Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
12-123638930-G-A | c.*2424C>T | - | IntergenicSNV | 24/24 | - | 2 |
12-123638930-G-T | c.*2424C>A | - | IntergenicSNV | 24/24 | - | 2 |
12-123640664-C-A | c.*690G>T | - | IntergenicSNV | 24/24 | - | 1 |
12-123640853-C-G | c.*501G>C | - | IntergenicSNV | 24/24 | - | 15 |
12-123641200-C-T | c.*154G>A | - | 3-UTRSNV | 24/24 | - | 7 |
12-123641359-G-A | c.3547C>T | p.L1183F | Missense | 24/24 | - | 1 |
12-123641359-G-T | c.3547C>A | p.L1183I | Missense | 24/24 | - | 1 |
12-123641363-T-C | c.3543A>G | p.A1181= | Synonymous | 24/24 | - | 2 |
12-123641367-G-A | c.3539C>T | p.S1180F | Missense | 24/24 | - | 4 |
12-123641373-C-T | c.3533G>A | p.R1178H | Missense | 24/24 | - | 1 |
12-123641374-G-A | c.3532C>T | p.R1178C | Missense | 24/24 | - | 1 |
12-123641375-C-A | c.3531G>T | p.L1177F | Missense | 24/24 | - | 1 |
12-123641383-G-A | c.3523C>T | p.H1175Y | Missense | 24/24 | - | 1 |
12-123641384-G-A | c.3522C>T | p.F1174= | Synonymous | 24/24 | - | 3 |
12-123641386-A-C | c.3520T>G | p.F1174V | Missense | 24/24 | - | 1 |
12-123641386-A-T | c.3520T>A | p.F1174I | Missense | 24/24 | - | 1 |
12-123641388-T-G | c.3518A>C | p.K1173T | Missense | 24/24 | - | 3 |
12-123641397-G-A | c.3509C>T | p.T1170M | Missense | 24/24 | - | 1 |
12-123641400-A-G | c.3506T>C | p.M1169T | Missense | 24/24 | - | 1 |
12-123641402-GC-TT | c.3503_3504delinsAA | p.R1168Q | Missense | 24/24 | - | 1 |
12-123641404-G-A | c.3502C>T | p.R1168C | Missense | 24/24 | - | 2 |
12-123641404-G-T | c.3502C>A | p.R1168S | Missense | 24/24 | - | 1 |
12-123641413-C-A | c.3493G>T | p.G1165C | Missense | 24/24 | - | 1 |
12-123641419-C-T | c.3487G>A | p.E1163K | Missense | 24/24 | - | 2 |
12-123641422-G-A | c.3484C>T | p.R1162* | Nonsense | 24/24 | - | 1 |
12-123641430-C-A | c.3476G>T | p.R1159M | Missense | 24/24 | - | 1 |
12-123641430-C-T | c.3476G>A | p.R1159K | Missense | 24/24 | - | 1 |
12-123641434-C-G | c.3472G>C | p.E1158Q | Missense | 24/24 | - | 2 |
12-123641434-C-T | c.3472G>A | p.E1158K | Missense | 24/24 | - | 2 |
12-123641440-G-A | c.3466C>T | p.R1156C | Missense | 24/24 | - | 7 |
12-123641440-G-C | c.3466C>G | p.R1156G | Missense | 24/24 | - | 1 |
12-123641442-T-A | c.3464A>T | p.D1155V | Missense | 24/24 | - | 1 |
12-123641445-T-A | c.3461A>T | p.E1154V | Missense | 24/24 | - | 1 |
12-123641451-G-T | c.3455C>A | p.A1152D | Missense | 24/24 | - | 2 |
12-123642539-T-A | c.3451-1084A>T | - | IntronicSNV | - | 23/23 | 1 |
12-123642539-T-C | c.3451-1084A>G | - | IntronicSNV | - | 23/23 | 1 |
12-123643729-A-G | c.3450+1599T>C | - | IntronicSNV | - | 23/23 | 1 |
12-123643729-A-T | c.3450+1599T>A | - | IntronicSNV | - | 23/23 | 1 |
12-123644043-T-C | c.3450+1285A>G | - | IntronicSNV | - | 23/23 | 1 |
12-123645334-T-A | c.3444A>T | p.L1148F | Missense | 23/24 | - | 1 |
12-123645357-G-A | c.3421C>T | p.R1141* | Nonsense | 23/24 | - | 2 |
12-123645359-C-T | c.3419G>A | p.G1140E | Missense | 23/24 | - | 1 |
12-123645360-C-CT | c.3417dup | p.G1140Rfs*22 | Frameshift | 23/24 | - | 1 |
12-123645366-G-A | c.3412C>T | p.P1138S | Missense | 23/24 | - | 1 |
12-123645368-G-A | c.3410C>T | p.S1137F | Missense | 23/24 | - | 3 |
12-123645374-A-G | c.3404T>C | p.M1135T | Missense | 23/24 | - | 1 |
12-123645376-C-T | c.3402G>A | p.R1134= | Synonymous | 23/24 | - | 1 |
12-123645391-C-T | c.3387G>A | p.E1129= | Synonymous | 23/24 | - | 1 |
12-123645689-C-T | c.3375G>A | p.K1125= | Synonymous | 22/24 | - | 1 |
12-123645692-T-C | c.3372A>G | p.E1124= | Synonymous | 22/24 | - | 1 |
12-123645694-C-A | c.3370G>T | p.E1124* | Nonsense | 22/24 | - | 1 |
12-123645694-C-G | c.3370G>C | p.E1124Q | Missense | 22/24 | - | 2 |
12-123645694-C-T | c.3370G>A | p.E1124K | Missense | 22/24 | - | 1 |
12-123645700-T-A | c.3364A>T | p.T1122S | Missense | 22/24 | - | 1 |
12-123645707-ATC-TTA | c.3355_3357delinsTAA | p.D1119* | Nonsense | 22/24 | - | 1 |
12-123645713-A-T | c.3351T>A | p.F1117L | Missense | 22/24 | - | 4 |
12-123645713-A-C | c.3351T>G | p.F1117L | Missense | 22/24 | - | 2 |
12-123645715-A-G | c.3349T>C | p.F1117L | Missense | 22/24 | - | 2 |
12-123645721-C-G | c.3343G>C | p.E1115Q | Missense | 22/24 | - | 1 |
12-123645734-G-A | c.3330C>T | p.T1110= | Synonymous | 22/24 | - | 1 |
12-123645734-GG-CA | c.3329_3330delinsTG | p.T1110M | Missense | 22/24 | - | 1 |
12-123645734-G-T | c.3330C>A | p.T1110= | Synonymous | 22/24 | - | 1 |
12-123645738-C-T | c.3326G>A | p.R1109Q | Missense | 22/24 | - | 2 |
12-123645739-G-A | c.3325C>T | p.R1109W | Missense | 22/24 | - | 3 |
12-123645743-T-G | c.3321A>C | p.K1107N | Missense | 22/24 | - | 1 |
12-123645747-G-T | c.3317C>A | p.A1106E | Missense | 22/24 | - | 1 |
12-123645748-C-T | c.3316G>A | p.A1106T | Missense | 22/24 | - | 2 |
12-123645750-G-T | c.3314C>A | p.T1105K | Missense | 22/24 | - | 1 |
12-123645752-A-C | c.3312T>G | p.Y1104* | Nonsense | 22/24 | - | 1 |
12-123645752-A-T | c.3312T>A | p.Y1104* | Nonsense | 22/24 | - | 1 |
12-123645754-A-T | c.3310T>A | p.Y1104N | Missense | 22/24 | - | 1 |
12-123645757-C-G | c.3307G>C | p.E1103Q | Missense | 22/24 | - | 5 |
12-123645763-C-A | c.3301G>T | p.D1101Y | Missense | 22/24 | - | 1 |
12-123645767-C-A | c.3297G>T | p.G1099= | Synonymous | 22/24 | - | 1 |
12-123645767-C-G | c.3297G>C | p.G1099= | Synonymous | 22/24 | - | 1 |
12-123645767-C-T | c.3297G>A | p.G1099= | Synonymous | 22/24 | - | 1 |
12-123645772-G-A | c.3292C>T | p.Q1098* | Nonsense | 22/24 | - | 2 |
12-123645774-G-A | c.3290C>T | p.P1097L | Missense | 22/24 | - | 1 |
12-123645783-G-A | c.3281C>T | p.S1094L | Missense | 22/24 | - | 2 |
12-123645785-A-T | c.3279T>A | p.V1093= | Synonymous | 22/24 | - | 1 |
12-123645788-C-T | c.3276G>A | p.P1092= | Synonymous | 22/24 | - | 1 |
12-123645789-G-A | c.3275C>T | p.P1092L | Missense | 22/24 | - | 3 |
12-123645794-A-T | c.3270T>A | p.C1090* | Nonsense | 22/24 | - | 1 |
12-123645795-CA-GT | c.3268_3269delinsAC | p.C1090T | Missense | 22/24 | - | 1 |
12-123645802-C-T | c.3262G>A | p.E1088K | Missense | 22/24 | - | 1 |
12-123645803-G-A | c.3261C>T | p.Y1087= | Synonymous | 22/24 | - | 23 |
12-123645813-G-C | c.3251C>G | p.S1084* | Nonsense | 22/24 | - | 1 |
12-123645821-C-T | c.3243G>A | p.K1081= | Synonymous | 22/24 | - | 1 |
12-123645824-C-T | c.3240G>A | p.E1080= | Synonymous | 22/24 | - | 1 |
12-123645826-C-G | c.3238G>C | p.E1080Q | Missense | 22/24 | - | 1 |
12-123645826-C-T | c.3238G>A | p.E1080K | Missense | 22/24 | - | 3 |
12-123645827-C-T | c.3237G>A | p.W1079* | Nonsense | 22/24 | - | 1 |
12-123645831-G-T | c.3233C>A | p.A1078D | Missense | 22/24 | - | 3 |
12-123645847-C-G | c.3217G>C | p.V1073L | Missense | 22/24 | - | 1 |
12-123645863-T-A | c.3201A>T | p.P1067= | Synonymous | 22/24 | - | 1 |
12-123645869-C-A | c.3195G>T | p.P1065= | Synonymous | 22/24 | - | 1 |
12-123645869-C-G | c.3195G>C | p.P1065= | Synonymous | 22/24 | - | 1 |
12-123645869-C-T | c.3195G>A | p.P1065= | Synonymous | 22/24 | - | 2 |
12-123645873-T-C | c.3191A>G | p.E1064G | Missense | 22/24 | - | 1 |
12-123645878-G-T | c.3186C>A | p.C1062* | Nonsense | 22/24 | - | 1 |
12-123645904-C-A | c.3160G>T | p.D1054Y | Missense | 22/24 | - | 1 |
12-123645904-C-T | c.3160G>A | p.D1054N | Missense | 22/24 | - | 3 |
12-123645909-G-A | c.3155C>T | p.A1052V | Missense | 22/24 | - | 1 |
12-123645916-C-T | c.3148G>A | p.E1050K | Missense | 22/24 | - | 1 |
12-123645924-G-A | c.3140C>T | p.T1047I | Missense | 22/24 | - | 1 |
12-123645924-G-GT | c.3139dup | p.T1047Nfs*4 | Frameshift | - | - | 4 |
12-123645929-T-TTG | c.3134_3135insCA | p.E1045Dfs*27 | SpliceAcceptorInsertion | - | - | 1 |
12-123645988-T-C | c.3134-58A>G | - | IntronicSNV | - | 21/23 | 1 |
12-123646666-C-A | c.3129G>T | p.S1043= | Synonymous | 21/24 | - | 1 |
12-123646666-C-T | c.3129G>A | p.S1043= | Synonymous | 21/24 | - | 1 |
12-123646670-T-G | c.3125A>C | p.D1042A | Missense | 21/24 | - | 1 |
12-123646671-C-T | c.3124G>A | p.D1042N | Missense | 21/24 | - | 1 |
12-123646673-T-C | c.3122A>G | p.D1041G | Missense | 21/24 | - | 1 |
12-123646675-T-A | c.3120A>T | p.L1040= | Synonymous | 21/24 | - | 1 |
12-123646675-T-C | c.3120A>G | p.L1040= | Synonymous | 21/24 | - | 1 |
12-123646675-T-G | c.3120A>C | p.L1040= | Synonymous | 21/24 | - | 1 |
12-123646677-G-A | c.3118C>T | p.L1040= | Synonymous | 21/24 | - | 2 |
12-123646680-G-A | c.3115C>T | p.P1039S | Missense | 21/24 | - | 3 |
12-123646692-GT-G | c.3102del | p.Q1034Hfs*7 | Frameshift | 21/24 | - | 1 |
12-123646708-G-T | c.3087C>A | p.T1029= | Synonymous | 21/24 | - | 1 |
12-123646711-A-G | c.3084T>C | p.R1028= | Synonymous | 21/24 | - | 1 |
12-123646712-C-T | c.3083G>A | p.R1028H | Missense | 21/24 | - | 2 |
12-123646713-G-A | c.3082C>T | p.R1028C | Missense | 21/24 | - | 2 |
12-123646734-C-A | c.3061G>T | p.V1021F | Missense | 21/24 | - | 3 |
12-123646734-C-T | c.3061G>A | p.V1021I | Missense | 21/24 | - | 1 |
12-123646738-A-G | c.3057T>C | p.D1019= | Synonymous | 21/24 | - | 1 |
12-123646740-C-T | c.3055G>A | p.D1019N | Missense | 21/24 | - | 1 |
12-123646746-C-T | c.3049G>A | p.D1017N | Missense | 21/24 | - | 2 |
12-123646750-C-A | c.3045G>T | p.L1015F | Missense | 21/24 | - | 1 |
12-123646755-G-C | c.3040C>G | p.L1014V | Missense | 21/24 | - | 2 |
12-123647561-C-T | c.3029G>A | p.R1010Q | Missense | 20/24 | - | 2 |
12-123647562-G-A | c.3028C>T | p.R1010* | Nonsense | 20/24 | - | 2 |
12-123647562-G-C | c.3028C>G | p.R1010G | Missense | 20/24 | - | 1 |
12-123647562-G-T | c.3028C>A | p.R1010= | Synonymous | 20/24 | - | 1 |
12-123647567-G-A | c.3023C>T | p.P1008L | Missense | 20/24 | - | 2 |
12-123647578-A-C | c.3012T>G | p.N1004K | Missense | 20/24 | - | 2 |
12-123647583-T-G | c.3007A>C | p.K1003Q | Missense | 20/24 | - | 1 |
12-123647606-G-A | c.2984C>T | p.P995L | Missense | 20/24 | - | 1 |
12-123647607-G-A | c.2983C>T | p.P995S | Missense | 20/24 | - | 1 |
12-123647607-G-C | c.2983C>G | p.P995A | Missense | 20/24 | - | 1 |
12-123647607-G-T | c.2983C>A | p.P995T | Missense | 20/24 | - | 2 |
12-123647619-C-T | c.2971G>A | p.E991K | Missense | 20/24 | - | 1 |
12-123647627-G-A | c.2963C>T | p.S988F | Missense | 20/24 | - | 1 |
12-123647628-A-G | c.2962T>C | p.S988P | Missense | 20/24 | - | 1 |
12-123647629-TCG-CCA | c.2959_2961delinsTGG | p.R987W | Missense | 20/24 | - | 1 |
12-123647630-C-G | c.2960G>C | p.R987P | Missense | 20/24 | - | 1 |
12-123647630-C-T | c.2960G>A | p.R987Q | Missense | 20/24 | - | 1 |
12-123647631-G-A | c.2959C>T | p.R987* | Nonsense | 20/24 | - | 1 |
12-123647632-C-T | c.2958G>A | p.K986= | Synonymous | 20/24 | - | 1 |
12-123647636-G-A | c.2954C>T | p.P985L | Missense | 20/24 | - | 4 |
12-123647639-C-G | c.2951G>C | p.S984T | Missense | 20/24 | - | 3 |
12-123647640-T-C | c.2950A>G | p.S984G | Missense | 20/24 | - | 1 |
12-123647645-G-A | c.2945C>T | p.A982V | Missense | 20/24 | - | 3 |
12-123647656-T-C | c.2934A>G | p.P978= | Synonymous | 20/24 | - | 1 |
12-123647657-G-T | c.2933C>A | p.P978Q | Missense | 20/24 | - | 1 |
12-123647658-G-A | c.2932C>T | p.P978S | Missense | 20/24 | - | 1 |
12-123647664-G-T | c.2926C>A | p.L976I | Missense | 20/24 | - | 1 |
12-123647665-C-A | c.2925G>T | p.M975I | Missense | 20/24 | - | 1 |
12-123647665-C-G | c.2925G>C | p.M975I | Missense | 20/24 | - | 1 |
12-123647665-C-T | c.2925G>A | p.M975I | Missense | 20/24 | - | 1 |
12-123647674-T-A | c.2916A>T | p.R972S | Missense | 20/24 | - | 1 |
12-123647676-T-G | c.2914A>C | p.R972= | Synonymous | 20/24 | - | 1 |
12-123647725-G-C | c.2909-44C>G | - | IntronicSNV | - | 19/23 | 7 |
12-123647725-G-T | c.2909-44C>A | - | IntronicSNV | - | 19/23 | 7 |
12-123648032-C-G | c.2909-351G>C | - | IntronicSNV | - | 19/23 | 2 |
12-123648032-C-T | c.2909-351G>A | - | IntronicSNV | - | 19/23 | 2 |
12-123648139-G-GC | c.2908+357_2908+358insG | - | IntronicInsertion | - | 19/23 | 1 |
12-123648494-T-A | c.2908+3A>T | - | IntronicSNV | - | 19/23 | 1 |
12-123648503-T-C | c.2902A>G | p.T968A | Missense | 19/24 | - | 1 |
12-123648504-A-G | c.2901T>C | p.S967= | Synonymous | 19/24 | - | 1 |
12-123648514-C-T | c.2891G>A | p.R964H | Missense | 19/24 | - | 2 |
12-123648515-G-A | c.2890C>T | p.R964C | Missense | 19/24 | - | 3 |
12-123648523-G-A | c.2882C>T | p.P961L | Missense | 19/24 | - | 1 |
12-123648527-G-T | c.2878C>A | p.P960T | Missense | 19/24 | - | 1 |
12-123648544-T-C | c.2861A>G | p.Q954R | Missense | 19/24 | - | 2 |
12-123648546-T-A | c.2859A>T | p.S953= | Synonymous | 19/24 | - | 1 |
12-123648546-T-C | c.2859A>G | p.S953= | Synonymous | 19/24 | - | 1 |
12-123648546-T-G | c.2859A>C | p.S953= | Synonymous | 19/24 | - | 1 |
12-123648552-C-A | c.2853G>T | p.S951= | Synonymous | 19/24 | - | 1 |
12-123648552-C-G | c.2853G>C | p.S951= | Synonymous | 19/24 | - | 1 |
12-123648552-C-T | c.2853G>A | p.S951= | Synonymous | 19/24 | - | 2 |
12-123648553-G-A | c.2852C>T | p.S951L | Missense | 19/24 | - | 1 |
12-123648558-A-C | c.2847T>G | p.L949= | Synonymous | 19/24 | - | 1 |
12-123648558-A-G | c.2847T>C | p.L949= | Synonymous | 19/24 | - | 1 |
12-123648558-A-T | c.2847T>A | p.L949= | Synonymous | 19/24 | - | 1 |
12-123648564-C-G | c.2841G>C | p.K947N | Missense | 19/24 | - | 1 |
12-123648567-T-TA | c.2837_2838insT | p.Q946Hfs*5 | Frameshift | 19/24 | - | 1 |
12-123648569-G-A | c.2836C>T | p.Q946* | Nonsense | 19/24 | - | 2 |
12-123648582-A-T | c.2823T>A | p.C941* | Nonsense | 19/24 | - | 1 |
12-123648595-G-A | c.2810C>T | p.S937F | Missense | 19/24 | - | 1 |
12-123648598-AC-A | c.2807del | p.R936Lfs*41 | Frameshift | 19/24 | - | 1 |
12-123648599-G-A | c.2806C>T | p.R936C | Missense | 19/24 | - | 2 |
12-123648603-T-A | c.2802A>T | p.A934= | Synonymous | 19/24 | - | 2 |
12-123648611-C-G | c.2794G>C | p.V932L | Missense | 19/24 | - | 2 |
12-123648612-T-A | c.2793A>T | p.S931= | Synonymous | 19/24 | - | 1 |
12-123648612-T-C | c.2793A>G | p.S931= | Synonymous | 19/24 | - | 2 |
12-123648612-T-G | c.2793A>C | p.S931= | Synonymous | 19/24 | - | 1 |
12-123648616-G-A | c.2789C>T | p.T930I | Missense | 19/24 | - | 1 |
12-123648624-T-A | c.2781A>T | p.Q927H | Missense | 19/24 | - | 3 |
12-123648624-T-G | c.2781A>C | p.Q927H | Missense | 19/24 | - | 2 |
12-123648632-G-A | c.2773C>T | p.P925S | Missense | 19/24 | - | 1 |
12-123648881-C-T | c.2768-244G>A | - | IntronicSNV | - | 18/23 | 3 |
12-123649486-A-G | c.2767+363T>C | - | IntronicSNV | - | 18/23 | 2 |
12-123649486-A-T | c.2767+363T>A | - | IntronicSNV | - | 18/23 | 2 |
12-123649857-G-T | c.2759C>A | p.T920N | Missense | 18/24 | - | 1 |
12-123649902-C-T | c.2714G>A | p.G905E | Missense | 18/24 | - | 1 |
12-123649906-C-G | c.2710G>C | p.E904Q | Missense | 18/24 | - | 1 |
12-123649906-C-T | c.2710G>A | p.E904K | Missense | 18/24 | - | 2 |
12-123649912-G-A | c.2704C>T | p.L902F | Missense | 18/24 | - | 1 |
12-123649912-G-C | c.2704C>G | p.L902V | Missense | 18/24 | - | 1 |
12-123649915-C-A | c.2701G>T | p.E901* | Nonsense | 18/24 | - | 1 |
12-123649917-T-C | c.2699A>G | p.K900R | Missense | 18/24 | - | 1 |
12-123649918-T-G | c.2698A>C | p.K900Q | Missense | 18/24 | - | 1 |
12-123649932-A-AT | c.2683dup | p.I895Nfs*9 | Frameshift | 18/24 | - | 1 |
12-123649935-G-A | c.2681C>T | p.P894L | Missense | 18/24 | - | 1 |
12-123649937-C-A | c.2679G>T | p.T893= | Synonymous | 18/24 | - | 1 |
12-123649937-C-G | c.2679G>C | p.T893= | Synonymous | 18/24 | - | 1 |
12-123649937-C-T | c.2679G>A | p.T893= | Synonymous | 18/24 | - | 1 |
12-123649942-C-G | c.2674G>C | p.D892H | Missense | 18/24 | - | 1 |
12-123649944-G-A | c.2672C>T | p.S891L | Missense | 18/24 | - | 2 |
12-123649944-G-C | c.2672C>G | p.S891* | Nonsense | 18/24 | - | 1 |
12-123649944-G-T | c.2672C>A | p.S891* | Nonsense | 18/24 | - | 1 |
12-123649951-C-T | c.2665G>A | p.E889K | Missense | 18/24 | - | 1 |
12-123649952-TCT-ACA | c.2662_2664delinsTGT | p.R888C | Missense | 18/24 | - | 1 |
12-123649968-A-T | c.2648T>A | p.L883* | Nonsense | 18/24 | - | 1 |
12-123649973-G-A | c.2643C>T | p.S881= | Synonymous | 18/24 | - | 1 |
12-123649983-G-A | c.2633C>T | p.S878L | Missense | 18/24 | - | 1 |
12-123649990-C-T | c.2626G>A | p.G876R | Missense | 18/24 | - | 1 |
12-123649995-G-A | c.2621C>T | p.S874L | Missense | 18/24 | - | 1 |
12-123650335-C-T | c.2592-311G>A | - | IntronicSNV | - | 17/23 | 4 |
12-123651018-T-A | c.2591+184A>T | - | IntronicSNV | - | 17/23 | 2 |
12-123651018-T-C | c.2591+184A>G | - | IntronicSNV | - | 17/23 | 2 |
12-123651162-A-G | c.2591+40T>C | - | IntronicSNV | - | 17/23 | 10 |
12-123651210-A-T | c.2583T>A | p.C861* | Nonsense | 17/24 | - | 1 |
12-123651218-C-T | c.2575G>A | p.E859K | Missense | 17/24 | - | 1 |
12-123651237-G-A | c.2556C>T | p.N852= | Synonymous | 17/24 | - | 4 |
12-123651248-G-A | c.2545C>T | p.Q849* | Nonsense | 17/24 | - | 1 |
12-123651257-G-C | c.2536C>G | p.L846V | Missense | 17/24 | - | 1 |
12-123651259-G-A | c.2534C>T | p.P845L | Missense | 17/24 | - | 2 |
12-123651268-G-A | c.2525C>T | p.T842I | Missense | 17/24 | - | 1 |
12-123651297-C-A | c.2496G>T | p.L832= | Synonymous | 17/24 | - | 1 |
12-123651297-C-G | c.2496G>C | p.L832= | Synonymous | 17/24 | - | 1 |
12-123651297-C-T | c.2496G>A | p.L832= | Synonymous | 17/24 | - | 1 |
12-123651299-G-A | c.2494C>T | p.L832= | Synonymous | 17/24 | - | 1 |
12-123651307-C-T | c.2486G>A | p.R829Q | Missense | 17/24 | - | 1 |
12-123651313-GC-G | c.2480del | p.S827Tfs*6 | Frameshift | 17/24 | - | 1 |
12-123651317-C-T | c.2476G>A | p.V826I | Missense | 17/24 | - | 1 |
12-123651318-G-A | c.2475C>T | p.D825= | Synonymous | 17/24 | - | 2 |
12-123651318-G-C | c.2475C>G | p.D825E | Missense | 17/24 | - | 2 |
12-123651318-G-T | c.2475C>A | p.D825E | Missense | 17/24 | - | 2 |
12-123651326-T-A | c.2467A>T | p.T823S | Missense | 17/24 | - | 1 |
12-123651335-T-G | c.2458A>C | p.T820P | Missense | 17/24 | - | 1 |
12-123651966-G-C | c.2457-630C>G | - | IntronicSNV | - | 16/23 | 1 |
12-123655049-A-G | c.2457-3713T>C | - | IntronicSNV | - | 16/23 | 2 |
12-123656533-C-T | c.2456+4702G>A | - | IntronicSNV | - | 16/23 | 1 |
12-123656725-G-T | c.2456+4510C>A | - | IntronicSNV | - | 16/23 | 13 |
12-123658258-A-G | c.2456+2977T>C | - | IntronicSNV | - | 16/23 | 2 |
12-123659542-C-T | c.2456+1693G>A | - | IntronicSNV | - | 16/23 | 1 |
12-123660510-A-G | c.2456+725T>C | - | IntronicSNV | - | 16/23 | 1 |
12-123661242-G-A | c.2449C>T | p.R817C | Missense | 16/24 | - | 1 |
12-123661250-C-T | c.2441G>A | p.R814K | Missense | 16/24 | - | 1 |
12-123661252-CAC-GAT | c.2437_2439delinsATC | p.V813I | Missense | 16/24 | - | 1 |
12-123661252-C-T | c.2439G>A | p.V813= | Synonymous | 16/24 | - | 1 |
12-123661254-C-T | c.2437G>A | p.V813M | Missense | 16/24 | - | 1 |
12-123661255-G-A | c.2436C>T | p.H812= | Synonymous | 16/24 | - | 1 |
12-123661257-G-T | c.2434C>A | p.H812N | Missense | 16/24 | - | 1 |
12-123661275-G-A | c.2416C>T | p.R806C | Missense | 16/24 | - | 1 |
12-123661294-A-G | c.2397T>C | p.H799= | Synonymous | 16/24 | - | 1 |
12-123661294-A-T | c.2397T>A | p.H799Q | Missense | 16/24 | - | 1 |
12-123661295-T-C | c.2396A>G | p.H799R | Missense | 16/24 | - | 7 |
12-123661301-A-G | c.2390T>C | p.V797A | Missense | 16/24 | - | 1 |
12-123661305-G-A | c.2386C>T | p.Q796* | Nonsense | 16/24 | - | 1 |
12-123661307-T-C | c.2384A>G | p.K795R | Missense | 16/24 | - | 1 |
12-123661309-G-A | c.2382C>T | p.V794= | Synonymous | 16/24 | - | 1 |
12-123661309-G-C | c.2382C>G | p.V794= | Synonymous | 16/24 | - | 1 |
12-123661309-G-T | c.2382C>A | p.V794= | Synonymous | 16/24 | - | 1 |
12-123661315-A-C | c.2376T>G | p.A792= | Synonymous | 16/24 | - | 3 |
12-123661315-A-G | c.2376T>C | p.A792= | Synonymous | 16/24 | - | 3 |
12-123661315-A-T | c.2376T>A | p.A792= | Synonymous | 16/24 | - | 3 |
12-123661326-T-A | c.2365A>T | p.K789* | Nonsense | 16/24 | - | 1 |
12-123661328-G-C | c.2363C>G | p.S788* | Nonsense | 16/24 | - | 1 |
12-123661328-G-T | c.2363C>A | p.S788* | Nonsense | 16/24 | - | 1 |
12-123664205-C-A | c.2354+268G>T | - | IntronicSNV | - | 15/23 | 2 |
12-123664205-C-T | c.2354+268G>A | - | IntronicSNV | - | 15/23 | 2 |
12-123664438-A-C | c.2354+35T>G | - | IntronicSNV | - | 15/23 | 2 |
12-123664490-C-A | c.2337G>T | p.Q779H | Missense | 15/24 | - | 1 |
12-123664494-G-A | c.2333C>T | p.T778I | Missense | 15/24 | - | 2 |
12-123664514-G-A | c.2313C>T | p.N771= | Synonymous | 15/24 | - | 17 |
12-123664523-TG-GT | c.2303_2304delinsAC | p.T768N | Missense | 15/24 | - | 2 |
12-123664524-G-T | c.2303C>A | p.T768K | Missense | 15/24 | - | 1 |
12-123664530-AA-GG | c.2296_2297delinsCC | p.L766P | Missense | 15/24 | - | 1 |
12-123665113-G-C | c.2290-576C>G | - | IntronicSNV | - | 14/23 | 16 |
12-123665625-G-A | c.2289+85C>T | - | IntronicSNV | - | 14/23 | 1 |
12-123665695-A-G | c.2289+15T>C | - | IntronicSNV | - | 14/23 | 9 |
12-123665710-C-A | c.2289G>T | p.K763N | Missense | 14/24 | - | 2 |
12-123665710-C-G | c.2289G>C | p.K763N | Missense | 14/24 | - | 2 |
12-123665714-A-C | c.2285T>G | p.V762G | Missense | 14/24 | - | 1 |
12-123665719-C-A | c.2280G>T | p.R760S | Missense | 14/24 | - | 1 |
12-123665727-C-G | c.2272G>C | p.E758Q | Missense | 14/24 | - | 1 |
12-123665732-C-T | c.2267G>A | p.G756E | Missense | 14/24 | - | 1 |
12-123665733-C-A | c.2266G>T | p.G756* | Nonsense | 14/24 | - | 1 |
12-123665737-G-A | c.2262C>T | p.S754= | Synonymous | 14/24 | - | 1 |
12-123665737-G-C | c.2262C>G | p.S754= | Synonymous | 14/24 | - | 1 |
12-123665737-G-T | c.2262C>A | p.S754= | Synonymous | 14/24 | - | 1 |
12-123665755-A-C | c.2244T>G | p.L748= | Synonymous | 14/24 | - | 1 |
12-123665755-A-G | c.2244T>C | p.L748= | Synonymous | 14/24 | - | 1 |
12-123665755-A-T | c.2244T>A | p.L748= | Synonymous | 14/24 | - | 1 |
12-123667354-G-T | c.2242-1597C>A | - | IntronicSNV | - | 13/23 | 1 |
12-123667582-A-G | c.2242-1825T>C | - | IntronicSNV | - | 13/23 | 1 |
12-123669235-C-G | c.2242-3478G>C | - | IntronicSNV | - | 13/23 | 1 |
12-123669235-C-T | c.2242-3478G>A | - | IntronicSNV | - | 13/23 | 1 |
12-123670473-T-C | c.2242-4716A>G | - | IntronicSNV | - | 13/23 | 1 |
12-123671310-T-A | c.2242-5553A>T | - | IntronicSNV | - | 13/23 | 1 |
12-123671310-T-C | c.2242-5553A>G | - | IntronicSNV | - | 13/23 | 1 |
12-123676763-G-A | c.2241+2170C>T | - | IntronicSNV | - | 13/23 | 1 |
12-123678371-T-G | c.2241+562A>C | - | IntronicSNV | - | 13/23 | 1 |
12-123678372-T-G | c.2241+561A>C | - | IntronicSNV | - | 13/23 | 1 |
12-123678965-G-A | c.2209C>T | p.Q737* | Nonsense | 13/24 | - | 1 |
12-123678967-G-A | c.2207C>T | p.A736V | Missense | 13/24 | - | 1 |
12-123678974-T-C | c.2200A>G | p.K734E | Missense | 13/24 | - | 1 |
12-123678982-G-C | c.2192C>G | p.S731* | Nonsense | 13/24 | - | 1 |
12-123678982-G-T | c.2192C>A | p.S731* | Nonsense | 13/24 | - | 1 |
12-123678984-G-A | c.2190C>T | p.L730= | Synonymous | 13/24 | - | 1 |
12-123678994-G-C | c.2180C>G | p.A727G | Missense | 13/24 | - | 1 |
12-123679007-C-T | c.2167G>A | p.A723T | Missense | 13/24 | - | 1 |
12-123679017-A-G | c.2157T>C | p.D719= | Synonymous | 13/24 | - | 1 |
12-123679035-TAG-AAA | c.2137_2139delinsTTT | p.L713F | Missense | 13/24 | - | 1 |
12-123679036-A-G | c.2138T>C | p.L713P | Missense | 13/24 | - | 1 |
12-123679039-C-T | c.2135G>A | p.R712Q | Missense | 13/24 | - | 1 |
12-123679040-G-A | c.2134C>T | p.R712* | Nonsense | 13/24 | - | 1 |
12-123679044-G-C | c.2130C>G | p.I710M | Missense | 13/24 | - | 1 |
12-123679054-T-C | c.2120A>G | p.D707G | Missense | 13/24 | - | 1 |
12-123679055-C-T | c.2119G>A | p.D707N | Missense | 13/24 | - | 1 |
12-123679068-G-C | c.2106C>G | p.S702R | Missense | 13/24 | - | 1 |
12-123679068-G-T | c.2106C>A | p.S702R | Missense | 13/24 | - | 1 |
12-123679070-T-G | c.2104A>C | p.S702R | Missense | 13/24 | - | 1 |
12-123679073-T-A | c.2101A>T | p.T701S | Missense | 13/24 | - | 3 |
12-123679090-C-T | c.2084G>A | p.R695Q | Missense | 13/24 | - | 1 |
12-123679091-G-A | c.2083C>T | p.R695* | Nonsense | 13/24 | - | 1 |
12-123679095-C-T | c.2079G>A | p.Q693= | Synonymous | 13/24 | - | 1 |
12-123679097-G-T | c.2077C>A | p.Q693K | Missense | 13/24 | - | 1 |
12-123679126-C-T | c.2048G>A | p.S683N | Missense | 13/24 | - | 2 |
12-123679132-C-T | c.2042G>A | p.R681H | Missense | 13/24 | - | 1 |
12-123679134-T-A | c.2040A>T | p.E680D | Missense | 13/24 | - | 2 |
12-123679134-T-G | c.2040A>C | p.E680D | Missense | 13/24 | - | 1 |
12-123679136-C-T | c.2038G>A | p.E680K | Missense | 13/24 | - | 2 |
12-123679138-C-T | c.2036G>A | p.R679K | Missense | 13/24 | - | 1 |
12-123679187-G-T | c.2026-39C>A | - | IntronicSNV | - | 12/23 | 1 |
12-123682081-G-A | c.2025+713C>T | - | IntronicSNV | - | 12/23 | 2 |
12-123682081-G-T | c.2025+713C>A | - | IntronicSNV | - | 12/23 | 2 |
12-123682316-G-A | c.2025+478C>T | - | IntronicSNV | - | 12/23 | 1 |
12-123682594-G-A | c.2025+200C>T | - | IntronicSNV | - | 12/23 | 2 |
12-123682630-CA-C | c.2025+163del | - | IntronicDeletion | - | 12/23 | 1 |
12-123682799-C-T | c.2020G>A | p.E674K | Missense | 12/24 | - | 1 |
12-123682803-T-A | c.2016A>T | p.E672D | Missense | 12/24 | - | 1 |
12-123682805-C-A | c.2014G>T | p.E672* | Nonsense | 12/24 | - | 1 |
12-123682834-C-A | c.1985G>T | p.R662I | Missense | 12/24 | - | 1 |
12-123682834-C-G | c.1985G>C | p.R662T | Missense | 12/24 | - | 1 |
12-123682834-C-T | c.1985G>A | p.R662K | Missense | 12/24 | - | 1 |
12-123682836-C-T | c.1983G>A | p.V661= | Synonymous | 12/24 | - | 1 |
12-123682839-G-A | c.1980C>T | p.R660= | Synonymous | 12/24 | - | 1 |
12-123682840-C-T | c.1979G>A | p.R660H | Missense | 12/24 | - | 4 |
12-123682855-T-G | c.1964A>C | p.H655P | Missense | 12/24 | - | 1 |
12-123682856-G-A | c.1963C>T | p.H655Y | Missense | 12/24 | - | 1 |
12-123682864-C-A | c.1955G>T | p.S652I | Missense | 12/24 | - | 2 |
12-123682863-ACTAT-A | c.1952_1955del | p.D651Vfs*10 | Frameshift | 12/24 | - | 3 |
12-123682868-C-G | c.1951G>C | p.D651H | Missense | 12/24 | - | 1 |
12-123682877-C-T | c.1942G>A | p.G648S | Missense | 12/24 | - | 1 |
12-123682878-A-G | c.1941T>C | p.C647= | Synonymous | 12/24 | - | 1 |
12-123682879-C-A | c.1940G>T | p.C647F | Missense | 12/24 | - | 1 |
12-123683155-A-C | c.1938-274T>G | - | IntronicSNV | - | 11/23 | 2 |
12-123683155-A-G | c.1938-274T>C | - | IntronicSNV | - | 11/23 | 2 |
12-123686711-C-A | c.1937G>T | p.R646I | Missense | 11/24 | - | 1 |
12-123686713-G-A | c.1935C>T | p.D645= | Synonymous | 11/24 | - | 1 |
12-123686721-G-T | c.1927C>A | p.L643I | Missense | 11/24 | - | 2 |
12-123686727-G-C | c.1921C>G | p.Q641E | Missense | 11/24 | - | 1 |
12-123686728-A-C | c.1920T>G | p.N640K | Missense | 11/24 | - | 1 |
12-123686736-T-C | c.1912A>G | p.I638V | Missense | 11/24 | - | 1 |
12-123686748-C-A | c.1900G>T | p.E634* | Nonsense | 11/24 | - | 1 |
12-123686756-G-A | c.1892C>T | p.S631F | Missense | 11/24 | - | 1 |
12-123686768-G-C | c.1880C>G | p.A627G | Missense | 11/24 | - | 1 |
12-123686779-C-A | c.1869G>T | p.Q623H | Missense | 11/24 | - | 1 |
12-123686789-CT-GC | c.1858_1859delinsGC | p.S620A | Missense | 11/24 | - | 2 |
12-123686791-A-G | c.1857T>C | p.N619= | Synonymous | 11/24 | - | 4 |
12-123686798-T-A | c.1850A>T | p.E617V | Missense | 11/24 | - | 1 |
12-123686817-G-A | c.1831C>T | p.R611* | Nonsense | 11/24 | - | 1 |
12-123686820-G-T | c.1828C>A | p.L610I | Missense | 11/24 | - | 4 |
12-123686823-C-G | c.1825G>C | p.D609H | Missense | 11/24 | - | 1 |
12-123686834-C-T | c.1814G>A | p.R605Q | Missense | 11/24 | - | 1 |
12-123686835-G-A | c.1813C>T | p.R605* | Nonsense | 11/24 | - | 1 |
12-123686845-T-A | c.1803A>T | p.E601D | Missense | 11/24 | - | 1 |
12-123686845-T-G | c.1803A>C | p.E601D | Missense | 11/24 | - | 1 |
12-123686857-C-T | c.1791G>A | p.Q597= | Synonymous | 11/24 | - | 1 |
12-123686861-C-T | c.1787G>A | p.R596K | Missense | 11/24 | - | 1 |
12-123687172-T-A | c.1780A>T | p.K594* | Nonsense | 10/24 | - | 1 |
12-123687181-T-A | c.1771A>T | p.I591L | Missense | 10/24 | - | 1 |
12-123687181-T-G | c.1771A>C | p.I591L | Missense | 10/24 | - | 1 |
12-123687187-G-T | c.1765C>A | p.P589T | Missense | 10/24 | - | 1 |
12-123687197-G-A | c.1755C>T | p.S585= | Synonymous | 10/24 | - | 1 |
12-123687197-G-C | c.1755C>G | p.S585= | Synonymous | 10/24 | - | 1 |
12-123687197-G-T | c.1755C>A | p.S585= | Synonymous | 10/24 | - | 1 |
12-123687198-G-A | c.1754C>T | p.S585F | Missense | 10/24 | - | 2 |
12-123687213-C-A | c.1739G>T | p.C580F | Missense | 10/24 | - | 1 |
12-123687217-C-A | c.1735G>T | p.E579* | Nonsense | 10/24 | - | 1 |
12-123687217-C-T | c.1735G>A | p.E579K | Missense | 10/24 | - | 1 |
12-123687221-G-A | c.1731C>T | p.V577= | Synonymous | 10/24 | - | 2 |
12-123687221-G-C | c.1731C>G | p.V577= | Synonymous | 10/24 | - | 1 |
12-123687221-G-T | c.1731C>A | p.V577= | Synonymous | 10/24 | - | 1 |
12-123687234-G-C | c.1718C>G | p.T573R | Missense | 10/24 | - | 1 |
12-123687260-TGA-GTT | c.1690_1692delinsAAC | p.S564N | Missense | 10/24 | - | 1 |
12-123687262-AG-A | c.1689del | p.S564Qfs*20 | Frameshift | 10/24 | - | 1 |
12-123687265-C-T | c.1687G>A | p.A563T | Missense | 10/24 | - | 1 |
12-123687267-G-A | c.1685C>T | p.S562L | Missense | 10/24 | - | 5 |
12-123687280-C-A | c.1672G>T | p.V558F | Missense | 10/24 | - | 1 |
12-123687289-C-G | c.1663G>C | p.E555Q | Missense | 10/24 | - | 2 |
12-123687292-C-T | c.1660G>A | p.E554K | Missense | 10/24 | - | 2 |
12-123687300-G-A | c.1652C>T | p.T551I | Missense | 10/24 | - | 3 |
12-123687303-T-C | c.1649A>G | p.N550S | Missense | 10/24 | - | 1 |
12-123687321-C-T | c.1631G>A | p.S544N | Missense | 10/24 | - | 1 |
12-123687321-CT-AG | c.1630_1631inv | p.S544L | Missense | 10/24 | - | 1 |
12-123687331-T-C | c.1621A>G | p.T541A | Missense | 10/24 | - | 2 |
12-123687336-A-G | c.1616T>C | p.V539A | Missense | 10/24 | - | 1 |
12-123687337-C-T | c.1615G>A | p.V539I | Missense | 10/24 | - | 1 |
12-123687341-C-T | c.1611G>A | p.P537= | Synonymous | 10/24 | - | 1 |
12-123687342-G-A | c.1610C>T | p.P537L | Missense | 10/24 | - | 3 |
12-123687348-G-A | c.1604C>T | p.T535M | Missense | 10/24 | - | 2 |
12-123687352-A-G | c.1600T>C | p.S534P | Missense | 10/24 | - | 1 |
12-123687351-G-GA | c.1600dup | p.S534Ffs*11 | Frameshift | 10/24 | - | 1 |
12-123687359-C-T | c.1593G>A | p.R531= | Synonymous | 10/24 | - | 2 |
12-123687361-T-G | c.1591A>C | p.R531= | Synonymous | 10/24 | - | 2 |
12-123687366-T-C | c.1586A>G | p.E529G | Missense | 10/24 | - | 1 |
12-123687373-G-A | c.1579C>T | p.Q527* | Nonsense | 10/24 | - | 1 |
12-123687381-T-C | c.1571A>G | p.Q524R | Missense | 10/24 | - | 1 |
12-123687382-G-A | c.1570C>T | p.Q524* | Nonsense | 10/24 | - | 2 |
12-123687385-T-G | c.1567A>C | p.N523H | Missense | 10/24 | - | 1 |
12-123687389-C-T | c.1563G>A | p.W521* | Nonsense | 10/24 | - | 2 |
12-123687401-C-A | c.1551G>T | p.P517= | Synonymous | 10/24 | - | 1 |
12-123687401-C-G | c.1551G>C | p.P517= | Synonymous | 10/24 | - | 1 |
12-123687401-C-T | c.1551G>A | p.P517= | Synonymous | 10/24 | - | 2 |
12-123687414-G-A | c.1538C>T | p.T513I | Missense | 10/24 | - | 1 |
12-123687421-A-G | c.1531T>C | p.S511P | Missense | 10/24 | - | 1 |
12-123687432-G-A | c.1520C>T | p.P507L | Missense | 10/24 | - | 2 |
12-123687433-G-T | c.1519C>A | p.P507T | Missense | 10/24 | - | 1 |
12-123687443-T-C | c.1509A>G | p.L503= | Synonymous | 10/24 | - | 1 |
12-123687445-A-G | c.1507T>C | p.L503= | Synonymous | 10/24 | - | 1 |
12-123687455-G-A | c.1497C>T | p.V499= | Synonymous | 10/24 | - | 1 |
12-123687455-G-C | c.1497C>G | p.V499= | Synonymous | 10/24 | - | 1 |
12-123687455-G-T | c.1497C>A | p.V499= | Synonymous | 10/24 | - | 1 |
12-123687456-A-G | c.1496T>C | p.V499A | Missense | 10/24 | - | 1 |
12-123687467-T-G | c.1485A>C | p.Q495H | Missense | 10/24 | - | 1 |
12-123687471-G-C | c.1481C>G | p.S494* | Nonsense | 10/24 | - | 1 |
12-123687477-G-A | c.1475C>T | p.S492L | Missense | 10/24 | - | 1 |
12-123687488-A-C | c.1464T>G | p.S488= | Synonymous | 10/24 | - | 1 |
12-123687488-A-G | c.1464T>C | p.S488= | Synonymous | 10/24 | - | 1 |
12-123687488-A-T | c.1464T>A | p.S488= | Synonymous | 10/24 | - | 1 |
12-123687489-G-A | c.1463C>T | p.S488F | Missense | 10/24 | - | 2 |
12-123687489-GA-CC | c.1462_1463delinsGG | p.S488G | Missense | 10/24 | - | 1 |
12-123687490-A-T | c.1462T>A | p.S488T | Missense | 10/24 | - | 1 |
12-123687492-G-A | c.1460C>T | p.P487L | Missense | 10/24 | - | 1 |
12-123687509-C-T | c.1443G>A | p.E481= | Synonymous | 10/24 | - | 1 |
12-123687511-C-G | c.1441G>C | p.E481Q | Missense | 10/24 | - | 2 |
12-123687514-G-A | c.1438C>T | p.L480= | Synonymous | 10/24 | - | 1 |
12-123687517-C-T | c.1435G>A | p.V479I | Missense | 10/24 | - | 1 |
12-123687518-A-C | c.1434T>G | p.S478= | Synonymous | 10/24 | - | 1 |
12-123687518-A-G | c.1434T>C | p.S478= | Synonymous | 10/24 | - | 1 |
12-123687518-A-T | c.1434T>A | p.S478= | Synonymous | 10/24 | - | 1 |
12-123687519-GA-TT | c.1432_1433delinsAA | p.S478N | Missense | 10/24 | - | 1 |
12-123687521-G-A | c.1431C>T | p.D477= | Synonymous | 10/24 | - | 2 |
12-123687525-G-T | c.1427C>A | p.P476Q | Missense | 10/24 | - | 1 |
12-123687540-C-A | c.1412G>T | p.R471I | Missense | 10/24 | - | 1 |
12-123687542-G-A | c.1410C>T | p.D470= | Synonymous | 10/24 | - | 1 |
12-123687547-C-A | c.1405G>T | p.D469Y | Missense | 10/24 | - | 2 |
12-123687552-G-A | c.1400C>T | p.A467V | Missense | 10/24 | - | 1 |
12-123687558-G-A | c.1394C>T | p.P465L | Missense | 10/24 | - | 3 |
12-123687559-G-A | c.1393C>T | p.P465S | Missense | 10/24 | - | 1 |
12-123687563-GC-CT | c.1388_1389delinsAG | p.G463E | Missense | 10/24 | - | 2 |
12-123687565-C-G | c.1387G>C | p.G463R | Missense | 10/24 | - | 1 |
12-123687567-T-C | c.1385A>G | p.H462R | Missense | 10/24 | - | 1 |
12-123687568-G-T | c.1384C>A | p.H462N | Missense | 10/24 | - | 1 |
12-123687580-C-G | c.1372G>C | p.G458R | Missense | 10/24 | - | 1 |
12-123687581-T-A | c.1371A>T | p.S457= | Synonymous | 10/24 | - | 1 |
12-123687581-T-C | c.1371A>G | p.S457= | Synonymous | 10/24 | - | 1 |
12-123687581-T-G | c.1371A>C | p.S457= | Synonymous | 10/24 | - | 1 |
12-123687582-G-A | c.1370C>T | p.S457L | Missense | 10/24 | - | 1 |
12-123687593-C-A | c.1359G>T | p.K453N | Missense | 10/24 | - | 1 |
12-123687593-C-G | c.1359G>C | p.K453N | Missense | 10/24 | - | 1 |
12-123687611-C-T | c.1341G>A | p.T447= | Synonymous | 10/24 | - | 2 |
12-123687613-T-C | c.1339A>G | p.T447A | Missense | 10/24 | - | 4 |
12-123687622-G-A | c.1330C>T | p.L444= | Synonymous | 10/24 | - | 1 |
12-123687626-C-T | c.1326G>A | p.L442= | Synonymous | 10/24 | - | 1 |
12-123687672-G-A | c.1321-41C>T | - | IntronicSNV | - | 9/23 | 1 |
12-123687746-G-C | c.1320+51C>G | - | IntronicSNV | - | 9/23 | 1 |
12-123687774-C-T | c.1320+23G>A | - | IntronicSNV | - | 9/23 | 4 |
12-123687819-G-A | c.1298C>T | p.S433F | Missense | 9/24 | - | 2 |
12-123687822-G-A | c.1295C>T | p.A432V | Missense | 9/24 | - | 3 |
12-123687825-G-C | c.1292C>G | p.S431C | Missense | 9/24 | - | 2 |
12-123687831-A-C | c.1286T>G | p.L429R | Missense | 9/24 | - | 1 |
12-123687836-CCT-ATG | c.1279_1281delinsCAT | p.R427H | Missense | 9/24 | - | 1 |
12-123687837-C-T | c.1280G>A | p.R427K | Missense | 9/24 | - | 1 |
12-123687838-T-C | c.1279A>G | p.R427G | Missense | 9/24 | - | 1 |
12-123687841-C-T | c.1276G>A | p.E426K | Missense | 9/24 | - | 1 |
12-123687854-G-A | c.1263C>T | p.N421= | Synonymous | 9/24 | - | 1 |
12-123687861-C-T | c.1256G>A | p.R419K | Missense | 9/24 | - | 1 |
12-123687868-T-TA | c.1248_1249insT | p.K417* | Nonsense | 9/24 | - | 1 |
12-123687882-T-A | c.1235A>T | p.D412V | Missense | 9/24 | - | 3 |
12-123687883-C-T | c.1234G>A | p.D412N | Missense | 9/24 | - | 2 |
12-123687893-C-A | c.1224G>T | p.P408= | Synonymous | 9/24 | - | 1 |
12-123687893-C-G | c.1224G>C | p.P408= | Synonymous | 9/24 | - | 1 |
12-123687893-C-T | c.1224G>A | p.P408= | Synonymous | 9/24 | - | 1 |
12-123687894-G-A | c.1223C>T | p.P408L | Missense | 9/24 | - | 1 |
12-123687895-G-A | c.1222C>T | p.P408S | Missense | 9/24 | - | 1 |
12-123687895-G-T | c.1222C>A | p.P408T | Missense | 9/24 | - | 1 |
12-123687902-C-A | c.1215G>T | p.M405I | Missense | 9/24 | - | 2 |
12-123687902-C-G | c.1215G>C | p.M405I | Missense | 9/24 | - | 1 |
12-123687902-C-T | c.1215G>A | p.M405I | Missense | 9/24 | - | 1 |
12-123687907-C-A | c.1210G>T | p.E404* | Nonsense | 9/24 | - | 3 |
12-123687910-T-C | c.1207A>G | p.N403D | Missense | 9/24 | - | 1 |
12-123687920-A-C | c.1197T>G | p.S399= | Synonymous | 9/24 | - | 1 |
12-123687920-A-G | c.1197T>C | p.S399= | Synonymous | 9/24 | - | 1 |
12-123687920-A-T | c.1197T>A | p.S399= | Synonymous | 9/24 | - | 1 |
12-123689386-T-C | c.1195-1464A>G | - | IntronicSNV | - | 8/23 | 1 |
12-123689521-C-T | c.1195-1599G>A | - | IntronicSNV | - | 8/23 | 2 |
12-123689897-G-A | c.1195-1975C>T | - | IntronicSNV | - | 8/23 | 1 |
12-123689897-G-C | c.1195-1975C>G | - | IntronicSNV | - | 8/23 | 1 |
12-123691742-T-C | c.1194+2861A>G | - | IntronicSNV | - | 8/23 | 1 |
12-123691742-T-G | c.1194+2861A>C | - | IntronicSNV | - | 8/23 | 1 |
12-123692417-A-G | c.1194+2186T>C | - | IntronicSNV | - | 8/23 | 1 |
12-123692417-A-T | c.1194+2186T>A | - | IntronicSNV | - | 8/23 | 1 |
12-123692965-A-C | c.1194+1638T>G | - | IntronicSNV | - | 8/23 | 2 |
12-123692965-A-T | c.1194+1638T>A | - | IntronicSNV | - | 8/23 | 2 |
12-123694206-T-A | c.1194+397A>T | - | IntronicSNV | - | 8/23 | 1 |
12-123694206-T-C | c.1194+397A>G | - | IntronicSNV | - | 8/23 | 1 |
12-123694250-C-G | c.1194+353G>C | - | IntronicSNV | - | 8/23 | 1 |
12-123694250-C-T | c.1194+353G>A | - | IntronicSNV | - | 8/23 | 1 |
12-123694530-A-T | c.1194+73T>A | - | IntronicSNV | - | 8/23 | 1 |
12-123694547-C-G | c.1194+56G>C | - | IntronicSNV | - | 8/23 | 1 |
12-123694547-C-T | c.1194+56G>A | - | IntronicSNV | - | 8/23 | 1 |
12-123694600-T-G | c.1194+3A>C | - | IntronicSNV | - | 8/23 | 1 |
12-123694610-G-A | c.1187C>T | p.P396L | Missense | 8/24 | - | 1 |
12-123694611-G-A | c.1186C>T | p.P396S | Missense | 8/24 | - | 1 |
12-123694620-C-G | c.1177G>C | p.D393H | Missense | 8/24 | - | 1 |
12-123694622-G-T | c.1175C>A | p.T392K | Missense | 8/24 | - | 1 |
12-123694623-T-G | c.1174A>C | p.T392P | Missense | 8/24 | - | 2 |
12-123694638-T-G | c.1159A>C | p.I387L | Missense | 8/24 | - | 1 |
12-123694639-G-A | c.1158C>T | p.F386= | Synonymous | 8/24 | - | 1 |
12-123694643-G-T | c.1154C>A | p.T385K | Missense | 8/24 | - | 2 |
12-123694648-C-A | c.1149G>T | p.E383D | Missense | 8/24 | - | 3 |
12-123694648-C-G | c.1149G>C | p.E383D | Missense | 8/24 | - | 2 |
12-123694650-C-A | c.1147G>T | p.E383* | Nonsense | 8/24 | - | 2 |
12-123694659-C-T | c.1138G>A | p.E380K | Missense | 8/24 | - | 1 |
12-123694666-A-C | c.1131T>G | p.S377= | Synonymous | 8/24 | - | 1 |
12-123694666-A-G | c.1131T>C | p.S377= | Synonymous | 8/24 | - | 1 |
12-123694666-A-T | c.1131T>A | p.S377= | Synonymous | 8/24 | - | 1 |
12-123694667-G-A | c.1130C>T | p.S377F | Missense | 8/24 | - | 3 |
12-123694671-G-A | c.1126C>T | p.H376Y | Missense | 8/24 | - | 1 |
12-123694672-G-A | c.1125C>T | p.H375= | Synonymous | 8/24 | - | 3 |
12-123694680-C-T | c.1117G>A | p.D373N | Missense | 8/24 | - | 1 |
12-123694685-T-A | c.1112A>T | p.E371V | Missense | 8/24 | - | 1 |
12-123694686-C-T | c.1111G>A | p.E371K | Missense | 8/24 | - | 2 |
12-123694689-C-T | c.1108G>A | p.E370K | Missense | 8/24 | - | 1 |
12-123694700-T-G | c.1097A>C | p.Y366S | Missense | 8/24 | - | 3 |
12-123694703-G-A | c.1094C>T | p.T365I | Missense | 8/24 | - | 2 |
12-123694705-C-T | c.1092G>A | p.L364= | Synonymous | 8/24 | - | 1 |
12-123694707-A-G | c.1090T>C | p.L364= | Synonymous | 8/24 | - | 1 |
12-123694724-C-T | c.1088-15G>A | - | IntronicSNV | - | 7/23 | 8 |
12-123697041-G-A | c.1087+2250C>T | - | IntronicSNV | - | 7/23 | 1 |
12-123697531-T-A | c.1087+1760A>T | - | IntronicSNV | - | 7/23 | 1 |
12-123697531-T-C | c.1087+1760A>G | - | IntronicSNV | - | 7/23 | 1 |
12-123698603-A-G | c.1087+688T>C | - | IntronicSNV | - | 7/23 | 2 |
12-123698603-A-T | c.1087+688T>A | - | IntronicSNV | - | 7/23 | 2 |
12-123698790-T-C | c.1087+501A>G | - | IntronicSNV | - | 7/23 | 1 |
12-123699200-GTTT-G | c.1087+88_1087+90del | - | IntronicDeletion | - | 7/23 | 1 |
12-123699245-G-A | c.1087+46C>T | - | IntronicSNV | - | 7/23 | 1 |
12-123699296-C-T | c.1082G>A | p.G361E | Missense | 7/24 | - | 1 |
12-123699298-T-A | c.1080A>T | p.S360= | Synonymous | 7/24 | - | 1 |
12-123699298-T-C | c.1080A>G | p.S360= | Synonymous | 7/24 | - | 1 |
12-123699298-T-G | c.1080A>C | p.S360= | Synonymous | 7/24 | - | 1 |
12-123699303-C-G | c.1075G>C | p.D359H | Missense | 7/24 | - | 1 |
12-123699305-GA-CG | c.1072_1073delinsCG | p.S358R | Missense | 7/24 | - | 1 |
12-123699307-C-A | c.1071G>T | p.M357I | Missense | 7/24 | - | 1 |
12-123699307-C-G | c.1071G>C | p.M357I | Missense | 7/24 | - | 1 |
12-123699307-C-T | c.1071G>A | p.M357I | Missense | 7/24 | - | 1 |
12-123699314-G-A | c.1064C>T | p.A355V | Missense | 7/24 | - | 1 |
12-123699323-G-A | c.1055C>T | p.T352I | Missense | 7/24 | - | 1 |
12-123699330-C-G | c.1048G>C | p.D350H | Missense | 7/24 | - | 1 |
12-123699333-G-A | c.1045C>T | p.P349S | Missense | 7/24 | - | 1 |
12-123699352-AC-TT | c.1025_1026delinsAA | p.R342Q | Missense | 7/24 | - | 1 |
12-123699353-C-T | c.1025G>A | p.R342H | Missense | 7/24 | - | 1 |
12-123699371-G-A | c.1007C>T | p.A336V | Missense | 7/24 | - | 1 |
12-123699376-A-G | c.1002T>C | p.D334= | Synonymous | 7/24 | - | 1 |
12-123699520-A-G | c.997-139T>C | - | IntronicSNV | - | 6/23 | 7 |
12-123700225-C-T | c.997-844G>A | - | IntronicSNV | - | 6/23 | 2 |
12-123700476-T-A | c.997-1095A>T | - | IntronicSNV | - | 6/23 | 1 |
12-123702767-G-A | c.996+156C>T | - | IntronicSNV | - | 6/23 | 1 |
12-123702767-G-T | c.996+156C>A | - | IntronicSNV | - | 6/23 | 1 |
12-123702949-TG-T | c.970del | p.Q324Kfs*41 | Frameshift | 6/24 | - | 1 |
12-123702951-T-A | c.968A>T | p.E323V | Missense | 6/24 | - | 2 |
12-123702952-C-G | c.967G>C | p.E323Q | Missense | 6/24 | - | 1 |
12-123702952-C-T | c.967G>A | p.E323K | Missense | 6/24 | - | 1 |
12-123702956-T-A | c.963A>T | p.G321= | Synonymous | 6/24 | - | 1 |
12-123702956-T-C | c.963A>G | p.G321= | Synonymous | 6/24 | - | 1 |
12-123702956-T-G | c.963A>C | p.G321= | Synonymous | 6/24 | - | 1 |
12-123702966-G-A | c.953C>T | p.S318F | Missense | 6/24 | - | 1 |
12-123702966-G-T | c.953C>A | p.S318Y | Missense | 6/24 | - | 1 |
12-123702978-C-T | c.941G>A | p.G314E | Missense | 6/24 | - | 2 |
12-123702982-C-G | c.937G>C | p.D313H | Missense | 6/24 | - | 1 |
12-123702988-C-T | c.931G>A | p.V311I | Missense | 6/24 | - | 1 |
12-123702993-GCT-G | c.924_925del | p.R308Sfs*11 | Frameshift | 6/24 | - | 1 |
12-123702998-C-T | c.921G>A | p.K307= | Synonymous | 6/24 | - | 1 |
12-123703000-T-TA | c.918_919insT | p.K307* | Nonsense | 6/24 | - | 1 |
12-123703004-T-C | c.915A>G | p.Q305= | Synonymous | 6/24 | - | 1 |
12-123703011-T-C | c.908A>G | p.Q303R | Missense | 6/24 | - | 1 |
12-123703024-G-A | c.895C>T | p.Q299* | Nonsense | 6/24 | - | 1 |
12-123703026-G-A | c.893C>T | p.A298V | Missense | 6/24 | - | 1 |
12-123703033-A-G | c.886T>C | p.S296P | Missense | 6/24 | - | 1 |
12-123703034-T-A | c.885A>T | p.T295= | Synonymous | 6/24 | - | 1 |
12-123703034-T-C | c.885A>G | p.T295= | Synonymous | 6/24 | - | 1 |
12-123703034-T-G | c.885A>C | p.T295= | Synonymous | 6/24 | - | 1 |
12-123703035-G-A | c.884C>T | p.T295I | Missense | 6/24 | - | 3 |
12-123703036-T-C | c.883A>G | p.T295A | Missense | 6/24 | - | 2 |
12-123703041-G-A | c.878C>T | p.A293V | Missense | 6/24 | - | 2 |
12-123703103-T-C | c.873-57A>G | - | IntronicSNV | - | 5/23 | 3 |
12-123703226-T-A | c.873-180A>T | - | IntronicSNV | - | 5/23 | 2 |
12-123704569-C-T | c.872+1350G>A | - | IntronicSNV | - | 5/23 | 1 |
12-123705330-A-C | c.872+589T>G | - | IntronicSNV | - | 5/23 | 1 |
12-123705330-A-T | c.872+589T>A | - | IntronicSNV | - | 5/23 | 1 |
12-123705932-C-T | c.859G>A | p.G287R | Missense | 5/24 | - | 1 |
12-123705937-T-C | c.854A>G | p.Y285C | Missense | 5/24 | - | 2 |
12-123705942-T-A | c.849A>T | p.E283D | Missense | 5/24 | - | 1 |
12-123705942-T-G | c.849A>C | p.E283D | Missense | 5/24 | - | 1 |
12-123705954-ATT-TTA | c.835_837delinsTAA | p.N279* | Nonsense | 5/24 | - | 1 |
12-123705962-C-T | c.829G>A | p.G277S | Missense | 5/24 | - | 9 |
12-123705965-G-T | c.826C>A | p.L276I | Missense | 5/24 | - | 2 |
12-123705971-T-C | c.820A>G | p.N274D | Missense | 5/24 | - | 3 |
12-123705971-T-G | c.820A>C | p.N274H | Missense | 5/24 | - | 1 |
12-123705975-T-C | c.816A>G | p.E272= | Synonymous | 5/24 | - | 1 |
12-123705978-A-G | c.813T>C | p.F271= | Synonymous | 5/24 | - | 1 |
12-123705991-G-A | c.800C>T | p.S267F | Missense | 5/24 | - | 1 |
12-123705997-G-A | c.794C>T | p.S265F | Missense | 5/24 | - | 3 |
12-123706005-T-A | c.786A>T | p.E262D | Missense | 5/24 | - | 1 |
12-123706006-T-A | c.785A>T | p.E262V | Missense | 5/24 | - | 1 |
12-123706007-C-T | c.784G>A | p.E262K | Missense | 5/24 | - | 1 |
12-123706011-T-C | c.780A>G | p.L260= | Synonymous | 5/24 | - | 1 |
12-123706013-A-G | c.778T>C | p.L260= | Synonymous | 5/24 | - | 1 |
12-123706024-C-A | c.767G>T | p.C256F | Missense | 5/24 | - | 1 |
12-123706024-C-T | c.767G>A | p.C256Y | Missense | 5/24 | - | 1 |
12-123706031-C-T | c.760G>A | p.E254K | Missense | 5/24 | - | 1 |
12-123706051-T-G | c.740A>C | p.N247T | Missense | 5/24 | - | 1 |
12-123706055-C-G | c.736G>C | p.E246Q | Missense | 5/24 | - | 1 |
12-123706056-A-G | c.735T>C | p.N245= | Synonymous | 5/24 | - | 1 |
12-123706059-T-C | c.732A>G | p.K244= | Synonymous | 5/24 | - | 1 |
12-123706060-T-C | c.731A>G | p.K244R | Missense | 5/24 | - | 1 |
12-123706061-T-C | c.730A>G | p.K244E | Missense | 5/24 | - | 1 |
12-123706064-C-T | c.727G>A | p.V243M | Missense | 5/24 | - | 1 |
12-123706067-C-G | c.724G>C | p.G242R | Missense | 5/24 | - | 1 |
12-123706078-GA-CT | c.712_713delinsAG | p.S238R | Missense | 5/24 | - | 1 |
12-123706081-T-C | c.710A>G | p.E237G | Missense | 5/24 | - | 1 |
12-123706084-G-T | c.707C>A | p.A236D | Missense | 5/24 | - | 1 |
12-123706085-C-T | c.706G>A | p.A236T | Missense | 5/24 | - | 1 |
12-123706087-G-A | c.704C>T | p.P235L | Missense | 5/24 | - | 1 |
12-123706089-C-A | c.702G>T | p.V234= | Synonymous | 5/24 | - | 1 |
12-123706089-C-G | c.702G>C | p.V234= | Synonymous | 5/24 | - | 1 |
12-123706089-C-T | c.702G>A | p.V234= | Synonymous | 5/24 | - | 1 |
12-123706093-G-T | c.698C>A | p.A233E | Missense | 5/24 | - | 1 |
12-123706107-C-T | c.684G>A | p.Q228= | Synonymous | 5/24 | - | 1 |
12-123706112-C-T | c.679G>A | p.G227R | Missense | 5/24 | - | 1 |
12-123706117-G-A | c.674C>T | p.P225L | Missense | 5/24 | - | 1 |
12-123706118-G-A | c.673C>T | p.P225S | Missense | 5/24 | - | 1 |
12-123706118-G-C | c.673C>G | p.P225A | Missense | 5/24 | - | 1 |
12-123706120-A-G | c.671T>C | p.V224A | Missense | 5/24 | - | 1 |
12-123706121-C-A | c.670G>T | p.V224F | Missense | 5/24 | - | 1 |
12-123706133-C-T | c.658G>A | p.E220K | Missense | 5/24 | - | 1 |
12-123706139-A-C | c.652T>G | p.F218V | Missense | 5/24 | - | 1 |
12-123706156-GA-CG | c.634_635delinsCG | p.S212R | Missense | 5/24 | - | 1 |
12-123706158-T-A | c.633A>T | p.K211N | Missense | 5/24 | - | 1 |
12-123706164-C-A | c.627G>T | p.L209= | Synonymous | 5/24 | - | 1 |
12-123706164-C-G | c.627G>C | p.L209= | Synonymous | 5/24 | - | 1 |
12-123706164-C-T | c.627G>A | p.L209= | Synonymous | 5/24 | - | 1 |
12-123706166-G-A | c.625C>T | p.L209= | Synonymous | 5/24 | - | 1 |
12-123706179-G-A | c.612C>T | p.I204= | Synonymous | 5/24 | - | 1 |
12-123706192-C-T | c.599G>A | p.G200D | Missense | 5/24 | - | 2 |
12-123706193-C-G | c.598G>C | p.G200R | Missense | 5/24 | - | 1 |
12-123706204-CT-AA | c.586_587delinsTT | p.S196F | Missense | 5/24 | - | 1 |
12-123706211-A-G | c.580T>C | p.S194P | Missense | 5/24 | - | 1 |
12-123706221-CAC-GAT | c.568_570delinsATC | p.V190I | Missense | 5/24 | - | 1 |
12-123706225-T-C | c.566A>G | p.N189S | Missense | 5/24 | - | 1 |
12-123706239-T-G | c.552A>C | p.S184= | Synonymous | 5/24 | - | 1 |
12-123706240-G-A | c.551C>T | p.S184L | Missense | 5/24 | - | 2 |
12-123706243-G-A | c.548C>T | p.T183M | Missense | 5/24 | - | 1 |
12-123706246-GA-AG | c.544_545delinsCT | p.S182L | Missense | 5/24 | - | 1 |
12-123706248-C-A | c.543G>T | p.M181I | Missense | 5/24 | - | 1 |
12-123706248-C-G | c.543G>C | p.M181I | Missense | 5/24 | - | 1 |
12-123706248-C-T | c.543G>A | p.M181I | Missense | 5/24 | - | 1 |
12-123706252-T-A | c.539A>T | p.E180V | Missense | 5/24 | - | 1 |
12-123706257-C-A | c.534G>T | p.Q178H | Missense | 5/24 | - | 1 |
12-123706264-T-G | c.527A>C | p.E176A | Missense | 5/24 | - | 1 |
12-123706268-G-A | c.523C>T | p.P175S | Missense | 5/24 | - | 2 |
12-123706274-T-A | c.517A>T | p.T173S | Missense | 5/24 | - | 1 |
12-123706280-C-T | c.511G>A | p.E171K | Missense | 5/24 | - | 1 |
12-123706283-G-A | c.508C>T | p.P170S | Missense | 5/24 | - | 1 |
12-123706285-T-C | c.506A>G | p.Y169C | Missense | 5/24 | - | 1 |
12-123706289-G-A | c.502C>T | p.H168Y | Missense | 5/24 | - | 1 |
12-123706290-G-A | c.501C>T | p.I167= | Synonymous | 5/24 | - | 1 |
12-123706293-AAC-CAT | c.496_498delinsATG | p.V166M | Missense | 5/24 | - | 1 |
12-123706297-G-A | c.494C>T | p.S165F | Missense | 5/24 | - | 1 |
12-123706302-A-C | c.489T>G | p.N163K | Missense | 5/24 | - | 1 |
12-123706306-C-T | c.485G>A | p.R162K | Missense | 5/24 | - | 2 |
12-123706311-A-C | c.480T>G | p.S160R | Missense | 5/24 | - | 2 |
12-123706311-A-T | c.480T>A | p.S160R | Missense | 5/24 | - | 1 |
12-123706313-T-G | c.478A>C | p.S160R | Missense | 5/24 | - | 3 |
12-123706315-C-G | c.476G>C | p.S159T | Missense | 5/24 | - | 1 |
12-123706319-G-GA | c.471dup | p.L158Sfs*4 | Frameshift | 5/24 | - | 1 |
12-123706321-G-A | c.470C>T | p.S157F | Missense | 5/24 | - | 1 |
12-123706321-G-C | c.470C>G | p.S157C | Missense | 5/24 | - | 1 |
12-123706321-GA-G | c.469del | p.S157Lfs*2 | Frameshift | 5/24 | - | 3 |
12-123706321-G-GA | c.469dup | p.S157Ffs*5 | Frameshift | 5/24 | - | 1 |
12-123706337-G-A | c.454C>T | p.Q152* | Nonsense | 5/24 | - | 1 |
12-123706337-G-T | c.454C>A | p.Q152K | Missense | 5/24 | - | 1 |
12-123706338-A-C | c.453T>G | p.S151R | Missense | 5/24 | - | 1 |
12-123706338-A-T | c.453T>A | p.S151R | Missense | 5/24 | - | 1 |
12-123706340-T-G | c.451A>C | p.S151R | Missense | 5/24 | - | 1 |
12-123706339-C-T | c.452G>A | p.S151N | Missense | 5/24 | - | 1 |
12-123706345-G-A | c.446C>T | p.S149L | Missense | 5/24 | - | 6 |
12-123706353-T-C | c.438A>G | p.Q146= | Synonymous | 5/24 | - | 1 |
12-123706359-G-C | c.432C>G | p.N144K | Missense | 5/24 | - | 2 |
12-123706359-G-T | c.432C>A | p.N144K | Missense | 5/24 | - | 1 |
12-123706363-G-A | c.428C>T | p.S143L | Missense | 5/24 | - | 3 |
12-123706363-G-C | c.428C>G | p.S143* | Nonsense | 5/24 | - | 2 |
12-123706366-G-A | c.425C>T | p.S142F | Missense | 5/24 | - | 1 |
12-123706372-C-T | c.419G>A | p.G140E | Missense | 5/24 | - | 1 |
12-123706376-C-T | c.415G>A | p.E139K | Missense | 5/24 | - | 2 |
12-123706378-C-T | c.413G>A | p.C138Y | Missense | 5/24 | - | 1 |
12-123706379-AG-A | c.411del | p.C138Vfs*21 | Frameshift | 5/24 | - | 1 |
12-123706381-GA-TT | c.409_410delinsAA | p.S137N | Missense | 5/24 | - | 1 |
12-123706383-A-C | c.408T>G | p.A136= | Synonymous | 5/24 | - | 1 |
12-123706383-A-G | c.408T>C | p.A136= | Synonymous | 5/24 | - | 1 |
12-123706383-A-T | c.408T>A | p.A136= | Synonymous | 5/24 | - | 1 |
12-123706385-C-T | c.406G>A | p.A136T | Missense | 5/24 | - | 1 |
12-123706393-G-A | c.398C>T | p.A133V | Missense | 5/24 | - | 1 |
12-123706397-T-C | c.394A>G | p.S132G | Missense | 5/24 | - | 1 |
12-123706409-AT-A | c.381del | p.K127Nfs*9 | Frameshift | 5/24 | - | 1 |
12-123706412-T-A | c.379A>T | p.K127* | Nonsense | 5/24 | - | 1 |
12-123706413-G-A | c.378C>T | p.V126= | Synonymous | 5/24 | - | 1 |
12-123706416-T-A | c.375A>T | p.L125F | Missense | 5/24 | - | 1 |
12-123706418-A-C | c.373T>G | p.L125V | Missense | 5/24 | - | 2 |
12-123706423-T-A | c.368A>T | p.K123I | Missense | 5/24 | - | 1 |
12-123706424-T-G | c.367A>C | p.K123Q | Missense | 5/24 | - | 2 |
12-123706427-T-C | c.364A>G | p.I122V | Missense | 5/24 | - | 2 |
12-123706427-T-G | c.364A>C | p.I122L | Missense | 5/24 | - | 1 |
12-123707511-G-A | c.348+74C>T | - | IntronicSNV | - | 4/23 | 2 |
12-123707511-G-C | c.348+74C>G | - | IntronicSNV | - | 4/23 | 2 |
12-123707527-GTA-G | c.348+56_348+57del | - | IntronicDeletion | - | 4/23 | 1 |
12-123707553-A-C | c.348+32T>G | - | IntronicSNV | - | 4/23 | 2 |
12-123707553-A-T | c.348+32T>A | - | IntronicSNV | - | 4/23 | 2 |
12-123707552-TA-T | c.348+32del | - | IntronicDeletion | - | 4/23 | 1 |
12-123707591-T-G | c.342A>C | p.Q114H | Missense | 4/24 | - | 1 |
12-123707594-G-A | c.339C>T | p.N113= | Synonymous | 4/24 | - | 1 |
12-123707603-C-A | c.330G>T | p.Q110H | Missense | 4/24 | - | 1 |
12-123707605-G-A | c.328C>T | p.Q110* | Nonsense | 4/24 | - | 1 |
12-123707641-T-TA | c.291_292insT | p.K98* | Nonsense | 4/24 | - | 1 |
12-123707650-A-G | c.283T>C | p.L95= | Synonymous | 4/24 | - | 1 |
12-123707654-G-A | c.279C>T | p.F93= | Synonymous | 4/24 | - | 1 |
12-123707661-T-C | c.272A>G | p.Q91R | Missense | 4/24 | - | 1 |
12-123707663-T-A | c.270A>T | p.L90F | Missense | 4/24 | - | 1 |
12-123707663-T-G | c.270A>C | p.L90F | Missense | 4/24 | - | 1 |
12-123710778-TATA-T | c.258+1229_258+1231del | - | IntronicDeletion | - | 3/23 | 1 |
12-123710835-A-C | c.258+1175T>G | - | IntronicSNV | - | 3/23 | 2 |
12-123712030-C-A | c.238G>T | p.E80* | Nonsense | 3/24 | - | 1 |
12-123712030-C-T | c.238G>A | p.E80K | Missense | 3/24 | - | 1 |
12-123712031-C-A | c.237G>T | p.S79= | Synonymous | 3/24 | - | 2 |
12-123712031-C-G | c.237G>C | p.S79= | Synonymous | 3/24 | - | 2 |
12-123712031-C-T | c.237G>A | p.S79= | Synonymous | 3/24 | - | 2 |
12-123712049-G-A | c.219C>T | p.N73= | Synonymous | 3/24 | - | 1 |
12-123712058-C-A | c.210G>T | p.E70D | Missense | 3/24 | - | 1 |
12-123712063-G-T | c.205C>A | p.Q69K | Missense | 3/24 | - | 1 |
12-123712064-C-T | c.204G>A | p.M68I | Missense | 3/24 | - | 1 |
12-123712069-AAG-A | c.197_198del | p.S66Ffs*12 | Frameshift | 3/24 | - | 1 |
12-123712073-A-C | c.195T>G | p.T65= | Synonymous | 3/24 | - | 1 |
12-123712073-A-G | c.195T>C | p.T65= | Synonymous | 3/24 | - | 1 |
12-123712073-A-T | c.195T>A | p.T65= | Synonymous | 3/24 | - | 1 |
12-123712075-T-G | c.193A>C | p.T65P | Missense | 3/24 | - | 1 |
12-123712085-AAC-CAT | c.181_183delinsATG | p.V61M | Missense | 3/24 | - | 1 |
12-123712091-A-T | c.177T>A | p.G59= | Synonymous | 3/24 | - | 1 |
12-123712096-G-C | c.172C>G | p.Q58E | Missense | 3/24 | - | 1 |
12-123712101-A-G | c.167T>C | p.V56A | Missense | 3/24 | - | 1 |
12-123712110-CT-AG | c.157_158inv | p.R53L | Missense | 3/24 | - | 1 |
12-123712112-G-T | c.156C>A | p.T52= | Synonymous | 3/24 | - | 1 |
12-123712117-T-TA | c.150_151insT | p.K51* | Nonsense | 3/24 | - | 1 |
12-123712118-C-A | c.150G>T | p.G50= | Synonymous | 3/24 | - | 1 |
12-123712118-C-G | c.150G>C | p.G50= | Synonymous | 3/24 | - | 1 |
12-123712118-C-T | c.150G>A | p.G50= | Synonymous | 3/24 | - | 1 |
12-123712124-G-A | c.144C>T | p.F48= | Synonymous | 3/24 | - | 1 |
12-123712127-A-G | c.141T>C | p.S47= | Synonymous | 3/24 | - | 1 |
12-123712130-G-A | c.138C>T | p.S46= | Synonymous | 3/24 | - | 1 |
12-123712130-G-C | c.138C>G | p.S46= | Synonymous | 3/24 | - | 1 |
12-123712130-G-T | c.138C>A | p.S46= | Synonymous | 3/24 | - | 1 |
12-123712136-CCC-GCT | c.130_132delinsAGC | p.G44S | Missense | 3/24 | - | 1 |
12-123712146-AC-A | c.122del | p.S41Ifs*16 | Frameshift | 3/24 | - | 1 |
12-123712146-CT-AG | c.121_122inv | p.S41L | Missense | 3/24 | - | 1 |
12-123712148-A-C | c.120T>G | p.L40= | Synonymous | 3/24 | - | 1 |
12-123712148-A-G | c.120T>C | p.L40= | Synonymous | 3/24 | - | 1 |
12-123712148-A-T | c.120T>A | p.L40= | Synonymous | 3/24 | - | 1 |
12-123712416-G-A | c.105-253C>T | - | IntronicSNV | - | 2/23 | 2 |
12-123714689-T-C | c.104+119A>G | - | IntronicSNV | - | 2/23 | 1 |
12-123714736-T-A | c.104+72A>T | - | IntronicSNV | - | 2/23 | 2 |
12-123714805-T-TA | c.104+2dup | - | SpliceDonorInsertion | - | 2/23 | 1 |
12-123714809-T-C | c.103A>G | p.R35G | Missense | 2/24 | - | 1 |
12-123714815-T-C | c.97A>G | p.T33A | Missense | 2/24 | - | 1 |
12-123714819-T-A | c.93A>T | p.L31F | Missense | 2/24 | - | 1 |
12-123714819-T-G | c.93A>C | p.L31F | Missense | 2/24 | - | 1 |
12-123714832-AG-GC | c.79_80delinsGC | p.L27A | Missense | 2/24 | - | 1 |
12-123714835-G-C | c.77C>G | p.S26C | Missense | 2/24 | - | 1 |
12-123714836-A-T | c.76T>A | p.S26T | Missense | 2/24 | - | 1 |
12-123714845-A-G | c.67T>C | p.S23P | Missense | 2/24 | - | 1 |
12-123714851-C-T | c.61G>A | p.E21K | Missense | 2/24 | - | 2 |
12-123714855-A-C | c.57T>G | p.S19= | Synonymous | 2/24 | - | 1 |
12-123714855-A-G | c.57T>C | p.S19= | Synonymous | 2/24 | - | 1 |
12-123714855-A-T | c.57T>A | p.S19= | Synonymous | 2/24 | - | 1 |
12-123714858-T-C | c.54A>G | p.G18= | Synonymous | 2/24 | - | 1 |
12-123714863-C-T | c.49G>A | p.V17I | Missense | 2/24 | - | 1 |
12-123714872-A-G | c.40T>C | p.S14P | Missense | 2/24 | - | 1 |
12-123714874-G-A | c.38C>T | p.T13I | Missense | 2/24 | - | 2 |
12-123714884-A-T | c.28T>A | p.L10I | Missense | 2/24 | - | 1 |
12-123714898-T-TA | c.13_14insT | p.D5Vfs*16 | Frameshift | 2/24 | - | 1 |
12-123714899-TC-T | c.13del | p.D5Tfs*3 | Frameshift | 2/24 | - | 1 |
12-123714906-T-A | c.6A>T | p.E2D | Missense | 2/24 | - | 2 |
12-123714906-T-G | c.6A>C | p.E2D | Missense | 2/24 | - | 2 |
12-123714910-A-G | c.2T>C | p.M1? | Missense | 2/24 | - | 1 |
12-123715113-C-T | c.-158-44G>A | - | IntronicSNV | - | 1/23 | 2 |
12-123715266-T-A | c.-158-197A>T | - | IntronicSNV | - | 1/23 | 1 |
12-123715266-T-C | c.-158-197A>G | - | IntronicSNV | - | 1/23 | 1 |
12-123716376-C-T | c.-159+1246G>A | - | intron_variant | - | 1/23 | 1 |