 - 1
17-42453699-TGC-ACA c.2323_2325delinsTGT p.A775C Missense 23/30 - 1
17-42453699-TGC-ATA c.2323_2325delinsTAT p.A775Y Missense 23/30 - 1
17-42453699-TGC-ATG c.2323_2325delinsCAT p.A775H Missense 23/30 - 1
17-42453699-TGC-CAT c.2323_2325delinsATG p.A775M Missense 23/30 - 1
17-42453699-TGC-CCA c.2323_2325delinsTGG p.A775W Missense 23/30 - 1
17-42453699-TGC-GTT c.2323_2325delinsAAC p.A775N Missense 23/30 - 1
17-42453699-TG-GT c.2324_2325delinsAC p.A775D Missense 23/30 - 1
17-42453700-G-A c.2324C>T p.A775V Missense 23/30 - 1
17-42453700-G-C c.2324C>G p.A775G Missense 23/30 - 1
17-42453700-GC-AG c.2323_2324delinsCT p.A775L Missense 23/30 - 1
17-42453700-GC-AT c.2323_2324delinsAT p.A775I Missense 23/30 - 1
17-42453700-GC-CT c.2323_2324delinsAG p.A775R Missense 23/30 - 1
17-42453700-GC-TG c.2323_2324delinsCA p.A775Q Missense 23/30 - 1
17-42453700-GC-TT c.2323_2324delinsAA p.A775K Missense 23/30 - 1
17-42453700-G-T c.2324C>A p.A775E Missense 23/30 - 1
17-42453701-C-A c.2323G>T p.A775S Missense 23/30 - 1
17-42453701-C-G c.2323G>C p.A775P Missense 23/30 - 1
17-42453701-C-T c.2323G>A p.A775T Missense 23/30 - 2
17-42453702-CC-AT c.2321_2322delinsAT p.R774H Missense 23/30 - 1
17-42453702-CCG-AAA c.2320_2322delinsTTT p.R774F Missense 23/30 - 1
17-42453702-CCG-ACA c.2320_2322delinsTGT p.R774C Missense 23/30 - 1
17-42453702-CCG-ATA c.2320_2322delinsTAT p.R774Y Missense 23/30 - 1
17-42453702-CCG-GAT c.2320_2322delinsATC p.R774I Missense 23/30 - 1
17-42453702-CCG-GCT c.2320_2322delinsAGC p.R774S Missense 23/30 - 1
17-42453702-CCG-GTC c.2320_2322delinsGAC p.R774D Missense 23/30 - 1
17-42453702-CCG-GTT c.2320_2322delinsAAC p.R774N Missense 23/30 - 1
17-42453703-C-A c.2321G>T p.R774L Missense 23/30 - 1
17-42453703-C-G c.2321G>C p.R774P Missense 23/30 - 1
17-42453703-CG-AC c.2320_2321delinsGT p.R774V Missense 23/30 - 1
17-42453703-CG-AT c.2320_2321delinsAT p.R774M Missense 23/30 - 1
17-42453703-CG-GC c.2320_2321delinsGC p.R774A Missense 23/30 - 1
17-42453703-CG-GT c.2320_2321delinsAC p.R774T Missense 23/30 - 1
17-42453703-CG-TC c.2320_2321delinsGA p.R774E Missense 23/30 - 1
17-42453703-CG-TT c.2320_2321delinsAA p.R774K Missense 23/30 - 1
17-42453703-C-T c.2321G>A p.R774Q Missense 23/30 - 2
17-42453704-G-A c.2320C>T p.R774W Missense 23/30 - 5
17-42453704-G-C c.2320C>G p.R774G Missense 23/30 - 1
17-42453705-GAC-CAT c.2317_2319delinsATG p.V773M Missense 23/30 - 1
17-42453705-GAC-CCA c.2317_2319delinsTGG p.V773W Missense 23/30 - 1
17-42453705-GAC-CTT c.2317_2319delinsAAG p.V773K Missense 23/30 - 1
17-42453705-GA-CT c.2318_2319delinsAG p.V773E Missense 23/30 - 1
17-42453705-GAC-TTG c.2317_2319delinsCAA p.V773Q Missense 23/30 - 1
17-42453706-A-C c.2318T>G p.V773G Missense 23/30 - 1
17-42453706-AC-CA c.2317_2318delinsTG p.V773C Missense 23/30 - 1
17-42453706-AC-CG c.2317_2318delinsCG p.V773R Missense 23/30 - 1
17-42453706-AC-CT c.2317_2318delinsAG p.V773S Missense 23/30 - 1
17-42453706-AC-GG c.2317_2318delinsCC p.V773P Missense 23/30 - 1
17-42453706-AC-GT c.2317_2318inv p.V773T Missense 23/30 - 1
17-42453706-AC-TA c.2317_2318delinsTA p.V773Y Missense 23/30 - 1
17-42453706-AC-TG c.2317_2318delinsCA p.V773H Missense 23/30 - 1
17-42453706-AC-TT c.2317_2318delinsAA p.V773N Missense 23/30 - 1
17-42453706-A-G c.2318T>C p.V773A Missense 23/30 - 1
17-42453706-A-T c.2318T>A p.V773D Missense 23/30 - 2
17-42453707-C-A c.2317G>T p.V773F Missense 23/30 - 1
17-42453707-C-G c.2317G>C p.V773L Missense 23/30 - 1
17-42453707-C-T c.2317G>A p.V773I Missense 23/30 - 1
17-42453708-C-A c.2316G>T p.P772= Synonymous 23/30 - 1
17-42453708-C-G c.2316G>C p.P772= Synonymous 23/30 - 1
17-42453708-CG-AT c.2315_2316delinsAT p.P772H Missense 23/30 - 1
17-42453708-CGG-AAA c.2314_2316delinsTTT p.P772F Missense 23/30 - 1
17-42453708-CGG-ACA c.2314_2316delinsTGT p.P772C Missense 23/30 - 1
17-42453708-CGG-ATA c.2314_2316delinsTAT p.P772Y Missense 23/30 - 1
17-42453708-CGG-GAT c.2314_2316delinsATC p.P772I Missense 23/30 - 1
17-42453708-CGG-GTC c.2314_2316delinsGAC p.P772D Missense 23/30 - 1
17-42453708-CGG-GTT c.2314_2316delinsAAC p.P772N Missense 23/30 - 1
17-42453708-C-T c.2316G>A p.P772= Synonymous 23/30 - 1
17-42453709-G-A c.2315C>T p.P772L Missense 23/30 - 1
17-42453709-G-C c.2315C>G p.P772R Missense 23/30 - 4
17-42453709-GG-AC c.2314_2315delinsGT p.P772V Missense 23/30 - 1
17-42453709-GG-AT c.2314_2315delinsAT p.P772M Missense 23/30 - 1
17-42453709-GG-CA c.2314_2315delinsTG p.P772W Missense 23/30 - 1
17-42453709-GG-CC c.2314_2315inv p.P772G Missense 23/30 - 1
17-42453709-GG-TC c.2314_2315delinsGA p.P772E Missense 23/30 - 1
17-42453709-GG-TT c.2314_2315delinsAA p.P772K Missense 23/30 - 1
17-42453709-G-T c.2315C>A p.P772Q Missense 23/30 - 3
17-42453710-G-A c.2314C>T p.P772S Missense 23/30 - 1
17-42453710-G-C c.2314C>G p.P772A Missense 23/30 - 1
17-42453710-G-T c.2314C>A p.P772T Missense 23/30 - 1
17-42453711-CAC-AAA c.2311_2313delinsTTT p.V771F Missense 23/30 - 1
17-42453711-CAC-ACA c.2311_2313delinsTGT p.V771C Missense 23/30 - 1
17-42453711-CAC-ATA c.2311_2313delinsTAT p.V771Y Missense 23/30 - 1
17-42453711-CAC-ATG c.2311_2313delinsCAT p.V771H Missense 23/30 - 1
17-42453711-CAC-GAT c.2311_2313delinsATC p.V771I Missense 23/30 - 1
17-42453711-CAC-GTT c.2311_2313delinsAAC p.V771N Missense 23/30 - 1
17-42453711-CA-GT c.2312_2313delinsAC p.V771D Missense 23/30 - 1
17-42453712-A-C c.2312T>G p.V771G Missense 23/30 - 1
17-42453712-AC-CA c.2311_2312delinsTG p.V771W Missense 23/30 - 1
17-42453712-AC-CT c.2311_2312delinsAG p.V771R Missense 23/30 - 1
17-42453712-AC-GA c.2311_2312delinsTC p.V771S Missense 23/30 - 1
17-42453712-AC-GG c.2311_2312delinsCC p.V771P Missense 23/30 - 1
17-42453712-AC-GT c.2311_2312inv p.V771T Missense 23/30 - 1
17-42453712-AC-TG c.2311_2312delinsCA p.V771Q Missense 23/30 - 1
17-42453712-AC-TT c.2311_2312delinsAA p.V771K Missense 23/30 - 1
17-42453712-A-G c.2312T>C p.V771A Missense 23/30 - 2
17-42453712-A-T c.2312T>A p.V771E Missense 23/30 - 1
17-42453713-C-A c.2311G>T p.V771L Missense 23/30 - 1
17-42453713-C-G c.2311G>C p.V771L Missense 23/30 - 1
17-42453713-C-T c.2311G>A p.V771M Missense 23/30 - 2
17-42453714-G-C c.2310C>G p.D770E Missense 23/30 - 1
17-42453714-G-T c.2310C>A p.D770E Missense 23/30 - 1
17-42453714-GTC-CAT c.2308_2310delinsATG p.D770M Missense 23/30 - 1
17-42453714-GTC-CCA c.2308_2310delinsTGG p.D770W Missense 23/30 - 1
17-42453714-GTC-CTT c.2308_2310delinsAAG p.D770K Missense 23/30 - 1
17-42453714-GTC-TTG c.2308_2310delinsCAA p.D770Q Missense 23/30 - 1
17-42453715-T-A c.2309A>T p.D770V Missense 23/30 - 1
17-42453715-T-C c.2309A>G p.D770G Missense 23/30 - 1
17-42453715-TC-AA c.2308_2309delinsTT p.D770F Missense 23/30 - 1
17-42453715-TC-AG c.2308_2309delinsCT p.D770L Missense 23/30 - 1
17-42453715-TC-AT c.2308_2309delinsAT p.D770I Missense 23/30 - 1
17-42453715-TC-CA c.2308_2309delinsTG p.D770C Missense 23/30 - 1
17-42453715-TC-CG c.2308_2309delinsCG p.D770R Missense 23/30 - 1
17-42453715-TC-CT c.2308_2309delinsAG p.D770S Missense 23/30 - 1
17-42453715-TC-GG c.2308_2309delinsCC p.D770P Missense 23/30 - 1
17-42453715-TC-GT c.2308_2309delinsAC p.D770T Missense 23/30 - 1
17-42453715-T-G c.2309A>C p.D770A Missense 23/30 - 1
17-42453716-C-A c.2308G>T p.D770Y Missense 23/30 - 1
17-42453716-C-G c.2308G>C p.D770H Missense 23/30 - 1
17-42453716-C-T c.2308G>A p.D770N Missense 23/30 - 1
17-42453717-CA-AT c.2306_2307delinsAT p.L769H Missense 23/30 - 1
17-42453717-CAG-AAA c.2305_2307delinsTTT p.L769F Missense 23/30 - 1
17-42453717-CAG-ACA c.2305_2307delinsTGT p.L769C Missense 23/30 - 1
17-42453717-CAG-ATA c.2305_2307delinsTAT p.L769Y Missense 23/30 - 1
17-42453717-CAG-GAT c.2305_2307delinsATC p.L769I Missense 23/30 - 1
17-42453717-CAG-GTC c.2305_2307delinsGAC p.L769D Missense 23/30 - 1
17-42453717-CAG-GTT c.2305_2307delinsAAC p.L769N Missense 23/30 - 1
17-42453718-A-C c.2306T>G p.L769R Missense 23/30 - 1
17-42453718-A-G c.2306T>C p.L769P Missense 23/30 - 1
17-42453718-AG-CA c.2305_2306delinsTG p.L769W Missense 23/30 - 1
17-42453718-AG-CC c.2305_2306delinsGG p.L769G Missense 23/30 - 1
17-42453718-AG-GA c.2305_2306delinsTC p.L769S Missense 23/30 - 1
17-42453718-AG-GC c.2305_2306delinsGC p.L769A Missense 23/30 - 1
17-42453718-AG-GT c.2305_2306delinsAC p.L769T Missense 23/30 - 1
17-42453718-AG-TC c.2305_2306delinsGA p.L769E Missense 23/30 - 1
17-42453718-AG-TT c.2305_2306delinsAA p.L769K Missense 23/30 - 1
17-42453718-A-T c.2306T>A p.L769Q Missense 23/30 - 1
17-42453719-G-C c.2305C>G p.L769V Missense 23/30 - 1
17-42453719-G-T c.2305C>A p.L769M Missense 23/30 - 1
17