MPHOSPH9

MPHOSPH9 M-phase phosphoprotein 9

Annotation transcript: NM_022782.4

832 unique variant annotations were identified in 384 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
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