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 |