CSMD1 CUB and Sushi multiple domains 1

Canonical transcript: NM_033225

1106 unique variant annotations were identified in 675 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
8-2795835-T-C c.*272A>G - 3-UTRSNV 70/70 - 4
8-2796181-T-C c.10621A>G p.Thr3541Ala Missense 70/70 - 1
8-2799288-T-A c.10535+706A>T - IntronicSNV - 69/69 1
8-2799288-T-C c.10535+706A>G - IntronicSNV - 69/69 1
8-2800096-C-G c.10433G>C p.Ser3478Thr Missense 69/70 - 1
8-2800096-C-T c.10433G>A p.Ser3478Asn Missense 69/70 - 1
8-2802745-T-C c.10403-2619A>G - IntronicSNV - 68/69 1
8-2806886-C-T c.10337G>A p.Gly3446Glu Missense 68/70 - 2
8-2808626-C-T c.10201+10G>A - IntronicSNV - 66/69 1
8-2808730-T-A c.10107A>T p.Gln3369His Missense 66/70 - 1
8-2808730-T-G c.10107A>C p.Gln3369His Missense 66/70 - 1
8-2808772-A-C c.10065T>G p.Asn3355Lys Missense 66/70 - 1
8-2808772-A-T c.10065T>A p.Asn3355Lys Missense 66/70 - 1
8-2809581-T-A c.10040-784A>T - IntronicSNV - 65/69 6
8-2809792-T-A c.10040-995A>T - IntronicSNV - 65/69 1
8-2809792-T-C c.10040-995A>G - IntronicSNV - 65/69 1
8-2811745-C-G c.10039+1G>C - IntronicSNV - 65/69 1
8-2813083-G-C c.9994+28C>G - IntronicSNV - 64/69 1
8-2813254-G-A c.9851C>T p.Ala3284Val Missense 64/70 - 1
8-2819809-T-A c.9628+179A>T - IntronicSNV - 61/69 1
8-2819809-T-C c.9628+179A>G - IntronicSNV - 61/69 1
8-2820021-C-G c.9595G>C p.Gly3199Arg Missense 61/70 - 1
8-2820038-C-T c.9578G>A p.Arg3193Lys Missense 61/70 - 1
8-2820745-G-A c.9453C>T p.Leu3151Leu Synonymous 60/70 - 1
8-2820745-G-C c.9453C>G p.Leu3151Leu Synonymous 60/70 - 1
8-2823344-C-T c.9233G>A p.Arg3078His Missense 59/70 - 1
8-2824162-C-A c.9030G>T p.Lys3010Asn Missense 58/70 - 1
8-2824162-C-G c.9030G>C p.Lys3010Asn Missense 58/70 - 1
8-2824233-C-T c.8959G>A p.Gly2987Arg Missense 58/70 - 1
8-2830843-G-A c.8741-22C>T - IntronicSNV - 56/69 1
8-2830843-G-T c.8741-22C>A - IntronicSNV - 56/69 1
8-2832155-A-G c.8567-9T>C - IntronicSNV - 55/69 1
8-2833794-G-A c.8567-1648C>T - IntronicSNV - 55/69 1
8-2833794-G-C c.8567-1648C>G - IntronicSNV - 55/69 1
8-2836166-C-T c.8534G>A p.Gly2845Asp Missense 55/70 - 1
8-2851416-C-T c.8377+4117G>A - IntronicSNV - 54/69 1
8-2857521-A-C c.8162T>G p.Leu2721Arg Missense 53/70 - 1
8-2857552-G-A c.8131C>T p.Arg2711Trp Missense 53/70 - 1
8-2857641-C-T c.8042G>A p.Gly2681Asp Missense 53/70 - 1
8-2860515-A-G c.8030-2862T>C - IntronicSNV - 52/69 1
8-2860602-C-A c.8030-2949G>T - IntronicSNV - 52/69 1
8-2860602-C-T c.8030-2949G>A - IntronicSNV - 52/69 1
8-2866345-T-C c.8030-8692A>G - IntronicSNV - 52/69 1
8-2885662-A-G c.7855+1179T>C - IntronicSNV - 51/69 1
8-2886013-G-A c.7855+828C>T - IntronicSNV - 51/69 1
8-2891737-A-C c.7661-4702T>G - IntronicSNV - 50/69 1
8-2891737-A-G c.7661-4702T>C - IntronicSNV - 50/69 1
8-2891737-A-T c.7661-4702T>A - IntronicSNV - 50/69 1
8-2897310-C-G c.7661-10275G>C - IntronicSNV - 50/69 2
8-2897343-C-G c.7661-10308G>C - IntronicSNV - 50/69 1
8-2900054-G-T c.7660+9930C>A - IntronicSNV - 50/69 1
8-2903020-A-G c.7660+6964T>C - IntronicSNV - 50/69 6
8-2903020-A-T c.7660+6964T>A - IntronicSNV - 50/69 6
8-2906982-C-T c.7660+3002G>A - IntronicSNV - 50/69 1
8-2909984-G-A c.7660C>T p.Pro2554Ser Missense 50/70 - 1
8-2909984-G-C c.7660C>G p.Pro2554Ala Missense 50/70 - 1
8-2909984-G-T c.7660C>A p.Pro2554Thr Missense 50/70 - 1
8-2909992-G-A c.7652C>T p.Thr2551Met Missense 50/70 - 2
8-2909992-G-T c.7652C>A p.Thr2551Lys Missense 50/70 - 2
8-2910077-C-A c.7567G>T p.Glu2523* Nonsense 50/70 - 1
8-2911322-G-A c.7475-1153C>T - IntronicSNV - 49/69 1
8-2915862-G-A c.7475-5693C>T - IntronicSNV - 49/69 2
8-2923691-G-A c.7475-13522C>T - IntronicSNV - 49/69 1
8-2923691-G-C c.7475-13522C>G - IntronicSNV - 49/69 1
8-2923969-A-G c.7475-13800T>C - IntronicSNV - 49/69 2
8-2924014-C-T c.7475-13845G>A - IntronicSNV - 49/69 2
8-2924238-G-A c.7475-14069C>T - IntronicSNV - 49/69 2
8-2926075-A-G c.7475-15906T>C - IntronicSNV - 49/69 1
8-2926075-A-T c.7475-15906T>A - IntronicSNV - 49/69 1
8-2929249-A-G c.7474+15370T>C - IntronicSNV - 49/69 1
8-2929436-A-G c.7474+15183T>C - IntronicSNV - 49/69 1
8-2929436-A-T c.7474+15183T>A - IntronicSNV - 49/69 1
8-2930476-G-A c.7474+14143C>T - IntronicSNV - 49/69 1
8-2930476-G-T c.7474+14143C>A - IntronicSNV - 49/69 1
8-2930834-T-C c.7474+13785A>G - IntronicSNV - 49/69 1
8-2930834-T-G c.7474+13785A>C - IntronicSNV - 49/69 1
8-2935073-A-C c.7474+9546T>G - IntronicSNV - 49/69 1
8-2935073-A-T c.7474+9546T>A - IntronicSNV - 49/69 1
8-2935178-T-C c.7474+9441A>G - IntronicSNV - 49/69 1
8-2936762-G-A c.7474+7857C>T - IntronicSNV - 49/69 1
8-2938696-G-A c.7474+5923C>T - IntronicSNV - 49/69 2
8-2938696-G-C c.7474+5923C>G - IntronicSNV - 49/69 2
8-2944669-C-T c.7424G>A p.Arg2475Gln Missense 49/70 - 1
8-2949091-C-T c.7232G>A p.Arg2411His Missense 48/70 - 1
8-2950533-G-A c.7139-1349C>T - IntronicSNV - 47/69 1
8-2955118-T-C c.6950-559A>G - IntronicSNV - 46/69 1
8-2955158-T-C c.6950-599A>G - IntronicSNV - 46/69 1
8-2956230-A-C c.6950-1671T>G - IntronicSNV - 46/69 1
8-2956478-C-A c.6950-1919G>T - IntronicSNV - 46/69 1
8-2958569-C-A c.6950-4010G>T - IntronicSNV - 46/69 1
8-2958569-C-T c.6950-4010G>A - IntronicSNV - 46/69 1
8-2958662-G-A c.6950-4103C>T - IntronicSNV - 46/69 2
8-2958909-A-C c.6950-4350T>G - IntronicSNV - 46/69 1
8-2958909-A-T c.6950-4350T>A - IntronicSNV - 46/69 1
8-2964206-T-C c.6836-43A>G - IntronicSNV - 45/69 1
8-2964684-C-G c.6836-521G>C - IntronicSNV - 45/69 1
8-2964684-C-T c.6836-521G>A - IntronicSNV - 45/69 1
8-2965244-T-C c.6831A>G p.Glu2277Glu Synonymous 45/70 - 1
8-2965291-G-C c.6784C>G p.Pro2262Ala Missense 45/70 - 2
8-2966328-T-C c.6609-58A>G - IntronicSNV - 43/69 1
8-2966328-T-G c.6609-58A>C - IntronicSNV - 43/69 1
8-2967639-G-T c.6608+41C>A - IntronicSNV - 43/69 1
8-2967713-T-C c.6575A>G p.Gln2192Arg Missense 43/70 - 1
8-2967782-A-G c.6506T>C p.Leu2169Pro Missense 43/70 - 1
8-2973853-T-C c.6430+2068A>G - IntronicSNV - 42/69 1
8-2975578-T-C c.6430+343A>G - IntronicSNV - 42/69 1
8-2975781-G-A c.6430+140C>T - IntronicSNV - 42/69 3
8-2975905-A-G c.6430+16T>C - IntronicSNV - 42/69 1
8-2975943-G-C c.6408C>G p.Asn2136Lys Missense 42/70 - 1
8-2980123-A-G c.6242-4014T>C - IntronicSNV - 41/69 1
8-2990407-G-C c.6241+9580C>G - IntronicSNV - 41/69 1
8-3000240-G-A c.6032-44C>T - IntronicSNV - 40/69 1
8-3000240-G-C c.6032-44C>G - IntronicSNV - 40/69 1
8-3002967-T-G c.6032-2771A>C - IntronicSNV - 40/69 1
8-3015448-C-T c.5885G>A p.Arg1962His Missense 39/70 - 2
8-3015710-C-G c.5845-222G>C - IntronicSNV - 38/69 1
8-3020423-T-A c.5726-624A>T - IntronicSNV - 37/69 1
8-3025495-T-C c.5726-5696A>G - IntronicSNV - 37/69 1
8-3032815-T-C c.5725+5817A>G - IntronicSNV - 37/69 1
8-3034663-A-C c.5725+3969T>G - IntronicSNV - 37/69 1
8-3043312-G-A c.5620+2079C>T - IntronicSNV - 36/69 1
8-3045187-T-C c.5620+204A>G - IntronicSNV - 36/69 1
8-3046419-G-A c.5513C>T p.Ser1838Leu Missense 35/70 - 1
8-3047524-C-G c.5308G>C p.Gly1770Arg Missense 34/70 - 1
8-3047524-C-T c.5308G>A p.Gly1770Arg Missense 34/70 - 1
8-3047536-C-T c.5296G>A p.Glu1766Lys Missense 34/70 - 1
8-3049799-A-G c.5195-2162T>C - IntronicSNV - 33/69 1
8-3049959-A-C c.5195-2322T>G - IntronicSNV - 33/69 1
8-3050524-C-A c.5195-2887G>T - IntronicSNV - 33/69 1
8-3050524-C-T c.5195-2887G>A - IntronicSNV - 33/69 1
8-3052978-G-A c.5194+4258C>T - IntronicSNV - 33/69 1
8-3053592-G-A c.5194+3644C>T - IntronicSNV - 33/69 1
8-3053592-G-T c.5194+3644C>A - IntronicSNV - 33/69 1
8-3054633-C-A c.5194+2603G>T - IntronicSNV - 33/69 1
8-3054633-C-T c.5194+2603G>A - IntronicSNV - 33/69 1
8-3054804-T-C c.5194+2432A>G - IntronicSNV - 33/69 1
8-3054804-T-G c.5194+2432A>C - IntronicSNV - 33/69 1
8-3058148-G-A c.5099-817C>T - IntronicSNV - 32/69 1
8-3058148-G-C c.5099-817C>G - IntronicSNV - 32/69 1
8-3058148-G-T c.5099-817C>A - IntronicSNV - 32/69 1
8-3060466-G-C c.4985-1219C>G - IntronicSNV - 31/69 2
8-3060466-G-T c.4985-1219C>A - IntronicSNV - 31/69 2
8-3061993-G-A c.4984+1033C>T - IntronicSNV - 31/69 2
8-3071514-C-G c.4867+505G>C - IntronicSNV - 30/69 1
8-3071514-C-T c.4867+505G>A - IntronicSNV - 30/69 1
8-3073489-A-G c.4673-1276T>C - IntronicSNV - 29/69 6
8-3073926-T-C c.4673-1713A>G - IntronicSNV - 29/69 1
8-3075006-T-A c.4672+1771A>T - IntronicSNV - 29/69 1
8-3075038-C-A c.4672+1739G>T - IntronicSNV - 29/69 1
8-3075038-C-T c.4672+1739G>A - IntronicSNV - 29/69 1
8-3076959-T-A c.4490A>T p.Asn1497Ile Missense 29/70 - 2
8-3076959-T-C c.4490A>G p.Asn1497Ser Missense 29/70 - 2
8-3081368-G-C c.4367C>G p.Thr1456Arg Missense 28/70 - 1
8-3087687-C-G c.4220G>C p.Arg1407Thr Missense 27/70 - 1
8-3088173-T-C c.4154-420A>G - IntronicSNV - 26/69 4
8-3091584-G-T c.4154-3831C>A - IntronicSNV - 26/69 2
8-3093985-C-T c.4154-6232G>A - IntronicSNV - 26/69 1
8-3098640-C-A c.4154-10887G>T - IntronicSNV - 26/69 1
8-3098640-C-T c.4154-10887G>A - IntronicSNV - 26/69 1
8-3101446-T-A c.4154-13693A>T - IntronicSNV - 26/69 1
8-3101447-T-C c.4154-13694A>G - IntronicSNV - 26/69 1
8-3122865-C-T c.4153+18801G>A - IntronicSNV - 26/69 1
8-3123493-T-C c.4153+18173A>G - IntronicSNV - 26/69 1
8-3123845-C-T c.4153+17821G>A - IntronicSNV - 26/69 1
8-3127088-C-G c.4153+14578G>C - IntronicSNV - 26/69 1
8-3127088-C-T c.4153+14578G>A - IntronicSNV - 26/69 1
8-3127119-T-C c.4153+14547A>G - IntronicSNV - 26/69 1
8-3127408-T-C c.4153+14258A>G - IntronicSNV - 26/69 1
8-3127408-T-G c.4153+14258A>C - IntronicSNV - 26/69 1
8-3127513-A-G c.4153+14153T>C - IntronicSNV - 26/69 1
8-3134239-C-A c.4153+7427G>T - IntronicSNV - 26/69 2
8-3134239-C-T c.4153+7427G>A - IntronicSNV - 26/69 2
8-3135135-C-A c.4153+6531G>T - IntronicSNV - 26/69 1
8-3135135-C-T c.4153+6531G>A - IntronicSNV - 26/69 1
8-3139715-C-G c.4153+1951G>C - IntronicSNV - 26/69 1
8-3139715-C-T c.4153+1951G>A - IntronicSNV - 26/69 1
8-3141695-C-A c.4124G>T p.Ser1375Ile Missense 26/70 - 1
8-3141695-C-G c.4124G>C p.Ser1375Thr Missense 26/70 - 1
8-3141695-C-T c.4124G>A p.Ser1375Asn Missense 26/70 - 1
8-3141735-T-C c.4084A>G p.Asn1362Asp Missense 26/70 - 1
8-3141830-T-A c.3989A>T p.Asp1330Val Missense 26/70 - 1
8-3147359-A-C c.3951-5491T>G - IntronicSNV - 25/69 2
8-3148940-T-A c.3951-7072A>T - IntronicSNV - 25/69 1
8-3154208-G-C c.3950+11009C>G - IntronicSNV - 25/69 1
8-3156220-C-T c.3950+8997G>A - IntronicSNV - 25/69 1
8-3156582-C-G c.3950+8635G>C - IntronicSNV - 25/69 1
8-3159524-G-A c.3950+5693C>T - IntronicSNV - 25/69 1
8-3159524-G-C c.3950+5693C>G - IntronicSNV - 25/69 1
8-3159561-T-C c.3950+5656A>G - IntronicSNV - 25/69 1
8-3160221-C-T c.3950+4996G>A - IntronicSNV - 25/69 1
8-3164615-T-A c.3950+602A>T - IntronicSNV - 25/69 1
8-3164615-T-C c.3950+602A>G - IntronicSNV - 25/69 1
8-3164615-T-G c.3950+602A>C - IntronicSNV - 25/69 1
8-3165207-A-C c.3950+10T>G - IntronicSNV - 25/69 1
8-3165207-A-G c.3950+10T>C - IntronicSNV - 25/69 1
8-3165207-A-T c.3950+10T>A - IntronicSNV - 25/69 1
8-3165238-G-A c.3929C>T p.Ala1310Val Missense 25/70 - 1
8-3165341-C-T c.3826G>A p.Glu1276Lys Missense 25/70 - 1
8-3165471-C-A c.3824-128G>T - IntronicSNV - 24/69 1
8-3165471-C-G c.3824-128G>C - IntronicSNV - 24/69 1
8-3165478-C-A c.3824-135G>T - IntronicSNV - 24/69 1
8-3165478-C-G c.3824-135G>C - IntronicSNV - 24/69 1
8-3165478-C-T c.3824-135G>A - IntronicSNV - 24/69 1
8-3165842-G-A c.3815C>T p.Ser1272Leu Missense 24/70 - 1
8-3165842-G-C c.3815C>G p.Ser1272Trp Missense 24/70 - 1
8-3165911-G-T c.3746C>A p.Ala1249Asp Missense 24/70 - 1
8-3167452-A-G c.3632-1427T>C - IntronicSNV - 23/69 1
8-3167452-A-T c.3632-1427T>A - IntronicSNV - 23/69 1
8-3168454-C-G c.3632-2429G>C - IntronicSNV - 23/69 1
8-3168454-C-T c.3632-2429G>A - IntronicSNV - 23/69 1
8-3169873-A-G c.3632-3848T>C - IntronicSNV - 23/69 1
8-3170735-A-C c.3632-4710T>G - IntronicSNV - 23/69 1
8-3170735-A-G c.3632-4710T>C - IntronicSNV - 23/69 1
8-3170754-C-G c.3632-4729G>C - IntronicSNV - 23/69 1
8-3171710-T-A c.3632-5685A>T - IntronicSNV - 23/69 1
8-3172400-A-C c.3632-6375T>G - IntronicSNV - 23/69 1
8-3172400-A-T c.3632-6375T>A - IntronicSNV - 23/69 1
8-3173522-C-G c.3632-7497G>C - IntronicSNV - 23/69 1
8-3173522-C-T c.3632-7497G>A - IntronicSNV - 23/69 1
8-3174478-C-G c.3632-8453G>C - IntronicSNV - 23/69 1
8-3174478-C-T c.3632-8453G>A - IntronicSNV - 23/69 1
8-3174503-G-A c.3632-8478C>T - IntronicSNV - 23/69 1
8-3175440-C-T c.3632-9415G>A - IntronicSNV - 23/69 1
8-3176385-C-A c.3632-10360G>T - IntronicSNV - 23/69 1
8-3176385-C-T c.3632-10360G>A - IntronicSNV - 23/69 1
8-3177911-C-A c.3632-11886G>T - IntronicSNV - 23/69 2
8-3177911-C-G c.3632-11886G>C - IntronicSNV - 23/69 2
8-3177911-C-T c.3632-11886G>A - IntronicSNV - 23/69 2
8-3178349-G-A c.3632-12324C>T - IntronicSNV - 23/69 1
8-3178349-G-C c.3632-12324C>G - IntronicSNV - 23/69 1
8-3178349-G-T c.3632-12324C>A - IntronicSNV - 23/69 1
8-3180990-T-C c.3632-14965A>G - IntronicSNV - 23/69 1
8-3184613-G-C c.3631+16203C>G - IntronicSNV - 23/69 1
8-3184613-G-T c.3631+16203C>A - IntronicSNV - 23/69 1
8-3187176-C-A c.3631+13640G>T - IntronicSNV - 23/69 1
8-3187176-C-T c.3631+13640G>A - IntronicSNV - 23/69 1
8-3189896-A-G c.3631+10920T>C - IntronicSNV - 23/69 1
8-3190870-G-C c.3631+9946C>G - IntronicSNV - 23/69 1
8-3190870-G-T c.3631+9946C>A - IntronicSNV - 23/69 1
8-3196871-T-C c.3631+3945A>G - IntronicSNV - 23/69 1
8-3200977-T-A c.3475-5A>T - IntronicSNV - 22/69 1
8-3200977-T-C c.3475-5A>G - IntronicSNV - 22/69 1
8-3216025-T-A c.3304+649A>T - IntronicSNV - 21/69 1
8-3216025-T-C c.3304+649A>G - IntronicSNV - 21/69 1
8-3216025-T-G c.3304+649A>C - IntronicSNV - 21/69 1
8-3216691-G-C c.3287C>G p.Pro1096Arg Missense 21/70 - 1
8-3216814-C-T c.3164G>A p.Arg1055Gln Missense 21/70 - 1
8-3219559-G-A c.3116-2697C>T - IntronicSNV - 20/69 1
8-3219559-G-T c.3116-2697C>A - IntronicSNV - 20/69 1
8-3222537-A-G c.3115+2017T>C - IntronicSNV - 20/69 1
8-3224561-T-A c.3108A>T p.Thr1036Thr Synonymous 20/70 - 1
8-3224561-T-C c.3108A>G p.Thr1036Thr Synonymous 20/70 - 1
8-3224561-T-G c.3108A>C p.Thr1036Thr Synonymous 20/70 - 1
8-3229730-A-C c.2783-2838T>G - IntronicSNV - 18/69 1
8-3229730-A-T c.2783-2838T>A - IntronicSNV - 18/69 1
8-3231137-G-A c.2783-4245C>T - IntronicSNV - 18/69 1
8-3232044-C-T c.2783-5152G>A - IntronicSNV - 18/69 1
8-3238074-C-T c.2782+6942G>A - IntronicSNV - 18/69 1
8-3247408-A-C c.2594-2204T>G - IntronicSNV - 17/69 1
8-3247408-A-G c.2594-2204T>C - IntronicSNV - 17/69 1
8-3253070-A-C c.2593+646T>G - IntronicSNV - 17/69 1
8-3253070-A-T c.2593+646T>A - IntronicSNV - 17/69 1
8-3253768-C-G c.2541G>C p.Leu847Leu Synonymous 17/70 - 1
8-3253768-C-T c.2541G>A p.Leu847Leu Synonymous 17/70 - 1
8-3254900-A-T c.2406-997T>A - IntronicSNV - 16/69 1
8-3255336-C-T c.2406-1433G>A - IntronicSNV - 16/69 1
8-3257401-C-A c.2267-350G>T - IntronicSNV - 15/69 1
8-3257401-C-T c.2267-350G>A - IntronicSNV - 15/69 1
8-3260975-C-A c.2266+2574G>T - IntronicSNV - 15/69 1
8-3260975-C-T c.2266+2574G>A - IntronicSNV - 15/69 1
8-3263500-T-C c.2266+49A>G - IntronicSNV - 15/69 1
8-3263723-G-T c.2092C>A p.His698Asn Missense 15/70 - 1
8-3263737-C-A c.2078G>T p.Gly693Val Missense 15/70 - 1
8-3263737-C-G c.2078G>C p.Gly693Ala Missense 15/70 - 1
8-3263737-C-T c.2078G>A p.Gly693Asp Missense 15/70 - 1
8-3265456-G-C c.2036C>G p.Ser679Cys Missense 14/70 - 1
8-3265577-C-T c.1915G>A p.Ala639Thr Missense 14/70 - 1
8-3265590-C-A c.1902G>T p.Gln634His Missense 14/70 - 2
8-3265590-C-T c.1902G>A p.Gln634Gln Synonymous 14/70 - 2
8-3265619-T-G c.1873A>C p.Ile625Leu Missense 14/70 - 1
8-3265665-G-C c.1827C>G p.Asn609Lys Missense 14/70 - 1
8-3265665-G-T c.1827C>A p.Asn609Lys Missense 14/70 - 1
8-3265681-T-C c.1811A>G p.Tyr604Cys Missense 14/70 - 1
8-3265681-T-G c.1811A>C p.Tyr604Ser Missense 14/70 - 1
8-3265703-A-G c.1789T>C p.Ser597Pro Missense 14/70 - 1
8-3265724-C-A c.1768G>T p.Ala590Ser Missense 14/70 - 1
8-3265749-T-C c.1745-2A>G - IntronicSNV - 13/69 1
8-3267040-G-A c.1649C>T p.Thr550Ile Missense 13/70 - 1
8-3267047-T-C c.1642A>G p.Thr548Ala Missense 13/70 - 1
8-3267055-T-A c.1634A>T p.His545Leu Missense 13/70 - 1
8-3267083-C-G c.1606G>C p.Gly536Arg Missense 13/70 - 1
8-3267083-C-T c.1606G>A p.Gly536Arg Missense 13/70 - 1
8-3267743-T-C c.1562-616A>G - IntronicSNV - 12/69 1
8-3276617-G-C c.1562-9490C>G - IntronicSNV - 12/69 1
8-3276617-G-T c.1562-9490C>A - IntronicSNV - 12/69 1
8-3283347-T-A c.1562-16220A>T - IntronicSNV - 12/69 1
8-3283347-T-C c.1562-16220A>G - IntronicSNV - 12/69 1
8-3283347-T-G c.1562-16220A>C - IntronicSNV - 12/69 1
8-3284183-T-A c.1562-17056A>T - IntronicSNV - 12/69 1
8-3284183-T-G c.1562-17056A>C - IntronicSNV - 12/69 1
8-3285570-G-A c.1562-18443C>T - IntronicSNV - 12/69 1
8-3285570-G-C c.1562-18443C>G - IntronicSNV - 12/69 1
8-3289450-T-C c.1562-22323A>G - IntronicSNV - 12/69 1
8-3290516-C-A c.1562-23389G>T - IntronicSNV - 12/69 1
8-3290516-C-G c.1562-23389G>C - IntronicSNV - 12/69 1
8-3290849-C-G c.1562-23722G>C - IntronicSNV - 12/69 1
8-3290849-C-T c.1562-23722G>A - IntronicSNV - 12/69 1
8-3295628-A-G c.1562-28501T>C - IntronicSNV - 12/69 1
8-3300163-C-G c.1561+26071G>C - IntronicSNV - 12/69 1
8-3300163-C-T c.1561+26071G>A - IntronicSNV - 12/69 1
8-3305842-G-A c.1561+20392C>T - IntronicSNV - 12/69 1
8-3316392-T-G c.1561+9842A>C - IntronicSNV - 12/69 1
8-3316986-G-A c.1561+9248C>T - IntronicSNV - 12/69 1
8-3317672-C-T c.1561+8562G>A - IntronicSNV - 12/69 1
8-3319331-C-T c.1561+6903G>A - IntronicSNV - 12/69 1
8-3328265-T-C c.1449-1919A>G - IntronicSNV - 11/69 2
8-3328316-G-C c.1449-1970C>G - IntronicSNV - 11/69 2
8-3328316-G-T c.1449-1970C>A - IntronicSNV - 11/69 2
8-3329509-A-G c.1449-3163T>C - IntronicSNV - 11/69 2
8-3329606-G-A c.1449-3260C>T - IntronicSNV - 11/69 2
8-3329606-G-T c.1449-3260C>A - IntronicSNV - 11/69 2
8-3329848-G-A c.1449-3502C>T - IntronicSNV - 11/69 2
8-3329848-G-C c.1449-3502C>G - IntronicSNV - 11/69 2
8-3329848-G-T c.1449-3502C>A - IntronicSNV - 11/69 2
8-3330914-G-A c.1449-4568C>T - IntronicSNV - 11/69 2
8-3330914-G-C c.1449-4568C>G - IntronicSNV - 11/69 2
8-3339898-T-G c.1448+11247A>C - IntronicSNV - 11/69 1
8-3341157-G-A c.1448+9988C>T - IntronicSNV - 11/69 1
8-3342625-C-T c.1448+8520G>A - IntronicSNV - 11/69 1
8-3342790-T-C c.1448+8355A>G - IntronicSNV - 11/69 1
8-3346335-A-C c.1448+4810T>G - IntronicSNV - 11/69 1
8-3346335-A-T c.1448+4810T>A - IntronicSNV - 11/69 1
8-3346401-A-T c.1448+4744T>A - IntronicSNV - 11/69 1
8-3348853-A-C c.1448+2292T>G - IntronicSNV - 11/69 1
8-3348853-A-G c.1448+2292T>C - IntronicSNV - 11/69 1
8-3350073-T-A c.1448+1072A>T - IntronicSNV - 11/69 1
8-3351246-G-A c.1347C>T p.Val449Val Synonymous 11/70 - 1
8-3351246-G-C c.1347C>G p.Val449Val Synonymous 11/70 - 1
8-3353059-G-A c.1345-1811C>T - IntronicSNV - 10/69 1
8-3354811-A-G c.1345-3563T>C - IntronicSNV - 10/69 1
8-3354811-A-T c.1345-3563T>A - IntronicSNV - 10/69 1
8-3356245-G-A c.1345-4997C>T - IntronicSNV - 10/69 1
8-3360967-G-A c.1345-9719C>T - IntronicSNV - 10/69 2
8-3360967-G-C c.1345-9719C>G - IntronicSNV - 10/69 2
8-3372149-G-C c.1345-20901C>G - IntronicSNV - 10/69 1
8-3379040-T-G c.1345-27792A>C - IntronicSNV - 10/69 1
8-3384566-G-C c.1345-33318C>G - IntronicSNV - 10/69 1
8-3385757-G-A c.1345-34509C>T - IntronicSNV - 10/69 1
8-3385757-G-C c.1345-34509C>G - IntronicSNV - 10/69 1
8-3390607-C-T c.1345-39359G>A - IntronicSNV - 10/69 1
8-3393482-A-G c.1344+38985T>C - IntronicSNV - 10/69 1
8-3393482-A-T c.1344+38985T>A - IntronicSNV - 10/69 1
8-3399619-T-C c.1344+32848A>G - IntronicSNV - 10/69 1
8-3403390-T-C c.1344+29077A>G - IntronicSNV - 10/69 1
8-3408296-C-T c.1344+24171G>A - IntronicSNV - 10/69 1
8-3409744-A-G c.1344+22723T>C - IntronicSNV - 10/69 1
8-3416852-T-A c.1344+15615A>T - IntronicSNV - 10/69 1
8-3416852-T-C c.1344+15615A>G - IntronicSNV - 10/69 1
8-3417189-C-G c.1344+15278G>C - IntronicSNV - 10/69 1
8-3418220-G-A c.1344+14247C>T - IntronicSNV - 10/69 1
8-3418220-G-C c.1344+14247C>G - IntronicSNV - 10/69 1
8-3418220-G-T c.1344+14247C>A - IntronicSNV - 10/69 1
8-3421598-T-C c.1344+10869A>G - IntronicSNV - 10/69 1
8-3423091-G-A c.1344+9376C>T - IntronicSNV - 10/69 1
8-3427533-A-C c.1344+4934T>G - IntronicSNV - 10/69 3
8-3427533-A-G c.1344+4934T>C - IntronicSNV - 10/69 3
8-3427849-C-T c.1344+4618G>A - IntronicSNV - 10/69 1
8-3432054-C-G c.1344+413G>C - IntronicSNV - 10/69 1
8-3432054-C-T c.1344+413G>A - IntronicSNV - 10/69 1
8-3432860-A-G c.1223-272T>C - IntronicSNV - 9/69 1
8-3442450-T-A c.1222+1208A>T - IntronicSNV - 9/69 1
8-3442450-T-C c.1222+1208A>G - IntronicSNV - 9/69 1
8-3443810-A-AA c.1098-18dup - IntronicInsertion - 8/69 1
8-3443810-AA-A c.1098-18del - IntronicDeletion - 8/69 1
8-3451057-G-A c.1098-7275C>T - IntronicSNV - 8/69 1
8-3451057-G-C c.1098-7275C>G - IntronicSNV - 8/69 1
8-3452058-T-C c.1098-8276A>G - IntronicSNV - 8/69 1
8-3452887-C-T c.1098-9105G>A - IntronicSNV - 8/69 1
8-3458447-T-A c.1098-14665A>T - IntronicSNV - 8/69 1
8-3458447-T-C c.1098-14665A>G - IntronicSNV - 8/69 1
8-3459198-T-C c.1097+15034A>G - IntronicSNV - 8/69 1
8-3460063-T-C c.1097+14169A>G - IntronicSNV - 8/69 1
8-3465842-A-C c.1097+8390T>G - IntronicSNV - 8/69 1
8-3465842-A-G c.1097+8390T>C - IntronicSNV - 8/69 1
8-3466917-G-T c.1097+7315C>A - IntronicSNV - 8/69 1
8-3474292-G-C c.1037C>G p.Ser346Cys Missense 8/70 - 1
8-3474295-A-C c.1034T>G p.Val345Gly Missense 8/70 - 1
8-3474635-C-A c.1010-316G>T - IntronicSNV - 7/69 1
8-3474635-C-G c.1010-316G>C - IntronicSNV - 7/69 1
8-3475947-C-A c.1010-1628G>T - IntronicSNV - 7/69 1
8-3475947-C-G c.1010-1628G>C - IntronicSNV - 7/69 1
8-3475947-C-T c.1010-1628G>A - IntronicSNV - 7/69 1
8-3479419-T-C c.1010-5100A>G - IntronicSNV - 7/69 1
8-3481618-T-C c.1010-7299A>G - IntronicSNV - 7/69 1
8-3481618-T-G c.1010-7299A>C - IntronicSNV - 7/69 1
8-3481755-C-G c.1010-7436G>C - IntronicSNV - 7/69 1
8-3483411-T-C c.1010-9092A>G - IntronicSNV - 7/69 2
8-3486209-A-C c.1010-11890T>G - IntronicSNV - 7/69 1
8-3488302-G-A c.1010-13983C>T - IntronicSNV - 7/69 1
8-3488338-A-C c.1010-14019T>G - IntronicSNV - 7/69 2
8-3488338-A-G c.1010-14019T>C - IntronicSNV - 7/69 2
8-3488338-A-T c.1010-14019T>A - IntronicSNV - 7/69 2
8-3492431-C-T c.1010-18112G>A - IntronicSNV - 7/69 1
8-3494151-T-C c.1010-19832A>G - IntronicSNV - 7/69 1
8-3494826-T-C c.1010-20507A>G - IntronicSNV - 7/69 1
8-3499748-T-A c.1010-25429A>T - IntronicSNV - 7/69 1
8-3499748-T-C c.1010-25429A>G - IntronicSNV - 7/69 1
8-3499748-T-G c.1010-25429A>C - IntronicSNV - 7/69 1
8-3502637-G-A c.1010-28318C>T - IntronicSNV - 7/69 1
8-3502637-G-C c.1010-28318C>G - IntronicSNV - 7/69 1
8-3502719-A-G c.1010-28400T>C - IntronicSNV - 7/69 1
8-3503009-G-A c.1010-28690C>T - IntronicSNV - 7/69 1
8-3503182-T-C c.1010-28863A>G - IntronicSNV - 7/69 1
8-3505924-C-A c.1010-31605G>T - IntronicSNV - 7/69 1
8-3505924-C-G c.1010-31605G>C - IntronicSNV - 7/69 1
8-3506725-A-G c.1010-32406T>C - IntronicSNV - 7/69 2
8-3508444-C-T c.1010-34125G>A - IntronicSNV - 7/69 1
8-3508977-A-G c.1010-34658T>C - IntronicSNV - 7/69 1
8-3513337-T-A c.1010-39018A>T - IntronicSNV - 7/69 1
8-3513337-T-C c.1010-39018A>G - IntronicSNV - 7/69 1
8-3515312-A-C c.1010-40993T>G - IntronicSNV - 7/69 1
8-3515940-T-C c.1010-41621A>G - IntronicSNV - 7/69 1
8-3518993-C-A c.1010-44674G>T - IntronicSNV - 7/69 3
8-3518993-C-G c.1010-44674G>C - IntronicSNV - 7/69 3
8-3518993-C-T c.1010-44674G>A - IntronicSNV - 7/69 3
8-3519420-G-A c.1010-45101C>T - IntronicSNV - 7/69 1
8-3520763-G-A c.1009+45173C>T - IntronicSNV - 7/69 1
8-3520763-G-C c.1009+45173C>G - IntronicSNV - 7/69 1
8-3520871-T-C c.1009+45065A>G - IntronicSNV - 7/69 1
8-3525667-A-C c.1009+40269T>G - IntronicSNV - 7/69 1
8-3525815-G-C c.1009+40121C>G - IntronicSNV - 7/69 1
8-3525815-G-T c.1009+40121C>A - IntronicSNV - 7/69 1
8-3527820-C-A c.1009+38116G>T - IntronicSNV - 7/69 1
8-3530700-G-A c.1009+35236C>T - IntronicSNV - 7/69 1
8-3530700-G-C c.1009+35236C>G - IntronicSNV - 7/69 1
8-3530700-G-T c.1009+35236C>A - IntronicSNV - 7/69 1
8-3532499-G-A c.1009+33437C>T - IntronicSNV - 7/69 2
8-3532499-G-C c.1009+33437C>G - IntronicSNV - 7/69 2
8-3532499-G-T c.1009+33437C>A - IntronicSNV - 7/69 2
8-3536658-C-A c.1009+29278G>T - IntronicSNV - 7/69 1
8-3540889-C-A c.1009+25047G>T - IntronicSNV - 7/69 1
8-3540889-C-T c.1009+25047G>A - IntronicSNV - 7/69 1
8-3543663-G-C c.1009+22273C>G - IntronicSNV - 7/69 1
8-3544536-G-C c.1009+21400C>G - IntronicSNV - 7/69 1
8-3545142-T-G c.1009+20794A>C - IntronicSNV - 7/69 1
8-3555522-A-C c.1009+10414T>G - IntronicSNV - 7/69 1
8-3555522-A-T c.1009+10414T>A - IntronicSNV - 7/69 1
8-3555657-G-T c.1009+10279C>A - IntronicSNV - 7/69 1
8-3560723-C-T c.1009+5213G>A - IntronicSNV - 7/69 1
8-3564181-A-C c.1009+1755T>G - IntronicSNV - 7/69 2
8-3564181-A-T c.1009+1755T>A - IntronicSNV - 7/69 2
8-3564197-C-A c.1009+1739G>T - IntronicSNV - 7/69 2
8-3568201-G-A c.932-2188C>T - IntronicSNV - 6/69 1
8-3568201-G-T c.932-2188C>A - IntronicSNV - 6/69 1
8-3580082-G-A c.932-14069C>T - IntronicSNV - 6/69 1
8-3580082-G-C c.932-14069C>G - IntronicSNV - 6/69 1
8-3580144-T-G c.932-14131A>C - IntronicSNV - 6/69 1
8-3581929-G-A c.932-15916C>T - IntronicSNV - 6/69 2
8-3582873-G-T c.932-16860C>A - IntronicSNV - 6/69 1
8-3583092-C-G c.932-17079G>C - IntronicSNV - 6/69 1
8-3583092-C-T c.932-17079G>A - IntronicSNV - 6/69 1
8-3584177-A-C c.932-18164T>G - IntronicSNV - 6/69 1
8-3584177-A-G c.932-18164T>C - IntronicSNV - 6/69 1
8-3584177-A-T c.932-18164T>A - IntronicSNV - 6/69 1
8-3584423-A-G c.932-18410T>C - IntronicSNV - 6/69 1
8-3585282-T-C c.932-19269A>G - IntronicSNV - 6/69 1
8-3586010-A-C c.932-19997T>G - IntronicSNV - 6/69 1
8-3586010-A-G c.932-19997T>C - IntronicSNV - 6/69 1
8-3586477-C-A c.932-20464G>T - IntronicSNV - 6/69 1
8-3586477-C-T c.932-20464G>A - IntronicSNV - 6/69 1
8-3589016-T-C c.931+22436A>G - IntronicSNV - 6/69 1
8-3589751-C-T c.931+21701G>A - IntronicSNV - 6/69 1
8-3590092-T-A c.931+21360A>T - IntronicSNV - 6/69 1
8-3590092-T-C c.931+21360A>G - IntronicSNV - 6/69 1
8-3590092-T-G c.931+21360A>C - IntronicSNV - 6/69 1
8-3594906-T-C c.931+16546A>G - IntronicSNV - 6/69 3
8-3595317-C-A c.931+16135G>T - IntronicSNV - 6/69 1
8-3596139-C-G c.931+15313G>C - IntronicSNV - 6/69 1
8-3604955-G-C c.931+6497C>G - IntronicSNV - 6/69 1
8-3604955-G-T c.931+6497C>A - IntronicSNV - 6/69 1
8-3606585-A-G c.931+4867T>C - IntronicSNV - 6/69 2
8-3610483-T-A c.931+969A>T - IntronicSNV - 6/69 1
8-3611554-T-C c.829A>G p.Met277Val Missense 6/70 - 1
8-3611709-C-G c.819-145G>C - IntronicSNV - 5/69 1
8-3611709-C-T c.819-145G>A - IntronicSNV - 5/69 1
8-3616875-T-A c.819-5311A>T - IntronicSNV - 5/69 1
8-3616875-T-C c.819-5311A>G - IntronicSNV - 5/69 1
8-3618869-G-A c.819-7305C>T - IntronicSNV - 5/69 1
8-3618869-G-C c.819-7305C>G - IntronicSNV - 5/69 1
8-3619752-G-A c.819-8188C>T - IntronicSNV - 5/69 1
8-3619752-G-C c.819-8188C>G - IntronicSNV - 5/69 1
8-3619752-G-T c.819-8188C>A - IntronicSNV - 5/69 1
8-3623014-C-A c.819-11450G>T - IntronicSNV - 5/69 1
8-3624046-C-T c.819-12482G>A - IntronicSNV - 5/69 1
8-3636066-G-C c.819-24502C>G - IntronicSNV - 5/69 1
8-3636066-G-T c.819-24502C>A - IntronicSNV - 5/69 1
8-3636817-T-C c.819-25253A>G - IntronicSNV - 5/69 1
8-3642919-T-C c.819-31355A>G - IntronicSNV - 5/69 1
8-3643255-C-T c.819-31691G>A - IntronicSNV - 5/69 1
8-3643559-C-A c.819-31995G>T - IntronicSNV - 5/69 1
8-3643559-C-T c.819-31995G>A - IntronicSNV - 5/69 1
8-3673819-T-C c.819-62255A>G - IntronicSNV - 5/69 1
8-3674445-A-G c.819-62881T>C - IntronicSNV - 5/69 1
8-3675634-G-A c.819-64070C>T - IntronicSNV - 5/69 1
8-3675634-G-C c.819-64070C>G - IntronicSNV - 5/69 1
8-3677987-T-A c.819-66423A>T - IntronicSNV - 5/69 2
8-3677987-T-C c.819-66423A>G - IntronicSNV - 5/69 2
8-3677987-T-G c.819-66423A>C - IntronicSNV - 5/69 2
8-3679446-C-T c.819-67882G>A - IntronicSNV - 5/69 9
8-3682023-A-G c.819-70459T>C - IntronicSNV - 5/69 1
8-3682023-A-T c.819-70459T>A - IntronicSNV - 5/69 1
8-3684199-C-T c.819-72635G>A - IntronicSNV - 5/69 6
8-3688710-G-C c.819-77146C>G - IntronicSNV - 5/69 1
8-3688797-G-A c.819-77233C>T - IntronicSNV - 5/69 1
8-3688797-G-C c.819-77233C>G - IntronicSNV - 5/69 1
8-3704947-G-A c.819-93383C>T - IntronicSNV - 5/69 1
8-3705807-C-T c.819-94243G>A - IntronicSNV - 5/69 4
8-3709660-T-C c.819-98096A>G - IntronicSNV - 5/69 2
8-3709660-T-G c.819-98096A>C - IntronicSNV - 5/69 2
8-3711034-A-C c.819-99470T>G - IntronicSNV - 5/69 1
8-3711034-A-G c.819-99470T>C - IntronicSNV - 5/69 1
8-3717468-A-C c.819-105904T>G - IntronicSNV - 5/69 1
8-3717468-A-G c.819-105904T>C - IntronicSNV - 5/69 1
8-3723500-G-A c.819-111936C>T - IntronicSNV - 5/69 1
8-3723500-G-C c.819-111936C>G - IntronicSNV - 5/69 1
8-3723500-G-T c.819-111936C>A - IntronicSNV - 5/69 1
8-3734727-G-C c.818+120698C>G - IntronicSNV - 5/69 1
8-3734727-G-T c.818+120698C>A - IntronicSNV - 5/69 1
8-3736282-G-C c.818+119143C>G - IntronicSNV - 5/69 1
8-3738105-T-C c.818+117320A>G - IntronicSNV - 5/69 1
8-3738105-T-G c.818+117320A>C - IntronicSNV - 5/69 1
8-3739619-T-C c.818+115806A>G - IntronicSNV - 5/69 2
8-3743704-T-C c.818+111721A>G - IntronicSNV - 5/69 2
8-3743704-T-G c.818+111721A>C - IntronicSNV - 5/69 2
8-3757558-G-A c.818+97867C>T - IntronicSNV - 5/69 1
8-3757797-G-A c.818+97628C>T - IntronicSNV - 5/69 1
8-3757797-G-T c.818+97628C>A - IntronicSNV - 5/69 1
8-3763463-C-T c.818+91962G>A - IntronicSNV - 5/69 1
8-3764988-G-A c.818+90437C>T - IntronicSNV - 5/69 1
8-3764988-G-C c.818+90437C>G - IntronicSNV - 5/69 1
8-3764988-G-T c.818+90437C>A - IntronicSNV - 5/69 1
8-3766337-G-A c.818+89088C>T - IntronicSNV - 5/69 1
8-3767210-T-C c.818+88215A>G - IntronicSNV - 5/69 9
8-3767623-C-A c.818+87802G>T - IntronicSNV - 5/69 4
8-3767623-C-T c.818+87802G>A - IntronicSNV - 5/69 4
8-3769690-C-G c.818+85735G>C - IntronicSNV - 5/69 1
8-3769690-C-T c.818+85735G>A - IntronicSNV - 5/69 1
8-3769902-T-A c.818+85523A>T - IntronicSNV - 5/69 1
8-3769902-T-C c.818+85523A>G - IntronicSNV - 5/69 1
8-3775815-G-A c.818+79610C>T - IntronicSNV - 5/69 1
8-3775815-G-T c.818+79610C>A - IntronicSNV - 5/69 1
8-3775951-T-C c.818+79474A>G - IntronicSNV - 5/69 1
8-3775951-T-G c.818+79474A>C - IntronicSNV - 5/69 1
8-3778212-G-C c.818+77213C>G - IntronicSNV - 5/69 1
8-3778212-G-T c.818+77213C>A - IntronicSNV - 5/69 1
8-3779090-C-G c.818+76335G>C - IntronicSNV - 5/69 1
8-3779090-C-T c.818+76335G>A - IntronicSNV - 5/69 1
8-3781893-T-C c.818+73532A>G - IntronicSNV - 5/69 1
8-3783289-T-C c.818+72136A>G - IntronicSNV - 5/69 1
8-3783289-T-G c.818+72136A>C - IntronicSNV - 5/69 1
8-3783919-C-G c.818+71506G>C - IntronicSNV - 5/69 1
8-3783919-C-T c.818+71506G>A - IntronicSNV - 5/69 1
8-3786248-G-A c.818+69177C>T - IntronicSNV - 5/69 1
8-3787060-C-G c.818+68365G>C - IntronicSNV - 5/69 1
8-3787168-A-G c.818+68257T>C - IntronicSNV - 5/69 1
8-3787168-A-T c.818+68257T>A - IntronicSNV - 5/69 1
8-3787730-A-G c.818+67695T>C - IntronicSNV - 5/69 1
8-3788431-A-C c.818+66994T>G - IntronicSNV - 5/69 1
8-3788431-A-T c.818+66994T>A - IntronicSNV - 5/69 1
8-3788599-G-A c.818+66826C>T - IntronicSNV - 5/69 1
8-3788599-G-C c.818+66826C>G - IntronicSNV - 5/69 1
8-3788599-G-T c.818+66826C>A - IntronicSNV - 5/69 1
8-3789921-T-C c.818+65504A>G - IntronicSNV - 5/69 2
8-3791218-G-C c.818+64207C>G - IntronicSNV - 5/69 1
8-3793600-C-T c.818+61825G>A - IntronicSNV - 5/69 1
8-3795532-C-A c.818+59893G>T - IntronicSNV - 5/69 1
8-3800808-G-A c.818+54617C>T - IntronicSNV - 5/69 1
8-3800808-G-C c.818+54617C>G - IntronicSNV - 5/69 1
8-3804109-C-G c.818+51316G>C - IntronicSNV - 5/69 1
8-3807667-C-T c.818+47758G>A - IntronicSNV - 5/69 1
8-3808039-G-A c.818+47386C>T - IntronicSNV - 5/69 1
8-3809504-T-A c.818+45921A>T - IntronicSNV - 5/69 1
8-3811812-G-A c.818+43613C>T - IntronicSNV - 5/69 1
8-3811812-G-C c.818+43613C>G - IntronicSNV - 5/69 1
8-3816368-G-C c.818+39057C>G - IntronicSNV - 5/69 1
8-3819578-G-A c.818+35847C>T - IntronicSNV - 5/69 1
8-3819578-G-T c.818+35847C>A - IntronicSNV - 5/69 1
8-3825199-G-A c.818+30226C>T - IntronicSNV - 5/69 1
8-3825199-G-C c.818+30226C>G - IntronicSNV - 5/69 1
8-3828138-C-G c.818+27287G>C - IntronicSNV - 5/69 8
8-3828138-C-T c.818+27287G>A - IntronicSNV - 5/69 8
8-3832080-T-A c.818+23345A>T - IntronicSNV - 5/69 1
8-3832080-T-G c.818+23345A>C - IntronicSNV - 5/69 1
8-3833181-C-T c.818+22244G>A - IntronicSNV - 5/69 2
8-3835213-C-A c.818+20212G>T - IntronicSNV - 5/69 1
8-3840617-C-A c.818+14808G>T - IntronicSNV - 5/69 1
8-3840617-C-G c.818+14808G>C - IntronicSNV - 5/69 1
8-3849139-C-G c.818+6286G>C - IntronicSNV - 5/69 1
8-3854382-G-A c.818+1043C>T - IntronicSNV - 5/69 1
8-3855505-A-C c.738T>G p.Ile246Met Missense 5/70 - 1
8-3855540-T-G c.703A>C p.Thr235Pro Missense 5/70 - 1
8-3855618-C-G c.625G>C p.Gly209Arg Missense 5/70 - 1
8-3855618-C-T c.625G>A p.Gly209Arg Missense 5/70 - 1
8-3856183-A-G c.611-551T>C - IntronicSNV - 4/69 1
8-3863111-T-C c.611-7479A>G - IntronicSNV - 4/69 2
8-3863111-T-G c.611-7479A>C - IntronicSNV - 4/69 2
8-3870616-G-A c.611-14984C>T - IntronicSNV - 4/69 1
8-3870616-G-C c.611-14984C>G - IntronicSNV - 4/69 1
8-3871527-C-T c.611-15895G>A - IntronicSNV - 4/69 1
8-3872513-T-C c.611-16881A>G - IntronicSNV - 4/69 1
8-3872513-T-G c.611-16881A>C - IntronicSNV - 4/69 1
8-3874001-G-A c.610+15426C>T - IntronicSNV - 4/69 1
8-3874521-A-C c.610+14906T>G - IntronicSNV - 4/69 1
8-3874521-A-T c.610+14906T>A - IntronicSNV - 4/69 1
8-3879543-A-C c.610+9884T>G - IntronicSNV - 4/69 1
8-3879543-A-G c.610+9884T>C - IntronicSNV - 4/69 1
8-3879918-A-C c.610+9509T>G - IntronicSNV - 4/69 1
8-3879918-A-G c.610+9509T>C - IntronicSNV - 4/69 1
8-3879918-A-T c.610+9509T>A - IntronicSNV - 4/69 1
8-3889468-C-T c.569G>A p.Gly190Glu Missense 4/70 - 1
8-3889478-C-T c.559G>A p.Val187Ile Missense 4/70 - 1
8-3889535-G-A c.502C>T p.Arg168Trp Missense 4/70 - 1
8-3889557-TCT-CAT c.479_480delinsTG p.Arg160Met Missense 4/70 - 1
8-3889560-C-A c.477G>T p.Thr159Thr Synonymous 4/70 - 1
8-3889560-C-G c.477G>C p.Thr159Thr Synonymous 4/70 - 1
8-3889560-C-T c.477G>A p.Thr159Thr Synonymous 4/70 - 1
8-3897678-A-T c.416-8057T>A - IntronicSNV - 3/69 1
8-3898329-T-C c.416-8708A>G - IntronicSNV - 3/69 3
8-3898329-T-G c.416-8708A>C - IntronicSNV - 3/69 3
8-3898433-A-G c.416-8812T>C - IntronicSNV - 3/69 2
8-3900812-A-C c.416-11191T>G - IntronicSNV - 3/69 1
8-3900812-A-G c.416-11191T>C - IntronicSNV - 3/69 1
8-3902502-A-T c.416-12881T>A - IntronicSNV - 3/69 1
8-3902830-G-A c.416-13209C>T - IntronicSNV - 3/69 1
8-3902830-G-T c.416-13209C>A - IntronicSNV - 3/69 1
8-3904088-C-A c.416-14467G>T - IntronicSNV - 3/69 1
8-3905677-C-T c.416-16056G>A - IntronicSNV - 3/69 1
8-3909744-C-A c.416-20123G>T - IntronicSNV - 3/69 1
8-3909744-C-G c.416-20123G>C - IntronicSNV - 3/69 1
8-3909744-C-T c.416-20123G>A - IntronicSNV - 3/69 1
8-3912399-C-T c.416-22778G>A - IntronicSNV - 3/69 1
8-3919413-C-G c.416-29792G>C - IntronicSNV - 3/69 1
8-3921821-A-C c.416-32200T>G - IntronicSNV - 3/69 1
8-3937595-A-G c.416-47974T>C - IntronicSNV - 3/69 1
8-3938481-T-C c.416-48860A>G - IntronicSNV - 3/69 1
8-3940481-G-A c.416-50860C>T - IntronicSNV - 3/69 2
8-3943127-G-C c.416-53506C>G - IntronicSNV - 3/69 1
8-3944082-G-A c.416-54461C>T - IntronicSNV - 3/69 1
8-3944082-G-C c.416-54461C>G - IntronicSNV - 3/69 1
8-3947058-T-C c.416-57437A>G - IntronicSNV - 3/69 1
8-3947325-T-C c.416-57704A>G - IntronicSNV - 3/69 2
8-3947325-T-G c.416-57704A>C - IntronicSNV - 3/69 2
8-3952096-G-C c.416-62475C>G - IntronicSNV - 3/69 1
8-3952623-A-C c.416-63002T>G - IntronicSNV - 3/69 1
8-3952623-A-T c.416-63002T>A - IntronicSNV - 3/69 1
8-3952966-C-G c.416-63345G>C - IntronicSNV - 3/69 1
8-3952966-C-T c.416-63345G>A - IntronicSNV - 3/69 1
8-3957962-T-A c.416-68341A>T - IntronicSNV - 3/69 1
8-3961865-G-A c.416-72244C>T - IntronicSNV - 3/69 1
8-3961865-G-T c.416-72244C>A - IntronicSNV - 3/69 1
8-3963910-T-C c.416-74289A>G - IntronicSNV - 3/69 1
8-3963910-T-G c.416-74289A>C - IntronicSNV - 3/69 1
8-3964022-T-A c.416-74401A>T - IntronicSNV - 3/69 1
8-3964022-T-C c.416-74401A>G - IntronicSNV - 3/69 1
8-3964022-T-G c.416-74401A>C - IntronicSNV - 3/69 1
8-3964539-T-C c.416-74918A>G - IntronicSNV - 3/69 1
8-3965925-T-C c.416-76304A>G - IntronicSNV - 3/69 1
8-3970138-C-G c.416-80517G>C - IntronicSNV - 3/69 1
8-3974430-G-C c.416-84809C>G - IntronicSNV - 3/69 1
8-3974430-G-T c.416-84809C>A - IntronicSNV - 3/69 1
8-3978130-A-T c.416-88509T>A - IntronicSNV - 3/69 2
8-3978983-C-T c.416-89362G>A - IntronicSNV - 3/69 1
8-3980317-A-G c.416-90696T>C - IntronicSNV - 3/69 1
8-3980978-T-C c.416-91357A>G - IntronicSNV - 3/69 3
8-3984156-C-G c.416-94535G>C - IntronicSNV - 3/69 1
8-3985072-G-C c.416-95451C>G - IntronicSNV - 3/69 1
8-3985072-G-T c.416-95451C>A - IntronicSNV - 3/69 1
8-3986246-G-T c.416-96625C>A - IntronicSNV - 3/69 1
8-3994753-A-G c.416-105132T>C - IntronicSNV - 3/69 1
8-3996780-T-C c.416-107159A>G - IntronicSNV - 3/69 1
8-4002758-T-A c.416-113137A>T - IntronicSNV - 3/69 1
8-4002758-T-C c.416-113137A>G - IntronicSNV - 3/69 1
8-4003841-C-T c.416-114220G>A - IntronicSNV - 3/69 1
8-4005832-T-A c.416-116211A>T - IntronicSNV - 3/69 1
8-4005832-T-C c.416-116211A>G - IntronicSNV - 3/69 1
8-4005832-T-G c.416-116211A>C - IntronicSNV - 3/69 1
8-4007211-A-C c.416-117590T>G - IntronicSNV - 3/69 2
8-4008816-T-G c.416-119195A>C - IntronicSNV - 3/69 1
8-4011688-T-C c.416-122067A>G - IntronicSNV - 3/69 1
8-4011688-T-G c.416-122067A>C - IntronicSNV - 3/69 1
8-4012166-G-A c.416-122545C>T - IntronicSNV - 3/69 1
8-4013272-T-A c.416-123651A>T - IntronicSNV - 3/69 1
8-4013928-A-C c.416-124307T>G - IntronicSNV - 3/69 1
8-4013928-A-G c.416-124307T>C - IntronicSNV - 3/69 1
8-4014336-G-A c.416-124715C>T - IntronicSNV - 3/69 1
8-4014579-C-A c.416-124958G>T - IntronicSNV - 3/69 1
8-4014579-C-G c.416-124958G>C - IntronicSNV - 3/69 1
8-4017692-C-T c.416-128071G>A - IntronicSNV - 3/69 1
8-4018133-G-A c.416-128512C>T - IntronicSNV - 3/69 1
8-4018133-G-T c.416-128512C>A - IntronicSNV - 3/69 1
8-4018901-G-C c.416-129280C>G - IntronicSNV - 3/69 2
8-4018901-G-T c.416-129280C>A - IntronicSNV - 3/69 2
8-4019462-A-C c.416-129841T>G - IntronicSNV - 3/69 1
8-4022811-G-A c.416-133190C>T - IntronicSNV - 3/69 1
8-4022811-G-C c.416-133190C>G - IntronicSNV - 3/69 1
8-4022811-G-T c.416-133190C>A - IntronicSNV - 3/69 1
8-4025644-C-A c.416-136023G>T - IntronicSNV - 3/69 2
8-4025644-C-G c.416-136023G>C - IntronicSNV - 3/69 2
8-4026979-C-A c.416-137358G>T - IntronicSNV - 3/69 1
8-4029513-A-C c.416-139892T>G - IntronicSNV - 3/69 1
8-4032622-T-A c.416-143001A>T - IntronicSNV - 3/69 1
8-4032622-T-G c.416-143001A>C - IntronicSNV - 3/69 1
8-4037697-C-G c.416-148076G>C - IntronicSNV - 3/69 1
8-4037697-C-T c.416-148076G>A - IntronicSNV - 3/69 1
8-4040057-A-G c.416-150436T>C - IntronicSNV - 3/69 1
8-4040057-A-T c.416-150436T>A - IntronicSNV - 3/69 1
8-4040129-T-C c.416-150508A>G - IntronicSNV - 3/69 1
8-4041477-A-C c.416-151856T>G - IntronicSNV - 3/69 1
8-4041477-A-T c.416-151856T>A - IntronicSNV - 3/69 1
8-4041820-A-G c.416-152199T>C - IntronicSNV - 3/69 1
8-4043515-T-C c.416-153894A>G - IntronicSNV - 3/69 2
8-4045300-T-C c.416-155679A>G - IntronicSNV - 3/69 1
8-4045835-C-A c.416-156214G>T - IntronicSNV - 3/69 1
8-4045835-C-T c.416-156214G>A - IntronicSNV - 3/69 1
8-4049011-C-A c.416-159390G>T - IntronicSNV - 3/69 1
8-4049011-C-G c.416-159390G>C - IntronicSNV - 3/69 1
8-4049011-C-T c.416-159390G>A - IntronicSNV - 3/69 1
8-4049410-A-C c.416-159789T>G - IntronicSNV - 3/69 2
8-4049410-A-G c.416-159789T>C - IntronicSNV - 3/69 2
8-4049410-A-T c.416-159789T>A - IntronicSNV - 3/69 2
8-4049513-T-C c.416-159892A>G - IntronicSNV - 3/69 1
8-4061204-T-A c.416-171583A>T - IntronicSNV - 3/69 1
8-4061204-T-C c.416-171583A>G - IntronicSNV - 3/69 1
8-4061204-T-G c.416-171583A>C - IntronicSNV - 3/69 1
8-4078053-T-C c.416-188432A>G - IntronicSNV - 3/69 1
8-4078053-T-G c.416-188432A>C - IntronicSNV - 3/69 1
8-4078353-G-C c.416-188732C>G - IntronicSNV - 3/69 3
8-4078353-G-T c.416-188732C>A - IntronicSNV - 3/69 3
8-4084879-T-C c.415+192596A>G - IntronicSNV - 3/69 2
8-4085763-T-A c.415+191712A>T - IntronicSNV - 3/69 1
8-4085763-T-C c.415+191712A>G - IntronicSNV - 3/69 1
8-4085943-G-A c.415+191532C>T - IntronicSNV - 3/69 1
8-4087405-G-A c.415+190070C>T - IntronicSNV - 3/69 1
8-4087405-G-C c.415+190070C>G - IntronicSNV - 3/69 1
8-4088414-C-A c.415+189061G>T - IntronicSNV - 3/69 1
8-4088414-C-G c.415+189061G>C - IntronicSNV - 3/69 1
8-4088556-A-C c.415+188919T>G - IntronicSNV - 3/69 1
8-4088556-A-G c.415+188919T>C - IntronicSNV - 3/69 1
8-4088818-T-C c.415+188657A>G - IntronicSNV - 3/69 1
8-4088886-A-G c.415+188589T>C - IntronicSNV - 3/69 1
8-4089116-A-G c.415+188359T>C - IntronicSNV - 3/69 1
8-4089116-A-T c.415+188359T>A - IntronicSNV - 3/69 1
8-4089132-A-C c.415+188343T>G - IntronicSNV - 3/69 2
8-4089238-T-A c.415+188237A>T - IntronicSNV - 3/69 1
8-4089238-T-G c.415+188237A>C - IntronicSNV - 3/69 1
8-4089422-A-C c.415+188053T>G - IntronicSNV - 3/69 1
8-4089422-A-T c.415+188053T>A - IntronicSNV - 3/69 1
8-4090648-A-G c.415+186827T>C - IntronicSNV - 3/69 1
8-4092133-T-C c.415+185342A>G - IntronicSNV - 3/69 2
8-4097418-A-G c.415+180057T>C - IntronicSNV - 3/69 1
8-4099817-A-C c.415+177658T>G - IntronicSNV - 3/69 1
8-4099817-A-G c.415+177658T>C - IntronicSNV - 3/69 1
8-4102424-A-G c.415+175051T>C - IntronicSNV - 3/69 2
8-4103130-G-A c.415+174345C>T - IntronicSNV - 3/69 3
8-4105147-G-A c.415+172328C>T - IntronicSNV - 3/69 2
8-4110032-T-C c.415+167443A>G - IntronicSNV - 3/69 1
8-4119076-C-A c.415+158399G>T - IntronicSNV - 3/69 1
8-4120070-T-C c.415+157405A>G - IntronicSNV - 3/69 2
8-4120070-T-G c.415+157405A>C - IntronicSNV - 3/69 2
8-4122003-G-A c.415+155472C>T - IntronicSNV - 3/69 1
8-4122003-G-C c.415+155472C>G - IntronicSNV - 3/69 1
8-4134874-C-G c.415+142601G>C - IntronicSNV - 3/69 1
8-4134874-C-T c.415+142601G>A - IntronicSNV - 3/69 1
8-4136571-C-A c.415+140904G>T - IntronicSNV - 3/69 1
8-4136571-C-T c.415+140904G>A - IntronicSNV - 3/69 1
8-4137396-C-T c.415+140079G>A - IntronicSNV - 3/69 1
8-4143049-G-A c.415+134426C>T - IntronicSNV - 3/69 1
8-4143049-G-C c.415+134426C>G - IntronicSNV - 3/69 1
8-4143049-G-T c.415+134426C>A - IntronicSNV - 3/69 1
8-4145210-A-ATTA c.415+132266_415+132267insATA - IntronicInsertion - 3/69 1
8-4145210-A-ATTATTA c.415+132266_415+132267insATAATA - IntronicInsertion - 3/69 1
8-4145210-A-ATTATTATTA c.415+132266_415+132267insATAATAATA - IntronicInsertion - 3/69 1
8-4146236-A-G c.415+131239T>C - IntronicSNV - 3/69 1
8-4146842-C-G c.415+130633G>C - IntronicSNV - 3/69 1
8-4146842-C-T c.415+130633G>A - IntronicSNV - 3/69 1
8-4147169-G-A c.415+130306C>T - IntronicSNV - 3/69 1
8-4147169-G-C c.415+130306C>G - IntronicSNV - 3/69 1
8-4157216-G-A c.415+120259C>T - IntronicSNV - 3/69 1
8-4157216-G-T c.415+120259C>A - IntronicSNV - 3/69 1
8-4162862-G-A c.415+114613C>T - IntronicSNV - 3/69 1
8-4164013-A-T c.415+113462T>A - IntronicSNV - 3/69 3
8-4165460-C-G c.415+112015G>C - IntronicSNV - 3/69 1
8-4165460-C-T c.415+112015G>A - IntronicSNV - 3/69 1
8-4165607-C-A c.415+111868G>T - IntronicSNV - 3/69 1
8-4165607-C-T c.415+111868G>A - IntronicSNV - 3/69 1
8-4167608-T-A c.415+109867A>T - IntronicSNV - 3/69 1
8-4167608-T-C c.415+109867A>G - IntronicSNV - 3/69 1
8-4167608-T-G c.415+109867A>C - IntronicSNV - 3/69 1
8-4168155-G-A c.415+109320C>T - IntronicSNV - 3/69 1
8-4168155-G-C c.415+109320C>G - IntronicSNV - 3/69 1
8-4168964-T-C c.415+108511A>G - IntronicSNV - 3/69 1
8-4168964-T-G c.415+108511A>C - IntronicSNV - 3/69 1
8-4169706-A-C c.415+107769T>G - IntronicSNV - 3/69 1
8-4169706-A-G c.415+107769T>C - IntronicSNV - 3/69 1
8-4169759-G-A c.415+107716C>T - IntronicSNV - 3/69 2
8-4169759-G-C c.415+107716C>G - IntronicSNV - 3/69 2
8-4170126-C-A c.415+107349G>T - IntronicSNV - 3/69 1
8-4170126-C-G c.415+107349G>C - IntronicSNV - 3/69 1
8-4176941-C-T c.415+100534G>A - IntronicSNV - 3/69 1
8-4177791-G-A c.415+99684C>T - IntronicSNV - 3/69 1
8-4178791-G-A c.415+98684C>T - IntronicSNV - 3/69 2
8-4178791-G-C c.415+98684C>G - IntronicSNV - 3/69 2
8-4178791-G-T c.415+98684C>A - IntronicSNV - 3/69 2
8-4180090-T-A c.415+97385A>T - IntronicSNV - 3/69 3
8-4180090-T-G c.415+97385A>C - IntronicSNV - 3/69 3
8-4180844-C-A c.415+96631G>T - IntronicSNV - 3/69 60
8-4183057-A-G c.415+94418T>C - IntronicSNV - 3/69 2
8-4185553-G-A c.415+91922C>T - IntronicSNV - 3/69 1
8-4185553-G-T c.415+91922C>A - IntronicSNV - 3/69 1
8-4185750-T-A c.415+91725A>T - IntronicSNV - 3/69 2
8-4185750-T-C c.415+91725A>G - IntronicSNV - 3/69 2
8-4185750-T-G c.415+91725A>C - IntronicSNV - 3/69 2
8-4188891-G-A c.415+88584C>T - IntronicSNV - 3/69 1
8-4188891-G-C c.415+88584C>G - IntronicSNV - 3/69 1
8-4188891-G-T c.415+88584C>A - IntronicSNV - 3/69 1
8-4190312-T-C c.415+87163A>G - IntronicSNV - 3/69 1
8-4190793-C-A c.415+86682G>T - IntronicSNV - 3/69 14
8-4190793-C-T c.415+86682G>A - IntronicSNV - 3/69 14
8-4196066-A-G c.415+81409T>C - IntronicSNV - 3/69 1
8-4204987-A-C c.415+72488T>G - IntronicSNV - 3/69 1
8-4204987-A-G c.415+72488T>C - IntronicSNV - 3/69 1
8-4207204-C-A c.415+70271G>T - IntronicSNV - 3/69 1
8-4209397-T-C c.415+68078A>G - IntronicSNV - 3/69 1
8-4210140-C-A c.415+67335G>T - IntronicSNV - 3/69 1
8-4210140-C-G c.415+67335G>C - IntronicSNV - 3/69 1
8-4210140-C-T c.415+67335G>A - IntronicSNV - 3/69 1
8-4212932-T-C c.415+64543A>G - IntronicSNV - 3/69 1
8-4213293-A-C c.415+64182T>G - IntronicSNV - 3/69 1
8-4213293-A-G c.415+64182T>C - IntronicSNV - 3/69 1
8-4213293-A-T c.415+64182T>A - IntronicSNV - 3/69 1
8-4214179-A-G c.415+63296T>C - IntronicSNV - 3/69 6
8-4217893-C-T c.415+59582G>A - IntronicSNV - 3/69 1
8-4224136-C-T c.415+53339G>A - IntronicSNV - 3/69 1
8-4225233-C-T c.415+52242G>A - IntronicSNV - 3/69 1
8-4227691-C-T c.415+49784G>A - IntronicSNV - 3/69 1
8-4228083-G-T c.415+49392C>A - IntronicSNV - 3/69 1
8-4231556-A-C c.415+45919T>G - IntronicSNV - 3/69 1
8-4231556-A-G c.415+45919T>C - IntronicSNV - 3/69 1
8-4235897-A-C c.415+41578T>G - IntronicSNV - 3/69 1
8-4236743-T-A c.415+40732A>T - IntronicSNV - 3/69 1
8-4236743-T-C c.415+40732A>G - IntronicSNV - 3/69 1
8-4238139-G-A c.415+39336C>T - IntronicSNV - 3/69 2
8-4238139-G-C c.415+39336C>G - IntronicSNV - 3/69 2
8-4238712-C-T c.415+38763G>A - IntronicSNV - 3/69 1
8-4240216-C-G c.415+37259G>C - IntronicSNV - 3/69 1
8-4249074-G-C c.415+28401C>G - IntronicSNV - 3/69 1
8-4249074-G-T c.415+28401C>A - IntronicSNV - 3/69 1
8-4261356-T-C c.415+16119A>G - IntronicSNV - 3/69 1
8-4270228-T-C c.415+7247A>G - IntronicSNV - 3/69 1
8-4274957-C-T c.415+2518G>A - IntronicSNV - 3/69 1
8-4277505-T-A c.385A>T p.Ser129Cys Missense 3/70 - 1
8-4277567-G-A c.323C>T p.Pro108Leu Missense 3/70 - 1
8-4277582-G-A c.308C>T p.Ser103Leu Missense 3/70 - 1
8-4277990-C-G c.303-403G>C - IntronicSNV - 2/69 2
8-4277990-C-T c.303-403G>A - IntronicSNV - 2/69 2
8-4279582-A-C c.303-1995T>G - IntronicSNV - 2/69 1
8-4279582-A-T c.303-1995T>A - IntronicSNV - 2/69 1
8-4282618-C-A c.303-5031G>T - IntronicSNV - 2/69 2
8-4282618-C-G c.303-5031G>C - IntronicSNV - 2/69 2
8-4282618-C-T c.303-5031G>A - IntronicSNV - 2/69 2
8-4283673-G-A c.303-6086C>T - IntronicSNV - 2/69 1
8-4283673-G-C c.303-6086C>G - IntronicSNV - 2/69 1
8-4284692-G-A c.303-7105C>T - IntronicSNV - 2/69 2
8-4284692-G-T c.303-7105C>A - IntronicSNV - 2/69 2
8-4285390-G-A c.303-7803C>T - IntronicSNV - 2/69 2
8-4285390-G-C c.303-7803C>G - IntronicSNV - 2/69 2
8-4288640-A-G c.303-11053T>C - IntronicSNV - 2/69 1
8-4288640-A-T c.303-11053T>A - IntronicSNV - 2/69 1
8-4295445-A-C c.303-17858T>G - IntronicSNV - 2/69 1
8-4297876-T-C c.303-20289A>G - IntronicSNV - 2/69 1
8-4299883-G-A c.303-22296C>T - IntronicSNV - 2/69 3
8-4299883-G-T c.303-22296C>A - IntronicSNV - 2/69 3
8-4299974-C-A c.303-22387G>T - IntronicSNV - 2/69 1
8-4299974-C-G c.303-22387G>C - IntronicSNV - 2/69 1
8-4299974-C-T c.303-22387G>A - IntronicSNV - 2/69 1
8-4305023-A-G c.303-27436T>C - IntronicSNV - 2/69 1
8-4309952-T-C c.303-32365A>G - IntronicSNV - 2/69 1
8-4317346-G-A c.303-39759C>T - IntronicSNV - 2/69 1
8-4317346-G-C c.303-39759C>G - IntronicSNV - 2/69 1
8-4317346-G-T c.303-39759C>A - IntronicSNV - 2/69 1
8-4321410-G-A c.303-43823C>T - IntronicSNV - 2/69 1
8-4321410-G-C c.303-43823C>G - IntronicSNV - 2/69 1
8-4322657-A-G c.303-45070T>C - IntronicSNV - 2/69 1
8-4339509-T-C c.303-61922A>G - IntronicSNV - 2/69 1
8-4350513-G-A c.303-72926C>T - IntronicSNV - 2/69 1
8-4355343-G-A c.303-77756C>T - IntronicSNV - 2/69 1
8-4358383-C-G c.303-80796G>C - IntronicSNV - 2/69 1
8-4368256-T-C c.303-90669A>G - IntronicSNV - 2/69 1
8-4389179-G-A c.302+105685C>T - IntronicSNV - 2/69 1
8-4389179-G-C c.302+105685C>G - IntronicSNV - 2/69 1
8-4392934-G-A c.302+101930C>T - IntronicSNV - 2/69 2
8-4392934-G-C c.302+101930C>G - IntronicSNV - 2/69 2
8-4392934-G-T c.302+101930C>A - IntronicSNV - 2/69 2
8-4401124-A-G c.302+93740T>C - IntronicSNV - 2/69 1
8-4410514-G-A c.302+84350C>T - IntronicSNV - 2/69 1
8-4410514-G-T c.302+84350C>A - IntronicSNV - 2/69 1
8-4410752-G-C c.302+84112C>G - IntronicSNV - 2/69 1
8-4412051-A-G c.302+82813T>C - IntronicSNV - 2/69 1
8-4412355-C-T c.302+82509G>A - IntronicSNV - 2/69 2
8-4414316-T-C c.302+80548A>G - IntronicSNV - 2/69 1
8-4420188-G-A c.302+74676C>T - IntronicSNV - 2/69 1
8-4420188-G-C c.302+74676C>G - IntronicSNV - 2/69 1
8-4420188-G-T c.302+74676C>A - IntronicSNV - 2/69 1
8-4438058-T-A c.302+56806A>T - IntronicSNV - 2/69 1
8-4438058-T-G c.302+56806A>C - IntronicSNV - 2/69 1
8-4438279-G-T c.302+56585C>A - IntronicSNV - 2/69 1
8-4438543-G-A c.302+56321C>T - IntronicSNV - 2/69 1
8-4441757-G-A c.302+53107C>T - IntronicSNV - 2/69 1
8-4441780-G-C c.302+53084C>G - IntronicSNV - 2/69 1
8-4444592-T-C c.302+50272A>G - IntronicSNV - 2/69 1
8-4445174-A-C c.302+49690T>G - IntronicSNV - 2/69 1
8-4445174-A-G c.302+49690T>C - IntronicSNV - 2/69 1
8-4445174-A-T c.302+49690T>A - IntronicSNV - 2/69 1
8-4449086-G-T c.302+45778C>A - IntronicSNV - 2/69 1
8-4456167-A-G c.302+38697T>C - IntronicSNV - 2/69 1
8-4458212-G-A c.302+36652C>T - IntronicSNV - 2/69 2
8-4462599-T-C c.302+32265A>G - IntronicSNV - 2/69 1
8-4464209-A-C c.302+30655T>G - IntronicSNV - 2/69 1
8-4464209-A-G c.302+30655T>C - IntronicSNV - 2/69 1
8-4466042-C-T c.302+28822G>A - IntronicSNV - 2/69 1
8-4467334-G-A c.302+27530C>T - IntronicSNV - 2/69 2
8-4467334-G-T c.302+27530C>A - IntronicSNV - 2/69 2
8-4467788-G-A c.302+27076C>T - IntronicSNV - 2/69 1
8-4467788-G-C c.302+27076C>G - IntronicSNV - 2/69 1
8-4468173-T-C c.302+26691A>G - IntronicSNV - 2/69 1
8-4468173-T-G c.302+26691A>C - IntronicSNV - 2/69 1
8-4468542-T-C c.302+26322A>G - IntronicSNV - 2/69 1
8-4469330-G-A c.302+25534C>T - IntronicSNV - 2/69 1
8-4476957-G-A c.302+17907C>T - IntronicSNV - 2/69 1
8-4478647-C-T c.302+16217G>A - IntronicSNV - 2/69 1
8-4481970-A-C c.302+12894T>G - IntronicSNV - 2/69 1
8-4482852-A-C c.302+12012T>G - IntronicSNV - 2/69 1
8-4482852-A-T c.302+12012T>A - IntronicSNV - 2/69 1
8-4483141-A-G c.302+11723T>C - IntronicSNV - 2/69 1
8-4484075-A-G c.302+10789T>C - IntronicSNV - 2/69 1
8-4485322-T-C c.302+9542A>G - IntronicSNV - 2/69 1
8-4485322-T-G c.302+9542A>C - IntronicSNV - 2/69 1
8-4486446-A-G c.302+8418T>C - IntronicSNV - 2/69 1
8-4486446-A-T c.302+8418T>A - IntronicSNV - 2/69 1
8-4486561-A-G c.302+8303T>C - IntronicSNV - 2/69 1
8-4486892-A-G c.302+7972T>C - IntronicSNV - 2/69 1
8-4487278-G-A c.302+7586C>T - IntronicSNV - 2/69 1
8-4487278-G-T c.302+7586C>A - IntronicSNV - 2/69 1
8-4488046-T-A c.302+6818A>T - IntronicSNV - 2/69 2
8-4488046-T-C c.302+6818A>G - IntronicSNV - 2/69 2
8-4488046-T-G c.302+6818A>C - IntronicSNV - 2/69 2
8-4489017-T-A c.302+5847A>T - IntronicSNV - 2/69 1
8-4489017-T-C c.302+5847A>G - IntronicSNV - 2/69 1
8-4489552-T-C c.302+5312A>G - IntronicSNV - 2/69 1
8-4490037-G-A c.302+4827C>T - IntronicSNV - 2/69 1
8-4490059-C-G c.302+4805G>C - IntronicSNV - 2/69 1
8-4490277-C-A c.302+4587G>T - IntronicSNV - 2/69 1
8-4490277-C-G c.302+4587G>C - IntronicSNV - 2/69 1
8-4490277-C-T c.302+4587G>A - IntronicSNV - 2/69 1
8-4490521-C-A c.302+4343G>T - IntronicSNV - 2/69 1
8-4490521-C-G c.302+4343G>C - IntronicSNV - 2/69 1
8-4491440-C-G c.302+3424G>C - IntronicSNV - 2/69 1
8-4491610-C-T c.302+3254G>A - IntronicSNV - 2/69 1
8-4492162-G-C c.302+2702C>G - IntronicSNV - 2/69 1
8-4492162-G-T c.302+2702C>A - IntronicSNV - 2/69 1
8-4492255-A-G c.302+2609T>C - IntronicSNV - 2/69 1
8-4492255-A-T c.302+2609T>A - IntronicSNV - 2/69 1
8-4492509-T-C c.302+2355A>G - IntronicSNV - 2/69 2
8-4492520-C-A c.302+2344G>T - IntronicSNV - 2/69 2
8-4492520-C-T c.302+2344G>A - IntronicSNV - 2/69 2
8-4493053-C-T c.302+1811G>A - IntronicSNV - 2/69 1
8-4493449-A-G c.302+1415T>C - IntronicSNV - 2/69 1
8-4493493-G-A c.302+1371C>T - IntronicSNV - 2/69 1
8-4494048-T-G c.302+816A>C - IntronicSNV - 2/69 1
8-4494898-C-T c.268G>A p.Asp90Asn Missense 2/70 - 1
8-4495045-C-A c.121G>T p.Gly41Cys Missense 2/70 - 1
8-4495107-G-A c.86-27C>T - IntronicSNV - 1/69 1
8-4495107-G-C c.86-27C>G - IntronicSNV - 1/69 1
8-4501890-A-G c.86-6810T>C - IntronicSNV - 1/69 1
8-4505914-C-T c.86-10834G>A - IntronicSNV - 1/69 1
8-4508977-A-G c.86-13897T>C - IntronicSNV - 1/69 3
8-4526349-T-A c.86-31269A>T - IntronicSNV - 1/69 1
8-4526349-T-C c.86-31269A>G - IntronicSNV - 1/69 1
8-4527217-C-T c.86-32137G>A - IntronicSNV - 1/69 1
8-4527398-G-A c.86-32318C>T - IntronicSNV - 1/69 1
8-4527398-G-C c.86-32318C>G - IntronicSNV - 1/69 1
8-4529945-T-C c.86-34865A>G - IntronicSNV - 1/69 1
8-4529945-T-G c.86-34865A>C - IntronicSNV - 1/69 1
8-4531835-G-A c.86-36755C>T - IntronicSNV - 1/69 3
8-4536144-T-A c.86-41064A>T - IntronicSNV - 1/69 1
8-4536144-T-C c.86-41064A>G - IntronicSNV - 1/69 1
8-4536144-T-G c.86-41064A>C - IntronicSNV - 1/69 1
8-4541063-T-A c.86-45983A>T - IntronicSNV - 1/69 2
8-4541063-T-C c.86-45983A>G - IntronicSNV - 1/69 2
8-4541063-T-G c.86-45983A>C - IntronicSNV - 1/69 2
8-4546522-G-C c.86-51442C>G - IntronicSNV - 1/69 1
8-4546729-T-C c.86-51649A>G - IntronicSNV - 1/69 1
8-4552510-C-G c.86-57430G>C - IntronicSNV - 1/69 1
8-4552510-C-T c.86-57430G>A - IntronicSNV - 1/69 1
8-4560081-A-G c.86-65001T>C - IntronicSNV - 1/69 8
8-4560227-T-A c.86-65147A>T - IntronicSNV - 1/69 4
8-4560227-T-C c.86-65147A>G - IntronicSNV - 1/69 4
8-4572842-C-T c.86-77762G>A - IntronicSNV - 1/69 1
8-4576720-G-A c.86-81640C>T - IntronicSNV - 1/69 1
8-4579923-G-A c.86-84843C>T - IntronicSNV - 1/69 1
8-4579923-G-T c.86-84843C>A - IntronicSNV - 1/69 1
8-4583927-C-A c.86-88847G>T - IntronicSNV - 1/69 1
8-4583927-C-G c.86-88847G>C - IntronicSNV - 1/69 1
8-4585866-C-T c.86-90786G>A - IntronicSNV - 1/69 1
8-4599243-T-A c.86-104163A>T - IntronicSNV - 1/69 1
8-4606409-C-T c.86-111329G>A - IntronicSNV - 1/69 1
8-4610096-G-A c.86-115016C>T - IntronicSNV - 1/69 1
8-4611924-T-C c.86-116844A>G - IntronicSNV - 1/69 1
8-4613200-T-A c.86-118120A>T - IntronicSNV - 1/69 1
8-4613200-T-C c.86-118120A>G - IntronicSNV - 1/69 1
8-4613391-G-A c.86-118311C>T - IntronicSNV - 1/69 1
8-4617810-T-C c.86-122730A>G - IntronicSNV - 1/69 3
8-4617810-T-G c.86-122730A>C - IntronicSNV - 1/69 3
8-4634415-G-A c.86-139335C>T - IntronicSNV - 1/69 1
8-4634415-G-T c.86-139335C>A - IntronicSNV - 1/69 1
8-4635553-A-G c.86-140473T>C - IntronicSNV - 1/69 2
8-4638706-A-G c.86-143626T>C - IntronicSNV - 1/69 1
8-4640320-C-G c.86-145240G>C - IntronicSNV - 1/69 2
8-4640320-C-T c.86-145240G>A - IntronicSNV - 1/69 2
8-4644361-C-G c.86-149281G>C - IntronicSNV - 1/69 1
8-4644361-C-T c.86-149281G>A - IntronicSNV - 1/69 1
8-4644789-C-T c.86-149709G>A - IntronicSNV - 1/69 1
8-4666701-T-C c.86-171621A>G - IntronicSNV - 1/69 1
8-4670055-G-C c.86-174975C>G - IntronicSNV - 1/69 1
8-4676416-T-C c.85+175438A>G - IntronicSNV - 1/69 1
8-4676416-T-G c.85+175438A>C - IntronicSNV - 1/69 1
8-4676578-G-A c.85+175276C>T - IntronicSNV - 1/69 1
8-4676578-G-C c.85+175276C>G - IntronicSNV - 1/69 1
8-4676578-G-T c.85+175276C>A - IntronicSNV - 1/69 1
8-4682422-G-A c.85+169432C>T - IntronicSNV - 1/69 1
8-4693832-C-T c.85+158022G>A - IntronicSNV - 1/69 1
8-4695991-T-A c.85+155863A>T - IntronicSNV - 1/69 1
8-4695991-T-C c.85+155863A>G - IntronicSNV - 1/69 1
8-4695991-T-G c.85+155863A>C - IntronicSNV - 1/69 1
8-4697447-A-C c.85+154407T>G - IntronicSNV - 1/69 1
8-4697447-A-G c.85+154407T>C - IntronicSNV - 1/69 1
8-4702282-T-C c.85+149572A>G - IntronicSNV - 1/69 1
8-4705811-C-T c.85+146043G>A - IntronicSNV - 1/69 1
8-4707735-C-G c.85+144119G>C - IntronicSNV - 1/69 1
8-4707735-C-T c.85+144119G>A - IntronicSNV - 1/69 1
8-4724338-C-A c.85+127516G>T - IntronicSNV - 1/69 1
8-4724338-C-G c.85+127516G>C - IntronicSNV - 1/69 1
8-4733991-G-A c.85+117863C>T - IntronicSNV - 1/69 1
8-4733991-G-C c.85+117863C>G - IntronicSNV - 1/69 1
8-4736407-A-G c.85+115447T>C - IntronicSNV - 1/69 1
8-4740387-A-G c.85+111467T>C - IntronicSNV - 1/69 1
8-4740387-A-T c.85+111467T>A - IntronicSNV - 1/69 1
8-4742921-A-C c.85+108933T>G - IntronicSNV - 1/69 1
8-4748952-G-A c.85+102902C>T - IntronicSNV - 1/69 1
8-4754838-G-A c.85+97016C>T - IntronicSNV - 1/69 2
8-4756978-G-A c.85+94876C>T - IntronicSNV - 1/69 1
8-4756978-G-C c.85+94876C>G - IntronicSNV - 1/69 1
8-4762645-C-A c.85+89209G>T - IntronicSNV - 1/69 1
8-4770636-G-A c.85+81218C>T - IntronicSNV - 1/69 1
8-4770636-G-C c.85+81218C>G - IntronicSNV - 1/69 1
8-4770636-G-T c.85+81218C>A - IntronicSNV - 1/69 1
8-4777221-A-G c.85+74633T>C - IntronicSNV - 1/69 1
8-4779839-A-G c.85+72015T>C - IntronicSNV - 1/69 4
8-4782658-C-A c.85+69196G>T - IntronicSNV - 1/69 1
8-4786522-G-A c.85+65332C>T - IntronicSNV - 1/69 1
8-4802339-G-A c.85+49515C>T - IntronicSNV - 1/69 1
8-4802339-G-C c.85+49515C>G - IntronicSNV - 1/69 1
8-4809686-C-T c.85+42168G>A - IntronicSNV - 1/69 1
8-4813349-G-T c.85+38505C>A - IntronicSNV - 1/69 2
8-4813459-A-C c.85+38395T>G - IntronicSNV - 1/69 1
8-4813459-A-G c.85+38395T>C - IntronicSNV - 1/69 1
8-4816363-C-A c.85+35491G>T - IntronicSNV - 1/69 1
8-4816363-C-T c.85+35491G>A - IntronicSNV - 1/69 1
8-4816492-A-C c.85+35362T>G - IntronicSNV - 1/69 1
8-4816492-A-G c.85+35362T>C - IntronicSNV - 1/69 1
8-4816872-C-G c.85+34982G>C - IntronicSNV - 1/69 1
8-4816872-C-T c.85+34982G>A - IntronicSNV - 1/69 1
8-4817592-T-A c.85+34262A>T - IntronicSNV - 1/69 1
8-4817592-T-C c.85+34262A>G - IntronicSNV - 1/69 1
8-4817716-C-T c.85+34138G>A - IntronicSNV - 1/69 1
8-4817813-G-C c.85+34041C>G - IntronicSNV - 1/69 1
8-4817813-G-T c.85+34041C>A - IntronicSNV - 1/69 1
8-4818950-T-C c.85+32904A>G - IntronicSNV - 1/69 1
8-4818950-T-G c.85+32904A>C - IntronicSNV - 1/69 1
8-4826197-C-A c.85+25657G>T - IntronicSNV - 1/69 1
8-4826197-C-T c.85+25657G>A - IntronicSNV - 1/69 1
8-4827332-T-A c.85+24522A>T - IntronicSNV - 1/69 5
8-4827332-T-C c.85+24522A>G - IntronicSNV - 1/69 5
8-4831685-C-G c.85+20169G>C - IntronicSNV - 1/69 4
8-4831685-C-T c.85+20169G>A - IntronicSNV - 1/69 4
8-4833790-A-G c.85+18064T>C - IntronicSNV - 1/69 7
8-4835344-G-A c.85+16510C>T - IntronicSNV - 1/69 1
8-4838022-G-A c.85+13832C>T - IntronicSNV - 1/69 1
8-4840001-G-A c.85+11853C>T - IntronicSNV - 1/69 1
8-4841024-G-A c.85+10830C>T - IntronicSNV - 1/69 1
8-4845184-C-T c.85+6670G>A - IntronicSNV - 1/69 1
8-4851787-C-A c.85+67G>T - IntronicSNV - 1/69 1
8-4851787-C-G c.85+67G>C - IntronicSNV - 1/69 1
8-4851787-C-T c.85+67G>A - IntronicSNV - 1/69 1
8-4851880-CA-AC c.58_59delinsGT p.Cys20Val Missense 1/70 - 1
8-4851904-AG-GC c.34_35delinsGC p.Leu12Ala Missense 1/70 - 1